diff --git a/hp-base.owl b/hp-base.owl index 85fefba70..2ba4b3231 100644 --- a/hp-base.owl +++ b/hp-base.owl @@ -13,7 +13,7 @@ xmlns:dcterms="http://purl.org/dc/terms/" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + Human Phenotype Ontology Consortium Monarch Initiative @@ -28,7 +28,7 @@ human_phenotype has_part Please see license of HPO at http://www.human-phenotype-ontology.org - 2024-03-06 + 2024-04-03 @@ -460,6 +460,12 @@ + + + + + + @@ -478,6 +484,12 @@ + + + + + + @@ -490,12 +502,24 @@ + + + + + + + + + + + + @@ -514,6 +538,12 @@ + + + + + + @@ -580,6 +610,12 @@ + + + + + + @@ -604,6 +640,12 @@ + + + + + + @@ -616,6 +658,12 @@ + + + + + + @@ -640,6 +688,12 @@ + + + + + + @@ -694,6 +748,18 @@ + + + + + + + + + + + + @@ -724,6 +790,12 @@ + + + + + + @@ -796,6 +868,24 @@ + + + + + + + + + + + + + + + + + + @@ -808,9 +898,9 @@ - + - + @@ -838,12 +928,24 @@ + + + + + + + + + + + + @@ -958,6 +1060,12 @@ + + + + + + @@ -970,12 +1078,30 @@ + + + + + + + + + + + + + + + + + + @@ -1000,6 +1126,18 @@ + + + + + + + + + + + + @@ -1042,6 +1180,12 @@ + + + + + + @@ -1090,6 +1234,12 @@ + + + + + + @@ -1102,6 +1252,12 @@ + + + + + + @@ -1228,6 +1384,12 @@ + + + + + + @@ -1264,6 +1426,12 @@ + + + + + + @@ -1282,6 +1450,12 @@ + + + + + + @@ -1300,6 +1474,18 @@ + + + + + + + + + + + + @@ -1354,6 +1540,18 @@ + + + + + + + + + + + + @@ -1402,6 +1600,12 @@ + + + + + + @@ -1432,6 +1636,12 @@ + + + + + + @@ -1516,6 +1726,12 @@ + + + + + + @@ -1582,6 +1798,12 @@ + + + + + + @@ -1612,6 +1834,12 @@ + + + + + + @@ -1642,6 +1870,24 @@ + + + + + + + + + + + + + + + + + + @@ -1672,12 +1918,24 @@ + + + + + + + + + + + + @@ -1726,6 +1984,18 @@ + + + + + + + + + + + + @@ -1756,6 +2026,12 @@ + + + + + + @@ -1774,12 +2050,24 @@ + + + + + + + + + + + + @@ -1822,18 +2110,36 @@ + + + + + + + + + + + + + + + + + + @@ -2614,12 +2920,6 @@ - - - - - - @@ -3274,12 +3574,6 @@ - - - - - - @@ -15621,7 +15915,7 @@ UMLS:C1857013 Hyperkeratosis, gingival HP:0000222 - The condition results in the teeth being partially or totally engulfed by keratinized gingiva, causing aesthetic and functional problems. + The condition results in the teeth being partially or totally engulfed by keratinized gingiva, causing esthetic and functional problems. Gingival hyperkeratosis @@ -22171,11 +22465,13 @@ HP:0004668 UMLS:C1835884 Face with broad temples and narrow chin + Inverted triangular face Triangular face Triangular facial shape Triangular facies HP:0000325 + Several groups have used the term inverted triangular face to emphasize the fact that the point is facing downwards. Triangular face @@ -22184,6 +22480,8 @@ Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. PMID:19125436 + PMID:21166787 + PMID:30515601 @@ -26589,7 +26887,7 @@ - + @@ -26612,8 +26910,9 @@ Abnormality of the choanae (the posterior nasal apertures). UMLS:C4025855 + Abnormality of the choanae HP:0000415 - Abnormality of the choanae + Abnormal choanae morphology @@ -31747,7 +32046,7 @@ UMLS:C0017601 HP:0000501 - The feature that differentiates glaucoma from other causes of visual morbidity is a characteristic pattern of damage to the optic nerve head. This is most easily recognised at the superior and inferior poles of the optic disc. The vertical cup:disc ratio (VCDR) has proved to be a simple, relatively robust index of glaucomatous loss of the neuroretinal rim. As with intraocular pressure, VCDR is a continuous variable within the population. + The feature that differentiates glaucoma from other causes of visual morbidity is a characteristic pattern of damage to the optic nerve head. This is most easily recognized at the superior and inferior poles of the optic disc. The vertical cup:disk ratio (VCDR) has proved to be a simple, relatively robust index of glaucomatous loss of the neuroretinal rim. As with intraocular pressure, VCDR is a continuous variable within the population. Glaucoma @@ -33720,7 +34019,7 @@ UMLS:C0155300 HP:0000538 - Papilledema is disc edema secondary to increased intracranial pressure. + Papilledema is disk edema secondary to increased intracranial pressure. Pseudopapilledema @@ -33895,13 +34194,12 @@ - A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. + A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. HP:0001148 HP:0001484 SNOMEDCT_US:302200001 UMLS:C0554970 Pale optic disc - Pale optic disk Disc pallor Pale optic discs HP:0000543 @@ -33912,7 +34210,7 @@ - A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. + A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. @@ -34250,6 +34548,12 @@ Abnormality of color vision + + + + Abnormality of colour vision + + @@ -36055,7 +36359,7 @@ SNOMEDCT_US:44295002 UMLS:C0155299 Coloboma of optic nerve - Optic disk coloboma + Optic disc coloboma Optic nerve coloboma HP:0000588 @@ -38853,7 +39157,7 @@ Optic-nerve degeneration HP:0000648 - The diagnosis of optic atrophy is made when the optic disc loses its normal orange-pink color. Optic atrophy is an end stage that arises from myriad causes of optic nerve damage anywhere along the path from the retina to the lateral geniculate. Some of the most common etiologies are advanced glaucoma, optic neuritis, arteritic or non-arteritic ischaemic optic neuropathy or a compressive lesion. + The diagnosis of optic atrophy is made when the optic disc loses its normal orange-pink color. Optic atrophy is an end stage that arises from myriad causes of optic nerve damage anywhere along the path from the retina to the lateral geniculate. Some of the most common etiologies are advanced glaucoma, optic neuritis, arteritic or non-arteritic ischemic optic neuropathy or a compressive lesion. Optic atrophy @@ -39258,7 +39562,7 @@ - Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex. + Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex. HP:0000628 HP:0007764 MSH:C537423 @@ -39275,7 +39579,7 @@ - Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex. + Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex. PMID:20615230 @@ -40532,7 +40836,7 @@ - A grey discoloration of the dental enamel. + A gray discoloration of the dental enamel. UMLS:C1854783 Gray colored tooth enamel Gray tooth shade @@ -40547,7 +40851,7 @@ - A grey discoloration of the dental enamel. + A gray discoloration of the dental enamel. @@ -42766,7 +43070,6 @@ UMLS:C1457883 Aggression Aggressive behavior - Aggressive behaviour Aggressiveness physical aggression HP:0000718 @@ -42784,12 +43087,6 @@ Aggressive behavior - - - - Aggressive behaviour - - @@ -43106,7 +43403,7 @@ UMLS:C4021799 Restricted behavior Restricted behaviour - Restrictive behaviour + Restrictive behavior Restrictive behavior, interests, and activities HP:0000723 Restrictive behavior @@ -43442,10 +43739,11 @@ SNOMEDCT_US:84328007 UMLS:C0038271 UMLS:C0038273 - Motor stereotypy - Repetitive behaviour Stereotypic behavior + Abnormal repetitive mannerism + Repetitive behavior Repetitive behaviour Stereotypic behaviour Repetitive movements + Repetitive, stereotypic behavior Stereotyped Stereotyped behavior Stereotyped behaviors @@ -43458,15 +43756,14 @@ Stereotypical motor behaviour Stereotypical motor behaviours Stimming - repetitive behavior repetitive behaviour HP:0000733 - Abnormal repetitive mannerisms + Motor stereotypy - Motor stereotypy + Abnormal repetitive mannerism @@ -43476,7 +43773,7 @@ - Repetitive behaviour Stereotypic behavior + Repetitive behavior @@ -43501,6 +43798,16 @@ + + + + Repetitive, stereotypic behavior + + + + + + @@ -43546,11 +43853,7 @@ Stereotyped behaviours - - - - - + @@ -43621,16 +43924,6 @@ - - - - repetitive behavior - - - - - - @@ -45062,7 +45355,7 @@ UMLS:C4021798 - Abnormal nonverbal communicative behaviour + Abnormal nonverbal communicative behavior Impaired use of nonverbal behaviors Impaired use of nonverbal behaviours HP:0000758 @@ -45082,11 +45375,7 @@ Impaired use of nonverbal behaviours - - - - - + @@ -48049,8 +48338,6 @@ HP:0008206 SNOMEDCT_US:2109003 UMLS:C3714796 - Growth hormone deficiency - Somatotropin deficiency HP:0000824 GH stimulation tests are performed with various stimuli, such as insulin, L-dopa, arginine, and growth hormone releasing hormone (GHRH). The test using insulin as a stimulus is classically recommended, but this test has potential risks such as hypoglycemia. The effects of growth hormone are mediated almost exclusively by insulin-like growth factor 1(IGF-1), which is produced primarily in the liver. Growth hormone deficiency refers to inadequate levels of GH (and therefore IGF-1), resulting in growth retardation in children and metabolic disturbances in adults. Decreased response to growth hormone stimulation test @@ -48062,12 +48349,6 @@ PMID:25914878 - - - - Growth hormone deficiency - - @@ -50176,9 +50457,9 @@ - + - + A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin). MSH:C580003 SNOMEDCT_US:32390006 @@ -50186,7 +50467,7 @@ HP:0000871 Panhypopituitarism - + @@ -50227,7 +50508,7 @@ - + @@ -58067,6 +58348,7 @@ HP:0006746 HP:0007386 HP:0007612 + HP:0009595 MSH:D017253 NCIT:C3272 SNOMEDCT_US:19133005 @@ -58561,7 +58843,7 @@ Gerontoxon Arcus juvenilis HP:0001084 - A grey opaque line which surrounds the margin of the cornea caused by lipid deposits. + A gray opaque line which surrounds the margin of the cornea caused by lipid deposits. Corneal arcus @@ -59382,7 +59664,7 @@ Macular abnormality HP:0001103 - The term macula derives from the presence of the xanthophyll pigments, lutein and zeaxanthin, in a region five to six millimetres in diameter at the posterior pole of the eye, appearing as a yellow spot (macula lutea), when viewed in red-free light. + The term macula derives from the presence of the xanthophyll pigments, lutein and zeaxanthin, in a region five to six millimeters in diameter at the posterior pole of the eye, appearing as a yellow spot (macula lutea), when viewed in red-free light. Abnormal macular morphology @@ -60123,7 +60405,7 @@ Transient unilateral blurred vision Hemianopic blurring HP:0001125 - The anterior segment comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens. + The anterior segment comprises the structures in front of the vitreous humor: the cornea, iris, ciliary body, and lens. Transient unilateral blurring of vision @@ -62179,7 +62461,10 @@ UMLS:C0239815 Clenched hand Clenched hands + Fisted hand + Fisting Hand clenching + Thumb clasp HP:0001188 Hand clenching is commonly characterized by malpositioning of the fingers characterized by radial deviation of the 4th and 5th digits and ulnar deviation of the 2nd digit over the 3rd finger. Hand clenching is distinguished from Camptodactyly, as that term may describe fewer than five digits of a eudactylous hand and does not involve the MCPJ. The digits may overlap when they lie flexed in the palm. It is not necessary to specify the overlapping fingers finding separately. @@ -62192,6 +62477,7 @@ PMID:10085502 PMID:16702456 + PMID:27638597 @@ -63834,8 +64120,12 @@ Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals. UMLS:C4025795 - Shortened short tubular bones of the hand + Long bone shortening of the hand + Short long bones of the hand + Shortened long tubular bones of the hand + Shortened tubular bones of the hand HP:0001248 + Long bones are also known as tubular bones. Short tubular bones of the hand @@ -63985,7 +64275,7 @@ - A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. + A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. HP:0001275 HP:0001303 HP:0002125 @@ -64024,7 +64314,7 @@ - A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. + A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. PMID:15816939 @@ -72007,7 +72297,7 @@ UMLS:C0423361 Vitreous detachment HP:0001489 - The vitreous humour is a transparent and colorless gel located between the retina and the lens. In posterior vitreous detachment (PVD), the vitreous membrane (which surrounds the vitreous humor) separates from the retina. This condition is common in individuals over 65 years of age but may occur in younger persons. PVD is often characterized by flashes of light and floaters, and may be complicated by retinal detachment. + The vitreous humor is a transparent and colorless gel located between the retina and the lens. In posterior vitreous detachment (PVD), the vitreous membrane (which surrounds the vitreous humor) separates from the retina. This condition is common in individuals over 65 years of age but may occur in younger persons. PVD is often characterized by flashes of light and floaters, and may be complicated by retinal detachment. Posterior vitreous detachment @@ -80149,7 +80439,7 @@ DORV Double-outlet right ventricle HP:0001719 - During the development of the heart, the outflow tract initially connects exclusively with the primitive right ventricle and must undergo extensive remodelling to divide into a separate pulmonary artery and aorta; subsequently, there is continued remodelling to establish direct continuity from the left ventricle to the aorta. DORV encompasses a wide spectrum of anatomic arrangements and pathophysiologic disturbances. At one end of the spectrum, it mimics tetralogy of Fallot in the presence of pulmonary stenosis, or a large ventricular septal defect (VSD) in the absence of such stenosis. At the other end of the spectrum, it behaves like transposition of the great arteries with a VSD. + During the development of the heart, the outflow tract initially connects exclusively with the primitive right ventricle and must undergo extensive remodeling to divide into a separate pulmonary artery and aorta; subsequently, there is continued remodeling to establish direct continuity from the left ventricle to the aorta. DORV encompasses a wide spectrum of anatomic arrangements and pathophysiologic disturbances. At one end of the spectrum, it mimics tetralogy of Fallot in the presence of pulmonary stenosis, or a large ventricular septal defect (VSD) in the absence of such stenosis. At the other end of the spectrum, it behaves like transposition of the great arteries with a VSD. Double outlet right ventricle @@ -81539,6 +81829,7 @@ Pes equinus Talipes varus Fetal foot inversion + Foetal foot inversion HP:0001762 Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus. Fetal foot inversion refers to malposition of the foot originating during development involving inversion at the region of the metacarpals or more usually the subtalar joint and represents the prenatal sonographic equivalent of talipes equinovarus. @@ -81587,6 +81878,12 @@ Talipes varus + + + + Foetal foot inversion + + @@ -86843,6 +87140,7 @@ SNOMEDCT_US:61261009 UMLS:C0002878 Haemolytic anaemia + Haemolytic anemia Hemolytic anaemia Increased hemolysis HP:0001878 @@ -86855,6 +87153,12 @@ A type of anemia caused by premature destruction of red blood cells (hemolysis). + + + + Haemolytic anaemia + + @@ -87444,6 +87748,7 @@ SNOMEDCT_US:413603009 UMLS:C0002880 Autoimmune haemolytic anaemia + Autoimmune haemolytic anemia Autoimmune hemolytic anaemia Hemolytic anemia, autoimmune HP:0001890 @@ -87455,6 +87760,12 @@ An autoimmune form of hemolytic anemia. + + + + Autoimmune haemolytic anaemia + + @@ -87897,6 +88208,7 @@ + @@ -87927,12 +88239,18 @@ + Concentration of hemoglobin in the blood circulation above the upper limit of normal. + HP:0020063 SNOMEDCT_US:131141003 UMLS:C0549448 Increased Hb + Increased Hb concentration Increased haemoglobin + Increased haemoglobin concentration + Increased hemoglobin + Increased hemoglobin concentration HP:0001900 - Increased hemoglobin + Increased circulating hemoglobin concentration @@ -87940,12 +88258,24 @@ Increased Hb + + + + Increased Hb concentration + + Increased haemoglobin + + + + Increased haemoglobin concentration + + @@ -89052,7 +89382,7 @@ MSH:D000747 SNOMEDCT_US:44452003 UMLS:C0002884 - Hypochromic anaemia + Hypochromic anemia HP:0001931 The low concentration of hemoglobin in the erythrocytes causes them to be abnormally pale, i.e., to have less color (be hypochromic). Hypochromic anemia @@ -94885,7 +95215,7 @@ Tonic-clonic convulsion Tonic-clonic convulsions HP:0002069 - A tonic-clonic seizure may be generalised from onset or progress from a focal seizure to a bilateral tonic clonic seizure. This term describes the observed semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding bilateral tonic-clonic seizures when the onset is not known. This form of seizure was formerly commonly called grand mal seizure. + A tonic-clonic seizure may be generalized from onset or progress from a focal seizure to a bilateral tonic clonic seizure. This term describes the observed semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding bilateral tonic-clonic seizures when the onset is not known. This form of seizure was formerly commonly called grand mal seizure. Bilateral tonic-clonic seizure @@ -95002,7 +95332,7 @@ Extrapyramidal syndrome Extrapyramidal tract signs HP:0002071 - The basal ganglia, paired subcortical masses of grey matter that form distinct nuclei, subserve motor functions that are distinct from those of the pyramidal (i.e., corticospinal) tract. This is a bundled term that is kept for historical reasons, but it is preferable to annotate the precise abnormalities observed. + The basal ganglia, paired subcortical masses of gray matter that form distinct nuclei, subserve motor functions that are distinct from those of the pyramidal (i.e., corticospinal) tract. This is a bundled term that is kept for historical reasons, but it is preferable to annotate the precise abnormalities observed. Abnormality of extrapyramidal motor function @@ -97025,7 +97355,7 @@ - A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. + A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. HP:0007143 HP:0011148 MSH:D004832 @@ -97049,7 +97379,7 @@ - A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. + A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. PMID:28276060 PMID:28276062 @@ -97094,7 +97424,7 @@ - A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. + A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. HP:0006869 HP:0006902 HP:0007075 @@ -97122,7 +97452,7 @@ - A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. + A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. HPO_CONTRIBUTOR:jalbers PMID:28276060 PMID:28276064 @@ -97450,7 +97780,7 @@ MSH:D013345 SNOMEDCT_US:21454007 UMLS:C0038525 - Subarachnoid haemorrhage + Subarachnoid hemorrhage HP:0002138 Bleeding into the subarachnoid space the area between the arachnoid membrane and the pia mater surrounding the brain. Subarachnoid hemorrhage may occur spontaneously, usually from a ruptured cerebral aneurysm, or may result from head injury. Subarachnoid hemorrhage @@ -99569,6 +99899,12 @@ + + + + Brain oedema + + @@ -100020,7 +100356,7 @@ Primary generalised seizure Primary generalized seizure HP:0002197 - in 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (over 80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination. Classifying a seizure as having apparently generalised onset does not rule out a focal-onset obscured by limitations of our current clinical methods. + in 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (over 80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination. Classifying a seizure as having apparently generalized onset does not rule out a focal-onset obscured by limitations of our current clinical methods. Generalized-onset seizure @@ -100954,7 +101290,7 @@ Premature greying - + @@ -101335,7 +101671,7 @@ - The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. + The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. Nappy hair texture MEDDRA:10048017 SNOMEDCT_US:52564001 @@ -101355,7 +101691,7 @@ - The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. + The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. PMID:20464096 @@ -103381,7 +103717,7 @@ Heterotopias Neuronal heterotopia HP:0002282 - Gray matter heterotopia is caused by clumps of grey matter being located in the wrong part of the brain. It is characterized as a type of cortical malformation. The neurons in heterotopia may appear to be normal, except for their mislocation; nuclear studies have shown glucose metabolism equal to that of normally positioned gray matter. The condition causes a variety of symptoms, but usually includes some degree of epilepsy or recurring seizures, and often affects the brain's ability to function on higher levels. Symptoms range from nonexistent to profound, in which case heterotopia can result in severe seizure disorder, loss of motor skills, and mental retardation. Neuronal heterotopia consists of grey matter within the white matter, and the term grey matter heterotopia is more frequently used. + Gray matter heterotopia is caused by clumps of gray matter being located in the wrong part of the brain. It is characterized as a type of cortical malformation. The neurons in heterotopia may appear to be normal, except for their mislocation; nuclear studies have shown glucose metabolism equal to that of normally positioned gray matter. The condition causes a variety of symptoms, but usually includes some degree of epilepsy or recurring seizures, and often affects the brain's ability to function on higher levels. Symptoms range from nonexistent to profound, in which case heterotopia can result in severe seizure disorder, loss of motor skills, and mental retardation. Neuronal heterotopia consists of gray matter within the white matter, and the term gray matter heterotopia is more frequently used. Gray matter heterotopia @@ -107826,7 +108162,7 @@ SNOMEDCT_US:237714006 UMLS:C0342418 HP:0002444 - Hypothalamic hamartoma is a malformation, not a tumor. Hypothalamic hamartomas grow at the rate of, or slower than, the surrounding brain tissue. A hamartoma of the hypothalamus appears as a non-enhancing mass in the floor of the third ventricle posterior to the optic chiasm that is isointense to grey matter on T1 and T2 pulse sequences of an MRI, but may have distinct intensity on FLAIR (neither cranial CT examination nor cranial ultrasound examination is adequate for diagnosis of hypothalamic hamartom). Individuals with hypothalamic hamartomas may have neurologic symptoms, although most are asymptomatic. Removal of the hypothalamic hamartoma is not indicated and often results in iatrogenic pituitary insufficiency. + Hypothalamic hamartoma is a malformation, not a tumor. Hypothalamic hamartomas grow at the rate of, or slower than, the surrounding brain tissue. A hamartoma of the hypothalamus appears as a non-enhancing mass in the floor of the third ventricle posterior to the optic chiasm that is isointense to gray matter on T1 and T2 pulse sequences of an MRI, but may have distinct intensity on FLAIR (neither cranial CT examination nor cranial ultrasound examination is adequate for diagnosis of hypothalamic hamartom). Individuals with hypothalamic hamartomas may have neurologic symptoms, although most are asymptomatic. Removal of the hypothalamic hamartoma is not indicated and often results in iatrogenic pituitary insufficiency. Hypothalamic hamartoma @@ -108619,7 +108955,7 @@ - The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant. + The primitive reflexes are a group of behavioral motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant. UMLS:C1838319 Archaic reflex Primitive reflexes @@ -108629,7 +108965,7 @@ - The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant. + The primitive reflexes are a group of behavioral motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant. PMID:12700289 @@ -109357,7 +109693,7 @@ White matter alterations Cortical white matter abnormalities seen on MRI HP:0002500 - This finding can be demonstrated by magnetic resonance imaging, especially with t2 signalling. The cerebral white matter is the region of the central nervous system that consists mostly of glial cells and myelinated axons that interconnect the various regions of the cerebrum and the lower brain centers. It is located in the subcortex. + This finding can be demonstrated by magnetic resonance imaging, especially with t2 signaling. The cerebral white matter is the region of the central nervous system that consists mostly of glial cells and myelinated axons that interconnect the various regions of the cerebrum and the lower brain centers. It is located in the subcortex. Abnormal cerebral white matter morphology @@ -109672,6 +110008,7 @@ UMLS:C1838391 + Appendicular hypertonia Increased muscle tone of arm or leg HP:0002509 Limb hypertonia @@ -116827,7 +117164,7 @@ Obtuse basal angle of skull base HP:0002691 - Platybasia is malformation of the base of the skull due to softening of skull bones or a developmental anomaly, with bulging upwards of the floor of the posterior cranial fossa, upward displacement of the upper cervical vertebrae, and bony impingement on the brainstem. It results in abnormal obtuseness of the basal angle that can be demonstrated radiographically. If platybasia is associated with basilar invagination, compression of the brainstem and upper cervical cord can result. Basal Angle formed by: line joining the nasion with the centre of the pituitary fossa line joining the anterior border of the foramen magnum with the centre of the pituitary fossa normal: 125 degrees-143 degrees platybasia: > 143 degrees basilar kyphosis: < 125 degrees. + Platybasia is malformation of the base of the skull due to softening of skull bones or a developmental anomaly, with bulging upwards of the floor of the posterior cranial fossa, upward displacement of the upper cervical vertebrae, and bony impingement on the brainstem. It results in abnormal obtuseness of the basal angle that can be demonstrated radiographically. If platybasia is associated with basilar invagination, compression of the brainstem and upper cervical cord can result. Basal Angle formed by: line joining the nasion with the center of the pituitary fossa line joining the anterior border of the foramen magnum with the center of the pituitary fossa normal: 125 degrees-143 degrees platybasia: > 143 degrees basilar kyphosis: < 125 degrees. Platybasia @@ -116858,7 +117195,7 @@ - Platybasia is malformation of the base of the skull due to softening of skull bones or a developmental anomaly, with bulging upwards of the floor of the posterior cranial fossa, upward displacement of the upper cervical vertebrae, and bony impingement on the brainstem. It results in abnormal obtuseness of the basal angle that can be demonstrated radiographically. If platybasia is associated with basilar invagination, compression of the brainstem and upper cervical cord can result. Basal Angle formed by: line joining the nasion with the centre of the pituitary fossa line joining the anterior border of the foramen magnum with the centre of the pituitary fossa normal: 125 degrees-143 degrees platybasia: > 143 degrees basilar kyphosis: < 125 degrees. + Platybasia is malformation of the base of the skull due to softening of skull bones or a developmental anomaly, with bulging upwards of the floor of the posterior cranial fossa, upward displacement of the upper cervical vertebrae, and bony impingement on the brainstem. It results in abnormal obtuseness of the basal angle that can be demonstrated radiographically. If platybasia is associated with basilar invagination, compression of the brainstem and upper cervical cord can result. Basal Angle formed by: line joining the nasion with the center of the pituitary fossa line joining the anterior border of the foramen magnum with the center of the pituitary fossa normal: 125 degrees-143 degrees platybasia: > 143 degrees basilar kyphosis: < 125 degrees. @@ -119279,29 +119616,11 @@ - - - Cleft lip and cleft palate affecting both sides of the face. - SNOMEDCT_US:1085331000119107 - UMLS:C1398522 - Bilateral cleft lip and cleft palate - Right and left cleft lip and palate + HP:0100337 HP:0002744 - Bilateral cleft lip and palate + obsolete Bilateral cleft lip and palate + true - - - - Cleft lip and cleft palate affecting both sides of the face. - - - - - - Right and left cleft lip and palate - - - @@ -122077,6 +122396,7 @@ UMLS:C3277117 Coccygeal tail Human tail + Sacral appendage HP:0002825 Caudal appendage @@ -122086,6 +122406,9 @@ The presence of a tail-like skin appendage located adjacent to the sacrum. + PMID:18266249 + PMID:18629881 + PMID:23904413 @@ -126618,6 +126941,7 @@ SNOMEDCT_US:11301007 UMLS:C0263870 Narrow intervertebral disc spaces + Narrow intervertebral disk spaces Narrow intervertebral spaces HP:0002945 A decrease in the height of the intervertebral disks is usually observed as a narrowing of the space between the vertebrae on X-ray examination. @@ -126629,6 +126953,12 @@ Decreased height of the intervertebral disk. + + + + Narrow intervertebral disc spaces + + @@ -126821,9 +127151,9 @@ UMLS:C1835763 UMLS:C1849073 UMLS:C3278509 - Fused vertebrae + Congenital spinal fusion + Congenitally fused vertebrae Fusion of vertebral bodies - Spinal fusion Vertebral body fusion HP:0002948 @@ -126835,12 +127165,6 @@ A developmental defect leading to the union of two adjacent vertebrae. - - - - Spinal fusion - - @@ -131177,7 +131501,7 @@ - + @@ -135370,7 +135694,7 @@ - + @@ -138029,7 +138353,7 @@ - A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration. + A type of chromosomal aberration characterized by reduced resistance of chromosomes to change or deterioration. HP:0002915 HP:0008307 MSH:D019457 @@ -138041,7 +138365,7 @@ - A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration. + A type of chromosomal aberration characterized by reduced resistance of chromosomes to change or deterioration. @@ -144731,7 +145055,7 @@ UMLS:C1968790 Axon degeneration and regeneration HP:0003378 - This finding is typically demonstrated by nerve biopsy. Following focal damage to an axon, the part of the axon that is distal to the lesion invariably degenerates, a process that is known as anterograde (or Wallerian) degeneration. During Wallerian degeneration, often a microenvironment is created that can allow successful regrowth of nerve fibres from the proximal nerve segment. + This finding is typically demonstrated by nerve biopsy. Following focal damage to an axon, the part of the axon that is distal to the lesion invariably degenerates, a process that is known as anterograde (or Wallerian) degeneration. During Wallerian degeneration, often a microenvironment is created that can allow successful regrowth of nerve fibers from the proximal nerve segment. Axonal degeneration/regeneration @@ -146398,7 +146722,7 @@ Decreased sensory NCV Decreased sensory nerve conduction velocities HP:0003448 - The sensory nerve action potential (SNAP) in response to electrical stimulation is recorded from the nerve itself by means of dermal recording electrodes. The SNAP is the sum of all the action potentials generated in sensory nerve fibres by the applied electrical impulse. + The sensory nerve action potential (SNAP) in response to electrical stimulation is recorded from the nerve itself by means of dermal recording electrodes. The SNAP is the sum of all the action potentials generated in sensory nerve fibers by the applied electrical impulse. Decreased sensory nerve conduction velocity @@ -146570,10 +146894,12 @@ + The concentration of iron in the blood circulation is above the upper limit of normal. SNOMEDCT_US:165624002 UMLS:C0151900 + Increased serum iron HP:0003452 - Increased serum iron + Increased circulating iron concentration @@ -148193,7 +148519,7 @@ - + @@ -149425,7 +149751,7 @@ UMLS:C1836057 Fiber splitting Fibre splitting - Muscle fibre splitting + Muscle fiber splitting HP:0003555 Muscle fiber splitting @@ -151095,17 +151421,18 @@ - An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase level. + Activity or concentration of 4-hydroxyphenylpyruvate dioxygenase in the blood circulation below the lower limit of normal. UMLS:C4025587 + Reduced 4-Hydroxyphenylpyruvate dioxygenase level Reducted HPPD activity HP:0003637 Note: 4-hydroxyphenylpyruvate dioxygenase corresponds to EC 1.13.11.27. 4-Hydroxyphenylpyruvate dioxygenase participates in the tyrosine catabolic pathway by catalyzing the conversion of 4-hydroxyphenylpyruvate to homogentisate. A deficiency in this enzyme can result in 4-Hydroxyphenylacetic aciduria. - Reduced 4-Hydroxyphenylpyruvate dioxygenase level + Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity - An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase level. + Activity or concentration of 4-hydroxyphenylpyruvate dioxygenase in the blood circulation below the lower limit of normal. @@ -151950,7 +152277,7 @@ UMLS:C1859833 Granular osmiophilic deposits (GROD) in cells HP:0003657 - In CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy), GOM deposits can be observed located in the neighbourhood of the smooth muscle cells, often within an infolding of the cell membrane. + In CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy), GOM deposits can be observed located in the neighborhood of the smooth muscle cells, often within an infolding of the cell membrane. Vascular granular osmiophilic material deposition @@ -152186,7 +152513,7 @@ - + Applies to a disease manifestation that only slowly increases in scope or severity over the course of time. HP:0003675 HP:0003681 @@ -152212,7 +152539,7 @@ - + Applies to a disease manifestation that quickly increases in scope or severity over the course of time. UMLS:C1838681 UMLS:C1850776 @@ -152278,7 +152605,7 @@ - + Applies to a disease manifestation that quickly increases in scope or severity with a rate that varies. For instance, progression may be slow in one time period and rapid in another. UMLS:C1970284 HP:0003682 @@ -153502,7 +153829,7 @@ UMLS:C4025576 EMG: spontaneous, repetitive electrical activity HP:0003730 - This is a characteristic abnormality seen in the myotonias and periodic paralyses. + This is a characteristic abnormality seen in the myotonias and periodic paralyzes. EMG: myotonic runs @@ -172524,7 +172851,7 @@ - An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens). + An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humor: the cornea, iris, ciliary body, and lens). 2008-02-27T04:23:00Z UMLS:C4025355 @@ -172533,13 +172860,13 @@ Abnormality of the anterior segment of the eyeball Abnormality of the anterior segment of the globe HP:0004328 - The anterior segment comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens. + The anterior segment comprises the structures in front of the vitreous humor: the cornea, iris, ciliary body, and lens. Abnormal anterior eye segment morphology - An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens). + An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humor: the cornea, iris, ciliary body, and lens). @@ -176290,7 +176617,7 @@ - The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the oesophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers. + The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the esophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers. 2008-03-18T09:14:00Z MSH:D010437 @@ -176304,7 +176631,7 @@ - The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the oesophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers. + The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the esophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers. PMID:28242110 @@ -177558,8 +177885,9 @@ 2008-03-18T09:51:00Z SNOMEDCT_US:24743004 UMLS:C0272242 + Complement deficiency HP:0004431 - Complement deficiency + Reduced circulating complement concentration @@ -181525,16 +181853,16 @@ - + - + A lack of ossification of the vertebral bodies. HP:0008427 UMLS:C1860202 HP:0004606 Unossified vertebral bodies - + @@ -181565,7 +181893,7 @@ - + @@ -185784,8 +186112,8 @@ Increased Hb O2 affinity Increased Hb oxygen affinity Increased haemoglobin O2 affinity - Increased haemoglobin oxygen affinity Increased hemoglobin O2 affinity + Increased hemoglobin oxygen affinity HP:0004825 Increased hemoglobin oxygen affinity @@ -186446,7 +186774,7 @@ - A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin. + A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of hemoglobin. UMLS:C3854594 Hyperchromic macrocytic anaemia HP:0004857 @@ -186455,7 +186783,7 @@ - A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin. + A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of hemoglobin. @@ -189736,6 +190064,7 @@ Disproportionate shortening of the proximal segment of the arm (i.e. the humerus). UMLS:C1969532 HP:0004991 + This term implies that the ulna and radius are not substantially shortened. Rhizomelic arm shortening @@ -191801,7 +192130,7 @@ - Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs. + Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral disks. 2008-03-25T06:01:00Z UMLS:C4025251 @@ -191811,7 +192140,7 @@ - Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs. + Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral disks. @@ -196310,7 +196639,7 @@ Bleeding within a joint Hemarthroses Hemarthrosis - Joint haemorrhage + Joint hemorrhage Spontaneous joint haemorrhage Spontaneous joint hemorrhage HP:0005261 @@ -197766,7 +198095,7 @@ - + @@ -197787,7 +198116,7 @@ - + @@ -197804,11 +198133,12 @@ 2008-03-26T06:07:00Z UMLS:C4025223 + Abnormality of the nasolabial region Anomaly of the nasolabial region Deformity of the nasolabial region Malformation of the nasolabial region HP:0005289 - Abnormality of the nasolabial region + Abnormal nasolabial region morphology @@ -202909,7 +203239,7 @@ Undermineralized calvarium Skull soft on palpation HP:0005474 - A hypomineralised skull castes little or no acoustic shadow on prenatal ultrasound. This makes visualisation of the intracranial anatomy clearer than normal. In conditions associated with profound hypomineralisation, the skull shape can be distorted by pressure from the ultrasound transducer later in pregnancy. + A hypomineralised skull castes little or no acoustic shadow on prenatal ultrasound. This makes visualization of the intracranial anatomy clearer than normal. In conditions associated with profound hypomineralisation, the skull shape can be distorted by pressure from the ultrasound transducer later in pregnancy. Decreased calvarial ossification @@ -208981,6 +209311,7 @@ Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm. UMLS:C1855299 + Hypoplasia of both radius and ulna Short forearm HP:0005773 Short forearm @@ -210805,15 +211136,15 @@ - + - + A lack of bone mineralization of one or more body of cervical vertebra. UMLS:C4025115 HP:0005885 Absent ossification of cervical vertebral bodies - + @@ -210854,7 +211185,7 @@ - + @@ -211048,11 +211379,19 @@ + A developmental defect characterized by the abnormal fusion of the proximal tibia and fibula. UMLS:C4025113 Fusion of innermost shinbone and calf bone + Proximal tibiofibular synostosis HP:0005892 Proximal tibial and fibular fusion + + + + A developmental defect characterized by the abnormal fusion of the proximal tibia and fibula. + PMID:1872166 + @@ -222192,18 +222531,22 @@ A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth. HP:0000681 HP:0006287 + HP:0008498 MSH:C563203 SNOMEDCT_US:109444001 SNOMEDCT_US:234948008 UMLS:C0457756 UMLS:C1290511 + Absence of adult teeth Absence of permanent teeth + Absence of secondary dentition Absent permanent teeth Agenesis of permanent dentition Agenesis of secondary dentition Failure of development of permanent teeth Failure of development of secondary teeth Missing teeth + No permanent dentition HP:0006349 Agenesis of permanent teeth @@ -222213,6 +222556,18 @@ A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth. + + + + Absence of adult teeth + + + + + + Absence of permanent teeth + + @@ -223477,6 +223832,7 @@ + @@ -224163,10 +224519,18 @@ UMLS:C1864854 + Broad femoral metaphyses + Broad femoral metaphysis Broad wide portion of thigh bone HP:0006417 - Broad femoral metaphyses + Wide femoral metaphysis + + + + Broad femoral metaphyses + + @@ -224443,8 +224807,9 @@ An anomaly of the metaphysis of the proximal femur (close to the hip). UMLS:C4025047 Abnormal wide portion of innermost thighbone + Proximal femoral metaphyseal abnormality HP:0006431 - Proximal femoral metaphyseal abnormality + Abnormal proximal femoral metaphysis morphology @@ -224658,10 +225023,12 @@ + A dislocation is a separation of the radius and ulna bones where they normally meet. The radioulnar joints are two locations, proximal and distal, in which the radius and ulna articulate in the forearm. Both can dislocate. HP:0003972 UMLS:C2673394 Dislocated radioulnar joints HP:0006439 + This term refers to any kind of radioulnar joint dislocation (proximal, distal, both, or unknown). Radioulnar dislocation @@ -228362,7 +228729,7 @@ Pulmonary venous stenosis Pulmonary venoocclusive disease HP:0006518 - This feature can be observed by histological examination of lung tissue. The feature can be seen in pulmonary veno-occlusive disease (PVOD). PVOD is characterised by diffuse occlusion of the pulmonary veins by fibrous tissue, pulmonary venous congestion and associated complications including severe pulmonary hypertension (pHTN), non-cardiogenic pulmonary oedema, hypoxia and right-ventricular failure. Clinical presentation is typically non-specific, including dyspnoea, fatigue and cough. + This feature can be observed by histological examination of lung tissue. The feature can be seen in pulmonary veno-occlusive disease (PVOD). PVOD is characterized by diffuse occlusion of the pulmonary veins by fibrous tissue, pulmonary venous congestion and associated complications including severe pulmonary hypertension (pHTN), non-cardiogenic pulmonary edema, hypoxia and right-ventricular failure. Clinical presentation is typically non-specific, including dyspnea, fatigue and cough. Pulmonary venous occlusion @@ -241870,7 +242237,7 @@ - An atypical absence seizure is a type of generalised non-motor (absence) seizure characterised by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity. + An atypical absence seizure is a type of generalized non-motor (absence) seizure characterized by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity. SNOMEDCT_US:23374007 UMLS:C0595948 Atypical absence @@ -241883,7 +242250,7 @@ - An atypical absence seizure is a type of generalised non-motor (absence) seizure characterised by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity. + An atypical absence seizure is a type of generalized non-motor (absence) seizure characterized by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity. PMID:28276060 PMID:28276062 @@ -242816,6 +243183,7 @@ Secondarily generalised tonic-clonic seizure Secondarily generalised tonic-clonic seizures Secondarily generalized tonic-clonic seizure + Secondarily generalized tonic-clonic seizures Secondary generalised tonic clonic seizures Secondary generalised tonic-clonic seizures Secondary generalized tonic clonic seizures @@ -242832,6 +243200,12 @@ PMID:28276060 PMID:28276064 + + + + Focal seizure with secondary generalisation + + @@ -242844,12 +243218,30 @@ Generalized tonic-clonic seizures with focal onset + + + + Partial seizure with secondary generalisation + + Partial seizures with secondary generalisation + + + + Secondarily generalised tonic-clonic seizure + + + + + + Secondarily generalised tonic-clonic seizures + + @@ -245356,7 +245748,7 @@ - Naevus flammeus localised in the skin of the forehead. + Naevus flammeus localized in the skin of the forehead. UMLS:C1848850 Port-wine stain on forehead HP:0007413 @@ -245365,7 +245757,7 @@ - Naevus flammeus localised in the skin of the forehead. + Naevus flammeus localized in the skin of the forehead. @@ -247779,15 +248171,15 @@ - + - + Lack of skin pigmentation (coloring) of the anterior chest. UMLS:C4024848 HP:0007542 Absent pigmentation of the ventral chest - + @@ -247818,7 +248210,7 @@ - + @@ -248842,7 +249234,7 @@ - Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns. + Naevus flammeus localized in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns. UMLS:C0860468 UMLS:C4024829 UMLS:C4280438 @@ -248857,7 +249249,7 @@ - Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns. + Naevus flammeus localized in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns. @@ -249499,17 +249891,17 @@ - An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates. + An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disk or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates. UMLS:C1852242 Nonarteritic anterior ischaemic optic neuropathy HP:0007634 - Nonarteritic anterior ischemic optic neuropathy is caused by infarction of the laminar or retrolaminar portion of the optic nerve head supplied by the short posterior ciliary arteries. Clinically NAION is characterized by sudden, usually painless, loss of vision in one or both eyes. Examination findings include decreased visual acuity, a visual field defect, decreased colour vision, a relative afferent pupillary defect, and optic disc swelling. + Nonarteritic anterior ischemic optic neuropathy is caused by infarction of the laminar or retrolaminar portion of the optic nerve head supplied by the short posterior ciliary arteries. Clinically NAION is characterized by sudden, usually painless, loss of vision in one or both eyes. Examination findings include decreased visual acuity, a visual field defect, decreased color vision, a relative afferent pupillary defect, and optic disc swelling. Nonarteritic anterior ischemic optic neuropathy - An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates. + An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disk or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates. PMID:17698200 @@ -250500,14 +250892,14 @@ - + - + UMLS:C4024816 HP:0007680 Depigmented fundus - + @@ -250538,7 +250930,7 @@ - + @@ -252322,7 +252714,6 @@ SNOMEDCT_US:373650004 UMLS:C1298695 Hypoplastic optic discs - Hypoplastic optic disks HP:0007766 Optic disc hypoplasia @@ -252518,7 +252909,7 @@ - Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. + Ocular abnormality characterized by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. HP:0000655 UMLS:C1850109 Vitreoretinal abnormality @@ -252529,7 +252920,7 @@ - Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. + Ocular abnormality characterized by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. PMID:18179896 @@ -253059,7 +253450,7 @@ Complete achromatopsia Total colorblindness HP:0007803 - Rod monochromacy is the condition of having only rods in the retina. A rod monochromat is truly unable to see any color and can see only shades of grey. + Rod monochromacy is the condition of having only rods in the retina. A rod monochromat is truly unable to see any color and can see only shades of gray. Monochromacy @@ -254618,7 +255009,7 @@ - Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid). + Reduced pigmentation of the fundus, typically generalized. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid). HP:0001111 HP:0001487 HP:0007746 @@ -254633,7 +255024,7 @@ - Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid). + Reduced pigmentation of the fundus, typically generalized. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid). @@ -255830,7 +256221,7 @@ - Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract. + Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract. MSH:D054514 SNOMEDCT_US:314270008 SNOMEDCT_US:44647001 @@ -255852,7 +256243,7 @@ - Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract. + Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract. @@ -266397,6 +266788,7 @@ Chronic infection of the nails by Candida species. UMLS:C4024683 + Fungal infection of the nail HP:0008396 Chronic monilial nail infection @@ -266942,10 +267334,11 @@ Degeneration of intervertebral discs Degeneration of intervertebral disks Degenerative disc disease + Degenerative disk disease Degenerative intervertebral disc Degenerative intervertebral disk HP:0008419 - Intervertebral disc degeneration + Intervertebral disk degeneration @@ -266963,6 +267356,12 @@ Degenerative disc disease + + + + + + Degenerative disk disease @@ -269690,48 +270089,11 @@ - - UMLS:C4024666 - Absence of adult teeth - Absence of secondary dentition - Missing adult teeth - No adult dentition - No secondary dentition + HP:0006349 HP:0008498 - No permanent dentition + obsolete No permanent dentition + true - - - - Absence of adult teeth - - - - - - - Absence of secondary dentition - - - - - - Missing adult teeth - - - - - - - No adult dentition - - - - - - No secondary dentition - - @@ -269775,63 +270137,11 @@ - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Cleft lip or palate affecting the midline region of the palate. - HP:0009089 - UMLS:C2750604 - Central cleft lip and palate - Medial cleft lip and palate - Midline cleft lip/palate - Wide midline cleft lip/palate + HP:0009099 HP:0008501 - Median cleft lip and palate + obsolete Median cleft lip and palate + true - - - - Cleft lip or palate affecting the midline region of the palate. - - - - - - Central cleft lip and palate - - - - - - - Midline cleft lip/palate - - @@ -271915,17 +272225,20 @@ - Abnormal enlargement of the urinary bladder. + Increase in thickness of the wall of the urinary bladder. This finding may be seen in conditions such as bladder outlet obstruction and may be accompanied by increased trabeculation of the bladder wall musculature. UMLS:C4021531 Hypertrophic urinary bladder + Hypertrophy of the urinary bladder wall + Urinary bladder wall thickening HP:0008635 - Hypertrophy of the urinary bladder + Urinary bladder wall hypertrophy - Abnormal enlargement of the urinary bladder. + Increase in thickness of the wall of the urinary bladder. This finding may be seen in conditions such as bladder outlet obstruction and may be accompanied by increased trabeculation of the bladder wall musculature. + PMID:11002301 @@ -275213,7 +275526,7 @@ - + UMLS:C1969697 Repetitive compulsive behavior Repetitive compulsive behaviour @@ -283113,6 +283426,8 @@ Cleft palate of the midline of the palate. + HP:0008501 + HP:0009089 UMLS:C1850968 Central cleft palate Midline cleft palate @@ -319753,20 +320068,13 @@ - - Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1. + HP:0001067 2009-01-28T11:12:19Z - UMLS:C3810474 HP:0009595 - Occasional neurofibromas + obsolete Occasional neurofibromas + true - - - - Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1. - - @@ -327743,7 +328051,7 @@ - Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina. + Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disk diameter in size and tending to be located in the midperiphery of the retina. 2009-01-31T10:49:15Z UMLS:C1860710 @@ -327754,7 +328062,7 @@ - Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina. + Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disk diameter in size and tending to be located in the midperiphery of the retina. PMID:11264130 @@ -337692,19 +338000,19 @@ - Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. + Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. 2009-05-02T06:43:07Z UMLS:C4024160 Persistence of the hyaloid artery Persistent hyaloid artery HP:0009922 - Vascular remnant arising from the disc + Vascular remnant arising from the disk - Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. + Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. PMID:23772130 @@ -358241,7 +358549,7 @@ - The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. + The normal epiphysis of the third metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. 2009-07-02T04:10:52Z UMLS:C4023961 @@ -358251,7 +358559,7 @@ - The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. + The normal epiphysis of the third metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. @@ -358349,7 +358657,7 @@ - The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. + The normal epiphysis of the fourth metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. 2009-07-02T04:12:04Z UMLS:C4023959 @@ -358359,7 +358667,7 @@ - The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. + The normal epiphysis of the fourth metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. @@ -358473,7 +358781,7 @@ - The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. + The normal epiphysis of the fifth metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. 2009-07-02T04:13:20Z UMLS:C4023957 @@ -358483,7 +358791,7 @@ - The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. + The normal epiphysis of the fifth metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. @@ -375251,15 +375559,15 @@ - + - + - + @@ -375282,15 +375590,15 @@ - + - + - + @@ -379604,7 +379912,7 @@ - + @@ -379635,7 +379943,7 @@ - + @@ -380567,13 +380875,22 @@ + Longitudinal epiphyseal bracket or bracket epiphysis is an uncommon disorder of growth. Alternatively known as a delta phalanx, it is due to an anomalous secondary ossification center that extends longitudinally along the diaphysis. Although rare, longitudinal epiphyseal bracket most commonly manifests in the hands as clinodactyly and in the feet as hallux varus. sandra1 2009-10-22T02:53:19Z UMLS:C4023784 + Longitudinal epiphyseal bracket Triangular end part of bone + Triangular epiphyses HP:0010587 - Triangular epiphyses + Triangular epiphysis + + + + Longitudinal epiphyseal bracket or bracket epiphysis is an uncommon disorder of growth. Alternatively known as a delta phalanx, it is due to an anomalous secondary ossification center that extends longitudinally along the diaphysis. Although rare, longitudinal epiphyseal bracket most commonly manifests in the hands as clinodactyly and in the feet as hallux varus. + PMID:24432108 + @@ -380581,6 +380898,12 @@ + + + + Triangular epiphyses + + @@ -381439,7 +381762,7 @@ - A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour. + A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behavior. sandra1 2009-10-27T02:26:31Z UMLS:C1708604 @@ -381453,7 +381776,7 @@ - A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour. + A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behavior. PMID:18353202 @@ -383128,7 +383451,7 @@ - + @@ -383153,8 +383476,9 @@ 2009-12-17T04:56:17Z UMLS:C4023763 + Abnormality of the nasal cavity HP:0010640 - Abnormality of the nasal cavity + Abnormal nasal cavity morphology @@ -386346,7 +386670,7 @@ UMLS:C1851100 Mirror image duplication of digits HP:0010689 - Transplantation of the ZPA (zone of polarised activity) to the anterior margin of a limb bud in the chick results in mirror image duplication of limb elements (Tabin, 1991). Similarly, mirror image duplication in the forelimb of the mouse has been observed with ectopic expression of Hox b-8 (Charit6 et al, 1994). Mirror hand anomaly in humans has been shown to be due to either aberrant positioning of the ZPA or altered inductive interactions of the Shh gene resulting in impairment of the mechanism responsible for the organization and differentiation of the limb bud, rather than a primary duplication event. In other words, the primary event results in failure of the radial ray to develop. The ulnar area will then induce the differentiation of two groups of ulnar rays. Timing of this insult could play a critical role in severity of this phenotypic feature. Syndromal mirror hand is probably due to agene mutation of the Shh gene (Hersh et al, 1995). Finally, the multiple hand deformity may be explained by true duplication of the ZPA. + Transplantation of the ZPA (zone of polarized activity) to the anterior margin of a limb bud in the chick results in mirror image duplication of limb elements (Tabin, 1991). Similarly, mirror image duplication in the forelimb of the mouse has been observed with ectopic expression of Hox b-8 (Charit6 et al, 1994). Mirror hand anomaly in humans has been shown to be due to either aberrant positioning of the ZPA or altered inductive interactions of the Shh gene resulting in impairment of the mechanism responsible for the organization and differentiation of the limb bud, rather than a primary duplication event. In other words, the primary event results in failure of the radial ray to develop. The ulnar area will then induce the differentiation of two groups of ulnar rays. Timing of this insult could play a critical role in severity of this phenotypic feature. Syndromal mirror hand is probably due to agene mutation of the Shh gene (Hersh et al, 1995). Finally, the multiple hand deformity may be explained by true duplication of the ZPA. Mirror image polydactyly @@ -388555,7 +388879,7 @@ - Naevus flammeus localised in the skin of the eyelid. + Naevus flammeus localized in the skin of the eyelid. 2010-04-21T05:18:41Z UMLS:C1854409 @@ -388566,7 +388890,7 @@ - Naevus flammeus localised in the skin of the eyelid. + Naevus flammeus localized in the skin of the eyelid. @@ -392882,7 +393206,7 @@ UMLS:C0334082 Epidermal nevi HP:0010816 - Epidermal nevus arises from a defect in the ectoderm and in general are due to an overgrowth of keratinocytes. Subclasses of epidermal nevus include Linear epidermal naevus, epidermolytic epidermal naevus, acantholytic epidermal naevus, linear porokeratosis, and systematised epidermal naevus. Several other conditions are also characterised by benign overgrowth of the epidermis and its appendages (organoid naevi), including inflammatory linear verrucous epidermal naevus, sebaceous naevus, sweat gland naevi, comedone naevus, and Becker naevus. + Epidermal nevus arises from a defect in the ectoderm and in general are due to an overgrowth of keratinocytes. Subclasses of epidermal nevus include Linear epidermal naevus, epidermolytic epidermal naevus, acantholytic epidermal naevus, linear porokeratosis, and systematized epidermal naevus. Several other conditions are also characterized by benign overgrowth of the epidermis and its appendages (organoid naevi), including inflammatory linear verrucous epidermal naevus, sebaceous naevus, sweat gland naevi, comedone naevus, and Becker naevus. Epidermal nevus @@ -392924,7 +393248,7 @@ - A generalized tonic seizure is a type of generalized motor seizure characterised by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities. + A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities. 2010-07-10T03:03:51Z HP:0002184 @@ -392942,7 +393266,7 @@ - A generalized tonic seizure is a type of generalized motor seizure characterised by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities. + A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities. HPO_CONTRIBUTOR:jalbers PMID:11580774 @@ -394012,6 +394336,12 @@ Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy). + + + + EEG: localised slow activity + + @@ -394062,6 +394392,12 @@ EEG with generalised slow activity + + + + EEG: generalised slow activity + + @@ -394241,6 +394577,7 @@ UMLS:C4021214 EEG with generalised low amplitude activity EEG: generalised low amplitude activity + EEG: generalized low amplitude activity HP:0010854 EEG with generalized low amplitude activity @@ -394256,6 +394593,12 @@ EEG with generalised low amplitude activity + + + + EEG: generalised low amplitude activity + + @@ -394269,6 +394612,7 @@ UMLS:C4021213 EEG with localised low amplitude activity EEG: localised low amplitude activity + EEG: localized low amplitude activity HP:0010855 EEG with localized low amplitude activity @@ -394284,6 +394628,12 @@ EEG with localised low amplitude activity + + + + EEG: localised low amplitude activity + + @@ -403944,7 +404294,7 @@ UMLS:C0002726 Amyloid disease HP:0011034 - The medical literautre on amyloidosis is confused with clinical and histochemical designations used when the amyloid disease processes were poorly understood. To be designated an amyloid fibril protein, the protein must occur in tissue deposits and exhibit affinity for Congo red and green birefringence when viewed by polarisation microscopy. + The medical literautre on amyloidosis is confused with clinical and histochemical designations used when the amyloid disease processes were poorly understood. To be designated an amyloid fibril protein, the protein must occur in tissue deposits and exhibit affinity for Congo red and green birefringence when viewed by polarization microscopy. Amyloidosis @@ -409542,10 +409892,10 @@ - + - + Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis. 2011-06-10T07:46:38Z @@ -409556,7 +409906,7 @@ HP:0011110 Recurrent tonsillitis - + @@ -409587,7 +409937,7 @@ - + @@ -409637,8 +409987,9 @@ 2011-06-12T09:03:40Z MP:0010210 UMLS:C4023535 + Abnormality of serum cytokine level HP:0011112 - Abnormality of serum cytokine level + Abnormal circulating cytokine concentration @@ -409753,7 +410104,7 @@ - + @@ -409778,8 +410129,9 @@ 2011-06-12T09:14:25Z UMLS:C4023532 + Abnormality of chemokine secretion HP:0011115 - Abnormality of chemokine secretion + Abnormal circulating chemokine concentration @@ -409787,13 +410139,16 @@ - - An abnormality in the production or cellular release of interferons (a class of cytokines). + + The concentration of an interferon is outside the limits of normal. 2011-06-12T09:14:43Z + HP:0030354 UMLS:C4023531 + Abnormal serum interferon level + Abnormality of interferon secretion HP:0011116 - Abnormality of interferon secretion + Abnormal circulating interferon concentration @@ -409801,15 +410156,31 @@ - - An abnormality in the production or cellular release of interleukins (a class of cytokines). + + The concentration of an interleukin (a class of cytokines) is outside the limits of normal. 2011-06-12T09:16:10Z + HP:0030782 UMLS:C4023530 + Abnormal serum IL level + Abnormal serum interleukin level Abnormality of IL secretion + Abnormality of interleukin secretion HP:0011117 - Abnormality of interleukin secretion + Abnormal circulating interleukin concentration + + + + The concentration of an interleukin (a class of cytokines) is outside the limits of normal. + PMID:28487810 + + + + + Abnormal serum IL level + + @@ -410714,7 +411085,7 @@ 2011-06-19T11:04:20Z UMLS:C4021850 - Increased sensitivity to ionising radiation + Increased sensitivity to ionizing radiation HP:0011133 Ionizing radiation can lead to the production of free radicals, break chemical bonds, and damage DNA; RNA, and proteins. Cellular damage related to low doses such as that received from normal background radiation is rapidly repaired under normal conditions. Increased sensitivity to ionizing radiation @@ -410728,7 +411099,7 @@ - Increased sensitivity to ionising radiation + Increased sensitivity to ionizing radiation @@ -411161,7 +411532,7 @@ UMLS:C0036646 Clouding of the lens of the eye with age HP:0011141 - The lens is formed from ectodermal tissue and contains epithelial cells that give rise to lens fibres throughout life, so with increasing age the lens becomes more compact and thicker. + The lens is formed from ectodermal tissue and contains epithelial cells that give rise to lens fibers throughout life, so with increasing age the lens becomes more compact and thicker. Age-related cataract @@ -411191,7 +411562,7 @@ MSH:C563333 UMLS:C1832423 HP:0011142 - As the lens ages, new layers of fibres are added and the lens nucleus is compressed and becomes harder (nuclear sclerosis cataract), with associated yellowing of the lens. Nuclear sclerosis typically progresses slowly. + As the lens ages, new layers of fibers are added and the lens nucleus is compressed and becomes harder (nuclear sclerosis cataract), with associated yellowing of the lens. Nuclear sclerosis typically progresses slowly. Age-related nuclear cataract @@ -411213,7 +411584,7 @@ 2011-06-27T09:50:54Z UMLS:C2880562 HP:0011143 - The cortex of the lens is made of the newest lens fibres. With ageing, discrete opacities can develop within the cortex of the lens that typically cause no visual symptoms unless they involve the visual axis or the entire cortex, in which case the lens becomes white and is said to be mature. + The cortex of the lens is made of the newest lens fibers. With aging, discrete opacities can develop within the cortex of the lens that typically cause no visual symptoms unless they involve the visual axis or the entire cortex, in which case the lens becomes white and is said to be mature. Age-related cortical cataract @@ -411272,7 +411643,7 @@ - A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event. + A dialeptic seizure is a type of seizure characterized predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event. 2011-10-18T01:47:30Z Behavioral arrest seizure with impairment of awareness irrespective of onset Behavioural arrest seizure with impairment of awareness irrespective of onset @@ -411285,7 +411656,7 @@ - A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event. + A dialeptic seizure is a type of seizure characterized predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event. PMID:9738682 @@ -411294,6 +411665,12 @@ Behavioural arrest seizure with impairment of awareness irrespective of onset + + + + Unknown onset behavioural arrest seizure with impairment of awareness + + @@ -411301,7 +411678,7 @@ - A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event. + A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event. 2011-10-18T01:52:22Z MSH:D004832 @@ -411319,7 +411696,7 @@ - A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event. + A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event. HPO_CONTRIBUTOR:jalbers PMID:28276060 PMID:28276062 @@ -411352,7 +411729,7 @@ - An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterised by forced upward jerking of the eyelids during an absence seizure. + An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterized by forced upward jerking of the eyelids during an absence seizure. 2011-10-18T02:03:21Z UMLS:C4023513 @@ -411364,7 +411741,7 @@ - An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterised by forced upward jerking of the eyelids during an absence seizure. + An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterized by forced upward jerking of the eyelids during an absence seizure. HPO_CONTRIBUTOR:jalbers PMID:19469840 PMID:28276060 @@ -411384,7 +411761,7 @@ - Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterised by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017. + Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterized by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017. 2011-10-18T02:04:35Z UMLS:C4023512 @@ -411396,7 +411773,7 @@ - Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterised by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017. + Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterized by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017. PMID:28276060 PMID:28276062 @@ -411654,7 +412031,7 @@ - A type of focal autonomic seizure characterised by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature. + A type of focal autonomic seizure characterized by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature. 2011-10-18T02:27:58Z UMLS:C4023506 @@ -411672,7 +412049,7 @@ - A type of focal autonomic seizure characterised by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature. + A type of focal autonomic seizure characterized by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature. HPO_CONTRIBUTOR:jalbers PMID:28276060 @@ -411835,7 +412212,7 @@ - A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation. + A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation. 2011-10-18T02:31:15Z HP:0007175 @@ -411853,7 +412230,7 @@ - A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation. + A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation. HPO_CONTRIBUTOR:jalbers @@ -412001,7 +412378,7 @@ - Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups. + Generalized clonic seizure is a type of generalized motor seizure characterized by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups. 2011-11-19T09:53:43Z UMLS:C4023499 @@ -412019,7 +412396,7 @@ - Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups. + Generalized clonic seizure is a type of generalized motor seizure characterized by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups. HPO_CONTRIBUTOR:jalbers PMID:28276060 PMID:28276064 @@ -412169,13 +412546,14 @@ Focal hypokinetic seizure Hypokinetic seizure Hypokinetic seizures + Localised seizure with behavioral arrest Localised seizure with behavioural arrest Localized seizure with behavioral arrest Partial hypokinetic seizure Partial seizure with behavior arrest Partial seizure with behaviour arrest HP:0011173 - The word 'focal' is explicit in the term title to emphasise the difference between these seizures and absence (generalised non-motor) seizures. Because brief behavior arrest is common and difficult to identify at the start of many seizures, the arrest must be persistent and dominant through the entire seizure. If the patient is able to identify that fear is the primary onset feature of the seizure, and results in immobility, the seizure is a focal emotional seizure with fear, and the immobility is then considered a descriptive feature, due to the fear. If the focal seizure is not characterized by this feature at the very outset of the seizure, it is not used to classify the seizure, it is instead used as a seizure descriptor, after the seizure is classified according to its onset feature. + The word 'focal' is explicit in the term title to emphasize the difference between these seizures and absence (generalized non-motor) seizures. Because brief behavior arrest is common and difficult to identify at the start of many seizures, the arrest must be persistent and dominant through the entire seizure. If the patient is able to identify that fear is the primary onset feature of the seizure, and results in immobility, the seizure is a focal emotional seizure with fear, and the immobility is then considered a descriptive feature, due to the fear. If the focal seizure is not characterized by this feature at the very outset of the seizure, it is not used to classify the seizure, it is instead used as a seizure descriptor, after the seizure is classified according to its onset feature. Focal behavior arrest seizure @@ -412197,6 +412575,12 @@ Hypokinetic seizures + + + + Localised seizure with behavioural arrest + + @@ -412245,7 +412629,7 @@ - A type of focal motor seizure characterised by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation. + A type of focal motor seizure characterized by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation. 2011-11-19T10:14:54Z MSH:D020938 @@ -412259,7 +412643,7 @@ - A type of focal motor seizure characterised by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation. + A type of focal motor seizure characterized by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation. HPO_CONTRIBUTOR:jalbers @@ -415773,7 +416157,7 @@ - + @@ -418961,7 +419345,7 @@ - Hair that lacks the lustre (shine or gleam) of normal hair. + Hair that lacks the luster (shine or gleam) of normal hair. 2012-03-01T04:24:09Z HP:0200077 @@ -418976,7 +419360,7 @@ - Hair that lacks the lustre (shine or gleam) of normal hair. + Hair that lacks the luster (shine or gleam) of normal hair. @@ -421481,7 +421865,7 @@ - Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately. + Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labor has not progressed adequately. 2012-03-15T09:59:31Z MSH:D014620 @@ -421498,7 +421882,7 @@ - Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately. + Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labor has not progressed adequately. @@ -425376,7 +425760,7 @@ MSH:D008269 SNOMEDCT_US:193387007 UMLS:C0024440 - Cystoid macular oedema + Cystoid macular edema HP:0011505 CME can occur with Irvine-Gass syndrome and other disorders. Cystoid macular edema @@ -427802,7 +428186,7 @@ 2012-04-08T01:34:42Z UMLS:C4023282 HP:0011587 - The normal aortic arch crosses the left mainstem bronchus and descends in the left paravertebral gutter. The coronary arteries arise from the aortic sinuses. The first branch of the aorta is normally the right brachiocephalic artery, then the left common carotid artery, then the left subclavian artery. Abnormal branching refers to any deviance from the norm of the origin or course of these branches or the proximal vertebral arteries. An anomaly of the aortic arch that results in complete encirclement of the trachea and oesophagus by vascular structures is a vascular ring. + The normal aortic arch crosses the left mainstem bronchus and descends in the left paravertebral gutter. The coronary arteries arise from the aortic sinuses. The first branch of the aorta is normally the right brachiocephalic artery, then the left common carotid artery, then the left subclavian artery. Abnormal branching refers to any deviance from the norm of the origin or course of these branches or the proximal vertebral arteries. An anomaly of the aortic arch that results in complete encirclement of the trachea and esophagus by vascular structures is a vascular ring. Abnormal branching pattern of the aortic arch @@ -433297,7 +433681,7 @@ 2012-04-22T06:11:09Z SNOMEDCT_US:267374005 UMLS:C0342122 - Thyrotoxicosis with diffuse goitre + Thyrotoxicosis with diffuse goiter HP:0011784 Thyrotoxicosis with diffuse goiter @@ -437863,21 +438247,21 @@ - Significant maternal haemorrhage/blood loss following deilvery of a child. + Significant maternal hemorrhage/blood loss following deilvery of a child. 2012-06-02T11:35:46Z MSH:D006473 SNOMEDCT_US:47821001 UMLS:C0032797 Bleeding post-delivery - Post-partum haemorrhage + Post-partum hemorrhage HP:0011891 Post-partum hemorrhage - Significant maternal haemorrhage/blood loss following deilvery of a child. + Significant maternal hemorrhage/blood loss following deilvery of a child. @@ -440325,7 +440709,7 @@ - A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine. + A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centers are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centers; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine. 2012-06-21T09:27:07Z UMLS:C4023109 @@ -440335,7 +440719,7 @@ - A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine. + A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centers are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centers; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine. PMID:21481240 @@ -444562,7 +444946,7 @@ - A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed. + A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discolored skin and usually displays a size above 6 mm and often several centimeters or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed. 2012-08-01T02:17:02Z SNOMEDCT_US:16974005 @@ -444574,7 +444958,7 @@ - A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed. + A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discolored skin and usually displays a size above 6 mm and often several centimeters or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed. @@ -445095,7 +445479,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any deviation from the normal concentration in the blood circulation of an acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine. 2012-08-11T09:03:41Z @@ -445383,7 +445827,7 @@ 2012-08-18T04:41:05Z UMLS:C4023055 HP:0012079 - Nerve conduction velocity in the central motor pathways of the brain and spinal cord can be studied by methods including transcutaneous electrical stimulation of the cortex, cervical cord, thoracic cord and conus medullaris and determination of motor latencies to various muscles. This measure is thought to represent conduction in large diameter fibres in the corticospinal tracts. + Nerve conduction velocity in the central motor pathways of the brain and spinal cord can be studied by methods including transcutaneous electrical stimulation of the cortex, cervical cord, thoracic cord and conus medullaris and determination of motor latencies to various muscles. This measure is thought to represent conduction in large diameter fibers in the corticospinal tracts. Abnormality of central motor conduction @@ -445727,7 +446171,6 @@ SNOMEDCT_US:167239007 UMLS:C0522153 Abnormal urinary color - Abnormal urinary colour Abnormal urine color Abnormal urine colour HP:0012086 @@ -445745,12 +446188,6 @@ Abnormal urinary color - - - - Abnormal urinary colour - - @@ -445838,7 +446275,6 @@ SNOMEDCT_US:8769003 UMLS:C0278045 Abnormal urinary odor - Abnormal urinary odour Abnormal urine smell HP:0012088 Urine does not usually have a strong smell, but the odor may be altered by a number of factors including some diseases. Foul-smelling urine may be due to bacteria that have caused a urinary tract infection. Sweet-smelling urine may be a sign of uncontrolled diabetes or more rarely a disease of metabolism. Liver disease and certain metabolic disorders may cause musty-smelling urine. @@ -445856,12 +446292,6 @@ Abnormal urinary odor - - - - Abnormal urinary odour - - @@ -446783,6 +447213,7 @@ 2012-09-08T03:53:33Z UMLS:C4023039 HP:0012106 + This term implies that the fibula and tibia are not substantially shortened. Rhizomelic leg shortening @@ -446880,7 +447311,7 @@ UMLS:C0339573 Primary open angle glaucoma HP:0012108 - Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disc ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis. + Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disk ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis. Open angle glaucoma @@ -446907,7 +447338,7 @@ Narrow angle glaucoma Primary angle closure glaucoma HP:0012109 - Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disc ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis. + Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disk ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis. Angle closure glaucoma @@ -447948,7 +448379,7 @@ - Death of cells in the basal ganglia. + Death of cells in the basal ganglia. This finding can be confirmed by autopsy. It can be suspected with hyperintensities within the basal ganglia on FLAIR and T2-sequences on magnetic resonance imaging. 2012-09-16T07:00:22Z UMLS:C4023035 @@ -447958,8 +448389,9 @@ - Death of cells in the basal ganglia. + Death of cells in the basal ganglia. This finding can be confirmed by autopsy. It can be suspected with hyperintensities within the basal ganglia on FLAIR and T2-sequences on magnetic resonance imaging. + PMID:33198265 @@ -452110,7 +452542,7 @@ UMLS:C4020730 Increased muscle lipid droplets HP:0012240 - In normal muscle cells, lipid content takes the aspect of small droplets which concentration and size are usually higher in type 1 fibres than in type 2 fibres. + In normal muscle cells, lipid content takes the aspect of small droplets which concentration and size are usually higher in type 1 fibers than in type 2 fibers. Increased intramyocellular lipid droplets @@ -456498,7 +456930,7 @@ 2013-09-15T09:29:59Z UMLS:C4022944 HP:0012347 - Essentially, all proteins (except albumin) that travel through the ER-Golgi network undergo N-linked glycosylation. Glycans promote protein folding, stability, trafficking, localisation, and oligomerisation. They play vital parts in cell-cell interactions and intracellular signalling. + Essentially, all proteins (except albumin) that travel through the ER-Golgi network undergo N-linked glycosylation. Glycans promote protein folding, stability, trafficking, localisation, and oligomerisation. They play vital parts in cell-cell interactions and intracellular signaling. Abnormal protein N-linked glycosylation @@ -460059,7 +460491,7 @@ UMLS:C0029128 Optic nerve head drusen HP:0012426 - Optic disc drusen can lead to an elevated disc and thus mimic disc swelling (pseudopapilledema). + Optic disc drusen can lead to an elevated disk and thus mimic disk swelling (pseudopapilledema). Optic disc drusen @@ -460382,7 +460814,6 @@ UMLS:C4020726 UMLS:C4021087 Abnormal social behavior - Abnormal social behaviour Abnormal social interactions HP:0012433 Abnormal social behavior @@ -460397,16 +460828,6 @@ - - - - Abnormal social behaviour - - - - - - @@ -462665,7 +463086,7 @@ - Inflammation of adipose tissue. + Inflammation of subcutaneous adipose tissue. 2013-11-29T09:28:11Z MSH:D015434 @@ -462680,8 +463101,9 @@ - Inflammation of adipose tissue. + Inflammation of subcutaneous adipose tissue. + PMID:20666823 @@ -463678,18 +464100,19 @@ - An abnormally decreased amount of catalase level. + Activity or concentration of catalase in the blood circulation below the lower limit of normal. 2013-12-09T06:49:18Z UMLS:C4022869 + Reduced catalase level HP:0012517 Catalase catalyzes the decomposition of hydrogen peroxide to water and oxygen. - Reduced catalase level + Reduced circulating catalase activity - An abnormally decreased amount of catalase level. + Activity or concentration of catalase in the blood circulation below the lower limit of normal. @@ -463798,7 +464221,7 @@ Perivascular spaces Dilated cerebral perivascular spaces HP:0012520 - Virchow-Robin spaces are commonly seen at magnetic resonance imaging. These perivascular spaces as fluid-filled spaces that follow the typical course of a vessel as it goes through grey or white matter. The spaces have signal intensity similar to that of cerebrospinal fluid (CSF) on all magnetic resonance sequences. + Virchow-Robin spaces are commonly seen at magnetic resonance imaging. These perivascular spaces as fluid-filled spaces that follow the typical course of a vessel as it goes through gray or white matter. The spaces have signal intensity similar to that of cerebrospinal fluid (CSF) on all magnetic resonance sequences. Dilation of Virchow-Robin spaces @@ -463967,7 +464390,7 @@ - A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears. + A lack of platelet alpha granules. This typically results in the gray appearance of platelets in giemsa stained blood smears. 2013-12-15T08:57:46Z UMLS:C4022864 @@ -463979,7 +464402,7 @@ - A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears. + A lack of platelet alpha granules. This typically results in the gray appearance of platelets in giemsa stained blood smears. PMID:3877532 @@ -467356,7 +467779,7 @@ - + @@ -468107,7 +468530,7 @@ Phacodonesis Trembling eye lens HP:0012629 - Phacodonesis results from lesions of some or most of the zonular fibres are broken. + Phacodonesis results from lesions of some or most of the zonular fibers are broken. Phakodonesis @@ -472579,7 +473002,7 @@ Cough Coughing HP:0012735 - The European Respiratory Society Task Force recommended two possible definitions of cough: (1) A three-phase expulsive motor act characterized by an inspiratory effort (inspiratory phase) followed by a forced expiratory effort against a closed glottis (compressive phase) and then by opening of the glottis and rapid expiratory airflow (expulsive phase);and (2) A forced expiratory manoeuvre, usually against a closed glottis and associated with a characteristic sound. The term Cough or any of its more specific descendents can be modified by the terms Acute (HP:0011009), Subacute (HP:0011011), and Chronic (HP:0011010). In adults, an acute cough lasts less than 3 weeks, a subacute cough from 3 to 8 weeks, and a chronic cough longer than 8 weeks. In children aged less than 15 years a chronic cough is defined as a daily cough lasting for over 4 weeks. + The European Respiratory Society Task Force recommended two possible definitions of cough: (1) A three-phase expulsive motor act characterized by an inspiratory effort (inspiratory phase) followed by a forced expiratory effort against a closed glottis (compressive phase) and then by opening of the glottis and rapid expiratory airflow (expulsive phase);and (2) A forced expiratory maneuver, usually against a closed glottis and associated with a characteristic sound. The term Cough or any of its more specific descendents can be modified by the terms Acute (HP:0011009), Subacute (HP:0011011), and Chronic (HP:0011010). In adults, an acute cough lasts less than 3 weeks, a subacute cough from 3 to 8 weeks, and a chronic cough longer than 8 weeks. In children aged less than 15 years a chronic cough is defined as a daily cough lasting for over 4 weeks. Cough @@ -474845,9 +475268,9 @@ - + - + A lack of bone mineralization of one or more body of thoracic vertebra. 2014-04-24T11:05:14Z @@ -474855,7 +475278,7 @@ HP:0012792 Absent ossification of thoracic vertebral bodies - + @@ -474896,7 +475319,7 @@ - + @@ -475019,24 +475442,38 @@ - An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells. + An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disk. The optic disc has an orange-pink rim with a pale center (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells. 2014-05-24T04:43:52Z UMLS:C3805911 Elevated cup to disc ratio + Elevated cup to disk ratio Increased cup disc ratio + Increased cup disk ratio Optic cupping HP:0012796 - A cup to disc ratio of 0.3 is generally considered normal. Note that the ratio is measured in the vertical orientation unless otherwise specified. + A cup to disk ratio of 0.3 is generally considered normal. Note that the ratio is measured in the vertical orientation unless otherwise specified. Increased cup-to-disc ratio - An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells. + An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disk. The optic disc has an orange-pink rim with a pale center (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells. PMID:23557744 + + + + Elevated cup to disc ratio + + + + + + Increased cup disc ratio + + @@ -476222,7 +476659,7 @@ UMLS:C0027059 Inflammation of heart muscle HP:0012819 - Myocarditis can be caused by a variety of bacterial and viral infections. Enteroviruses, especially coxsackievirus B, and adenovirus and parvovirus B19 are often associated with acute myocarditis. Exposure to drug treatment, physical stimuli such as radiation and heat, metabolic disorders, immune disorders, and pregnancy are also causes of myocarditis. Many cases of myocarditis are idiopathic. Myocarditis presents with non-specific symptoms including chest pain, dyspnoea, and palpitations, and thus often mimics more common disorders such as coronary artery disease. In some patients, cardiac MRI and endomyocardial biopsy can help identify myocarditis, predict risk of cardiovascular events, and guide treatment. + Myocarditis can be caused by a variety of bacterial and viral infections. Enteroviruses, especially coxsackievirus B, and adenovirus and parvovirus B19 are often associated with acute myocarditis. Exposure to drug treatment, physical stimuli such as radiation and heat, metabolic disorders, immune disorders, and pregnancy are also causes of myocarditis. Many cases of myocarditis are idiopathic. Myocarditis presents with non-specific symptoms including chest pain, dyspnea, and palpitations, and thus often mimics more common disorders such as coronary artery disease. In some patients, cardiac MRI and endomyocardial biopsy can help identify myocarditis, predict risk of cardiovascular events, and guide treatment. Myocarditis @@ -479200,7 +479637,7 @@ - A coloboma of the ciliary body. + A coloboma of the ciliary body. UMLS:C4072884 Ciliary body coloboma @@ -479324,7 +479761,7 @@ - An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye. + An ocular movement abnormality characterized by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye. 2017-12-20T17:12:54Z Double depressor palsy @@ -479332,7 +479769,7 @@ - An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye. + An ocular movement abnormality characterized by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye. @@ -479680,26 +480117,12 @@ - - An abnormal elevation above normal hemoglobin concentration in the circulation. + HP:0001900 2018-09-28T23:53:24Z - Increased Hb concentration - Increased haemoglobin concentration - Increased hemoglobin concentration + obsolete Increased hemoglobin concentration + true - - - - Increased Hb concentration - - - - - - Increased haemoglobin concentration - - @@ -480243,7 +480666,7 @@ Fungal infection characterized by invasion of host tissues. 2019-04-08T19:11:15Z - Invasive fungal infections are a significant health problem in immunocompromised patients. Major risk factors for IFI include neutropenia less than 500 neutrophils/ml for more than 10 days, haematological malignancies, bone marrow transplantation, prolonged (over 4 wk) treatment with corticosteroids; prolonged (over 7 days) stays in intensive care, chemotherapy, HIV infection, invasive medical procedures, and the newer immune suppressive agents. + Invasive fungal infections are a significant health problem in immunocompromised patients. Major risk factors for IFI include neutropenia less than 500 neutrophils/ml for more than 10 days, hematological malignancies, bone marrow transplantation, prolonged (over 4 wk) treatment with corticosteroids; prolonged (over 7 days) stays in intensive care, chemotherapy, HIV infection, invasive medical procedures, and the newer immune suppressive agents. Invasive fungal infection @@ -480259,7 +480682,7 @@ - An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnoea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing. + An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing. 2019-04-08T19:15:19Z Pneumocystis, initially considered to be a protozoan, later has been assigned to the kingdom of fungi. @@ -480268,7 +480691,7 @@ - An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnoea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing. + An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing. PMID:26281787 @@ -480750,7 +481173,7 @@ 2019-07-02T16:34:14Z Abnormal retinal nerve fibre layer morphology - The retinal nerve fiber layer consists of unmyelinated ganglion cell axons coursing on the vitreal surface of the retina to the optic disk. These axons become myelinated after entering the optic nerve. + The retinal nerve fiber layer consists of unmyelinated ganglion cell axons coursing on the vitreal surface of the retina to the optic disc. These axons become myelinated after entering the optic nerve. Abnormal retinal nerve fiber layer morphology @@ -481337,7 +481760,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + An increase concentration of succinate in the blood circulation. 2019-07-05T19:49:33Z @@ -481493,7 +481976,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + An increased concentration of adrenic acid (also known as cis-7,10,13,16-Docosatetraenoic acid) in the blood circulation. 2019-07-06T19:34:06Z @@ -481801,16 +482344,17 @@ - A decreased amount of cholinesterase in the blood circulation. + Activity or concentration of cholinesterase in the blood circulation below the lower limit of normal. 2019-07-06T22:04:04Z + Reduced cholinesterase level Serum cholinesterase (butyrylcholinesterase (BChE)) is an enzyme that hydrolyzes acetylcholine. BChE is synthetized in the liver and has conventionally been used as a liver function test. - Reduced cholinesterase level + Reduced circulating cholinesterase activity - A decreased amount of cholinesterase in the blood circulation. + Activity or concentration of cholinesterase in the blood circulation below the lower limit of normal. PMID:29853783 @@ -481996,7 +482540,7 @@ - + A measurable change in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure. 2019-07-24T16:39:04Z @@ -482351,7 +482895,7 @@ - Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. + Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z disks. 2019-12-23T15:56:20Z Abnormal sarcomere morphology @@ -482363,16 +482907,16 @@ - Any structural anomaly of the Z disc, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. + Any structural anomaly of the Z disk, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. 2019-12-23T15:57:40Z Z-discs (Z-disk, Z-line, Z-band) delineate the lateral borders of sarcomeres and are the smallest functional units in striated muscle. The core of a Z-disc consists of actin filaments coming from adjacent sarcomeres which are crosslinked by alpha-actinin molecules. Z-discs, which are difficult to detect in conventional light microscopy, appear in the longitudinal view of electron microscopy as electron dense bands with varying sizes, ranging from 30 to 50 nm in fast muscle and 100 t0 140 nm in slow muscle and cardiac myocytes. - Abnormal Z disc morphology + Abnormal Z disk morphology - Any structural anomaly of the Z disc, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. + Any structural anomaly of the Z disk, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. PMID:22028589 @@ -482382,7 +482926,7 @@ - Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disc may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change. + Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disk may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change. 2019-12-23T15:58:23Z Z-band streaming @@ -482390,7 +482934,7 @@ - Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disc may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change. + Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disk may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change. PMID:1180479 PMID:22028589 @@ -483866,8 +484410,8 @@ SNOMEDCT_US:6654000 UMLS:C0264134 Arthritis of the big toe - Hallux rigidus is characterised by arthralgia, which is usually worsened by walking. With time the joint enlarges and the symptoms become more pronounced with pain at the dorsal bony prominence of the first metatarsophalengeal joint (MTPJ) and decreased range of motion, especially dorsiflexion. In this process the destruction of the cartilage commonly starts at the dorsal portion of the metatarsal head and the bony prominence might impinge against the proximal phalanx.. Physical examination usually shows a painful, tender and swollen first MTPJ with limited motion and pain usually when dorsiflexed. Typical radiographic findings are asymmetric joint narrowing and a flattened metatarsal head. With advancement of the disease more of the joint surface is involved and subchondral cysts, sclerosis and bony proliferation at the joint margins occur and the joint narrowing progresses [PMID:24649409]. - Hallux rigidus + Hallux rigidus is characterized by arthralgia, which is usually worsened by walking. With time the joint enlarges and the symptoms become more pronounced with pain at the dorsal bony prominence of the first metatarsophalengeal joint (MTPJ) and decreased range of motion, especially dorsiflexion. In this process the destruction of the cartilage commonly starts at the dorsal portion of the metatarsal head and the bony prominence might impinge against the proximal phalanx.. Physical examination usually shows a painful, tender and swollen first MTPJ with limited motion and pain usually when dorsiflexed. Typical radiographic findings are asymmetric joint narrowing and a flattened metatarsal head. With advancement of the disease more of the joint surface is involved and subchondral cysts, sclerosis and bony proliferation at the joint margins occur and the joint narrowing progresses [PMID:24649409]. + Hallux rigidus @@ -483892,7 +484436,7 @@ Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself. 2016-08-06T22:31:55Z - Thickening of glomerular capillary wall + Thickening of glomerular capillary wall @@ -483912,7 +484456,7 @@ 2016-08-06T22:53:26Z Abnormalities of the glomerular capillary wall - Abnormal glomerular capillary morphology + Abnormal glomerular capillary morphology @@ -483925,7 +484469,7 @@ 2016-08-06T23:07:53Z Ectopic macula - Ectopic fovea + Ectopic fovea @@ -483937,7 +484481,7 @@ Downward movement of the trachea during inspiration due to downward traction on the tracheobronchial tree. 2016-08-06T23:22:12Z - Tracheal tug on inspiration + Tracheal tug on inspiration @@ -483958,7 +484502,7 @@ Forward directed upper incisors Proclination of the upper incisors Protruding upper incisors - Forward slanting upper incisors + Forward slanting upper incisors @@ -483971,7 +484515,7 @@ 2016-08-07T13:52:09Z Loss of foveal tissue (atrophy) may be inferred by a medical history of loss of vision and the observation of a foveal lesion such as reduced foveal thickness on optical coherence tomography (OCT). - Foveal atrophy + Foveal atrophy @@ -483990,7 +484534,7 @@ 2016-08-07T22:32:49Z Congenital nasal pyriform aperture stenosis (CNPAS) is a rare cause of nasal airway obstruction that clinically mimics choanal atresia, but needs to be differentiated from the latter because of the widely divergent modes of management [PMID:21423901]. - Pyriform aperture stenosis + Pyriform aperture stenosis @@ -484008,7 +484552,7 @@ Diffusely widened perivascular spaces in the basal ganglia, affecting especially the corpus striatum. Status cribrosum is usually symmetrical, with the perivascular spaces showing CSF signal and without diffusion restriction. The word cribriform means sievelike, with multiple perforations. 2016-08-07T23:40:40Z - Status cribrosum + Status cribrosum @@ -484028,7 +484572,7 @@ Decerebrate posturing Decerebrate rigidity results from release of vestibular nuclei from cerebral control because of a brainstem lesion (i.e., decerebration). - Decerebrate rigidity + Decerebrate rigidity @@ -484047,7 +484591,7 @@ 2016-08-12T11:18:11Z This feature can be observed in individuals with the classic type of Ehlers Danlos syndrome. - Subcutaneous spheroids + Subcutaneous spheroids @@ -484105,7 +484649,7 @@ 2016-08-12T11:24:56Z - Abnormal vascular morphology + Abnormal vascular morphology @@ -484157,7 +484701,7 @@ A structural anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues. 2016-08-12T11:42:27Z - Abnormal capillary morphology + Abnormal capillary morphology @@ -484170,7 +484714,7 @@ 2016-08-12T11:50:33Z The formation of petechiae distal to a tourniquet or sphygmomanometer on release of pressure is known as the Rumpel-Leede sign. This sign was reported in 1909 by Theodor Rumpel, and again independently in 1911 by Carl Stockbridge Leede. Historically, the tourniquet test (or Rumpel-Leede Capillary-Fragility Test) was used to assess patients for thrombocytopenia and capillary fragility. Today, the Rumpel-Leede sign may be observed iatrogenically in the context of continuous blood-pressure monitoring [PMID:24382085]. - Capillary fragility + Capillary fragility @@ -484222,7 +484766,7 @@ A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues. 2016-08-12T11:56:48Z - Abnormal capillary physiology + Abnormal capillary physiology @@ -484234,7 +484778,7 @@ Sudden breakage of an artery leading to leakage of blood from the circulation. 2016-08-12T12:03:50Z - Arterial rupture + Arterial rupture @@ -484253,7 +484797,7 @@ 2016-08-12T12:13:13Z Prostate-specific antigen (PSA) screening for prostate cancer has been common practice although the utility of general PSA screening has been called into question. - Elevated prostate-specific antigen level + Elevated prostate-specific antigen level @@ -484273,7 +484817,7 @@ Abnormal ESR Abnormal Westergren sedimentation rate - Abnormal erythrocyte sedimentation rate + Abnormal erythrocyte sedimentation rate @@ -484300,7 +484844,7 @@ Decreased ESR Low ESR - Decreased erythrocyte sedimentation rate + Decreased erythrocyte sedimentation rate @@ -484374,7 +484918,7 @@ 2016-08-26T11:13:58Z Atresia of the rectum - Rectal atresia + Rectal atresia @@ -484393,8 +484937,8 @@ An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or muscular abnormalities, which remains after disimpaction of the rectum. 2016-08-26T11:18:38Z - Patients with idiopathic megarectum have a dilated rectum but the proximal colon is usually of normal diameter. The condition usually starts in childhood or adolescence, and faecal impaction is common. By contrast, patients with idiopathic megacolon usually do not experience impaction, and the symptoms often begin in adult life [PMID:9301507]. - Megarectum + Patients with idiopathic megarectum have a dilated rectum but the proximal colon is usually of normal diameter. The condition usually starts in childhood or adolescence, and fecal impaction is common. By contrast, patients with idiopathic megacolon usually do not experience impaction, and the symptoms often begin in adult life [PMID:9301507]. + Megarectum @@ -484415,7 +484959,7 @@ Vestibular fistula The condition can cause feces and gas to exit the vaginal vestibule. - Rectovestibular fistula + Rectovestibular fistula @@ -484433,7 +484977,7 @@ Rectovestibular fistula with a normal anus is known as H-type fistula or double termination of the alimentary tract. 2016-08-26T11:58:54Z - H-type rectovestibular fistula + H-type rectovestibular fistula @@ -484454,7 +484998,7 @@ Cutaneous osteosis Miliary osteoma Osteomatosis - Osteoma cutis + Osteoma cutis @@ -484515,9 +485059,9 @@ A structural anomaly of nerves of the enteric nervous system. 2016-08-27T11:10:48Z - Abnormality of enteric nervous system morphology + Abnormality of enteric nervous system morphology The enteric nervous system represents a collection of about 500 million neurons that control virtually all gut functions (including motility), largely independent from the central nervous system. The enteric nervous system is located in the gut wall and extends throughout its length from the esophagus to the internal anal sphincter. - Abnormal enteric nervous system morphology + Abnormal enteric nervous system morphology @@ -484568,8 +485112,8 @@ 2016-08-27T11:22:10Z - Abnormality of enteric neuron morphology - Abnormal enteric neuron morphology + Abnormality of enteric neuron morphology + Abnormal enteric neuron morphology @@ -484622,7 +485166,7 @@ 2016-08-27T11:43:00Z Degenerative enteric neuropathy - Enteric neuronal degeneration + Enteric neuronal degeneration @@ -484674,7 +485218,7 @@ 2016-08-27T13:44:32Z Any anomaly of the digestive system, a collection of organs that is made up of the gastrointestinal tract and the liver, pancreas, and gallbladder. The gastrointestinal tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus, including the mouth, esophagus, stomach, small intestine, large intestine and anus. - Abnormality of the digestive system + Abnormality of the digestive system @@ -484726,7 +485270,7 @@ A functional anomaly of the digestive system. 2016-08-27T13:58:05Z - Abnormality of digestive system physiology + Abnormality of digestive system physiology @@ -484778,8 +485322,8 @@ A structural anomaly of the digestive system. 2016-08-27T13:58:23Z - Abnormality of digestive system morphology - Abnormal digestive system morphology + Abnormality of digestive system morphology + Abnormal digestive system morphology @@ -484831,7 +485375,7 @@ Abnormal form of the progenitor cells committed to the erythroid lineage. 2016-09-02T11:14:05Z - Abnormal morphology of erythroid progenitor cell + Abnormal morphology of erythroid progenitor cell @@ -484883,7 +485427,7 @@ Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers. 2016-09-02T11:16:54Z - Abnormal proerythroblast morphology + Abnormal proerythroblast morphology @@ -484955,7 +485499,7 @@ Focal proliferation of glial cells in the hypothalamus. 2016-09-20T10:59:06Z - Hypothalamic gliosis + Hypothalamic gliosis @@ -485036,7 +485580,7 @@ 2016-09-21T11:02:09Z Testicular abscess - Intratesticular abscess + Intratesticular abscess @@ -485094,10 +485638,10 @@ Swelling within the basal ganglia due to the accumulation of fluid. 2016-09-25T14:00:54Z - Basal ganglia oedema + Basal ganglia edema Edema of the basal ganglia Oedema of the basal ganglia - Basal ganglia edema + Basal ganglia edema @@ -485151,8 +485695,8 @@ Edema of the thalamus Oedema of the thalamus - Thalamic oedema - Thalamic edema + Thalamic edema + Thalamic edema @@ -485204,7 +485748,7 @@ Calcium deposition in the thalamus. 2016-09-25T14:15:01Z - Thalamic calcification + Thalamic calcification @@ -485216,7 +485760,7 @@ A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery. 2016-09-25T14:21:49Z - Abnormality of mesenteric lymph nodes + Abnormality of mesenteric lymph nodes @@ -485229,7 +485773,7 @@ 2016-09-25T14:26:25Z Mesenteric lymph nodes measured by CT as being larger than 10 mm are considered enlarged. - Enlarged mesenteric lymph node + Enlarged mesenteric lymph node @@ -485302,7 +485846,7 @@ A circumscribed area of pus or necrotic debris in lung parenchyma, which leads to a cavity, and after formation of bronchopulmonary fistula, can manifest as an air-fluid level inside the cavity. 2016-09-25T14:30:50Z - Lung abscess + Lung abscess @@ -485321,7 +485865,7 @@ 2016-09-25T16:43:58Z Abnormal lactate level by magnetic resonance spectroscopy - Abnormal brain lactate level by MRS + Abnormal brain lactate level by MRS @@ -485334,7 +485878,7 @@ 2016-09-25T16:45:22Z Reduced brain lactate level by magnetic resonance spectroscopy - Reduced brain lactate level by MRS + Reduced brain lactate level by MRS @@ -485347,7 +485891,7 @@ 2016-09-25T16:48:23Z Abnormal brain choline level by magnetic resonance spectroscopy - Abnormal brain choline level by MRS + Abnormal brain choline level by MRS @@ -485360,7 +485904,7 @@ 2016-09-25T16:49:14Z Reduced brain choline level by magnetic resonance spectroscopy - Reduced brain choline level by MRS + Reduced brain choline level by MRS @@ -485373,7 +485917,7 @@ Abnormal brain creatine level by magnetic resonance spectroscopy A deviation from normal in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS). - Abnormal brain creatine level by MRS + Abnormal brain creatine level by MRS @@ -485386,7 +485930,7 @@ 2016-09-26T08:46:45Z Elevated brain creatine level by magnetic resonance spectroscopy - Elevated brain creatine level by MRS + Elevated brain creatine level by MRS @@ -485400,7 +485944,7 @@ Low brain creatine phosphate Reduced brain creatine level by magnetic resonance spectroscopy - Reduced brain creatine level by MRS + Reduced brain creatine level by MRS @@ -485420,7 +485964,7 @@ 2016-09-26T08:50:52Z Abnormal brain N-acetyl aspartate level by magnetic resonance spectroscopy - Abnormal brain N-acetyl aspartate level by MRS + Abnormal brain N-acetyl aspartate level by MRS @@ -485433,7 +485977,7 @@ 2016-09-26T08:52:49Z Elevated brain N-acetyl aspartate level by magnetic resonance spectroscopy - Elevated brain N-acetyl aspartate level by MRS + Elevated brain N-acetyl aspartate level by MRS @@ -485485,8 +486029,8 @@ A structural anomaly of the olfactory lobe, the structure within the brain that receives neural input from the nasal cavity and thereby processes the sense of smell. 2016-09-26T09:03:16Z - Abnormality of olfactory lobe morphology - Abnormal olfactory lobe morphology + Abnormality of olfactory lobe morphology + Abnormal olfactory lobe morphology @@ -485539,7 +486083,7 @@ 2016-09-26T09:07:40Z Atrophy of the hypothalamus - Hypothalamic atrophy + Hypothalamic atrophy @@ -485612,7 +486156,7 @@ 2016-09-26T09:11:25Z Splenic abscesses generally occur in patients with neoplasia, immunodeficiency, trauma, metastatic infection, splenic infarct or diabetes. - Splenic abscess + Splenic abscess @@ -485631,7 +486175,7 @@ 2016-09-26T09:19:25Z Multilocular splenic abscess - Multifocal splenic abscess + Multifocal splenic abscess @@ -485645,7 +486189,7 @@ Solitary splenic abscess Unilocular splenic abscess - Unifocal splenic abscess + Unifocal splenic abscess @@ -485658,7 +486202,7 @@ 2016-09-26T09:47:56Z Geophagy - Geophagia + Geophagia @@ -485677,7 +486221,7 @@ 2016-09-26T09:54:43Z Scaphoid abdomen can be observed in diseases such as congenital diaphragmatic hernia (since the abdominal contents can be in the thorax). - Scaphoid abdomen + Scaphoid abdomen @@ -485689,9 +486233,9 @@ Bleeding in the thalamus. 2016-09-26T10:03:34Z - Thalamic haemorrhage + Thalamic hemorrhage Thalamic hemorrhage may be observed in individuals with hypertension. In both the acute and chronic phases of bleeding, prominent susceptibility effect, seen as hypointense blooming on sequences, is typically seen upon magnetic resonance imaging. - Thalamic hemorrhage + Thalamic hemorrhage @@ -485705,7 +486249,7 @@ Abnormal MCV Abnormal erythrocyte volume - Abnormal mean corpuscular volume + Abnormal mean corpuscular volume @@ -485726,7 +486270,7 @@ Decreased MCV Microcytosis Reduced erythrocyte volume - Decreased mean corpuscular volume + Decreased mean corpuscular volume @@ -485744,7 +486288,7 @@ Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort. 2016-09-26T10:25:28Z - Incomitant strabismus + Incomitant strabismus @@ -485763,7 +486307,7 @@ 2016-09-26T10:29:59Z Comitant strabismus - Concomitant strabismus + Concomitant strabismus @@ -485776,7 +486320,7 @@ 2016-09-26T10:36:56Z U waves represent prolonged repolarisation of myocardial M cells. Under normal conditions the M cells are electrically coupled to adjacent cell layers. However, in conditions that produce electrical uncoupling, these M cells have significant effects on repolarisation producing prolonged rounded ST-T waves or U waves. The finding of U wave inversion on an ECG at rest or baseline is a non-specific finding. It is significant when observed post exercise, being originally described in early 1940s. Subsequent studies in the late 1970s, demonstrated a significant correlation of U wave inversion with either left main or LAD disease. - Abnormal U wave + Abnormal U wave @@ -485795,7 +486339,7 @@ 2016-09-26T10:39:43Z Inverted U wave may be a sign of coronary artery disease, hypertension, valvular heart disease, congenital heart disease, cardiomyopathy, or hyperthyroidism. In individuals with acute chest pain, it may be a sign of myocardial ischemia. - U wave inversion + U wave inversion @@ -485808,7 +486352,7 @@ 2016-09-26T10:42:48Z Increased U wave amplitude - Prominent U wave + Prominent U wave @@ -485820,7 +486364,7 @@ U wave inversion that is induced by exercise stress testing. 2016-09-26T10:44:21Z - Exercise-induced U wave inversion + Exercise-induced U wave inversion @@ -485838,7 +486382,7 @@ An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram. 2016-09-26T10:46:17Z - Abnormal QRS complex + Abnormal QRS complex @@ -485850,7 +486394,7 @@ Elevation of the voltage (height) of the QRS complex. There are several criteria in use, but the most common is the Sokolov-Lyon criterion (S wave depth in V1 + tallest R wave height in V5-V6 greater than 35 mm). 2016-09-26T10:48:06Z - Increased QRS voltage + Increased QRS voltage @@ -485862,7 +486406,7 @@ Abnormal amplitude of the QRS complex of the electrocardiogram (EKG). 2016-09-26T10:50:26Z - Abnormal QRS voltage + Abnormal QRS voltage @@ -485874,7 +486418,7 @@ Reduced amplitude (height) of the QRS complex of the electrocardiogram (EKG), defined as amplitudes of all the QRS complexes in the limb leads are less than 5 mm or amplitudes of all the QRS complexes in the precordial leads less than 10 mm. 2016-09-26T10:50:45Z - Decreased QRS voltage + Decreased QRS voltage @@ -485886,7 +486430,7 @@ The QRS complexes of the electrocardiogram alternate in height. 2016-09-26T10:52:41Z - Electrical alternans + Electrical alternans @@ -485966,7 +486510,7 @@ 2016-09-26T11:01:28Z Pancreas abscess - Pancreatic abscess + Pancreatic abscess @@ -485979,7 +486523,7 @@ 2016-10-12T23:40:17Z Hyperkeratosis is most commonly orthokeratotic. - Orthokeratotic hyperkeratosis + Orthokeratotic hyperkeratosis @@ -485991,7 +486535,7 @@ A skin change elicited by briskly rubbing the skin lesion in urticaria pigmentosa (UP), whereby the area begins to itch and becomes raised and surrounded by erythema. Unlike other forms of dermatographism, Darier's sign refers to urtication that is limited to the UP involved areas and, as in this case, spares the skin unaffected by UP. 2016-10-12T23:46:34Z - Darier's sign + Darier's sign @@ -486011,7 +486555,7 @@ Abnormal cutaneous elastic fibre morphology Elastic fibers help the skin return to its normal configuration after being stretched or deformed. The elastic fibers consist of two components: microfibrils and matrix elastin. The microfibrillar component amounts to only 15% of the elastic fiber, whereas the amorphous, electron-lucid elastin makes up 85% of the fiber. In light microscope sections that are routinely stained, elastic fibers are inconspicuous. With special elastic tissue stains, such as orcein or resorcin-fuchisin, or in plastic-embedded sections they are found entwined among the collagen bundles [PMID:21738362]. - Abnormal cutaneous elastic fiber morphology + Abnormal cutaneous elastic fiber morphology @@ -486037,7 +486581,7 @@ 2016-10-15T13:13:02Z Disorders of elastosis may show an increased content of desmosines, whereas elastolytic disorders may show a reduced content of desmosine. - Elevated dermal desmosine content + Elevated dermal desmosine content @@ -486057,7 +486601,7 @@ Follicular pustule In contrast to folliculitis, perifolliculitis refers to inflammatory cells, usually lymphocytes, within the perifollicular tissues with focal extension into the adjacent reticular dermis. Folliculitis and perifolliculitis can occur independently or incombination owing to follicular disruption and irritation. - Folliculitis + Folliculitis @@ -486073,9 +486617,8 @@ Bloody stool Bloody bowel movement Bloody diarrhea - Bloody diarrhoea Diarrhea that contains bright red or maroon-colored blood may be referred to as hematochezia, while melena is used to describe black, tarry, and smelly diarrhea. - Bloody diarrhea + Bloody diarrhea @@ -486101,12 +486644,6 @@ Bloody diarrhea - - - - Bloody diarrhoea - - @@ -486117,8 +486654,8 @@ Passage of many stools containing blood and mucus. 2016-10-15T13:59:04Z - Bloody mucoid diarrhoea - Bloody mucoid diarrhea + Bloody mucoid diarrhea + Bloody mucoid diarrhea @@ -486131,7 +486668,7 @@ 2016-10-15T14:50:00Z see PMID:23919031 - Delayed recoil upon stretching of skin + Delayed recoil upon stretching of skin @@ -486144,7 +486681,7 @@ 2016-10-24T00:35:53Z Onychomadesis is defined as proximal nail plate separation from the nail matrix and nail bed caused by a temporary arrest in nail matrix activity, and may present as a Beau's line. - Onychomadesis + Onychomadesis @@ -486170,7 +486707,7 @@ Vomiting faecal matter Vomiting fecal matter Feculent vomiting is usually due to mechanical intestinal obstruction but it can be due to paralytic obstruction (adynamic ileus). - Feculent vomiting + Feculent vomiting @@ -486194,7 +486731,7 @@ A structural anomaly of the mucous lining of the large intestine. 2016-10-24T00:55:54Z - Abnormal large intestinal mucosa morphology + Abnormal large intestinal mucosa morphology @@ -486211,7 +486748,7 @@ Thickening of upper layer of skin Epidermal hyperplasia Note that we use the prefered label 'Epidermal acanthocytosis' to distinguish this term from acanthocytosis of red blood cells. - Epidermal acanthosis + Epidermal acanthosis @@ -486231,7 +486768,7 @@ 2016-10-24T01:19:32Z Peripapillary exudation - Peripapillary exudate + Peripapillary exudate @@ -486243,7 +486780,7 @@ A subretinal scar with a disc-like shape in the region of the macula. 2016-10-24T01:29:42Z - Disciform macular scar + Disciform macular scar @@ -486255,7 +486792,7 @@ A sudden violent, spasmodic, audible expiration of breath through the nose and mouth. 2016-10-24T01:36:17Z - Sneeze + Sneeze @@ -486267,7 +486804,7 @@ Unprovoked explosive pathological sneezing. 2016-10-24T01:37:09Z - Paroxysmal sneezing + Paroxysmal sneezing @@ -486288,7 +486825,7 @@ Blepharoclonus Eyelid myoclonia Some literature refers to eyelid myoclonia as a disease entity (Jeavons syndrome) that is characterized by episodes of eyelid myoclonus with absences. - Eyelid myoclonus + Eyelid myoclonus @@ -486342,7 +486879,7 @@ Hypothalamic dysgenesis Note that the term hypothalamic dysgenesis is generally used to refer to a morphological abnormality of the hypothalamus that is of presumed developmental (rather than acquired) origin. - Dysgenesis of the hypothalamus + Dysgenesis of the hypothalamus @@ -486396,7 +486933,7 @@ Thalamic dysgenesis Note that the term thalamic dysgenesis is generally used to refer to a morphological abnormality of the thalamus that is of presumed developmental (rather than acquired) origin. - Dysgenesis of the thalamus + Dysgenesis of the thalamus @@ -486451,7 +486988,7 @@ Abnormal morphology of the hippocampus Abnormality of hippocampus morphology The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum. - Abnormal hippocampus morphology + Abnormal hippocampus morphology @@ -486505,7 +487042,7 @@ Hippocampal dysgenesis Note that the term hippocampal dysgenesis is generally used to refer to a morphological abnormality of the hippocampus that is of presumed developmental (rather than acquired) origin. - Dysgenesis of the hippocampus + Dysgenesis of the hippocampus @@ -486559,7 +487096,7 @@ Basal ganglia dysgenesis Note that the term basal ganglia dysgenesis is generally used to refer to a morphological abnormality of the basal ganglia that is of presumed developmental (rather than acquired) origin. - Dysgenesis of the basal ganglia + Dysgenesis of the basal ganglia @@ -486571,7 +487108,7 @@ A type of skin nodule that has a small depression that resembles a navel (i.e., is umbilicated). 2016-10-28T07:30:43Z - Umbilicated nodule + Umbilicated nodule @@ -486590,7 +487127,7 @@ 2016-10-28T23:39:18Z There are many different classifications, and some authors treat the term capillary malformation as being synonymous with port wine stain (nevus flammeus). We refer to the detailed classification of Happle (PMID:25864701), which we do not completely follow. - Capillary malformation + Capillary malformation @@ -486606,16 +487143,16 @@ - A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anaemic spots. + A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anemic spots. 2016-10-28T23:49:41Z Naevus anaemicus - Nevus anemicus + Nevus anemicus - A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anaemic spots. + A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anemic spots. PMID:22483320 PMID:25864701 @@ -486629,7 +487166,7 @@ A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life. 2016-10-28T23:53:08Z - Nevus roseus + Nevus roseus @@ -486648,7 +487185,7 @@ A congenital vascular malformation that presents as localized or generalized erythematous-telangiectatic lesions with a reticular pattern; the lesions are almost always present at birth or develop in the first days of life. Cutis marmorata telangiectatica congenita (CMTC) appears as marble-like pattern (mottling) on the surface of the skin. In contrast to cutis marmorata, the marbling is more severe and always visible. 2016-10-29T00:22:27Z - Cutis marmorata telangiectatica congenita + Cutis marmorata telangiectatica congenita @@ -486668,7 +487205,7 @@ 2016-10-29T00:31:03Z Two different forms can be distinguished. Diffuse, non-segmental angioma serpiginosum occurs as a hereditary trait, and autosomal dominant transmission is presently assumed. - Angioma serpentinum + Angioma serpentinum @@ -486687,7 +487224,7 @@ 2016-10-29T00:37:18Z Reduced erythrocyte pyruvate kinase activity - Reduced red cell pyruvate kinase level + Reduced red cell pyruvate kinase level @@ -486705,7 +487242,7 @@ Yellow/white, sharply delineated lesion, typically of inflammatory nature, involving the macula. 2016-11-01T01:20:32Z - Placoid macular lesion + Placoid macular lesion @@ -486770,7 +487307,7 @@ 2016-11-01T01:48:14Z Note that the epidermis includes five main layers: the stratum corneum, stratum lucidium, stratum granulosum, stratum spinosum, and stratum germinativum. This term refers to thickening that primarily affects the stratum granulosum. - Hypergranulosis + Hypergranulosis @@ -486787,7 +487324,7 @@ Cytoid bodies Hyaline bodies The presence of numerous civatte bodies (CBs) in biopsies is a characteristic finding in skin lesions of patients with various dermatoses, particularly lichen planus (LP) and discoid lupus erythematosus (DLE). Achille Civatte (1877-1956) was a French dermatologist. - Civatte bodies + Civatte bodies @@ -486807,7 +487344,7 @@ Foetal distress Fetal distress in itself is a non-specific term as the various parameters characterizing the type and degree of distress are themselves ill defined. Nonethless the term is in broad clinical use and thus is included as an HPO term. It is preferable to annotate with more precise terms if possible. - Fetal distress + Fetal distress @@ -486827,7 +487364,7 @@ Flattened rete pegs Flattened rete ridges - Rete ridge flattening + Rete ridge flattening @@ -486845,7 +487382,7 @@ Lightening or darkening of the lips from their usual coloring. 2016-11-01T11:25:02Z - Lip discoloration + Lip discoloration @@ -486858,7 +487395,7 @@ 2016-11-01T11:25:57Z This feature may be seen rarely as a paraneoplastic manifestation. - Violet lip discoloration + Violet lip discoloration @@ -486876,7 +487413,7 @@ 2016-11-10T11:43:51Z Simple partial occipital seizures is being retired because the clinical manifestations used for seizure classification do not hold true to anatomical landmarks at this level of granularity. An additional dimension based on the anatomical onset of seizures would be too imprecise, and in many instances be incorrect. Whilst clinicians do still talk about a frontal/occipital/temporal/etc. lobe seizure, this is based on assumptions, typical features, or additional EEG or imaging findings. - obsolete Simple partial occipital seizures + obsolete Simple partial occipital seizures true @@ -486890,7 +487427,7 @@ 2016-11-14T01:39:51Z Sawtoothed acanthosis - Sawtooth acanthosis + Sawtooth acanthosis @@ -486908,7 +487445,7 @@ Areas of white discoloration visible on the surface of the teeth (enamel) in the form of streaks or specks. 2016-11-14T01:47:26Z - White streaks/specks on enamel. + White streaks/specks on enamel. @@ -486922,7 +487459,7 @@ Enamel with tendency to chip Spontaneous tooth fracture - Fragile teeth + Fragile teeth @@ -486934,7 +487471,7 @@ White lesions of the oral mucosa are generally caused by a condition that increases the thickness of the epithelium. This increases the distance to the vascular bed and thereby tends to change the usual reddish color of the oral mucosa to white. Common causes include hyperkeratosis (thickening of the keratin layer), acanthosis (thickening of the spinous cell layer), increased edema in the epithelium (leukoedema), and reduced vascularity of the underlying lamina propria. Additionally, fibrin caps or surface ulcerations and collapsed bullae can appear white. 2016-11-14T02:08:04Z - White lesion of the oral mucosa + White lesion of the oral mucosa @@ -486946,7 +487483,7 @@ A corrugated white lesion of the oral mucosa that usually occurs on the lateral or ventral surfaces of the tongue and may have a shaggy or frayed appearance. 2016-11-14T02:15:28Z - Oral hairy leukoplakia + Oral hairy leukoplakia @@ -486960,7 +487497,7 @@ Solar keratosis Up to ten percent of untreated actinic keratoses develop into squamous cell carcinoma of the skin. - Actinic keratosis + Actinic keratosis @@ -486972,7 +487509,7 @@ An abnormally reduced amount of adipose tissue in the abdominal cavity. 2016-11-14T02:33:27Z - Reduced intraabdominal adipose tissue + Reduced intraabdominal adipose tissue @@ -486984,7 +487521,7 @@ A structural anomaly of the mucous lining of the small intestine. 2016-11-15T11:57:47Z - Abnormal small intestinal mucosa morphology + Abnormal small intestinal mucosa morphology @@ -487066,7 +487603,7 @@ 2016-11-15T12:01:54Z Lactase deficiency - Decreased small intestinal mucosa lactase level + Decreased small intestinal mucosa lactase level @@ -487081,7 +487618,7 @@ Swelling of fingers Swollen finger Swollen fingers - Finger swelling + Finger swelling @@ -487182,11 +487719,11 @@ A deviation from normal concentration of the hormone estrogen in the blood circulation. 2016-11-27T13:46:29Z - Abnormal circulating oestrogen level + Abnormal circulating estrogen level Abnormal estrogen level Abnormal oestrogen level Clinical estrogen tests measure one of three components: estrone (E1), estradiol (E2), or estriol (E3). - Abnormal circulating estrogen level + Abnormal circulating estrogen level @@ -487265,7 +487802,7 @@ 2016-11-27T13:52:20Z Estradiol is the most biologically prevalent and active compound of a class of steroids called estrogens - Abnormal serum estradiol + Abnormal serum estradiol @@ -487339,7 +487876,7 @@ Increased estradiol level Increased serum oestradiol - Increased serum estradiol + Increased serum estradiol @@ -487351,7 +487888,7 @@ A deviation from normal concentration of estriol in the circulation. 2016-11-27T14:10:45Z - Abnormal serum estriol + Abnormal serum estriol @@ -487363,7 +487900,7 @@ An elevation above normal limits of estriol concentration in the circulation. 2016-11-27T14:13:00Z - Increased serum estriol + Increased serum estriol @@ -487375,7 +487912,7 @@ A reduction below normal limits of estriol in the circulation. 2016-11-27T14:13:33Z - Decreased serum estriol + Decreased serum estriol @@ -487387,7 +487924,7 @@ A deviation from the normal concentration of circulating estrone. 2016-11-27T14:14:35Z - Abnormal serum estrone + Abnormal serum estrone @@ -487399,7 +487936,7 @@ An elevation above normal limits of the concentration of estrone in the circulation. 2016-11-27T14:15:18Z - Increased serum estrone + Increased serum estrone @@ -487411,7 +487948,7 @@ A reduction below normal limits of the concentration of estrone in the circulation. 2016-11-27T14:15:48Z - Decreased serum estrone + Decreased serum estrone @@ -487465,7 +488002,7 @@ 2016-11-27T14:27:44Z Gingival calcifications - Gingival calcification + Gingival calcification @@ -487484,7 +488021,7 @@ 2016-11-29T11:02:54Z Note that we use the preferred term label constitutional symptom because this reflects common usage, but we do not restrict the term or its descendents to the narrow meaning of symptom, i.e., a complaint related by a patient to a physician. There is no generally accepted classification of what defines a constitutional symptom, but examples include weight loss, fatigue, general weakness, night sweats, shaking, chills, fever, and vomiting. - Constitutional symptom + Constitutional symptom @@ -487498,7 +488035,7 @@ Chills The word chills can also refer to an episode of shivering, accompanied by paleness and feeling cold. - Chills + Chills @@ -487519,7 +488056,7 @@ Shivering Shuddering Shivering is a physiologic method of heat production in man and other mammals. Shivering is a bodily function in response to fever, early hypothermia or feeling cold. - Shivering + Shivering @@ -487546,7 +488083,7 @@ Rigours A sudden attack of severe shivering accompanied by chills (a feeling of coldness) is called a rigor and may be associated with a marked rise in body temperature. Patients often describe rigors as an attack of uncontrollable shaking. Rigors are often a sign of infection, particularly bacterial infection. - Rigors + Rigors @@ -487605,7 +488142,7 @@ Deterioration of the tissue of the fovea, i.e.,the region of sharpest vision within the macula of the retina. 2016-11-29T11:24:05Z - Foveal degeneration + Foveal degeneration @@ -487621,7 +488158,7 @@ Beaten-bronze macular appearance Beaten-bronze macular sheen This feature may be seen in Stargardt disease. - Beaten bronze macular sheen + Beaten bronze macular sheen @@ -487634,7 +488171,7 @@ 2016-11-29T11:49:16Z The cause of dark choroid is thought to relate to the deposition of an abnormal material (lipofuscin) in the retinal pigment epithelial cells. - Dark choroid + Dark choroid @@ -487655,7 +488192,7 @@ Autonomic visceral myopathy Degenerative enteric myopathy - Atrophic muscularis propria + Atrophic muscularis propria @@ -487674,7 +488211,7 @@ 2016-12-03T14:28:39Z Enteric ganglia are the nerve cell clusters (groups of nerve cell bodies) that are involved in mediating the muscular activity of the intestines. - Hypoganglionosis + Hypoganglionosis @@ -487686,7 +488223,7 @@ Hyperplastic submucosal and myenteric plexus containing an increased number of ganglion cells, glial cells and nerve fibers. 2016-12-03T14:36:23Z - Ganglioneuromatosis + Ganglioneuromatosis @@ -487706,10 +488243,16 @@ Abnormal visual behavior for age Abnormal visual behaviour for age - Poor visual behaviour for age + Poor visual behavior for age A failure to meet age-related milestones in areas such as (i) focusing ability, (ii) eye coordinationg and tracking of objects in the visual field, (iii) depth perception, (iv) color perception, and (v) object and face recognition. These milestones are generally met in the first three months of life, and failure to meet them may indicate abnormal visual development or function. - Poor visual behavior for age + Poor visual behavior for age + + + + Abnormal visual behaviour for age + + @@ -487720,7 +488263,7 @@ Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration. 2016-12-03T22:19:26Z - Transient + Transient @@ -487735,7 +488278,7 @@ Collateral biliary circulation Collateral biliary veins Venous blood returning from the small intestine, stomach, pancreas and spleen converges into the portal vein. The terminal branches of the hepatic portal vein and hepatic artery empty together and mix as they enter sinusoids in the liver. Conditions such as liver cirrhosis, in which scar tissue partially blocks the normal flow of blood, may increases the pressure in the portal vein (portal hypertension).When blood flow through a vessel or a vascular bed is obstructed due to occlusion, collateral pathways open up as blood bypasses the occlusion or obstruction, and this can lead to portosystemic collateral veins in the case of cirrhosis and some other hepatobiliary diseases. - Portosystemic collateral veins + Portosystemic collateral veins @@ -487787,7 +488330,7 @@ A functional anomaly of the hepatobiliary system 2016-12-04T12:05:04Z - Abnormality of hepatobiliary system physiology + Abnormality of hepatobiliary system physiology @@ -487801,7 +488344,7 @@ Dependency on IV nutrition Total parenteral nutrition (TPN) refers to the application of an intravenous nutritional solution in individuals with gastrointestinal disorders that prevent them from absorbing a sufficient amount of nutrients from the gut to maintain health. The solution contains protein, carbohydrates (in the form of glucose), glucose, fat, vitamins, and minerals. Dependency on TPN is essentially a manifestation of the continued severity of a gastrointestinal disorder. - Dependency on intravenous nutrition + Dependency on intravenous nutrition @@ -487825,7 +488368,7 @@ An increased concentration of sedoheptulose in the urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group. 2016-12-04T12:36:02Z - Increased urinary sedoheptulose + Increased urinary sedoheptulose @@ -487837,7 +488380,7 @@ Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging. 2016-12-04T12:53:55Z - Hyperautofluorescent retinal lesion + Hyperautofluorescent retinal lesion @@ -487850,7 +488393,7 @@ 2016-12-04T12:54:44Z Hypo-autofluorescent retinal lesion - Hypoautofluorescent retinal lesion + Hypoautofluorescent retinal lesion @@ -487953,8 +488496,8 @@ A structural abnormality of the optic chiasm.The optic chiasm, located below the hypothalamus, is a partial crossing of the optic nerves. 2016-12-04T13:12:19Z - Abnormality of optic chiasm morphology - Abnormal optic chiasm morphology + Abnormality of optic chiasm morphology + Abnormal optic chiasm morphology @@ -487967,7 +488510,7 @@ 2016-12-04T13:43:21Z Increased number of elastic fibres in the dermis - Increased number of elastic fibers in the dermis + Increased number of elastic fibers in the dermis @@ -487992,7 +488535,7 @@ 2016-12-04T13:50:37Z Clumping of elastic fibres in the dermis - Clumping of elastic fibers in the dermis + Clumping of elastic fibers in the dermis @@ -488017,7 +488560,7 @@ 2016-12-04T13:54:31Z Thickened elastic fibres in the dermis - Thickened elastic fibers in the dermis + Thickened elastic fibers in the dermis @@ -488036,7 +488579,7 @@ 2016-12-04T13:56:23Z Fragmented elastic fibres in the dermis - Fragmented elastic fibers in the dermis + Fragmented elastic fibers in the dermis @@ -488055,7 +488598,7 @@ 2016-12-04T14:01:20Z Diastolic left ventricular disease can cause of limitation of exercise tolerance, whether or not ejection fraction is normal. This feature can be assessed by cardiac imaging. - Left ventricular diastolic dysfunction + Left ventricular diastolic dysfunction @@ -488074,7 +488617,7 @@ Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent. 2016-12-04T14:07:53Z - Left ventricular systolic dysfunction + Left ventricular systolic dysfunction @@ -488092,7 +488635,7 @@ Neuronal and mixed neuronal-glial tumor Neuronal and mixed neuronal-glial tumour Neuronal/glioneuronal neoplasm of the CNS - Neuronal/glioneuronal neoplasm of the central nervous system + Neuronal/glioneuronal neoplasm of the central nervous system @@ -488123,10 +488666,10 @@ 2016-12-04T14:35:51Z Rosette-forming glioneuronal neoplasm - Rosette-forming glioneuronal tumour + Rosette-forming glioneuronal tumor Rosette-forming glioneuronal tumor of the fourth ventricle Rosette-forming glioneuronal tumour of the fourth ventricle - Rosette-forming glioneuronal tumor + Rosette-forming glioneuronal tumor @@ -488150,7 +488693,7 @@ Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a smooth appearance of the interlobular septa. 2016-12-04T19:28:49Z - Smooth septal thickening on pulmonary HRCT + Smooth septal thickening on pulmonary HRCT @@ -488162,7 +488705,7 @@ Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a nodular or beaded appearance of the interlobular septa. 2016-12-04T19:30:08Z - Nodular septal thickening on pulmonary HRCT + Nodular septal thickening on pulmonary HRCT @@ -488174,7 +488717,7 @@ Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with an irregular appearance of the interlobular septa. THis feature is often associated with distortion of lung architecture. 2016-12-04T19:31:03Z - Irregular septal thickening on pulmonary HRCT + Irregular septal thickening on pulmonary HRCT @@ -488190,7 +488733,7 @@ Honeycomb cysts Honeycombing Pathologically, honeycombing is manifested as small air-containing cystic spaces that are lined by bronchiolar epithelium and have thickened walls of dense fibrous tissue. On high-resolution CT, honeycombing presents with a characteristic cystic appearance. The cystic spaces range from 3 mm to 1 cm in diameter, although they can be larger. The cystic spaces are characterized by well delineated walls 1 to 3 mm in thickness. The cysts are air-filled and appear lucent in comparison to normal lung parenchyma. Honeycombing is a manifestation of end-stage lung fibrosis. - Honeycomb lung + Honeycomb lung @@ -488208,7 +488751,7 @@ A fine reticular pattern on high-resolution computed tomography, with the visible lines separated by a few millimeters. Regions of the lung with intralobular interstitial thickening characteristically show a fine lacelike or netlike appearance. 2016-12-04T19:39:14Z - Intralobular interstitial thickening + Intralobular interstitial thickening @@ -488220,7 +488763,7 @@ Thickening of the peribronchovascular interstitium, a connective tissue sheath that surrounds the central bronchi and pulmonary arteries. The peribronchovascular interstitium extends from the level of the pulmonary hila into the peripheral lung. This feature may be ascertained on high-resolution computer tomography. 2016-12-04T19:41:52Z - Peribronchovascular interstitial thickening + Peribronchovascular interstitial thickening @@ -488234,7 +488777,7 @@ Subpleural scarring Subpleural interstitial thickening can be difficult to recognize where the lung contacts the chest wall or mediastinum but is easy to delineate adjacent to the major fissure. Thickening of the fissure visible on high-resolution computer tomography may represent subpleural interstitial thickening. - Subpleural interstitial thickening + Subpleural interstitial thickening @@ -488250,7 +488793,7 @@ Ground glass opacities Ground-glass opacification on pulmonary HRCT Ground-glass opacification is a non-specific sign and can be observed with many conditions including infection, chronic interstitial disease and acute alveolar disease. See Figure 2 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. - Ground-glass opacification + Ground-glass opacification @@ -488277,7 +488820,7 @@ Centrilobular groundglass opacification Centrilobular groundglass opacity - Centrilobular ground-glass opacification on pulmonary HRCT + Centrilobular ground-glass opacification on pulmonary HRCT @@ -488289,7 +488832,7 @@ An abscess-like lesion located within the abdomen. The lesions are localized in the spleen, liver, abdominal lymph nodes. The lesions represent visceral sterile collections of mature neutrophils that do not respond to antibiotics but regress quickly when treated with corticosteroids, but relapses occur frequently. 2016-12-04T20:11:28Z - Abdominal aseptic abscess + Abdominal aseptic abscess @@ -488308,7 +488851,7 @@ 2016-12-04T21:29:56Z Localised area of pendulous skin - Localized area of pendulous skin + Localized area of pendulous skin @@ -488323,18 +488866,18 @@ - Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing. + Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva maneuver and even by breathing. 2016-12-04T22:17:24Z Marcus Gunn jaw-winking syndrome Pterygoid-levator synkinesis Trigemino-oculomotor synkinesis - Marcus Gunn jaw winking synkinesis + Marcus Gunn jaw winking synkinesis - Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing. + Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva maneuver and even by breathing. PMID:23345532 PMID:25754805 @@ -488349,7 +488892,7 @@ 2016-12-04T22:37:03Z This term refers to the appearance of the retinal vessels on fundoscopy or other investigations. Retinal vasculitis may be associated with other manifestations such as visual impairment. - Retinal vasculitis + Retinal vasculitis @@ -488359,7 +488902,7 @@ - A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterised by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure. + A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterized by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure. 2016-12-04T22:50:21Z Bilateral tonic-clonic seizure with generalised onset @@ -488377,12 +488920,12 @@ Primary generalised tonic-clonic seizures Primary generalized tonic-clonic seizure Primary generalized tonic-clonic seizures - Bilateral tonic-clonic seizure with generalized onset + Bilateral tonic-clonic seizure with generalized onset - A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterised by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure. + A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterized by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure. PMID:20196795 PMID:28276060 PMID:28276064 @@ -488394,6 +488937,24 @@ Bilateral tonic-clonic seizure with generalised onset + + + + Primarily generalised tonic-clonic seizures + + + + + + Primary generalised tonic-clonic seizure + + + + + + Primary generalised tonic-clonic seizures + + @@ -488403,7 +488964,7 @@ HP:0011166 2016-12-04T23:02:24Z - obsolete Segmental myoclonic seizures + obsolete Segmental myoclonic seizures true @@ -488416,7 +488977,7 @@ Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the fourth cerebral ventricle (which is located beneath the tentorium of the cerebellum). 2016-12-04T23:09:22Z - Subtentorial periventricular white matter hyperdensity + Subtentorial periventricular white matter hyperdensity @@ -488429,7 +488990,7 @@ 2016-12-05T01:51:30Z Bochdalek hernia - Posterolateral diaphragmatic hernia + Posterolateral diaphragmatic hernia @@ -488443,7 +489004,7 @@ Morgagni hernia Morgagni hernias are generally accompanied by a hernia sac, and often do not cause symptoms in the newborn period. - Morgagni diaphragmatic hernia + Morgagni diaphragmatic hernia @@ -488456,7 +489017,7 @@ 2016-12-05T01:57:20Z Central hernia - Central diaphragmatic hernia + Central diaphragmatic hernia @@ -488469,7 +489030,7 @@ 2016-12-05T02:10:17Z Iron is transported to body tissues by a protein, transferrin, in plasma. This protein has two high-affinity binding sites for iron. Determination of total iron-binding capacity (TIBC) of the plasma therefore gives a measure of transferrin, although it can also be directly determined. Virtually all plasma iron (P1) normally is bound to transferrin, and measurement of P1 is assumed to reflect the amount of transferrin iron. The expression transferrin saturation, expressed as percent [(P1/TIBC) x 100], indicates the availability of iron to tissues. As transferrin saturation increases, there is an increase in the amount of diferric transferrin, which has a greater capacity to deliver iron than does monoferric transferrin. Measurements of P1, TIBC, and transferrin saturation have served several purposes in clinical medicine. The P1 concentration and (particularly) transferrin saturation relect the adequacy of iron supply. A saturation of less than 16% indicates a deficient iron supply, whereas a saturation of over 60% as measured on more than one occasion represents excessive iron loading owing to increased iron absorption or liver disease. An increased transferrmn concentration as reflected in the TIBC indicates iron depletion if the effects of estrogen and pregnancyare excluded. Other characteristic changes inboth P1 and TIBC are useful in the differential diagnosis of various diseases, for example, the decrease in transferrin saturations associated with a decreased transferrin concentration in inflammatory states. - Increased total iron binding capacity + Increased total iron binding capacity @@ -488491,7 +489052,7 @@ Digital fibrous tumour of Reye Infantile digital fibroma Infantile digital fibromatosis - Inclusion body fibromatosis + Inclusion body fibromatosis @@ -488517,7 +489078,7 @@ 2016-12-05T11:49:57Z The condition inflammatory cap polyposis is characterized by the presence of multiple inflammatory cap polyps in the large intestine. - Inflammatory cap polyp + Inflammatory cap polyp @@ -488530,7 +489091,7 @@ 2016-12-06T03:05:47Z Muscle fibre actin filament accumulation - Muscle fiber actin filament accumulation + Muscle fiber actin filament accumulation @@ -488549,7 +489110,7 @@ 2016-12-10T12:53:01Z Abnormal apolipoprotein level - Abnormal circulating apolipoprotein concentration + Abnormal circulating apolipoprotein concentration @@ -488562,7 +489123,7 @@ 2016-12-10T12:56:05Z Elevated apolipoprotein A-IV level - Elevated circulating apolipoprotein A-IV concentration + Elevated circulating apolipoprotein A-IV concentration @@ -488576,7 +489137,7 @@ Palm tree sign Caput medusae is a sign of severe portal hypertension with portal-systemic shunting through the umbilical veins. The name refers to Medusa's hair once Minerva had turned it into snakes. Caput Medusae can be distinguished from inferior vena cava obstruction by determining the direction of flow in the veins below the umbilicus; it is towards the legs in caput medusae, and towards the head with inferior vena cava obstruction. See figure 2 in PMID: 29089832. - Caput medusae + Caput medusae @@ -488594,7 +489155,7 @@ A trigger is defined as an external factor that leads to the manifestation of a sign or symptom in a person with a susceptibility to developing that manifestation. 2016-12-10T13:33:36Z - Triggered by + Triggered by @@ -488608,7 +489169,7 @@ Breastfeeding triggered symptoms Triggered by breastfeeding - Triggered by breast feeding + Triggered by breast feeding @@ -488628,7 +489189,7 @@ Cold triggered symptoms Triggered by cold temperature - Triggered by cold + Triggered by cold @@ -488648,7 +489209,7 @@ Dehydration triggered symptoms Triggered by dehydration - Triggered by dehydration + Triggered by dehydration @@ -488668,7 +489229,7 @@ Carbohydrate ingestion triggered symptoms Triggered by carbohydrate ingestion - Triggered by carbohydrate ingestion + Triggered by carbohydrate ingestion @@ -488687,7 +489248,7 @@ 2016-12-10T13:48:19Z Trigged by fruit sugar - Triggered by fructose ingestion + Triggered by fructose ingestion @@ -488705,7 +489266,7 @@ Applies to a sign or symptom that is provoked or brought about by eating or drinking glucose. 2016-12-10T13:48:59Z - Triggered by glucose ingestion + Triggered by glucose ingestion @@ -488719,7 +489280,7 @@ Triggered by alcohol ingestion Ethanol ingestion triggered symptoms - Triggered by ethanol ingestion + Triggered by ethanol ingestion @@ -488740,7 +489301,7 @@ Fasting triggered attacks Fasting triggered symptoms Triggered by fasting - Triggered by fasting + Triggered by fasting @@ -488759,7 +489320,7 @@ 2016-12-10T13:51:49Z Triggered by ingestion of lactose-containing milk - Triggered by galactose ingestion + Triggered by galactose ingestion @@ -488779,7 +489340,7 @@ Heat triggered symptoms Triggered by heat - Triggered by heat + Triggered by heat @@ -488799,7 +489360,7 @@ Febrile illness triggered symptoms Triggered by fever - Triggered by febrile illness + Triggered by febrile illness @@ -488819,7 +489380,7 @@ Heavy meal triggered symptoms Triggered by overeating - Triggered by heavy meal + Triggered by heavy meal @@ -488839,7 +489400,7 @@ High-fat diet triggered symptoms Triggered by high-fat diet - Triggered by high-fat diet + Triggered by high-fat diet @@ -488859,7 +489420,7 @@ Hyperventilation triggered symptoms Triggered by hyperventilation - Triggered by hyperventilation + Triggered by hyperventilation @@ -488881,7 +489442,7 @@ Triggered by immunization Triggered by vaccination Vaccination triggered symptoms - Triggered by vaccination + Triggered by vaccination @@ -488914,7 +489475,7 @@ Menstruation triggered symptoms Triggered by monthly period Triggered by period - Triggered by menstruation + Triggered by menstruation @@ -488940,7 +489501,7 @@ Pregnancy triggered symptoms Triggered by pregnancy - Triggered by pregnancy + Triggered by pregnancy @@ -488960,7 +489521,7 @@ Sleep deprivation triggered symptoms Triggered by sleep deprivation - Triggered by sleep deprivation + Triggered by sleep deprivation @@ -488982,7 +489543,7 @@ Triggered by cigarette consumption Triggered by smoking Triggered by tobacco use - Triggered by smoking + Triggered by smoking @@ -489018,7 +489579,7 @@ Triggered by Na+ ingestion Triggered by sodium intake Triggered by salt ingestion - Triggered by sodium ingestion + Triggered by sodium ingestion @@ -489051,7 +489612,7 @@ Sound triggered symptoms Triggered by sound For instance, seizures associated with autosomal dominant partial epilepsy with auditory features may be triggered by certain sounds such as telephone ringing or speech. - Triggered by sound + Triggered by sound @@ -489071,7 +489632,7 @@ Stress triggered symptoms Triggered by stress - Triggered by stress + Triggered by stress @@ -489092,7 +489653,7 @@ Excitement triggered symptoms Triggered by excitement Triggered by startle - Triggered by excitement + Triggered by excitement @@ -489113,7 +489674,7 @@ Kinesigenic Sudden movement triggered symptoms Triggered by sudden movement - Triggered by sudden movement + Triggered by sudden movement @@ -489133,7 +489694,7 @@ Vestibular stimulation triggered attacks Vestibular stimulation triggered symptoms - Triggered by vestibular stimulation + Triggered by vestibular stimulation @@ -489146,7 +489707,7 @@ 2016-12-14T11:20:22Z Teninitis - Tendonitis + Tendonitis @@ -489160,7 +489721,7 @@ Abnormality of synovial bursa morphology A synovial bursa is a small fluid-filled saclike cavity that facilitates the gliding of muscles or tendons over bony or ligamentous surfaces. There are numerous synovial bursae in the body, for instance at the shoulder, elbow, knee, and hip. - Abnormal synovial bursa morphology + Abnormal synovial bursa morphology @@ -489172,7 +489733,7 @@ Inflammation of a synovial bursa. 2016-12-14T11:33:51Z - Bursitis + Bursitis @@ -489327,7 +489888,7 @@ 2016-12-16T11:55:08Z Foot pain - Foot pain + Foot pain @@ -489348,7 +489909,7 @@ Subhyaloid haemorrhage Subhyaloid heme Clinically speaking, distinguishing between preretinal and subhyaloid hemorrhages is difficult. Therefore, clinicians use the terms inter-changeably. A D-shaped or boat-shaped appearance may be observed, because the blood accumulates within loosely adherent tissue of the superficial retina and can spread and settle inferiorly with gravity. A sharp demarcation line is usually evident. - Subhyaloid hemorrhage + Subhyaloid hemorrhage @@ -489375,7 +489936,7 @@ Preretinal haemorrhage Preretinal heme Clinically speaking, distinguishing between preretinal and subhyaloid hemorrhages is difficult. Therefore, clinicians often use the terms interchangeably. A D-shaped or boat-shaped appearance may be observed, because the blood accumulates within loosely adherent tissue of the superficial retina and can spread and settle inferiorly with gravity. A sharp demarcation line is usually evident. - Preretinal hemorrhage + Preretinal hemorrhage @@ -489403,7 +489964,7 @@ Flame-shaped retinal haemorrhage Linear retina heme Flame-shaped hemorrhages are typically located in the posterior pole and tend to resolve within around six weeks. THeir pathophysiology is thought to reflect ischemic leakage from arterioles or veins that are ischemic or, in the case of veins, under high pressure. - Flame-shaped retinal hemorrhage + Flame-shaped retinal hemorrhage @@ -489424,7 +489985,7 @@ Dot-and-blot retinal haemorrhage Round retinal heme Dot-ant-blot Intraretinal hemorrhages take longer to resolve than superficial hemorrhages because they're deeper than flame-shaped hemorrhages. - Dot-and-blot retinal hemorrhage + Dot-and-blot retinal hemorrhage @@ -489445,7 +490006,7 @@ Subretinal haemorrhage Subretinal heme Subretinal hemorrhages are located deep in the retina, displaying a dark coloration with the retinal vessels clearly visible above. Subretinal hemorrhages tend not to be well delineated because of the lack of firm attachments between the neurosensory retina and the retinal pigment epithelium, allowing the blood to spread. - Subretinal hemorrhage + Subretinal hemorrhage @@ -489464,7 +490025,7 @@ 2016-12-17T01:39:54Z Subretinal pigment epithelium haemorrhage - Subretinal pigment epithelium hemorrhage + Subretinal pigment epithelium hemorrhage @@ -489483,7 +490044,7 @@ 2016-12-17T13:11:37Z In contrast to cysts, vesicles, pustules and bullae do not have a complete epithelial lining and are therefore less well demarcated. - Cutaneous cyst + Cutaneous cyst @@ -489497,7 +490058,7 @@ Pilar cyst Epidermal cysts and trichilemmal cysts are clinically indistinguishable. The wall of the epidermal cyst conserves the epidermal layers, but the wall of the trichilemmal cysts, which arise from the external root sheath, shows palisading of unlayered epithelial cells. Homogeneous horny material that is further degraded to fat and cholesterol forms within both types of cysts. - Trichilemmal cyst + Trichilemmal cyst @@ -489509,7 +490070,7 @@ A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts are slowly progressive and can grow to a size of 1 to 4 cm. 2016-12-17T13:49:23Z - Dermoid cyst + Dermoid cyst @@ -489522,7 +490083,7 @@ 2016-12-17T13:52:25Z Eruptive vellus hair cysts result from occlusion and cystic dilation of vellus hair follicles. - Eruptive vellus hair cyst + Eruptive vellus hair cyst @@ -489534,7 +490095,7 @@ A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle). 2016-12-17T13:56:03Z - Comedo + Comedo @@ -489547,7 +490108,7 @@ 2016-12-17T13:57:50Z Whitehead - Closed comedo + Closed comedo @@ -489567,7 +490128,7 @@ 2016-12-17T14:04:52Z Blackhead - Open comedo + Open comedo @@ -489591,7 +490152,7 @@ Glossitis areata exfoliativa Lingual erythema migrans Wandering rash of the tongue - Geographic tongue + Geographic tongue @@ -489629,7 +490190,7 @@ 2016-12-17T14:17:46Z Improved by - Ameliorated by + Ameliorated by @@ -489642,7 +490203,7 @@ 2016-12-17T14:19:29Z Pregnancy relieves symptoms - Ameliorated by pregnancy + Ameliorated by pregnancy @@ -489657,7 +490218,7 @@ Heat improves condition Heat improves symptom Fever improves condition - Ameliorated by heat + Ameliorated by heat @@ -489669,7 +490230,7 @@ Applies to a sign or symptom that is improved or made more bearable by eating or drinking carbohydrates including glucose (sugar). 2016-12-17T14:21:33Z - Ameliorated by carbohydrate ingestion + Ameliorated by carbohydrate ingestion @@ -489684,7 +490245,7 @@ Neck stiffness Stiff neck - Stiff neck + Stiff neck @@ -489710,7 +490271,7 @@ Elbow stiffness Stiff elbow - Stiff elbow + Stiff elbow @@ -489736,7 +490297,7 @@ Stiff wrist Wrist stiffness - Stiff wrist + Stiff wrist @@ -489762,7 +490323,7 @@ Finger stiffness Stiff finger - Stiff finger + Stiff finger @@ -489788,7 +490349,7 @@ Hip stiffness Stiff hip - Stiff hip + Stiff hip @@ -489814,7 +490375,7 @@ Knee stiffness Stiff knee - Stiff knee + Stiff knee @@ -489840,7 +490401,7 @@ Ankle stiffness Stiff ankle - Stiff ankle + Stiff ankle @@ -489866,7 +490427,7 @@ Stiff toe Toe stiffness - Stiff toe + Stiff toe @@ -489889,7 +490450,7 @@ HP:0008480 2016-12-18T01:33:11Z - obsolete Cervical osteoarthritis + obsolete Cervical osteoarthritis true @@ -489931,7 +490492,7 @@ Stammering Stuttering - Stuttering + Stuttering @@ -490027,7 +490588,7 @@ Abnormality of oesophagus physiology Functional abnormality of the esophagus Functional abnormality of the oesophagus - Abnormal esophagus physiology + Abnormal esophagus physiology @@ -490051,7 +490612,7 @@ Involuntary contractions of the esophagus that are irregular, uncoordinated, and painful. 2016-12-18T13:45:05Z - Esophageal spasms + Esophageal spasms @@ -490066,7 +490627,7 @@ Chloasma Facial melanosis Melasma can be seen in individuals who have had substantial exposure to the sun, in pregnant women, with hormone treatments or as a side effect of certain medications, or with hypothyroidism, among other causes. - Melasma + Melasma @@ -490078,7 +490639,7 @@ Inflammation of the Achilles tendon. 2016-12-18T13:52:07Z - Achilles tendonitis + Achilles tendonitis @@ -490092,7 +490653,7 @@ 2016-12-18T13:56:16Z Mature cystic ovarian teratoma - Ovarian dermoid cyst + Ovarian dermoid cyst @@ -490104,7 +490665,7 @@ Applies to an abnormality that is located farther from the median plane or midline of the body or of the referenced structure. 2016-12-18T14:47:04Z - Lateral + Lateral @@ -490116,7 +490677,7 @@ Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. 2016-12-18T14:51:16Z - Abnormality of skin adnexa physiology + Abnormality of skin adnexa physiology @@ -490128,7 +490689,7 @@ Hyperhidrosis that occurs with gustatory stimulation (e.g., moisture on face from sweating that occurs after eating). 2016-12-18T15:12:09Z - Gustatory sweating + Gustatory sweating @@ -490146,7 +490707,7 @@ Sweating provoked by cold temperature rather than by heat. 2016-12-18T15:16:15Z - Cold-induced sweating + Cold-induced sweating @@ -490157,7 +490718,7 @@ 2016-12-18T15:18:09Z - Migratory + Migratory @@ -490169,7 +490730,7 @@ A pain characteristic is defined as a subjective category or type of pain. 2016-12-18T15:21:51Z - Pain characteristic + Pain characteristic @@ -490182,7 +490743,7 @@ 2016-12-18T15:23:03Z Stabbing pain - Sharp + Sharp @@ -490195,7 +490756,7 @@ 2016-12-18T15:23:43Z Dull pain - Dull + Dull @@ -490207,7 +490768,7 @@ Applied to pain that is tender, i.e., elicited by touching the affected body part. 2016-12-18T15:25:03Z - Tender + Tender @@ -490219,7 +490780,7 @@ Applied to pain that wakes the affecting individual from sleep. 2016-12-18T15:26:21Z - Sleep-interrupting + Sleep-interrupting @@ -490232,7 +490793,7 @@ 2016-12-18T15:29:42Z Exacerbated by - Aggravated by + Aggravated by @@ -490248,7 +490809,7 @@ Aggravated by exertion Worse with activity Worsened by activity - Aggravated by activity + Aggravated by activity @@ -490260,7 +490821,7 @@ Applies to an abnormality that is situated in the central part of the body, in the head and trunk as distinguished from the limbs. 2016-12-18T15:34:25Z - Axial + Axial @@ -490273,7 +490834,7 @@ 2016-12-18T15:40:35Z Swollen lymph nodes in the neck - Cervical lymphadenopathy + Cervical lymphadenopathy @@ -490291,7 +490852,7 @@ Applies to an abnormality that affects the arms, trunk, head more than the legs. 2016-12-18T16:11:12Z - Upper-body predominance + Upper-body predominance @@ -490303,7 +490864,7 @@ Applies to an abnormality that affects the legs more than the arms, trunk, head. 2016-12-18T16:12:27Z - Lower-body predominance + Lower-body predominance @@ -490315,7 +490876,7 @@ Applies to an abnormality that affects the distal portions of limbs (hand, foot) and head (ears, nose). 2016-12-18T16:15:24Z - Acral + Acral @@ -490327,7 +490888,7 @@ Applies to an abnormality whose localization corresponds to the lines of Blaschko, which correspond to the lineage of epithelia cells. Blaschko lines are normally invisible but may become apparent with certain skin diseases and then can be seen to be distributed in lines horizontal to the body. 2016-12-18T16:16:24Z - Distributed along Blaschko lines + Distributed along Blaschko lines @@ -490347,7 +490908,7 @@ Radicular This distribution can be seen with certain skin findings such as shingles. The term radicular is used to describe a dermatomal distribution of nerve root pain. - Dermatomal + Dermatomal @@ -490365,7 +490926,7 @@ Applies to an abnormality whose distribution and appearance resembles that of the grouped umbilicated vesicles seen in herpes simplex and herpes zoster infections. 2016-12-18T16:19:13Z - Herpetiform + Herpetiform @@ -490377,7 +490938,7 @@ Applies to an abnormality whose distribution and appearance resembles that of measles, i.e., maculopapular lesions that are red and roughly 2 to 10 mm in diameter and may be partially confluent. 2016-12-18T16:20:14Z - Morbilliform + Morbilliform @@ -490389,7 +490950,7 @@ Applied to an abnormality whose duration is extended over a longer period of time than is expected or usual (e.g., prolonged fever lasts longer than one usually sees with an infection). 2016-12-18T16:26:30Z - Prolonged + Prolonged @@ -490404,7 +490965,7 @@ Butterfly rash Cheekbone rash This type of rash is seen in lupus erythematosus, but also in other diseases such as rosacea and seborrheic dermatitis. - Malar rash + Malar rash @@ -490416,7 +490977,7 @@ Applies to an abnormality that occurs in or is exacerbated during the night. 2016-12-20T12:30:06Z - Nocturnal + Nocturnal @@ -490428,7 +490989,7 @@ Applies to a sign, symptom, or other abnormality that occurs in or is exacerbated in the day time. 2016-12-20T12:31:12Z - Diurnal + Diurnal @@ -490442,7 +491003,7 @@ Now and then In our definition, episodic is synonymous with intermittent and recurrent. The term does not imply any particular temporal pattern of the recurrence. - Episodic + Episodic @@ -490462,7 +491023,7 @@ Cyclic Cyclical - Periodic + Periodic @@ -490474,7 +491035,7 @@ Applies to a sign, symptom, or other manifestation that is episodic with a fixed time interval of one day (24 hours). 2016-12-21T00:57:17Z - Quotidian + Quotidian @@ -490486,7 +491047,7 @@ Acute appearance of disease manifestations in a period of minutes. 2016-12-21T01:00:35Z - Acute emergence over minutes + Acute emergence over minutes @@ -490498,7 +491059,7 @@ Acute appearance of disease manifestations in a period of hours. 2016-12-21T01:01:25Z - Acute emergence over hours + Acute emergence over hours @@ -490510,7 +491071,7 @@ Acute appearance of disease manifestations in a period of days. 2016-12-21T01:01:46Z - Acute emergence over days + Acute emergence over days @@ -490523,7 +491084,7 @@ 2016-12-21T01:08:53Z Irregular pupil - Abnormal pupil shape + Abnormal pupil shape @@ -490542,7 +491103,7 @@ An abnormal pupil shape that is elliptical, i.e., egg-like. 2016-12-21T01:11:31Z - Oval pupil + Oval pupil @@ -490554,7 +491115,7 @@ A closed sac, having a distinct membrane and division compared to the nearby tissue located within the anterior chamber. The sac that may contain air, fluids, or semi-solid material. 2016-12-21T01:32:14Z - Anterior chamber cyst + Anterior chamber cyst @@ -490567,7 +491128,7 @@ A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters. 2016-12-21T01:43:27Z - Esophoria + Esophoria @@ -490580,7 +491141,7 @@ A form of strabismus with one or both eyes deviated outward to a milder degree than with exotropia. 2016-12-21T01:46:52Z - Exophoria + Exophoria @@ -490592,7 +491153,7 @@ A benign, flat or slightly elevated melanocytic lesions of the posterior uveawith clearly defined margins. Choroidal nevi tend they remain stable in size, and to display features such as overlying drusen as well as retinal pigment epithelial atrophy, hyperplasia or fibrous metaplasia. 2016-12-21T01:54:28Z - Choroidal nevus + Choroidal nevus @@ -490605,7 +491166,7 @@ 2016-12-21T02:22:58Z Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease is an autosomal recessive disorder characterized by ataxia, spasticity, and variable optic atrophy. Chronic progressive decline can be exacerbated by rapid deterioration during febrile illnesses or following head trauma. - Exacerbated by head trauma + Exacerbated by head trauma @@ -490618,7 +491179,7 @@ 2017-01-13T13:20:56Z Normally, if the arm is held in full extension, the forearm is aligned in valgus with respect to the arm. A decrease in valgus with neutral alignment (loss of angulation) is called cubitus rectus, and a further decreases is called varus. Cubitus varus may be congenital (often progressive), or may be a complication of humerus fracture, trochlear osteonecrosis, and malunited intercondylar fracture. Radiographically, the metaphyseo-diaphyseal angle is normally 90 degrees. With cubitus varus, the angle is larger, with cubitus valgus, the angle is smaller. - Cubitus varus + Cubitus varus @@ -490632,7 +491193,7 @@ NCIT:C4908 Ovarian epithelial cancer - Ovarian carcinoma + Ovarian carcinoma @@ -490643,7 +491204,7 @@ HP:0011497 2017-01-25T14:46:08Z - obsolete Rubeosis iridis + obsolete Rubeosis iridis true @@ -490658,7 +491219,7 @@ Fluorescein leakage Leakage can be caused by incompetent blood vessels such as with choroidal or diabetic neovascularization. Alternatively, leakage can be associated with a diseased retinal pigment epithelium resulting in leakage of fluorescein from the choroid. - Leakage of dye on fundus fluorescein angiography + Leakage of dye on fundus fluorescein angiography @@ -490731,7 +491292,7 @@ 2017-02-03T11:46:21Z Liver copper accumulation - Copper accumulation in liver + Copper accumulation in liver @@ -490743,7 +491304,7 @@ Blockage of venous return (flow of blood from the periphery back towards the right atrium) in a vein. 2017-02-03T12:05:01Z - Venous occlusion + Venous occlusion @@ -490795,7 +491356,7 @@ An anomaly of arterial function. 2017-02-03T12:08:38Z - Abnormal arterial physiology + Abnormal arterial physiology @@ -490807,7 +491368,7 @@ Blockage of blood flow through an artery. 2017-02-03T12:09:18Z - Arterial occlusion + Arterial occlusion @@ -490820,7 +491381,7 @@ 2017-02-04T16:43:31Z Medial thinning of eyebrow - Sparse medial eyebrow + Sparse medial eyebrow @@ -490834,7 +491395,7 @@ Retinal artery occlusion Retinal artery occlusion can manifest as painless loss of monocular vision. - Retinal arterial occlusion + Retinal arterial occlusion @@ -490847,7 +491408,7 @@ 2017-02-11T10:48:34Z The thickness of the renal parenchyma decreases with age. The thickness of the renal parenchyma is correlated with renal function. - Decreased renal parenchymal thickness + Decreased renal parenchymal thickness @@ -490869,7 +491430,7 @@ Antepartum haemorrhage Prepartum haemorrhage Prepartum hemorrhage - Antepartum hemorrhage + Antepartum hemorrhage @@ -490895,7 +491456,7 @@ Anti-GAD antibody positivity The enzyme called glutamate decarboxylase or glutamic acid decarboxylase (GAD) catalyyzes the conversion of glutamate to gamma aminobutyric acid (g-Amino butyric acid, GABA). Autoantibodies against GAD this antibody may block the conversion of glutamate to GABA. and lead to a reduction in the amount of GABA in the nervous system. - Anti-glutamic acid decarboxylase antibody positivity + Anti-glutamic acid decarboxylase antibody positivity @@ -490921,7 +491482,7 @@ Downgaze paresis Supranuclear downgaze palsy - Downgaze palsy + Downgaze palsy @@ -490941,7 +491502,7 @@ Supranuclear upgaze palsy Upgaze paresis - Upgaze palsy + Upgaze palsy @@ -490954,7 +491515,7 @@ 2017-02-11T12:09:16Z Abnormality of the cortex of foot bones - Abnormality of foot cortical bone + Abnormality of foot cortical bone @@ -490966,7 +491527,7 @@ A reduction in the thickness of the outer shell (cortex) of foot bones. 2017-02-11T12:10:34Z - Cortical thinning of foot bones + Cortical thinning of foot bones @@ -490985,7 +491546,7 @@ 2017-02-12T11:38:35Z Emotion triggered symptoms - Triggered by emotion + Triggered by emotion @@ -490998,7 +491559,7 @@ 2017-02-12T11:48:00Z Child can stand in an upright position on both feet, holding onto a stable object (eg, furniture) for at least 10 s without leaning on it. - Delayed ability to stand + Delayed ability to stand @@ -491018,7 +491579,7 @@ 2017-02-12T12:04:58Z This milestone can be defined as the ability of an infant to sit up straight with head erect for at least 10 s without using arms or hands to balance body or support the position. - Delayed ability to sit + Delayed ability to sit @@ -491039,7 +491600,7 @@ Red eye Red eyes - Red eye + Red eye @@ -491066,7 +491627,7 @@ Ciliary limbus Circumlimbal hyperaemia - Circumlimbal hyperemia + Circumlimbal hyperemia @@ -491087,7 +491648,7 @@ Superficial episcleral hypaeremia The episclera is a fibroelastic structure with two loosely joined layers. The superficial layer contains vessels of the superficial episcleral capillary plexus that appear straight and are arranged in a radial fashion. The deeper layer contains a highly anastomotic network of blood vessels. The episclera and sclera have a separate blood supply from that of the conjunctiva. Conjunctival hyperemia can be distinguished from episceral hyperemia because conjunctival hyperemia is characterized by finer, less tortuous vessels but deeper episcleral hyperemia maybe violaceous. The conjunctival vessels but not the deeper vessels can be moved by massaging with a cotton swab. - Superficial episcleral hyperemia + Superficial episcleral hyperemia @@ -491108,7 +491669,7 @@ Deep episcleral hyperaemia The episclera is a fibroelastic structure with two loosely joined layers. The superficial layer contains vessels of the superficial episcleral capillary plexus that appear straight and are arranged in a radial fashion. The deeper layer contains a highly anastomotic network of blood vessels. The episclera and sclera have a separate blood supply from that of the conjunctiva. Conjunctival hyperemia can be distinguished from episceral hyperemia because conjunctival hyperemia is characterized by finer, less tortuous vessels but deeper episcleral hyperemia maybe violaceous. The conjunctival vessels but not the deeper vessels can be moved by massaging with a cotton swab. - Deep episcleral hyperemia + Deep episcleral hyperemia @@ -491127,7 +491688,7 @@ 2017-02-12T13:03:48Z Keratic precipitates may collect in a triangular pattern called Arit triangle with the base down on the lower part of theendothelial surface or may be distributed diffusely accross the endothelium. If they are greasy in appearance, the term mutton fat keratic precipitate is used. - Corneal keratic precipitates + Corneal keratic precipitates @@ -491141,7 +491702,7 @@ 2017-02-12T13:17:04Z Central retinal artery occlusion canmanifest as sudden, acute, and painless loss of vision in one eye. - Central retinal artery occlusion + Central retinal artery occlusion @@ -491160,7 +491721,7 @@ 2017-02-12T13:19:32Z Most individuals with lupus anticoagulant do not have lupus erythematosus or other systemic autoimmune disorders. One of the tests for lupus anticoagulant is the dilute Russell's viper venom time (dRVVT). - Lupus anticoagulant + Lupus anticoagulant @@ -491179,7 +491740,7 @@ 2017-02-12T13:44:46Z In primary biliary cirrhosis, interlobular bile duct destruction is immune mediated. - Interlobular bile duct destruction + Interlobular bile duct destruction @@ -491201,7 +491762,7 @@ Abnormality of circulating beta2 microglobulin level Abnormality of circulating beta2-m level Abnormality of circulating beta2m level - Abnormality of circulating beta-2-microglobulin level + Abnormality of circulating beta-2-microglobulin level @@ -491238,7 +491799,7 @@ 2017-02-12T13:53:51Z Elevated circulating beta-2-microglobulin level - Increased circulating beta-2-microglobulin level + Increased circulating beta-2-microglobulin level @@ -491251,7 +491812,7 @@ 2017-02-12T13:54:52Z Reduced circulating beta-2-microglobulin level - Decreased circulating beta-2-microglobulin level + Decreased circulating beta-2-microglobulin level @@ -491304,7 +491865,7 @@ 2017-02-12T23:58:19Z Abnormality of the corneal limbus - Abnormal corneal limbus morphology + Abnormal corneal limbus morphology @@ -491357,7 +491918,7 @@ 2017-02-12T23:59:31Z Limbal oedema - Limbal edema + Limbal edema @@ -491375,7 +491936,7 @@ Conjunctival papillae with a diameter greater than 1 millimeter. They characteristically have flattened tops which sometimes demonstrate staining with fluorescein. 2017-02-13T00:05:03Z - Giant conjunctival papillae + Giant conjunctival papillae @@ -491394,7 +491955,7 @@ 2017-02-13T00:11:13Z Recurrent interdigital tinea - Recurrent interdigital mycosis + Recurrent interdigital mycosis @@ -491407,7 +491968,7 @@ 2017-02-13T00:19:00Z Autosomal dominant germline de novo mutation - Typically de novo + Typically de novo @@ -491427,7 +491988,7 @@ Anti-MND antibodies Sp100 is the main antigenic target of MND reactivity. Anti-MND activity can be seen in primary biliary cirrhosis and in other conditions. Anti-sp100 antibodies are directed against sp100 antigen found within nuclear bodies; large protein complexes in the nucleus that may have a role in cell growth and differentiation. Anti-sp100 antibodies are found in approximately 20-30% of patients diagnosed with primary biliary cirrhosis (PBC). - Anti-multiple nuclear dots antibody positivity + Anti-multiple nuclear dots antibody positivity @@ -491492,7 +492053,7 @@ An anomaly of cellular morphology or physiology. 2017-02-13T00:29:35Z - Abnormal cellular phenotype + Abnormal cellular phenotype @@ -491505,7 +492066,7 @@ 2017-02-13T00:33:08Z Retinal arterial macroaneurysms can be visualized on fundoscopy and by fluorescein angiography or spectral-domain optical coherence tomography. - Retinal arterial macroaneurysms + Retinal arterial macroaneurysms @@ -491516,7 +492077,7 @@ HP:0001263 2017-02-17T11:43:42Z - obsolete Psychomotor retardation + obsolete Psychomotor retardation true @@ -491531,7 +492092,7 @@ Fragmentary myoclonus Erratic may appear immediately after birth.Definition adapted from The Epilepsies: Seizures, Syndromes and Management; Chapter 5: Neonatal Seizures and Neonatal Syndromes; NCBI Book NBK2599. - Erratic myoclonus + Erratic myoclonus @@ -491544,7 +492105,7 @@ 2017-02-17T12:10:49Z Ectropion uveae - Uveal ectropion + Uveal ectropion @@ -491558,7 +492119,7 @@ Polygonal calices Polygonal-shaped calices - Polygonal renal calices + Polygonal renal calices @@ -491570,7 +492131,7 @@ Increased number of calices of the kidney. 2017-02-17T12:17:58Z - Polycalycosis + Polycalycosis @@ -491588,8 +492149,8 @@ A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. 2017-02-20T13:15:23Z - Abnormality of medullary pyramid morphology - Abnormal medullary pyramid morphology + Abnormality of medullary pyramid morphology + Abnormal medullary pyramid morphology @@ -491602,7 +492163,7 @@ 2017-02-20T13:16:42Z Hypoplasia of the medullary pyramids - Renal medullary pyramid hypoplasia + Renal medullary pyramid hypoplasia @@ -491622,7 +492183,7 @@ Endocapillary hypercellularity The endocapillary compartment of the glomerulus includes the endothelial cells, mesangial cells, and any leukocytes in the capillary lumens or mesangium. - Glomerular endocapillary hypercellularity + Glomerular endocapillary hypercellularity @@ -491643,7 +492204,7 @@ Extracapillary glomerular hypercellularity Extracapillary hypercellularity - Glomerular extracapillary hypercellularity + Glomerular extracapillary hypercellularity @@ -491655,7 +492216,7 @@ A benign hair follicle tumor whose tumor cells form rudimentary hair follicles but not actual hair shafts. A trichoepithelioma is usually less than one centimeter, firm, round, and shihy with yellow, pink, brown, or bluish color. They may occur multiply, usually on the face, and may gradually increase in number with age. 2017-02-20T14:24:28Z - Trichoepithelioma + Trichoepithelioma @@ -491668,7 +492229,7 @@ 2017-02-20T14:32:08Z Abnormality of growth plate morphology - Abnormal growth plate morphology + Abnormal growth plate morphology @@ -491680,7 +492241,7 @@ Increased thickness (dimension along the axis of the bone) of the growth plate. 2017-02-20T14:40:12Z - Thick growth plates + Thick growth plates @@ -491692,7 +492253,7 @@ Abnormal bone tissue formation (ossification) affecting the sacrum. 2017-02-20T14:45:33Z - Abnormal ossification of the sacrum + Abnormal ossification of the sacrum @@ -491704,7 +492265,7 @@ Formation of the sacrum bone tissue occurs later than age-adjusted norms. 2017-02-20T14:47:07Z - Delayed ossification of the sacrum + Delayed ossification of the sacrum @@ -491745,7 +492306,7 @@ Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge. 2017-03-15T13:25:46Z - Interictal EEG abnormality + Interictal EEG abnormality @@ -491765,7 +492326,7 @@ 2017-04-08T13:00:41Z The odontoid process forms from different ossification centers. Two centers normally appear on each side of the midline around the fifth or sixth month of fetal life. These two centers usually fuse by one year of age. When there is a delay in fusion, a longitudinal midline cleft may be seen. Duplication of the odontoid process most likely is the result of a lack of fusion of these two centers of ossification [from PMID:9367321]. - Duplicated odontoid process + Duplicated odontoid process @@ -491777,7 +492338,7 @@ Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process.With dystopic os odontoideum, the ossicle is located near the basion or is fused with the clivus. 2017-04-08T13:10:36Z - Orthotopic os odontoideum + Orthotopic os odontoideum @@ -491851,7 +492412,7 @@ Glutamine high in urine Glutaminuria - Hyperglutaminuria + Hyperglutaminuria @@ -491872,7 +492433,7 @@ Exertion triggered symptoms Triggered by physical exercise For convenience, several HPO terms exist with the phrase 'Exercise-induced' in their label. This is meant to be logically equvalent to the combination of the basis term and this modifier. - Triggered by exertion + Triggered by exertion @@ -491889,7 +492450,7 @@ Antimicrosomal antibody positivity TPOAbs Thyroid peroxidase (TPO) antibody positivity is found in most patients with chronic lymphocytic thyroiditis (Hashimoto disease) and over half of patients with Graves disease. - Anti-thyroid peroxidase antibody positivity + Anti-thyroid peroxidase antibody positivity @@ -491924,7 +492485,7 @@ Increased serum androstenedione 4-Androstenedione is the common precursor of the androgen and estrogen sex hormones and is produced in the adrenal glands and the gonads. - Increased circulating androstenedione concentration + Increased circulating androstenedione concentration @@ -491937,7 +492498,7 @@ 2017-04-20T10:52:38Z The presence of autoantibodies (immunoglobulins) in the serum that react against pituitary tissue. - Anti-pituitary antibody positivity + Anti-pituitary antibody positivity @@ -491955,7 +492516,7 @@ Reduced fluid intake (drinking) in a clinical situation where the plasma molarity or sodium concentration normally would induce greater fluid intake. 2017-04-20T11:10:08Z - Hypodipsia + Hypodipsia @@ -491974,7 +492535,7 @@ 2017-04-21T11:39:02Z Buffalo hump - Dorsocervical fat pad + Dorsocervical fat pad @@ -491999,7 +492560,7 @@ 2017-04-21T11:45:42Z In certain diseases such as multiple symmetric lipomatosis, lipedema and Dercum's disease, accumulation of subcutaneous adipose tissue may result from growth of an abnormal brown stem cell population or from vascular or lymphatic dysfunction, with the result that the subcutaneous adipose tissue is difficult or impossible to reduce by caloric limitation and increased energy expenditure. - Diet-resistant subcutaneous adipose tissue + Diet-resistant subcutaneous adipose tissue @@ -492017,7 +492578,7 @@ Areas of subcutanous fat tissue below the waist that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery. 2017-04-21T11:55:24Z - Diet-resistant subcutaneous adipose tissue below waist + Diet-resistant subcutaneous adipose tissue below waist @@ -492029,7 +492590,7 @@ Depression of profile in both temporal regions. 2017-04-21T12:00:17Z - Bitemporal hollowing + Bitemporal hollowing @@ -492043,7 +492604,7 @@ Pill rolling The name pill rolling derives from the movements that pharmacists made in earlier times when making pills by rolling them together. - Pill-rolling tremor + Pill-rolling tremor @@ -492056,7 +492617,7 @@ 2017-04-22T11:06:53Z The vast majority of thyroid nodules are benign (noncancerous), but a small proportion of thyroid nodules do contain thyroid cancer. - Thyroid nodule + Thyroid nodule @@ -492066,16 +492627,16 @@ - High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities. + High-resolution computed tomography (HRCT) can distinguish findings that characterize characterize interstitial lung diseases in a way not possible with other modalities. 2017-04-22T12:46:42Z Pulmonary interstitiatial HRCT abnormality - Pulmonary interstitial high-resolution computed tomography abnormality + Pulmonary interstitial high-resolution computed tomography abnormality - High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities. + High-resolution computed tomography (HRCT) can distinguish findings that characterize characterize interstitial lung diseases in a way not possible with other modalities. PMID:23247773 @@ -492091,16 +492652,16 @@ - On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh. + On pulmonary high-resolution computed tomography, reticular pattern is characterized by innumerable interlacing shadows suggesting a mesh. 2017-04-22T12:55:23Z The constituents of the reticular pattern may be all or some of the following: interlobular septal thickening, intralobular interstitial thickening, wall cysts of honeycombing, peribronchovascular interstitial thickening and traction bronchiectasis/bronchiolectasis - Reticular pattern on pulmonary HRCT + Reticular pattern on pulmonary HRCT - On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh. + On pulmonary high-resolution computed tomography, reticular pattern is characterized by innumerable interlacing shadows suggesting a mesh. PMID:23247773 @@ -492117,7 +492678,7 @@ Crazy paving pattern on pulmonary HRCT Crazy-paving pattern See Figure 20 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. - Crazy paving pattern + Crazy paving pattern @@ -492133,15 +492694,15 @@ - A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter. + A nodular pattern is characterized on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter. 2017-04-22T12:59:43Z - Nodular pattern on pulmonary HRCT + Nodular pattern on pulmonary HRCT - A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter. + A nodular pattern is characterized on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter. PMID:23247773 @@ -492154,7 +492715,7 @@ Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography. 2017-04-22T13:02:17Z - Reticulonodular pattern on pulmonary HRCT + Reticulonodular pattern on pulmonary HRCT @@ -492172,7 +492733,7 @@ On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema. 2017-04-22T13:03:59Z - Cystic pattern on pulmonary HRCT + Cystic pattern on pulmonary HRCT @@ -492190,7 +492751,7 @@ Co-occurrence of the cystic pattern and the ground-glass pattern on pulmonary high-resolution computed tomography, 2017-04-22T13:05:42Z - Combined cystic and ground-glass pattern on pulmonary HRCT + Combined cystic and ground-glass pattern on pulmonary HRCT @@ -492209,7 +492770,7 @@ 2017-04-22T13:08:16Z Black lung pattern on pulmonary HRCT - Decreased attenuation pattern on pulmonary HRCT + Decreased attenuation pattern on pulmonary HRCT @@ -492228,7 +492789,7 @@ 2017-04-22T13:10:01Z Mosaic attenuation pattern may represent patchy interstitial disease, obliterative small airways disease, or occlusive small vascular disease. - Mosaic attenuation pattern on pulmonary HRCT + Mosaic attenuation pattern on pulmonary HRCT @@ -492246,7 +492807,7 @@ A nodular pattern on pulmonary high-resolution computed tomography that has a perilymphatic distribution. 2017-04-22T13:12:36Z - Nodular-perilymphatic pattern on pulmonary HRCT + Nodular-perilymphatic pattern on pulmonary HRCT @@ -492265,7 +492826,7 @@ 2017-04-22T13:13:21Z The pattern reflects a spectrum of endobronchiolar and peribronchiolar disorders, including mucoid impaction, inflammation, fibrosis and occasionally endovascular disorders such as neoplastic processes. - Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT + Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT @@ -492284,7 +492845,7 @@ 2017-04-22T13:13:45Z Miliary tuberculosis and miliary metastasis are two diseases entities that can be characterized by a ranom nodular pattern on pulmonary HRCT. - Nodular-random pattern on pulmonary HRCT + Nodular-random pattern on pulmonary HRCT @@ -492304,7 +492865,7 @@ Staring eyes This is a neurological anomaly that can be observed in Parkinson and certain other diseases. - Staring gaze + Staring gaze @@ -492322,7 +492883,7 @@ Square wave jerks are saccadic eye movements which, when recorded with open eyes are considered to be a pathological sign, caused by fixation instability, and pointing to a central neurological lesion. 2017-04-22T14:07:11Z - Square-wave jerks + Square-wave jerks @@ -492340,7 +492901,7 @@ A habitual positioning of the body with the head and upper back bent forward. 2017-04-22T14:18:27Z - Stooped posture + Stooped posture @@ -492352,7 +492913,7 @@ Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location. 2017-04-22T14:29:49Z - Abnormal visual fixation + Abnormal visual fixation @@ -492366,7 +492927,7 @@ Instability of ocular fixation Eye movements are made several times a second to place and hold images of objects of interest onto the central part of the retina, the fovea, where visual acuity is best. These eye movements fall into two main classes. Saccades are fast and brief movements, reaching peak speeds of hundreds of degrees per second and lasting only tens of milliseconds that quickly shift new visual images to the fovea. Smooth pursuit eye movements are slow and continuous, steadily rotating the eyes to track any motion of the visual target, minimizing the retinal slip and the resulting blur that might otherwise reduce spatial acuity. Between these movements, the eyes are held relatively still. These periods of steady fixation are the result of a dynamic process that appears to be actively controlled by many of the same brain structures involved in the generation of goal-directed eye movements. - Visual fixation instability + Visual fixation instability @@ -492388,7 +492949,7 @@ Weakness Prostration Asthenia is to be distinguished from fatigue, because asthenia refers to a sensation of exhaustion which occurs before any effort. Asthenia is to be distinguished from myasthenia, which means a specific weakness of one or more muscles. Asthenia and fatigue can coexist. - Asthenia + Asthenia @@ -492414,7 +492975,7 @@ 2017-04-23T10:24:54Z Urethrorectal fistula - Rectourethral fistula + Rectourethral fistula @@ -492467,7 +493028,7 @@ 2017-04-23T10:55:52Z Splenic lesion - Abnormal spleen morphology + Abnormal spleen morphology @@ -492519,7 +493080,7 @@ Any anomaly of the function of the spleen. 2017-04-23T10:56:59Z - Abnormal spleen physiology + Abnormal spleen physiology @@ -492533,7 +493094,7 @@ 2017-04-23T10:58:17Z The spleen is located in close proximitiy to the gonads during early embryological development, which may facilitate fusion. Splenogonadal fusion may be divided into continuous or discontinuous types, with the gonad being directly attached to the spleen in the continuous type . The discontinuous type consists of gonadal fusion with an accessory spleen or ectopic splenic tissue. - Splenogonadal fusion + Splenogonadal fusion @@ -492552,7 +493113,7 @@ 2017-04-23T11:16:18Z The fossa navicularis is the small normal dilatation of the distal penile urethra. - Fossa navicularis urethral stricture + Fossa navicularis urethral stricture @@ -492570,7 +493131,7 @@ A type of urethral stricture affecting the pendulous urethra, which is straight and fixed to the corpora cavernosa. 2017-04-23T11:17:06Z - Pendulous urethral stricture + Pendulous urethral stricture @@ -492588,7 +493149,7 @@ A type of urethral stricture affecting the bulbar urethra, which is the part of the urethra that traverses the root of the penis. 2017-04-23T11:17:53Z - Bulbar urethral stricture + Bulbar urethral stricture @@ -492600,7 +493161,7 @@ A narrowing of the vagina owing to scar formation. 2017-04-23T11:24:25Z - Vaginal stricture + Vaginal stricture @@ -492612,7 +493173,7 @@ Urethra more open or expanded than normal. 2017-04-23T11:39:39Z - Patulous urethra + Patulous urethra @@ -492667,7 +493228,7 @@ Necrosis of the kidney cortex Renal cortical necrosis is a type of actue kidney injury that results from insufficient perfusion of the renal cortex. Cortical necrosis commonly manifests clinically as a rapid loss of glomerular filtration rate, often with oliguria, granular casts, and low-level proteinuria. The key diagnostic features of renal cortical necrosis are (i) pale tissue with typical appearance of coagulative necrosis, affecting both tubules and glomeruli; (ii) pyknotic nuclei; and (iii) simplified, flattened epithelium of proximal tubules. - Renal cortical necrosis + Renal cortical necrosis @@ -492688,7 +493249,7 @@ Pulmonary pneumatocoele See Figure 52 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. - Pulmonary pneumatocele + Pulmonary pneumatocele @@ -492714,7 +493275,7 @@ Diffuse alveolar haemorrhage Diffuse alveolar hemorrhage is a life-threatening and medical emergency that can be caused by numerous disorders and presents with hemoptysis, anemia, and diffuse alveolar infiltrates. - Diffuse alveolar hemorrhage + Diffuse alveolar hemorrhage @@ -492739,7 +493300,7 @@ 2017-04-23T12:21:33Z Spontaneous pneumomediastinum (SPM) is defined as the non-traumatic presence of free air in the mediastinum in a patient with no known underlying disease. The most common etiology for SPM is alveolar rupture, most commonly due to an asthma exacerbation, but also seen with barotrauma, intrathoracic pressure increase, the valsalva maneuver, and withdrawal symptoms of illicit drugs. Other causes of pneumomediastinum include coughing, mechanical ventilation, pneumonitis, emphysema, lung fibrosis, acute respiratory distress syndrome, heroin, marijuana, cocaine use, gas producing infections in the head and neck, tracheobronchial or esophageal rupture and facial fractures that lead to disruption of maxillary sinus walls. - Pneumomediastinum + Pneumomediastinum @@ -492758,7 +493319,7 @@ 2017-04-23T12:33:15Z Pleuropericardial cysts usually are congenital anomalies. after the third week of gestation, the mesoderm separates itself to form pleural, pericardial and peritoneal spaces. Incomplete partitioning can result in a pleuropericardial cyst. - Pleural cyst + Pleural cyst @@ -492817,7 +493378,7 @@ Any anomaly of the structure of the larynx. 2017-04-23T12:44:49Z - Abnormal larynx morphology + Abnormal larynx morphology @@ -492869,7 +493430,7 @@ Any anomaly of the function of the larynx. 2017-04-23T12:46:36Z - Abnormal larynx physiology + Abnormal larynx physiology @@ -492881,7 +493442,7 @@ A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe. 2017-04-23T12:48:07Z - Laryngospasm + Laryngospasm @@ -492935,7 +493496,7 @@ HP:0002109 Abnormality of the bronchi - Abnormal bronchus morphology + Abnormal bronchus morphology @@ -492987,7 +493548,7 @@ Any anomaly of the function of the bronchi. 2017-04-23T12:51:32Z - Abnormal bronchus physiology + Abnormal bronchus physiology @@ -492998,7 +493559,7 @@ HP:4000007 2017-04-23T12:52:53Z - obsolete Bronchospasm + obsolete Bronchospasm true @@ -493011,7 +493572,7 @@ Any anomaly of the vocalizing of an infant's crying, i.e.,the typically loud voice production that is accompanied by tears and agitation. 2017-04-23T12:56:52Z - Abnormal cry + Abnormal cry @@ -493024,7 +493585,7 @@ 2017-04-23T12:59:43Z This type of cry may be observed with cerebral irritability due to factors such as meningitis, hydrocephalus, or kernicterus. High-pitched cry may also be observed with other conditions including Cornelia-de-Lange syndrome. - High-pitched cry + High-pitched cry @@ -493036,7 +493597,7 @@ A type of cry that is abnormal because it is consists of unusually shortened and detached vocalizations. 2017-04-23T13:07:13Z - Staccato cry + Staccato cry @@ -493048,7 +493609,7 @@ A benign epithelial skin tumor manifesting as a slightly elevated circular plaque or nodule with a red, pink or brown color and a diameter up to 22 mm. 2017-04-23T15:58:05Z - Acanthoma + Acanthoma @@ -493061,7 +493622,7 @@ 2017-04-23T16:31:33Z Lecithin cholesterol acyl transferase (LCAT) is a plasma enzyme which esterifies cholesterol, and plays a key role in the metabolism of high-density lipoprotein cholesterol (HDL-C). - Decreased lecithin cholesterol acyl transferase level + Decreased lecithin cholesterol acyl transferase level @@ -493085,7 +493646,7 @@ Reduced circulating 50% hemolytic complement (CH50) activity Reduced hemolytic complement activity Individual complement components can be quantified however this does not provide any information as to the activity of the pathway. The CH50 is a screening assay for the activation of the classical complement pathway and it is sensitive to the reduction, absence and/or inactivity of any component of the pathway. The CH50 tests the functional capability of serum complement components of the classical pathway to lyse sheep red blood cells (SRBC) pre-coated with rabbit anti-sheep red blood cell antibody (haemolysin). When antibody-coated SRBC are incubated with test serum, the classical pathway of complement is activated and haemolysis results. If a complement component is absent, the CH50 level will be zero; if one or more components of the classical pathway are decreased, the CH50 will be decreased. - Reduced circulating CH50 activity + Reduced circulating CH50 activity @@ -493106,7 +493667,7 @@ Increased circulating LDH concentration Increased lactate dehydrogenase level Lactate dehydrogenase catalyzes the interconversion of lactate and pyruvate. - Increased circulating lactate dehydrogenase concentration + Increased circulating lactate dehydrogenase concentration @@ -493126,7 +493687,7 @@ Elevated serum 21-hydroxyprogesterone Elevated serum deoxycorticosterone - Elevated serum 11-deoxycortisol + Elevated serum 11-deoxycortisol @@ -493139,7 +493700,7 @@ 2017-04-23T17:25:02Z Macrocephalic sperm head - Macrozoospermia + Macrozoospermia @@ -493217,7 +493778,7 @@ Inflammation (due to infection or irritation) of the pharynx. 2017-04-24T00:03:24Z - Pharyngitis + Pharyngitis @@ -493230,7 +493791,7 @@ 2017-04-24T00:16:58Z Warm reactive antibodies react with the patients own RBCs and typically bind to all reagent or donor RBCs against which they are tested. However, they sometimes have specificity (absolute or relative) for a blood group antigen, most commonly a member of the Rh blood group system. Warm reactive autoantibodies are usually polyclonal IgG antibodies, although IgA or monomeric IgM antibodies are seen occasionally. - Warm reactive autoantibody positivity + Warm reactive autoantibody positivity @@ -493289,7 +493850,7 @@ 2017-04-24T00:51:04Z Calcification of the Achilles tendon - Achilles tendon calcification + Achilles tendon calcification @@ -493301,7 +493862,7 @@ An abnormality of the function of the cardiac atria. 2017-04-29T17:10:13Z - Abnormal cardiac atrial physiology + Abnormal cardiac atrial physiology @@ -493314,7 +493875,7 @@ 2017-04-29T21:34:14Z Decrease in amygdala volume - Reduced amygdala volume + Reduced amygdala volume @@ -493326,9 +493887,9 @@ Any structural anomaly of the papillary muscles of the left ventricle. 2017-04-30T10:43:49Z - Morphological abnormality of the papillary muscles + Morphological abnormality of the papillary muscles There are normally two papillary muscles. The antero-lateral papillary muscle is located in the apical third of the ventricular wall, and the postero-medial papillary muscle is located in the middle third of the ventricular wall. The antero-lateral papillary muscle is usually composed of one body or head, and the postero-medial papillary muscle usually with two bodies or heads. Each papillary muscle provides chordae to both leaflets of the mitral valve, with one of the major functions of the papillary muscles being to prevents prolapse of anterior and posterior cusps of mitral valve during systole. - Abnormal papillary muscle morphology + Abnormal papillary muscle morphology @@ -493347,7 +493908,7 @@ 2017-04-30T10:50:30Z This malformation consists of a direct continuity between a hypertrophied papillary muscle and the anterior mitral leaflet (Normally, the papillary muscle is connected to the leaflet via the chordae tendinae). Themalformation can be identified echocardiographically. It results in a long rigid area of mid-cavity narrowing that in turn can cause left ventricular outflow tract obstruction. - Anomalous insertion of papillary muscle directly into anterior mitral leaflet + Anomalous insertion of papillary muscle directly into anterior mitral leaflet @@ -493365,7 +493926,7 @@ Abnormal location of the insertion of a papillary muscle into the left ventricular wall. 2017-04-30T10:59:28Z - Displacement of the papillary muscles + Displacement of the papillary muscles @@ -493379,7 +493940,7 @@ Anteriorly displaced papillary muscles Possible mechanisms for systolic anterior motion with anterior displacement of the papillary muscles (PM): (1) the normal posterior component of PM tension is reduced by anterior displacement of the muscle tips; (2) interposing the leaflets into the streamlines of flow causes drag forces with an anterior component; and (3) pulling up the posterior leaflet so that it meets the anterior leaflet closer to its base creates a long, overlapping residual leaflet, as seen clinically. This leaflet portion is relatively free to move anteriorly, unlike the coapted leaflet bodies that are restrained by the balance of ventricular and atrial pressures acting across them. The angle between the posterior leaflet and posterior wall is increased [PMID:7850958]. - Anterior displacement of the papillary muscles + Anterior displacement of the papillary muscles @@ -493398,7 +493959,7 @@ 2017-04-30T11:02:45Z Apically displaced papillary muscles - Apically displaced anterolateral papillary muscle + Apically displaced anterolateral papillary muscle @@ -493411,7 +493972,7 @@ 2017-05-04T10:21:37Z Testicular adrenal rest tumour - Testicular adrenal rest tumor + Testicular adrenal rest tumor @@ -493435,8 +493996,8 @@ A deep skin ulcer with a well defined border, which is usually violet or blue. The ulcer edge is often undermined (worn and damaged) and the surrounding skin is erythematous and indurated. The ulcer often starts as a small papule or collection of papules, which break down to form small ulcers with a so called cat's paw appearance. These coalesce and the central area then undergoes necrosis to form a single ulcer. 2017-05-04T10:30:38Z - Pyoderma gangrenosum can occur on any skin surface, but is most commonly seen on the legs. Patients are often systemically unwell with symptoms such as fever, malaise, arthralgia, and myalgia. Lesions are usually painful and the pain can be severe. When the lesions heal the scars are often cribriform. About half of the cases are associated with underlying systemic conditions, such as inflammatory bowel disease, arthritis, and haematological malignancies. - Pyoderma gangrenosum + Pyoderma gangrenosum can occur on any skin surface, but is most commonly seen on the legs. Patients are often systemically unwell with symptoms such as fever, malaise, arthralgia, and myalgia. Lesions are usually painful and the pain can be severe. When the lesions heal the scars are often cribriform. About half of the cases are associated with underlying systemic conditions, such as inflammatory bowel disease, arthritis, and hematological malignancies. + Pyoderma gangrenosum @@ -493454,7 +494015,7 @@ Occurence of adrenarche at a later than normal age. Adrenarche normally occurs between six and eight years of age with increased adrenal androgen secretion; its exact biologic role is not well understood. It is accompanied by changes in pilosebaceous units, a transient growth spurt and the appearance of axillary and pubic hair in some children, but no sexual development. 2017-05-04T10:41:47Z - Delayed adrenarche + Delayed adrenarche @@ -493544,7 +494105,7 @@ HP:0032207 Abnormal CSF metabolite level Abnormal cerebrospinal fluid metabolite concentration - Abnormal CSF metabolite concentration + Abnormal CSF metabolite concentration @@ -493565,7 +494126,7 @@ Decreased CSF 5-HIAA Low CSF 5-HIAA Low CSF 5-hydroxyindolacetic acid - Decreased CSF 5-hydroxyindolacetic acid concentration + Decreased CSF 5-hydroxyindolacetic acid concentration @@ -493658,7 +494219,7 @@ 2017-05-05T10:32:59Z Abnormal CSF protein level - Abnormal CSF protein concentration + Abnormal CSF protein concentration @@ -493734,7 +494295,7 @@ Decreased cerebrospinal fluid total protein Hypoproteinorrhachia Low CSF total protein - Decreased CSF protein concentration + Decreased CSF protein concentration @@ -493820,7 +494381,7 @@ 2017-05-05T10:46:15Z Low CSF albumin - Decreased CSF albumin concentration + Decreased CSF albumin concentration @@ -493845,7 +494406,7 @@ An increase above normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration. 2017-05-05T10:50:18Z - Increased CSF/serum albumin ratio + Increased CSF/serum albumin ratio @@ -493859,7 +494420,7 @@ High myo-inositol in brain by MRS Myo-Inositol (MI) is one of the most abundant metabolites in the human brain located mainly in glial cells and functions as an osmolyte. The concentration of MI is altered in many brain disorders including Alzheimer's disease and brain tumors. - High myoinositol in brain by MRS + High myoinositol in brain by MRS @@ -493918,7 +494479,7 @@ Any anomaly of cell structure. 2017-05-07T11:14:54Z - Abnormal cell morphology + Abnormal cell morphology @@ -493928,7 +494489,7 @@ HP:0011017 2017-05-07T11:16:16Z - obsolete Abnormal cellular physiology + obsolete Abnormal cellular physiology true @@ -493981,7 +494542,7 @@ An abnormality of the processes that maintain the redox environment of a cell or compartment within a cell, that is, the balance between reduction and oxidation chemical reactions. 2017-05-07T11:17:15Z - Abnormality of redox activity + Abnormality of redox activity @@ -493995,7 +494556,7 @@ Increased ROS production Oxidative stress - Increased reactive oxygen species production + Increased reactive oxygen species production @@ -494020,7 +494581,7 @@ 2017-05-07T11:35:19Z The name beta globulin comes from the fact that protein electrophoresis of serum proteins results in a characteristic pattern of albumins, alpha, beta, and gamma globulins. - Abnormal circulating beta globulin level + Abnormal circulating beta globulin level @@ -494032,7 +494593,7 @@ Increased level of beta 2-microglobulins in the urine. 2017-05-07T11:50:10Z - Beta 2-microglobulinuria + Beta 2-microglobulinuria @@ -494045,7 +494606,7 @@ 2017-05-14T11:20:58Z Anagen effluvium is the result of a disturbance of proliferative activity of hair follicle matrix cells, which leads to the narrowing and subsequent breakage of the proximal portion of hair shafts. This type of hair loss can be caused by systemic chemotherapy or by radiotherapy to the head. - Anagen effluvium + Anagen effluvium @@ -494063,7 +494624,7 @@ A type of hair loss characterized by an abnormal increase in dormant, telogen stage hair follicles. 2017-05-14T11:23:33Z - Telogen effluvium + Telogen effluvium @@ -494075,7 +494636,7 @@ A hamartomatous proliferation containing malformed hair follicles in various stages of development. Panfolliculomas are well-circumscribed lesions demonstrating all stages of follicular differentiation. 2017-05-14T11:57:54Z - Congenital panfollicular nevus + Congenital panfollicular nevus @@ -494093,7 +494654,7 @@ A history of repeated fungal infections located on the sole of the foot, usually manifested by scaling, maceration, and itching. 2017-05-14T12:31:56Z - Recurrent plantar mycosis + Recurrent plantar mycosis @@ -494105,7 +494666,7 @@ A papule (circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point) that exhibits increased pigmentation (is darker) compared to the surrounding skin. 2017-05-14T12:34:40Z - Hyperpigmented papule + Hyperpigmented papule @@ -494118,7 +494679,7 @@ 2017-05-14T12:38:07Z Violaceous plaque - Erythematous plaque + Erythematous plaque @@ -494131,7 +494692,7 @@ 2017-05-14T12:43:04Z Numerous tones of red ranging from pink to violaceous are subsumed under the category of erythematous. - Erythematous macule + Erythematous macule @@ -494145,7 +494706,7 @@ 2017-05-14T12:49:41Z Testicular lipomatosis may be a sign of Cowden disease. - Testicular lipomatosis + Testicular lipomatosis @@ -494205,7 +494766,7 @@ Calcified deposits in soft tissue structures outside a joint. 2017-05-14T13:23:02Z - Periarticular calcification + Periarticular calcification @@ -494218,7 +494779,7 @@ 2017-05-14T13:28:03Z Silent atrium - Atrial standstill + Atrial standstill @@ -494251,7 +494812,7 @@ - A type of spinal dysraphism presenting as a subcutaneous fatty mass, that is, a spinal defect associated with lipomatous tissue, and covered by skin. The most usual location for lipomyelomeningocele is at the gluteal cleft. + A type of spinal dysraphism presenting as a subcutaneous fatty mass, that is, a spinal defect associated with lipomatous tissue, and covered by skin. The most usual location for lipomyelomeningocele is at the gluteal cleft. 2017-05-14T13:52:18Z Lipomyelomeningocele @@ -494266,7 +494827,7 @@ Absence of one half of the vertebral body in the cervical spine. 2017-05-14T13:58:48Z - Cervical hemivertebrae + Cervical hemivertebrae @@ -494279,7 +494840,7 @@ 2017-05-14T16:04:53Z Individuals with Pendred syndrome may show a positive perchlorate discharge test. - Positive perchlorate discharge test + Positive perchlorate discharge test @@ -494298,7 +494859,7 @@ 2017-05-14T16:14:10Z Abnormal circulating thyroglobulin level - Abnormal circulating thyroglobulin concentration + Abnormal circulating thyroglobulin concentration @@ -494311,7 +494872,7 @@ 2017-05-14T16:15:57Z Increased circulating thyroglobulin level - Increased circulating thyroglobulin concentration + Increased circulating thyroglobulin concentration @@ -494324,7 +494885,7 @@ 2017-05-14T16:40:27Z Spontaneous vaginal adenosis appears to be a fairly common (present in about 10% of adult women) but mostly insignificant coincidental finding. In women prenatally exposed to diethylstilboestrol (DES), vaginal adenosis may arise in up to 90% and is associated with a high risk of vaginal carcinoma. - Vaginal adenosis + Vaginal adenosis @@ -494342,7 +494903,7 @@ The outer labia are sealed together. 2017-05-14T17:00:54Z - Fused labia majora + Fused labia majora @@ -494394,8 +494955,8 @@ Any structural anomaly of the bladder. 2017-05-14T17:07:03Z - Abnormality of bladder morphology - Abnormal bladder morphology + Abnormality of bladder morphology + Abnormal bladder morphology @@ -494408,7 +494969,7 @@ 2017-05-14T17:09:10Z Detrusor sphincter dyssynergia (DSD) is associated with neurologic conditions such as spinal cord injury, multiple sclerosis, and spina bifida and some of these neurogenic bladder patients with DSD may be at risk for autonomic dysreflexia, recurrent urinary tract infections, or upper tract compromise if the condition is not followed and treated appropriately. It is diagnosed most commonly during the voiding phase of urodynamic studies using EMG recordings and voiding cystourethrograms, although urethral pressure monitoring could also potentially be used. - Detrusor sphincter dyssynergia + Detrusor sphincter dyssynergia @@ -494466,7 +495027,7 @@ A congenital anomaly characterized by the presence of two bladders. 2017-05-14T17:16:59Z - Bladder duplication + Bladder duplication @@ -494486,7 +495047,7 @@ Intramyocardial coronary artery course Myocardial bridging, in which a tunneled segment of the artery under the bridge of overlying myocardium frequently results in vessel compression during systole. While frequently asymptomatic, this condition in many cases may be responsible for adverse complications including angina, myocardial ischemia, acute coronary syndromes, left ventricular dysfunction, arrhythmias, and even sudden cardiac death. - Myocardial bridging + Myocardial bridging @@ -494505,7 +495066,7 @@ 2017-05-14T19:22:38Z Venous stenosis can be secondary to placement of central venous catheters, pacemaker leads, hemodialysis catheters, prior radiation, trauma, or extrinsic compression by musculoskeletal structures. - Venous stenosis + Venous stenosis @@ -494518,7 +495079,7 @@ A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs. 2017-05-14T19:32:33Z - Microcoria + Microcoria @@ -494536,7 +495097,7 @@ Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin. 2017-05-14T19:34:38Z - Palmoplantar erythema + Palmoplantar erythema @@ -494549,7 +495110,7 @@ 2017-05-14T19:37:34Z This feature is characteristic of Erdheim Chester disease. - Coated aorta + Coated aorta @@ -494568,7 +495129,7 @@ 2017-05-14T19:49:11Z Coarctation of the aorta is defined as significant luminal narrowing of the aorta that produces hemodynamically significant obstruction to the flow of blood. This process may affect a short isolated segment of the aorta or a longer and more diffuse segment. When longer segments of the aorta are narrowed, the term hypoplasia is often used. Much less common than segmental coarctation, aortic hypoplasia has been described in all portions of the thoracic and abdominal aorta. - Descending aorta hypoplasia + Descending aorta hypoplasia @@ -494587,7 +495148,7 @@ Any anomaly of the function of a coronary artery. 2017-05-14T19:58:27Z - Abnormal coronary artery physiology + Abnormal coronary artery physiology @@ -494601,7 +495162,7 @@ Coronary artery vasospasm Severe chest pain, usually without physical effort and with a concurrent ECG showing transient ST elevation, is the key for the diagnosis of coronary artery spasm. - Coronary artery spasm + Coronary artery spasm @@ -494620,7 +495181,7 @@ 2017-05-14T20:03:35Z Aceruloplasminaemia - Aceruloplasminemia + Aceruloplasminemia @@ -494639,7 +495200,7 @@ 2017-05-14T20:06:40Z Obesity grade 1 - Class I obesity + Class I obesity @@ -494652,7 +495213,7 @@ 2017-05-14T20:08:43Z Obesity grade 2 - Class II obesity + Class II obesity @@ -494665,7 +495226,7 @@ 2017-05-14T20:09:17Z Obesity grade 3 - Class III obesity + Class III obesity @@ -494677,7 +495238,7 @@ Increased body weight with a body mass index of 25-29.9 kg per square meter. 2017-05-14T20:12:36Z - Overweight + Overweight @@ -494690,7 +495251,7 @@ 2017-05-14T22:28:08Z There are three sinus in the wall of the aorta just superior to the aortic semilunar valve. The right coronary artery normally arises from the right sinus of Valsalva (RSV) of the ascending aorta. The left main coronary artery (LMCA) normally arises from the left sinus of Valsava. The third sinus, the right posterior aortic sinus does not normally give rise to a coronary artery. - Anomalous coronary artery arising from the opposite sinus + Anomalous coronary artery arising from the opposite sinus @@ -494709,7 +495270,7 @@ The circumflex coronary artery originates from the right aortic sinus of Valsalva. 2017-05-14T23:16:37Z - Anomalous origin of the circumflex artery from the right sinus of Valsalva + Anomalous origin of the circumflex artery from the right sinus of Valsalva @@ -494729,7 +495290,7 @@ Anomalous coronary artery with aortic origin and course between the great arteries Further synonyms include Anomalous origin of the coronary artery from the opposite sinus of Valsalva with an interarterial course and Anomalous origin of the coronary artery from the wrong sinus of Valsalva with a proximal course between the aorta and pulmonary artery - Coronary artery sandwich anomaly + Coronary artery sandwich anomaly @@ -494749,7 +495310,7 @@ Yellow-orange papule The yellow color may be related to lipid accumulation such as xanthomata or sebaceous gland lesions. This term additionally includes lesions described as yellow-orange. - Yellow papule + Yellow papule @@ -494762,7 +495323,7 @@ 2017-05-14T23:39:07Z Gottron papules - Gottron's papules + Gottron's papules @@ -494780,7 +495341,7 @@ Flesh-colored or yellowish papules, 2 mm or larger, that are responses to internal mechanical pressure and weakness in the connective tissue in the dermis, appear commonly over the medial aspect of the heel, but in some cases on the wrists. They are thought to represent herniations of adipose tissue through the plantar fascia retinaculum. 2017-05-14T23:43:34Z - Piezogenic pedal papules + Piezogenic pedal papules @@ -494793,7 +495354,7 @@ 2017-05-15T00:49:05Z Speckled lentiginous Nevus - Nevus spilus + Nevus spilus @@ -494805,7 +495366,7 @@ A solitary yellow-orange slightly raised plaque typically on scalp or face. The plaque typically thickens and becomes more verrucous or pebbly during childhood. 2017-05-15T00:51:20Z - Nevus sebaceus + Nevus sebaceus @@ -494818,7 +495379,7 @@ 2017-05-15T01:07:06Z Flesh-colored papule - Skin-colored papule + Skin-colored papule @@ -494837,7 +495398,7 @@ 2017-05-15T01:54:50Z Scleral rupture may occur following trauma or may be observed with some types of Ehlers Danlos syndrome and other disorders. The rupture may be hidden by an intact conjunctiva. - Scleral rupture + Scleral rupture @@ -494850,10 +495411,17 @@ 2017-05-15T02:00:59Z Morning glory disc anomaly + Morning glory disk anomaly Morning glory optic disc The name of this anomaly derives from a perceived similarity of the anomaly to the morning glory flower. - Morning glory anomaly + Morning glory anomaly + + + + Morning glory disc anomaly + + @@ -494864,7 +495432,7 @@ Later than normal development of the breasts. 2017-05-15T02:12:37Z - Delayed thelarche + Delayed thelarche @@ -494876,7 +495444,7 @@ A congenital malformation with abnormal connection between one of the coronary arteries and the pulmonary artery. 2017-05-16T01:14:11Z - Coronary-pulmonary artery fistula + Coronary-pulmonary artery fistula @@ -494896,7 +495464,7 @@ Small hippocampus Underdeveloped hippocampus - Hypoplastic hippocampus + Hypoplastic hippocampus @@ -494914,8 +495482,8 @@ An abnormality of gaze that can be observed following an acute supranuclear cerebral lesion (e.g., stroke) that is characterized by an acute inability to direct gaze contralateral to the side of the lesion and is accompanied by a tendency for tonic deviation of the eyes toward the side of the lesion. 2017-05-17T01:15:33Z - With visual gaze preference due to an acute supranuclear cerebral lesion, the oculocephalic reflex (which can be elicited by the so called Doll's head manoeuvre) is intact. The head is briskly turned from side to side with the head held briefly at the end of each turn. If the brainstem and infranuclear pathways are intact, then the eyes rotate to the opposite side to the direction of head rotation. Stroke is the most common etiology of this finding. - Visual gaze preference + With visual gaze preference due to an acute supranuclear cerebral lesion, the oculocephalic reflex (which can be elicited by the so called Doll's head maneuver) is intact. The head is briskly turned from side to side with the head held briefly at the end of each turn. If the brainstem and infranuclear pathways are intact, then the eyes rotate to the opposite side to the direction of head rotation. Stroke is the most common etiology of this finding. + Visual gaze preference @@ -494931,7 +495499,7 @@ Von Meyenburg complexes Biliary hamartoma Multiple biliary hamartomas are part of the wider spectrum of ductal plate malformation where there is congenital malformation of the biliary duct. Multiple biliary hamartomas can be diagnosed using magnetic resonance imaging which shows multiple hyper-intense cystic nodules not communicating with the biliary tree. The diagnosis can be confirmed on liver histology. Multiple biliary hamartomas are usually an incidental finding without symptoms. There have been rare associations with development of cholangiocarcinoma. - Multiple biliary hamartomas + Multiple biliary hamartomas @@ -494951,7 +495519,7 @@ Cutaneous calcification The lesions observed incalcinosis cutis are firm papules, plaues, or nodules that have a whitish or yellowish color. Lesions may be solitary but it is more common to observe multiple lesions. The lesions may develop ulceration with a discharge of a chalk-like substance. The lesions can be painful, espcially if they are located on the fingertips. Lesions at other sites may limit joint mobility or stiffen the skin. - Calcinosis cutis + Calcinosis cutis @@ -494963,7 +495531,7 @@ The percentage of fat as a part of total body weight above the norm, usually defined as 32% for females and 25% for males. 2017-05-17T22:56:46Z - Increased body fat percentage + Increased body fat percentage @@ -495015,7 +495583,7 @@ Abnormal increased in length of the chordae tendinae of the mitral valve. 2017-05-17T23:42:26Z - Elongated chordae tendinae of the mitral valve + Elongated chordae tendinae of the mitral valve @@ -495067,7 +495635,7 @@ A structural anomaly of the chordae tendinae of the mitral valve, whose main function is to transmit the contraction and relaxation of the papillary muscles during the cardiac cycle, thus ensuring the closing of the leaflets of the mitral valve. 2017-05-17T23:44:02Z - Abnormal morphology of the chordae tendinae of the mitral valve + Abnormal morphology of the chordae tendinae of the mitral valve @@ -495086,7 +495654,7 @@ 2017-05-17T23:50:31Z Palmoplantar psoriasis - Palmoplantar scaling skin + Palmoplantar scaling skin @@ -495098,7 +495666,7 @@ Loss of the outer layer of the epidermis in large, scale-like flakes localized to one or more fingertips. 2017-05-17T23:53:56Z - Scaling skin on fingertip + Scaling skin on fingertip @@ -495113,7 +495681,7 @@ Psoriatic-like lesion Erythemato-squamous plaque Erythematosquamous plaque - Psoriasiform lesion + Psoriasiform lesion @@ -495126,7 +495694,7 @@ 2017-05-18T00:05:10Z Serpiginous eruption - Serpiginous cutaneous lesion + Serpiginous cutaneous lesion @@ -495138,7 +495706,7 @@ A lesion of the skin with a ring-like distribution. 2017-05-18T00:14:03Z - Annular cutaneous lesion + Annular cutaneous lesion @@ -495150,7 +495718,7 @@ A nodule of the skin that exhibits an increased amount of pigmentation. 2017-05-18T00:19:15Z - Hyperpigmented nodule + Hyperpigmented nodule @@ -495164,7 +495732,7 @@ Xanthoma palmare striatum Xanthoma striatum palmare - Xanthomas of the palmar creases + Xanthomas of the palmar creases @@ -495173,16 +495741,16 @@ - The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body. + The Harlequin phenomenon consists of a sudden change in skin color, resulting in two different body colors, one on each half of the body. 2017-05-18T00:38:26Z The Harlequin phenomenon (HF) is most common in the newborn and can be a generalized phenomenon or only involve a specific body area. The HF of the newborn is thought to be secondary to a relative hypothalamic control immaturity of the sympathetic peripheral vascular tonus, although it has also been described in other age groups, primarily located to the face and neck and mostly caused by a sympathetic disautonomy. While certainly peculiar, the HF is a benign event in the newborn. - Harlequin phenomenon + Harlequin phenomenon - The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body. + The Harlequin phenomenon consists of a sudden change in skin color, resulting in two different body colors, one on each half of the body. PMID:21575077 @@ -495196,7 +495764,7 @@ 2017-05-18T00:41:57Z A positive pathergy test indicates the immune system is overreacting to a minor injury. A positive test result can be seen in Behcet disease and other conditions. - Positive pathergy test + Positive pathergy test @@ -495208,7 +495776,7 @@ 2017-05-18T01:05:51Z A swelling of the skin in which the skin is tethered by the sweat ducts it contains producing tiny dimples. THe overall appearance is said to resemble the skin (peal) of an orange. - Peau d'orange + Peau d'orange @@ -495223,7 +495791,7 @@ Melanosis oculi Ocular melanosis In ocular melanocytosis, Intraocular pigmentation is also increased, which contributes to a higher incidence of glaucoma and increases the risk of malignant melanoma. - Ocular melanocytosis + Ocular melanocytosis @@ -495236,7 +495804,7 @@ 2017-05-18T01:20:11Z This feature may be observed with dermatomyositis and polymyositis. - Shawl sign + Shawl sign @@ -495255,7 +495823,7 @@ 2017-05-18T01:20:44Z This feature may be observed with dermatomyositis and polymyositis. - V-sign + V-sign @@ -495274,7 +495842,7 @@ 2017-05-18T01:29:36Z Plantar oedema - Plantar edema + Plantar edema @@ -495333,7 +495901,7 @@ 2017-05-18T01:30:09Z Palmar oedema - Palmar edema + Palmar edema @@ -495350,7 +495918,7 @@ 2017-06-12T15:24:43Z - Abnormal B cell subset distribution + Abnormal B cell subset distribution @@ -495362,7 +495930,7 @@ Any abnormality in the proportion T cells subsets relative to the total number of T cells. 2017-06-12T15:27:58Z - Abnormal T cell subset distribution + Abnormal T cell subset distribution @@ -495372,7 +495940,7 @@ HP:0005339 - obsolete Decreased activity of complement receptor + obsolete Decreased activity of complement receptor true @@ -495390,7 +495958,7 @@ Abnormal mean corpuscular Hb concentration Abnormal mean corpuscular haemoglobin Abnormal mean corpuscular haemoglobin concentration - Abnormal mean corpuscular hemoglobin concentration + Abnormal mean corpuscular hemoglobin concentration @@ -495437,7 +496005,7 @@ Decreased mean corpuscular Hb concentration Decreased mean corpuscular haemoglobin Decreased mean corpuscular haemoglobin concentration - Decreased mean corpuscular hemoglobin concentration + Decreased mean corpuscular hemoglobin concentration @@ -495484,7 +496052,7 @@ Increased mean corpuscular Hb concentration Increased mean corpuscular haemoglobin Increased mean corpuscular haemoglobin concentration - Increased mean corpuscular hemoglobin concentration + Increased mean corpuscular hemoglobin concentration @@ -495528,7 +496096,7 @@ Eccentric fixation A anomaly in which a part of the retina other than the fovea is used for visual fixation. The fovea usually retains its straight ahead orientation. Eccentric fixation may be present under conditions of viewing with one or both eyes. However, it is more easily diagnosed monocularly (especially if the better eye is covered). - Eccentric visual fixation + Eccentric visual fixation @@ -495609,7 +496177,7 @@ HP:0034933 Increased circulating ribitol concentration Increased level of ribitol in serum - Elevated circulating ribitol concentration + Elevated circulating ribitol concentration @@ -495623,7 +496191,7 @@ Optic pathway misrouting Visual pathway misrouting - Optic nerve misrouting + Optic nerve misrouting @@ -495635,7 +496203,7 @@ Multiple red/purple spots on the skin that surrounds the eyes that do not blanch (whiten) upon pressure. Purpura is caused by subcutaneous bleeding. 2017-07-09T13:14:08Z - Periorbital purpura + Periorbital purpura @@ -495648,7 +496216,7 @@ 2017-07-09T13:16:35Z Raccoon eyes - Periorbital ecchymosis with tarsal plate sparing + Periorbital ecchymosis with tarsal plate sparing @@ -495672,7 +496240,7 @@ A type of skin nodule (a lesions that is greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat) with a yellowish coloration (that reflects a high lipid content of the lesion). 2017-07-09T13:41:25Z - Yellow nodule + Yellow nodule @@ -495690,7 +496258,7 @@ Telangiectasia (small dilated blood vessels) located near to the fingernails or toenails. 2017-07-09T13:50:16Z - Periungual teleangiectasia + Periungual teleangiectasia @@ -495702,7 +496270,7 @@ Lamellar cataracts with associated linear lens opacities radially extending towards the periphery of the lens. 2017-12-13T12:54:00Z - Lamellar cataract with riders + Lamellar cataract with riders @@ -495717,15 +496285,15 @@ - A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown. + A type of cataract characterized by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown. 2017-12-13T13:04:32Z - Coronary cataract + Coronary cataract - A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown. + A type of cataract characterized by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown. @@ -495738,7 +496306,7 @@ Tiny deposits corresponding to cells floating in the anterior chamber of the eye. This appearance is typically associated with intraocular inflammation leading to breakdown of the blood-aqueous barrier and resulting in an increase in the number of cells and in the aqueous humor. Grading (SUN Working Group) is performed by estimating the number of cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. 2017-12-14T13:00:02Z - Anterior chamber cells + Anterior chamber cells @@ -495757,7 +496325,7 @@ Anterior chamber cells with 6-15 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. 2017-12-14T13:15:06Z - Anterior chamber cells grade 1+ + Anterior chamber cells grade 1+ @@ -495775,7 +496343,7 @@ Anterior chamber cells with 1-5 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. 2017-12-14T13:17:41Z - Anterior chamber cells grade 0.5+ + Anterior chamber cells grade 0.5+ @@ -495793,7 +496361,7 @@ Anterior chamber cells with less than one cell in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. 2017-12-14T13:19:21Z - Anterior chamber cells grade 0 + Anterior chamber cells grade 0 @@ -495811,7 +496379,7 @@ Anterior chamber cells with 16-25 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. 2017-12-14T13:21:53Z - Anterior chamber cells grade 2+ + Anterior chamber cells grade 2+ @@ -495829,7 +496397,7 @@ Anterior chamber cells with 26-50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. 2017-12-14T13:23:54Z - Anterior chamber cells grade 3+ + Anterior chamber cells grade 3+ @@ -495841,7 +496409,7 @@ Anterior chamber cells with more than 50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. 2017-12-14T13:24:54Z - Anterior chamber cells grade 4+ + Anterior chamber cells grade 4+ @@ -495856,16 +496424,16 @@ - An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the centre of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months. + An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the center of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months. 2017-12-14T13:33:21Z The condition can be precipitated by psychosocial stress and hypercortisolism. Ophthalmoscopic signs of CSC range from mono- or paucifocal RPE lesions with prominent elevation of the neurosensory retina by clear fluid - typical of cases of recent onset - to shallow detachments overlying large patches of irregularly depigmented RPE. The spectrum of lesions includes RPE detachments. Granular or fibrinous material may accumulate in the subretinal cavity. Serous detachment often resolves spontaneously. - Central serous chorioretinopathy + Central serous chorioretinopathy - An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the centre of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months. + An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the center of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months. PMID:17662099 @@ -495877,7 +496445,7 @@ 2017-12-14T13:37:50Z - Abnormal morphology of the choroidal vasculature + Abnormal morphology of the choroidal vasculature @@ -495890,7 +496458,7 @@ 2017-12-14T13:39:58Z The presence of choroidal polyps and BVN can lead to recurrent episodes of exudative retinal detachment, serous or hemorrhagic pigment epithelial detachment (PED), subretinal hemorrhage, and subretinal exudation. - Polypoidal choroidal vasculopathy + Polypoidal choroidal vasculopathy @@ -495909,7 +496477,7 @@ 2017-12-14T13:49:33Z Choroidal hyperpermeability - Choroidal vascular hyperpermeability + Choroidal vascular hyperpermeability @@ -495924,15 +496492,15 @@ - A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree. + A type of cataract that shows a spectacular display of multiple colors that glitters with the change of incident light like an illuminated Christmas tree. 2017-12-14T13:58:00Z - Christmas tree cataract + Christmas tree cataract - A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree. + A type of cataract that shows a spectacular display of multiple colors that glitters with the change of incident light like an illuminated Christmas tree. PMID:27190856 @@ -495948,7 +496516,7 @@ Lacrimal punctum stenosis Stenosis of the lacrimal punctum Epiphora is a common complaint encountered by ophthalmologists, with a broad differential diagnosis. One of the least discussed etiologies of epiphora is stenosis of the external lacrimal punctum. When it occurs, the most common presenting symptom is tearing, but patients may have vague complaints of ocular discomfort. - Punctal stenosis + Punctal stenosis @@ -495966,7 +496534,7 @@ A mild form of myopia with up to -3.00 diopters. 2017-12-14T14:38:05Z - Mild myopia + Mild myopia @@ -495986,7 +496554,7 @@ 2017-12-15T14:47:24Z Macular haemorrhage - Macular hemorrhage + Macular hemorrhage @@ -496045,7 +496613,7 @@ 2017-12-15T23:00:56Z Fyler:2820 - Abnormal superior vena cava morphology + Abnormal superior vena cava morphology @@ -496104,7 +496672,7 @@ 2017-12-15T23:02:17Z Fyler:2810 - Abnormal inferior vena cava morphology + Abnormal inferior vena cava morphology @@ -496123,7 +496691,7 @@ 2017-12-15T23:47:17Z Fyler:1452 - Aortic valve prolapse + Aortic valve prolapse @@ -496182,7 +496750,7 @@ 2017-12-15T23:54:09Z Fyler:3010 - Abnormal left atrium morphology + Abnormal left atrium morphology @@ -496235,7 +496803,7 @@ 2017-12-15T23:56:01Z Fyler:1770 - Abnormal right atrium morphology + Abnormal right atrium morphology @@ -496248,7 +496816,7 @@ 2018-01-13T19:21:30Z Foveal haemorrhage - Foveal hemorrhage + Foveal hemorrhage @@ -496276,7 +496844,7 @@ Sub-macular haemorrhage Sub-macular hemorrhage Submacular haemorrhage - Submacular hemorrhage + Submacular hemorrhage @@ -496308,7 +496876,7 @@ 2018-01-13T19:32:18Z This appearance is typically seen in female carriers of X-linked RP associated mutations. - Tapetal-like fundal reflex + Tapetal-like fundal reflex @@ -496321,7 +496889,7 @@ A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open. 2018-01-13T19:39:59Z - Hypotropia + Hypotropia @@ -496340,7 +496908,7 @@ Tendency for the visual axis of one eye to be higher than that of the other. 2018-01-13T19:42:23Z - Hyperphoria + Hyperphoria @@ -496359,7 +496927,7 @@ A type of strabismus characterized by permanent upward deviation of the visual axis of one eye. 2018-01-13T19:44:01Z - Hypertropia + Hypertropia @@ -496378,7 +496946,7 @@ 2018-01-13T19:45:45Z Hyperphoria is a latent deviation where the eyes remain aligned under normal binocular vision. Hypertropia is a manifest deviation in which the eyes are not aligned under binocular conditions. - Hyperdeviation + Hyperdeviation @@ -496397,7 +496965,7 @@ 2018-01-13T19:50:55Z Hypophoria is a latent deviation where the eyes remain aligned under normal binocular vision. Hypotropia is a manifest deviation in which the eyes are not aligned under binocular conditions. - Hypodeviation + Hypodeviation @@ -496416,7 +496984,7 @@ 2018-01-13T19:57:49Z Patients with torsional deviations rarely complain of torsional diplopia and thus, cyclotropia has largely not been of significant clinical concern. - Cyclodeviation + Cyclodeviation @@ -496435,7 +497003,7 @@ A functional anomaly of the muscles of the eye. 2018-01-13T20:11:20Z - Abnormal extraocular muscle physiology + Abnormal extraocular muscle physiology @@ -496448,7 +497016,7 @@ 2018-01-13T20:12:43Z A neurological examination includes assessment of the trochlear nerve (CN IV) which innervates the superior oblique muscle. The test for CN IV function is for the patient to depress and adduct the eye (ie. to look down and in). This movement is impaired in the presence of a trochlear nerve palsy. - Abnormal superior oblique muscle physiology + Abnormal superior oblique muscle physiology @@ -496467,7 +497035,7 @@ 2018-01-13T20:17:49Z Superior oblique palsy - Superior oblique muscle weakness + Superior oblique muscle weakness @@ -496480,7 +497048,7 @@ 2018-01-13T20:38:29Z In contrast to deficits produced by primary muscle weakness, restriction means that the affected extraocular muscle cannot move passively any more than actively. - Superior oblique muscle restriction + Superior oblique muscle restriction @@ -496498,7 +497066,7 @@ An ocular motility abnormality characterized by an overacting superior oblique muscle resulting to vertical incomitance of the eyes in lateral gaze. On examination, this is commonly seen as a downshoot of the adducting eye occuring when gaze is directed into the field of action of the inferior oblique muscle, producing a greater downward excursion of the adducted eye than of the abducted eye. 2018-01-13T20:41:15Z - Superior oblique muscle overaction + Superior oblique muscle overaction @@ -496518,7 +497086,7 @@ 2018-01-13T20:46:33Z Under-depression in adduction - Superior oblique muscle underaction + Superior oblique muscle underaction @@ -496537,7 +497105,7 @@ 2018-01-13T20:54:37Z The major functions of the inferior oblique muscle are extorsion (external rotation), elevation, and abduction. - Abnormal inferior oblique muscle physiology + Abnormal inferior oblique muscle physiology @@ -496556,7 +497124,7 @@ 2018-01-13T21:15:59Z In contrast to deficits produces by primary muscle weakness, extraocular muscle restriction cannot move passively any more than actively. - Inferior oblique muscle restriction + Inferior oblique muscle restriction @@ -496575,7 +497143,7 @@ 2018-01-13T21:23:31Z Inferior oblique palsy - Inferior oblique muscle weakness + Inferior oblique muscle weakness @@ -496593,7 +497161,7 @@ A common ocular motility disorder characterized by vertical incomitance of the eyes in lateral gaze. In primary inferior oblique muscle overaction, an upshoot of the adducting eye occurs when gaze is directed into the field of action of the inferior oblique muscle, producing a greater upward excursion of the adducted eye than of the abducted eye. 2018-01-13T21:25:58Z - Inferior oblique muscle overaction + Inferior oblique muscle overaction @@ -496612,7 +497180,7 @@ A functional anomaly of the inferior rectus muscle, which is innervated by the inferior division of oculomotor nerve and functions in the depression, adduction, and lateral rotation (extortion) of the eye. 2018-01-13T21:31:55Z - Abnormal inferior rectus muscle physiology + Abnormal inferior rectus muscle physiology @@ -496630,7 +497198,7 @@ Decreased strength of the inferior rectus muscle. 2018-01-13T22:23:13Z - Inferior rectus muscle weakness + Inferior rectus muscle weakness @@ -496649,7 +497217,7 @@ 2018-01-13T22:24:32Z In contrast to deficits produced by primary muscle weakness, restriction means that the affected extraocular muscle cannot move passively any more than actively. - Inferior rectus muscle restriction + Inferior rectus muscle restriction @@ -496667,7 +497235,7 @@ A functional anomaly of the superior rectus muscle, an extraocular muscle that is innervated by the superior division of the oculomotor nerve, and whose primary function is the elevation of the globe. 2018-01-13T22:28:02Z - Abnormal superior rectus muscle physiology + Abnormal superior rectus muscle physiology @@ -496685,7 +497253,7 @@ A schwannoma (benign, usually encapsulated slow growing tumor composed of Schwann cells) located in the orbit. 2018-01-13T22:31:31Z - Orbital schwannoma + Orbital schwannoma @@ -496700,7 +497268,7 @@ Eyelid lag Lid lag von Graefe sign - Lid lag on downgaze + Lid lag on downgaze @@ -496718,7 +497286,7 @@ A functional anomaly of the medial rectus muscle, an extraocular muscle that is innervated by the inferior division of the oculomotor nerve and whose sole action is the adduction of the eyeball. 2018-01-13T22:41:09Z - Abnormal medial rectus muscle physiology + Abnormal medial rectus muscle physiology @@ -496736,7 +497304,7 @@ An inward turning (inversion) of the margin of the upper eyelid. 2018-01-13T22:44:13Z - Upper eyelid entropion + Upper eyelid entropion @@ -496755,7 +497323,7 @@ 2018-01-13T22:49:08Z Cicatricial ectropion may occur owing to burns, lacerations, or infection of the skin of the eyelid. - Cicatricial ectropion + Cicatricial ectropion @@ -496773,7 +497341,7 @@ A type of blepharitis that affects the eyelid skin, base of the eyelashes, and the eyelash follicles. 2018-01-13T22:52:54Z - Anterior blepharitis + Anterior blepharitis @@ -496793,7 +497361,7 @@ Meibomian gland dysfunction Meibomian gland disease - Posterior blepharitis + Posterior blepharitis @@ -496811,7 +497379,7 @@ A type of epicanthus in which more extensive epicanthal folds with their origins in the eyebrow cover, pass in front of and lateral to the medial canthus (middle corner of the eye). 2018-01-13T22:58:02Z - Epicanthus superciliaris + Epicanthus superciliaris @@ -496829,7 +497397,7 @@ A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea. 2018-01-13T23:06:10Z - Corneal astigmatism + Corneal astigmatism @@ -496852,7 +497420,7 @@ Focal affective seizure Partial emotional seizure Focal emotional seizures are characterized by alterations in mood or emotion, or the appearance of altered emotion without the subjective emotion, at seizure onset. These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer. Emotions include: fear/anxiety/panic, laughing (gelastic), crying (dacrystic), pleasure, anger. - Focal emotional seizure + Focal emotional seizure @@ -496871,7 +497439,7 @@ 2019-04-08T22:41:54Z - Abscess + Abscess @@ -496883,7 +497451,7 @@ An abscess not caused by infection with pyogenic bacteria. Operationally, a sterile abscess is inferred if investigations of an abscess fail to reveal evidence of pathogenic organisms. 2019-04-08T22:44:34Z - Sterile abscess + Sterile abscess @@ -496895,7 +497463,7 @@ An abnormal number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies. 2019-04-08T23:51:27Z - Abnormal plasma cell count + Abnormal plasma cell count @@ -496907,7 +497475,7 @@ An abnormally low number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies. 2019-04-08T23:52:54Z - Reduced plasma cell count + Reduced plasma cell count @@ -496919,7 +497487,7 @@ An abnormally high number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies. 2019-04-08T23:53:33Z - Elevated plasma cell count + Elevated plasma cell count @@ -497001,7 +497569,7 @@ 2019-04-08T23:55:32Z Abnormal proportion of central memory CD4+, alpha-beta T cells - Abnormal proportion of CD4+ central memory cells + Abnormal proportion of CD4+ central memory cells @@ -497011,7 +497579,7 @@ HP:0410393 This was a duplicate, hence it was obsoleted. https://github.com/obophenotype/human-phenotype-ontology/issues/5695 - obsolete Increased proportion of CD4+ central memory cells + obsolete Increased proportion of CD4+ central memory cells true @@ -497022,7 +497590,7 @@ HP:0410388 Term was a duplicate, hence it was obsoleted. https://github.com/obophenotype/human-phenotype-ontology/issues/5695 - obsolete Decreased proportion of CD4+ central memory cells + obsolete Decreased proportion of CD4+ central memory cells true @@ -497107,7 +497675,7 @@ HP:0410382 Abnormal proportion of CD4-positive effector memory cells Abnormal proportion of effector memory CD4-positive, alpha-beta T cells - Abnormal proportion of CD4+ effector memory cells + Abnormal proportion of CD4+ effector memory cells @@ -497198,7 +497766,7 @@ Decreased proportion of CD4+ effector memory T cells Decreased proportion of CD4-positive effector memory T cells Decreased proportion of effector memory CD4-positive, alpha-beta T cells - Reduced proportion of CD4+ effector memory T cells + Reduced proportion of CD4+ effector memory T cells @@ -497288,7 +497856,7 @@ Increased proportion of CD4+ effector memory T cells Increased proportion of CD4-positive effector memory T cells Increased proportion of effector CD4-positive, alpha-beta T cells - Elevated proportion of CD4+ effector memory T cells + Elevated proportion of CD4+ effector memory T cells @@ -497300,7 +497868,7 @@ An abnormally high concentration of oleic acid (oleate) in the blood circulation. 2019-04-09T00:25:28Z - Increased circulating oleate level + Increased circulating oleate level @@ -497319,7 +497887,7 @@ An abnormally high concentration of octadecanoate in the blood circulation. Octadecanoate is a fatty acid anion 18:0 that is the conjugate base of octadecanoic acid (stearic acid). 2019-04-09T00:28:58Z - Increased circulating octadecanoate level + Increased circulating octadecanoate level @@ -497331,7 +497899,7 @@ An abnormally high concentration of myristoleate in the blood circulation. 2019-04-09T00:31:41Z - Increased circulating myristoleate level + Increased circulating myristoleate level @@ -497344,7 +497912,7 @@ 2019-04-09T00:48:21Z The anti-myelin-associated glycoprotein (MAG) neuropathy is an antibody-mediated demyelinating neuropathy. The clinical picture is characterized by a distal and symmetric, mostly sensory neuropathy. Monoclonal immunoglobulin M anti-MAG antibodies are uniquely found in this condition and are believed to be pathogenic. - Anti-myelin-associated glycoprotein antibody positivity + Anti-myelin-associated glycoprotein antibody positivity @@ -497362,8 +497930,8 @@ Increased amount of argininosuccinate in the urine. 2019-04-09T00:55:15Z - Argininosuccinate lyase (ASL) belongs to the hepatic urea cycle detoxifying ammonia, and the citrulline-nitric oxide (NO) cycle producing NO. ASL-deficient patients present argininosuccinic aciduria characterised by hyperammonaemia, multiorgan disease and neurocognitive impairment. - Argininosuccinic aciduria + Argininosuccinate lyase (ASL) belongs to the hepatic urea cycle detoxifying ammonia, and the citrulline-nitric oxide (NO) cycle producing NO. ASL-deficient patients present argininosuccinic aciduria characterized by hyperammonaemia, multiorgan disease and neurocognitive impairment. + Argininosuccinic aciduria @@ -497382,7 +497950,7 @@ Increased amount of alpha-aminobutyric acid in the urine. 2019-04-09T01:21:25Z - Alpha-aminobutyric aciduria + Alpha-aminobutyric aciduria @@ -497401,7 +497969,7 @@ 2019-04-09T01:36:43Z Polymorphonuclear neutrophils comprise more than 60% ofthe circulating white blood cells in humans. They have a central role in innate immunity and they regulate adaptive immunity. In healthy individuals, circulating neutrophils are freely flowing in a resting, dormant state. Upon infection, neutrophils are the first circulating cells to arrive at the infection and inflammatory site. Phagocytosis triggers the activation program of the neutrophils, leading to the intraphagosomal release of antibacterial peptides, proteases, myeloperoxidase, and superoxide anion (O2-), which is produced via the activation of the NADPH oxidase. Superoxide anion is the initiating spark leading to the generation of reactive oxygen species (ROS), i.e., hydrogen peroxide (H2O2), hydroxylradical and hypochlorous acid (HOCl), all contributing to the death and destruction of the bacteria within the phagosome. ROS production by the phagocytes was first referred as the respiratory burst or oxidative burst due to the rapid and cyanide-insensitive increase in oxygen uptake, increase in glucose consumption, andimmediate ROS release. The enzyme system dedicated to superoxide anion production, i.e., the phagocyte NADPH oxidase, a member of the NOX family of proteins also referred as NOX2, is composed of six proteins, two trans-membrane proteins (p22phox and gp91phox) that form theflavocytochrome b558, and four soluble proteins (p47phox,p67phox, and p40phox and the small G-proteins, Rac1/2). - Reduced reactive oxygen species production in neutrophils + Reduced reactive oxygen species production in neutrophils @@ -497459,7 +498027,7 @@ A structural abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. 2019-04-26T17:40:47Z - Abnormal ureter morphology + Abnormal ureter morphology @@ -497511,7 +498079,7 @@ A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. 2019-04-26T17:43:08Z - Abnormal ureter physiology + Abnormal ureter physiology @@ -497526,7 +498094,7 @@ NCIT:C4530 Polyp of the ureter Ureter polyp - Ureteral polyp + Ureteral polyp @@ -497546,7 +498114,7 @@ Endometrial inflammation Inflammation of the inner lining of the uterus - Endometritis + Endometritis @@ -497568,7 +498136,7 @@ Angiospasm Blood vessel spasm Vascular spasm - Vasospasm + Vasospasm @@ -497588,7 +498156,7 @@ 2019-04-26T18:06:25Z Butyrylglycine is a N-acylglycine obtained by formal condensation of the carboxy group of butyric acid with the amino group of glycine. Its urinary excretion is increased in certain inborn errors of metabolism. - Elevated urinary N-butyrylglycine + Elevated urinary N-butyrylglycine @@ -497606,7 +498174,7 @@ An abnormally elevated amount of zinc in the urine, typically as assessed by a 24 hour urine collection. 2019-04-26T18:12:28Z - Increased urinary zinc level + Increased urinary zinc level @@ -497618,7 +498186,7 @@ An abnormal concentration or amount of a mineral in the urine. Medically relevant minerals include calcium, phosphorus, potassium, sodium, chloride, magnesium, iron, zinc, iodine, chromium, copper, fluoride, molybdenum, manganese, and selenium. 2019-04-26T18:13:40Z - Abnormal urinary mineral level + Abnormal urinary mineral level @@ -497626,12 +498194,72 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + The concentration of glycolate in the blood circulation is above the upper limit of normal. 2019-04-26T18:31:31Z Glycolate is a hydroxy monocarboxylic acid anion that is acetate in which the methyl group has been hydroxylated. - Elevated circulating glycolate concentration + Elevated circulating glycolate concentration @@ -497651,7 +498279,7 @@ 2019-07-24T09:26:34Z Perineural cyst - Tarlov cyst + Tarlov cyst @@ -497670,7 +498298,7 @@ Fixation-off sensitivity FOS occurs mainly in children who have non-acquired focal epilepsies with occipital epileptiform discharges and in people with generalized epilepsies with photosensitivity such as eyelid myoclonia with absences. It has been observed in people with epilepsies due to structural brain lesions and people without epilepsy who have posterior epileptiform discharges. - Fixation-off epileptiform discharges + Fixation-off epileptiform discharges @@ -497690,7 +498318,7 @@ Polymicrogyria that affects all or some of both cerebral hemispheres. Bilateral polymicrogyria is not always generalized or perisylvian. - Bilateral polymicrogyria + Bilateral polymicrogyria @@ -497708,7 +498336,7 @@ A type of nephrotic syndrome in which complete remission (albumin urine dipstick negative/trace or proteinuria <4mg/m2/d or urinary protein to creatinine ratio <200mg/g (<20 mg/mmol) for 3 consecutive days) is achieved within initial 4 weeks of corticosteroid therapy. SSNS - Steroid-sensitive nephrotic syndrome + Steroid-sensitive nephrotic syndrome @@ -497733,7 +498361,7 @@ A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of one relapse (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response, or one to three relapses in any 12-month period. No biopsy needed. Relapses are treated with steroids according to local protocols. - Steroid-sensitive nephrotic syndrome with infrequent relapses + Steroid-sensitive nephrotic syndrome with infrequent relapses @@ -497752,7 +498380,7 @@ A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of two or more relapses (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response or four or more relapses in any 12-month period. Biopsy is necessary to determine underlying histology. Treatment with levamisole or immunosuppression (e.g. calcineurin inhibitors, cyclophosphamide or mycophenolat mofetil) in order to reduce steroid toxicity. - Steroid-sensitive nephrotic syndrome with frequent relapses + Steroid-sensitive nephrotic syndrome with frequent relapses @@ -497772,7 +498400,7 @@ SDNS Biopsy is necessary to determine underlying histology. Treatment with levamisole or immunosuppression (e.g. calcineurin inhibitors, cyclophosphamide or mycophenolat mofetil) in order to reduce steroid toxicity. - Steroid-dependent nephrotic syndrome + Steroid-dependent nephrotic syndrome @@ -497796,7 +498424,7 @@ Abnormal placental adhesion is characterized by an anomalous adherence of the placenta to the uterine wall. Based on the degree of adhesion, placental invasion can be classified into accreta, increta, or percreta. - Abnormal placental adhesion into the uterine wall + Abnormal placental adhesion into the uterine wall @@ -497814,7 +498442,7 @@ Placenta percreta is a rare form of morbidly adherent placenta with penetration through the myometrium reaching serosa and even adjacent pelvic organs. Abnormal placental pentration beyond the uterine wall - Placenta percreta + Placenta percreta @@ -497831,7 +498459,7 @@ Abnormally firm adherence of the placenta to the uterine wall. - Placenta accreta + Placenta accreta @@ -497848,7 +498476,7 @@ Abnormal placental pentration into but not beyond the uterine wall. - Placenta increta + Placenta increta @@ -497859,7 +498487,7 @@ Sonographic detection of a double bubble sign in the upper abdomen is strongly indicative of duodenal obstruction. One bubble represents fetal stomach, and the other is attributed to a dilated proximal part of the duodenum; continuity between both bubbles is required for the sign. - Prenatal double bubble sign + Prenatal double bubble sign @@ -497876,7 +498504,7 @@ - Abnormal umbilical blood flow measurement + Abnormal umbilical blood flow measurement @@ -497886,7 +498514,7 @@ HP:0025715 - obsolete Abnormal umbilical artery Doppler pattern in pregnancy + obsolete Abnormal umbilical artery Doppler pattern in pregnancy true @@ -497898,7 +498526,7 @@ A reduction in the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. - Decreased circulating creatine kinase concentration + Decreased circulating creatine kinase concentration @@ -497918,7 +498546,7 @@ Arnold-Chiari type II malformation While Chiari I malformation is thought to result from a small posterior fossa, Chiari II occurs due to in utero malformation of the spine and cranial structures. The underlying cause of Chiari II malformation is thought to be an in utero CSF leak due to open spinal dysraphism, resulting in a small posterior fossa with distortion of the cerebellum and a diminutive cisterna magna, sometimes accompanied by ventriculomegaly and an altered shape of the calvarium. Chiari II malformation is always associated with spinal myelomeningocele or myelocele. Classical signs described on prenatal ultrasound include lemon sign and banana cerebellum sign. - Chiari type II malformation + Chiari type II malformation @@ -497937,7 +498565,7 @@ A type of Chiari malformation that involves herniation of the hindbrain (cerebellum with or without the brainstem) into a low occipital or high cervical meningoencephalocele. Arnold-Chiari type III malformation - Chiari type III malformation + Chiari type III malformation @@ -497955,7 +498583,7 @@ An anomalous structural finding of the fetal skeleton. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other terms from the skeletal hierarchy can also be used to describe fetal phenotypes. - Abnormal fetal skeletal morphology + Abnormal fetal skeletal morphology @@ -497966,7 +498594,7 @@ This ratio relates the length of the fetal femur to that of the fetal foot. The ratio is approximately 1 throughout the age range of 14 to 40 weeks of gestation. A substantial reduction in the raio can help differentiate fetuses that have dysplastic limb reduction from those whose limbs are short because of constitutional factors or IUGR. It can reduce the problem of an unknown gestational age and help to distinguish between fetal skeletal dysplasia and intrauterine growth retardation caused by other factors. - Reduced fetal femur/foot length ratio + Reduced fetal femur/foot length ratio @@ -497985,7 +498613,7 @@ Birth at 32 to 36 completed weeks of gestation. World Health Organization definition. - Moderate to late preterm birth + Moderate to late preterm birth @@ -498002,7 +498630,7 @@ Birth before 28 completed weeks of gestation (up to and including 27 weeks and 6 days of gestation). - Extremely preterm birth + Extremely preterm birth @@ -498019,7 +498647,7 @@ Birth before 32 completed weeks of gestation (28 up to but not including 32 weeks). - Very preterm birth + Very preterm birth @@ -498038,7 +498666,7 @@ A structural anomaly in the fetal neck region. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. - Fetal neck anomaly + Fetal neck anomaly @@ -498049,7 +498677,7 @@ Any structural anomaly of the neck region. - Abnormal neck morphology + Abnormal neck morphology @@ -498060,7 +498688,7 @@ Any functional anomaly of the neck region. - Abnormal neck physiology + Abnormal neck physiology @@ -498072,7 +498700,7 @@ Syntelencephaly is a rare malformation that consists of an abnormal midline connection of the cerebral hemispheres in the posterior frontal and parietal regions, with interhemispheric separation of the basal forebrain, anterior frontal lobes, and occipital regions. This condition differs from holoprosencephaly (HPE) in that the midline fusion in syntelencephaly is complete but segmental, while the structural brain anomalies seen in the HPE spectrum progress smoothly in severity in a posterior to anterior fusion. - Syntelencephaly + Syntelencephaly @@ -498090,7 +498718,7 @@ An abnormal accumulation of fluid in which the heart is partially or completely surrounded by fluid that is seen in all views and the thickness of the fluid as observed by prenatal ultrasound is above age-dependent norms. Fetal pericardial effusion appears in conditions such as hydrops fetalis, heart structural or rhythm alterations, however, it can also be observed in isolation. - Fetal pericardial effusion + Fetal pericardial effusion @@ -498109,7 +498737,7 @@ A separation of skin in one or more regions of the body or even along the entire length of body wall (to a degree greater than gestational-age related norms) related to pathologically increased fluid accumulation in the subcutaneous tissue. In first trimester ultrasound examination generalized skin edema is often the first feature of hydrops fetalis. - Fetal skin edema + Fetal skin edema @@ -498127,7 +498755,7 @@ A type of ascites (peritoneal fluid collection) that is divided into loculi (compartments) by septa (fibrous walls). Ascites fluid can become loculated when confined by adhesions, malignancy or infection. Septated ascites - Loculated ascites + Loculated ascites @@ -498146,7 +498774,7 @@ A meconium-containing cyst in the peritoneal space . Meconium pseudocysts form in the presence of meconium peritonitis, which is defined as a sterile peritonitis caused by escape of meconium from the intestinal tract into the general peritoneal cavity during the fetal or perinatal period. When the extruded meconium becomes walled off, it can form a rim-calcified mass representing the meconium pseudocyst. A fetal intraperitoneal cystic mass that shows high T1 and low T2 signals in prenatal magnetic resonance imaging is considered pathognomonic of meconium pseudocyst. See Figure 1 of PMID: 19293041. - Meconium pseudocyst + Meconium pseudocyst @@ -498174,7 +498802,7 @@ Idiopathic constriction of the fetal ductus arteriosus Idiopathic constriction of the foetal ductus arteriosus PCDA - Premature closure of the ductus arteriosus + Premature closure of the ductus arteriosus @@ -498228,7 +498856,7 @@ Fetal pleural effusion is the accumulation of excess fluid in the layers of tissue (pleura) lining the lungs and wall of the chest. It may be primary, also termed hydrothorax, occurring as an isolated finding or it may be secondary, most commonly resulting from non-immune hydrops. With the ongoing evolution and more widespread use of obstetric ultrasound, fetal pleural effusions are being recognized more often and at earlier gestational ages. - Fetal pleural effusion + Fetal pleural effusion @@ -498246,7 +498874,7 @@ The presence of chyle (a type of lipid-rich lymph) in the pleural space (the space surrounding the lung) as observed in a fetus. Fetal chylothorax is associated with a high mortality rate. The most serious consequences of fetal chylothorax are pulmonary hypoplasia, congestive heart failure, and hydrops. It may occur as an isolated disorder or as a feature of diseases such as trisomy 21, Turner syndrome, and Noonan syndrome. Chylous pleural effusion impairs normal development of fetal lungs by pressure effects and can lead to pulmonary hypoplasia, mediastinal shift, and impaired circulation. - Fetal chylothorax + Fetal chylothorax @@ -498264,7 +498892,7 @@ Accumulation of lymphatic fluid in the pleural space. This finding is usually observed by prenatal sonography. Once neonatal feeding is established and the lymphatic fluid contains chyle, transformation to chylothorax may be observed. - Fetal hydrothorax + Fetal hydrothorax @@ -498279,15 +498907,15 @@ - Inflammation of an intervertebral disc or disk space. + Inflammation of an intervertebral disk or disk space. Discitis - Diskitis + Diskitis - Inflammation of an intervertebral disc or disk space. + Inflammation of an intervertebral disk or disk space. PMID:31082091 @@ -498300,7 +498928,7 @@ Compound muscle action potential amplitude (CMAP) facilitation denotes an increase in tendon reflexes, strength, or CMAP amplitude after 10 seconds of maximal voluntary contraction. CMAP facilitation - Compound muscle action potential amplitude facilitation + Compound muscle action potential amplitude facilitation @@ -498323,7 +498951,7 @@ Abnormally reduced diameter (cross section) of the clavicles that is limited to the distal region. - Distal clavicular thinning + Distal clavicular thinning @@ -498335,7 +498963,7 @@ A gait disturbance that is characterized by excessive ankle dorsiflexion, knee and hip flexion during the stance phase. Crouch gait may be observed in individuals affected by cerebral palsy. - Crouch gait + Crouch gait @@ -498355,7 +498983,7 @@ Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta42, which is 42 amino acids in length, is the longer form. The amyloid cascade hypothesis has been the prevailing paradigm for understanding Alzheimer's disease (AD) pathogenesis. According to this hypothesis, the fibrillogenic 42-amino acid beta amyloid peptide (Abeta42) aggregates into toxic beta-sheet rich assemblies, triggering a cascade of neurotoxic events, including intracellular tau accumulation as neurofibrillary tangles and neuroinflammation, which ultimately result in neurodegeneration and subsequent cognitive impairment. - Abnormal amyloid beta 42 peptide CSF concentration + Abnormal amyloid beta 42 peptide CSF concentration @@ -498373,7 +499001,7 @@ A reduction from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). - Decreased amyloid beta 42 peptide CSF concentration + Decreased amyloid beta 42 peptide CSF concentration @@ -498392,7 +499020,7 @@ An elevation above the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). - Increased amyloid beta 42 peptide CSF concentration + Increased amyloid beta 42 peptide CSF concentration @@ -498411,7 +499039,7 @@ Abnormal Abeta 40 level Abnormal beta amyloid 40 level - Abnormal amyloid beta 40 peptide CSF concentration + Abnormal amyloid beta 40 peptide CSF concentration @@ -498429,7 +499057,7 @@ An elevation above the normal concentration of amyloid beta 40 peptide in the cerebrospinal fluid (CSF). - Increased amyloid beta 40 peptide CSF concentration + Increased amyloid beta 40 peptide CSF concentration @@ -498447,7 +499075,7 @@ Any anomaly in the concentration of a cleaved APP amyloid beta protein fragment in the cerebrospinal fluid. - Abnormal amyloid beta peptide CSF concentration + Abnormal amyloid beta peptide CSF concentration @@ -498466,7 +499094,7 @@ Focal dilatation of the extra-abdominal portion of the umbilical vein. An extra-abdominal umbilical varix is difficult to diagnose prenatally as it can appear like a cyst on ultrasound prior to birth. Intra-abdominal umbilical vein varix is defined to be 9 mm or greater in diameter or alternatively to have a diameter that is 50 percent wider than that of the intrahepatic umbilical vein. - Extra-abdominal umbilical vein varix + Extra-abdominal umbilical vein varix @@ -498486,7 +499114,7 @@ FIUVV Fetal umbilical vein dilatation Foetal umbilical vein dilatation - Fetal intra-abdominal umbilical vein varix + Fetal intra-abdominal umbilical vein varix @@ -498516,7 +499144,7 @@ Impaired fasting glucose (IFG) is indicated by a fasting plasma glucose above normal but below the diabetic range. Levels between 110 mg/dl (6.1 mmol/l) to 125 mg/dl (6.9 mmol/l) are diagnostic of IFG. - Impaired fasting glucose + Impaired fasting glucose @@ -498536,7 +499164,7 @@ A defect of development of the brain characterized by absence of the telencephalon (embryonic structure from which the mature cerebrum develops). Atelencephaly can be differentiated from anencephaly by the presence of a skull and an intact scalp. Aprosencephaly is characterized by absence of the telencephalon and diencephalon (embryonic structure from which the thalamus develops). Atelencephaly is generally fatal. - Atelencephaly + Atelencephaly @@ -498555,7 +499183,7 @@ Pituitary gland macroadenoma Pituitary macroadenoma presents with mass effects and potentially hormonal deficiency or hormonal excess. - Pituitary macroadenoma + Pituitary macroadenoma @@ -498573,7 +499201,7 @@ A pituitary adenoma that is less than 10 mm in diameter. Pituitary microadenoma is usually an incidental finding on brain MRI. Patients are asymptomatic unless the tumor is hormonally active. - Pituitary microadenoma + Pituitary microadenoma @@ -498590,7 +499218,7 @@ Mucus that is abnormally thick in consistency (ie, inspissated) and plugs the airway is known as a mucus plug. Mucus plugs consist of mucins and cells and can partially or completely obstruct one or more airways and cause serious consequences, including atelectasis and recurrent infection. - Mucus plug + Mucus plug @@ -498602,7 +499230,7 @@ A replicate of airways from accumulated and condensed mucous and cellular material. These semisolid occlusions take the shape of the airway within they are formed, leading to obstruction of the tracheobronchial tree with consecutive respiratory insufficiency. Based on their principal composition, one can differentiate fibrin casts and mucin casts. Plastic bronchitis is the name of the condition characterized by the formation of airway casts. Casts are frequently (4-16%) observed in patients with congenital heart disease who have undergone Fontan palliation. Casts are infrequently observed in sickle cell disease-and acute chest syndrome, airway infections, in particular H1N1 influenza, severe asthma, or after smoke/chemical inhalation injuries. - Airway casts + Airway casts @@ -498624,7 +499252,7 @@ Diphtheroid membranes Pseudomembranes Type I airway casts - Fibrin casts + Fibrin casts @@ -498643,7 +499271,7 @@ Acellular airway casts Type II airway casts - Mucin casts + Mucin casts @@ -498661,7 +499289,7 @@ 18F-fluorodeoxyglucose (FDG) positron emission tomography and computed tomography (FDG-PET/CT) evaluates the glucose metabolism of the brain. FDG uptake is interpreted to represent glycolysis. This term therefore represents an abnormally increased FDG uptake (increased glucose metabolism) in the region of the brain that surrounds the Sylvian fissure. Perisylvian hypermetabolism in FDG PET - Perisylvian FDG hypermetabolism + Perisylvian FDG hypermetabolism @@ -498678,7 +499306,7 @@ A complete or near-complete lack of amniotic fluid surrounding a fetus. This finding can be observed sonographically in the third trimesters if the deepest pocket of amniotic fluid is less than or equal to 2 cm. - Anhydramnios + Anhydramnios @@ -498696,7 +499324,7 @@ The jugular lymphatic sacs (JLS) are a physiological and temporary part of fetal lymphatic development. They are formed from small buds of lymphatic endothelial cells arising from the internal jugular veins. By 14 weeks gestation they have developed into lymphatic nodes which drain into the systemic circulation. Visibility of JLS on ultrasound past 14 weeks of gestation implies distension and this may be associated with raised nuchal translucency. Distended jugular lymphatic sacs (JLS) may pre-date or accompany raised nuchal translucency or cystic hygroma and are associated with the same range of disorders. These are largely chromosomal aneuploidies or significant copy number variation. Current evidence suggests distended JLS in the absence of raised nuchal translucency are likely to be normal variation. - Distended jugular lymphatic sacs + Distended jugular lymphatic sacs @@ -498714,15 +499342,15 @@ - A type of Schizencephaly in which there is a trans-mantle column of abnormal grey matter but no evidence of a CSF-containing cleft on MR imaging. + A type of Schizencephaly in which there is a trans-mantle column of abnormal gray matter but no evidence of a CSF-containing cleft on MR imaging. Trans-mantle schizencephaly - Type 1 schizencephaly + Type 1 schizencephaly - A type of Schizencephaly in which there is a trans-mantle column of abnormal grey matter but no evidence of a CSF-containing cleft on MR imaging. + A type of Schizencephaly in which there is a trans-mantle column of abnormal gray matter but no evidence of a CSF-containing cleft on MR imaging. PMID:30027296 PMID:3111205 @@ -498733,15 +499361,15 @@ - A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal grey matter that are opposed to each other. + A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal gray matter that are opposed to each other. This is a milder form of schizecephaly that can be asymptomatic or diagnosed in adult patients. - Type 2 schizencephaly + Type 2 schizencephaly - A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal grey matter that are opposed to each other. + A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal gray matter that are opposed to each other. PMID:30027296 @@ -498751,15 +499379,15 @@ - A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal grey matter. + A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal gray matter. This is a severe form of schizencephaly that can manifest by refractory epilepsy, intellectual disability, varying degrees of paralysis from hemiparesis to quadriparesis. - Type 3 schizencephaly + Type 3 schizencephaly - A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal grey matter. + A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal gray matter. PMID:30027296 @@ -498771,7 +499399,7 @@ Abnormal appearance or non-visualization (apparent absence) of the nasal bone of a fetus in first trimester sonographic screening. Assessment of the fetal nasal bone is generally performed at 11-14 weeks gestational age. - Abnormal fetal nasal bone visualization + Abnormal fetal nasal bone visualization @@ -498792,7 +499420,7 @@ Absence of foetal nasal bone Unossified nasal bone See Figure 1 of PMID:23324624. - Absent fetal nasal bone + Absent fetal nasal bone @@ -498817,7 +499445,7 @@ Length of the nasal bone below a predetermined cut-off as seen on antenatal ultrasound using standard imaging techniques. Different studies have used different cut-offs to assess the length of nasal bone. Most data supports use of gestation and ethnicity specific centiles or MoMs. Hypoplastic nasal bone on antenatal ultrasound is one of the soft markers for Down syndrome. This marker can be used to adjust a-priori risk for Down syndrome and offer options for further diagnostic testing to the pregnant woman. Hypoplastic nasal bone can also rarely be a marker for submicroscopic copy number abnormalities and single gene disorders in the fetus. - Hypoplastic nasal bone + Hypoplastic nasal bone @@ -498829,7 +499457,7 @@ Onset of disease at an age of greater than or equal to 16 to under 19 years. This term includes the full 16th year of age up to the completed 18th year of age (i.e., less than the 19th birthday). - Early young adult onset + Early young adult onset @@ -498841,7 +499469,7 @@ Onset of disease at an age of greater than or equal to 19 to under 25 years. This term includes the full 19th year of age up to the completed 25th year of age (i.e., less than the 25th birthday). - Intermediate young adult onset + Intermediate young adult onset @@ -498853,7 +499481,7 @@ Onset of disease at an age of greater than or equal to 25 to under 40 years. This term includes the full 25th year of age up to the completed 40th year of age (i.e., less than the 40th birthday). - Late young adult onset + Late young adult onset @@ -498865,7 +499493,7 @@ Convergence-retraction nystagmus is an irregular, jerky nystagmus in which both eyeballs rhythmically converge and retract into the orbit, particularly on attempting an upward gaze. Convergence retraction nystagmus - Convergence-retraction nystagmus + Convergence-retraction nystagmus @@ -498884,7 +499512,7 @@ Amnion-chorion separation The separation of the chorion and amnion before 14 weeks' of gestation is physiologically normal. The amnion and chorion usually fuse between 14 and 16 weeks, and any chorioamniotic separation (CAS) that persists after 16 weeks is uncommon and anomalous. CAS can occur spontaneously or after an intrauterine intervention such as amniocentesis, fetal blood sampling, or fetal surgery. - Spontaneous chorioamniotic separation + Spontaneous chorioamniotic separation @@ -498903,7 +499531,7 @@ Dystrophic neurite Dystrophic neurites occur around neuritic plaques in the brains of subjects with Alzheimer's disease and various other neurological conditions. - Neurite dystrophy + Neurite dystrophy @@ -498922,7 +499550,7 @@ An infarct located on the outer layer of the cerebrum that can only be observed microscopically. Cerebral microinfarcts are typically defined as sharply delimited microscopic regions of cellular death or tissue necrosis, sometimes with cavitation (that is, a central fluid-filled cavity). The term microscopic denotes that these lesions are not visible by gross inspection of the brain but seen by light microscopy. The term infarct is most commonly used for ischemia-related tissue loss, and indeed the pathologic appearance of microinfarcts is consistent with that of known ischemic infarctions. See figure 1 of PMID:10867785. - Cerebral cortical microinfarct + Cerebral cortical microinfarct @@ -498941,7 +499569,7 @@ Abnormal waveforms the Doppler sonographic examination of bloodflow in the umbilical artery. vUmbilical arterial Doppler assessment is used in surveillance of fetal health in the third trimester. HP:0025658 - Abnormal umbilical artery doppler waveform during pregnancy + Abnormal umbilical artery doppler waveform during pregnancy @@ -498959,7 +499587,7 @@ Low hemoglobin/hematocrit in a fetus as evidenced by percutaneous umbilical cord sampling and Doppler ultrasonographic assessment of the peak velocity of systolic blood flow in the middle cerebral artery. Fetal anemia has been known for many years as a dangerous complication of pregnancy. Its most common causes are maternal alloimmunization and parvovirus B19 infection, although it can be associated with many different pathological conditions including fetal aneuploidies, vascular tumors, and arteriovenous malformations of the fetus or placenta and inherited conditions such as alpha-thalassemia or genetic metabolic disorders. Doppler ultrasonographic assessment of the peak velocity of systolic blood flow in the middle cerebral artery for the diagnosis of fetal anemia and intravascular intrauterine transfusion for its treatment are the current practice standards. - Fetal anemia + Fetal anemia @@ -498979,7 +499607,7 @@ Autophagic material in muscle biopsy Autophagy (self-eating) is a process of lysosomal degradation of long-lived proteins and damaged organelles. In macroautophagy (hereafter referred to as autophagy), double-membrane vesicles known as autophagosomes sequester cytoplasm and damaged organelles. The autophagosomes fuse with endosomes, giving rise to amphisomes, followed by fusion with lysosomes where degradation of autophagosomal contents is completed. Autophagy is a critical survival mechanism under conditions of nutrient deprivation and appears to play a role in basal protein turnover as well. Under normal conditions, autophagosomes and amphisomes are quickly degraded by lysosomes, and their content is recycled. In certain pathological states, significant accumulation of autophagosomes is observed. - Skeletal muscle autophagosome accumulation + Skeletal muscle autophagosome accumulation @@ -498998,7 +499626,7 @@ Hyperechoic muscle Muscle ultrasound hyperechogenicity - Skeletal muscle hyperechogenicity + Skeletal muscle hyperechogenicity @@ -499016,7 +499644,7 @@ Gross findings of maternal vascular malperfusion include placental hypoplasia, placental infarction, and retroplacental hemorrhage. If information is available, it is preferable to annotate using the HPO terms that corresponding to the specific abnormalities. Maternal vascular malperfusion (MVM) of the placental bed represents a recognizable pattern of placental injury related to altered uterine and intervillous blood flow. MVM consists of a constellation of placental pathologic findings seen in the maternal decidual vessels, reflecting abnormal spiral artery remodeling, as well as in the villous parenchyma, reflecting abnormalities in oxygenation and flow dynamics in the intervillous space. - Maternal vascular malperfusion + Maternal vascular malperfusion @@ -499033,7 +499661,7 @@ Limited mobility of the eye to move from side to side (horizontally) within its socket. - Limited horizontal extraocular movement + Limited horizontal extraocular movement @@ -499050,7 +499678,7 @@ Limited mobility of the eye to move up and down (vertically) within its socket. - Limited vertical extraocular movement + Limited vertical extraocular movement @@ -499067,7 +499695,7 @@ A necrotic lesion in the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors. - Cerebral infarct + Cerebral infarct @@ -499085,7 +499713,7 @@ Any structural anomaly of the skin of the fetus or newborn. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. - Abnormal fetal skin morphology + Abnormal fetal skin morphology @@ -499097,7 +499725,7 @@ Vernix caseosa is a physiological, viscous biofilm that is produced by desquamated fetal skin and sebaceous glands covering the fetus at the third trimester in-utero. The substance's gross morphology in post-partum is described by the etymology, as vernix means varnish, and caseosa means cheesy-like matter. This finding refers to an abnormally thick and greasy vernix caseosa-like scale present at birth. Greasy, thick vernix caseosa-like scale - Caseous vernix-like desquamation + Caseous vernix-like desquamation @@ -499114,7 +499742,7 @@ A type of congenital pulmonary airway malformation that is characterized by multiple large cysts or a single dominant cyst. - Type 1 congenital pulmonary airway malformation + Type 1 congenital pulmonary airway malformation @@ -499131,7 +499759,7 @@ A type of congenital pulmonary airway malformation that is characterized by multiple evenly spaced cysts (sponge-like appearance). - Type 2 congenital pulmonary airway malformation + Type 2 congenital pulmonary airway malformation @@ -499148,7 +499776,7 @@ A type of congenital pulmonary airway malformation that is characterized by a bulky firm mass with an adenomatoid appearance. - Type 3 congenital pulmonary airway malformation + Type 3 congenital pulmonary airway malformation @@ -499166,7 +499794,7 @@ Pseudocysts that lack an epithelial lining, PVPCs are frequently observed in the caudothalamic groove or in the infero-lateral aspect of the frontal horns of the lateral ventricles, but may also be located elsewhere along the periventricular germinal matrix, as in the temporal or occipital horns. Previously, periventricular leukomalacia and periventricular pseudocysts (PVPC) have been confused. PVPC are found below the external angle of the lateral ventricles whereas periventricular leukomalacia is located above it and has a different prognosis. - Periventricular pseudocyst + Periventricular pseudocyst @@ -499185,7 +499813,7 @@ The term fetal vascular malperfusion (FVM) is used to describe placental pathology that is throught to result from an obstruction in fetal blood flow that could result from a number of conditions (eg, umbilical cord lesions, hypercoagulability, complications of fetal cardiac dysfunction, such as hypoxia, etc.). Findings consistent with FVM are thrombosis, segmental avascular villi, and villous stromal-vascular karyorrhexis. Other possible markers include vascular intramural fibrin deposition, stem vessel obliteration/fibromuscular sclerosis, and vascular ectasia. If data are available it is preferable to annotate the individual phenotypic features with specific HPO terms. - Fetal vascular malperfusion + Fetal vascular malperfusion @@ -499206,7 +499834,7 @@ Foetal atrial septal dilatation Redundant septum primum flap The reported incidence of foramen ovale aneurysm (FOA) in preterm and term infants is 11.1% and 7.1%, respectively. Postnatally, most atrial septal aneurysms resolve spontaneously as the pressure in the left atrium increases and compresses the septum against the foramen ovale. However, atrial septal aneurysms may be associated with other cardiac anomalies including atrial septum defect, patent foramen ovale, and mitral valve prolapse. In the absence of other cardiac anomalies or arrhythmia, the prognosis for FOA is excellent. See figure 7 of PMID:30601441. - Foramen ovale aneurysm + Foramen ovale aneurysm @@ -501300,7 +501928,7 @@ SNOMEDCT_US:39005004 SNOMEDCT_US:715903004 UMLS:C0334596 - Medulloepithelioma is a rare primitive neuroectodermal tumor of the central nervous system usually developing in childhood, displaying highly malignant behaviour, with early progression or recurrence. + Medulloepithelioma is a rare primitive neuroectodermal tumor of the central nervous system usually developing in childhood, displaying highly malignant behavior, with early progression or recurrence. Medulloepithelioma @@ -503692,7 +504320,7 @@ SNOMEDCT_US:25345001 UMLS:C0156215 Gall bladder perforation - Clinical presentation of a ruptured gallbladder can range from an acute generalised peritonitis to benign non-specific abdominal symptom. Gallbladder perforation is a rare but life-threatening complication of acute cholecystitis, with a reported mortality rate of 12 to 42 percent. The bile leak from a ruptured gallbladder might be contained in the extra peritoneal gallbladder fossa, and hence might not produce symptoms of peritonitis immediately. + Clinical presentation of a ruptured gallbladder can range from an acute generalized peritonitis to benign non-specific abdominal symptom. Gallbladder perforation is a rare but life-threatening complication of acute cholecystitis, with a reported mortality rate of 12 to 42 percent. The bile leak from a ruptured gallbladder might be contained in the extra peritoneal gallbladder fossa, and hence might not produce symptoms of peritonitis immediately. Gallbladder perforation @@ -506796,7 +507424,8 @@ An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme. UMLS:C4022545 - Abnormal erythrocyte enzyme level + Abnormal erythrocyte enzyme level + Abnormal erythrocyte enzyme concentration or activity @@ -507307,15 +507936,15 @@ - + - + Lack of ossification of the sacrum. UMLS:C2675562 Absence of sacrum ossification Unossified sacrum - + @@ -507346,7 +507975,7 @@ - + @@ -507614,7 +508243,8 @@ An anomaly of the metaphysis of the distal femur (close to the knee). UMLS:C4022527 Abnormality of wide portion of outermost thighbone - Distal femoral metaphyseal abnormality + Distal femoral metaphyseal abnormality + Abnormal distal femoral metaphysis morphology @@ -508229,14 +508859,14 @@ - An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space. + An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disk space. UMLS:C4022513 Increased intervertebral space - An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space. + An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disk space. @@ -509335,25 +509965,17 @@ - - Abnormal levels of interferon in the blood. - UMLS:C4072898 - Abnormal serum interferon level - Abnormal circulating interferon concentration + HP:0011116 + obsolete Abnormal circulating interferon concentration + true - - - - Abnormal levels of interferon in the blood. - PMID:28487810 - - + Abnormal levels of interferon gamma measured in the blood circulation. UMLS:C4072899 Abnormal serum interferon-gamma level @@ -512594,7 +513216,7 @@ SNOMEDCT_US:253802003 SNOMEDCT_US:27970007 UMLS:C0025467 - A mesenteric cyst is defined as any cyst located in the mesentery; it may or may not extend into the retroperitoneum, which has a recognizable lining of endothelium or mesothelial cell. Mesenteric cyst can occur anywhere in the mesentery of gastrointestinal tract from duodenum to rectum. Mesenteric cysts can be simple or multiple, unilocular or multilocular, and they may contain hemorrhagic, serous, chylous, or infected fluid. They can range in size from a few millimetres to few cm in diameter, however, at times may be so large that it may mimic tubercular ascites. + A mesenteric cyst is defined as any cyst located in the mesentery; it may or may not extend into the retroperitoneum, which has a recognizable lining of endothelium or mesothelial cell. Mesenteric cyst can occur anywhere in the mesentery of gastrointestinal tract from duodenum to rectum. Mesenteric cysts can be simple or multiple, unilocular or multilocular, and they may contain hemorrhagic, serous, chylous, or infected fluid. They can range in size from a few millimeters to few cm in diameter, however, at times may be so large that it may mimic tubercular ascites. Mesenteric cyst @@ -513186,7 +513808,7 @@ - Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. + Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fiber layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. UMLS:C4072985 Cotton-wool spots (CWSs) are common retinal manifestations of many diseases including diabetes mellitus, systemic hypertension, and acquired immunodeficiency syndrome. Macular cotton wool spot @@ -513194,7 +513816,7 @@ - Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. + Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fiber layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. PMID:6169833 @@ -514775,7 +515397,7 @@ - Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia. + Retinal phenotype characterized by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, color vision abnormalities, nystagmus and photophobia. UMLS:C0543968 Cone dysfunction Cone dysfunction syndrome @@ -514784,7 +515406,7 @@ - Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia. + Retinal phenotype characterized by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, color vision abnormalities, nystagmus and photophobia. @@ -515194,7 +515816,7 @@ - Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus. + Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibers predominate pulling upwards the umbilicus. SNOMEDCT_US:61282003 UMLS:C0231616 @@ -515204,7 +515826,7 @@ - Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus. + Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibers predominate pulling upwards the umbilicus. PMID:2146943 @@ -515652,7 +516274,7 @@ - Any structural anomaly of the heart and great vessels. + Any structural anomaly of the heart and blood vessels. HP:0001632 HP:0002564 HP:0002565 @@ -516238,6 +516860,12 @@ Brain tumour Brain neoplasm + + + + Brain tumour + + @@ -516259,6 +516887,12 @@ This represents a group of related tumors ranging from the relatively benign to the highly malignant. Supratentorial neoplasm + + + + Pineal parenchymal tumour + + @@ -516506,7 +517140,7 @@ - A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis. + A developmental anomaly characterized by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis. SNOMEDCT_US:50513008 UMLS:C0265776 Congenital bronchial atresia @@ -516515,7 +517149,7 @@ - A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis. + A developmental anomaly characterized by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis. @@ -518010,26 +518644,10 @@ - - An abnormal amount of any of the interleukins, a class of cytokines, in the circulation. - UMLS:C4280772 - Abnormal serum IL level - Abnormal serum interleukin level - Abnormal circulating interleukin concentration + HP:0011117 + obsolete Abnormal circulating interleukin concentration + true - - - - An abnormal amount of any of the interleukins, a class of cytokines, in the circulation. - - PMID:28487810 - - - - - Abnormal serum IL level - - @@ -518190,7 +518808,7 @@ An anomolous earwax color. Earwax (cerumen) is usually light to dark brown or orange in color. UMLS:C4280768 - Abnormal cerumen colour + Abnormal cerumen color Abnormal cerumen pigmentation Abnormal cerumen color @@ -518855,6 +519473,12 @@ PMID:19470903 + + + + Orange coloured tonsils + + @@ -520265,7 +520889,7 @@ Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray. UMLS:C4280734 Facet arthritis - Facet joint osteoarthritis (FJ OA) is intimately linked to degenerative disc disease, which affects structures in the anterior aspect of the vertebral column. FJ OA and degenerative disc disease are both common causes of back and neck pain. + Facet joint osteoarthritis (FJ OA) is intimately linked to degenerative disk disease, which affects structures in the anterior aspect of the vertebral column. FJ OA and degenerative disk disease are both common causes of back and neck pain. Facet joint arthrosis @@ -521365,7 +521989,7 @@ Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum. - Cerebellar oedema + Cerebellar edema Edema of the cerebellum Oedema of the cerebellum Cerebellar edama can manifest on magnetic resonance imaging as hyperintense T2 and FLAIR signals, which do not show restricted diffusion. @@ -522712,7 +523336,7 @@ A deviation from the normal concentration of serum bile acid concentration. 2017-05-13T12:45:39Z - There are two major bile acids, cholic acid and chenodeoxycholic acid, which are synthesised in the hepatocyte by the cytochrome P450-mediated oxidation of cholesterol. These bile acids are secreted into the biliary canaliculi as sodium salts and conjugated with glycine, taurine, sulphate or glucuronic acid, and stored in the gall bladder until excreted into the intestinal lumen in response to a fatty meal. Enterohepatic circulation of bile salts is associated with conversion of the primary bile salts to secondary bile salts by bacerial enyzmes. The total bile pool of about 4 grams is recirculated about 5 to 10 times per day. Because serum bile salt concentration can increase by two to five times after a meal it is important that bile salts are measured while the subject is fasting. + There are two major bile acids, cholic acid and chenodeoxycholic acid, which are synthesized in the hepatocyte by the cytochrome P450-mediated oxidation of cholesterol. These bile acids are secreted into the biliary canaliculi as sodium salts and conjugated with glycine, taurine, sulfate or glucuronic acid, and stored in the gall bladder until excreted into the intestinal lumen in response to a fatty meal. Enterohepatic circulation of bile salts is associated with conversion of the primary bile salts to secondary bile salts by bacerial enyzmes. The total bile pool of about 4 grams is recirculated about 5 to 10 times per day. Because serum bile salt concentration can increase by two to five times after a meal it is important that bile salts are measured while the subject is fasting. Abnormal serum bile acid concentration @@ -524942,17 +525566,18 @@ - - A reduced concentration of inhibin B in the blood. + + The concentration of inhibin B in the blood circulation is below the lower limit of normal. 2017-05-30T02:19:26Z + 277000 Inhibin B, a dimer with an alpha and a betaB subunit, is produced exclusively by the testis and controls FSH secretion via a negative feedback mechanism. - Decreased inhibin B level + Decreased circulating inhibin B concentration - A reduced concentration of inhibin B in the blood. + The concentration of inhibin B in the blood circulation is below the lower limit of normal. PMID:11720872 @@ -525544,13 +526169,13 @@ - + A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP). 2017-06-10T18:39:37Z Abnormal B-type natriuretic peptide level Increased plasma levels of circulating natriuretic peptides (NP) have been described in patients with congestive heart failure and are directly proportional to the severity of congestive heart failure as classified by the New York Heart Association criteria. - Abnormal B-type natriuretic peptide concentration + Abnormal circulating B-type natriuretic peptide concentration @@ -526527,7 +527152,7 @@ - A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses. + A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarized light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses. 2017-06-27T11:10:06Z The presence of fatty casts in urine may be associated with heavy proteinuria in patients with nephrotic syndrome. @@ -526536,7 +527161,7 @@ - A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses. + A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarized light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses. PMID:26079824 @@ -535232,7 +535857,7 @@ - Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. + Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fiber layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. 2017-12-02T11:22:46Z Retinal cotton wool spot @@ -535240,7 +535865,7 @@ - Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. + Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fiber layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. PMID:6169833 @@ -535381,7 +536006,7 @@ Sub-ILM haemorrhage Sub-ILM hemorrhage Sub-inner limiting membrane haemorrhage - Preretinal hemorrhages usually occur at the interface between the posterior hyaloid and inner limiting membrane (ILM). Less frequently, they are located in the superficial retina between the ILM and the retinal nerve fibre layer. These sharply demarcated, dome-shaped hemorrhages show a predilection for the macular region and consequently lead to severe visual impairment. + Preretinal hemorrhages usually occur at the interface between the posterior hyaloid and inner limiting membrane (ILM). Less frequently, they are located in the superficial retina between the ILM and the retinal nerve fiber layer. These sharply demarcated, dome-shaped hemorrhages show a predilection for the macular region and consequently lead to severe visual impairment. Sub-inner limiting membrane hemorrhage @@ -536784,7 +537409,7 @@ - Typical atrial flutter is an organised atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative. + Typical atrial flutter is an organized atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative. 2017-12-17T16:44:25Z Typical atrial flutter @@ -536792,7 +537417,7 @@ - Typical atrial flutter is an organised atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative. + Typical atrial flutter is an organized atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative. PMID:28835836 @@ -539496,7 +540121,7 @@ - A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal haemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina. + A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal hemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina. 2018-03-07T15:35:11Z Intraretinal haemorrhage @@ -539506,7 +540131,7 @@ - A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal haemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina. + A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal hemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina. @@ -540575,6 +541200,7 @@ + A break or crush injury of the thigh bone (femur). 2018-05-05T15:37:43Z @@ -540858,7 +541484,7 @@ - + The presence of an infectious agent in the blood circulation. 2018-05-05T21:12:23Z @@ -542234,7 +542860,7 @@ The presence of linear erythematous palpable cords, often on the lateral trunk. 2018-07-04T12:31:32Z - Its associations include connective tissue disease (particularly SLE), rheumatoid arthritis, autoimmune thyroiditis, carcinomas and drug reactions. Histology reveals an interstitial and palisading granulomatous dermatitis associated with piecemeal fragmentation of collagen and elastic fibres + Its associations include connective tissue disease (particularly SLE), rheumatoid arthritis, autoimmune thyroiditis, carcinomas and drug reactions. Histology reveals an interstitial and palisading granulomatous dermatitis associated with piecemeal fragmentation of collagen and elastic fibers Rope sign @@ -542367,7 +542993,7 @@ - Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behaviour and its occurrence may be favoured by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation. + Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behavior and its occurrence may be favored by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation. 2018-07-04T20:01:21Z Ocular flutter @@ -542375,7 +543001,7 @@ - Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behaviour and its occurrence may be favoured by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation. + Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behavior and its occurrence may be favored by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation. PMID:17314191 @@ -542693,7 +543319,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + An increased concentration of N,N-dimethylglycine in the circulation. 2018-07-06T11:54:09Z @@ -543353,16 +544039,16 @@ - An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc. + An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disk. 2018-07-08T00:08:21Z - Primary open angle glaucoma is causing a progressive optic neuropathy and its development is associated with loss of tissue in the neuroretinal rim of the optic disc and that will lead to increase in the size of the optic cup. Clinical estimation of the size of the cup using either the slit lamb or a simple imaging modalities such as fundus images is a significant clinical parameter and remains the simplest and most frequently performed assessment of the optic disc in the diagnosis and follows up the progression of the glaucoma suspect. The estimation of the size of the cup is usually made by comparison with the size of the disc and given as the ratio of the vertical and horizontal diameter of the cup to the vertical and horizontal diameter. + Primary open angle glaucoma is causing a progressive optic neuropathy and its development is associated with loss of tissue in the neuroretinal rim of the optic disc and that will lead to increase in the size of the optic cup. Clinical estimation of the size of the cup using either the slit lamb or a simple imaging modalities such as fundus images is a significant clinical parameter and remains the simplest and most frequently performed assessment of the optic disc in the diagnosis and follows up the progression of the glaucoma suspect. The estimation of the size of the cup is usually made by comparison with the size of the disk and given as the ratio of the vertical and horizontal diameter of the cup to the vertical and horizontal diameter. Increased vertical cup-to-disc ratio - An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc. + An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disk. @@ -543372,7 +544058,7 @@ - Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.6 (The normal cup-to-disc ratio is 0.3). + Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.6 (The normal cup-to-disc ratio is 0.3). 2018-07-08T00:13:08Z Increased vertical cup-to-disc ratio - 0.6 @@ -543380,7 +544066,7 @@ - Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.6 (The normal cup-to-disc ratio is 0.3). + Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.6 (The normal cup-to-disc ratio is 0.3). @@ -543390,7 +544076,7 @@ - Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.7 (The normal cup-to-disc ratio is 0.3). + Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.7 (The normal cup-to-disc ratio is 0.3). 2018-07-08T00:15:02Z Increased vertical cup-to-disc ratio - 0.7 @@ -543398,7 +544084,7 @@ - Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.7 (The normal cup-to-disc ratio is 0.3). + Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.7 (The normal cup-to-disc ratio is 0.3). @@ -543408,7 +544094,7 @@ - Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3). + Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.8 (The normal cup-to-disc ratio is 0.3). 2018-07-08T00:15:07Z Increased vertical cup-to-disc ratio - 0.8 @@ -543416,7 +544102,7 @@ - Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3). + Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.8 (The normal cup-to-disc ratio is 0.3). @@ -543426,7 +544112,7 @@ - Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.9 (The normal cup-to-disc ratio is 0.3). + Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.9 (The normal cup-to-disc ratio is 0.3). 2018-07-08T00:15:12Z Increased vertical cup-to-disc ratio - 0.9 @@ -543434,7 +544120,7 @@ - Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.9 (The normal cup-to-disc ratio is 0.3). + Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.9 (The normal cup-to-disc ratio is 0.3). @@ -543444,7 +544130,7 @@ - Ratio of the height of the cup of the optic nerve head to the height of the disc is 1.0 (The normal cup-to-disc ratio is 0.3). + Ratio of the height of the cup of the optic nerve head to the height of the disk is 1.0 (The normal cup-to-disc ratio is 0.3). 2018-07-08T00:15:23Z Increased vertical cup-to-disc ratio - 1.0 @@ -543452,7 +544138,7 @@ - Ratio of the height of the cup of the optic nerve head to the height of the disc is 1.0 (The normal cup-to-disc ratio is 0.3). + Ratio of the height of the cup of the optic nerve head to the height of the disk is 1.0 (The normal cup-to-disc ratio is 0.3). @@ -544412,7 +545098,7 @@ - A reduced concentration or activity of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs. + A reduced concentration or activity of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesized and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs. 2018-09-01T14:16:39Z Reduced serum alpha-1-antitrypsin @@ -544421,7 +545107,7 @@ - A reduced concentration or activity of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs. + A reduced concentration or activity of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesized and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs. PMID:24507836 @@ -544451,7 +545137,7 @@ - Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size. + Yellow, white or grayish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size. 2018-09-01T14:43:45Z Retinal dots @@ -544459,7 +545145,7 @@ - Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size. + Yellow, white or grayish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size. @@ -544469,7 +545155,7 @@ - Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size. + Yellow, white or grayish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size. 2018-09-01T14:44:49Z Macular dots @@ -544477,7 +545163,7 @@ - Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size. + Yellow, white or grayish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size. @@ -544506,7 +545192,7 @@ - Laxity of the tendon stabilising the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed. + Laxity of the tendon stabilizing the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed. 2018-09-01T14:49:57Z Lateral canthal tendon laxity @@ -544514,7 +545200,7 @@ - Laxity of the tendon stabilising the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed. + Laxity of the tendon stabilizing the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed. @@ -544524,7 +545210,7 @@ - Laxity of the tendon stabilising the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally. + Laxity of the tendon stabilizing the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally. 2018-09-01T14:50:46Z Medial canthal tendon laxity @@ -544532,7 +545218,7 @@ - Laxity of the tendon stabilising the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally. + Laxity of the tendon stabilizing the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally. @@ -544560,7 +545246,7 @@ - Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilising structures (e.g. lower lid retractors) or tarsal atrophy are often present. + Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilizing structures (e.g. lower lid retractors) or tarsal atrophy are often present. 2018-09-01T14:52:17Z Vertical eyelid laxity @@ -544568,7 +545254,7 @@ - Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilising structures (e.g. lower lid retractors) or tarsal atrophy are often present. + Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilizing structures (e.g. lower lid retractors) or tarsal atrophy are often present. @@ -545037,7 +545723,7 @@ - A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organisation (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis). + A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organization (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis). 2018-09-16T11:16:43Z Focal cortical dysplasia type IIIa @@ -545045,7 +545731,7 @@ - A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organisation (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis). + A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organization (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis). PMID:21219302 @@ -545827,9 +546513,9 @@ - + - + @@ -545858,9 +546544,9 @@ - + - + @@ -545899,9 +546585,9 @@ - + - + @@ -545930,9 +546616,9 @@ - + - + @@ -545978,9 +546664,9 @@ - + - + @@ -546009,9 +546695,9 @@ - + - + @@ -547818,16 +548504,16 @@ - An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterised by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella. + An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterized by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella. 2018-12-16T15:12:18Z - Varicella-zoster virus (VZV) is one of eight herpes viruses known to cause human infection and is distributed worldwide. Varicella zoster infections are considered to be mild and ubiquitous infections predominantly affecting the paediatric population. However, in adults and in specific groups of patients, such as those who are immunosuppressed, varicella infections can be fulminant and life threatening. + Varicella-zoster virus (VZV) is one of eight herpes viruses known to cause human infection and is distributed worldwide. Varicella zoster infections are considered to be mild and ubiquitous infections predominantly affecting the pediatric population. However, in adults and in specific groups of patients, such as those who are immunosuppressed, varicella infections can be fulminant and life threatening. Severe varicella zoster infection - An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterised by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella. + An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterized by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella. PMID:21748081 PMID:23248376 @@ -548681,7 +549367,7 @@ - Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognised: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC. + Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognized: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC. 2019-01-20T13:31:43Z Vulvar intraepithelial neoplasia @@ -548689,7 +549375,7 @@ - Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognised: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC. + Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognized: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC. NCIT:C4756 PMID:30187167 @@ -548797,7 +549483,7 @@ An increased circulation of galectin-3 in the blood circulation. 2019-01-20T15:21:52Z - Galectin-3 is a member of the family of beta-galactoside-binding endogenous lectins. It is a multifunctional factor that binds to distinct ligands and triggers production of matrix metalloproteinases, and thereby plays a role in cardiac fibrosis and remodelling. + Galectin-3 is a member of the family of beta-galactoside-binding endogenous lectins. It is a multifunctional factor that binds to distinct ligands and triggers production of matrix metalloproteinases, and thereby plays a role in cardiac fibrosis and remodeling. Increased circulating galectin-3 level @@ -549868,7 +550554,7 @@ A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis. 2019-01-27T16:44:42Z - Granulomas vary considerably in their degree of complexity, physical size and organization. Not surprisingly, their classification has attracted much attention, and a numbers of schemes have been described. The cornerstone of the granulomatous response, however, is the predominant involvement of mononuclear phagocytes. As granulomas develop, tissue-resident, as well as inflammatory mononuclear phagocytes become intimately acquainted, and these cells may develop highly differentiated epithelioid cell characteristics. In many cases, elegant multinucleate populations can be seen, distinct from the syncytia formed after viral infection as evident by their extended life-span. Accumulating lymphocytes, mainly T cells, contribute to the developing microarchitecture of the granuloma, often with characteristic patterns of subset organization relative to the core of mononuclear phagocytes and to each other. B lymphocytes, plasma cells, NK cells and neutrophils may all be present, though a relative paucity of neutrophils delineates these sites of inflammation from those associated with necrosis. At its extreme, the granuloma may serve as the focus for irreversible fibrotic reactions, but, even in less dramatic cases, a substantive degree of local tissue remodelling occurs. + Granulomas vary considerably in their degree of complexity, physical size and organization. Not surprisingly, their classification has attracted much attention, and a numbers of schemes have been described. The cornerstone of the granulomatous response, however, is the predominant involvement of mononuclear phagocytes. As granulomas develop, tissue-resident, as well as inflammatory mononuclear phagocytes become intimately acquainted, and these cells may develop highly differentiated epithelioid cell characteristics. In many cases, elegant multinucleate populations can be seen, distinct from the syncytia formed after viral infection as evident by their extended life-span. Accumulating lymphocytes, mainly T cells, contribute to the developing microarchitecture of the granuloma, often with characteristic patterns of subset organization relative to the core of mononuclear phagocytes and to each other. B lymphocytes, plasma cells, NK cells and neutrophils may all be present, though a relative paucity of neutrophils delineates these sites of inflammation from those associated with necrosis. At its extreme, the granuloma may serve as the focus for irreversible fibrotic reactions, but, even in less dramatic cases, a substantive degree of local tissue remodeling occurs. Granuloma @@ -550308,26 +550994,79 @@ - - Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry. + HP:0034649 2019-01-27T21:01:43Z - Although NAA concentration is also elevated in the blood and cerebrospinal fluid (CSF) of children with neonatal/infantile (severe) Canavan disease, elevated concentration of NAA in urine is sufficient for diagnosis of affected individuals. - Elevated urinary N-acetylaspartic acid level + obsolete Elevated urinary N-acetylaspartic acid level + true - - - - Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry. - PMID:8412017 - + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Concentration of N-acetylaspartic acid in the blood circulation above the upper limit of normal. 2019-01-27T21:06:29Z @@ -551434,7 +552173,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + An abnormal increased in the amount of the carbohydrate antigen 19-9, a recognizable sialo-ganglioside in the blood circulation. 2019-02-21T13:26:41Z @@ -552744,7 +553543,7 @@ An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation. 2019-02-24T17:04:20Z - Dysgyria translates as abnormal gyration and can therefore be applied to almost every type of MCD (malformations of cortical development). However, this term was introduced to describe cortical malformations that do not meet classic features of any of the abovementioned well-established MCD types. Dysgyria describes a cortex of variable thickness and an abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation (for example, obliquely oriented sulci directed radially towards the centre of the cerebrum and narrow gyri separated by abnormally deep or shallow sulci). In the vast majority of cases, the term dysgyria describes an abnormal non-lissencephaly, non-polymicrogyria cortex within the spectrum of tubulinopathies. + Dysgyria translates as abnormal gyration and can therefore be applied to almost every type of MCD (malformations of cortical development). However, this term was introduced to describe cortical malformations that do not meet classic features of any of the abovementioned well-established MCD types. Dysgyria describes a cortex of variable thickness and an abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation (for example, obliquely oriented sulci directed radially towards the center of the cerebrum and narrow gyri separated by abnormally deep or shallow sulci). In the vast majority of cases, the term dysgyria describes an abnormal non-lissencephaly, non-polymicrogyria cortex within the spectrum of tubulinopathies. Dysgyria @@ -553921,7 +554720,7 @@ - A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and grey matter. + A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and gray matter. 2019-03-08T11:17:49Z Unlayered lissencephaly @@ -553929,7 +554728,7 @@ - A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and grey matter. + A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and gray matter. @@ -554293,7 +555092,7 @@ - + An abnormal concentration of urobilinogen in the urine. 2019-04-09T11:53:12Z @@ -554598,7 +555397,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + An increased level of the non-proteinogenic amino acid argininosuccinic acid in the blood circulation. 2019-04-11T12:01:22Z @@ -555250,12 +556109,15 @@ - + Reduced level of succinic semialdehyde dehydrogenase (SSADH). 2019-05-27T12:55:45Z + Decreased succinic semialdehyde dehydrogenase activity in cultured fibroblasts + Decreased succinic semialdehyde dehydrogenase leukocyte activity + Decreased succinic semialdehyde dehydrogenase level Succinic semialdehyde dehydrogenase catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA). - Decreased succinic semialdehyde dehydrogenase level + Decreased tissue succinic semialdehyde dehydrogenase activity @@ -557959,6 +558821,12 @@ Secondarily generalised convulsive status epilepticus + + + + Secondarily generalised tonic-clonic status epilepticus + + @@ -558273,7 +559141,7 @@ - A type of focal-onset seizure characterized by non-motor signs or symptoms (or behaviour arrest) as its initial semiological manifestation. + A type of focal-onset seizure characterized by non-motor signs or symptoms (or behavior arrest) as its initial semiological manifestation. Focal seizure without motor onset Partial seizure without motor onset @@ -558283,7 +559151,7 @@ - A type of focal-onset seizure characterized by non-motor signs or symptoms (or behaviour arrest) as its initial semiological manifestation. + A type of focal-onset seizure characterized by non-motor signs or symptoms (or behavior arrest) as its initial semiological manifestation. PMID:28276060 PMID:28276064 @@ -559319,7 +560187,7 @@ - Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behaviour. + Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behavior. This seizure type localizes to prefrontal or mesial temporal regions of the brain. Focal emotional seizure with anger @@ -559327,7 +560195,7 @@ - Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behaviour. + Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behavior. PMID:28276060 PMID:28276064 @@ -559683,7 +560551,7 @@ - A focal autonomic seizure characterised by impaired awareness at some point within the seizure. + A focal autonomic seizure characterized by impaired awareness at some point within the seizure. HP:0011155 Focal autonomic seizure with altered responsiveness @@ -559695,7 +560563,7 @@ - A focal autonomic seizure characterised by impaired awareness at some point within the seizure. + A focal autonomic seizure characterized by impaired awareness at some point within the seizure. PMID:20196795 PMID:23739099 PMID:28276060 @@ -559866,14 +560734,14 @@ - A type of focal autonomic seizure characterised by penile erection as the initial semiological feature. + A type of focal autonomic seizure characterized by penile erection as the initial semiological feature. Focal autonomic seizure with erection - A type of focal autonomic seizure characterised by penile erection as the initial semiological feature. + A type of focal autonomic seizure characterized by penile erection as the initial semiological feature. PMID:28276060 @@ -560308,7 +561176,7 @@ - A focal behavior arrest seizure characterised by retained awareness throughout the seizure. + A focal behavior arrest seizure characterized by retained awareness throughout the seizure. Focal aware behaviour arrest seizure Focal aware behavior arrest seizure @@ -560316,7 +561184,7 @@ - A focal behavior arrest seizure characterised by retained awareness throughout the seizure. + A focal behavior arrest seizure characterized by retained awareness throughout the seizure. PMID:20196795 PMID:23739099 PMID:28276060 @@ -560337,7 +561205,7 @@ - A focal behavior arrest seizure characterised by impaired awareness at some point during the seizure. + A focal behavior arrest seizure characterized by impaired awareness at some point during the seizure. Focal impaired awareness behaviour arrest seizure Focal impaired awareness behavior arrest seizure @@ -560345,7 +561213,7 @@ - A focal behavior arrest seizure characterised by impaired awareness at some point during the seizure. + A focal behavior arrest seizure characterized by impaired awareness at some point during the seizure. PMID:20196795 PMID:23739099 PMID:28276060 @@ -560382,7 +561250,7 @@ - A tonic seizure is a type of motor seizure characterised by unilateral or bilateral limb stiffening or elevation, often with neck stiffening. + A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening. This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding tonic seizures when the onset is not known. The tonic contraction of muscles can result in a tremor, not to be confused with a clonic phase. This term does not apply to seizures with a tonic phase followed a clonic phase, see bilateral tonic-clonic seizure. Tonic seizure @@ -560390,7 +561258,7 @@ - A tonic seizure is a type of motor seizure characterised by unilateral or bilateral limb stiffening or elevation, often with neck stiffening. + A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening. PMID:11580774 @@ -560418,7 +561286,7 @@ - A myoclonic seizure is a type of motor seizure characterised by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. + A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding myoclonic seizures when the onset is not known. Myoclonic seizure @@ -560426,7 +561294,7 @@ - A myoclonic seizure is a type of motor seizure characterised by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. + A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. PMID:11580774 @@ -560436,7 +561304,7 @@ - A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterised by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus. + A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterized by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus. Generalised myoclonic-tonic-clonic seizure Generalised onset myoclonic-tonic-clonic seizure @@ -560449,7 +561317,7 @@ - A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterised by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus. + A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterized by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus. PMID:28276060 PMID:28276064 @@ -560948,6 +561816,7 @@ Neonatal electro-clinical non-motor seizure with behavior arrest is a type of neonatal electro-clinical seizure characterized by an arrest of activities, freezing, immobilization, with or without apnea and/or other autonomic manifestations. Neonatal electro-clinical seizure with behaviour arrest + Neonatal electroclinical seizure with behavioral arrest Neonatal electroclinical seizure with behavioural arrest May be focal and/or followed by apnea, other autonomic manifestations and motor seizures. Neonatal electro-clinical seizure with behavior arrest @@ -560964,6 +561833,12 @@ Neonatal electro-clinical seizure with behaviour arrest + + + + Neonatal electroclinical seizure with behavioural arrest + + @@ -560991,7 +561866,7 @@ Neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic signs, often changing lateralization within or between seizures. Neonatal electroclinical sequential seizure - No predominant feature can be determined, instead the seizure presents with a variety of clinical signs. Several features typically occur in a sequence, often with changing lateralization within or between seizures. Most commonly seen in epilepsies of genetic aetiology. + No predominant feature can be determined, instead the seizure presents with a variety of clinical signs. Several features typically occur in a sequence, often with changing lateralization within or between seizures. Most commonly seen in epilepsies of genetic etiology. Neonatal electro-clinical sequential seizure @@ -561464,7 +562339,7 @@ - A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis. + A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis. More complex visual hallucinations such as seeing formed images are considered a focal cognitive seizure. Focal sensory visual seizures arise in the occipital lobe. Focal aware sensory seizure with visual features @@ -561472,7 +562347,7 @@ - A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis. + A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis. PMID:28276060 @@ -562856,7 +563731,7 @@ - Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large calibre myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases. + Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large caliber myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases. Elevated CSF neurofilament light chain Elevated CSF neurofilament light chain concentration @@ -562864,7 +563739,7 @@ - Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large calibre myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases. + Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large caliber myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases. PMID:31182505 @@ -563448,7 +564323,7 @@ The presence of uric acid crystals in the urine. - Uric acid crystals are very pleiomorphic, but the rhomboidal shape is the most frequent. Distinctive morphological features are the amber colour and the constant polychromatic birefringence. These crystals can be found both in normal subjects as well as in stone formers. Moreover, they can be found, alone or with amorphous urates in patients with increased purine metabolism. + Uric acid crystals are very pleiomorphic, but the rhomboidal shape is the most frequent. Distinctive morphological features are the amber color and the constant polychromatic birefringence. These crystals can be found both in normal subjects as well as in stone formers. Moreover, they can be found, alone or with amorphous urates in patients with increased purine metabolism. Uric acid crystalluria @@ -563851,7 +564726,7 @@ Accumulation of inhaled, nondigestable particles in macrophages. - This can be recognized in May-Grunwald-Giemsa routine stains. Rarey and for special indications, BAL can be further analysed to identify and quantify dust exposure. X-ray microprobe analysis identified particles which related to the known exposures, superimposed on a background of other particles related to smoking (kaolinite and mica) or to the general environment (silicon, titanium, and iron). Inhaled dust can follow in fibrous tissue and scarring which follow in impaired lung function. + This can be recognized in May-Grunwald-Giemsa routine stains. Rarey and for special indications, BAL can be further analyzed to identify and quantify dust exposure. X-ray microprobe analysis identified particles which related to the known exposures, superimposed on a background of other particles related to smoking (kaolinite and mica) or to the general environment (silicon, titanium, and iron). Inhaled dust can follow in fibrous tissue and scarring which follow in impaired lung function. Dust particle inclusion in alveolar macrophages @@ -565455,14 +566330,14 @@ - A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber colour. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance. + A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber color. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance. Medication crystalluria - A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber colour. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance. + A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber color. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance. PMID:8671802 @@ -565713,7 +566588,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + An elevated level of farnesol in the blood circulation. Farnesol is a farnesane sesquiterpenoid that is dodeca-2,6,10-triene substituted by methyl groups at positions 3, 7 and 11 and a hydroxy group at position 1. Its concentration in the blood circulation is increased in inherited squalene synthase deficiency. @@ -566416,7 +567351,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + An abnormally increased level of alpa-aminobutyric acid in the blood circulation. Alpha-aminobutyric acid alpha-amino acid that is butyric acid bearing a single amino substituent located at position 2. 2020-08-29T12:06:38Z @@ -566741,7 +567736,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + An increased level of sorbitol in the blood circulation. 2020-09-05T13:02:12Z @@ -566779,7 +567834,7 @@ - Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red coloured skin. + Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red colored skin. 2020-09-05T13:12:04Z Skin necrosis @@ -566788,7 +567843,7 @@ - Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red coloured skin. + Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red colored skin. PMID:28470091 @@ -567415,7 +568470,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Increased concentration of isovaleric acid, a C5, branched-chain saturated fatty acid, in the blood concentration. 2020-09-19T11:42:45Z @@ -567565,7 +568680,67 @@ - + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + An abnormally increased circulation of dodecenoylcarnitine, C12:1, in the blood circulation. 2020-09-19T12:32:07Z @@ -567597,7 +568772,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Abnormally increased concentration of L-alloisoleucine in the blood circulation. 2020-09-20T11:33:58Z @@ -568022,7 +569257,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Concentration of L-pyroglutamic acid in the blood is above the upper limit of normal. 2020-09-24T10:49:50Z @@ -568055,7 +569350,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + An increased concentration of suberic acid in the blood circulation. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane. 2020-09-25T12:49:42Z @@ -568067,7 +569422,7 @@ - + An increased concentration of interleukin-8 in the circulation. 2020-09-28T22:05:51Z @@ -571162,7 +572517,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Increased concentration of guanosine in the blood circulation. 2020-11-29T19:06:04Z @@ -571174,7 +572589,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + An increased concentration of beta-sitosterol in the blood circulation. 2020-11-30T12:46:27Z @@ -571313,7 +572788,7 @@ - A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognisable by the primary clinician, carer or patient. + A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognizable by the primary clinician, carer or patient. 2020-11-30T22:08:36Z Acute repetitive seizures @@ -571322,13 +572797,13 @@ Recurrent seizures Seizure flurries Serial seizures - This term should be used with an HPO term for the appropriate type of seizure to denote clustered occurence of seizures. There is no consensus within the medical community regarding the definition of a seizure cluster, where limitations of current clinical definitions include poor sensitivity and specificity. The proposed definition is meant to serve as a placeholder until a more robust definition, likely facilitated by technological advances in seizure tracking devices and personalised cluster identification is agreed upon. + This term should be used with an HPO term for the appropriate type of seizure to denote clustered occurence of seizures. There is no consensus within the medical community regarding the definition of a seizure cluster, where limitations of current clinical definitions include poor sensitivity and specificity. The proposed definition is meant to serve as a placeholder until a more robust definition, likely facilitated by technological advances in seizure tracking devices and personalized cluster identification is agreed upon. Seizure cluster - A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognisable by the primary clinician, carer or patient. + A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognizable by the primary clinician, carer or patient. PMID:29871784 PMID:32305858 @@ -571453,7 +572928,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + An abnormally increased level of o-phosphoserine in the blood circulation. o-phosphoserine is a derivative of serine. 2020-12-01T12:16:14Z @@ -572011,7 +573546,7 @@ 2021-01-02T12:41:56Z Decreased CMAP amplitude - The CMAP is a summated voltage response from the individual muscle fibre action potentials. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV). + The CMAP is a summated voltage response from the individual muscle fiber action potentials. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV). Decreased compound muscle action potential amplitude @@ -572050,7 +573585,7 @@ 2021-01-02T13:31:16Z Elevated urine hydroxylysyl-pyridinoline level - The urinary cross-links lysyl-pyridinoline (LP, or deoxypyridinoline DPD) and hydroxylysyl-pyridinoline (HP, or pyridinoline PYD) are biochemical markers of osteoclastic bone resorption and collagen degradation. Pyridinolines are formed during fibril formation of type I and type II collagen in the extracellular matrix. Some lysyl- and hydroxylysyl-residues in distinct positions in the collagen triple-helix and in the telopeptides of the tropocollagen are oxidised by lysyl oxidase. Subsequently three of these residues are covalently linked thereby interconnecting tropocollagen molecules and stabilizing the collagen matrix. When bone collagen is degraded, pyridinolines remain as stable degradation products and are secreted with the urine. + The urinary cross-links lysyl-pyridinoline (LP, or deoxypyridinoline DPD) and hydroxylysyl-pyridinoline (HP, or pyridinoline PYD) are biochemical markers of osteoclastic bone resorption and collagen degradation. Pyridinolines are formed during fibril formation of type I and type II collagen in the extracellular matrix. Some lysyl- and hydroxylysyl-residues in distinct positions in the collagen triple-helix and in the telopeptides of the tropocollagen are oxidized by lysyl oxidase. Subsequently three of these residues are covalently linked thereby interconnecting tropocollagen molecules and stabilizing the collagen matrix. When bone collagen is degraded, pyridinolines remain as stable degradation products and are secreted with the urine. Elevated urine pyridinoline level @@ -572077,11 +573612,71 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + An increased concentration of hydroxylysyl-pyridinoline (pyridinoline) in the blood circulation. 2021-01-02T13:36:47Z - The urinary cross-links lysyl-pyridinoline (LP, or deoxypyridinoline DPD) and hydroxylysyl-pyridinoline (HP, or pyridinoline PYD) are established biochemical markers of osteoclastic bone resorption and collagen degradation. Pyridinolines are formed during fibril formation of type I and type II collagen in the extracellular matrix. Some lysyl- and hydroxylysyl-residues in distinct positions in the collagen triple-helix and in the telopeptides of the tropocollagen are oxidised by lysyl oxidase. Subsequently three of these residues are covalently linked thereby interconnecting tropocollagen molecules and stabilizing the collagen matrix. When bone collagen is degraded, pyridinolines remain as stable degradation products and are secreted with the urine. Depending on whether or not these lysyl residues had been hydroxylated prior to crosslinking, lysyl-pyridinoline (LP) or hydroxylysyl-pyridinoline (HP) is generated. + The urinary cross-links lysyl-pyridinoline (LP, or deoxypyridinoline DPD) and hydroxylysyl-pyridinoline (HP, or pyridinoline PYD) are established biochemical markers of osteoclastic bone resorption and collagen degradation. Pyridinolines are formed during fibril formation of type I and type II collagen in the extracellular matrix. Some lysyl- and hydroxylysyl-residues in distinct positions in the collagen triple-helix and in the telopeptides of the tropocollagen are oxidized by lysyl oxidase. Subsequently three of these residues are covalently linked thereby interconnecting tropocollagen molecules and stabilizing the collagen matrix. When bone collagen is degraded, pyridinolines remain as stable degradation products and are secreted with the urine. Depending on whether or not these lysyl residues had been hydroxylated prior to crosslinking, lysyl-pyridinoline (LP) or hydroxylysyl-pyridinoline (HP) is generated. Elevated circulating pyridinoline concentration @@ -572294,7 +573889,7 @@ - Deposits of hyalinized collagen fibres in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs). + Deposits of hyalinized collagen fibers in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs). 2021-01-09T14:32:56Z Pleural plaques are indicative of asbestos exposure. Grossly, the pleural plaque is characterized by hyalinized discrete elevated gray-white or pearly areas involving the parietal pleura. Despite varying sizes and shapes, the pattern of the plaques is repetitive. There is a flat or slightly uneven surface, with steep edges rising abruptly from the surrounding normal pleura, and here and there rounded mounds, with somewhat overhanging edges. The thick pleural plaques are typical in appearance, and the classic comparison is to frosting or sugar icing (Zuckerguss), as is seen on serous membranes. @@ -572303,7 +573898,7 @@ - Deposits of hyalinized collagen fibres in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs). + Deposits of hyalinized collagen fibers in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs). PMID:929215 @@ -572418,7 +574013,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any deviation from the normal concentration of an organic amino compound, defined as a compound formally derived from ammonia by replacing one, two or three hydrogen atoms by organyl groups. 2021-01-09T15:46:18Z @@ -572594,7 +574249,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + An increased concentration in the blood circulation of a hydroxybutyric acid, that is, of a compound comprising a butyric acid core carrying at least one hydroxy substituent. 2021-01-09T17:19:59Z @@ -572624,7 +574339,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Elevation of the 3-hydroxybutyric acid concentration in the blood above the normal range. 2021-01-09T17:23:23Z @@ -572897,7 +574672,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A deviation from the normal concentration of a keto acid in the blood circulation. Keto acids or ketoacids are organic compounds that contain a carboxylic acid group and a ketone group. 2021-01-09T18:24:28Z @@ -572921,7 +574756,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + The concentration of 4-methyl-2-oxopentanoic acid in the blood circulation is above the upper limit of normal. 2021-01-09T18:28:20Z @@ -573031,8 +574926,8 @@ - - Concentration of dodecanoylcarnitine in the blood circulation above the upper limit of normal. + + Concentration of dodecanoylcarnitine (C12:0) in the blood circulation above the upper limit of normal. 2021-01-09T18:51:51Z Elevated circulating O-dodecanoylcarnitine concentration @@ -573045,7 +574940,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + An abnormally reduced concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine. 2021-01-09T18:53:21Z @@ -574071,7 +576026,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + An increased concentration of fumarate, an intermediate in the citric acid cycle, in the blood circulation. 2021-01-10T14:29:58Z @@ -574658,7 +576673,7 @@ Elevated circulating BNP concentration Increased B-type natriuretic peptide Increased ventricular natriuretic peptide - BNP is a hormone secreted by ventricular cardiomyocytes in response to stretching caused by increased ventricular blood volume. BNP is synthesised as a prohormone (proBNP) comprising 108 amino acids. After the release into the circulation proBNP is cleaved in equimolar amounts into the biologically active BNP (32 amino acid), and the biologically inactive 76 amino acid N-terminal fragment (NT-proBNP). BNP has a number of physiological effects including natriuresis and diuresis, peripheral vasodilation, inhibition of renin angiotensin aldosterone system (RAAS) and the sympathetic nervous system (SNS). + BNP is a hormone secreted by ventricular cardiomyocytes in response to stretching caused by increased ventricular blood volume. BNP is synthesized as a prohormone (proBNP) comprising 108 amino acids. After the release into the circulation proBNP is cleaved in equimolar amounts into the biologically active BNP (32 amino acid), and the biologically inactive 76 amino acid N-terminal fragment (NT-proBNP). BNP has a number of physiological effects including natriuresis and diuresis, peripheral vasodilation, inhibition of renin angiotensin aldosterone system (RAAS) and the sympathetic nervous system (SNS). Increased circulating brain natriuretic peptide concentration @@ -575058,7 +577073,7 @@ - Villitis of unknown etiology (synonymous with villitis of unknown aetiology) is a histologic diagnosis and, although it may have a variable distribution, evidence indicates that 3 parenchymal blocks will identify 62% of villitis, reaching an asymptote of 6 and 7 blocks identifying 85% of villitis. Villitis of unknown etiology by definition excludes those cases where an etiology is identified, such as viral or acute infections, and thus is preferred to the term nonspecific chronic villitis. It is usually lymphohistiocytic: although the presence of rare plasma cells does not exclude the diagnosis, thorough evaluation for an infectious etiology, such as cytomegalovirus, is required in a predominantly plasma cell villitis. + Villitis of unknown etiology (synonymous with villitis of unknown etiology) is a histologic diagnosis and, although it may have a variable distribution, evidence indicates that 3 parenchymal blocks will identify 62% of villitis, reaching an asymptote of 6 and 7 blocks identifying 85% of villitis. Villitis of unknown etiology by definition excludes those cases where an etiology is identified, such as viral or acute infections, and thus is preferred to the term nonspecific chronic villitis. It is usually lymphohistiocytic: although the presence of rare plasma cells does not exclude the diagnosis, thorough evaluation for an infectious etiology, such as cytomegalovirus, is required in a predominantly plasma cell villitis. 2021-01-22T12:38:39Z Chronic villitis (non-infectious) @@ -575213,6 +577228,9 @@ 2021-01-23T12:16:50Z Anti-MPO antibody positivity + Anti-myeloperoxidase specific antineutrophil cytoplasmic antibody + MPO-ANCA + MPO-ANCA are host-derived autoantibodies against shielded neutrophilic antigens. These antibodies react against primary granules present in neutrophils and monocytes. The formation of these antibodies has been hypothesized to be a two-step process. The first step involves exposure of neutrophils to inflammatory cytokines leading to surface exposure of cryptogenic antigens like myeloperoxidase or MPO. Next, predisposing genetic, environmental, and other factors result in the production of MPO-ANCA. In the second step, these MPO-ANCA cause damage to the host vasculature by reacting and crosslinking neutrophils to the endothelial receptors. Anti-myeloperoxidase antibody positivity @@ -575228,6 +577246,12 @@ Anti-MPO antibody positivity + + + + MPO-ANCA + + @@ -575610,7 +577634,7 @@ - Pre-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg). + Pre-capillary pulmonary hypertension is a haemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg). 2021-01-24T14:20:32Z Precapillary pulmonary hypertension @@ -575619,7 +577643,7 @@ - Pre-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg). + Pre-capillary pulmonary hypertension is a haemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg). PMID:30545968 @@ -575649,7 +577673,7 @@ - An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibres in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fibre action potentials. The shortest latency of the CMAP is the time from stimulus artefact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV). + An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibers in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fiber action potentials. The shortest latency of the CMAP is the time from stimulus artifact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV). 2021-01-24T16:18:16Z Compound motor action potential abnormality @@ -575657,7 +577681,7 @@ - An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibres in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fibre action potentials. The shortest latency of the CMAP is the time from stimulus artefact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV). + An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibers in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fiber action potentials. The shortest latency of the CMAP is the time from stimulus artifact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV). PMID:15961865 PMID:26744834 @@ -576268,7 +578292,7 @@ - Solid, homogenous nodules characterised by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes. + Solid, homogenous nodules characterized by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes. 2021-01-30T22:28:48Z Perifissural pulmonary nodule @@ -576276,7 +578300,7 @@ - Solid, homogenous nodules characterised by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes. + Solid, homogenous nodules characterized by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes. PMID:20177105 @@ -576716,7 +578740,7 @@ - Post-capillary pulmonary hypertension is a hemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units). + Post-capillary pulmonary hypertension is a hemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units). 2021-02-01T13:21:16Z Postcapillary pulmonary hypertension @@ -576726,7 +578750,7 @@ - Post-capillary pulmonary hypertension is a hemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units). + Post-capillary pulmonary hypertension is a hemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units). PMID:30545968 @@ -576737,7 +578761,7 @@ - Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units). + Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units). 2021-02-01T14:58:09Z Combined pre- and post-capillary pulmonary hypertension @@ -576745,7 +578769,7 @@ - Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units). + Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units). PMID:30545968 @@ -576948,7 +578972,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Increased concentation of very long-chain fatty acids in the blood circulation. Very long-chain fatty acids are fatty acids (FAs) with a chain-length of 22 or more carbons. 2021-02-24T12:39:07Z @@ -577696,7 +579780,7 @@ - The most common form of astrocytoma (WHO Grade I) in childhood. These typically have MAPK signalling pathway abnormalities. + The most common form of astrocytoma (WHO Grade I) in childhood. These typically have MAPK signaling pathway abnormalities. 2021-03-06T13:07:15Z NCIT:C4047 @@ -577705,7 +579789,7 @@ - The most common form of astrocytoma (WHO Grade I) in childhood. These typically have MAPK signalling pathway abnormalities. + The most common form of astrocytoma (WHO Grade I) in childhood. These typically have MAPK signaling pathway abnormalities. PMID:23817572 @@ -583759,7 +585843,7 @@ 2021-09-04T15:08:39Z Anti-human leukocyte antigen antibody positivity - The human major histocompatibility complex is a family of genes that encodes HLAs, which have a crucial role in defence against foreign pathogens and immune surveillance of tumors. HLA molecules are highly polymorphic antigens; antibodies against these antigens can develop as a result of pregnancy, transplantation or blood transfusion. + The human major histocompatibility complex is a family of genes that encodes HLAs, which have a crucial role in defense against foreign pathogens and immune surveillance of tumors. HLA molecules are highly polymorphic antigens; antibodies against these antigens can develop as a result of pregnancy, transplantation or blood transfusion. Anti-HLA antibody positivity @@ -584533,13 +586617,13 @@ An increased amount of calprotectin in the feces. 2021-11-27T14:02:14Z - Calprotectin is a calcium- and zinc-binding protein of the S-100 protein family which is mainly found within neutrophils and throughout the human body. The presence of calprotectin in faeces is a consequence of neutrophil migration into the gastrointestinal tissue due to an inflammatory process. Faecal calprotectin concentrations demonstrate good correlation with intestinal inflammation and faecal calprotectin is used as a biomarker in gastrointestinal disorders. + Calprotectin is a calcium- and zinc-binding protein of the S-100 protein family which is mainly found within neutrophils and throughout the human body. The presence of calprotectin in feces is a consequence of neutrophil migration into the gastrointestinal tissue due to an inflammatory process. Faecal calprotectin concentrations demonstrate good correlation with intestinal inflammation and fecal calprotectin is used as a biomarker in gastrointestinal disorders. Increased fecal calprotectin level - Calprotectin is a calcium- and zinc-binding protein of the S-100 protein family which is mainly found within neutrophils and throughout the human body. The presence of calprotectin in faeces is a consequence of neutrophil migration into the gastrointestinal tissue due to an inflammatory process. Faecal calprotectin concentrations demonstrate good correlation with intestinal inflammation and faecal calprotectin is used as a biomarker in gastrointestinal disorders. + Calprotectin is a calcium- and zinc-binding protein of the S-100 protein family which is mainly found within neutrophils and throughout the human body. The presence of calprotectin in feces is a consequence of neutrophil migration into the gastrointestinal tissue due to an inflammatory process. Faecal calprotectin concentrations demonstrate good correlation with intestinal inflammation and fecal calprotectin is used as a biomarker in gastrointestinal disorders. PMID:28420947 PMID:30828114 @@ -586590,6 +588674,7 @@ + The presence of autoantibodies (immunoglobulins) in the blood circulation that react against histidyl tRNA synthetase. 2021-12-23T14:07:13Z @@ -586770,7 +588855,7 @@ - + Any deviation from the normal range of the concentration of interleukin 9 in the blood circulation. 2022-02-19T11:37:53Z @@ -586794,7 +588879,7 @@ - + Any deviation from the normal range of the concentration of interleukin 10 in the blood circulation. 2022-02-19T11:38:54Z @@ -586818,7 +588903,7 @@ - + Any deviation from the normal range of the concentration of interleukin 21 in the blood circulation. 2022-02-19T11:39:51Z @@ -586854,7 +588939,7 @@ - + Any deviation from the normal range of the concentration of interleukin 22 in the blood circulation. 2022-02-19T11:41:04Z @@ -586890,7 +588975,7 @@ - + Any deviation from the normal range of the concentration of interleukin 23 in the blood circulation. 2022-02-19T11:42:21Z @@ -586926,7 +589011,7 @@ - + Any deviation from the normal range of the concentration of interleukin 27 in the blood circulation. 2022-02-19T11:43:39Z @@ -586962,7 +589047,7 @@ - + Any deviation from the normal range of the concentration of interleukin 17A in the blood circulation. 2022-02-19T11:45:00Z @@ -587248,7 +589333,7 @@ - Pulmonary embolism is caused by emboli, which have originated from venous thrombi, travelling to and occluding the arteries of the lung. + Pulmonary embolism is caused by emboli, which have originated from venous thrombi, traveling to and occluding the arteries of the lung. 2022-03-16T14:05:15Z Pulmonary embolism (PE) is the most dangerous form of venous thromboembolism, and undiagnosed or untreated PE can be fatal. Acute PE is associated with right ventricular dysfunction, which can lead to arrhythmia, haemodynamic collapse and shock. Furthermore, individuals who survive PE can develop post-PE syndrome, which is characterized by chronic thrombotic remains in the pulmonary arteries, persistent right ventricular dysfunction, decreased quality of life and/or chronic functional limitations. @@ -587257,7 +589342,7 @@ - Pulmonary embolism is caused by emboli, which have originated from venous thrombi, travelling to and occluding the arteries of the lung. + Pulmonary embolism is caused by emboli, which have originated from venous thrombi, traveling to and occluding the arteries of the lung. PMID:29770793 @@ -588358,7 +590443,7 @@ Nuchal edema is considered present in a fetus at gestational week 14 or more if in the midsagittal plane of the neck, there is subcutaneous edema that produces a characteristic tremor on ballotment of the fetal head. This constitutes the severe end of the spectrum of increased nuchal fold thickness, which is defined as soft-tissue thickening of 6 mm or more, seen in the suboccipitobregmatic view of the fetal head. Nuchal edema may be confined to the neck or it may be generalized, as part of hydrops fetalis. 2022-04-12T22:57:01Z - In the fetus fluid collects behind the neck, much like it does in dependent ankle oedema in later life. This occurs partly because of the tendency for the fetus to lie on its back and partly because of the laxity of the skin of the neck. As with ankle oedema this accumulation of fluid can represent the end point of several pathological processes, including heart failure. Fluid collecting behind the neck can be detected as nuchal translucency by ultrasound scanning, and it can be measured. The more fluid that has accumulated, the greater the risk of an abnormality being present. + In the fetus fluid collects behind the neck, much like it does in dependent ankle edema in later life. This occurs partly because of the tendency for the fetus to lie on its back and partly because of the laxity of the skin of the neck. As with ankle edema this accumulation of fluid can represent the end point of several pathological processes, including heart failure. Fluid collecting behind the neck can be detected as nuchal translucency by ultrasound scanning, and it can be measured. The more fluid that has accumulated, the greater the risk of an abnormality being present. Fetal nuchal edema @@ -588832,7 +590917,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Concentration of thymidine in the blood circulation above the normal range. 2022-05-28T21:37:32Z @@ -588845,7 +590990,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Concentration of 2-deoxyuridine in the blood circulation is above the normal range. 2022-05-28T21:43:40Z @@ -589115,7 +591320,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Concentration of tiglylglycine in the blood circulation above the upper limit of normal. 2022-07-03T13:57:59Z @@ -589431,7 +591696,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Elevated concentration of hexacosanoic acid (a C26 straight-chain saturated fatty acid) in the blood circulation. 2022-07-03T14:22:13Z @@ -589500,7 +591825,7 @@ - A congenitally anomalous enlarged optic disk (surface area greater than 2.50 square millimeters). It is considered to be a normal variant without physiological defects. + A congenitally anomalous enlarged optic disc (surface area greater than 2.50 square millimeters). It is considered to be a normal variant without physiological defects. 2022-07-03T14:38:18Z Megalopapilla @@ -589508,7 +591833,7 @@ - A congenitally anomalous enlarged optic disk (surface area greater than 2.50 square millimeters). It is considered to be a normal variant without physiological defects. + A congenitally anomalous enlarged optic disc (surface area greater than 2.50 square millimeters). It is considered to be a normal variant without physiological defects. PMID:31926369 @@ -589855,7 +592180,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Concentration of guanidinoacetic acid in the blood circulation is above the upper limit of normal. 2022-08-17T14:30:26Z @@ -589897,6 +592282,8 @@ Concentration of growth hormone in the blood circulation below normal limits. 2022-08-17T16:18:35Z + Growth hormone deficiency + Somatotropin deficiency Reduced circulating growth hormone concentration @@ -590962,7 +593349,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Increased concentration of biliverdin, a green tetrapyrrolic bile pigment, in the blood circulation. 2022-09-07T13:06:57Z @@ -591050,7 +593497,7 @@ - Hilar lymphadenopathy is swelling or enlargement of lymph nodes localised in hila, wedge-shaped anatomical structures containing pulmonary vessels, major bronchi, nerves and lymph nodes. Hilar lymph nodes are not visible on chest X-ray if they are not enlarged. Hilar lymph node enlargement can be caused by benign and malignant conditions and can be symmetrical (bilateral) or asymmetrical (unilateral). + Hilar lymphadenopathy is swelling or enlargement of lymph nodes localized in hila, wedge-shaped anatomical structures containing pulmonary vessels, major bronchi, nerves and lymph nodes. Hilar lymph nodes are not visible on chest X-ray if they are not enlarged. Hilar lymph node enlargement can be caused by benign and malignant conditions and can be symmetrical (bilateral) or asymmetrical (unilateral). 2022-09-26T18:39:43Z Hilar adenopathy @@ -591060,7 +593507,7 @@ - Hilar lymphadenopathy is swelling or enlargement of lymph nodes localised in hila, wedge-shaped anatomical structures containing pulmonary vessels, major bronchi, nerves and lymph nodes. Hilar lymph nodes are not visible on chest X-ray if they are not enlarged. Hilar lymph node enlargement can be caused by benign and malignant conditions and can be symmetrical (bilateral) or asymmetrical (unilateral). + Hilar lymphadenopathy is swelling or enlargement of lymph nodes localized in hila, wedge-shaped anatomical structures containing pulmonary vessels, major bronchi, nerves and lymph nodes. Hilar lymph nodes are not visible on chest X-ray if they are not enlarged. Hilar lymph node enlargement can be caused by benign and malignant conditions and can be symmetrical (bilateral) or asymmetrical (unilateral). @@ -591070,7 +593517,7 @@ - Pulmonary vein varix (PVV), refers to a localised dilatation of a pulmonary vein. PVV is a rare condition and can be congenital or acquired. PVV typically occur at the confluence of the veins adjacent to the left atrium. PVVs are sometimes classified into three morphological types: saccular, tortuous and confluent. + Pulmonary vein varix (PVV), refers to a localized dilatation of a pulmonary vein. PVV is a rare condition and can be congenital or acquired. PVV typically occur at the confluence of the veins adjacent to the left atrium. PVVs are sometimes classified into three morphological types: saccular, tortuous and confluent. 2022-09-26T18:41:44Z Pulmonary vein dilatation @@ -591079,7 +593526,7 @@ - Pulmonary vein varix (PVV), refers to a localised dilatation of a pulmonary vein. PVV is a rare condition and can be congenital or acquired. PVV typically occur at the confluence of the veins adjacent to the left atrium. PVVs are sometimes classified into three morphological types: saccular, tortuous and confluent. + Pulmonary vein varix (PVV), refers to a localized dilatation of a pulmonary vein. PVV is a rare condition and can be congenital or acquired. PVV typically occur at the confluence of the veins adjacent to the left atrium. PVVs are sometimes classified into three morphological types: saccular, tortuous and confluent. @@ -591647,7 +594094,7 @@ A type of tinnitus that presents as clicks, resembling the noise made by the snapping together of 2 fingers. 2022-11-12T12:34:55Z - Clicking tinnitus may be caused by conditions including palatal myoclonus, which is characterised by a rhythmic contraction of the palatal muscles including the levator veli palatini and the tensor palatini muscles. + Clicking tinnitus may be caused by conditions including palatal myoclonus, which is characterized by a rhythmic contraction of the palatal muscles including the levator veli palatini and the tensor palatini muscles. Clicking tinnitus @@ -592144,7 +594591,7 @@ - + An increased concentration of interleukin-18 in the blood circulation. 2022-11-26T14:13:53Z @@ -592381,7 +594828,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + An abnormally increased level of glutathione in the blood circulation. 2022-12-03T22:30:24Z @@ -592957,7 +595464,7 @@ - + A diminished concentration of interleukin-7 in the circulation. 2022-12-10T14:38:04Z @@ -592970,7 +595477,7 @@ - + An increased concentration of interleukin-12 in the blood circulation. 2022-12-10T14:39:46Z @@ -592983,7 +595490,7 @@ - + An increased concentration of interleukin-13 in the blood circulation. 2022-12-10T14:40:51Z @@ -592996,7 +595503,7 @@ - + An increased concentration of interleukin-2 in the blood circulation. 2022-12-10T14:41:47Z @@ -593009,7 +595516,7 @@ - + An increased concentration of interleukin-4 in the blood circulation. 2022-12-10T14:43:06Z @@ -593022,7 +595529,7 @@ - + An increased concentration of interleukin-5 in the blood circulation. 2022-12-10T14:43:18Z @@ -593439,7 +595946,7 @@ - + An elevation in the concentration of interferon alpha measured in the blood circulation. 2022-12-14T13:26:50Z @@ -593488,7 +595995,7 @@ 2022-12-14T13:53:23Z Ketogenic diet improves symptoms - The ketogenic diet is a method of nutrition leading to the increased production of ketone bodies (beta-hydroxybutyrate, acetoacetate and acetone) in the organism and, thus, to a condition of ketosis. This effect comes about by obtaining the greatest energy share from fats and minimising the consumption of carbohydrates. + The ketogenic diet is a method of nutrition leading to the increased production of ketone bodies (beta-hydroxybutyrate, acetoacetate and acetone) in the organism and, thus, to a condition of ketosis. This effect comes about by obtaining the greatest energy share from fats and minimizing the consumption of carbohydrates. Ameliorated by ketogenic diet @@ -593650,7 +596157,7 @@ - Reduced activity of phosphoglycerate kinase (PGK) in muscle tissue. PGK is a glycolytic enzyme that catalyses one of the two ATP-producing reactions in the glycolytic pathway, through the conversion of 1,3-bisphosphoglycerate to 3-phosphoglycerate. + Reduced activity of phosphoglycerate kinase (PGK) in muscle tissue. PGK is a glycolytic enzyme that catalyzes one of the two ATP-producing reactions in the glycolytic pathway, through the conversion of 1,3-bisphosphoglycerate to 3-phosphoglycerate. 2023-02-08T14:29:28Z Reduced muscle phosphoglycerate kinase activity @@ -593658,7 +596165,7 @@ - Reduced activity of phosphoglycerate kinase (PGK) in muscle tissue. PGK is a glycolytic enzyme that catalyses one of the two ATP-producing reactions in the glycolytic pathway, through the conversion of 1,3-bisphosphoglycerate to 3-phosphoglycerate. + Reduced activity of phosphoglycerate kinase (PGK) in muscle tissue. PGK is a glycolytic enzyme that catalyzes one of the two ATP-producing reactions in the glycolytic pathway, through the conversion of 1,3-bisphosphoglycerate to 3-phosphoglycerate. PMID:8998855 @@ -594341,6 +596848,12 @@ A developmental anomaloy characterized by congenital excavation of the optic nerve head. PMID:27847606 + + + + Optic disc pit + + @@ -594670,7 +597183,7 @@ - Crypt hyperplasia denotes elongation of the length of the crypts of Lieberkuhn, a process that initially precedes villous atrophy. Elongation may be caused by expansion of the lamina propria as a result of the proliferation of stromal cells, an influx of inflammatory cells and tissue remodelling. + Crypt hyperplasia denotes elongation of the length of the crypts of Lieberkuhn, a process that initially precedes villous atrophy. Elongation may be caused by expansion of the lamina propria as a result of the proliferation of stromal cells, an influx of inflammatory cells and tissue remodeling. 2023-03-12T13:52:40Z Crypt hyperplasia @@ -594678,7 +597191,7 @@ - Crypt hyperplasia denotes elongation of the length of the crypts of Lieberkuhn, a process that initially precedes villous atrophy. Elongation may be caused by expansion of the lamina propria as a result of the proliferation of stromal cells, an influx of inflammatory cells and tissue remodelling. + Crypt hyperplasia denotes elongation of the length of the crypts of Lieberkuhn, a process that initially precedes villous atrophy. Elongation may be caused by expansion of the lamina propria as a result of the proliferation of stromal cells, an influx of inflammatory cells and tissue remodeling. PMID:17021129 @@ -594804,7 +597317,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + An increased concentration of dihydrouracil in the blood circulation. Dihydrouracil is an intermediate in the catabolism of uracil that is also known as 5,6-dihydrouracil. 2023-03-12T14:21:43Z @@ -594818,7 +597391,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + An increased concentration of dihydrothymine in the blood circulation. Dihydrouracil is an intermediate in the catabolism of thymine. 2023-03-12T14:25:03Z @@ -594870,7 +597503,7 @@ - + An increased amount of creatine in the urine. 2023-03-12T14:45:24Z @@ -594962,7 +597595,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Concentration of DOPA (3,4-dihydroxyphenylalanine) in the blood circulation above the upper limit of normal. 2023-03-12T18:33:02Z @@ -594989,7 +597682,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Concentration of porphyrins or of a specific porphryin above the upper limit of normal. The most commonly tested circulating porphyrins are coproporphyrin, protoporphyrin, and uroporphyrin. Normally protoporphyrin is present in the highest concentration. 2023-03-12T18:39:52Z @@ -595059,7 +597812,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Concentration of arabinitol in the blood circulation above the upper limit of normal. 2023-03-13T11:35:06Z @@ -595261,7 +598074,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Concentration of S-adenosyl methionine (SAM) in the blood circulation above the upper limit of normal. SAM is a cosubstrate involved in methyl group transfers, transsulfuration, and aminopropylation. 2023-03-13T12:35:12Z @@ -595776,12 +598649,21 @@ - Amoutn of N-acetylaspartate high in the urine above upper limit of normal. + The amount of N-acetylaspartate in the urine, when corrected for urine concentration, is above upper limit of normal. This feature can be measured using gas chromatography-mass spectrometry. 2023-03-21T11:50:13Z + HP:0032272 + Elevated urinary N-acetylaspartic acid level N-acetylaspartate high in urine + Although NAA concentration is also elevated in the blood and cerebrospinal fluid (CSF) of children with neonatal/infantile (severe) Canavan disease, elevated concentration of NAA in urine is sufficient for diagnosis of affected individuals. Elevated urine N-acetylaspartic acid level + + + + The amount of N-acetylaspartate in the urine, when corrected for urine concentration, is above upper limit of normal. This feature can be measured using gas chromatography-mass spectrometry. + PMID:8412017 + @@ -596539,7 +599421,7 @@ - Diminished activity of the enzyme Short-chain acyl-CoA dehydrogenase (SCAD), a key enzyme of fatty acid beta-oxidation that catalyses the first step in mitochondrial beta-oxidation of fatty acids. + Diminished activity of the enzyme Short-chain acyl-CoA dehydrogenase (SCAD), a key enzyme of fatty acid beta-oxidation that catalyzes the first step in mitochondrial beta-oxidation of fatty acids. 2023-03-26T18:24:12Z Reduced short-chain acyl-CoA dehydrogenase activity @@ -596547,7 +599429,7 @@ - Diminished activity of the enzyme Short-chain acyl-CoA dehydrogenase (SCAD), a key enzyme of fatty acid beta-oxidation that catalyses the first step in mitochondrial beta-oxidation of fatty acids. + Diminished activity of the enzyme Short-chain acyl-CoA dehydrogenase (SCAD), a key enzyme of fatty acid beta-oxidation that catalyzes the first step in mitochondrial beta-oxidation of fatty acids. PMID:26989860 @@ -597127,7 +600009,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Increased concentration of S-adenosyl-L-homocysteine in the blood circulation. 2023-04-21T21:49:05Z @@ -597146,7 +600088,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Concentration S-adenosyl-L-methionine in the blood circulation above the upper limit of normal. 2023-04-21T21:50:51Z @@ -597220,7 +600222,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Concentration of alpha-oxoadipic acid in the blood above the upper limit of normal. 2023-05-07T17:53:27Z @@ -597289,7 +600351,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Concentration of homoarginine in the blood circulation above the upper limit of normal. 2023-05-07T18:04:55Z @@ -597340,7 +600462,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Concentration of S-sulfocysteine in the blood circulation above the upper limit of normal. 2023-05-07T18:24:17Z @@ -598239,7 +601421,7 @@ Attacks of breathlessness that occur at night and may awaken the sleeping patient. 2023-07-01T11:11:31Z - Paroxysmal nocturnal dyspnoea + Paroxysmal nocturnal dyspnea Paroxysmal nocturnal dyspnea @@ -599000,7 +602182,7 @@ - Concentration or activity of an enzyme as measured in leukocytes is above or below the limits of normal in the blood circulation. + Concentration or activity of an enzyme as measured in leukocytes is above or below the limits of normal. 2023-07-08T15:40:32Z Abnormal leukocyte enzyme concentration or activity @@ -599147,7 +602329,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Concentration of porphyrin in erythrocytes below the lower limit of normal. 2023-07-08T17:18:13Z @@ -600159,7 +603401,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Concentration of 7-dehydrocholesterol in the blood circulation outside the limits of normal. 2023-07-09T21:28:49Z @@ -600171,7 +603473,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Concentration of 7-dehydrocholesterol in the blood circulation below the lower limit of normal. 2023-07-09T21:31:39Z @@ -600183,7 +603545,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Concentration of lathosterol in the blood circulation above the upper limit of normal. 2023-07-09T21:33:55Z @@ -600379,7 +603801,7 @@ - Tubular shadows are characterised by a complete absence of cells in the testicular tubules, meaning that germ cells as well as somatic Sertoli cells are absent. The cells have been replaced by hyalinization. + Tubular shadows are characterized by a complete absence of cells in the testicular tubules, meaning that germ cells as well as somatic Sertoli cells are absent. The cells have been replaced by hyalinization. 2023-07-10T11:23:34Z @@ -600411,7 +603833,7 @@ - The fibrous sheath is a structure in the midpiece of the sperm flagellum surrounding the outer dense fibers. It comprises two longitudinal columns and tranverse ribs. In case of altered location of the longitudinal column in the fibrous sheath the symmetrical structure is lost, most commonly with the columns not being opposite to each other, which can be visualised by electron microscopy. + The fibrous sheath is a structure in the midpiece of the sperm flagellum surrounding the outer dense fibers. It comprises two longitudinal columns and tranverse ribs. In case of altered location of the longitudinal column in the fibrous sheath the symmetrical structure is lost, most commonly with the columns not being opposite to each other, which can be visualized by electron microscopy. 2023-07-10T11:39:59Z Altered location of the longitudinal column in the fibrous sheath @@ -600960,7 +604382,7 @@ Loss of sensation to the area of buttocks, perianal space and thighs. 2023-07-16T13:02:39Z - This feature may be observed with cauda equina syndrome as a collection of acute symptoms mostly occurring secondary to a large disc herniations leading to neuropathy of multiple lumbar and sacral nerve roots, or with spinal epidural abscess. + This feature may be observed with cauda equina syndrome as a collection of acute symptoms mostly occurring secondary to a large disk herniations leading to neuropathy of multiple lumbar and sacral nerve roots, or with spinal epidural abscess. Perianal anethesia @@ -601122,11 +604544,13 @@ - - Activity of fructose-1,6-bisphosphatase (EC 3.1.3.11) in the liver below the lower limit of normal. + + Activity of fructose-1,6-bisphosphatase (EC 3.1.3.11) below the lower limit of normal. The activity can be measured in multiple tissues including liver and leukocytes. 2023-07-19T11:29:47Z - Reduced hepatic fructose-1,6-bisphosphatase activity + Reduced hepatic fructose-1,6-bisphosphatase activity + Reduced leukocyte fructose-1,6-bisphosphatase activity + Reduced tissue fructose-1,6-bisphosphatase activity @@ -604346,7 +607770,7 @@ - + @@ -604371,7 +607795,7 @@ UMLS:C4021858 Abnormality of nasal hair Abnormality of nose hair - Abnormality of nasal hair + Abnormal nasal hair morphology @@ -606526,9 +609950,11 @@ + The concentration of iron in the blood circulation is outside the limits of normal. UMLS:C0235760 - Abnormal serum iron concentration + Abnormal serum iron concentration + Abnormal circulating iron concentration @@ -606913,18 +610339,19 @@ - Decreased level of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate. + Activity or concentration of 5-oxoprolinase in the blood circulation below the lower limit of normal. This enzyme catalyzes the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate. MSH:C535322 SNOMEDCT_US:26132002 UMLS:C0268525 5-oxoprolinase deficiency - Reduced 5-oxoprolinase level + Reduced 5-oxoprolinase level + Reduced circulating 5-oxoprolinase activity - Decreased level of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate. + Activity or concentration of 5-oxoprolinase in the blood circulation below the lower limit of normal. This enzyme catalyzes the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate. PMID:6790862 @@ -607222,7 +610649,7 @@ - The presence of woolly hair on the scalp. The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. + The presence of wooly hair on the scalp. The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. Nappy scalp hair texture UMLS:C4015203 @@ -607237,7 +610664,7 @@ - The presence of woolly hair on the scalp. The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. + The presence of wooly hair on the scalp. The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. PMID:20464096 @@ -607770,9 +611197,9 @@ - + - + Inflammation of the periosteum MSH:D010522 SNOMEDCT_US:41910004 @@ -607780,7 +611207,7 @@ Periostalgia Periostitis - + @@ -607811,7 +611238,7 @@ - + @@ -608699,9 +612126,16 @@ SNOMEDCT_US:253008000 SNOMEDCT_US:74926005 UMLS:C0003650 + amine precursor uptake and decarboxylation tumors amine precursor uptake and decarboxylation tumours APUdoma + + + + amine precursor uptake and decarboxylation tumours + + @@ -611496,7 +614930,7 @@ A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord. UMLS:C4280684 - Seen in a wide-ranging variety of spinal cord processes including; simple MR artefacts, congenital anomalies etc. Characterization of the abnormal areas of T2 signal as well as their appearance on other MR imaging sequences, when combined with clinical context and laboratory investigations, will often allow a unique diagnosis, or at least aid in narrowing the differential diagnosis. + Seen in a wide-ranging variety of spinal cord processes including; simple MR artifacts, congenital anomalies etc. Characterization of the abnormal areas of T2 signal as well as their appearance on other MR imaging sequences, when combined with clinical context and laboratory investigations, will often allow a unique diagnosis, or at least aid in narrowing the differential diagnosis. Hyperintensity of MRI T2 signal of the spinal cord @@ -611508,7 +614942,7 @@ - Seen in a wide-ranging variety of spinal cord processes including; simple MR artefacts, congenital anomalies etc. Characterization of the abnormal areas of T2 signal as well as their appearance on other MR imaging sequences, when combined with clinical context and laboratory investigations, will often allow a unique diagnosis, or at least aid in narrowing the differential diagnosis. + Seen in a wide-ranging variety of spinal cord processes including; simple MR artifacts, congenital anomalies etc. Characterization of the abnormal areas of T2 signal as well as their appearance on other MR imaging sequences, when combined with clinical context and laboratory investigations, will often allow a unique diagnosis, or at least aid in narrowing the differential diagnosis. PMID:19527360 @@ -612376,9 +615810,19 @@ + The concentration of iron in the blood circulation is below the lower limit of normal. + Decreased serum iron + Hypoferremia Low serum iron - Decreased serum iron + Decreased circulating iron concentration + + + + The concentration of iron in the blood circulation is below the lower limit of normal. + PMID:36197985 + PMID:36816471 + @@ -613912,7 +617356,7 @@ A developmental defect characterized by the absence of the putamen owing to its failure to develop. - The basal ganglia are symmetrical subcortical grey nuclei at the core of the extrapyramidal system, composed by the striatum (which comprises the putamen, caudate nucleus, olfactory tubercle, and nucleus accumbens), the pallidum, the substantia nigra, and the subthalamic nucleus. Congenital malformations of the basal ganglia deriving from defects of embryogenesis are very rare. The basal ganglia embryologically derive from the prosencephalon (or forebrain), the most rostral of the three vesicles originating from early patterning of the neural tube along the anterior-posterior axis. + The basal ganglia are symmetrical subcortical gray nuclei at the core of the extrapyramidal system, composed by the striatum (which comprises the putamen, caudate nucleus, olfactory tubercle, and nucleus accumbens), the pallidum, the substantia nigra, and the subthalamic nucleus. Congenital malformations of the basal ganglia deriving from defects of embryogenesis are very rare. The basal ganglia embryologically derive from the prosencephalon (or forebrain), the most rostral of the three vesicles originating from early patterning of the neural tube along the anterior-posterior axis. Agenesis of putamen @@ -621714,7 +625158,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Concentration of acylcarnitine in the blood circulation above the upper limit of normal. UMLS:C4073171 @@ -623282,6 +626786,12 @@ A benign nerve sheath tumor composed of Schwann cells. + + + + Schwann cell tumour + + @@ -623713,7 +627223,7 @@ - Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems. + Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems. 2010-05-28T11:46:16Z MSH:D002547 @@ -623727,7 +627237,7 @@ - Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems. + Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems. @@ -640987,7 +644497,7 @@ - Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations. + Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localized unilateral in the skin of the forearm and associated with ipsilateral hand malformations. 2010-06-29T11:18:12Z UMLS:C4022182 @@ -640998,7 +644508,7 @@ - Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations. + Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localized unilateral in the skin of the forearm and associated with ipsilateral hand malformations. @@ -642218,7 +645728,7 @@ - Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal. + Gustatory lacrimation results from an aberrant innervation of fibers from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal. 2010-07-29T11:59:06Z UMLS:C1862052 @@ -642229,7 +645739,7 @@ - Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal. + Gustatory lacrimation results from an aberrant innervation of fibers from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal. @@ -642755,6 +646265,12 @@ Muscle hypertrophy can be assessed at the whole-muscle level (macroscopic methods) or the muscle fiber level (microscopic methods). This term refers to hypertrophy assessed at the microscopic level. Hypertrophied muscle fibers + + + + Muscle fibre hypertrophy + + @@ -642807,8 +646323,8 @@ HP:0100294 SNOMEDCT_US:67867005 UMLS:C0333751 + Muscle fiber atrophy Muscle fiber degeneration - Muscle fibre atrophy Muscle fibre degeneration HP:0100295 Muscle fiber atrophy @@ -643665,7 +647181,7 @@ - Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens. + Immunological states where the immune system produces harmful responses upon reexposure to sensitizing antigens. 2010-09-16T06:00:43Z UMLS:C0237653 @@ -643675,7 +647191,7 @@ - Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens. + Immunological states where the immune system produces harmful responses upon reexposure to sensitizing antigens. https://www.st-andrews.ac.uk/~gdk/bl4217web/Gp3%20Ref%20list/hypersensitivity%20printed.pdf @@ -643920,6 +647436,7 @@ Nonmidline cleft palate on the left and right sides. 2010-10-13T04:16:32Z + HP:0002744 UMLS:C3553084 Bilateral palatoschisis Right and left cleft palate @@ -654248,10 +657765,10 @@ - + - + Inflammation of fascia, the tissue under the skin and over the muscle. 2010-12-20T05:59:18Z @@ -654262,7 +657779,7 @@ HP:0100537 Fasciitis - + @@ -654293,7 +657810,7 @@ - + @@ -657205,7 +660722,7 @@ Excess fluid in lungs Lung edema Lung oedema - Pulmonary oedema + Pulmonary edema Wet lung HP:0100598 Pulmonary edema @@ -658769,7 +662286,6 @@ 2010-12-29T05:59:15Z UMLS:C4020960 Abnormality of nail color - Abnormality of nail colour Nail dyschromia HP:0100643 Abnormality of nail color @@ -658786,12 +662302,6 @@ Abnormality of nail color - - - - Abnormality of nail colour - - @@ -659618,6 +663128,7 @@ SNOMEDCT_US:400075008 SNOMEDCT_US:41291007 UMLS:C0002994 + Angioneurotic edema Angioneurotic oedema Angiooedema Quincke edema @@ -659632,6 +663143,12 @@ Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis. + + + + Angioneurotic oedema + + @@ -660313,7 +663830,7 @@ - An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone. + An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibers connecting periosteum to bone. 2010-12-30T02:25:32Z UMLS:C4020701 @@ -660328,7 +663845,7 @@ - An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone. + An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibers connecting periosteum to bone. @@ -661541,7 +665058,6 @@ Self-harm Self-injurious behavior Self-injurious behaviors - Self-injurious behaviour Self-injurious behaviours HP:0100716 All of these actions can be impulsive, compulsive, or planned. @@ -661556,8 +665072,8 @@ - Self-injurious behaviour - + Self-injurious behaviours + @@ -665205,7 +668721,7 @@ MEDDRA:10006326 - Breath odour + Breath odor @@ -665938,7 +669454,7 @@ - Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent. + Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humor, which is normally transparent. 2011-06-09T05:58:09Z SNOMEDCT_US:15013002 @@ -665963,7 +669479,7 @@ - Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent. + Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humor, which is normally transparent. @@ -666645,6 +670161,7 @@ 2011-06-23T11:07:13Z UMLS:C4020949 Abnormal emotion processing + Abnormal emotion/affect behavior Abnormal emotion/affect behaviour Abnormal mood/emotion/affect Abnormal mood/emotion/affect/thought @@ -666652,6 +670169,12 @@ HP:0100851 Abnormal emotion + + + + Abnormal emotion/affect behaviour + + @@ -666711,7 +670234,7 @@ 2011-06-23T11:13:16Z HP:0001296 UMLS:C4018849 - Abnormal fear-induced behaviour + Abnormal fear-induced behavior Abnormal fear/anxiety-related behavior Abnormal fear/anxiety-related behaviour HP:0100852 @@ -673786,6 +677309,7 @@ + Atypically high degree of awkwardness or apprehension experienced when approaching or being approached by others. @@ -673799,8 +677323,7 @@ UMLS:C0037020 Shyness HP:0100962 - I'm not keen on this one. It makes sense that it's connected to a lot of literature, but there is no consistent definition. I'm unsure where to place it in the hierarchy. - Shyness + Excessive shyness @@ -679118,7 +682641,7 @@ Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylamine (TMA) in the urine, sweat, and breath of affected individuals. - Fish odour + Fish odor Fishy body odor Fishy body odour Fishy odor @@ -679134,7 +682657,7 @@ - Fish odour + Fish odor @@ -679170,7 +682693,6 @@ Pungent body odor. Musty odor - Musty odour Musty odor @@ -679179,12 +682701,6 @@ Musty odor - - - - Musty odour - - @@ -679194,7 +682710,6 @@ A fish odor in the vaginal area, that is characteristic of bacterial vaginosis (BV), and is due to trimethylamine (TMA). Vaginal fish odor - Vaginal fish odour Vaginal fish odor @@ -679209,12 +682724,6 @@ Vaginal fish odor - - - - Vaginal fish odour - - @@ -682015,7 +685524,7 @@ 2018-03-13T04:36:03Z Eosinophilic esophagitis - Eosinophilic infiltration of the oesophagus + Eosinophilic infiltration of the esophagus Eosinophilic infiltration of the esophagus @@ -682036,7 +685545,7 @@ Eosinophilic micro-abscess formation in the esophagus Eosinophilic micro-abscess formation in the oesophagus - Eosinophilic microabscess formation in the oesophagus + Eosinophilic microabscess formation in the esophagus Eosinophilic microabscess formation in the esophagus @@ -684005,52 +687514,9 @@ - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - An abnormality in uridine diphosphate glucose-4-epimerase level, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose. - 2018-05-21T18:22:02Z - - Abnormal UDP-glucose 4-epimerase level - Abnormal uridine diphosphate glucose-4-epimerase level + HP:0410193 + obsolete Abnormal uridine diphosphate glucose-4-epimerase level + true @@ -684088,7 +687554,7 @@ - + @@ -684122,8 +687588,11 @@ An abnormality in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. 2018-05-21T18:23:41Z + HP:0410192 Abnormal UDP-glucose 4-epimerase activity level in plasma - Abnormal uridine diphosphate glucose-4-epimerase level in plasma + Abnormal circulating uridine diphosphate glucose-4-epimerase concentration + Abnormal uridine diphosphate glucose-4-epimerase level in plasma + Abnormal circulating UDP glucose-4-epimerase concentration @@ -684196,7 +687665,9 @@ 2018-05-21T18:23:47Z Increased UDP-glucose 4-epimerase level in plasma - Increased uridine diphosphate glucose-4-epimerase level in plasma + Increased circulating uridine diphosphate glucose-4-epimerase concentration + Increased uridine diphosphate glucose-4-epimerase level in plasma + Increased circulating UDP glucose-4-epimerase concentration @@ -684268,8 +687739,11 @@ A decrease in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. 2018-05-21T18:23:54Z + Decreased UDP glucose-4-epimerase level in plasma Decreased UDP-glucose 4-epimerase level in plasma - Decreased uridine diphosphate glucose-4-epimerase level in plasma + Decreased circulating uridine diphosphate glucose-4-epimerase concentration + Decreased uridine diphosphate glucose-4-epimerase level in plasma + Decreased circulating UDP glucose-4-epimerase concentration @@ -684307,7 +687781,7 @@ - + @@ -684343,7 +687817,9 @@ Abnormal UDP-glucose 4-epimerase level in RBCs Abnormal UDP-glucose 4-epimerase level in red blood cells - Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells + Abnormal erythrocyte uridine diphosphate glucose-4-epimerase concentration + Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells + Abnormal erythrocyte UDP glucose-4-epimerase concentration @@ -684429,7 +687905,8 @@ Increased UDP-glucose 4-epimerase level in RBCs Increased UDP-glucose 4-epimerase level in red blood cells - Increased uridine diphosphate glucose-4-epimerase level in red blood cells + Increased uridine diphosphate glucose-4-epimerase level in red blood cells + Increased erythrocyte UDP glucose-4-epimerase concentration @@ -684515,7 +687992,9 @@ Decreased UDP-glucose 4-epimerase level in RBCs Decreased UDP-glucose 4-epimerase level in red blood cells - Decreased uridine diphosphate glucose-4-epimerase level in red blood cells + Decreased erythrocyte uridine diphosphate glucose-4-epimerase concentration + Decreased uridine diphosphate glucose-4-epimerase level in red blood cells + Decreased erythrocyte UDP glucose-4-epimerase concentration @@ -684721,7 +688200,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any deviation from the normal concentration of nicotinurate in the blood. 2018-09-11T23:40:08Z @@ -684742,7 +688281,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + An increased amount of nicotinurate in the blood. 2018-09-11T23:40:36Z @@ -692139,9 +695738,9 @@ - + - + Lack of formation of the palatine bone. UMLS:C4021867 Absence of palatine bone calcification @@ -692149,7 +695748,7 @@ Absence of palatine bone formation Absent palatine bone ossification - + @@ -692180,7 +695779,7 @@ - + @@ -693045,7 +696644,7 @@ Any kind of test for an infectious agent in a specimen positive. 2023-12-02T09:27:51Z - Positive infectious agent test + Positive infectious agent test @@ -693058,7 +696657,7 @@ 2023-12-02T09:29:24Z This finding is generally assessed by polymerase chain reaction (PCR) testing of aqueous humor obtained from the anterior chamber of the eye by an aqueous humor tap. - Aqueous humor viral DNA positivity + Aqueous humor viral DNA positivity @@ -693072,7 +696671,7 @@ 2023-12-02T09:33:58Z Electronic cigarette or vape use Vaping - Electronic cigarette exposure history + Electronic cigarette exposure history @@ -693084,7 +696683,7 @@ Erythematous macules or patches over extensor surfaces of elbows, knuckles, knees, and ankles. 2023-12-02T09:52:52Z - Gottron sign + Gottron sign @@ -693105,7 +696704,7 @@ 2023-12-02T10:00:05Z Resistant hypertension - Hypertension resistant to conventional therapy + Hypertension resistant to conventional therapy @@ -693125,7 +696724,7 @@ 2023-12-02T10:03:33Z Calcification of the interosseous membrane of leg Calcification of the middle tibiofibular joint - Tibiofibular interosseous membrane calcification + Tibiofibular interosseous membrane calcification @@ -693143,7 +696742,7 @@ A type of elbow fracture that involves the distal humerus just above the elbow. 2023-12-11T13:59:39Z - Supracondylar elbow fracture + Supracondylar elbow fracture @@ -693161,7 +696760,7 @@ Alcohol abuse or dependence. 2023-12-14T15:41:54Z - Abnormal alcohol consumption + Abnormal alcohol consumption @@ -693179,7 +696778,7 @@ Thoracic lordosis refers to an abnormal curvature of the thoracic spine in which the thoracic spine displays lordosis (inward curve) instead of the normal kyphosis (outward curve). 2024-01-06T09:37:42Z - Thoracic lordosis + Thoracic lordosis @@ -693197,7 +696796,7 @@ Refers to pain or discomfort that is perceived to travel from the chest into the left arm. 2024-01-06T09:39:29Z - Radiation into left arm + Radiation into left arm @@ -693209,7 +696808,7 @@ Refers to pain or discomfort that is perceived to travel from the chest into the right arm. 2024-01-06T09:40:24Z - Radiation into right arm + Radiation into right arm @@ -693222,7 +696821,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-01-07T09:36:17Z - Small joint hypermobilty + Small joint hypermobilty @@ -693234,7 +696833,7 @@ second to fifth metatarsophalangeal joints, and wrists. The capability that a large joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Large joints include shoulders, elbows, hips, knees, and ankles. 2024-01-07T09:39:20Z - Large joint hypermobilty + Large joint hypermobilty @@ -693249,7 +696848,7 @@ second to fifth metatarsophalangeal joints, and wrists. Intracranial calcifications Brain calcification pineal gland, choroid plexus, habenula, falx cerebri and tentorium cerebelli - Intracranial calcification + Intracranial calcification @@ -693274,7 +696873,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-01-27T11:12:40Z Antithyroid antibody positivity - Anti-thyroid antibody positivity + Anti-thyroid antibody positivity @@ -693282,11 +696881,11 @@ second to fifth metatarsophalangeal joints, and wrists. - + Positive serology for a exposure to an infectious agent (i.e., examining serum for the presence of pathogen-specific antibodies). 2024-01-27T11:45:14Z - Positive bloodstream pathogen-specific antibody positivity + Positive bloodstream pathogen-specific antibody positivity @@ -693304,7 +696903,7 @@ second to fifth metatarsophalangeal joints, and wrists. The presence of antibodies in the blood circulation that react against a component of the severe acute respiratory syndrome coronavirus type 2 (SARS-CoV-2). 2024-01-27T11:47:34Z - Anti-SARS-CoV-2 coronavirus antibody positivity + Anti-SARS-CoV-2 coronavirus antibody positivity @@ -693316,7 +696915,7 @@ second to fifth metatarsophalangeal joints, and wrists. The presence of antibodies in the blood circulation that react against a component of the West Nile virus. 2024-01-27T11:49:46Z - Anti-West Nile virus antibody positivity + Anti-West Nile virus antibody positivity @@ -693328,7 +696927,7 @@ second to fifth metatarsophalangeal joints, and wrists. The presence of antibodies in the blood circulation that react against a component of a microfilaria (parasite). 2024-01-27T11:51:10Z - Anti-microfilaria antibody positivity + Anti-microfilaria antibody positivity @@ -693346,7 +696945,7 @@ second to fifth metatarsophalangeal joints, and wrists. The presence of antibodies in the blood circulation that react against a component of trypanosoma cruzi. 2024-01-27T11:53:19Z - Anti-trypanosoma cruzi antibody positivity + Anti-trypanosoma cruzi antibody positivity @@ -693358,7 +696957,7 @@ second to fifth metatarsophalangeal joints, and wrists. The presence of antibodies in the blood circulation that react against a component of chikungunya virus. 2024-01-27T11:54:58Z - Anti-chikungunya virus antibody positivity + Anti-chikungunya virus antibody positivity @@ -693376,7 +696975,7 @@ second to fifth metatarsophalangeal joints, and wrists. The presence of antibodies in the blood circulation that react against a component of chlamydia psittaci. 2024-01-27T11:56:37Z - Anti-chlamydia psittaci antibody positivity + Anti-chlamydia psittaci antibody positivity @@ -693389,7 +696988,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-01-27T11:58:24Z HSV antibody titer high in blood - Anti-herpes simplex antibody positivity + Anti-herpes simplex antibody positivity @@ -693401,7 +697000,7 @@ second to fifth metatarsophalangeal joints, and wrists. The presence of antibodies in the blood circulation that react against a virus. 2024-01-27T11:59:43Z - Positive bloodstream virus-specific antibody positivity + Positive bloodstream virus-specific antibody positivity @@ -693413,7 +697012,7 @@ second to fifth metatarsophalangeal joints, and wrists. The presence of antibodies in the blood circulation that react against a parasite. 2024-01-27T12:00:43Z - Positive bloodstream parasite-specific antibody positivity + Positive bloodstream parasite-specific antibody positivity @@ -693425,7 +697024,7 @@ second to fifth metatarsophalangeal joints, and wrists. The presence of antibodies in the blood circulation that react against a bacterium. 2024-01-27T12:02:26Z - Positive bloodstream antibacterial antibody positivity + Positive bloodstream antibacterial antibody positivity @@ -693437,7 +697036,7 @@ second to fifth metatarsophalangeal joints, and wrists. The presence of antibodies in the blood circulation that react against a component of the Japanese encephalitis virus. 2024-01-27T12:03:45Z - Anti-Japanese encephalitis virus-specific antibody positivity + Anti-Japanese encephalitis virus-specific antibody positivity @@ -693449,7 +697048,7 @@ second to fifth metatarsophalangeal joints, and wrists. The presence of antibodies in the blood circulation that react against a component of chlamydia trachomatis. 2024-01-27T12:06:11Z - Anti-chlamydia trachomatis-specific antibody positivity + Anti-chlamydia trachomatis-specific antibody positivity @@ -693461,7 +697060,7 @@ second to fifth metatarsophalangeal joints, and wrists. The presence of antibodies in the blood circulation that react against a component of the Epstein Barr virus (EBV). 2024-01-27T12:07:23Z - Anti-Epstein-Barr virus-specific antibody positivity + Anti-Epstein-Barr virus-specific antibody positivity @@ -693473,7 +697072,7 @@ second to fifth metatarsophalangeal joints, and wrists. The presence of antibodies in the blood circulation that react against a component of a parasite of the genus Babesia (parasite). 2024-01-27T12:10:01Z - Anti-babesia-specific antibody positivity + Anti-babesia-specific antibody positivity @@ -693485,7 +697084,7 @@ second to fifth metatarsophalangeal joints, and wrists. The presence of antibodies in the blood circulation that react against a component of the Zika virus. 2024-01-27T12:12:00Z - Anti-Zikavirus-specific antibody positivity + Anti-Zikavirus-specific antibody positivity @@ -693499,11 +697098,11 @@ second to fifth metatarsophalangeal joints, and wrists. - + Positive (abnormal) result of a test such as polymerase chain reaction that is targeted against a nucleic acid sequence specific for a pathogen. 2024-01-27T12:14:15Z - Positive bloodstream nucleic acid pathogen test + Positive bloodstream nucleic acid pathogen test @@ -693515,7 +697114,7 @@ second to fifth metatarsophalangeal joints, and wrists. Detection of nucleic acid of a microfilarial parasite in the blood circulation. 2024-01-27T12:15:19Z - Positive microfilaria PCR test in the blood circulation + Positive microfilaria PCR test in the blood circulation @@ -693528,7 +697127,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-01-27T12:19:57Z JC virus PCR in blood positive - Positive JC-virus PCR test in the blood circulation + Positive JC-virus PCR test in the blood circulation @@ -693542,7 +697141,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-01-27T12:48:54Z Placenta praevia Placenta previa is the complete or partial covering of the internal os of the cervix with the placenta. It is a major risk factor for postpartum hemorrhage and can lead to morbidity and mortality of the mother and neonate. - Placenta previa + Placenta previa @@ -693620,7 +697219,7 @@ second to fifth metatarsophalangeal joints, and wrists. Any deviation of the concentration of an orrganic compound from the normal range. An organic compound is defined as any compound that contains a carbon atom. 2024-01-30T05:58:49Z - Abnormal circulating organic compound concentration + Abnormal circulating organic compound concentration @@ -693692,7 +697291,7 @@ second to fifth metatarsophalangeal joints, and wrists. Any deviation of the concentration of beta-carotene in the blood circulation from the normal range. 2024-01-30T06:01:12Z - Abnormal circulating beta-carotene concentration + Abnormal circulating beta-carotene concentration @@ -693764,7 +697363,7 @@ second to fifth metatarsophalangeal joints, and wrists. The concentration of beta-carotene in the blood circulation is below the lower limit of normal. 2024-01-30T06:01:59Z - Decreased circulating beta-carotene concentration + Decreased circulating beta-carotene concentration @@ -693836,7 +697435,7 @@ second to fifth metatarsophalangeal joints, and wrists. The concentration of beta-carotene in the blood circulation is above the upper limit of normal. 2024-01-30T06:02:06Z - Increased circulating beta-carotene concentration + Increased circulating beta-carotene concentration @@ -693850,7 +697449,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-02-04T07:18:17Z Galactocele Lactation duct obstruction - Mammary blocked duct + Mammary blocked duct @@ -693868,7 +697467,7 @@ second to fifth metatarsophalangeal joints, and wrists. The presence of antibodies in the blood circulation that react against a fungus. 2024-02-04T07:24:05Z - Positive bloodstream antifungal antibody positivity + Positive bloodstream antifungal antibody positivity @@ -693881,7 +697480,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-02-04T07:24:48Z Coccidioidal antibodies present in blood - Anti-coccidioidal antibody positivity + Anti-coccidioidal antibody positivity @@ -693893,7 +697492,7 @@ second to fifth metatarsophalangeal joints, and wrists. The presence of antibodies in the blood circulation that react against a component of a fungus of the Cryptoccous genus. 2024-02-04T07:27:30Z - Anti-cryptococcal antibody positivity + Anti-cryptococcal antibody positivity @@ -693906,7 +697505,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-02-04T07:28:52Z Mycoplasma is a term used to refer to any of the members of the class Mollicutes which include Mycoplasma and Ureaplasma. - Anti-mycoplasma antibody positivity + Anti-mycoplasma antibody positivity @@ -693924,7 +697523,7 @@ second to fifth metatarsophalangeal joints, and wrists. The presence of antibodies in the blood circulation that react against a component of a rickettsial bacterium. Rickettsiae are gram-negative bacteria with an obligate intracellular life cycle circulating between mammalian hosts and hematophagous arthropod vectors 2024-02-04T07:31:30Z - Anti-rickettsial antibody positivity + Anti-rickettsial antibody positivity @@ -693943,7 +697542,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-02-04T07:36:23Z Bartonella henselae antibody titer high in blood - Anti-Bartonella henselae antibody positivity + Anti-Bartonella henselae antibody positivity @@ -693956,7 +697555,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-02-04T08:37:01Z Dengue antibody titer high in blood - Anti-Dengue virus antibody positivity + Anti-Dengue virus antibody positivity @@ -693968,7 +697567,7 @@ second to fifth metatarsophalangeal joints, and wrists. The presence of antibodies in the blood circulation that react against a component of an Arbovirus. 2024-02-04T08:38:26Z - Anti-arbovirus antibody positivity + Anti-arbovirus antibody positivity @@ -693981,7 +697580,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-02-04T08:39:51Z Lymphocytic choriomeningitis virus antibody titer high in blood - Anti-lymphocytic choriomeningitis antibody positivity + Anti-lymphocytic choriomeningitis antibody positivity @@ -694000,7 +697599,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-02-04T08:41:49Z Varicella-zoster antibody titer high in blood - Anti-varicella-zoster antibody positivity + Anti-varicella-zoster antibody positivity @@ -694013,7 +697612,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-02-04T08:44:56Z Rubella antibody titer high in blood - Anti-rubella antibody positivity + Anti-rubella antibody positivity @@ -694032,7 +697631,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-02-04T08:48:25Z CMV antibody titer high in blood - Anti-cytomegalovirus antibody positivity + Anti-cytomegalovirus antibody positivity @@ -694045,7 +697644,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-02-04T08:50:09Z Measles antibody titer high in blood - Anti-measles antibody positivity + Anti-measles antibody positivity @@ -694058,7 +697657,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-02-04T08:51:46Z Schistosoma antibody titer high in blood - Anti-schistosoma antibody positivity + Anti-schistosoma antibody positivity @@ -694072,7 +697671,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-02-04T08:54:05Z Anti-Powassan encephalitis virus antibody positivity Powassan encephalitis antibody titer high in blood - Anti-Powassan virus antibody positivity + Anti-Powassan virus antibody positivity @@ -694090,7 +697689,7 @@ second to fifth metatarsophalangeal joints, and wrists. Detection of an marker such as a protein by immunohistochemistry or related investigation techniques. The presence or absence of such markers can be used to identify cell types on the basis of a profile of expressed markers. These terms do not imply abnormality and can be used for any cell type or organ. 2024-02-06T10:50:35Z - Marker expression + Marker expression @@ -694103,7 +697702,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-02-07T04:42:57Z The BCL2 proteins are central regulators of the mitochondrial apoptotic pathway. Overexpression of the BCL2 is associated with a poor prognosis in diffuse large B-cell lymphoma. - BCL2 expression + BCL2 expression @@ -694122,7 +697721,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-02-07T04:45:50Z BCL6 is a transcriptional repressor which has emerged as a critical regulator of germinal centers (GCs) of lymph nodes. BCL6 is also a frequently activated oncogene in the pathogenesis of human B cell lymphomas, most of which derive from the GC B cells. - BCL6 expression + BCL6 expression @@ -694140,8 +697739,8 @@ second to fifth metatarsophalangeal joints, and wrists. Detection of the presence of CD5 on the cell(s) of interest with the use of anti-CD5 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry). 2024-02-07T04:47:44Z - The CD5 antigen is expressed by most T cells and a subset of B cells. Human CD5 positive B cells are present in fetal lymphoid tissue, their frequency decreasing with fetal age. In adult human tissues, CD5 positive B cells have been reported to be present in the germinal centre and mantle zone. Malignancies of CD5 positive B cells include mantle cell lymphoma and chronic lymphocytic leukemia. - CD5 expression + The CD5 antigen is expressed by most T cells and a subset of B cells. Human CD5 positive B cells are present in fetal lymphoid tissue, their frequency decreasing with fetal age. In adult human tissues, CD5 positive B cells have been reported to be present in the germinal center and mantle zone. Malignancies of CD5 positive B cells include mantle cell lymphoma and chronic lymphocytic leukemia. + CD5 expression @@ -694159,8 +697758,8 @@ second to fifth metatarsophalangeal joints, and wrists. Detection of the presence of CD10 on the cell(s) of interest with the use of anti-CD10 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry). 2024-02-07T04:50:08Z - The CD10 antigen is expressed in acute lymphoblastic leukaemia and follicle centre cell lymphoma. - CD10 expression + The CD10 antigen is expressed in acute lymphoblastic leukemia and follicle center cell lymphoma. + CD10 expression @@ -694179,7 +697778,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-02-07T04:51:48Z CD23 is Fc epsilon RII, the low-affinity receptor for IgE. CD23 is found on mature B cells, activated macrophages, eosinophils, follicular dendritic cells, and platelets. - CD23 expression + CD23 expression @@ -694192,7 +697791,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-02-07T04:54:55Z CD38 is cyclic ADP ribose hydrolase, a glycoprotein[ found on the surface of many immune cells (white blood cells), including CD4+, CD8+, B lymphocytes and natural killer cells. - CD38 expression + CD38 expression @@ -694211,7 +697810,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-02-07T04:57:18Z CD45 is a pan-leukocyte protein with tyrosine phosphatase activity involved in the regulation of signal transduction in hematopoiesis. - CD45 expression + CD45 expression @@ -694230,7 +697829,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-02-07T04:58:36Z Cyclin D1 is an important regulator of the cell cycle and overexpression of this protein by immunohistochemistry is characteristically seen in mantle cell lymphoma and other B-cell neoplasms. - Cyclin D1 expression + Cyclin D1 expression @@ -694249,7 +697848,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-02-07T05:01:08Z FMC7 is a late B cell differentiation marker. - FMC7 expression + FMC7 expression @@ -694268,7 +697867,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-02-07T05:03:31Z In normal cells, CD19 is the most ubiquitously expressed protein in the B lymphocyte lineage. CD19 expression is induced at the point of B lineage commitment during the differentiation of the hematopoietic stem cell, and its expression continues through preB and mature B cell differentiation until it is finally down-regulated during terminal differentiation into plasma cells. CD19 expression is maintained in B-lineage cells that have undergone neoplastic transformation, and therefore CD19 is useful in diagnosis of leukemias and lymphomas using monoclonal antibodies (mAbs) and flow cytometry. - CD19 expression + CD19 expression @@ -694287,7 +697886,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-02-07T05:04:05Z CD20 is a 33-37 kDa, non-glycosylated phosphoprotein expressed on the surface of almost all normal and malignant B cells. - CD20 expression + CD20 expression @@ -694305,7 +697904,7 @@ second to fifth metatarsophalangeal joints, and wrists. information about the patient's previous surgical treatments that might be relevant to the presenting illness or to provide optimal clinical management. 2024-02-11T07:51:14Z - Past surgical history + Past surgical history @@ -694317,7 +697916,7 @@ second to fifth metatarsophalangeal joints, and wrists. Any structural abnormality of a superficial temporal artery, originating from the external carotid artery and passing over the zygomatic process. The superficial temporal artery is located on the superficial parts of the forehead and sides of the head and face. 2024-02-11T08:08:28Z - Abnormal superficial temporal artery morphology + Abnormal superficial temporal artery morphology @@ -694330,7 +697929,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-02-11T08:13:09Z This feature may be observed in temporal arteritis. The foci are characterized by mononuclear cell infiltrates or a granulomatous process with multinucleated giant cells. - Skip lesions on temporal artery biopsy + Skip lesions on temporal artery biopsy @@ -694346,15 +697945,15 @@ second to fifth metatarsophalangeal joints, and wrists. - Any anomaly of brain-evoked potentials, defined as potentials generated by exteroceptive stimuli reflect synchronised activity by neuronal and axonal groups in the central nervous system (CNS) resulting from the arrival of nerve impulses after stimulation of a peripheral nerve or its receptors. Depending on the type of stimulus, evoked potentials are categorised as visual (VEP), auditory (AEP), or somatosensory (SSEP). Motor evoked potentials (MEP) occur when the brain's motor area is stimulated. They result from the activation of a sufficient number of motor units. + Any anomaly of brain-evoked potentials, defined as potentials generated by exteroceptive stimuli reflect synchronized activity by neuronal and axonal groups in the central nervous system (CNS) resulting from the arrival of nerve impulses after stimulation of a peripheral nerve or its receptors. Depending on the type of stimulus, evoked potentials are categorized as visual (VEP), auditory (AEP), or somatosensory (SSEP). Motor evoked potentials (MEP) occur when the brain's motor area is stimulated. They result from the activation of a sufficient number of motor units. 2024-02-11T17:19:38Z - Abnormal brain-evoked potentials + Abnormal brain-evoked potentials - Any anomaly of brain-evoked potentials, defined as potentials generated by exteroceptive stimuli reflect synchronised activity by neuronal and axonal groups in the central nervous system (CNS) resulting from the arrival of nerve impulses after stimulation of a peripheral nerve or its receptors. Depending on the type of stimulus, evoked potentials are categorised as visual (VEP), auditory (AEP), or somatosensory (SSEP). Motor evoked potentials (MEP) occur when the brain's motor area is stimulated. They result from the activation of a sufficient number of motor units. + Any anomaly of brain-evoked potentials, defined as potentials generated by exteroceptive stimuli reflect synchronized activity by neuronal and axonal groups in the central nervous system (CNS) resulting from the arrival of nerve impulses after stimulation of a peripheral nerve or its receptors. Depending on the type of stimulus, evoked potentials are categorized as visual (VEP), auditory (AEP), or somatosensory (SSEP). Motor evoked potentials (MEP) occur when the brain's motor area is stimulated. They result from the activation of a sufficient number of motor units. PMID:22995526 @@ -694363,11 +697962,11 @@ second to fifth metatarsophalangeal joints, and wrists. - + The presence of an infectious agent in the sputum, as characterized by sputum culture or other investigation. 2024-02-11T17:56:17Z - Sputum infectious agent + Sputum infectious agent @@ -694386,7 +697985,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-02-11T17:58:07Z Mycobacterium avium-intracellulare complex (MAC) is a ubiquitous environmental microorganism whose pathogenicity ranges from innocuous colonization to disease, in immunocompetent as well as immunocompromised individuals. - Positive Mycobacterium avium sputum culture + Positive Mycobacterium avium sputum culture @@ -694400,11 +697999,11 @@ second to fifth metatarsophalangeal joints, and wrists. - + A test result demonstrating the presence of an antigen (marker such as a protein against which an antibody reacts) specific to an infectious agent. 2024-02-20T09:00:56Z - Positive bloodstream infectious agent antigen test + Positive bloodstream infectious agent antigen test @@ -694417,7 +698016,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-02-20T09:04:50Z Cysticercosis, the infection with the larval stage of Taenia solium, is a cause of neurological symptoms including seizures. - Positive bloodstream Cysticercosis antigen test + Positive bloodstream Cysticercosis antigen test @@ -694435,7 +698034,7 @@ second to fifth metatarsophalangeal joints, and wrists. Involuntary attacks of compulsive paroxysmal shouting. The shouting behaviors may be extremely loud and not related to the ongoing mental state of the affected individual. Shouting episodes may occur in bouts and last for several hours. 2024-02-22T06:16:38Z - Klazomania + Klazomania @@ -694454,7 +698053,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-02-22T06:21:04Z In Tourette syndrome (TS), the unintended expression of coprolalic behaviors is encountered in about one-fifth of patients. Typical coprolalic behaviors in TS are characterized by the utterance of single short obscenities (e.g., in English, so-called four-letter words) with a different pitch or tone from ongoing speech. There have been only a few reports of patients exhibiting coprolalia in other neurological conditions, such as neurodevelopmental disorders (e.g., Kleine-Levin and fragile X syndrome), neurodegenerative syndromes (e.g., FTD, Alzheimer's disease, and chorea-acanthocytosis), after focal brain lesions, in encephalitis lethargica, or as ictal phenomenon. - Coprolalia + Coprolalia @@ -694467,7 +698066,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-02-22T06:24:32Z Continuous involuntary vocalizations are most frequently associated with neurodegenerative diseases. in dementias, such as Alzheimer's disease and Huntington disease, continuous involuntary vocalizations, often labeled as vocally disruptive behavior, are part of a spectrum of behavioral symptoms that correlate with the severity of cognitive impairment and may be exacerbated with emotional arousal. Purposeless noisemaking, for example, groaning or howling in parkinsonism may also be encountered. - Continuous involuntary vocalizations + Continuous involuntary vocalizations @@ -694485,7 +698084,7 @@ second to fifth metatarsophalangeal joints, and wrists. Congenital absence or underdevelopment of the uterine cervix. 2024-02-22T07:00:04Z - Aplasia/hypoplasia of the uterine cervix + Aplasia/hypoplasia of the uterine cervix @@ -694497,7 +698096,7 @@ second to fifth metatarsophalangeal joints, and wrists. Underdevelopment of the uterine cervix. 2024-02-22T07:00:44Z - Cervical hypoplasia + Cervical hypoplasia @@ -694509,7 +698108,7 @@ second to fifth metatarsophalangeal joints, and wrists. A serous papillary adenocarcinoma that arises from the lining of the peritoneum 2024-02-22T08:21:15Z - Primary peritoneal serous papillary adenocarcinoma + Primary peritoneal serous papillary adenocarcinoma @@ -694521,7 +698120,7 @@ second to fifth metatarsophalangeal joints, and wrists. Any kind of test for an infectious agent in skin positive. 2024-02-24T10:51:05Z - Positive skin infectious agent test + Positive skin infectious agent test @@ -694534,7 +698133,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-02-24T10:52:21Z Positive KOH test for fungi - Positive skin fungus test + Positive skin fungus test @@ -694554,7 +698153,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-02-24T11:08:53Z Eosinophils predominate in nasal discharge Nasal eosinophil examinations are routine for patients with continuous nasal discharge symptoms (more than one week), for diagnosing nasal eosinophil-positive rhinitis. - Nasal secretion eosinophilia + Nasal secretion eosinophilia @@ -694572,7 +698171,7 @@ second to fifth metatarsophalangeal joints, and wrists. Count of neutrophils in nasal secretions (for instance, nasal discharge) above the upper limit of normal. 2024-02-24T11:11:37Z - Nasal secretion neutrophilia + Nasal secretion neutrophilia @@ -694585,7 +698184,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-02-25T07:21:07Z Absent seminal vesicles - Seminal vesicle agenesis + Seminal vesicle agenesis @@ -694604,7 +698203,7 @@ second to fifth metatarsophalangeal joints, and wrists. In a patient with nystagmus, The examiner briskly rotates the head of the patient while having the patient fixate on a target. A corrective saccade indicates the patient's eye will move in one direction and quickly return back to neutral position. 2024-02-25T14:04:38Z - Head impulse test has corrective saccade + Head impulse test has corrective saccade @@ -694616,7 +698215,7 @@ second to fifth metatarsophalangeal joints, and wrists. Any kind of test for an infectious agent in the cerebrospinal fluid (CSF) positive. 2024-02-25T14:06:05Z - Positive CSF infectious agent test + Positive CSF infectious agent test @@ -694629,7 +698228,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-02-25T14:07:12Z Positive CSF toxoplasma gondii PCR - Positive CSF toxoplasma gondii nucleic acid test + Positive CSF toxoplasma gondii nucleic acid test @@ -694641,7 +698240,7 @@ second to fifth metatarsophalangeal joints, and wrists. The activity or concentration of plasminogen activator inhibitor-1 in the blood circulation is above the upper limit of normal. 2024-02-25T14:09:17Z - Elevated circulating plasminogen activator inhibitor 1 activity + Elevated circulating plasminogen activator inhibitor 1 activity @@ -694653,7 +698252,7 @@ second to fifth metatarsophalangeal joints, and wrists. The activity or concentration of plasminogen activator inhibitor-1 in the blood circulation is outside of the limits of the normal range. 2024-02-25T14:10:33Z - Abnormal circulating plasminogen activator inhibitor 1 activity + Abnormal circulating plasminogen activator inhibitor 1 activity @@ -694665,7 +698264,7 @@ second to fifth metatarsophalangeal joints, and wrists. The pattern by which a phenotype is localized to or predominant in a part of the brain. 2024-02-25T14:13:57Z - Brain localization + Brain localization @@ -694677,7 +698276,7 @@ second to fifth metatarsophalangeal joints, and wrists. Localization to or predominance in the frontal cortex of the brain. 2024-02-25T14:14:54Z - Frontal cortical localization + Frontal cortical localization @@ -694689,7 +698288,7 @@ second to fifth metatarsophalangeal joints, and wrists. Localization to or predominance in the parts of the brain within the posterior fossa. 2024-02-25T14:17:24Z - Posterior fossa localization + Posterior fossa localization @@ -694701,7 +698300,7 @@ second to fifth metatarsophalangeal joints, and wrists. Localization to or predominance in the subcortical region of the brain. 2024-02-25T14:19:00Z - Subcortical localization + Subcortical localization @@ -694713,7 +698312,7 @@ second to fifth metatarsophalangeal joints, and wrists. Localization to or predominance in the parietal cortex of the brain. 2024-02-25T14:20:33Z - Parietal cortex localization + Parietal cortex localization @@ -694725,7 +698324,7 @@ second to fifth metatarsophalangeal joints, and wrists. Localization to or predominance in the occipital cortex of the brain. 2024-02-25T14:22:14Z - Occipital cortex localization + Occipital cortex localization @@ -694737,7 +698336,7 @@ second to fifth metatarsophalangeal joints, and wrists. History of use of tobacco products such as cigarettes. 2024-02-25T14:24:07Z - Tobacco use history + Tobacco use history @@ -694751,7 +698350,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-02-26T07:51:18Z Bartholin duct cyst Vulvar cyst - Bartholin cyst + Bartholin cyst @@ -694770,7 +698369,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-03-02T08:04:11Z Abnormal circulating hepatic transaminase activity - Abnormal circulating hepatic transaminase concentration + Abnormal circulating hepatic transaminase concentration @@ -694782,7 +698381,7 @@ second to fifth metatarsophalangeal joints, and wrists. The concentration of aspartate aminotransferase (AST) in the blood circulation is below the lower limit of normal. 2024-03-02T08:06:50Z - Reduced circulating aspartate aminotransferase concentration + Reduced circulating aspartate aminotransferase concentration @@ -694795,7 +698394,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-03-02T08:10:37Z Succinic acid high in urine - Elevated urine succinic acid level + Elevated urine succinic acid level @@ -694809,7 +698408,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-03-02T08:13:52Z Positive CSF varicella zoster virus PCR Varicella zoster virus PCR in CSF positive - Positive CSF varicella zoster virus nucleic acid test + Positive CSF varicella zoster virus nucleic acid test @@ -694821,7 +698420,7 @@ second to fifth metatarsophalangeal joints, and wrists. Positive serology in the cerebrospinal fluid (CSF) for a exposure to an infectious agent (i.e., examining CSF for the presence of pathogen-specific antibodies). 2024-03-02T08:15:56Z - Positive CSF pathogen-specific antibody positivity + Positive CSF pathogen-specific antibody positivity @@ -694833,7 +698432,7 @@ second to fifth metatarsophalangeal joints, and wrists. Positive (abnormal) result of a cerebrospinal fluid (CSF) test such as polymerase chain reaction that is targeted against a nucleic acid sequence specific for a pathogen. 2024-03-02T08:16:58Z - Positive CSF nucleic acid pathogen test + Positive CSF nucleic acid pathogen test @@ -694846,7 +698445,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-03-02T08:18:25Z Anti-VZV IgG antibodies in CSF - Positive CSF varicella zoster antibody positivity + Positive CSF varicella zoster antibody positivity @@ -694859,7 +698458,116 @@ second to fifth metatarsophalangeal joints, and wrists. 2024-03-02T09:10:08Z IL-6 low in blood - Reduced circulating interleukin 6 concentration + Reduced circulating interleukin 6 concentration + + + + + + + + + Concentration of C12 acylcarnitines in the blood circulation above the upper limit of normal. C12 acylcarnitines have a twelve-carbon acyl chain. + + 2024-03-07T11:19:00Z + Elevated circulating C12 acylcarnitine concentration + + + + + + + + + Increased activity of the frontalis muscle, causing a characteristic staring and astonished facial expression. + + 2024-03-07T11:28:49Z + Frontalis muscle overactivity + + + + + Increased activity of the frontalis muscle, causing a characteristic staring and astonished facial expression. + PMID:16353177 + + + + + + + + + An ectodermal inclusion cyst containing skin and skin appendages; sebaceous glands, hair follicles, and occasionally sweat glands. + + 2024-03-07T11:33:41Z + Nasal dermoid cyst + + + + + An ectodermal inclusion cyst containing skin and skin appendages; sebaceous glands, hair follicles, and occasionally sweat glands. + PMID:27895540 + + + + + + + + + Concentration of the complement component C3 in the blood circulation above the upper limit of normal. + + 2024-03-08T09:59:21Z + Elevated circulating complement C3 concentration + + + + + + + + + The concentration of inhibin B in the blood circulation is outside the limits of normal. + + 2024-03-09T15:44:41Z + Abnormal circulating inhibin B concentration + + + + + + + + + The concentration of lipoprotein(a) in the blood circulation is outside the limits of normal. + + 2024-03-09T15:46:36Z + Lipoprotein(a), also known as apolipoprotein(A), is encoded by LPA (HGNC:6667). + Abnormal circulating lipoprotein(a) concentration + + + + + + + + + Any kind of test for an infectious agent in the blood circulation positive. + + 2024-03-18T13:21:31Z + Positive blood infectious agent test + + + + + + + + + Any kind of test for an infectious agent in the respiratory tract positive. + + 2024-03-18T13:22:49Z + Positive respiratory tract infectious agent test @@ -694871,7 +698579,6 @@ second to fifth metatarsophalangeal joints, and wrists. A perceived unpleasant smell given off by the body. BO Body odor - Body odour Bromhidrosis Bromidrosis Osmidrosis @@ -696752,7 +700459,7 @@ second to fifth metatarsophalangeal joints, and wrists. - A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus. + A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimeters posterior to the limbus. 2018-02-26T17:48:12Z Conjunctival dermolipoma @@ -696760,7 +700467,7 @@ second to fifth metatarsophalangeal joints, and wrists. - A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus. + A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimeters posterior to the limbus. @@ -696940,19 +700647,19 @@ second to fifth metatarsophalangeal joints, and wrists. - Having a characteristic appearance of a slate gray area of pigmentation within the disc margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas. + Having a characteristic appearance of a slate gray area of pigmentation within the disk margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas. 2018-03-20T19:55:34Z Optic nerve grey crescent Temporal gray pigmentary crescent Temporal grey pigmentary crescent - This type of disc rim pigmentation can create the impression of neuroretinal rim thinning, and thus lead to the misdiagnosis of glaucoma or "glaucoma suspect" with attendant implications for overtreatment or unnecessary close monitoring of such patients. + This type of disk rim pigmentation can create the impression of neuroretinal rim thinning, and thus lead to the misdiagnosis of glaucoma or "glaucoma suspect" with attendant implications for overtreatment or unnecessary close monitoring of such patients. Optic nerve gray crescent - Having a characteristic appearance of a slate gray area of pigmentation within the disc margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas. + Having a characteristic appearance of a slate gray area of pigmentation within the disk margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas. PMID:24862768 @@ -696970,7 +700677,7 @@ second to fifth metatarsophalangeal joints, and wrists. - This type of disc rim pigmentation can create the impression of neuroretinal rim thinning, and thus lead to the misdiagnosis of glaucoma or "glaucoma suspect" with attendant implications for overtreatment or unnecessary close monitoring of such patients. + This type of disk rim pigmentation can create the impression of neuroretinal rim thinning, and thus lead to the misdiagnosis of glaucoma or "glaucoma suspect" with attendant implications for overtreatment or unnecessary close monitoring of such patients. PMID:24862768 @@ -697054,7 +700761,7 @@ second to fifth metatarsophalangeal joints, and wrists. - A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva manoeuvre. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to haemorrhage. + A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva maneuver. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to hemorrhage. 2018-03-27T14:55:41Z Lymphangioma of the orbit @@ -697062,7 +700769,7 @@ second to fifth metatarsophalangeal joints, and wrists. - A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva manoeuvre. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to haemorrhage. + A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva maneuver. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to hemorrhage. ISBN-13:978-0199679980 @@ -700747,7 +704454,7 @@ second to fifth metatarsophalangeal joints, and wrists. Reflex anoxic seizure Reflex anoxic seizures - Reflex asystolic syncope + Reflex asystolic syncope @@ -700836,7 +704543,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-22T17:26:10Z - Abnormal circulating amino sulfonic acid concentration + Abnormal circulating amino sulfonic acid concentration @@ -700910,7 +704617,7 @@ second to fifth metatarsophalangeal joints, and wrists. Elevated serum taurine levels Increased circulating taurine levels in the blood - Hypertaurinemia + Hypertaurinemia @@ -700985,7 +704692,7 @@ second to fifth metatarsophalangeal joints, and wrists. Decreased circulating taurine levels Lower blood levels of taurine Reduced taurine levels in the blood - Hypotaurinemia + Hypotaurinemia @@ -701057,7 +704764,7 @@ second to fifth metatarsophalangeal joints, and wrists. Any deviation from the normal concentration of a carboxylic acid in the cerebrospinal fluid. 2019-02-25T15:15:53Z - Abnormal CSF carboxylic acid concentration + Abnormal CSF carboxylic acid concentration @@ -701133,7 +704840,7 @@ second to fifth metatarsophalangeal joints, and wrists. Abnormal CSF amino acid level Abnormal amino acid levels in cerebrospinal fluid Abnormal cerebrospinal fluid amino acid level - Abnormal CSF amino acid concentration + Abnormal CSF amino acid concentration @@ -701218,7 +704925,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T15:24:13Z Abnormal branched-chain amino acid levels in cerbrospinal fluid - Abnormal CSF branched chain amino acid concentration + Abnormal CSF branched chain amino acid concentration @@ -701303,7 +705010,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T15:28:13Z Abnormal valine levels in cerebrospinal fluid - Abnormal CSF valine concentration + Abnormal CSF valine concentration @@ -701388,7 +705095,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T15:37:57Z High valine levels in cerebrospinal fluid - Increased CSF valine concentration + Increased CSF valine concentration @@ -701473,7 +705180,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T15:40:23Z Low valine levels in cerebrospinal fluid - Decreased CSF valine concentration + Decreased CSF valine concentration @@ -701558,7 +705265,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T15:52:19Z Abnormal leucine levels in cerebrospinal fluid - Abnormal CSF leucine concentration + Abnormal CSF leucine concentration @@ -701643,7 +705350,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T15:52:49Z Low leucine levels in cerebrospinal fluid - Decreased CSF leucine concentration + Decreased CSF leucine concentration @@ -701728,7 +705435,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T15:53:12Z High leucine levels in cerebrospinal fluid - Increased CSF leucine concentration + Increased CSF leucine concentration @@ -701813,7 +705520,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T16:24:44Z Abnormal isoleucine levels in cerebrospinal fluid - Abnormal CSF isoleucine concentration + Abnormal CSF isoleucine concentration @@ -701898,7 +705605,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T16:25:11Z High levels of isoleucine in cerebrospinal fluid - Increased CSF isoleucine concentration + Increased CSF isoleucine concentration @@ -701983,7 +705690,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T16:25:36Z Low levels of isoleucine in cerebrospinal fluid - Decreased CSF isoleucine concentration + Decreased CSF isoleucine concentration @@ -702068,7 +705775,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T16:41:53Z Abnormal glutamine family amino acid levels in cerebrospinal fluid - Abnormal CSF glutamine family amino acid concentration + Abnormal CSF glutamine family amino acid concentration @@ -702153,7 +705860,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T16:42:34Z Abnormal glutamine levels in cerebrospinal fluid - Abnormal CSF glutamine concentration + Abnormal CSF glutamine concentration @@ -702238,7 +705945,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T16:43:02Z High glutamine levels in cerebrospinal fluid - Increased CSF glutamine concentration + Increased CSF glutamine concentration @@ -702323,7 +706030,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T16:43:22Z Low glutamine levels in cerebrospinal fluid - Decreased CSF glutamine concentration + Decreased CSF glutamine concentration @@ -702402,7 +706109,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T16:56:56Z Abnormal glutamic acid levels in cerebrospinal fluid - Abnormal CSF glutamate concentration + Abnormal CSF glutamate concentration @@ -702487,7 +706194,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T16:57:13Z High glutamic acid levels in cerebrospinal fluid - Increased CSF glutamate concentration + Increased CSF glutamate concentration @@ -702572,7 +706279,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T16:57:30Z Low glutamic acid levels in cerebrospinal fluid - Decreased CSF glutamate concentration + Decreased CSF glutamate concentration @@ -702657,7 +706364,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T17:12:23Z Abnormal arginine levels in cerebrospinal fluid - Abnormal CSF arginine concentration + Abnormal CSF arginine concentration @@ -702742,7 +706449,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T17:12:38Z High arginine levels in cerebrospinal fluid - Increased CSF arginine concentration + Increased CSF arginine concentration @@ -702827,7 +706534,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T17:12:54Z Low arginine levels in cerebrospinal fluid - Decreased CSF arginine concentration + Decreased CSF arginine concentration @@ -702912,7 +706619,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T18:30:37Z Abnormal aspartate-family amino acid levels in cerebrospinal fluid - Abnormal CSF aspartate family amino acid concentration + Abnormal CSF aspartate family amino acid concentration @@ -702991,7 +706698,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T18:31:42Z Abnormal lysine levels in cerebrospinal fluid - Abnormal CSF lysine concentration + Abnormal CSF lysine concentration @@ -703076,7 +706783,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T18:31:54Z Low lysine levels in cerebrospinal fluid - Decreased CSF lysine concentration + Decreased CSF lysine concentration @@ -703161,7 +706868,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T18:32:16Z High lysine levels in cerebrospinal fluid - Increased CSF lysine concentration + Increased CSF lysine concentration @@ -703234,7 +706941,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T18:58:00Z Abnormal methionine levels in cerebrospinal fluid - Abnormal CSF methionine concentration + Abnormal CSF methionine concentration @@ -703319,7 +707026,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T18:58:44Z High methionine levels in cerebrospinal fluid - Increased CSF methionine concentration + Increased CSF methionine concentration @@ -703404,7 +707111,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T19:08:53Z Abnormal threonine levels in cerebrospinal fluid - Abnormal CSF threonine concentration + Abnormal CSF threonine concentration @@ -703489,7 +707196,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T19:09:32Z High threonine levels in cerebrospinal fluid - Increased CSF threonine concentration + Increased CSF threonine concentration @@ -703574,7 +707281,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T19:10:14Z Low threonine levels in the cerebrospinal fluid - Decreased CSF threonine concentration + Decreased CSF threonine concentration @@ -703659,7 +707366,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T19:28:05Z Abnormal aromatic amino acid levels in cerebrospinal fluid - Abnormal CSF aromatic amino acid concentration + Abnormal CSF aromatic amino acid concentration @@ -703744,7 +707451,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T19:28:51Z Abnormal phenylalanine levels in cerebrospinal fluid - Abnormal CSF phenylalanine concentration + Abnormal CSF phenylalanine concentration @@ -703770,7 +707477,7 @@ second to fifth metatarsophalangeal joints, and wrists. Abnormal CSF aspartic acid concentration Abnormal aspartic acid levels in cerebrospinal fluid - Abnormal CSF aspartate concentration + Abnormal CSF aspartate concentration @@ -703784,7 +707491,7 @@ second to fifth metatarsophalangeal joints, and wrists. High aspartic acid levels in cerebrospinal fluid Increased CSF aspartic acid concentration - Increased CSF aspartate concentration + Increased CSF aspartate concentration @@ -703875,7 +707582,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T19:44:06Z Abnormal tryptophan levels in cerebrospinal fluid - Abnormal CSF tryptophan concentration + Abnormal CSF tryptophan concentration @@ -703954,7 +707661,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T19:48:03Z Abnormal tyrosine levels in cerebrospinal fluid - Abnormal CSF tyrosine concentration + Abnormal CSF tyrosine concentration @@ -704039,7 +707746,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T19:53:00Z High tyrosine levels in cerebrospinal fluid - Increased CSF tyrosine concentration + Increased CSF tyrosine concentration @@ -704124,7 +707831,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T19:53:22Z Low tyrosine levels in the cerebrospinal fluid - Decreased CSF tyrosine concentration + Decreased CSF tyrosine concentration @@ -704209,7 +707916,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T20:07:30Z High tryptophan levels in cerebrospinal fluid - Increased CSF tryptophan concentration + Increased CSF tryptophan concentration @@ -704294,7 +708001,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T20:13:37Z High phenylalanine levels in cerebrospinal fluid - Increased CSF phenylalanine concentration + Increased CSF phenylalanine concentration @@ -704379,7 +708086,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T20:13:51Z Low phenylalanine levels in cerebrospinal fluid - Decreased CSF phenylalanine concentration + Decreased CSF phenylalanine concentration @@ -704464,7 +708171,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T20:27:34Z Abnormal serine-family amino acid levels in cerebrospinal fluid - Abnormal CSF serine family amino acid concentration + Abnormal CSF serine family amino acid concentration @@ -704549,7 +708256,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T20:30:42Z Abnormal serine levels in cerebrospinal fluid - Abnormal CSF serine concentration + Abnormal CSF serine concentration @@ -704634,7 +708341,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T20:32:30Z High serine levels in cerebrospinal fluid - Increased CSF serine concentration + Increased CSF serine concentration @@ -704719,7 +708426,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T20:32:46Z Low serine levels in cerebrospinal fluid - Decreased CSF serine concentration + Decreased CSF serine concentration @@ -704804,7 +708511,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T20:40:09Z Abnormal glycine levels in cerebrospinal fluid - Abnormal CSF glycine concentration + Abnormal CSF glycine concentration @@ -704883,7 +708590,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T20:40:30Z High glycine levels in cerebrospinal fluid - Increased CSF glycine concentration + Increased CSF glycine concentration @@ -704968,7 +708675,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T20:53:35Z Abnormal pyruvate-family amino acid levels in cerebrospinal fluid - Abnormal CSF pyruvate family amino acid concentration + Abnormal CSF pyruvate family amino acid concentration @@ -705041,7 +708748,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T20:53:52Z Abnormal alanine levels in cerebrospinal fluid - Abnormal CSF alanine concentration + Abnormal CSF alanine concentration @@ -705126,7 +708833,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T20:55:23Z High alanine levels in cerebrospinal fluid - Increased CSF alanine concentration + Increased CSF alanine concentration @@ -705211,7 +708918,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T20:55:37Z Low alanine levels in cerebrospinal fluid - Decreased CSF alanine concentration + Decreased CSF alanine concentration @@ -705296,7 +709003,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T21:07:30Z Abnormal histidine levels in cerebrospinal fluid - Abnormal CSF histidine concentration + Abnormal CSF histidine concentration @@ -705381,7 +709088,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T21:08:11Z High histidine levels in cerebrospinal fluid - Increased CSF histidine concentration + Increased CSF histidine concentration @@ -705466,7 +709173,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-25T21:08:33Z Low histidine levels in cerebrospinal fluid - Decreased CSF histidine concentration + Decreased CSF histidine concentration @@ -705551,7 +709258,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-26T15:00:29Z Abnormal albumin levels in cerebrospinal fluid - Abnormal CSF albumin concentration + Abnormal CSF albumin concentration @@ -705636,7 +709343,7 @@ second to fifth metatarsophalangeal joints, and wrists. High albumin levels in cerebrospinal fluid Abnormally increased levels of albumin in cerebrospinal fluid. - Increased CSF albumin concentration + Increased CSF albumin concentration @@ -705721,7 +709428,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-26T15:25:43Z Abnormal carnosine levels in cerebrospinal fluid - Abnormal CSF carnosine concentration + Abnormal CSF carnosine concentration @@ -705806,7 +709513,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-26T15:26:01Z Abnormal homocarnosine levels in cerebrospinal fluid - Abnormal CSF homocarnosine concentration + Abnormal CSF homocarnosine concentration @@ -705891,7 +709598,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-26T15:26:24Z High homocarnosine levels in cerebrospinal fluid - Increased CSF homocarnosine concentration + Increased CSF homocarnosine concentration @@ -705976,7 +709683,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-26T15:36:15Z Abnormal ornithine levels in cerebrospinal fluid - Abnormal CSF ornithine concentration + Abnormal CSF ornithine concentration @@ -706061,7 +709768,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-26T15:36:36Z High ornithine levels in cerebrospinal fluid - Increased CSF ornithine concentration + Increased CSF ornithine concentration @@ -706146,7 +709853,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-26T15:48:42Z Abnormal citrulline levels in cerebrospinal fluid - Abnormal CSF citrulline concentration + Abnormal CSF citrulline concentration @@ -706231,7 +709938,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-26T15:49:01Z High citrulline levels in cerebrospinal fluid - Increased CSF citrulline concentration + Increased CSF citrulline concentration @@ -706316,7 +710023,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-26T15:59:10Z Abnormal alpha-aminobutyrate levels in cerebrospinal fluid - Abnormal CSF alpha-aminobutyrate concentration + Abnormal CSF alpha-aminobutyrate concentration @@ -706401,7 +710108,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-26T15:59:28Z High alpha-aminobutyrate levels in cerebrospinal fluid - Increased CSF alpha-aminobutyrate concentration + Increased CSF alpha-aminobutyrate concentration @@ -706486,7 +710193,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-26T16:08:51Z Abnormal ethanolamine levels in the blood - Abnormal circulating ethanolamine concentration + Abnormal circulating ethanolamine concentration @@ -706571,7 +710278,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-02-26T16:09:12Z High ethanolamine levels in the blood - Increased circulating ethanolamine concentration + Increased circulating ethanolamine concentration @@ -706656,7 +710363,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-03-08T19:58:13Z Abnormal urine decanedioic acid concentration - Abnormal urine sebacic acid concentration + Abnormal urine sebacic acid concentration @@ -706735,7 +710442,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-03-08T20:03:22Z Increased urine decanedioic acid concentration - Increased urine sebacic acid concentration + Increased urine sebacic acid concentration @@ -706814,7 +710521,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-03-08T20:23:10Z Increased urinary excretion of gamma-aminobutyric acid (GABA) - Increased level of gamma-aminobutyric acid in urine + Increased level of gamma-aminobutyric acid in urine @@ -706893,7 +710600,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-03-08T20:56:21Z Abnormal urinary N-hexanoylglycine levels - Abnormal urine hexanoylglycine concentration + Abnormal urine hexanoylglycine concentration @@ -706918,7 +710625,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-03-08T21:01:41Z Elevated urinary N-hexanoylglycine concentration - Increased level of hexanoylglycine in urine + Increased level of hexanoylglycine in urine @@ -707003,7 +710710,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-03-08T21:14:32Z Abnormal urinary isobutyrylglycine levels - Abnormal urine isobutyrylglycine concentration + Abnormal urine isobutyrylglycine concentration @@ -707088,7 +710795,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-03-08T21:15:36Z High urinary isobutyrylglycine levels - Increased urine isobutyrylglycine concentration + Increased urine isobutyrylglycine concentration @@ -707174,7 +710881,7 @@ second to fifth metatarsophalangeal joints, and wrists. Abnormal CO2 level in cord blood Abnormal umbilical cord blood levels of carbon dioxide - Abnormal carbon dioxide level in cord blood + Abnormal carbon dioxide level in cord blood @@ -707255,7 +710962,7 @@ second to fifth metatarsophalangeal joints, and wrists. Abnormal O2 level in cord blood Abnormal cord blood oxygen levels Abnormal oxygen amount in umbilical cord blood - Abnormal oxygen level in cord blood + Abnormal oxygen level in cord blood @@ -707274,7 +710981,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2019-04-30T14:17:10Z Head trauma triggered symptoms - Triggered by head trauma + Triggered by head trauma @@ -707292,7 +710999,7 @@ second to fifth metatarsophalangeal joints, and wrists. Anesthetics triggered symptoms Triggered by anaesthetics Symptoms that are provoked by anesthetics adminstration, including halothane, sevoflurane, desflurane, enflurane, isoflurane, propofol, or etomidate. - Triggered by anesthetics + Triggered by anesthetics @@ -707362,7 +711069,7 @@ second to fifth metatarsophalangeal joints, and wrists. The most dramatic and severe form of hair loss characterized by an absence of hair follicles. 2019-08-21T15:12:23Z - Atrichia + Atrichia @@ -707449,7 +711156,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2020-05-15T19:15:28Z Abnormal proportion of circulating T-helper cells - Abnormal helper T cell proportion + Abnormal helper T cell proportion @@ -707537,7 +711244,7 @@ second to fifth metatarsophalangeal joints, and wrists. Elevated helper T cell proportion Increased proportion T-helper cells - Increased helper T cell proportion + Increased helper T cell proportion @@ -707625,7 +711332,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2020-05-15T19:32:37Z Increased proportion of effector memory CD8-positive, alpha-beta T cells, terminally differentiated - Increased proportion of CD8-positive, alpha-beta TEMRA T cells + Increased proportion of CD8-positive, alpha-beta TEMRA T cells @@ -707713,7 +711420,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2020-05-15T19:36:00Z Decreased proportion effector memory CD8-positive, alpha-beta T cells, terminally differentiated - Decreased proportion of CD8-positive, alpha-beta TEMRA T cells + Decreased proportion of CD8-positive, alpha-beta TEMRA T cells @@ -707800,7 +711507,7 @@ second to fifth metatarsophalangeal joints, and wrists. An abnormal proportion of circulating CD4-positive helper T cells relative to total T cell count. 2020-05-15T20:12:03Z - Abnormal proportion of CD4-positive helper T cells + Abnormal proportion of CD4-positive helper T cells @@ -707815,7 +711522,7 @@ second to fifth metatarsophalangeal joints, and wrists. Abnormal proportion of gamma-delta T-lymphocytes Abnormal proportion of gammadelta T cells Abnormal proprotion of gamma-delta T lymphocytes - Abnormal proportion of gamma-delta T cells + Abnormal proportion of gamma-delta T cells @@ -707906,7 +711613,7 @@ second to fifth metatarsophalangeal joints, and wrists. Increased proportion of gamma-delta T-cells Increased proportion of gamma-delta T-lymphocytes Increased proportion of gammadelta T cells - Increased proportion of gamma-delta T cells + Increased proportion of gamma-delta T cells @@ -707997,7 +711704,7 @@ second to fifth metatarsophalangeal joints, and wrists. Decreased proportion of gamma-delta T-lymphocytes Decreased proportion of gammadelta T cells Reduced proportion of gamma-delta T cells - Decreased proportion of gamma-delta T cells + Decreased proportion of gamma-delta T cells @@ -708018,7 +711725,7 @@ second to fifth metatarsophalangeal joints, and wrists. Abnormal proportion of immature gamma-delta T lymphocytes Abnormal proportion of immature gamma-delta T-cells Abnormal proportion of immature gamma-delta T-lymphocytes - Abnormal proportion of immature gamma-delta T cells + Abnormal proportion of immature gamma-delta T cells @@ -708109,7 +711816,7 @@ second to fifth metatarsophalangeal joints, and wrists. Increased proportion of immature gamma-delat T lymphocytes Increased proportion of immature gamma-delta T-cells Increased proportion of immature gamma-delta T-lymphocytes - Increased proportion of immature gamma-delta T cells + Increased proportion of immature gamma-delta T cells @@ -708200,7 +711907,7 @@ second to fifth metatarsophalangeal joints, and wrists. Decreased proportion of immature gamma-delta T-cells Decreased proportion of immature gamma-delta T-lymphocytes Reduced proportion of immature gamma-delta T cells - Decreased proportion of immature gamma-delta T cells + Decreased proportion of immature gamma-delta T cells @@ -708443,13 +712150,19 @@ second to fifth metatarsophalangeal joints, and wrists. - An abnormality of a frontalis muscle belly. + Abnormal function of the frontalis muscle, which covers parts of the forehead and is responsible for raising the eyebrows. 2015-02-26T03:42:54Z UMLS:C4073213 HP:3000004 - Abnormality of frontalis muscle belly + Abnormal frontalis muscle physiology + + + + Abnormal function of the frontalis muscle, which covers parts of the forehead and is responsible for raising the eyebrows. + PMID:32491684 + @@ -712937,7 +716650,7 @@ second to fifth metatarsophalangeal joints, and wrists. - Pronuclei formation is a critical process during fertilisation. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilisation. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilisation with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI. + Pronuclei formation is a critical process during fertilization. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilization. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilization with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI. 2021-04-25T23:27:41Z Three pro-nuclei (3PN) prevalence among all pregnancies has been estimated to be approximately 1% to 3%, whereas it accounts for 15% to 18% of cytogenetically abnormal cases among spontaneous abortions. @@ -712946,7 +716659,7 @@ second to fifth metatarsophalangeal joints, and wrists. - Pronuclei formation is a critical process during fertilisation. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilisation. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilisation with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI. + Pronuclei formation is a critical process during fertilization. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilization. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilization with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI. PMID:26550358 PMID:31704776 @@ -713244,7 +716957,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2021-05-02T14:48:27Z Bullous pemphigoid (BP) is an autoimmune blistering skin disease characterized by an autoimmune response to type XVII collagen (BP180). The generation of anti-BP180-NC16A IgG autoantibodies is considered to be central to the pathogenesis of BP, in part due to the close correlation between serum concentration and disease activity. However, about 60% of BP patients also generate IgG autoantibodies against LAD-1. - anti-LAD-1 antibody positivity + Anti-LAD-1 antibody positivity @@ -713690,7 +717403,7 @@ second to fifth metatarsophalangeal joints, and wrists. - Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterised by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighbouring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response. + Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterized by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighboring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response. 2021-05-02T21:53:27Z Abnormal apoptosis @@ -713698,7 +717411,7 @@ second to fifth metatarsophalangeal joints, and wrists. - Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterised by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighbouring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response. + Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterized by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighboring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response. PMID:11420279 @@ -714271,7 +717984,7 @@ second to fifth metatarsophalangeal joints, and wrists. - An absence or reduction in object sharing. Object sharing is an early emerging social skill in which a child will share objects such as toys, balls, or books with parents or peers during object play. Object sharing typically develops within the first two years of life. + An absence or reduction in object sharing. Object sharing is an early emerging social skill in which a child will share objects such as toys, balls, or books with parents or peers during object play. 2022-03-02T16:59:59Z @@ -714284,7 +717997,7 @@ second to fifth metatarsophalangeal joints, and wrists. - An absence or reduction in object sharing. Object sharing is an early emerging social skill in which a child will share objects such as toys, balls, or books with parents or peers during object play. Object sharing typically develops within the first two years of life. + An absence or reduction in object sharing. Object sharing is an early emerging social skill in which a child will share objects such as toys, balls, or books with parents or peers during object play. PMID:26803417 @@ -714408,7 +718121,7 @@ second to fifth metatarsophalangeal joints, and wrists. - Reduced ability to conduct a reciprocal (back and forth) conversation, as expected for language level. + Reduced use of reciprocal (back and forth) conversation, as compared to what would be expected for language level. 2022-08-29T13:04:27Z @@ -714436,7 +718149,7 @@ second to fifth metatarsophalangeal joints, and wrists. A condition in which the permanent teeth, because of deficiency of growth in the jaw or segment of jaw, assume a path of eruption that intercepts a primary tooth, causes its premature loss and produces a consequent malposition of the permanent tooth. 2023-01-16T07:30:03Z - Ectopic tooth eruption + Ectopic tooth eruption @@ -714453,7 +718166,7 @@ second to fifth metatarsophalangeal joints, and wrists. A developmental anomaly characterized by undergrowth of the corpus cavernosum. 2023-01-16T07:43:02Z - Corpus cavernosum hypoplasia + Corpus cavernosum hypoplasia @@ -714467,10 +718180,70 @@ second to fifth metatarsophalangeal joints, and wrists. + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Concentration of the nucleobase thymine in the blood circulation above the normal range. 2023-01-16T07:48:07Z - Elevated circulating thymine concentration + Elevated circulating thymine concentration @@ -714488,7 +718261,7 @@ second to fifth metatarsophalangeal joints, and wrists. Elevated hydrogen gas level in exhaled breath following oral administration of lactose. In individuals with lactose intolerance, undigested lactose in the colon will be metabolized by colonic bacteria, releasing hydrogen gas. 2023-01-16T09:09:11Z The enzyme lactase phlorizin hydrolase, located at the intestinal brush border, is necessary for the hydrolysis of lactose, the main sugar in milk. Due to the genetically programmed decrease in intestinal lactase activity that occurs post-weaning (lactase non-persistence), a large proportion of the human population loses, in adult age, the possibility to digest and absorb lactose. - Positive lactose hydrogen breath test + Positive lactose hydrogen breath test @@ -714505,7 +718278,7 @@ second to fifth metatarsophalangeal joints, and wrists. Applies to a sign or symptom that is provoked or brought about by exposure to a medication. 2023-01-16T09:10:52Z - Triggered by exposure to medication + Triggered by exposure to medication @@ -714517,7 +718290,7 @@ second to fifth metatarsophalangeal joints, and wrists. Applies to a sign or symptom that is provoked or brought about by exposure to allopurinol. 2023-01-16T09:11:45Z Allopurinol exposure - Triggered by allopurinol + Triggered by allopurinol @@ -714529,7 +718302,7 @@ second to fifth metatarsophalangeal joints, and wrists. Applies to a sign or symptom that is improved or made more bearable by oral zinc supplementation. 2023-01-16T09:12:44Z Zinc oral supplementation produces improvement - Ameliorated by oral zinc supplementation + Ameliorated by oral zinc supplementation @@ -714581,7 +718354,7 @@ second to fifth metatarsophalangeal joints, and wrists. A root of a tooth that is more rounded than normal. 2023-01-16T09:27:52Z Dental roots curved - Curved dental root + Curved dental root @@ -714593,7 +718366,7 @@ second to fifth metatarsophalangeal joints, and wrists. The four-chamber (4Ch) view of the fetal heart is the most widely used screening examination for the detection of structural cardiac abnormalities during routine fetal ultrasonography. In the healthy normal fetus, the apical 4Ch view demonstrates four well-developed chambers, a concordant atrioventricular (AV) connection, unobstructed AV valves (mitral and tricuspid valves), the foramen ovale flap opening into left atrium (LA), and an intact interventricular septum. Additionally, the pulmonary venous opening can be visualized at the LA wall. Any structural deviations from normal anatomy may lead to congenital heart disease that can be determined by the 4Ch view of the fetal heart's ultrasound imaging. 2023-01-16T17:36:32Z Abnormal four chamber view - Abnormal four chamber view of the fetal heart + Abnormal four chamber view of the fetal heart @@ -714610,7 +718383,7 @@ second to fifth metatarsophalangeal joints, and wrists. A hamartomatous lesion (benign focal lesions composed of disorganized tissue elements) localized in the spleen. 2023-01-16T17:40:36Z - Spleen hamartoma + Spleen hamartoma @@ -714622,7 +718395,7 @@ second to fifth metatarsophalangeal joints, and wrists. Deposits of immunoglobulins and complement components along the dermoepidermal junction. 2023-01-16T17:42:59Z Lupus band test positive - Positive lupus band test + Positive lupus band test @@ -714641,7 +718414,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2023-01-16T17:51:42Z Bone marrow: erythroid vacuolization See Figure 1 of PMID:29716882. - Bone marrow erythroid vacuolization + Bone marrow erythroid vacuolization @@ -714659,7 +718432,7 @@ second to fifth metatarsophalangeal joints, and wrists. Applies to a sign or symptom that is provoked or brought about by exposure to an electromagnetic field. 2023-01-17T08:44:37Z Electromagnetic field triggers symptoms - Triggered by electromagnetic field + Triggered by electromagnetic field @@ -714670,7 +718443,7 @@ second to fifth metatarsophalangeal joints, and wrists. Information about current and past exposure to metals, dust, fibers, fumes, chemicals, biologic hazards, radiation, noise, and/or vibration at work or home. 2023-01-17T08:46:14Z - Exposure history + Exposure history @@ -714682,7 +718455,7 @@ second to fifth metatarsophalangeal joints, and wrists. History of exposure to asbestos, a fibrous mineral with physical and chemical properties that make it resistant to heat and degradation. 2023-01-17T08:48:25Z Mesothelioma is an occupational disease occurring as a result of asbestos exposure in the workplace. - Asbestos exposure + Asbestos exposure @@ -714699,7 +718472,7 @@ second to fifth metatarsophalangeal joints, and wrists. Information about current or past medications taken by an individual. 2023-01-17T09:25:01Z - Medication history + Medication history @@ -714717,7 +718490,7 @@ second to fifth metatarsophalangeal joints, and wrists. History of having taken aminoglycoside antibiotics. 2023-01-17T09:26:54Z Aminoglycosides include gentamycin, tobramycin, amikacin, kanamycin, and streptomycin, and may be associated with ototoxicity. - Aminoglycoside exposure + Aminoglycoside exposure @@ -714729,7 +718502,7 @@ second to fifth metatarsophalangeal joints, and wrists. History of having taken statins, also known as HMG-CoA reductase inhibitors. 2023-01-17T09:28:37Z HMG-CoA reductase inhibitors, or statins, are widely used for hyperlipidemia and cardiovascular disease. - Statin exposure + Statin exposure @@ -714740,7 +718513,7 @@ second to fifth metatarsophalangeal joints, and wrists. History of having taken a potassium-sparing diuretic exposure such as amiloride, eplerenone, spironolactone, and triamterene. 2023-01-17T09:31:24Z - Potassium-sparing diuretic exposure + Potassium-sparing diuretic exposure @@ -714751,7 +718524,7 @@ second to fifth metatarsophalangeal joints, and wrists. History of having taken carbamazepine. 2023-01-17T09:32:24Z - Carbamazepine exposure + Carbamazepine exposure @@ -714762,7 +718535,7 @@ second to fifth metatarsophalangeal joints, and wrists. History of having taken valproate (valproic acid). 2023-01-17T09:33:10Z - Valproate exposure + Valproate exposure @@ -714773,7 +718546,7 @@ second to fifth metatarsophalangeal joints, and wrists. History of having taken hydralazine. 2023-01-17T09:34:05Z - Hydralazine exposure + Hydralazine exposure @@ -714785,7 +718558,7 @@ second to fifth metatarsophalangeal joints, and wrists. History of having taken a calcium channel blocker such as amlodipine, nicardipine, nifedipine, verapamil, or diltiazem. 2023-01-17T09:34:55Z Calcium channel blocking drug use - Calcium channel blocker exposure + Calcium channel blocker exposure @@ -714797,7 +718570,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2023-01-18T07:19:42Z Contact with nickel Applies to a sign or symptom that is provoked or brought about by exposure (cutaneous contact) to nickel. - Triggered by nickel + Triggered by nickel @@ -714809,7 +718582,7 @@ second to fifth metatarsophalangeal joints, and wrists. Applies to a sign or symptom that is provoked or brought about by exposure (cutaneous contact) to poison ivy, poison oak, and poison sumac. These three plants each contain urushiol. Contact with these plants is the most common causes of clinically diagnosed allergic contact dermatitis. 2023-01-18T07:23:05Z Contact with poison ivy, poison oak, or sumac - Triggered by poison ivy, poson oak, or sumac + Triggered by poison ivy, poson oak, or sumac @@ -714821,7 +718594,7 @@ second to fifth metatarsophalangeal joints, and wrists. A past medical history of having been fed exclusively by breast feeding. 2023-01-18T07:27:25Z Breast feeding, exclusive - History of exclusive breast feeding + History of exclusive breast feeding @@ -714832,7 +718605,7 @@ second to fifth metatarsophalangeal joints, and wrists. A part of the past medical history consisting of information about the typical food intake of an individual. 2023-01-18T07:37:16Z - Nutrition history + Nutrition history @@ -714851,7 +718624,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2023-01-18T07:39:57Z Foods high in oxalate, high intake An increased load of dietary oxalate presented to the kidneys has been linked to different kidney-related conditions and injuries. - High dietary oxalate intake + High dietary oxalate intake @@ -714869,7 +718642,7 @@ second to fifth metatarsophalangeal joints, and wrists. A history of ingestion of honey in recent weeks. 2023-01-18T07:43:55Z Honey ingestion in recent weeks - Recent honey ingestion + Recent honey ingestion @@ -714880,7 +718653,7 @@ second to fifth metatarsophalangeal joints, and wrists. A history of eating raw egg whites. 2023-01-18T07:45:03Z - Raw egg-white ingestion + Raw egg-white ingestion @@ -714892,7 +718665,7 @@ second to fifth metatarsophalangeal joints, and wrists. Applied to a sign or symptom that is worsened by administration of sodium channel blocking agents such as phenytoin, carbamazepine, oxcarbazepine, lamotrigine, topiramate, and zonisamide. 2023-01-18T07:46:52Z Sodium channel blocking drugs aggravate findings - Exacerbated by sodium channel blocking agent exposure + Exacerbated by sodium channel blocking agent exposure @@ -714924,7 +718697,7 @@ second to fifth metatarsophalangeal joints, and wrists. A past medical history of a recent blood transfusion. 2023-01-18T07:50:58Z Blood transfusion, recent - Recent blood transfusion + Recent blood transfusion @@ -714936,7 +718709,7 @@ second to fifth metatarsophalangeal joints, and wrists. Applies to a sign or symptom that is improved or made more bearable by administration of colchizine. 2023-01-18T07:54:01Z Colchicine ameliorates symptoms - Ameliorated by colchicine + Ameliorated by colchicine @@ -714948,7 +718721,7 @@ second to fifth metatarsophalangeal joints, and wrists. Applies to a sign or symptom that is improved or made more bearable by administration of vitamin D. 2023-01-18T07:55:18Z Vitamin D reduces manifestations - Ameliorated by vitamin D + Ameliorated by vitamin D @@ -714960,7 +718733,7 @@ second to fifth metatarsophalangeal joints, and wrists. Applied to a sign or symptom that is worsened by administration of phenytoin. 2023-01-18T07:56:19Z Phenytoin produces worsening - Exacerbated by phenytoin exposure + Exacerbated by phenytoin exposure @@ -714972,7 +718745,7 @@ second to fifth metatarsophalangeal joints, and wrists. Applies to a sign or symptom that is provoked or brought about by exposure to anngiotensin-converting enzyme inhibitor such as benazepril, captopril, enalapril, fosinopril, and lisinopril. 2023-01-18T07:57:47Z ACE inhibitors trigger attacks - Triggered by angiotensin-converting enzyme inhibitor + Triggered by angiotensin-converting enzyme inhibitor @@ -714983,7 +718756,7 @@ second to fifth metatarsophalangeal joints, and wrists. History of having been treateed with prostaglandin E1. 2023-01-18T08:00:25Z - Prostaglandin E1 exposure + Prostaglandin E1 exposure @@ -715000,7 +718773,7 @@ second to fifth metatarsophalangeal joints, and wrists. History of having been treated with 5-fluorouracil. 2023-01-18T08:02:17Z - 5-fluorouracil exposure + 5-fluorouracil exposure @@ -715011,7 +718784,7 @@ second to fifth metatarsophalangeal joints, and wrists. History of having been treateed with 6-mercaptopurine. 2023-01-18T08:03:10Z - 6-mercaptopurine exposure + 6-mercaptopurine exposure @@ -715022,7 +718795,7 @@ second to fifth metatarsophalangeal joints, and wrists. History of having been treateed with isoniazid. 2023-01-18T08:04:02Z - Isoniazid exposure + Isoniazid exposure @@ -715034,7 +718807,7 @@ second to fifth metatarsophalangeal joints, and wrists. The cavum septum pellucidum (CSP) is an important fetal midline forebrain landmark that is normally visible by prenatal sonography. This term refers to the lack of visiblity of the CSP on prenatal sonography. The CSP normally can be visualized between 18 and 37 weeks of gestation. Lack of visualization of the CSP in this time period generally requires follow up and may indicate the presence of underlying malformations such as malformations of the corpus callosum. The lack of CSP before 18 weeks or after 37 weeks of gestation (or postnatally) is considered a normal finding. 2023-01-18T19:01:30Z - Absent cavum septum pellucidum + Absent cavum septum pellucidum @@ -715055,7 +718828,7 @@ second to fifth metatarsophalangeal joints, and wrists. Foetal abdominal cyst Foetal cystic abdominal mass Fetal ultrasound cannot always distinguish the origin of a cystic lesion in the abdominal region. - Fetal abdominal cyst + Fetal abdominal cyst @@ -715088,7 +718861,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2023-01-19T07:12:40Z Foetal bowel dilatation Prenatal ultrasound: bowel loops dilated - Fetal bowel dilatation + Fetal bowel dilatation @@ -715106,7 +718879,7 @@ second to fifth metatarsophalangeal joints, and wrists. Enlargement of the chamber of the left heart ventricle. 2023-01-19T07:23:27Z Dilated left heart ventricle - Left ventricular dilatation + Left ventricular dilatation @@ -715122,7 +718895,7 @@ second to fifth metatarsophalangeal joints, and wrists. Strawberry skull Strawberry-shaped skull Fetal trigonocephaly can be seen in trisomy 18 (or other chromosomal abnormalities) and monogenic syndromes, particularly also in craniosynostosis syndromes and some skeletal dysplasias. - Fetal trigonocephaly + Fetal trigonocephaly @@ -715148,7 +718921,7 @@ second to fifth metatarsophalangeal joints, and wrists. A prenatal anomaly of the outflow tract. Fetal ultrasound may not always be able to easily and accurately describe the outflow anomaly, but can detect abnormal anatomy. Often, follow up with a fetal echo is recommended, but fetal ultrasound is limited. 2023-01-19T07:38:07Z The left ventricular outflow tract is the anatomic structure through which the left ventricular stroke volume passes towards the aorta. The right ventricular outflow tract is the structure through which the right ventricular stroke volume passes to the pulmonary artery. - Abnormal fetal heart outflow tract + Abnormal fetal heart outflow tract @@ -715159,7 +718932,7 @@ second to fifth metatarsophalangeal joints, and wrists. History of events that precede the current presenting condition and are thought to be of potential relevance, having occurred in the hours, days, or weeks before the current condition. 2023-01-22T11:26:04Z - Recent past medical history + Recent past medical history @@ -715171,7 +718944,7 @@ second to fifth metatarsophalangeal joints, and wrists. Medical history of a viral illness in recent weeks. 2023-01-22T11:27:58Z Antecedent viral illness - History of recent viral illness + History of recent viral illness @@ -715182,7 +718955,7 @@ second to fifth metatarsophalangeal joints, and wrists. Medical history of a dental procedure in recent weeks. 2023-01-22T12:02:34Z - History of recent dental procedure + History of recent dental procedure @@ -715193,7 +718966,7 @@ second to fifth metatarsophalangeal joints, and wrists. Any structural anomaly of the hepatic artery or its branches. 2023-01-22T12:05:38Z - Abnormal hepatic artery morphology + Abnormal hepatic artery morphology @@ -715204,7 +718977,7 @@ second to fifth metatarsophalangeal joints, and wrists. Abnormal increase in size of the hepatic arteries. 2023-01-22T12:07:40Z - Hepatic artery hyperplasia + Hepatic artery hyperplasia @@ -715216,7 +718989,7 @@ second to fifth metatarsophalangeal joints, and wrists. Areas of necrotic tissue within a lymph node. 2023-01-22T12:20:59Z Necrosis in lymph node - Lymph node necrosis + Lymph node necrosis @@ -715233,7 +719006,7 @@ second to fifth metatarsophalangeal joints, and wrists. Neurons that contain more than one nucleus. 2023-01-22T12:27:43Z - Multinucleated neuron + Multinucleated neuron @@ -715244,7 +719017,7 @@ second to fifth metatarsophalangeal joints, and wrists. A history of an injury that occurred several hours, days, or weeks before the current presenting complaint and is located on the other side of the body relative to the current presenting complaint. 2023-01-25T10:09:12Z - History of recent contralateral injury + History of recent contralateral injury @@ -715256,7 +719029,7 @@ second to fifth metatarsophalangeal joints, and wrists. Occuring on the left and right in succession. This term can refer to alternating sides of the body (e.g., Alternating hemiplegia) or alternative sides of the visual field (e.g., some migraine auras). 2023-01-25T10:17:39Z Alternating sides of the body - Alternating laterality + Alternating laterality @@ -715268,7 +719041,7 @@ second to fifth metatarsophalangeal joints, and wrists. A benign tumor arising from the epithelial surface of the cervix and usually caused by Human Papillomavirus infection. 2023-01-25T10:25:55Z Cervix squamous papilloma - Cervical squamous cell papilloma + Cervical squamous cell papilloma @@ -715286,7 +719059,7 @@ second to fifth metatarsophalangeal joints, and wrists. A benign smooth muscle neoplasm that arises in the liver. 2023-01-25T10:31:34Z Hepatic leiomyoma - Liver leiomyoma + Liver leiomyoma @@ -715303,7 +719076,7 @@ second to fifth metatarsophalangeal joints, and wrists. Description of conditions in which only an incomplete but relatively high proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for incomplete, but high penetrance, but we suggest that this term be applied if at least 80 percent but less than 100 percent of individuals with the given genotype would manifest the disease with a full lifespan. 2023-01-26T17:14:28Z - Typified by high penetrance + Typified by high penetrance @@ -715314,7 +719087,7 @@ second to fifth metatarsophalangeal joints, and wrists. Description of conditions in which only a moderate proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for moderate penetrance, but we suggest that this term be applied if at least 20 percent but less than 80 percent of individuals with the given genotype would manifest the disease with a full lifespan. 2023-01-26T17:18:16Z - Typified by moderate penetrance + Typified by moderate penetrance @@ -715325,7 +719098,7 @@ second to fifth metatarsophalangeal joints, and wrists. Description of conditions in which only a low proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for low penetrance, but we suggest that this term be applied if at least some but less than 20 percent of carriers would manifest the disease with a full lifespan. 2023-01-26T17:19:09Z - Typified by low penetrance + Typified by low penetrance @@ -715338,7 +719111,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2023-02-17T21:00:45Z SCOT activity low in fibroblasts Succinyl-CoA: 3-ketoacid CoA transferase (SCOT; EC 2.8.3.5, gene symbol OXCT1) is a mitochondrial homodimer essential for ketone body utilization. - Decreased Succinyl-CoA 3-ketoacid CoA transferase activity + Decreased Succinyl-CoA 3-ketoacid CoA transferase activity @@ -715363,7 +719136,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2023-02-17T21:07:33Z Decreased phytanoyl-CoA hydroxylase activity PhyH activity low in fibroblasts - Reduced phytanic acid oxidase activity in cultured fibroblasts + Reduced phytanic acid oxidase activity in cultured fibroblasts @@ -715382,7 +719155,7 @@ second to fifth metatarsophalangeal joints, and wrists. Diminished activity of hydroxysteroid 17-beta dehydrogenase 4 (HSD17B4), also known as D-bifunctional protein (DBP), a peroxisomal enzyme that catalyzes multiple steps of beta-oxidation of very long chain fatty acids. 2023-02-17T21:09:29Z Reduced 17-beta-hydroxysteroid dehydrogenase 4 activity - Reduced bifunctional protein activity + Reduced bifunctional protein activity @@ -715401,7 +719174,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2023-02-17T21:35:55Z Reduced circulating plasmalogen concentration Plasmalogens are a class of membrane glycerophospholipids that contain a vinyl-ether linked alkyl chain at the sn-1 position of the glycerol backbone and, typically, a polyunsaturated fatty acyl chain at the sn-2 position. - Decreased circulating plasmalogen concentration + Decreased circulating plasmalogen concentration @@ -715419,7 +719192,7 @@ second to fifth metatarsophalangeal joints, and wrists. Infection with live, attenuated varicella-zoster virus following vaccination. This is an extremely rare event that may indicate immunocompromise. 2023-02-17T21:40:59Z Varicella zoster virus infection after vaccination - Post-vaccination varicella zoster virus infection + Post-vaccination varicella zoster virus infection @@ -715437,7 +719210,7 @@ second to fifth metatarsophalangeal joints, and wrists. History of having been treated with corticosteroid medications in recent weeks. 2023-02-17T22:08:45Z History of recent steroid use - Recent steroid exposure + Recent steroid exposure @@ -715451,7 +719224,7 @@ second to fifth metatarsophalangeal joints, and wrists. Cauliflower teeth Double-parked teeth Teeth: double row - Shark teeth + Shark teeth @@ -715462,7 +719235,7 @@ second to fifth metatarsophalangeal joints, and wrists. A darker than expected T2 signal on magnetic resonance imaging (MRI) of the pons. 2023-02-17T22:18:17Z - Pontine T2 hypointensity + Pontine T2 hypointensity @@ -715480,7 +719253,7 @@ second to fifth metatarsophalangeal joints, and wrists. The presence of autoantibodies (immunoglobulins) in the serum that react against antigens present on the surface of thrombocytes such as the glycoproteins GPIIb/IIIa, GPIb/IX, and GPIa/IIa. 2023-02-17T22:32:33Z Antiplatelet antibodies present - Anti-platelet antigen antibody positivity + Anti-platelet antigen antibody positivity @@ -715493,7 +719266,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2023-02-17T22:35:59Z Voltage gated potassium channel antibodies in blood Voltage-gated potassium channels represent a family of transmembrane channels responsible for returning the depolarized cell to a resting state after each nerve impulse. - Anti-voltage-gated potassium channel antibody positivity + Anti-voltage-gated potassium channel antibody positivity @@ -715510,7 +719283,7 @@ second to fifth metatarsophalangeal joints, and wrists. A history of following a vegan diet characterized by avoidance of food sourced from animals including meet, fish, and dairy products. 2023-02-17T23:02:53Z - Vegan diet + Vegan diet @@ -715522,7 +719295,7 @@ second to fifth metatarsophalangeal joints, and wrists. One or more previous pregnancies in which the fetus developed hydrops fetalis. 2023-02-17T23:04:51Z History of hydrops fetalis in newborn offspring - History of previous pregnancy with hydrops fetalis + History of previous pregnancy with hydrops fetalis @@ -715534,7 +719307,7 @@ second to fifth metatarsophalangeal joints, and wrists. Applies to a sign or symptom that is improved or made more bearable by ingesting a potassium supplement. 2023-02-19T16:19:21Z Potassium supplements alleviate attacks - Ameliorated by potassium supplements + Ameliorated by potassium supplements @@ -715547,7 +719320,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2023-02-19T16:20:58Z Ameliorated by vitamin B3 Niacin reverses symptoms - Ameliorated by niacin + Ameliorated by niacin @@ -715558,7 +719331,7 @@ second to fifth metatarsophalangeal joints, and wrists. Applied to a sign or symptom that is worsened by treatment with a medication. 2023-02-19T16:22:53Z - Aggravated by exposure to medication + Aggravated by exposure to medication @@ -715570,7 +719343,7 @@ second to fifth metatarsophalangeal joints, and wrists. Applies to bleeding that is significantly reduced by treatment with vitamin K. 2023-02-19T16:25:49Z Vitamin K treatment reduces bleeding significantly - Bleeding ameliorated by vitamin K + Bleeding ameliorated by vitamin K @@ -715581,7 +719354,7 @@ second to fifth metatarsophalangeal joints, and wrists. History of having been treated with an antiretroviral agent. 2023-02-19T16:28:42Z - Anti-retroviral therapy exposure + Anti-retroviral therapy exposure @@ -715598,7 +719371,7 @@ second to fifth metatarsophalangeal joints, and wrists. History of having been treated with a potassium-wasting diuretic such as thiazide (chlorothiazide, chlorthalidone, hydrochlorothiazide, indapamide, metolazone) and loop (bumetanide, ethacrynic acid, furosemide, torsemide) diuretics. 2023-02-19T16:30:55Z - Potassium-wasting diuretic exposure + Potassium-wasting diuretic exposure @@ -715610,7 +719383,7 @@ second to fifth metatarsophalangeal joints, and wrists. History of having been treated with a tricyclic antidepressant medication. 2023-02-19T16:33:59Z Tricyclic antidepressant use - Tricyclic antidepressant exposure + Tricyclic antidepressant exposure @@ -715623,7 +719396,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2023-02-19T16:40:36Z Excessive tooth attrition Excessive wear and tear on teeth - Excessive dental attrition + Excessive dental attrition @@ -715641,7 +719414,7 @@ second to fifth metatarsophalangeal joints, and wrists. Pain improves or worsens with changes in body position. 2023-02-19T16:44:38Z Positional nature to pain - Positionally dependent pain + Positionally dependent pain @@ -715652,7 +719425,7 @@ second to fifth metatarsophalangeal joints, and wrists. Concentration of adenosine triphosphate (ATP) in red blood cells (erythrocytes) outside of the normal range. 2023-05-05T02:19:21Z - Abnormal erythrocyte adenosine triphosphate concentration + Abnormal erythrocyte adenosine triphosphate concentration @@ -715663,7 +719436,7 @@ second to fifth metatarsophalangeal joints, and wrists. Concentration of adenosine triphosphate (ATP) in red blood cells (erythrocytes) below the lower limit of normal. 2023-05-05T02:20:54Z - Reduced erythrocyte adenosine triphosphate concentration + Reduced erythrocyte adenosine triphosphate concentration @@ -715675,7 +719448,7 @@ second to fifth metatarsophalangeal joints, and wrists. Concentration of adenosine triphosphate (ATP) in red blood cells (erythrocytes) above the upper limit of normal. 2023-05-05T04:39:34Z Adenosine triphosphate (ATP) high in erythrocytes - Elevated erythrocyte adenosine triphosphate concentration + Elevated erythrocyte adenosine triphosphate concentration @@ -715687,7 +719460,7 @@ second to fifth metatarsophalangeal joints, and wrists. A type of spermatogenesis maturation arrest in which the block of developmental occurs in the spermatogonial stage. Testicular histology shows seminiferous tubules with Sertoli cells and spermatogonial cells but no further differentiated cells like spermatocytes or round spermatids. 2023-08-31T12:06:09Z Spermatogonial arrest - Spermatogonial maturation arrest + Spermatogonial maturation arrest @@ -715700,7 +719473,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2023-09-17T13:48:24Z Neuron-specific enolase high in blood Neuron-specific enolase (NSE) is an important tumor marker in the serum of patients with lung cancer. Elevated serum NSE levels are also associated with neuroblastoma, neuroendocrine neoplasms, renal cell carcinoma, multiple myeloma, brain trauma, Guillain-Barre syndrome, and other diseases. - Elevated circulating neuron-specific enolase concentration + Elevated circulating neuron-specific enolase concentration @@ -715717,7 +719490,7 @@ second to fifth metatarsophalangeal joints, and wrists. Concentration or activity of an alpha-mannosidase as measured in leukocytes is below the limits of normal. 2023-09-17T13:58:59Z - Reduced leukocyte alpha-mannosidase activity + Reduced leukocyte alpha-mannosidase activity @@ -715728,7 +719501,7 @@ second to fifth metatarsophalangeal joints, and wrists. Concentration or activity of alpha mannosidase above the upper limit of normal in the blood circulation. 2023-09-17T14:01:33Z - Increased circulating alpha-mannosidase activity + Increased circulating alpha-mannosidase activity @@ -715739,7 +719512,7 @@ second to fifth metatarsophalangeal joints, and wrists. Concentration or activity of cathepsin D as measured in leukocytes is below the limits of normal. The reduction in cathepsin D activity can also be measured in fibroblasts. 2023-09-17T14:05:42Z - Reduced leukocyte cathepsin D activity + Reduced leukocyte cathepsin D activity @@ -715751,7 +719524,7 @@ second to fifth metatarsophalangeal joints, and wrists. Concentration or activity of N-sulfoglucosamine sulfohydrolase as measured in leukocytes is below the limits of normal. 2023-09-17T14:21:50Z Reduced leukocyte N-sulphoglucosamine sulphohydrolase activity - Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity + Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity @@ -715769,7 +719542,7 @@ second to fifth metatarsophalangeal joints, and wrists. Pseudohyperkalemia describes a falsely elevated potassium level upon measurement of the serum electrolyte concentration due to disruption of cells during the collection or processing of the sample. 2023-09-17T14:26:14Z Pseudohyperkalemia is an elevation of potassium in the serum that results during collection, storage, or handling of a blood sample, and is not representative of the potassium level in vivo. Pseudohyperkalemia can result from increased tourniquet tension, increased pressure from a patient's fist being clenched, or mechanical lysis of hematocytes during pneumatic tube delivery of samples to the laboratory or the centrifugation process. - Pseudohyperkalemia + Pseudohyperkalemia @@ -715786,7 +719559,7 @@ second to fifth metatarsophalangeal joints, and wrists. Concentration or activity of an enzyme is above or below the limits of normal in cultured fibroblasts. Fibroblasts are easy to grow in culture and are the main cell type involved in producing extracellular matrix. They are used as a convenient model system for measuring enzyme activity for enzymes that are not expressed in blood cells. Usually, the test is done in fibroblasts for convenience rather than for the investigation of a pathophysiology specific to fibroblasts. 2023-09-17T14:31:02Z - Abnormal enzyme activity in cultured fibroblasts + Abnormal enzyme activity in cultured fibroblasts @@ -715797,7 +719570,7 @@ second to fifth metatarsophalangeal joints, and wrists. Concentration or activity of N-sulfoglucosamine sulfohydrolase as measured in cultured fibroblasts is below the limits of normal. 2023-09-17T14:35:01Z - Reduced heparan-alpha-glucosaminide N-acetyltransferase activity in cultured fibroblasts + Reduced heparan-alpha-glucosaminide N-acetyltransferase activity in cultured fibroblasts @@ -715808,7 +719581,7 @@ second to fifth metatarsophalangeal joints, and wrists. Concentration or activity of N-acetylgalactosamine-6-sulfate sulfatase as measured in cultured fibroblasts is below the limits of normal. 2023-09-17T14:40:04Z - Reduced N-acetylgalactosamine-6-sulfate sulfatase in cultured fibroblasts + Reduced N-acetylgalactosamine-6-sulfate sulfatase in cultured fibroblasts @@ -715820,7 +719593,7 @@ second to fifth metatarsophalangeal joints, and wrists. Concentration or activity of N-acetylglucosamine-6-sulfatase (EC 3.1.6.14) as measured in cultured fibroblasts is below the limits of normal. N-acetylglucosamine-6-sulfatase hydrolyzes heparan sulfate and keratan sulfate. 2023-09-17T15:02:26Z - Reduced acetylglucosamine-6-sulfate sulfatase activity in cultured fibroblasts + Reduced acetylglucosamine-6-sulfate sulfatase activity in cultured fibroblasts @@ -715832,7 +719605,7 @@ second to fifth metatarsophalangeal joints, and wrists. Activity or concentration of in the level of porphobilinogen deaminase (EC 4.3.1.8) in erythrocytes below the lower limit of normal. 2023-09-17T15:06:27Z - Reduced erythrocyte porphobilinogen deaminase activity + Reduced erythrocyte porphobilinogen deaminase activity @@ -715844,7 +719617,7 @@ second to fifth metatarsophalangeal joints, and wrists. Concentration or activity of holocarboxylase synthetase (EC 6.3.4.10) as measured in cultured fibroblasts is below the limits of normal. 2023-09-17T15:11:24Z - Reduced holocarboxylase synthetase activity in cultured fibroblasts + Reduced holocarboxylase synthetase activity in cultured fibroblasts @@ -715856,7 +719629,7 @@ second to fifth metatarsophalangeal joints, and wrists. Concentration or activity of alpha mannosidase outside of the limits of normal in the blood circulation. 2023-09-17T15:16:34Z - Abnormal circulating alpha mannosidase activity + Abnormal circulating alpha mannosidase activity @@ -715868,7 +719641,7 @@ second to fifth metatarsophalangeal joints, and wrists. Concentration or activity of alpha-N-acetylgalactosaminidase (EC 3.2.1.49) as measured in cultured fibroblasts is below the limits of normal. 2023-09-17T15:29:26Z - Reduced alpha-N-acetylgalactosaminidase activity in cultured fibroblasts + Reduced alpha-N-acetylgalactosaminidase activity in cultured fibroblasts @@ -715880,7 +719653,7 @@ second to fifth metatarsophalangeal joints, and wrists. Activity or concentration of arginase (EC 3.5.3.1) in red blood cells below the lower limit of normal. Arginase catalyzes the last step of the urea cycle. 2023-09-17T15:31:59Z - Reduced erythrocyte arginase activity + Reduced erythrocyte arginase activity @@ -715893,7 +719666,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2023-09-17T21:49:52Z Mitochondrial acetyl-CoA acetyltransferase is a short-chain-length-specific thiolase that is encoded by the ACAT1 gene. - Reduced mitochondrial acetyl-CoA acetyltransferase activity in cultured fibroblasts + Reduced mitochondrial acetyl-CoA acetyltransferase activity in cultured fibroblasts @@ -715906,7 +719679,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2023-09-17T21:53:16Z Beta-mannosidase is a lysosomal enzyme that catalyzes the final exoglycosidase step in the degradation pathway for N-linked oligosaccharide moieties of glycoproteins. - Reduced beta-mannosidase activity in cultured fibroblasts + Reduced beta-mannosidase activity in cultured fibroblasts @@ -715919,7 +719692,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2023-09-17T21:56:23Z 3-methylcrotonyl CoA carboxylase low in fibroblasts - Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblasts + Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblasts @@ -715932,7 +719705,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2023-09-17T21:59:46Z Branched-chain alpha-keto acid dehydrogenase complex is an inner-mitochondrial enzyme complex that catalyzes the oxidative decarboxylation of the branched-chain alpha-ketoacids derived from isoleucine, leucine, and valine. - Reduced branched-chain alpha-keto acid dehydrogenase activity in cultured fibroblasts + Reduced branched-chain alpha-keto acid dehydrogenase activity in cultured fibroblasts @@ -715945,7 +719718,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2023-09-17T22:04:45Z Galactose-1-phosphate uridylyltransferase is the second enzyme in the galactose metabolic pathway. - Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity + Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity @@ -715957,7 +719730,7 @@ second to fifth metatarsophalangeal joints, and wrists. Activity of adenosine deaminase in red blood cells outside the limits of normal. 2023-09-17T22:06:20Z - Abnormal erythrocyte adenosine deaminase activity + Abnormal erythrocyte adenosine deaminase activity @@ -715969,7 +719742,7 @@ second to fifth metatarsophalangeal joints, and wrists. Acitivity of isovaleryl-CoA dehydrogenase (EC 1.3.99.10) below the lower limit of normal in cultured fibroblasts. 2023-09-17T22:14:48Z - Reduced isovaleryl CoA dehydrogenase activity in cultured fibroblasts + Reduced isovaleryl CoA dehydrogenase activity in cultured fibroblasts @@ -715981,7 +719754,7 @@ second to fifth metatarsophalangeal joints, and wrists. Acitivity of glycerol kinase (EC 2.7.1.30) below the lower limit of normal in cultured fibroblasts. 2023-09-17T22:17:38Z - Reduced glycerol kinase activity in cultured fibroblasts + Reduced glycerol kinase activity in cultured fibroblasts @@ -715994,7 +719767,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2023-09-17T22:35:26Z Vitamin A high in blood - Increased circulating vitamin A concentration + Increased circulating vitamin A concentration @@ -716067,7 +719840,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2023-09-17T22:37:49Z Hyaluronic acid high in blood - Elevated circulating hyaluronic acid concentration + Elevated circulating hyaluronic acid concentration @@ -716080,7 +719853,7 @@ second to fifth metatarsophalangeal joints, and wrists. 2023-10-28T10:06:14Z Decreased breath sounds - Diminished breath sounds + Diminished breath sounds @@ -717290,7 +721063,7 @@ second to fifth metatarsophalangeal joints, and wrists. - Abnormal movements of face and head + Steroetypic movements of face and head @@ -717305,7 +721078,7 @@ second to fifth metatarsophalangeal joints, and wrists. - Abnormal movements of the upper extremities + Steroetypic upper-extremity movements @@ -717320,7 +721093,7 @@ second to fifth metatarsophalangeal joints, and wrists. - Abnormal movements of the whole body + Stereotypic whole-body movements @@ -717421,21 +721194,21 @@ second to fifth metatarsophalangeal joints, and wrists. - A reduced ability to imitate a task or the movements of others. + Reduced use of imitation of tasks or movements of others in play or learning. HP:5200032 - Dcreased imitation of others + Decreased imitation of others Reduced immediate imitation of others - The ability to imitate others is common in children during early cognitive development (4-5 years old) and can be abnormal in children with autism. + The ability to imitate others is common in children during early cognitive development (4-5 years old) and can be abnormal in children with developmental delay. Impaired social imitation - A reduced ability to imitate a task or the movements of others. + Reduced use of imitation of tasks or movements of others in play or learning. PMID:18221343 @@ -717599,7 +721372,7 @@ second to fifth metatarsophalangeal joints, and wrists. Reduced empathic arousal Reduced sympathetic expression Empathy can be defined as the ability to explain, predict and interpret behavior by attributing mental states such as desire, beliefs, intentions and emotions to oneself and to other people. Empathy cannot be directly observed. - Lack of expressed empath + Lack of expressed empathy @@ -717837,11 +721610,7 @@ second to fifth metatarsophalangeal joints, and wrists. Checking behaviours - - - - - + @@ -718325,7 +722094,7 @@ second to fifth metatarsophalangeal joints, and wrists. Atypically low ability to process social information and respond appropriately in interpersonal interactions - This feature may be inferred based on a parents perception that a child has difficulties interpreting social cues accurately. Attempts to quantify this feature have included the Social Responsiveness Scale. Individuals with autism spectrum disorder, social anxiety disorder, or other developmental or mental health disorders may display reduced social responsiveness + This feature may be inferred based on a parent's perception that a child has difficulties interpreting social cues accurately. Attempts to quantify this feature have included the Social Responsiveness Scale. Individuals with autism spectrum disorder, social anxiety disorder, or other developmental or mental health disorders may display reduced social responsiveness Reduced social responsiveness @@ -718411,7 +722180,7 @@ second to fifth metatarsophalangeal joints, and wrists. - An atypically low tendency to offer information as a means to initiate social interactions or direct another's attention. + An atypically low tendency to offer information as a means to initiate or sustain social interactions or direct another's attention. This term refers specifically to offering information in order to initiate social interactions and should not be applied to a person who is reluctant to offer information when prompted. Failure to offer information to initiate social interaction @@ -718460,7 +722229,7 @@ second to fifth metatarsophalangeal joints, and wrists. - Social emotional interactions refer to the exchange of feelings during social interactions by means of a wide range of communicative behaviors including facial expressions, body langauge, and verbal communication. This term refers to an atypically low production of emotion social communication by an individual. + Social emotional interactions refer to the exchange of feelings during social interactions by means of a wide range of communicative behaviors including facial expressions, body language, and verbal communication. This term refers to an atypically low production of emotion social communication by an individual. Abnormality in emotional social interactions Abnormal social emotional interactions @@ -719207,7 +722976,8 @@ second to fifth metatarsophalangeal joints, and wrists. - Thought disorder + Thought disorder + Disorganized speech or communication @@ -720144,6 +723914,7 @@ second to fifth metatarsophalangeal joints, and wrists. + Increased sexual behavior Increased sexual behaviour Engaging in riskier sexual practices, experiencing a significant increase in frequency, having multiple sexual partners, or spending excessive time on sexual activities can become disproportionate to other aspects of a person's life. Increase in sexual behavior @@ -720155,6 +723926,12 @@ second to fifth metatarsophalangeal joints, and wrists. PMID:24001164 PMID:26851616 + + + + Increased sexual behaviour + + @@ -720237,6 +724014,7 @@ second to fifth metatarsophalangeal joints, and wrists. + Decreased sexual behavior Decreased sexual behaviour Hyposexuality Diminishment of sexual behavior @@ -720247,6 +724025,12 @@ second to fifth metatarsophalangeal joints, and wrists. A reduction of libido (sexual desire), typically accompanied by a reduction in the frequency of sexual activity , and/or activity compared to the affected individual's previous state. PMID:36735118 + + + + Decreased sexual behaviour + + @@ -721530,7 +725314,7 @@ second to fifth metatarsophalangeal joints, and wrists. Congenital abnormality with cleft (gap or opening) in the craniofacial bones. Craniofacial cleft includes facial cleft, orofacial clef, and cleft of the jaw. - Craniofacial cleft + Craniofacial cleft @@ -721547,7 +725331,7 @@ second to fifth metatarsophalangeal joints, and wrists. A cleft of the muscular portion of the palate that is covered by mucous membrane. - Submucous cleft palate + Submucous cleft palate @@ -721998,7 +725782,7 @@ second to fifth metatarsophalangeal joints, and wrists. - A phenomenon whereby stimulation of one sensory or cognitive pathway leads to automatic, involuntary experiences in a second sensory or cognitive pathway. For instance, people with synaesthesia may experience unusual colours, tastes, and other sensations when engaged in everyday activities like reading or listening to music. + A phenomenon whereby stimulation of one sensory or cognitive pathway leads to automatic, involuntary experiences in a second sensory or cognitive pathway. For instance, people with synaesthesia may experience unusual colors, tastes, and other sensations when engaged in everyday activities like reading or listening to music. Synesthesia @@ -722006,7 +725790,7 @@ second to fifth metatarsophalangeal joints, and wrists. - A phenomenon whereby stimulation of one sensory or cognitive pathway leads to automatic, involuntary experiences in a second sensory or cognitive pathway. For instance, people with synaesthesia may experience unusual colours, tastes, and other sensations when engaged in everyday activities like reading or listening to music. + A phenomenon whereby stimulation of one sensory or cognitive pathway leads to automatic, involuntary experiences in a second sensory or cognitive pathway. For instance, people with synaesthesia may experience unusual colors, tastes, and other sensations when engaged in everyday activities like reading or listening to music. PMID:32114456 @@ -722036,7 +725820,7 @@ second to fifth metatarsophalangeal joints, and wrists. - A history of high intake of spciy foods with ingrediaents such as capsaicin, pepper, chilli, ginger, garlic, onion, fenugreek, and turmeric. + A history of high intake of spciy foods with ingrediaents such as capsaicin, pepper, chili, ginger, garlic, onion, fenugreek, and turmeric. History of spicy food intake @@ -722880,7 +726664,7 @@ second to fifth metatarsophalangeal joints, and wrists. - Vasculitis (inflammation of blood vessels) in the kidney. Renal vasculitis can be observed with numerous disorders and presents clinically as rapidly progressive glomerulonephritis (RPGN) which is characterised by acute kidney injury (AKI), haematuria and proteinuria. Histological examination of the kidney reveals severe inflammation in the form of crescent formation, glomerular necrosis and vasculitis of small and medium sized vessels within the kidney. + Vasculitis (inflammation of blood vessels) in the kidney. Renal vasculitis can be observed with numerous disorders and presents clinically as rapidly progressive glomerulonephritis (RPGN) which is characterized by acute kidney injury (AKI), haematuria and proteinuria. Histological examination of the kidney reveals severe inflammation in the form of crescent formation, glomerular necrosis and vasculitis of small and medium sized vessels within the kidney. Renal vasculitis @@ -722888,7 +726672,7 @@ second to fifth metatarsophalangeal joints, and wrists. - Vasculitis (inflammation of blood vessels) in the kidney. Renal vasculitis can be observed with numerous disorders and presents clinically as rapidly progressive glomerulonephritis (RPGN) which is characterised by acute kidney injury (AKI), haematuria and proteinuria. Histological examination of the kidney reveals severe inflammation in the form of crescent formation, glomerular necrosis and vasculitis of small and medium sized vessels within the kidney. + Vasculitis (inflammation of blood vessels) in the kidney. Renal vasculitis can be observed with numerous disorders and presents clinically as rapidly progressive glomerulonephritis (RPGN) which is characterized by acute kidney injury (AKI), haematuria and proteinuria. Histological examination of the kidney reveals severe inflammation in the form of crescent formation, glomerular necrosis and vasculitis of small and medium sized vessels within the kidney. PMID:31927782 @@ -723675,7 +727459,7 @@ second to fifth metatarsophalangeal joints, and wrists. - + The amount of dolichol in the urine, normalized for urine concentration, is above the upper limit of normal. @@ -725517,8 +729301,9 @@ second to fifth metatarsophalangeal joints, and wrists. Concentration of an enyzme in a tissue is above or between the limit of normal. This term is intended to be used for enzymes that can be measured in multiple tissues other than blood. + Abnormal tissue enzyme activity For enzymes measured in the blood circulation, the term Abnormal circulating enzyme concentration or activity should be used. - Abnormal tissue enzyme activity + Abnormal tissue enzyme concentration or activity @@ -725563,7 +729348,67 @@ second to fifth metatarsophalangeal joints, and wrists. + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + The concentration of dihydroxyphenylacetic acid in the blood circulation is above the upper limit of normal. @@ -726124,7 +729969,67 @@ second to fifth metatarsophalangeal joints, and wrists. + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + The concentration of methionine sulfoxide in the blood circulation is above the upper limit of normal. @@ -726137,7 +730042,67 @@ second to fifth metatarsophalangeal joints, and wrists. + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + The concentration of pipecolic acid in the blood circulation is above the upper limit of normal. @@ -726176,7 +730141,67 @@ second to fifth metatarsophalangeal joints, and wrists. + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Concentration in the bloodstream of glycylproline above the upper limit of normal. Glycylproline is a dipeptide composed of glycine and proline, and is an end product of collagen metabolism that is further cleaved by prolidase (EC 3.4.13.9). @@ -726946,7 +730971,7 @@ second to fifth metatarsophalangeal joints, and wrists. - Mosaic attenuation pattern in the lung is a term used to describe regions of differing pulmonary attenuation on CT imaging. It is a non-specific finding, although is associated with several conditions such as obstructive small airway disease, occlusive vascular disease (in which case is called mosaic perfusion pattern), pulmonary oedema, and parenchymal diseases. + Mosaic attenuation pattern in the lung is a term used to describe regions of differing pulmonary attenuation on CT imaging. It is a non-specific finding, although is associated with several conditions such as obstructive small airway disease, occlusive vascular disease (in which case is called mosaic perfusion pattern), pulmonary edema, and parenchymal diseases. Mosaic attenuation pattern in lung @@ -727915,7 +731940,7 @@ second to fifth metatarsophalangeal joints, and wrists. - + An increased concentration of interleukin-1beta in the blood circulation. @@ -728447,7 +732472,7 @@ second to fifth metatarsophalangeal joints, and wrists. - + The concentration of fibroblast growth factor 23 in the blood circulation is above the upper limit of normal. @@ -728901,7 +732926,7 @@ second to fifth metatarsophalangeal joints, and wrists. The concentration of ghrelin in the blood circulation is above the upper limit of normal. Ghrelin is a 28-amino-acid peptide predominantly secreted in the stomach and stimulates appetite and growth hormone (GH) release. - Ghrelin exercises a wide range of functions including, regulation of food intake and energy metabolism, stimulation of gastric acid secretion, motility and pancreatic protein output, modulation of cardiovascular function, stimulation of osteoblast proliferation and bone formation, stimulation of neurogenesis and myogenesis, learning and memory, thymopoiesis, sleep/wake rhythm, ageing and a neuroprotective role in neurodegenerative diseases (e.g., Parkinson's disease). + Ghrelin exercises a wide range of functions including, regulation of food intake and energy metabolism, stimulation of gastric acid secretion, motility and pancreatic protein output, modulation of cardiovascular function, stimulation of osteoblast proliferation and bone formation, stimulation of neurogenesis and myogenesis, learning and memory, thymopoiesis, sleep/wake rhythm, aging and a neuroprotective role in neurodegenerative diseases (e.g., Parkinson's disease). Elevated circulating ghrelin concentration @@ -728941,7 +732966,7 @@ second to fifth metatarsophalangeal joints, and wrists. - + The concentration of interleukin 15 (IL-15) in the blood circulation is above the upper limit of normal. @@ -728974,7 +732999,7 @@ second to fifth metatarsophalangeal joints, and wrists. - + Any deviation from the normal range of the concentration of interleukin 6 (IL-6) in the blood circulation. @@ -728993,7 +733018,7 @@ second to fifth metatarsophalangeal joints, and wrists. - + Any deviation from the normal range of the concentration of interleukin 12 in the blood circulation. @@ -729062,7 +733087,7 @@ second to fifth metatarsophalangeal joints, and wrists. - + The concentration in the blood circulation of a member of the CC chemokine family is outside of normal limits. @@ -729108,6 +733133,4151 @@ second to fifth metatarsophalangeal joints, and wrists. + + + + + A history of exposure by inhalation of airborne particles generated during the processing of raw, nonsynthetic textiles, particularly cotton. Classically, exposure to cotton dust during the spinning and manufacturing process causes byssinosis. However, exposure to jute, flax, and hemp fibers has also been implicated in its development. + + + Occupational exposure to raw nonsynthetic textiles + + + + + A history of exposure by inhalation of airborne particles generated during the processing of raw, nonsynthetic textiles, particularly cotton. Classically, exposure to cotton dust during the spinning and manufacturing process causes byssinosis. However, exposure to jute, flax, and hemp fibers has also been implicated in its development. + PMID:30137833 + + + + + + + + + Localized or diffuse epithelial proliferation with hypertrophy of the muscularis layer and invagination of the mucosa through the muscularis, forming intramural diverticula (i.e., small, bulging pouches in the wall of the gallbladder). + + + Adenomyomatosis of the gallbladder + Epithelial invaginations of the gallbladder forming cystic pockets + Rokitansky-Aschoff gallbladder sinuses + + + + + Localized or diffuse epithelial proliferation with hypertrophy of the muscularis layer and invagination of the mucosa through the muscularis, forming intramural diverticula (i.e., small, bulging pouches in the wall of the gallbladder). + PMID:31984708 + + + + + + + + + Porcelain gallbladder refers to the condition in which the inner gallbladder wall is encrusted with calcium. The wall becomes brittle, hard, and often takes on a bluish hue. It is usually found incidentally on plain abdominal x-rays or other imaging because most patients are asymptomatic. + + + Calcified gallbladder + Calcifying cholecystitis + Cholecystopathia chronica calcarea + Most cases of porcelain gallbladder are asymptomatic. However, some patients do exhibit signs of chronic cholecystitis. Patients with chronic cholecystitis usually present with dull right upper abdominal pain that radiates to the mid back or right scapular tip. It is usually associated with fatty food ingestion. The classic physical examination will demonstrate right upper abdominal pain with deep palpation (Murphy's sign). If the patient is very thin or if the gallbladder is enlarged, a firm, hard gallbladder can be palpated in the right upper quadrant of the abdomen. + Porcelain gallbladder + + + + + Porcelain gallbladder refers to the condition in which the inner gallbladder wall is encrusted with calcium. The wall becomes brittle, hard, and often takes on a bluish hue. It is usually found incidentally on plain abdominal x-rays or other imaging because most patients are asymptomatic. + PMID:30085521 + + + + + + + + + Strands of scar tissue bands of scar tissue that form an abnormal connection between the gallbladder and another abdominal structure. Adhesions can form followiing gallbladder inflamation (cholecystitis). + + + Gallbladder adhesions + + + + + Strands of scar tissue bands of scar tissue that form an abnormal connection between the gallbladder and another abdominal structure. Adhesions can form followiing gallbladder inflamation (cholecystitis). + PMID:34386223 + + + + + + + + + An abnormal connection between the gallbladder and the duodenum. + + + Bouveret syndrome + Following an attack of acute cholecystitis, the resulting inflammation and adhesion of the gallbladder to GI, together with mechanical pressure applied by gallstones on the gallbladder itself and bowel wall, may result in an ischemic tear of the apposed gallbladder and enteric wall; this mechanism potentiates a fistula between the gallbladder and bowel where the gallstone could pass. Bouveret syndrome is the most infrequent variant of gallstone ileus. It results from a gallstone migrating through a bilioenteric fistula and causing obstruction at the gastric outlet and occasionally in also other portions of the intestine. + Bilioduodenal fistula + + + + + An abnormal connection between the gallbladder and the duodenum. + PMID:28613489 + + + + + + + + + Accumulation of gas in the biliary tree. + + + Aerobilia + Air in the biliary system + Pneumobilia, or air within the biliary tree of the liver, suggests an abnormal communication between the biliary tract and the intestines, or infection by gas-forming bacteria. Pneumobilia usually can be distinguished from air in the portal venous system by its appearance on computed tomography (CT) scan. + Pneumobilia + + + + + Accumulation of gas in the biliary tree. + PMID:16567248 + + + + + + + + + A gallstone located outside of the gallbladder. + + + Gallstone outside of the gallbladder + This feature may be seen following laparoscopic cholecystectomy complicated by gallstone and biliary spillage into the peritoneal cavity or with Bouveret syndrome (bilioduodenal fistula). + Ectopic gallstone + + + + + A gallstone located outside of the gallbladder. + PMID:27471576 + + + + + + + + + Sleep drunkenness refers to the prolonged and pronounced difficulty with awakening from nocturnal sleep and daytime naps. This symptom should be distinguished from the milder and physiologic state of sleep inertia seen even in healthy controls . + + + Sleep drunkeness + + + + + Sleep drunkenness refers to the prolonged and pronounced difficulty with awakening from nocturnal sleep and daytime naps. This symptom should be distinguished from the milder and physiologic state of sleep inertia seen even in healthy controls . + PMID:28778232 + PMID:36401976 + + + + + + + + + Cytoplasmic hyaline inclusions of hepatocytes that are predominantly filamentous ranging from a diameter of 3 to 24 nm vs. 10 nm of classical IF. Mallory-Denk bodies can be classified as type I (parallels filaments), II (randomly orient filaments), or III (granular and amorphous). Type II occurs in the periphery while type III occurs around the center. MDB occur in ballooned hepatocytes. + + + Mallory-Denk bodies + Mallory bodies were once thought to be specific for alcoholic hepatitis but now are known to occur in other liver diseases which include nonalcoholic steatohepatitis, cholestatic liver diseases, primary biliary cirrhosis and hepatocellular carcinoma. + Mallory bodies + + + + + Cytoplasmic hyaline inclusions of hepatocytes that are predominantly filamentous ranging from a diameter of 3 to 24 nm vs. 10 nm of classical IF. Mallory-Denk bodies can be classified as type I (parallels filaments), II (randomly orient filaments), or III (granular and amorphous). Type II occurs in the periphery while type III occurs around the center. MDB occur in ballooned hepatocytes. + PMID:31424884 + + + + + + + + + An abscess containing tiny yellow clumps (sulfur granules), formed by infection with Actinomyces and generally associated with a granulomatous and suppurative infection. + + + Sulfur-containing abscess + + + + + An abscess containing tiny yellow clumps (sulfur granules), formed by infection with Actinomyces and generally associated with a granulomatous and suppurative infection. + PMID:29489261 + + + + + + + + + A condition in which part of the tympanic membrane is pull backed into the middle ear cavity (also called retraction pocket). + + + Retracted tympanic membrane + + + + + A condition in which part of the tympanic membrane is pull backed into the middle ear cavity (also called retraction pocket). + PMID:32890292 + + + + + + + + + Localization of the testis in an anatomic location other than the scrotum. + + + Ectopic testis usually derives from overdevelopment and lengthening of a segment of the gubernaculum or from obstruction of the entrance to the scrotum. differing from undescended testis (cryptorchidism) in that ectopic testis is a congenitally abnormally located testis, that has descended from the abdominal cavity away from the normal path of descent while undescended testis are congenitally abnormally located testis within the normal path of descent. + Ectopic testis + + + + + Localization of the testis in an anatomic location other than the scrotum. + PMID:31211064 + + + + + + + + + A fluid-filled sac (cyst) in the region below the cortex of the cerebrum. In magnetic resonance imaging, the fluid within the cyst has the same appearance as cerebrospinal fluid (CSF). + + + Megalencephalic leukoencephalopathy with subcortical cysts is characterized by subcortical cysts that are present in the anterior temporal region most commonly and often in the frontoparietal region. Later, MRI may only reveal cerebral atrophy. The size and number of the cysts may increase over time. See Figure 1 of PMID:21977097. + Cerebral subcortical cyst + + + + + A fluid-filled sac (cyst) in the region below the cortex of the cerebrum. In magnetic resonance imaging, the fluid within the cyst has the same appearance as cerebrospinal fluid (CSF). + PMID:21977097 + + + + + + + + + The presence of autoantibodies (immunoglobulins) in the blood circulation that react against A Disintegrin and Metalloprotease with ThromboSpondin type 1 repeats, member 13 (ADAMTS13). + + + Immune-mediated TTP, sometimes referred to as acquired TTP, is caused by ADAMTS13 deficiency mediated by autoantibodies. + Anti-ADAMTS13 antibody positivity + + + + + The presence of autoantibodies (immunoglobulins) in the blood circulation that react against A Disintegrin and Metalloprotease with ThromboSpondin type 1 repeats, member 13 (ADAMTS13). + PMID:28416507 + PMID:31107120 + PMID:33540569 + + + + + + + + + A tendency to breathe through the mouth. Defined as over 25-30 percent of the air passing through the mouth instead of the nose, mouth breathing often occurs due to upper airway obstruction which reduces the nasal airflow and forces the air to enter completely or partially through oral cavity. + + + Habitual mouth breathing + + + + + A tendency to breathe through the mouth. Defined as over 25-30 percent of the air passing through the mouth instead of the nose, mouth breathing often occurs due to upper airway obstruction which reduces the nasal airflow and forces the air to enter completely or partially through oral cavity. + PMID:29799704 + PMID:36159237 + + + + + + + + + An appearance of the shoulders whereby the neck-trapezius angle (angle between the neck and the shoulder) and the angle formed by the shoulder and the arms hanging at the side of the body are both close to 90 degrees. This gives the should the appearance of the corner of a square. + + + See Figure 1 of PMID:33258289. + Squared off shoulders + + + + + An appearance of the shoulders whereby the neck-trapezius angle (angle between the neck and the shoulder) and the angle formed by the shoulder and the arms hanging at the side of the body are both close to 90 degrees. This gives the should the appearance of the corner of a square. + PMID:33258289 + + + + + + + + + The amount of mesaconic acid in the urine, normalized for urine concentration, is above the upper limit of normal. + + + Elevated urine mesaconic acid level + + + + + The amount of mesaconic acid in the urine, normalized for urine concentration, is above the upper limit of normal. + PMID:29909962 + + + + + + + + + The amount of 3-methyladipic acid in the urine, normalized for urine concentration, is above the upper limit of normal. + + + Elevated urine 3-methyladipic acid level + + + + + The amount of 3-methyladipic acid in the urine, normalized for urine concentration, is above the upper limit of normal. + PMID:29909962 + + + + + + + + + The amount of D-lactate in the urine, normalized for urine concentration, is above the upper limit of normal. L-lactate is a familiar molecule to the human body and is also produced in large amounts in human tissues, depending on metabolic conditions. In contrast, D-lactate is produced only in minute quantities in human tissues, and is therefore not detectable in the bloodstream under normal physiological conditions. + + https://github.com/obophenotype/human-phenotype-ontology/issues/8641 + Elevated urine D-lactate may be observed with D-lactic aciduria with susceptibility to gout. + Elevated urine D-lactate level + + + + + The amount of D-lactate in the urine, normalized for urine concentration, is above the upper limit of normal. L-lactate is a familiar molecule to the human body and is also produced in large amounts in human tissues, depending on metabolic conditions. In contrast, D-lactate is produced only in minute quantities in human tissues, and is therefore not detectable in the bloodstream under normal physiological conditions. + PMID:30931947 + + + + + + + + + The concentration of alpha-ketoglutarate in the cerebrospinal fluid (CSF) is above the upper limit of normal. + + + Elevated CSF alpha-ketoglutarate concentration + + + + + The concentration of alpha-ketoglutarate in the cerebrospinal fluid (CSF) is above the upper limit of normal. + PMID:30635937 + + + + + + + + + The amount of 2,3-dihydroxy-2-methylbutanoic acidin the urine, normalized for urine concentration, is above the upper limit of normal. + + + 2-methyl-2,3-dihydroxybutyrate high in urine + Elevated urine 2-methyl-2,3-dihydroxybutyrate level + Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level + + + + + The amount of 2,3-dihydroxy-2-methylbutanoic acidin the urine, normalized for urine concentration, is above the upper limit of normal. + PMID:29575569 + + + + + + + + + A swelling or enlargment localized to the oral cavity of a fetus. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. This finding is generally first observed by prenatal sonography or magnetic resonance imaging. + + + Fetal oral masses are usually observed in the second and third trimesters. + Fetal oral mass + + + + + A swelling or enlargment localized to the oral cavity of a fetus. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. This finding is generally first observed by prenatal sonography or magnetic resonance imaging. + PMID:33904194 + + + + + + + + + Increase in diameter of the ejeculatory duct. The ejaculatory duct delivers sperm into the urethra, adding secretions from the prostate and is formed by the union of the vas deferens with the duct of the seminal vesicle. + + + Ejaculatory duct dilated + Dilated ejaculatory duct + + + + + + + + + The concentration of Wiskott-Aldrich syndrome protein in hematopoietic cells is below the lower limit of normal. This feature is measured by flow cytometry or Western blotting. + + + Decreased Wiskott-Aldrich syndrome protein concentration in hematopoietic cells + + + + + + + + + The number of T cells in peripheral blood that express FOXP3-expressing is below the lower limit of normal. This finding is determined by flow cytometry. + + + Decreased FOXP3-expressing T cell count + + + + + The number of T cells in peripheral blood that express FOXP3-expressing is below the lower limit of normal. This finding is determined by flow cytometry. + PMID:20301297 + + + + + + + + + Concentration of a complement component in the blood circulation is above the upper limit of normal. + + + Elevated circulating complement component concentration + + + + + + + + + The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a component of beta-fodrin. + + + Fodrin, a heterodimer composed of alpha and beta subunits, is an abundant protein of eukaryotic cell membrane skeleton. The alpha/beta-fodrin dimers self-associate head-to-head into tetramers and serve as the basic structural element of the membrane skeleton. Individuals with Sjogren syndrome may display antibodies to fodrin. + Anti-beta fodrin antibody positivity + + + + + The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a component of beta-fodrin. + PMID:11673564 + + + + + + + + + The concentration of tetradecenoylcarnitine (C14:1) in the blood circulation is above the upper limit of normal. + + + Elevated circulating tetradecenoylcarnitine concentration + + + + + + + + + The amount of 2-trans,4-cis-decadienoylcarnitine in the urine, normalized for urine concentration, is above the upper limit of normal. + + + Elevated urine 2-trans,4-cis-decadienoylcarnitine level + + + + + + + + + The concentration of 2-trans,4-cis-decadienoylcarnitine in the blood circulation is above the upper limit of normal. + + + 2-trans,4-cis-decadienoylcarnitine is elevated in the blood or plasma of individuals with 2,4-dienoyl-coenzyme a reductase deficiency. + Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration + + + + + The concentration of 2-trans,4-cis-decadienoylcarnitine in the blood circulation is above the upper limit of normal. + PMID:15344554 + PMID:19578400 + PMID:2332510 + + + + + + + + + The amount of N-acetyltyrosine in the urine, normalized for urine concentration, is above the upper limit of normal. + + + Elevated urine N-acetyltyrosine level + + + + + The amount of N-acetyltyrosine in the urine, normalized for urine concentration, is above the upper limit of normal. + PMID:20301688 + + + + + + + + + The amount of manganese in the urine, normalized for urine concentration, is above the upper limit of normal. + + + Manganese is a trace mineral required for metabolism, growth and tissue formation, and reproduction. It is mainly obtained through food and water, as well as through occupational exposure. + Elevated urine manganese level + + + + + The amount of manganese in the urine, normalized for urine concentration, is above the upper limit of normal. + PMID:1577529 + + + + + + + + + The amount of manganese in the urine, normalized for urine concentration, is below the lower limit of normal. + + + Manganese is a trace mineral required for metabolism, growth and tissue formation, and reproduction. It is mainly obtained through food and water, as well as through occupational exposure. + Reduced urinary manganese level + + + + + The amount of manganese in the urine, normalized for urine concentration, is below the lower limit of normal. + PMID:1577529 + + + + + + + + + Concentration of a catecholamine in the blood circulation below the lower limit of normal. + + + The group of the catecholamines includes epinephrine (adrenaline), norepinephrine (noradrenaline), and dopamine. + Decreased circulating catecholamine concentration + + + + + + + + + Empty sella or arachnoidocele has been defined as the herniation of the subarachnoid space within the sella turcica, associated with elongated pituitary stalk and flattening of the pituitary gland. + + + Arachnoidocele + Empty sella turcica + + + + + Empty sella or arachnoidocele has been defined as the herniation of the subarachnoid space within the sella turcica, associated with elongated pituitary stalk and flattening of the pituitary gland. + PMID:22875743 + + + + + + + + + An increase in the level of guanidinoacetate in the brain identified by magnetic resonance spectroscopy (MRS). + + + Elevated brain guanidinoacetate level by MRS + + + + + An increase in the level of guanidinoacetate in the brain identified by magnetic resonance spectroscopy (MRS). + PMID:9386672 + + + + + + + + + The concentration of beta chorionic gonadotropin in the blood circulation is above the upper limit of normal. + + + Elevated circulating beta chorionic gonadotropin concentration + + + + + The concentration of beta chorionic gonadotropin in the blood circulation is above the upper limit of normal. + PMID:11919246 + + + + + + + + + The concentration of C-X-C motif chemokine 10 (CXCL10) in the blood circulation is above the upper limit of normal. + + + Elevated circulating CXCL10 concentration + + + + + The concentration of C-X-C motif chemokine 10 (CXCL10) in the blood circulation is above the upper limit of normal. + PMID:22038159 + + + + + + + + + The concentration of interleukin 12 (IL-12) in the blood circulation is below the lower limit of normal. + + + Reduced circulating interleukin 12 concentration + + + + + + + + + The concentration of fibroblast growth factor 23 in the blood circulation is below the lower limit of normal. + + + Fibroblast growth factor 23 hormone low in blood + Reduced circulating fibroblast growth factor 23 concentration + + + + + + + + + The concentration of fibroblast growth factor 23 in the blood circulation is outside of the limits of normal. + + + Abnormal circulating fibroblast growth factor 23 concentration + + + + + + + + + Difficulty or reduced ability to walk on heels. Heel-walking can be tested as a part of the neurological examination. Foot dorsal extention weakness leads to difficulties in walking on heels. + + + Impaired heel-walking ability + + + + + Difficulty or reduced ability to walk on heels. Heel-walking can be tested as a part of the neurological examination. Foot dorsal extention weakness leads to difficulties in walking on heels. + PMID:29291292 + + + + + + + + + The presence of autoantibodies (immunoglobulins) in the serum that react against prothrombin. + + + Anti-FII antibody positivity + Anti-prothrombin antibody positivity + + + + + The presence of autoantibodies (immunoglobulins) in the serum that react against prothrombin. + PMID:3116540 + + + + + + + + + The presence of autoantibodies (immunoglobulins) in the blood circulation that react against factor V. + + + Anti-FV antibody positivity + Anti-factor V antibody positivity + + + + + The presence of autoantibodies (immunoglobulins) in the blood circulation that react against factor V. + PMID:33505468 + + + + + + + + + The presence of autoantibodies (immunoglobulins) in the serum that react against factor VII. + + + Anti-FVII antibody positivity + Anti-factor VII antibody positivity + + + + + The presence of autoantibodies (immunoglobulins) in the serum that react against factor VII. + PMID:26962982 + + + + + + + + + The presence of autoantibodies (immunoglobulins) in the serum that react against factor VIII. + + + Anti-FVIII antibody positivity + Anti-factor VIII antibody positivity + + + + + The presence of autoantibodies (immunoglobulins) in the serum that react against factor VIII. + PMID:3116540 + + + + + + + + + The presence of autoantibodies (immunoglobulins) in the serum that react against factor IX. + + + Anti-FIX antibody positivity + Anti-factor IX antibody positivity + + + + + The presence of autoantibodies (immunoglobulins) in the serum that react against factor IX. + PMID:27501440 + PMID:28594432 + + + + + + + + + The presence of an antibody in the blood circulation that is directed against factor X. + + + Anti-FX antibody positivity + Anti-factor X antibody positivity + + + + + The presence of an antibody in the blood circulation that is directed against factor X. + PMID:24074948 + + + + + + + + + The presence of an antibody in the blood circulation that is directed against factor XI. + + + Anti-FXI antibody positivity + Anti-factor XI antibody positivity + + + + + The presence of an antibody in the blood circulation that is directed against factor XI. + PMID:18519152 + + + + + + + + + The presence of an antibody in the blood circulation that is directed against factor XIII. + + + Anti-FXIII antibody positivity + Anti-factor XIII antibody positivity + + + + + The presence of an antibody in the blood circulation that is directed against factor XIII. + PMID:29460500 + PMID:32759568 + + + + + + + + + The presence of an antibody in the blood circulation that is directed against factor H. + + + Anti-FH antibody positivity + Anti-factor H antibody positivity + + + + + The presence of an antibody in the blood circulation that is directed against factor H. + PMID:21051740 + PMID:30989342 + + + + + + + + + Cool or cold arms or legs related to peripheral vasoconstriction, the narrowing of blood vessels resulting from the contraction of muscular walls in large arteries and the small arterioles of skin and most internal organs. Following exposure to low ambient temperatures, vasoconstriction decreases heat dissipation from skin surfaces, thus preventing life-threatening hypothermia. + + + Peripheral vasoconstriction + Extremities cold to touch + + + + + Cool or cold arms or legs related to peripheral vasoconstriction, the narrowing of blood vessels resulting from the contraction of muscular walls in large arteries and the small arterioles of skin and most internal organs. Following exposure to low ambient temperatures, vasoconstriction decreases heat dissipation from skin surfaces, thus preventing life-threatening hypothermia. + PMID:34645109 + + + + + + + + + An irregular wavy appearance of sperm acrosomes. + + + The human acrosome and the acrosome reaction are important for human fertilization. Acrosome-intact sperm bind to the surface of the zona pellucida, where the physiological acrosome reaction is thought to be induced by zona pellucida glycoproteins. The proportion of sperm that react with acrosomes on the surface of the zona pellucida (the zona pellucida-induced acrosome reaction) is strongly correlated with the proportion of oocytes penetrated by sperm during in vitro fertilization. + Ruffled acrosome + + + + + An irregular wavy appearance of sperm acrosomes. + PMID:12095502 + + + + + + + + + The concentration of calprotectin in the blood circulation is above the upper limit of normal. + + + Calprotectinis an acute-phase protein produced by monocytes and neutrophils in the circulation and inflamed tissues. + Elevated circulating calprotectin concentration + + + + + The concentration of calprotectin in the blood circulation is above the upper limit of normal. + PMID:27895095 + + + + + + + + + + A soft tissue continuity in the anteroposterior axis between the toes 4 and 5. + + + 4-5 toe cutaneous syndactyly + + + + + A soft tissue continuity in the anteroposterior axis between the toes 4 and 5. + PMID:37352860 + + + + + + + + + A typical physical examination in patients with muscular dystrophies and selective weakness and atrophy of the trapezius muscle and proximal deltoid muscle. The contour of the back shows unique hills and drops. + + + Poly-hill sign + + + + + A typical physical examination in patients with muscular dystrophies and selective weakness and atrophy of the trapezius muscle and proximal deltoid muscle. The contour of the back shows unique hills and drops. + PMID:11994973 + + + + + + + + + + A soft tissue continuity in the anteroposterior axis between the third to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints. + + + Soft tissue syndactyly of fingers 3-5, + Webbed 3th, 4th, and 5th finger + Webbed third, fourth, and fifth finger + 3-5 finger cutaneous syndactyly + + + + + A soft tissue continuity in the anteroposterior axis between the third to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints. + PMID:37352860 + + + + + + + + + Partial dislocation of the radioulnar joint. + + + Radioulnar subluxation + + + + + Partial dislocation of the radioulnar joint. + PMID:7747190 + + + + + + + + + Non-pitting edema occurs when excess fluid builds up in the body causing swelling that does not indent when pressure is applied. It usually occurs in the limbs, and often results from underlying medical conditions affecting lymphatic system function. + + + Non-pitting edema + + + + + Non-pitting edema occurs when excess fluid builds up in the body causing swelling that does not indent when pressure is applied. It usually occurs in the limbs, and often results from underlying medical conditions affecting lymphatic system function. + PMID:32119339 + + + + + + + + + The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the human ferritin peptide. + + + It has also been shown that antibodies against the human ferritin peptide are present in more than 90% of patients with active giant cell arteritis, making it a potentially useful diagnostic marker. + Anti-human ferritin peptide antibody positivity + + + + + The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the human ferritin peptide. + PMID:22228484 + PMID:36344353 + + + + + + + + + The concentration of L-2-hydroxyglutaric acid in the cerebrospinal fluid (CSF) is above the upper limit of normal. + + + Elevated CSF L-2-hydroxyglutaric acid concentration + + + + + + + + + Concentration of inosine triphosphate in red blood cells is above the upper limit of normal. + + + Inosine triphosphate pyrophosphohydrolase (ITPase) deficiency is a common inherited condition characterized by the abnormal accumulation of inosine triphosphate (ITP) in erythrocytes. + Elevated erythrocyte inosine triphosphate concentration + + + + + Concentration of inosine triphosphate in red blood cells is above the upper limit of normal. + PMID:12384777 + + + + + + + + + Activity or concentration of inosine triphosphate pyrophosphohydrolase (EC 3.6.1.19) in red blood cells below the lower limit of normal. + + + Reduced erythrocyte inosine triphosphatase activity + + + + + + + + + Concentration or activity of alpha-1,3-fucosyltransferase is below the lower limit of normal in the blood circulation. + + + The alpha 3 fucosyltransferases are a family of glycosyltransferases involved in the addition of fucose onto glycoproteins and glycolipids. One of the best defined roles for the alpha 3 fucosyltransferases is in the biosynthesis of the carbohydrate antigen sialyl Lewis X, the minimal ligand for the selectin family of adhesion molecules. + Reduced circulating alpha-1,3-fucosyltransferase activity + + + + + Concentration or activity of alpha-1,3-fucosyltransferase is below the lower limit of normal in the blood circulation. + PMID:9448836 + + + + + + + + + Activity of the enzyme myeloperoxidase (EC 1.11.1.7) in neutrophils below the lower limit of normal. This feature can be measured by peroxidase cytochemistry or biochemical assays. Myeloperoxidase is a lysosomal hemoprotein located in the azurophilic granules of polymorphonuclear leukocytes and monocytes. + + + Diminished neutrophil myeloperoxidase activity + + + + + Activity of the enzyme myeloperoxidase (EC 1.11.1.7) in neutrophils below the lower limit of normal. This feature can be measured by peroxidase cytochemistry or biochemical assays. Myeloperoxidase is a lysosomal hemoprotein located in the azurophilic granules of polymorphonuclear leukocytes and monocytes. + PMID:9354683 + + + + + + + + + Activity or concentration of in the level of uroporphyrinogen III (EC 4.2.1.75) in erythrocytes below the lower limit of normal. + + + Reduced erythrocyte uroporphyrinogen III cosynthase activity + + + + + Activity or concentration of in the level of uroporphyrinogen III (EC 4.2.1.75) in erythrocytes below the lower limit of normal. + PMID:3674403 + + + + + + + + + The relative concentration in the blood circulation of 18-hydroxycorticosterone compared to that of aldosterone is above the upper limit of normal. + + + Elevated 18-hydroxycorticosterone to aldosterone ratio + + + + + The relative concentration in the blood circulation of 18-hydroxycorticosterone compared to that of aldosterone is above the upper limit of normal. + PMID:2981240 + + + + + + + + + The concentration of 21-deoxycortisol in the blood circulation is above the upper limit of normal. + + + 21-Deoxycortisol is a marker for 21-hydroxylase deficiency. + Elevated circulating 21-deoxycortisol concentration + + + + + The concentration of 21-deoxycortisol in the blood circulation is above the upper limit of normal. + PMID:34780778 + + + + + + + + + The concentration of monolysocardiolipin related to that of cardiolipin is above the upper limit of normal. This is a functional assay that can be performed from a blood spot to diagnose Barth syndrome (OMIM:302060). + + + Elevated monolysocardiolipin/cardiolipin ratio + + + + + The concentration of monolysocardiolipin related to that of cardiolipin is above the upper limit of normal. This is a functional assay that can be performed from a blood spot to diagnose Barth syndrome (OMIM:302060). + PMID:34382226 + + + + + + + + + The concentration of vitamin B12 in the mother's blood during pregnancy is below the lower limit of normal. + + + Low maternal vitamin B12 concentration + + + + + + + + + The concentration of inibin A in the blood circulation is above the upper limit of normal. + + + Inhibin A and inhibin B are related dimeric protein hormones and endocrine regulators of the reproductive axis. Specifically, inhibin inhibits FSH secretion from the anterior pituitary. The inhibins are synthesized by the gonads and are themselves modulated by FSH. + Elevated circulating inhibin A concentration + + + + + The concentration of inibin A in the blood circulation is above the upper limit of normal. + PMID:8940372 + + + + + + + + + The concentration of inhibin B in the blood circulation is above the upper limit of normal. + + + Inhibin B high in blood + Inhibin A and inhibin B are related dimeric protein hormones and endocrine regulators of the reproductive axis. Specifically, inhibin inhibits FSH secretion from the anterior pituitary. The inhibins are synthesized by the gonads and are themselves modulated by FSH. + Increased circulating inhibin B concentration + + + + + The concentration of inhibin B in the blood circulation is above the upper limit of normal. + PMID:8940372 + + + + + + + + + The concentration of lipoprotein(a) in the blood circulation is above the upper limit of normal. Lipoprotein(a), also known as apolipoprotein(A), is encoded by LPA (HGNC:6667). + + + ipoprotein(a) [Lp(a)] is an atherogenic lipoprotein with a strong genetic regulation. Up to 90% of the concentrations are explained by a single gene, the LPA gene. The concentrations show a several-hundred-fold interindividual variability ranging from less than 0.1 mg/dL to more than 300 mg/dL. Lp(a) plasma concentrations above 30 mg/dL and even more above 50 mg/dL are associated with an increased risk for cardiovascular disease including myocardial infarction, stroke, aortic valve stenosis, heart failure, peripheral arterial disease, and all-cause mortality. + Elevated circulating lipoprotein(a) concentration + + + + + The concentration of lipoprotein(a) in the blood circulation is above the upper limit of normal. Lipoprotein(a), also known as apolipoprotein(A), is encoded by LPA (HGNC:6667). + PMID:34196811 + + + + + + + + + The concentration of lipoprotein(a) in the blood circulation is below the lower limit of normal. Lipoprotein(a), also known as apolipoprotein(A), is encoded by LPA (HGNC:6667). + + + Reduced circulating lipoprotein(a) concentration + + + + + + + + + The amount of bile acids in the urine, normalized for urine concentration, is above the upper limit of normal. + + + Increased urinary bile acid level + + + + + + + + + The amount of bile acids in the urine, normalized for urine concentration, is outside the limits of normal. + + + Abnormal urinary bile acid level + + + + + + + + + Activity of glutathione reductase (EC 1.6.4.2) in erythrocytes below the lower limit of normal. + + + Reduced erythrocyte glutathione reductase activity + + + + + Activity of glutathione reductase (EC 1.6.4.2) in erythrocytes below the lower limit of normal. + PMID:17185460 + + + + + + + + + Failure to elevate lactate in blood washed out from ischemically exercised muscles as assayed by the forearm ischemic exercise test. + + + The forearm ischemic exercise test (FIET) has been accepted as an essential clinical laboratory test in the evaluation of patients suspected to have McArdle's disease and other disorders of muscle metabolism. Painful contracture during ischemic exercise and failure to elevate blood lactate duringthe FIET are regarded as the basic screening tests for disorders of anaerobic metabolism in muscle. + Failure to elevate lactate upon ischemic exercise test + + + + + Failure to elevate lactate in blood washed out from ischemically exercised muscles as assayed by the forearm ischemic exercise test. + PMID:3476851 + + + + + + + + + The concentration of cholestanol in the blood circulation is above the upper limit of normal. Cholestanol is the 5-alpha-dihydro derivative of cholesterol. + + + Elevated circulating cholestanol concentration + + + + + + + + + A medical history of having been exposed to livestock (animals such as cattle and sheep which are kept on a farm ). + + + Livestock exposure + + + + + + + + + Applies to an abnormality of the skin in which multiple lesions occur at the same time. + + + Synchronous skin lesions + + + + + + + + + Refers to a skin lseion that has a snake-like (serpentine) shape. + + + Lesions of granuloma inguinale are said to have a serpentine appearance. + Serpentine skin location + + + + + Refers to a skin lseion that has a snake-like (serpentine) shape. + PMID:30020678 + + + + + + + + + The amount of an organic compound in the urine, normalized for urine concentration, is outside the limits of normal. An organic compound is defined here as a chemical compound that contains a carbon-hydrogen or carbon-carbon bond, although some other definitions exist. Examples of organic compounds includea alkanes, alkenes, alkynes, aromatic compounds, alcohols, ketones, aldehydes, carboxylic acids, and esters. + + + Abnormal urinary organic compound level + + + + + + + + + The amount of histamine in the urine, normalized for urine concentration, is above the upper limit of normal. + + + Urinary histamine excretion may be abnormally high in a variety of clinical settings including systemic mastocytosis. + Elevated urinary histamine level + + + + + The amount of histamine in the urine, normalized for urine concentration, is above the upper limit of normal. + PMID:890980 + + + + + + + + + The amount of N-methylhistamine in the urine, normalized for urine concentration, is above the upper limit of normal. + + + Elevated urinary N-methylhistamine level + + + + + The amount of N-methylhistamine in the urine, normalized for urine concentration, is above the upper limit of normal. + PMID:12372095 + + + + + + + + + The amount of ureidopropionic acid in the urine, normalized for urine concentration, is above the upper limit of normal. + + + Ureidopropionic acid high in urine + Elevated urinary ureidopropionic acid level + + + + + The amount of ureidopropionic acid in the urine, normalized for urine concentration, is above the upper limit of normal. + PMID:11675655 + + + + + + + + + The amount of a porphyrin compound in the urine, normalized for urine concentration, is above the upper limit of normal. Porphrins are natural pigments containing a fundamental skeleton of four pyrrole nuclei united through the alpha-positions by four methine groups to form a macrocyclic structure. Porpyrins giove rise to heme and combalamine. + + + Porphyrias are a group of diseases that are clinically and genetically heterogeneous and originate mostly from inherited dysfunctions of specific enzymes involved in heme biosynthesis. Such dysfunctions result in the excessive production and excretion of the intermediates of the heme biosynthesis pathway in the blood, urine, or feces, and these intermediates are responsible for specific clinical presentations. An accumulation of the following two different kinds of metabolites may occur: one is the porphyrin precursors, such as 5-aminolevulinic acid (ALA) and porphobilinogen (PBG), which are linear non-fluorescent molecules, and the other kind is the porphyrins, such as uroporphyrins (URO), coproporphyrins (COPRO), and protoporphyrins (PROTO), which are circular molecules that emit fluorescence signals when excited. Porphyrins are the oxidized products of porphyrinogens, which are the actual substrates of the enzymes involved in heme biosynthesis. Porphyrins exist in different isomers depending on the arrangement of the substituents acetate (A), propionate (P), methyl (M), and vinyl (V) of the four pyrroles of the porphyrin ring. + Elevated urinary porphyrin level + + + + + + + + + The amount of a coproporphyrin in the urine, normalized for urine concentration, is above the upper limit of normal. + + + Elevated urinary coproporphyrin level + + + + + + + + + Applies to an abnormality of the skin that is located in or surrounding eccrine sweat glands. + + + Eccrine sweat glands are simple, coiled, tubular glands present throughout the body, most numerously on the soles of the feet. Eccrine sweat glands serve a thermoregulatory function via evaporative heat loss. When the internal temperature of the body rises, sweat glands release water to the skin surface. There, it quickly evaporates, subsequently cooling the skin and blood beneath.; this is the most effective means of thermoregulation in humans. Eccrine sweat glands also participate in ion and nitrogenous waste excretion. + Ecrrine sweat gland predominance + + + + + Applies to an abnormality of the skin that is located in or surrounding eccrine sweat glands. + PMID:29489179 + + + + + + + + + Applies to an abnormality of the skin whose boundry to the surrounding normal skin is not clearly defined. + + + Poorly demarcated skin lesion + + + + + + + + + Medical history of a recent bite or scratch injury due to a cat. + + + History of recent cat scratch + History of recent cat bite + + + + + + + + + A history of having been in an area with inadequate sewage sanitation in the recent past. + + + History of recent stay in area with inadequate sewage sanitation + + + + + + + + + Detection of cutaneous herpes simplex virus nucleic acid in the skin by a method such as polymerase chain reaction. The sample is usually obtained by cutaneous swabs from skin lesions. + + + Positive cutaneous herpes simplex virus nucleic acid test + + + + + Detection of cutaneous herpes simplex virus nucleic acid in the skin by a method such as polymerase chain reaction. The sample is usually obtained by cutaneous swabs from skin lesions. + PMID:12834453 + + + + + + + + + Detection of Mycobacterium tuberculosis nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction. + + + Positive CSF mycobacterium tuberculosis nucleic acid test + + + + + + + + + Growth of mycobacterium in a culture derived from cerebrospinal fluid (CSF). + + + Posiitive mycobacterium CSF culture + + + + + + + + + The demonstration of mycobacterium by microscopy of the cerebrospinal fluid (CSF). + + + Ziehl-Neelsen (Z-N) staining of cerebrospinal fluid (CSF) for acid-fast bacilli (AFB) is the cornerstone of the laboratory diagnosis of tuberculous meningitis (TBM). However, the sensitivity of conventional Z-N staining for the detection of AFB in CSF specimens is suboptimal. + Positive mycobacterium CSF microscopy + + + + + The demonstration of mycobacterium by microscopy of the cerebrospinal fluid (CSF). + PMID:28105125 + + + + + + + + + Detection of nucleic acid of treponema pallidum in the blood circulation by a method such a polymerase chain reaction. + + + Treponema pallidum is the causative agent of syphilis. + Positive treponema pallidum PCR test in the blood circulation + + + + + Detection of nucleic acid of treponema pallidum in the blood circulation by a method such a polymerase chain reaction. + PMID:35315702 + + + + + + + + + Detection of nucleic acid of human immunodeficiency vrus (HIV) in the blood circulation by a methiod such as polymerase chain reaction (PCR). + + + Positive human Immunodeficiency virus nucleic acid test in the blood circulation + + + + + + + + + Detection of enteroviral nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR. + + + Positive CSF enterovirus nucleic acid test + + + + + Detection of enteroviral nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR. + PMID:9705364 + + + + + + + + + Detection of Borrelia burgdorferi nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction. + + + Positive CSF Borrelia burgdorferi nucleic acid test + + + + + + + + + Detection of arbovus nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR.. + + + Positive CSF arbovirus nucleic acid test + + + + + + + + + Detection of nucleic acid of Bartonella henselae in the blood circulation by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR. + + + Positive Bartonella henselae nucleic acid test in the blood circulation + + + + + + + + + Detection of nucleic acid of the Dengue virus in the blood circulation by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR. + + + Dengue viruses (family Flaviviridae, genus Flavivirus) occur as four antigenically distinct serotypes. Infection with any of them generally leads to a mild, self-limiting febrile illness (dengue fever). However, a more severe form of the disease, involving vascular and hemostatic abnormalities (dengue hemorrhagic fever-dengue shock syndrome), is responsible for a high mortality rate, primarily among children. + Positive Dengue virus PCR test in the blood circulation + + + + + Detection of nucleic acid of the Dengue virus in the blood circulation by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR. + PMID:1372617 + + + + + + + + + Detection of JC-virus nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction. + + + JC-virus is also known as JC-Polyomavirus and John Cunningham virus. + Positive CSF JC-virus nucleic acid test + + + + + + + + + Presence of malaria parasites in the peripheral blood. + + + The analysis of thick blood smears (TBS) is the reference method chosen as a first option for the malaria diagnosis worldwide. In this method, after a blood sample is taken and dried, the TBS is stained. After the staining process, the smear is visually analysed by microscopy, where parasites and leukocytes are identified and counted. + Bloodstream Malaria parasite + + + + + Presence of malaria parasites in the peripheral blood. + PMID:35255896 + + + + + + + + + Detection of nucleic acid of Plasmodium falciparum (a type of Malaria parasite) in the blood circulation by a method such as polymerase chain reaction (PCR). + + + Positive bloodstream plasmodium falciparum nucleic acid pathogen test + + + + + + + + + Activity or concentration of fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) in red blood cells below the lower limit of normal. + + + Fructose-1,6-bisphosphate aldolase A (fructose-bisphosphate aldolase; EC 4.1.2.13) deficiency is an autosomal recessive disorder associated with hereditary hemolytic anemia. + Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity + + + + + Activity or concentration of fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) in red blood cells below the lower limit of normal. + PMID:2825199 + + + + + + + + + Concentration of Dopamine beta-hydroxylase (DBH; EC 1.14.17.1) in the blood circulation below the lower limit of normal. DBH catalyzes the oxidative hydroxylation of dopamine to norepinephrine. + + + Reduced circulating dopamine beta-hydroxylase activity + + + + + Concentration of Dopamine beta-hydroxylase (DBH; EC 1.14.17.1) in the blood circulation below the lower limit of normal. DBH catalyzes the oxidative hydroxylation of dopamine to norepinephrine. + PMID:11857564 + + + + + + + + + Activity or concentration of bisphosphoglycerate mutase (BPGM; EC 5.4.2.4;) in red blood cells below the lower limit of normal. BPGM is a multifunctional enzyme specifically found in red blood cells that synthesizes 2,3-diphosphoglycerate through its synthase activity and degrades it through its phosphatase activity. + + + Reduced erythrocyte bisphosphoglycerate mutase activity + + + + + Activity or concentration of bisphosphoglycerate mutase (BPGM; EC 5.4.2.4;) in red blood cells below the lower limit of normal. BPGM is a multifunctional enzyme specifically found in red blood cells that synthesizes 2,3-diphosphoglycerate through its synthase activity and degrades it through its phosphatase activity. + PMID:25015942 + + + + + + + + + Activity or concentration of in the level of adenylate kinase (EC 2.7.4.3) in erythrocytes below the lower limit of normal. Adenylate kinase is a ubiquitous monomeric enzyme that catalyzes the reversible conversion of MgATP plus AMP to MgADP plus ADP and contributes to homeostasis of the adenine nucleotide composition in the cell. + + + Reduced erythrocyte adenylate kinase activity + + + + + Activity or concentration of in the level of adenylate kinase (EC 2.7.4.3) in erythrocytes below the lower limit of normal. Adenylate kinase is a ubiquitous monomeric enzyme that catalyzes the reversible conversion of MgATP plus AMP to MgADP plus ADP and contributes to homeostasis of the adenine nucleotide composition in the cell. + PMID:7947281 + + + + + + + + + Activity or concentration of hexokinase (EC 2.7.1.1) in red blood cells below the lower limit of normal. Arginase catalyzes the last step of the urea cycle. + + + Hexokinase catalyzes the first step in glucose metabolism, using ATP for the phosphorylation of glucose to glucose-6-phosphate. Four different forms of hexokinase, designated type HK1, HK2, HK3, and HK4, are present in mammalian tissues. + Reduced erythrocyte hexokinase activity + + + + + Activity or concentration of hexokinase (EC 2.7.1.1) in red blood cells below the lower limit of normal. Arginase catalyzes the last step of the urea cycle. + PMID:7234862 + + + + + + + + + Activity of the enzyme Carboxypeptidase N (arginine carboxypeptidase, EC 3.4.17.3) in the blood circulation below the lower limit of normal. + + + Carboxypeptidase N cleaves basic amino acid residues from the C terminal of peptides and proteins. + Decreased circulating carboxypeptidase N activity + + + + + Activity of the enzyme Carboxypeptidase N (arginine carboxypeptidase, EC 3.4.17.3) in the blood circulation below the lower limit of normal. + PMID:12560874 + + + + + + + + + Activity or concentration of pyruvate kinase (EC 2.7.1.40) in erythrocytes above the upper limit of normal. Pyruvate kinase (EC 2.7.1.40) is a glycolytic enzyme that catalyzes the transphosphorylation from phosphoenolpyruvate (PEP) to ADP, yielding pyruvate and ATP. + + + Elevated red cell pyruvate kinase activity + + + + + + + + + Concentration of adenosine deaminase 2 in the blood circulation below the lower limit of normal. + + + Reduced circulating ADA2 activity + Reduced circulating adenosine deaminase-2 activity + + + + + Concentration of adenosine deaminase 2 in the blood circulation below the lower limit of normal. + PMID:24552285 + + + + + + + + + Acitivity of sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase; EC 1.1.1.153) below the lower limit of normal in cultured fibroblasts. + + + Reduced sepiapterin reductase activity in cultured fibroblasts + + + + + Acitivity of sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase; EC 1.1.1.153) below the lower limit of normal in cultured fibroblasts. + PMID:22522443 + + + + + + + + + The concentration of vasoactive intestinal peptide (VIP) in the blood circulation is above the upper limit of normal. + + + VIP is a gut peptide hormone originally reported as a vasodilator in 1970, has multiple physiological and pathological effects on development, growth, and the control of neuronal, epithelial, and endocrine cell functions that in turn regulate ion secretion, nutrient absorption, gut motility, glycemic control, carcinogenesis, immune responses, and circadian rhythms. + Elevated circulating vasoactive intestinal peptide concentration + + + + + The concentration of vasoactive intestinal peptide (VIP) in the blood circulation is above the upper limit of normal. + PMID:31559013 + + + + + + + + + The concentration of cholesterol sulfate in the blood circulation is above the upper limit of normal. + + + holesterol sulfate is quantitatively the most important known sterol sulfate in human plasma. Cholesterol sulfate is a component of cell membranes where it has a stabilizing role, e.g., protecting erythrocytes from osmotic lysis and regulating sperm capacitation. It is present in platelet membranes where it supports platelet adhesion. Cholesterol sulfate can regulate the activity of serine proteases, e.g., those involved in blood clotting, fibrinolysis, and epidermal cell adhesion. As a result of its ability to regulate the activity of selective protein kinase C isoforms and modulate the specificity of phosphatidylinositol 3-kinase, cholesterol sulfate is involved in signal transduction. + Elevated circulating cholesterol sulfate concentration + + + + + The concentration of cholesterol sulfate in the blood circulation is above the upper limit of normal. + PMID:12730293 + + + + + + + + + The concentration of lipoprotein X in the blood circulation is above the upper limit of normal. + + + The hypercholesterolemia observed in cholestasis is due to the presence of an anomalous lipoprotein called lipoprotein-X (Lp-X). Lp-X is a lipoprotein rich in phospholipid and free cholesterol present in plasma of patients with cholestasis and, with some variations, in patients with lecithin-cholesterol-acyl-transferase deficiency (LCAT), and after lipid infusion. Lp-X is formed from a bile lipoprotein moving to the blood vessels where it incorporates small quantities of triglycerides, apo-C and esterified cholesterol and becomes a mature Lp-X. + Elevated circulating lipoprotein X concentration + + + + + The concentration of lipoprotein X in the blood circulation is above the upper limit of normal. + PMID:30503707 + + + + + + + + + The concentration of oxalate in the blood circulation is above the upper limit of normal. + + + Elevated circulating oxalate concentration + + + + + + + + + The concentration of ethylene glycol in the blood is above the upper limit of a guidance value for total concentrations that implies possible injurious effects. + + + Ethylene glycol (C2H6O2) is a toxic alcohol that is found in various household and industrial agents including antifreeze. Exposures are generally observed due to accidental or intentional ingestions, with its sweet taste lending to accidental toxic exposures, whereas intentional exposures may be motivated by a suicide attempt or desire for inebriation in the absence of ethanol. + Elevated blood ethylene glycol concentration + + + + + The concentration of ethylene glycol in the blood is above the upper limit of a guidance value for total concentrations that implies possible injurious effects. + PMID:30725694 + + + + + + + + + Exaggerated indentation at the very middle (midline) of the lower lip. + + + This feature has been observed in Orofaciodigital syndrome XIX (OMIM:620107). See Figure 1a of PMID:36084634. + Midline notching of lower lip + + + + + Exaggerated indentation at the very middle (midline) of the lower lip. + PMID:36084634 + + + + + + + + + Activity of thymidine phosphorylase (EC 2.4.2.4) in the tissues below the lower limit of normal. The activity can be measured in multiple tissues including leukocytes. + + + Reduced leukocyte thymidine phosphorylase activity + Reduced tissue thymidine phosphorylase activity + + + + + Activity of thymidine phosphorylase (EC 2.4.2.4) in the tissues below the lower limit of normal. The activity can be measured in multiple tissues including leukocytes. + PMID:10852545 + + + + + + + + + Activity of tripeptidyl peptidase 1 (TPP1;EC 3.4.14.9) in the tissues below the lower limit of normal. TTP1 activity can be measured in tissues including fibroblasts and leukocytes muscle. + + + Reduced leukocyte tripeptidyl peptidase 1 activity + Reduced tripeptidyl peptidase 1 activity in cultured fibroblasts + Reduced tissue tripeptidyl peptidase 1 activity + + + + + Activity of tripeptidyl peptidase 1 (TPP1;EC 3.4.14.9) in the tissues below the lower limit of normal. TTP1 activity can be measured in tissues including fibroblasts and leukocytes muscle. + PMID:37922835 + + + + + + + + + Activity of L-arginine:glycine amidinotransferase (GATM; EC 2.1.4.1) in the tissues below the lower limit of normal. GATM activity can be measured in multiple tissues including leukocytes and cultured fibroblasts. + + + Reduced tissue arginine:glycine amidinotransferase activity + + + + + Activity of L-arginine:glycine amidinotransferase (GATM; EC 2.1.4.1) in the tissues below the lower limit of normal. GATM activity can be measured in multiple tissues including leukocytes and cultured fibroblasts. + PMID:22386973 + + + + + + + + + Activity of aspartylglucosaminidase (AGA; EC 3.5.1.26) in the tissues below the lower limit of normal. AGA activity can be measured in multiple tissues including leukocytes and cultured fibroblasts. + + + Reduced tissue aspartylglucosaminidase activity + + + + + Activity of aspartylglucosaminidase (AGA; EC 3.5.1.26) in the tissues below the lower limit of normal. AGA activity can be measured in multiple tissues including leukocytes and cultured fibroblasts. + PMID:1904874 + + + + + + + + + Activity of carnitine-acylcarnitine translocase (CACT) in tissues below the lower limit of normal. CACT activity can be measured in multiple tissues. + + + Reduced tissue carnitine-acylcarnitine translocase activity + + + + + Activity of carnitine-acylcarnitine translocase (CACT) in tissues below the lower limit of normal. CACT activity can be measured in multiple tissues. + PMID:9323572 + + + + + + + + + The activity of 6-pyruvoyltetrahydropterin synthase in the blood circulation is below the lower limit of normal. + + + Reduced circulating 6-pyruvoyltetrahydropterin synthase activity + + + + + The activity of 6-pyruvoyltetrahydropterin synthase in the blood circulation is below the lower limit of normal. + PMID:3297709 + + + + + + + + + Activity of mannosyl-oligosaccharide glucosidase (MOGS) in tissues below the lower limit of normal. MOGS activity can be measured in multiple tissues including liver and cultured fibroblasts. + + + Reduced tissue mannosyl-oligosaccharide glucosidase activity + + + + + Activity of mannosyl-oligosaccharide glucosidase (MOGS) in tissues below the lower limit of normal. MOGS activity can be measured in multiple tissues including liver and cultured fibroblasts. + PMID:10788335 + + + + + + + + + Activity of the mitochondrial enzyme 3-methylglutaconyl-CoA hydratase (EC 4.2.1.18) in tissues below the lower limit of normal. The activity can be measured in multiple tissues including culutured fibroblasts. + + + Reduced tissue 3-methylglutaconyl-CoA hydratase activity + + + + + Activity of the mitochondrial enzyme 3-methylglutaconyl-CoA hydratase (EC 4.2.1.18) in tissues below the lower limit of normal. The activity can be measured in multiple tissues including culutured fibroblasts. + PMID:3082934 + + + + + + + + + Activity of gamma-glutamyltransferase in the tissues below the lower limit of normal. The activity can be measured in multiple tissues including leukocytes and cultured fibroblasts. + + + Reduced tissue gamma-glutamyltransferase activity + + + + + Activity of gamma-glutamyltransferase in the tissues below the lower limit of normal. The activity can be measured in multiple tissues including leukocytes and cultured fibroblasts. + PMID:29483667 + + + + + + + + + Any kind of test for an infectious agent in the oropharynx positive. The oropharynx is defined as the middle part of the throat and includes the soft palate, the side and back walls of the throat, the tonsils, and the posterior one-third of the tongue. + + + Positive oropharangeal infectious agent test + + + + + + + + + Detection of poliovirus nucleic acid in the oropharynx by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR. + + + Positive oropharynx poliovirus nucleic acid test + + + + + + + + + Any kind of test for an infectious agent in the synovial fluid (i.e., in a joint) positive. + + + Positive synonvial fluid infectious agent test + + + + + + + + + Growth of an infectious agent in a culture derived from synovial fluid. + + + Positive synonvial fluid culture + + + + + + + + + Demonstration of the presence of bacteria by gram staining of joint (synovial) fluid. The sample is generally obtained by arthrocentesis. + + + Positive synovial fluid gram stain + + + + + Demonstration of the presence of bacteria by gram staining of joint (synovial) fluid. The sample is generally obtained by arthrocentesis. + PMID:21250117 + + + + + + + + + The presence of antibodies in the blood circulation that react against a component of parvovirus. + + + Anti Parvovirus antibody positivity + + + + + + + + + Tuberculoma results from hematogenous spread of Mycobacterium tuberculosis (M. tb) from an extracranial source. Diagnosis is based on computed tomography (CT) scan and magnetic resonance imaging (MRI) studies with a similar ring-enhancing lesion. + + + It is estimated that TB in the brain parenchyma develops in nearly one of 300 non-treated cases of pulmonary TB cases, and in half of the patients with disseminated TB. Imaging studies, such as CT and MRI with contrast enhancement, are the basis for diagnosis of tuberculoma. The most common image of tuberculoma is a ring-enhancing lesion due to the absence of blood supply in the caseous necrosis center within the tuberculoma. MRI is slightly superior for showing the size of brain lesions and helps to identify the solid caseous necrosis. Images of caseating tuberculoma are generally composed of three zones, an inner iso-intense and hypo-intense layer image due to caseous necrosis (signals in T1WI and T2WI, respectively). In this zone, fluid-attenuated inversion recovery (FLAIR) images reflect extensive necrosis and hypercellularity. A middle layer with hypo-intense and hyperintense signals due to the presence of Langhans giant cells, epithelioid cells, and edema (in T1WI and T2WI, respectively) is enhanced with gadolinium in contrast images, whereas the external layer shows iso-intense and hypo-intense component (signals in T1WI and T2WI) due to the collagenous capsule. + Brain parenchymal tuberculoma + + + + + Tuberculoma results from hematogenous spread of Mycobacterium tuberculosis (M. tb) from an extracranial source. Diagnosis is based on computed tomography (CT) scan and magnetic resonance imaging (MRI) studies with a similar ring-enhancing lesion. + PMID:34900500 + + + + + + + + + An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in muscle tissue. + + + Arteriovenous malformation in muscle + Muscle AVM + Muscle arteriovenous malformation + + + + + + + + + An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in a bone. + + + Bone vascular malformation + Bone arteriovenous malformation + + + + + + + + + Lifting or separation of the periosteum from the outer surface of a bone. Periosteal elevation is usually seen in benign process, frequently in cranioencephalic traumas. There is an elevation of the periosteum after blood, like in cephalohematomas. + + + Periosteal elevation + + + + + Lifting or separation of the periosteum from the outer surface of a bone. Periosteal elevation is usually seen in benign process, frequently in cranioencephalic traumas. There is an elevation of the periosteum after blood, like in cephalohematomas. + PMID:32923528 + + + + + + + + + Widening (relatively uniform increase in diameter) of a segment of the esophagus. + + + This feature can be ascertained by chest computed tomography. + Esophageal dilation + + + + + Widening (relatively uniform increase in diameter) of a segment of the esophagus. + PMID:26639310 + + + + + + + + + A lipoma that is localized to the spine. + + + Spinal lipoma + + + + + + + + + Small fragments of articular cartilage that break off in a joint as a result of a injury, degeneration, or other processes. + + + This abnormality may be observed upon joint imaging in individuals with diseases such as foreign body arthritis, pigmented villonodular synovitis, synovial chondromatosis, and osteochondritis dissecans. + Loose body in joint + + + + + Small fragments of articular cartilage that break off in a joint as a result of a injury, degeneration, or other processes. + PMID:30451404 + + + + + + + + + An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in adjacent to the spine, i.e., in a location that is normally occupied by muscles, ligaments, nerves, and other tissues that run alongside the spinal column. + + + Paraspinal arteriovenous malformation + + + + + + + + + The presence of an additional tarsal bone that is not one of the canonical tarsal bones (cuboid, medial, intermediate, and lateral cuneiform, navicular, talus, calcaneus). + + + Accessory tarsal bone + Supernumerary tarsal bone + + + + + The presence of an additional tarsal bone that is not one of the canonical tarsal bones (cuboid, medial, intermediate, and lateral cuneiform, navicular, talus, calcaneus). + PMID:9272214 + + + + + + + + + A closed sac that has developed in the upper jaw bone (maxilla) and contains fluid or semi-solid material. Cystic lesions of the maxilla are benign entities with both odontogenic and non-odontogenic origins. + + + Maxillary cyst + + + + + + + + + A closed sac that has developed in the lower jaw bone (mandibula) and contains fluid or semi-solid material. + + + Mandibular cyst + + + + + + + + + Underdevelopment of the six cranial nerve (abducens nerve). + + + Cranial nerve six (CN VI) is one of the nerves responsible for the extraocular motor functions of the eye, along with the oculomotor nerve (CN III) and the trochlear nerve (CN IV). + Sixth cranial nerve hypoplasia + + + + + Underdevelopment of the six cranial nerve (abducens nerve). + PMID:28613463 + + + + + + + + + Underdevelopment of the third cranial nerve (oculomotor nerve). + + + Third cranial nerve hypoplasia + + + + + + + + + Presence in the urine of succinylacetone, which is one of the toic block metabolites formed in tyrosinaemia type 1 because of a defect in the final enzyme of the pathway of the degradation of tyrosine, namely fumarylacetoacetase (FAH, EC 3.7.1.2). + + + As a result of the metabolic block in tyrosinaemia type 1, toxic metabolites are formed including succinylacetone, maleylacetoacetate and fumarylacetoacetate. These are responsible for severe disruption of intracellular metabolism of the liver and kidney. + Elevated urinary succinylacetone level + + + + + Presence in the urine of succinylacetone, which is one of the toic block metabolites formed in tyrosinaemia type 1 because of a defect in the final enzyme of the pathway of the degradation of tyrosine, namely fumarylacetoacetase (FAH, EC 3.7.1.2). + PMID:23311542 + + + + + + + + + The amount of 2-oxoisocaproic in the urine, normalized for urine concentration, is above the upper limit of normal. + + + Elevated levels of 2-oxoisocaproic acid can be found in individuals with Maple syrup urine disease. + Elevated urinary 2-oxoisocaproic level + + + + + + + + + The amount of 2-oxovaleric acid in the urine, normalized for urine concentration, is above the upper limit of normal. + + + Elevated urinary alpha-ketovalerate level + Elevated urinary 2-oxovaleric acid level + + + + + + + + + The amount of 2-hydroxyisocaproic acid in the urine, normalized for urine concentration, is above the upper limit of normal. + + + Elevated urinary 2-hydroxyisocaproic acid level + + + + + + + + + The amount of isovalerylglycine in the urine, normalized for urine concentration, is above the upper limit of normal. + + + Isovalerylglycine (IVG) is an acyl glycine. The excretion of certain IVG is increased in isovaleric acidemia. + Elevated urinary isovalerylglycine level + + + + + The amount of isovalerylglycine in the urine, normalized for urine concentration, is above the upper limit of normal. + PMID:17850781 + + + + + + + + + The amount of 2-methyl-3-hydroxybutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal. + + + 2-methyl-3-hydroxybutyric acid is a normal urinary metabolite involved in the isoleucine catabolism and is excreted in abnormally high amounts in alpha-methylacetoacetic aciduria. + Elevated urinary 2-methyl-3-hydroxybutyric acid level + + + + + The amount of 2-methyl-3-hydroxybutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal. + PMID:9700610 + + + + + + + + + The amount of 3-hydroxypentanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal. + + + Elevated urinary 3-hydroxypentanoic acid level + + + + + + + + + The amount of 7-hydroxyoctanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal. + + + Elevated urinary 7-hydroxyoctanoic acid level + + + + + + + + + The amount of D-glyceric acid in the urine, normalized for urine concentration, is above the upper limit of normal. + + + Elevated urinary D-glyceric acid level + + + + + The amount of D-glyceric acid in the urine, normalized for urine concentration, is above the upper limit of normal. + PMID:20949620 + + + + + + + + + The amount of 3-hydroxyisobutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal. + + + Elevated urinary 3-hydroxyisobutyric acid level + + + + + The amount of 3-hydroxyisobutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal. + PMID:23835272 + + + + + + + + + The amount of 3,4-Dihydroxybutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal. + + + Elevated urinary 3,4-Dihydroxybutyric acid level + + + + + The amount of 3,4-Dihydroxybutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal. + PMID:12127325 + + + + + + + + + The amount of 3-hydroxyadipic acid in the urine, normalized for urine concentration, is above the upper limit of normal. + + + Elevated urinary 3-hydroxyadipate level + Elevated urinary 3-hydroxyadipic acid level + + + + + + + + + Concentration of galactose-1-phosphate in red blood cells (erythrocytes) above the upper level of normal. + + + Impaired activity of galactose-1-phosphate uridyltransferase (GALT) causes classic galactosemia (OMIM 230400), characterized by the accumulation of galactose-1-phosphate (GAL1P) in patients' red blood cells (RBCs). + Elevated erythrocyte galactose-1-phosphate concentration + + + + + Concentration of galactose-1-phosphate in red blood cells (erythrocytes) above the upper level of normal. + PMID:30172461 + + + + + + + + + Increased activity or concentration of the enzyme chitotriosidase. Serum chitotriosidase is a biomarker that has shown high specificity and sensitivity in patients with sarcoidosis. + + + Significantly higher chitotriosidase activity can be observed in sarcoidosis patients than in healthy controls. + Elevated circulating chitotriosidase activity + + + + + Increased activity or concentration of the enzyme chitotriosidase. Serum chitotriosidase is a biomarker that has shown high specificity and sensitivity in patients with sarcoidosis. + PMID:31906975 + + + + + + + + + Premature closure of the squamosal suture, which is one of the lateral minor skull sutures, separating the parietal and squamous temporal bones. + + + Squamosal suture synostosis + + + + + Premature closure of the squamosal suture, which is one of the lateral minor skull sutures, separating the parietal and squamous temporal bones. + PMID:27438438 + + + + + + + + + The size (volume) of the lungs of a fetus above the upper limit of normal for the gestational age. + + + Enlarged fetal lungs + + + + + The size (volume) of the lungs of a fetus above the upper limit of normal for the gestational age. + PMID:7747754 + + + + + + + + + An inflammatory condition localized to the orbit, presenting capillary dilatation, leukocytic infiltration, redness, heat, and pain. CT or MIR Imaging demonstrates enlargement of the muscle belly of one (or more) extraocular muscles typically with the involvement of tendinous insertions. Inflammation can also be observed in surrounding tissues, including the orbital fat, lacrimal gland, and optic nerve sheath. + + + Orbital inflammation + + + + + + + + + Concentration or activity of inositol polyphosphate 5-phosphatase OCRL-1 as measured in cultured fibroblasts is below the limits of normal. This enzyme has phosphoinositide 5-phosphatase (EC 3.1.3.36) activity. + + + Reduced Inositol polyphosphate 5-phosphatase OCRL-1 activity in cultured fibroblasts + + + + + Concentration or activity of inositol polyphosphate 5-phosphatase OCRL-1 as measured in cultured fibroblasts is below the limits of normal. This enzyme has phosphoinositide 5-phosphatase (EC 3.1.3.36) activity. + PMID:20301653 + + + + + + + + + Activity of the gycogen debrancher enzyme (GDE) in muscle tissue is below the lower limit of normal. GDE is a large monomeric protein with two catalytic activities: amylo-1,6-glucosidase (EC 3.2.1.33) and 4-alpha-glucanotransferase (EC 2.4.1.25). + + + Reduced muscle glycogen debrancher enzyme activity + + + + + Activity of the gycogen debrancher enzyme (GDE) in muscle tissue is below the lower limit of normal. GDE is a large monomeric protein with two catalytic activities: amylo-1,6-glucosidase (EC 3.2.1.33) and 4-alpha-glucanotransferase (EC 2.4.1.25). + PMID:10472540 + + + + + + + + + Concentration or activity of uridine diphosphate glucuronosyltransferase below the lower limit of normal. The activity of this enzyme can be measured in liver and rarely in other tissues. + + + Reduced liver uridine diphosphate glucuronosyltransferase activity + Reduced tissue uridine diphosphate glucuronosyltransferase activity + Reduced tissue UDP-glucuronyl-transferase activity + + + + + Concentration or activity of uridine diphosphate glucuronosyltransferase below the lower limit of normal. The activity of this enzyme can be measured in liver and rarely in other tissues. + PMID:9869613 + + + + + + + + + The presence of giant cells in the temporal artery. This is a feature of giant cell arteritis. Giant cells are multinucleated cells formed by fusion of multiple macrophages and are typically located in the intima of the arterial wall. This feature is typically demonstrated by temporal artery biopsy but other arteries may also be affected. + + + See Figure 1 of PMID:37787225. + Temporal artery giant cells + + + + + The presence of giant cells in the temporal artery. This is a feature of giant cell arteritis. Giant cells are multinucleated cells formed by fusion of multiple macrophages and are typically located in the intima of the arterial wall. This feature is typically demonstrated by temporal artery biopsy but other arteries may also be affected. + PMID:37787225 + + + + + + + + + Activity of phosphoenolpyruvate carboxykinase (EC 4.1.1.32) is below the lower limit of normal in cultured fibroblasts. + + + Reduced phosphoenolpyruvate carboxykinase activity in cultured fibroblasts + + + + + Activity of phosphoenolpyruvate carboxykinase (EC 4.1.1.32) is below the lower limit of normal in cultured fibroblasts. + PMID:107509 + + + + + + + + + The amount of pyrroline hydroxycarboxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal. + + + Elevated urinary 3-hydroxy-L-1-pyrroline-5-carboxylate level + Elevated urine L-delta1-pyrroline 3-hydroxy-5-carboxylate level + Elevated urinary pyrroline hydroxycarboxylic acid level + + + + + The amount of pyrroline hydroxycarboxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal. + PMID:9700195 + + + + + + + + + Presence of N tau-ribosylhistidine (His-R) in the urine. His-R is a histidine derivative found in the urine of histidinemic patients. + + + Elevated urinary N-ribosylhistidine level + Elevated urinary N-tau-ribosylhistidine level + + + + + Presence of N tau-ribosylhistidine (His-R) in the urine. His-R is a histidine derivative found in the urine of histidinemic patients. + PMID:2992472 + + + + + + + + + The amount of ureidoisobutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal. Ureidoisobutyric acid is increased in the urine of patients with beta-ureidopropionase (EC 3.5.1.6) deficiency. + + + Elevated urinary ureidoisobutyric acid level + + + + + The amount of ureidoisobutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal. Ureidoisobutyric acid is increased in the urine of patients with beta-ureidopropionase (EC 3.5.1.6) deficiency. + PMID:12271438 + + + + + + + + + The amount of N-carbamyl-beta-aminoisobutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal. + + + Elevated urinary N-carbamyl-beta-aminoisobutyric acid level + + + + + + + + + Malignant, intraepithelial adenocarcinoma cells of variable sizes usually large in size, present singly or in the form of small groups within the epidermis of the nipple. Cells may be ovoid, round, or signet-ring forms, usually mucin positive, and the cytoplasm may contain periodic acid-Schiff (PAS)-positive, diastase-resistant granules, indicating the presence of neutral mucopolysaccharides. The cells possess microscopic features of glandular cells with pale to clear vacuolated cytoplasm, and nuclei are usually high-grade with prominent nucleoli. + + + Nipple epidermal Paget cells + + + + + Malignant, intraepithelial adenocarcinoma cells of variable sizes usually large in size, present singly or in the form of small groups within the epidermis of the nipple. Cells may be ovoid, round, or signet-ring forms, usually mucin positive, and the cytoplasm may contain periodic acid-Schiff (PAS)-positive, diastase-resistant granules, indicating the presence of neutral mucopolysaccharides. The cells possess microscopic features of glandular cells with pale to clear vacuolated cytoplasm, and nuclei are usually high-grade with prominent nucleoli. + PMID:33085375 + + + + + + + + + Partial pressure of oxygen (pO2) in cavernous blood of the penis is below the lower limit of normal. + + + Penile corporal blood gas ischemia + + + + + Partial pressure of oxygen (pO2) in cavernous blood of the penis is below the lower limit of normal. + PMID:38496140 + + + + + + + + + A history of an injury to the temporal region of the skull that occurred recently (several hours, days, or weeks before the current presenting complaint). + + + Recent temporal region trauma + + + + + + + + + Rest pain is a continuous unrelenting pain due to ischemia of the lower leg, beginning with or being aggravated by elevation and being relieved by sitting with legs in a dependent position or by standing. + + + Critical limb ischemia + Rest limb pain + + + + + Rest pain is a continuous unrelenting pain due to ischemia of the lower leg, beginning with or being aggravated by elevation and being relieved by sitting with legs in a dependent position or by standing. + PMID:25770636 + PMID:28613608 + + + + + + + + + A lesion associated with pseudomyxoma peritonei whosetypical CT appearance is scalloping of the surface of the liver and spleen caused by loculated accumulations of mucin, which distinguishes mucin from fluid ascites. The mucinous material is similar in density to water. There are also islands of higher attenuation due to scattered solid elements and calcification within mucinous material. + + + Scalloping of surface of liver and spleen + Scalloping of the surface of the liver and spleen + Scalloped appearance of liver surface + + + + + A lesion associated with pseudomyxoma peritonei whosetypical CT appearance is scalloping of the surface of the liver and spleen caused by loculated accumulations of mucin, which distinguishes mucin from fluid ascites. The mucinous material is similar in density to water. There are also islands of higher attenuation due to scattered solid elements and calcification within mucinous material. + PMID:31082160 + + + + + + + + + Thickening of the skin around the nipple. + + + Nipple thickening + + + + + + + + + A breast mass visualized by sonography that displays a lower than normal echo signal (and this that appears dark gray in the typical ultrasound image). + + + Hypoechoic breast nodule + Ultrasonography (US) is an essential tool for evaluating breast masses. Irregular hypoechoic masses on breast ultrasound are usually considered suspicious lesions. + Hypoechoic breast mass + + + + + A breast mass visualized by sonography that displays a lower than normal echo signal (and this that appears dark gray in the typical ultrasound image). + PMID:26576116 + + + + + + + + + An ovarian cyst without septa and a solid component. + + + Unilocular ovarian cyst + + + + + An ovarian cyst without septa and a solid component. + PMID:25797108 + + + + + + + + + Mesenteric torsion is a pathological rotation of the intestinal tract around the axis of the mesenteric root, resulting in rapid occlusion of the cranial mesenteric artery. + + + Mesenteric torsion + + + + + + + + + Abnormal bowel sounds of an unually high frequency. + + + This finding is characteristic of Ogilvie syndrome. + High-pitched bowel sounds + + + + + Abnormal bowel sounds of an unually high frequency. + PMID:30252358 + + + + + + + + + Applied to a sign orr symptom that is worsed by administration of opiate medications. + + + Opiate drugs increase pain in narcotic bowel syndrome. + Exacerbated by opiate medication + + + + + + + + + Formation of a non-necrotizing granuloma in breat tissue typically in combination with a localized infiltrate of multi-nucleated giant cells, epithelioid histiocytes, lymphocytes, and plasma cells. + + + Granulomatous mastitis + Breast granuloma + + + + + Formation of a non-necrotizing granuloma in breat tissue typically in combination with a localized infiltrate of multi-nucleated giant cells, epithelioid histiocytes, lymphocytes, and plasma cells. + PMID:30800035 + + + + + + + + + A history of exposure to fragrances found in cosmetic products. + + + Exposure to cosmetic fragrances + + + + + + + + + Sweating and flushing in the preauricular area in response to mastication or a salivary stimulus. Facial warmth, flushing, and sweating in the territory of the auriculotemporal nerve overlying the parotid gland, which may include the preauricular skin, the temporal skin, the scalp, and the temporomandibular joint region. Symptoms occur during meals, especially with spicy and sour foods. This feature is inferred to be a consequence of injury to the auriculotemporal nerve, a branch if the trigeminal nerve. + + + Frey syndrome + Sweating and flushing in the preauricular area in response to mastication + + + + + Sweating and flushing in the preauricular area in response to mastication or a salivary stimulus. Facial warmth, flushing, and sweating in the territory of the auriculotemporal nerve overlying the parotid gland, which may include the preauricular skin, the temporal skin, the scalp, and the temporomandibular joint region. Symptoms occur during meals, especially with spicy and sour foods. This feature is inferred to be a consequence of injury to the auriculotemporal nerve, a branch if the trigeminal nerve. + PMID:32965918 + + + + + + + + + Activity of glyoxylate reductase/hydroxypyruvate reductase (GRHPR; EC 1.1.1.79) in liver below the lower limit of normal. + + + Reduced hepatic hydroxypyruvate reductase activity + Reduced hepatic glyoxylate reductase activity + + + + + Activity of glyoxylate reductase/hydroxypyruvate reductase (GRHPR; EC 1.1.1.79) in liver below the lower limit of normal. + PMID:12185464 + + + + + + + + + Presence of lymphocytes with positive staining for periodic acid-Schiff (PAS) cytoplasmic vacuoles. + + + Pompe disease (glycogen storage disease type II, acid maltase deficiency) is an inherited metabolic disorder in which a deficiency of the lysosomal enzyme acid alpha-glucosidase (EC 3.2.1.3/20) causes glycogen storage. Vacuolated lymphocytes - in essence, lysosomes filled with nondegraded material occur in many storage disorders. Glycogen storage in Pompe disease is found in lysosomes throughout the body, including lymphocytes in peripheral blood, liver, and skin. + PAS-positive lymphocyte vacuolization + + + + + Presence of lymphocytes with positive staining for periodic acid-Schiff (PAS) cytoplasmic vacuoles. + PMID:20107902 + + + + + + + + + Bone marrow with increased numbers of macrophages heavily laden with lipids. + + + Lipid-laden bone-marrow macrophages + + + + + + + + + Increased count of monocytes in the bone marrow. + + + Bone marrow monocytes increased + Bone marrow monocytosis + + + + + + + + + Sunflower cataract (SC) is a type of anterior subcapsular cataract almost only seen in Wilson disease, an autosomal-recessive condition with a defect in the metabolism of copper leading to accumulation of copper in the liver and basal ganglia. SC consists of a thin, centralized opacification that is located directly under the anterior capsule and encompasses between one-third and one-half of the anterior lens pole surface area. In all cases, the central opacification is surrounded by additional, secondary opacifications arranged in ray-like structures around it. This pattern is said to resemble a sunflower, with a large central disk surrounded by petals. + + + Sunflower cataract + + + + + Sunflower cataract (SC) is a type of anterior subcapsular cataract almost only seen in Wilson disease, an autosomal-recessive condition with a defect in the metabolism of copper leading to accumulation of copper in the liver and basal ganglia. SC consists of a thin, centralized opacification that is located directly under the anterior capsule and encompasses between one-third and one-half of the anterior lens pole surface area. In all cases, the central opacification is surrounded by additional, secondary opacifications arranged in ray-like structures around it. This pattern is said to resemble a sunflower, with a large central disk surrounded by petals. + PMID:25609909 + PMID:26577266 + + + + + + + + + The presence of autoantibodies (immunoglobulins) in the blood circulation that react against lamin A. + + + LMNA antibody positivity + PCNA antibody positivity + Prelamin A antibody positivity + ki-67 antibody positivity + Anti-lamin A antibody positivity + + + + + The presence of autoantibodies (immunoglobulins) in the blood circulation that react against lamin A. + PMID:1959878 + PMID:2271902 + + + + + + + + + The presence of autoantibodies in the blood circulation that react against human lamin C. + + + Prelamin C antibody positivity + Anti-lamin C antibody positivity + + + + + The presence of autoantibodies in the blood circulation that react against human lamin C. + PMID:1290474 + PMID:1959878 + + + + + + + + + The presence of autoantibodies (immunoglobulins) in the blood circulation that react against vinculin. + + + Anti-vinculin antibody positivity + + + + + The presence of autoantibodies (immunoglobulins) in the blood circulation that react against vinculin. + PMID:33411141 + PMID:35876914 + + + + + + + + + The presence of autoantibodies (immunoglobulins) in the blood circulation that react against annexin A5. + + + Anti-annexin A5 antibody positivity + + + + + The presence of autoantibodies (immunoglobulins) in the blood circulation that react against annexin A5. + PMID:15652780 + PMID:9067499 + + + + + + + + + An outward curving of a fontanelle, which occurs when fluid builds up in the brain or the brain swells, causing increased pressure inside the skull. + + + Tense fontanelle + Bulging fontanelle + + + + + An outward curving of a fontanelle, which occurs when fluid builds up in the brain or the brain swells, causing increased pressure inside the skull. + PMID:12825844 + + + + + + + + + A soft tissue continuity in the anteroposterior axis between the toes 3 and 4. + + + 3-4 toe cutaneous syndactyly + + + + + A soft tissue continuity in the anteroposterior axis between the toes 3 and 4. + PMID:25251565 + + + + + + + + + Nail so wide as long with a distal part presenting an acute angle. + + + Triangular shaped nail + Triangular nail + + + + + Nail so wide as long with a distal part presenting an acute angle. + PMID:20579456 + PMID:25251565 + PMID:27660117 + + + + + + + + + + Fusion of the distal (i.e.., located away from the trunk) part of the tibia and fibula. + + + Distal tibial and fibular fusion + Distal tibiofibular synostosis + + + + + Fusion of the distal (i.e.., located away from the trunk) part of the tibia and fibula. + PMID:27326275 + PMID:27577507 + + + + + + + + + + Any abnormal process of ossification of the metacarpal bones, which normally are each ossified from two centers: one for the body, and one for the head (metacarpal II,III,IV, and V) and one for the body and one for the base (metacarpal I). At the eighth to ninth week of fetal life, ossification commences in the middle of the body. At the third year the distal extremities of the metacarpals of the fingers and the base of the metacarpal of the thumb begin to ossify; they unite with the bodies at about the twentieth year. + + + Abnormal maturation of long bone of hand + Abnormal ossification involving metacarpal bones + Abnormal metacarpal ossification + + + + + Any abnormal process of ossification of the metacarpal bones, which normally are each ossified from two centers: one for the body, and one for the head (metacarpal II,III,IV, and V) and one for the body and one for the base (metacarpal I). At the eighth to ninth week of fetal life, ossification commences in the middle of the body. At the third year the distal extremities of the metacarpals of the fingers and the base of the metacarpal of the thumb begin to ossify; they unite with the bodies at about the twentieth year. + PMID:12624140 + + + + + + + + + A bony projection (spur, osteophyte) originating from a rib. + + + Rib spur + + + + + A bony projection (spur, osteophyte) originating from a rib. + PMID:36388615 + + + + + + + + + Deficient mineralization of the iliac wings, giving a paraglider/crescent shape to the iliac bone. + + + Crescent-shaped iliac wing + Paraglider shape iliac bone + Crescent-shaped iliac bone + + + + + Deficient mineralization of the iliac wings, giving a paraglider/crescent shape to the iliac bone. + PMID:28744080 + + + + + + + + + An abnormality of the formation and mineralization of ischial bones. + + + Abnormal ossification of the ischium + Abnormal ischium ossification + + + + + An abnormality of the formation and mineralization of ischial bones. + PMID:9933334 + + + + + + + + + A partial or complete breakage of the neck of femur. + + + Broken femoral neck + Fractured neck of femur + Femoral neck fracture + + + + + A partial or complete breakage of the neck of femur. + PMID:30726032 + + + + + + + + + Accumulation of eosinophilic hyaline material observed around the papillary dermis and the blood vessels located in it. The papillary dermis is the uppermost layer of the dermis. It intertwines with the rete ridges of the epidermis and is composed of fine and loosely arranged collagen fibers. + + + Papillary dermis eosinophilic hyaline material + + + + + Accumulation of eosinophilic hyaline material observed around the papillary dermis and the blood vessels located in it. The papillary dermis is the uppermost layer of the dermis. It intertwines with the rete ridges of the epidermis and is composed of fine and loosely arranged collagen fibers. + PMID:26803878 + + + + + + + + + Intraductal papillary mucinous neoplasm (IPMN) is an exocrine neoplasm of the pancreas consisting of epithelial cells growing within the pancreatic ducts (main pancreatic duct or its major branches) and producing mucin. IPMN is a mucin-producing pancreatic cystic tumor. IPMN contains epithelial cells that can create papillary projections. + + + Pancreatic intraductal papillary mucinous neoplasm + + + + + Intraductal papillary mucinous neoplasm (IPMN) is an exocrine neoplasm of the pancreas consisting of epithelial cells growing within the pancreatic ducts (main pancreatic duct or its major branches) and producing mucin. IPMN is a mucin-producing pancreatic cystic tumor. IPMN contains epithelial cells that can create papillary projections. + PMID:35070031 + + + + + + + + + A type of vasculitis (inflammation of blood vessel walls) that affects medium-sized blood vessels. By common usage, vasculitis predominantly refers to arterial disease. Medium-sized vasculitis is observed in diseases including polyarteritis nodosa, Kawasaki disease, and cutaneous polyarteritis nodosa. + + + Medium-size-vessel vasculitis + Medium vessel vasculitis + + + + + A type of vasculitis (inflammation of blood vessel walls) that affects medium-sized blood vessels. By common usage, vasculitis predominantly refers to arterial disease. Medium-sized vasculitis is observed in diseases including polyarteritis nodosa, Kawasaki disease, and cutaneous polyarteritis nodosa. + PMID:19946711 + + + + + + + + + A decreased amount of laminin alpha-5 in muscle tissue. This feature can be shown by immunohistochemistry or Western blotting of muscle tissue. Laminin subunit alpha-5 is a protein encoded by the LAMA5 gene. + + + Elevated muscle fiber laminin alpha 5 expression + + + + + A decreased amount of laminin alpha-5 in muscle tissue. This feature can be shown by immunohistochemistry or Western blotting of muscle tissue. Laminin subunit alpha-5 is a protein encoded by the LAMA5 gene. + PMID:21953594 + + + + + + + + + A swelling or enlargment localized next to the vertebral column. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. + + + Paravertebral mass + + + + + A swelling or enlargment localized next to the vertebral column. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. + PMID:30517335 + + + + + + + + + A calcified structure that forms within a vein. The pathogenesis of phleboliths is thought to involve an organized thrombus produced when the peripheral blood flow slows. The thrombus calcifies, form- ing the core of the phlebolith. Then, the fibrinous com- ponent undergoes secondary calcification and becomes attached. Repetition of this process causes enlargement of the phlebolith. + + + Phlebolith + + + + + A calcified structure that forms within a vein. The pathogenesis of phleboliths is thought to involve an organized thrombus produced when the peripheral blood flow slows. The thrombus calcifies, form- ing the core of the phlebolith. Then, the fibrinous com- ponent undergoes secondary calcification and becomes attached. Repetition of this process causes enlargement of the phlebolith. + PMID:37981851 + + + + + + + + + A perforation in the wall of the urinary bladder. Bladder rupture, a relatively rare condition, is most commonly due to abdominal or pelvic trauma but may be spontaneous or iatrogenic in association with surgical or endoscopic procedures. In most cases, patients with bladder rupture have gross hematuria. Other symptoms of bladder rupture include pelvic pain, lower abdominal pain, and difficulty voiding. + + + Bladder rupture + + + + + A perforation in the wall of the urinary bladder. Bladder rupture, a relatively rare condition, is most commonly due to abdominal or pelvic trauma but may be spontaneous or iatrogenic in association with surgical or endoscopic procedures. In most cases, patients with bladder rupture have gross hematuria. Other symptoms of bladder rupture include pelvic pain, lower abdominal pain, and difficulty voiding. + PMID:29262195 + + + + + + + + + Increased amount of iron in myocardial tissue. + + + Cardiac iron overload + MRI: heart iron content increased + This feature can be assesed by magnetic resonance imaging (MRI). MRI as a reliable, valid, and robust method can provide indirect assessment of cardiac iron overload. Even, it has been advised to determination the degree of cardiac iron overload.8 The reciprocals of T2 and T2*, known as R2 and R2*, are directly proportional to iron. This feature can be seen as a consequence of transfusion treatment in thalassemia. + Elevated myocardial iron load + + + + + Increased amount of iron in myocardial tissue. + PMID:16888797 + PMID:28458697 + + + + + + + + + The occurrence of abnormal or absent contractility of a region of the heart muscle of the right ventricule. Conventional assessment of RWMA is based on visual interpretation of endocardial excursion and myocardial thickening from the echocardiogram videos. + + + Right ventricular regional wall motion abnormality + + + + + The occurrence of abnormal or absent contractility of a region of the heart muscle of the right ventricule. Conventional assessment of RWMA is based on visual interpretation of endocardial excursion and myocardial thickening from the echocardiogram videos. + PMID:36700970 + + + + + + + + + A region of the right ventricle exhibits absent contraction (akinesia) compared to the rest of the ventricle. + + + This finding can be observed in arrhythmogenic right ventricular cardiomyopathy and other diseases. + Right ventricular regional akinesia + + + + + A region of the right ventricle exhibits absent contraction (akinesia) compared to the rest of the ventricle. + PMID:20172912 + + + + + + + + + A region of the right ventricle exhibits abnormal contraction (dyskinesia) compared to the rest of the ventricle, leading to outward bulging or ballooning during contraction or inadequate inward movement. + + + Right ventricular regional dyskinesia + + + + + A region of the right ventricle exhibits abnormal contraction (dyskinesia) compared to the rest of the ventricle, leading to outward bulging or ballooning during contraction or inadequate inward movement. + PMID:20172912 + + + + + + + + + A localized, abnormal dilation or bulging of a portion of the right ventricular wall. + + + Right ventricular outpouching + Right ventricular aneurysm can be observed following myocardial infarction, trauma, or infections and with certain congenital heart defects. + Right ventricular aneurysm + + + + + A localized, abnormal dilation or bulging of a portion of the right ventricular wall. + PMID:34256889 + + + + + + + + + Accumulation of immune deposits, containing immunoglobulins, complement, and other proteins, at various intraglomerular locations. This can lead to glomerulonephritis, with the type of injury that results being dependent on four factors: the mechanism of the deposit formation, the site of deposit formation, the composition of the deposits and the amount of the deposits. + + + Glomerular immune-complex deposition + + + + + Accumulation of immune deposits, containing immunoglobulins, complement, and other proteins, at various intraglomerular locations. This can lead to glomerulonephritis, with the type of injury that results being dependent on four factors: the mechanism of the deposit formation, the site of deposit formation, the composition of the deposits and the amount of the deposits. + PMID:16189625 + + + + + + + + + Accumulation of immune deposits, containing auto-antibodies against the podocyte antigen M-type phospholipase A2 receptor (PLA2R) in intraglomerular locations. + + + This feature is seen in the majority of cases of primary membranous nephropathy. + Glomerular PLA2R immune-complex deposition + + + + + Accumulation of immune deposits, containing auto-antibodies against the podocyte antigen M-type phospholipase A2 receptor (PLA2R) in intraglomerular locations. + PMID:21323563 + PMID:25997506 + + + + + + + + + The amount of L-glycerate in the urine, normalized for urine concentration, is above the upper limit of normal. + Elevated urinary L-glycerate level + + + + + The amount of L-glycerate in the urine, normalized for urine concentration, is above the upper limit of normal. + PMID:24116921 + + + + + + + + + A rare, benign mesenchymal tumor of the breast characterized histologically by stellate, round, and spindle-shaped cells with vesicular nuclei and scant cytoplasm that are scattered in the myxoid stroma. + + + Breast myxoma + + + + + A rare, benign mesenchymal tumor of the breast characterized histologically by stellate, round, and spindle-shaped cells with vesicular nuclei and scant cytoplasm that are scattered in the myxoid stroma. + PMID:17214801 + + + + + + + + + A common, benign ovarian tumor that carries a good prognosis. The two most frequent types of cystadenomas are serous and mucinous cystadenomas whereas endometrioid and clear cell cystadenomas are rare. + + + Ovarian cystadenoma + + + + + A common, benign ovarian tumor that carries a good prognosis. The two most frequent types of cystadenomas are serous and mucinous cystadenomas whereas endometrioid and clear cell cystadenomas are rare. + PMID:30725635 + + + + + + + + + Any deviation from the normal concentration of N-acetylaspartic acid in the cerebrospinal fluid (CSF). + + + Elevated urine 2-betanone level + Butanone, also known as aethylmethylketon or methyl acetone, belongs to the class of organic compounds known as ketones. + Abnormal CSF N-acetylaspartic acid concentration + + + + + + + + + Concentration of N-acetylaspartic acid in the cerebrospinal fluid below the lower limit of normal. + + + Decreased CSF N-acetylaspartate acid concentration + N-acetylaspartate absent in CSF + Decreased CSF N-acetylaspartic acid concentration + + + + + + + + + The amount of mevalonate lactone in the urine, normalized for urine concentration, is above the upper limit of normal. + + + This finding has been observed in squalene synthase deficiency. + Elevated urinary mevalonate lactone level + + + + + The amount of mevalonate lactone in the urine, normalized for urine concentration, is above the upper limit of normal. + PMID:29909962 + + + + + + + + + The presence of autoantibodies in the serum that react to von Willebrand factor (VWF). + + + This feature is usually seen in the context of Von Willebrand disease (VWD), the most common inherited bleeding disorder. VWD is caused by deficiency or dysfunction of the multimeric glycoprotein, von Willebrand factor (VWF), and is clinically characterized by excessive mucocutaneous bleeding as well as musculoskeletal bleeding in type 3 VWD, the most severe form. Treatment options include infusion of concentrates of VWF, which in some patients leads to the production of alloantikbodies. + Anti-von Willebrand factor antibody positivity + + + + + The presence of autoantibodies in the serum that react to von Willebrand factor (VWF). + PMID:23297130 + + + + + + + + + The count of natural killer cells per volume of blood is above the upper limit of normal. + + + Elevated natural killer cell count + + + + + + + + + The presence of autoantibodies (immunoglobulins) in the serum that display a high degree of specificity for idiopathic inflammatory myopathy (myositis-specific autoantibodies (MSAs)). MSAs are clinically useful biomarkers to help the diagnosis of polymyositis/dermatomyositis (PM/DM). Many of these are also associated with a unique clinical subset of PM/DM, making them useful in predicting and monitoring certain clinical manifestations. + + + Myositis-specific autoantibody positivity + + + + + The presence of autoantibodies (immunoglobulins) in the serum that display a high degree of specificity for idiopathic inflammatory myopathy (myositis-specific autoantibodies (MSAs)). MSAs are clinically useful biomarkers to help the diagnosis of polymyositis/dermatomyositis (PM/DM). Many of these are also associated with a unique clinical subset of PM/DM, making them useful in predicting and monitoring certain clinical manifestations. + PMID:26424665 + + + + + + + + + Any deviation from the normal range of the serum osmolality, defined as the sum of the osmolalities of every single dissolved particle in the blood such as sodium and associated anions, potassium, glucose, and urea. + + + Abnormal serum osmolality + + + + + Any deviation from the normal range of the serum osmolality, defined as the sum of the osmolalities of every single dissolved particle in the blood such as sodium and associated anions, potassium, glucose, and urea. + PMID:35779183 + + + + + + + + + Serum osmolality, which is defined as the sum of the osmolalities of every single dissolved particle in the blood such as sodium and associated anions, potassium, glucose, and urea, is below the lower limit of normal. + + + Low serum osmolality + + + + + Serum osmolality, which is defined as the sum of the osmolalities of every single dissolved particle in the blood such as sodium and associated anions, potassium, glucose, and urea, is below the lower limit of normal. + PMID:35779183 + + + + + + + + + Serum osmolality, which is defined as the sum of the osmolalities of every single dissolved particle in the blood such as sodium and associated anions, potassium, glucose, and urea, is above the upper limit of normal. + + + High serum osmolality + + + + + Serum osmolality, which is defined as the sum of the osmolalities of every single dissolved particle in the blood such as sodium and associated anions, potassium, glucose, and urea, is above the upper limit of normal. + PMID:35779183 + + + + + + + + + A past medical history of having been treated with tight bandages, compression sleeve, tight casts or splints, immobilizers, or similar items such as overly tight clothes, watch bands, or handcuffs. + + + History of compressive dressings + + + + + + + + + Applies to a sign or symptom that is induced by repeatedly performing overhead motions, such as painting a ceiling or working on objects located above the head, or some types of athletics. + + + Triggered by overhead activity + This trigger can apply to rotator cuff syndrome. + Triggered by overhead motions + + + + + Applies to a sign or symptom that is induced by repeatedly performing overhead motions, such as painting a ceiling or working on objects located above the head, or some types of athletics. + PMID:23040553 + + + + + + + + + Pain that is perceived to extend or spread out from one area of the body to another. + + + Radiating pain + + + + + + + + + Opening snap is an additional sound heard in the diastole that is related to the opening of a stenotic but mobile mitral valve. It is described as an early diastolic, high-pitched sound, which is associated with opening of the mitral and/or tricuspid valve. + + + Mitral opening snap + + + + + Opening snap is an additional sound heard in the diastole that is related to the opening of a stenotic but mobile mitral valve. It is described as an early diastolic, high-pitched sound, which is associated with opening of the mitral and/or tricuspid valve. + PMID:17448551 + + + + + + + + + Abnormally increased amount of mucus in the feces. Mucus is a slippery aqueous secretion produced by mucous membranes including those of the intestines. + + + Mucus in stool + + + + + + + + + The concentration of C-C Motif Ligand 3 (CCL3) in the blood circulation is above the upper limit of normal. + + + Elevated circulating CCL3 concentration + + + + + + + + + The concentration of C-C Motif Ligand 4 (CCL4) in the blood circulation is above the upper limit of normal. + + + Elevated circulating CCL4 concentration + + + + + + + + + The concentration of 14-3-3 protein in the cerebrospinal fluid (CSF) is above the upper limit of normal. + + + Elevated CSF 14-3-3 protein concentration + + + + + The concentration of 14-3-3 protein in the cerebrospinal fluid (CSF) is above the upper limit of normal. + PMID:22993290 + + + + + + + + + Concentration of dihydrobiopterin in the cerebrospinal fluid (CSF) above the upper limit of normal. + + + Elevated CSF dihydrobiopterin concentration + + + + + + + + + Atrial fibrosis is an hallmark of atrial structural remodelling, characterized by the aberrant activation, proliferation and differentiation of fibroblasts, and subsequent excessive synthesis and irregular deposition of extracellular matrix proteins. + + Atrial fibrillation (AF) is one of the most common tachyarrhythmias observed in the clinic and is characterized by structural and electrical remodelling. Atrial fibrosis, an emblem of atrial structural remodelling, is a complex multifactorial and patient-specific process involved in the occurrence and maintenance of AF. + Left atrial fibrosis + + + + + Atrial fibrosis is an hallmark of atrial structural remodelling, characterized by the aberrant activation, proliferation and differentiation of fibroblasts, and subsequent excessive synthesis and irregular deposition of extracellular matrix proteins. + PMID:28882227 + PMID:33448312 + + + + + + + + + The concentration in the blood circulation of atrial natriuretic peptide pro-hormone or one of its processed fragments is outside of the range of normal. + + Abnormal circulating atrial natriuretic peptide pro-hormone concentration + + + + + + + + + The concentration of NT-proANP in the blood circulation is below the lower limit of normal. + + Reduced long-acting natriuretic peptide concentration + The 126-amino acid peptide atrial natriuretic peptide pro-hormone (proANP1-126) is synthesized and stored in atrial myocytes. Upon distension of the cardiac atria, proANP(residues 1-126) is cleaved and equimolar amounts of the C-terminal fragment proANP(99-126) (ANP) and an N-terminal fragment (proANP(1-98) are secreted from the atria. The N-terminal fragment is subsequently cleaved into smaller peptide fragments, which have natriuretic, diuretic, blood pressure-lowering and kaliuretic properties. ANP is a potent mediator of natriuresis and vasodilatation. Whereas ANP is rapidly removed from the circulation [10], the N-terminal fragments, such as the proANP(1-30) fragment (Nt-proANP), which is also termed long-acting natriuretic peptide and has strong salt-excreting properties itself, are stable and remain in the circulation at manifold higher concentrations than ANP. Nt-proANP measured in peripheral plasma is therefore less prone to fluctuation and may thus be a more reliable measure of atrial ANP secretion than peripheral plasma concentration of ANP itself. + Reduced circulating NT-proANP concentration + + + + diff --git a/hp.obo b/hp.obo index 24d1f32cf..3cccd2130 100644 --- a/hp.obo +++ b/hp.obo @@ -1,5 +1,5 @@ format-version: 1.2 -data-version: hp/releases/2024-03-06 +data-version: hp/releases/2024-04-03 subsetdef: hposlim_core "Core clinical terminology" subsetdef: secondary_consequence "Consequence of a disorder in another organ system." synonymtypedef: abbreviation "abbreviation" @@ -21,7 +21,7 @@ property_value: http://purl.org/dc/elements/1.1/subject "Phenotypic abnormalitie property_value: http://purl.org/dc/elements/1.1/title "Human Phenotype Ontology" xsd:string property_value: http://purl.org/dc/terms/license https://hpo.jax.org/app/license property_value: IAO:0000700 HP:0000001 -property_value: owl:versionInfo "2024-03-06" xsd:string +property_value: owl:versionInfo "2024-04-03" xsd:string logical-definition-view-relation: has_part [Term] @@ -2379,7 +2379,7 @@ id: HP:0000222 name: Gingival hyperkeratosis alt_id: HP:0007539 def: "Hyperkeratosis of the gingiva." [https://orcid.org/0000-0002-9338-3017] -comment: The condition results in the teeth being partially or totally engulfed by keratinized gingiva, causing aesthetic and functional problems. +comment: The condition results in the teeth being partially or totally engulfed by keratinized gingiva, causing esthetic and functional problems. synonym: "Hyperkeratosis, gingival" EXACT [] xref: UMLS:C1857013 is_a: HP:0000168 ! Abnormality of the gingiva @@ -3549,9 +3549,11 @@ name: Triangular face alt_id: HP:0004645 alt_id: HP:0004662 alt_id: HP:0004668 -def: "Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin." [https://orcid.org/0000-0002-9602-2321, PMID:19125436] +def: "Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin." [https://orcid.org/0000-0002-9602-2321, PMID:19125436, PMID:21166787, PMID:30515601] +comment: Several groups have used the term inverted triangular face to emphasize the fact that the point is facing downwards. subset: hposlim_core synonym: "Face with broad temples and narrow chin" EXACT layperson [https://orcid.org/0000-0001-5889-4463] +synonym: "Inverted triangular face" EXACT [] synonym: "Triangular face" EXACT layperson [] synonym: "Triangular facial shape" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Triangular facies" EXACT [] @@ -4475,10 +4477,11 @@ is_a: HP:0000436 ! Abnormal nasal tip morphology [Term] id: HP:0000415 -name: Abnormality of the choanae +name: Abnormal choanae morphology def: "Abnormality of the choanae (the posterior nasal apertures)." [https://orcid.org/0000-0002-0736-9199] +synonym: "Abnormality of the choanae" EXACT [] xref: UMLS:C4025855 -is_a: HP:0000366 ! Abnormality of the nose +is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000417 @@ -4829,7 +4832,7 @@ synonym: "Coanal stenosis" EXACT [] synonym: "Narrowing of the rear opening of the nasal cavity" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:306963008 xref: UMLS:C0584837 -is_a: HP:0000415 ! Abnormality of the choanae +is_a: HP:0000415 ! Abnormal choanae morphology [Term] id: HP:0000453 @@ -4844,7 +4847,7 @@ xref: Fyler:4203 xref: MSH:D002754 xref: SNOMEDCT_US:204508009 xref: UMLS:C0008297 -is_a: HP:0000415 ! Abnormality of the choanae +is_a: HP:0000415 ! Abnormal choanae morphology [Term] id: HP:0000454 @@ -5430,7 +5433,7 @@ is_a: HP:0001595 ! Abnormal hair morphology id: HP:0000501 name: Glaucoma def: "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [https://orcid.org/0000-0002-0736-9199, PMID:11815354] -comment: The feature that differentiates glaucoma from other causes of visual morbidity is a characteristic pattern of damage to the optic nerve head. This is most easily recognised at the superior and inferior poles of the optic disc. The vertical cup:disc ratio (VCDR) has proved to be a simple, relatively robust index of glaucomatous loss of the neuroretinal rim. As with intraocular pressure, VCDR is a continuous variable within the population. +comment: The feature that differentiates glaucoma from other causes of visual morbidity is a characteristic pattern of damage to the optic nerve head. This is most easily recognized at the superior and inferior poles of the optic disc. The vertical cup:disk ratio (VCDR) has proved to be a simple, relatively robust index of glaucomatous loss of the neuroretinal rim. As with intraocular pressure, VCDR is a continuous variable within the population. subset: hposlim_core xref: MSH:D005901 xref: SNOMEDCT_US:23986001 @@ -5869,7 +5872,7 @@ is_a: HP:0000286 ! Epicanthus id: HP:0000538 name: Pseudopapilledema def: "Apparent optic disc swelling in the absence of increased intracranial pressure." [https://orcid.org/0000-0002-0736-9199] -comment: Papilledema is disc edema secondary to increased intracranial pressure. +comment: Papilledema is disk edema secondary to increased intracranial pressure. subset: hposlim_core xref: MSH:C562401 xref: SNOMEDCT_US:57138009 @@ -5924,13 +5927,12 @@ id: HP:0000543 name: Optic disc pallor alt_id: HP:0001148 alt_id: HP:0001484 -def: "A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression." [https://orcid.org/0000-0002-0736-9199] +def: "A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression." [https://orcid.org/0000-0002-0736-9199] comment: Optic disc pallor can be judged clinically with serial color photographs or by comparison to the other eye. The pallor reflects replacement of dead axons by glial tissue. The loss of the small capillaries within the nerve accounts for the shift from orange-pink to white. subset: hposlim_core synonym: "Disc pallor" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Pale optic disc" EXACT [] synonym: "Pale optic discs" RELATED [https://orcid.org/0000-0002-5316-1399] -synonym: "Pale optic disk" EXACT [] xref: SNOMEDCT_US:302200001 xref: UMLS:C0554970 is_a: HP:0012795 ! Abnormal optic disc morphology @@ -6031,7 +6033,7 @@ def: "An anomaly in the ability to discriminate between or recognize colors." [h synonym: "Abnormal color vision" EXACT layperson [] synonym: "Abnormal colour vision" EXACT uk_spelling [] synonym: "Abnormality of color vision" EXACT layperson [] -synonym: "Abnormality of colour vision" EXACT [] +synonym: "Abnormality of colour vision" EXACT uk_spelling [] synonym: "Color vision defect, severe" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Color vision defects" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Colour vision defect" EXACT uk_spelling [] @@ -6462,7 +6464,7 @@ def: "A cleft of the optic nerve that extends inferiorly." [https://orcid.org/00 comment: A congenital, unilateral or bilateral congenital condition caused by incomplete closure of the embryonic fissure. subset: hposlim_core synonym: "Coloboma of optic nerve" EXACT [] -synonym: "Optic disk coloboma" EXACT [] +synonym: "Optic disc coloboma" EXACT [] synonym: "Optic nerve coloboma" EXACT [] xref: MSH:C535970 xref: SNOMEDCT_US:17541006 @@ -7089,7 +7091,7 @@ name: Optic atrophy alt_id: HP:0007751 alt_id: HP:0007855 def: "Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy." [https://orcid.org/0000-0002-0736-9199] -comment: The diagnosis of optic atrophy is made when the optic disc loses its normal orange-pink color. Optic atrophy is an end stage that arises from myriad causes of optic nerve damage anywhere along the path from the retina to the lateral geniculate. Some of the most common etiologies are advanced glaucoma, optic neuritis, arteritic or non-arteritic ischaemic optic neuropathy or a compressive lesion. +comment: The diagnosis of optic atrophy is made when the optic disc loses its normal orange-pink color. Optic atrophy is an end stage that arises from myriad causes of optic nerve damage anywhere along the path from the retina to the lateral geniculate. Some of the most common etiologies are advanced glaucoma, optic neuritis, arteritic or non-arteritic ischemic optic neuropathy or a compressive lesion. subset: hposlim_core synonym: "Optic nerve atrophy" EXACT [] synonym: "Optic-nerve degeneration" EXACT [] @@ -7210,7 +7212,7 @@ id: HP:0000657 name: Oculomotor apraxia alt_id: HP:0000628 alt_id: HP:0007764 -def: "Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex." [https://orcid.org/0000-0002-0736-9199, PMID:20615230] +def: "Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex." [https://orcid.org/0000-0002-0736-9199, PMID:20615230] comment: Oculomotor apraxia leads defective or absent horizontal voluntary eye movements with head thrusting to look at objects to the side as well as jerky, abnormal eye movements. subset: hposlim_core synonym: "Defective or absent horizontal voluntary eye movements" RELATED [] @@ -7489,7 +7491,7 @@ is_a: HP:3000050 ! Abnormal odontoid tissue morphology [Term] id: HP:0000683 name: Grayish enamel -def: "A grey discoloration of the dental enamel." [https://orcid.org/0000-0002-9338-3017] +def: "A gray discoloration of the dental enamel." [https://orcid.org/0000-0002-9338-3017] comment: Grey enamel may be seen in dentinogenesis imperfecta, but dentinogenesis imperfecta should be coded separately if present. synonym: "Gray colored tooth enamel" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Gray tooth shade" EXACT [https://orcid.org/0000-0001-5889-4463] @@ -7988,7 +7990,6 @@ name: Aggressive behavior def: "Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires)." [] synonym: "Aggression" EXACT layperson [] synonym: "Aggressive behavior" EXACT layperson [] -synonym: "Aggressive behaviour" EXACT layperson [] synonym: "Aggressiveness" EXACT layperson [] synonym: "physical aggression" RELATED layperson [] xref: MSH:D000374 @@ -8069,8 +8070,8 @@ name: Restrictive behavior def: "Behavior characterized by an abnormal limitation to a few interests and activities." [] synonym: "Restricted behavior" EXACT [] synonym: "Restricted behaviour" EXACT uk_spelling [] +synonym: "Restrictive behavior" EXACT [] synonym: "Restrictive behavior, interests, and activities" RELATED [https://orcid.org/0000-0002-5316-1399] -synonym: "Restrictive behaviour" EXACT [] xref: UMLS:C2675334 xref: UMLS:C4021799 is_a: HP:0031432 ! Restricted or repetitive behaviors or interests @@ -8151,21 +8152,21 @@ property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003 [Term] id: HP:0000733 -name: Abnormal repetitive mannerisms +name: Motor stereotypy alt_id: HP:0008758 alt_id: HP:0008759 def: "Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose." [] -synonym: "Motor stereotypy" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] -synonym: "repetitive behavior" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] +synonym: "Abnormal repetitive mannerism" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] +synonym: "Repetitive behavior" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "repetitive behaviour" EXACT uk_spelling [] -synonym: "Repetitive behaviour Stereotypic behavior" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Repetitive behaviour Stereotypic behaviour" EXACT uk_spelling [] synonym: "Repetitive movements" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0001-9114-8737, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] +synonym: "Repetitive, stereotypic behavior" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Stereotyped" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Stereotyped behavior" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Stereotyped behaviors" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Stereotyped behaviour" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] -synonym: "Stereotyped behaviours" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] +synonym: "Stereotyped behaviours" EXACT uk_spelling [] synonym: "Stereotypic behaviour" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Stereotypic behaviours" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Stereotypical motor behavior" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] @@ -8551,9 +8552,9 @@ is_a: HP:5200401 ! Abnormal judgment id: HP:0000758 name: Abnormal nonverbal communicative behavior def: "Abnormalities in eye contact, communicative facial expressions, gesture use, or the use of others' bodies to communicate convey shared meanings within a culture that replace or supplement verbal communication." [] -synonym: "Abnormal nonverbal communicative behaviour" EXACT [] +synonym: "Abnormal nonverbal communicative behavior" EXACT [] synonym: "Impaired use of nonverbal behaviors" EXACT layperson [https://orcid.org/0000-0001-9112-5148, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-6670-9157, https://orcid.org/0000-0002-9593-5508] -synonym: "Impaired use of nonverbal behaviours" EXACT layperson [https://orcid.org/0000-0001-9112-5148, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-6670-9157, https://orcid.org/0000-0002-9593-5508] +synonym: "Impaired use of nonverbal behaviours" EXACT uk_spelling [] xref: UMLS:C4021798 is_a: HP:0034434 ! Abnormal communication property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-5395-5036 @@ -9148,8 +9149,6 @@ alt_id: HP:0008195 alt_id: HP:0008206 def: "Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests." [https://orcid.org/0000-0002-0736-9199, PMID:25914878] comment: GH stimulation tests are performed with various stimuli, such as insulin, L-dopa, arginine, and growth hormone releasing hormone (GHRH). The test using insulin as a stimulus is classically recommended, but this test has potential risks such as hypoglycemia. The effects of growth hormone are mediated almost exclusively by insulin-like growth factor 1(IGF-1), which is produced primarily in the liver. Growth hormone deficiency refers to inadequate levels of GH (and therefore IGF-1), resulting in growth retardation in children and metabolic disturbances in adults. -synonym: "Growth hormone deficiency" EXACT layperson [] -synonym: "Somatotropin deficiency" EXACT [] xref: SNOMEDCT_US:2109003 xref: UMLS:C3714796 is_a: HP:0000830 ! Anterior hypopituitarism @@ -11484,6 +11483,7 @@ name: Neurofibroma alt_id: HP:0006746 alt_id: HP:0007386 alt_id: HP:0007612 +alt_id: HP:0009595 def: "A benign peripheral nerve sheath tumor that generally appears as a soft, skin-colored papule or small subcutaneous nodule. Individuals with neurofibromatosis can have numerous neurofibromas." [https://orcid.org/0000-0002-0736-9199, PMID:30969529] synonym: "multiple neurofibromas" RELATED [] synonym: "Neurofibromata" EXACT [] @@ -11640,7 +11640,7 @@ id: HP:0001084 name: Corneal arcus alt_id: HP:0100741 def: "A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years." [https://orcid.org/0000-0002-0736-9199] -comment: A grey opaque line which surrounds the margin of the cornea caused by lipid deposits. +comment: A gray opaque line which surrounds the margin of the cornea caused by lipid deposits. synonym: "Anterior embryotoxon" EXACT [] synonym: "Arcus juvenilis" RELATED [] synonym: "Arcus lipoidis" EXACT [] @@ -11859,7 +11859,7 @@ is_a: HP:0000479 ! Abnormal retinal morphology id: HP:0001103 name: Abnormal macular morphology def: "A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina." [https://orcid.org/0000-0002-0736-9199, PMID:16255686] -comment: The term macula derives from the presence of the xanthophyll pigments, lutein and zeaxanthin, in a region five to six millimetres in diameter at the posterior pole of the eye, appearing as a yellow spot (macula lutea), when viewed in red-free light. +comment: The term macula derives from the presence of the xanthophyll pigments, lutein and zeaxanthin, in a region five to six millimeters in diameter at the posterior pole of the eye, appearing as a yellow spot (macula lutea), when viewed in red-free light. subset: hposlim_core synonym: "Abnormality of the macula" EXACT [] synonym: "Macula abnormality" EXACT [] @@ -12033,7 +12033,7 @@ id: HP:0001125 name: Transient unilateral blurring of vision alt_id: HP:0000583 def: "Transient blurring of vision associated with the aura phase of migraine." [https://orcid.org/0000-0002-0736-9199] -comment: The anterior segment comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens. +comment: The anterior segment comprises the structures in front of the vitreous humor: the cornea, iris, ciliary body, and lens. synonym: "Hemianopic blurring" RELATED [] synonym: "Hemianoptic blurring of vision" EXACT [] synonym: "Transient unilateral blurred vision" EXACT [] @@ -12542,12 +12542,15 @@ is_a: HP:0006094 ! Finger joint hypermobility [Term] id: HP:0001188 name: Hand clenching -def: "An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints. In prenatal sonography of the fetal clenched hand, the index finger overlaps a clenched fist formed by the other digits. The proximal interphalangeal articulation of the index finger is flexed and ulnarly deviated, and the thumb is adducted." [https://orcid.org/0009-0006-4530-3154, PMID:10085502, PMID:16702456] +def: "An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints. In prenatal sonography of the fetal clenched hand, the index finger overlaps a clenched fist formed by the other digits. The proximal interphalangeal articulation of the index finger is flexed and ulnarly deviated, and the thumb is adducted." [https://orcid.org/0009-0006-4530-3154, PMID:10085502, PMID:16702456, PMID:27638597] comment: Hand clenching is commonly characterized by malpositioning of the fingers characterized by radial deviation of the 4th and 5th digits and ulnar deviation of the 2nd digit over the 3rd finger. Hand clenching is distinguished from Camptodactyly, as that term may describe fewer than five digits of a eudactylous hand and does not involve the MCPJ. The digits may overlap when they lie flexed in the palm. It is not necessary to specify the overlapping fingers finding separately. subset: hposlim_core synonym: "Clenched hand" EXACT [] synonym: "Clenched hands" EXACT layperson [] +synonym: "Fisted hand" EXACT [] +synonym: "Fisting" EXACT [] synonym: "Hand clenching" EXACT layperson [] +synonym: "Thumb clasp" EXACT [] xref: UMLS:C0239815 is_a: HP:0005922 ! Abnormal hand morphology @@ -12875,7 +12878,11 @@ is_a: HP:0001227 ! Abnormality of the thenar eminence id: HP:0001248 name: Short tubular bones of the hand def: "Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals." [https://orcid.org/0000-0002-0736-9199] -synonym: "Shortened short tubular bones of the hand" EXACT [] +comment: Long bones are also known as tubular bones. +synonym: "Long bone shortening of the hand" EXACT [] +synonym: "Short long bones of the hand" EXACT [] +synonym: "Shortened long tubular bones of the hand" EXACT [] +synonym: "Shortened tubular bones of the hand" EXACT [] xref: UMLS:C4025795 is_a: HP:0003026 ! Short long bone is_a: HP:0005922 ! Abnormal hand morphology @@ -12949,7 +12956,7 @@ alt_id: HP:0002479 alt_id: HP:0002794 alt_id: HP:0006997 alt_id: HP:0010520 -def: "A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain." [https://orcid.org/0000-0002-0736-9199, PMID:15816939] +def: "A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain." [https://orcid.org/0000-0002-0736-9199, PMID:15816939] comment: A type of electrographic seizure has been proposed in neonates which does not have a clinical correlate, it is electrographic only. The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold. synonym: "Epilepsy" RELATED layperson [] synonym: "Epileptic seizure" EXACT [] @@ -15014,7 +15021,7 @@ synonym: "Oculodigital phenomenon" EXACT [https://orcid.org/0000-0001-8430-6039, xref: SNOMEDCT_US:78894008 xref: UMLS:C0233593 is_a: HP:0100716 ! Self-injurious behavior -is_a: HP:5200017 ! Abnormal movements of face and head +is_a: HP:5200017 ! Steroetypic movements of face and head is_a: HP:5200065 ! Tactile sensory seeking property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 @@ -15039,7 +15046,7 @@ is_a: HP:0000508 ! Ptosis id: HP:0001489 name: Posterior vitreous detachment def: "Separation of the vitreous humor from the retina." [https://orcid.org/0000-0002-0736-9199, PMID:24376338] -comment: The vitreous humour is a transparent and colorless gel located between the retina and the lens. In posterior vitreous detachment (PVD), the vitreous membrane (which surrounds the vitreous humor) separates from the retina. This condition is common in individuals over 65 years of age but may occur in younger persons. PVD is often characterized by flashes of light and floaters, and may be complicated by retinal detachment. +comment: The vitreous humor is a transparent and colorless gel located between the retina and the lens. In posterior vitreous detachment (PVD), the vitreous membrane (which surrounds the vitreous humor) separates from the retina. This condition is common in individuals over 65 years of age but may occur in younger persons. PVD is often characterized by flashes of light and floaters, and may be complicated by retinal detachment. synonym: "Vitreous detachment" EXACT [] xref: MSH:D020255 xref: SNOMEDCT_US:247081001 @@ -17002,7 +17009,7 @@ is_a: HP:0031481 ! Abnormal mitral valve physiology id: HP:0001719 name: Double outlet right ventricle def: "Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle." [https://orcid.org/0000-0002-0736-9199, PMID:10798433] -comment: During the development of the heart, the outflow tract initially connects exclusively with the primitive right ventricle and must undergo extensive remodelling to divide into a separate pulmonary artery and aorta; subsequently, there is continued remodelling to establish direct continuity from the left ventricle to the aorta. DORV encompasses a wide spectrum of anatomic arrangements and pathophysiologic disturbances. At one end of the spectrum, it mimics tetralogy of Fallot in the presence of pulmonary stenosis, or a large ventricular septal defect (VSD) in the absence of such stenosis. At the other end of the spectrum, it behaves like transposition of the great arteries with a VSD. +comment: During the development of the heart, the outflow tract initially connects exclusively with the primitive right ventricle and must undergo extensive remodeling to divide into a separate pulmonary artery and aorta; subsequently, there is continued remodeling to establish direct continuity from the left ventricle to the aorta. DORV encompasses a wide spectrum of anatomic arrangements and pathophysiologic disturbances. At one end of the spectrum, it mimics tetralogy of Fallot in the presence of pulmonary stenosis, or a large ventricular septal defect (VSD) in the absence of such stenosis. At the other end of the spectrum, it behaves like transposition of the great arteries with a VSD. synonym: "DORV" EXACT abbreviation [] synonym: "Double-outlet right ventricle" EXACT [] xref: Fyler:600 @@ -17316,6 +17323,7 @@ synonym: "Clubfeet" EXACT layperson [] synonym: "Clubfoot" EXACT layperson [] synonym: "Equinovarus" EXACT [] synonym: "Fetal foot inversion" NARROW [] +synonym: "Foetal foot inversion" NARROW uk_spelling [] synonym: "Foot, talipes equinovarus" EXACT [] synonym: "Pes equinovarus" EXACT [] synonym: "Pes equinus" EXACT [] @@ -18327,7 +18335,8 @@ alt_id: HP:0004868 alt_id: HP:0005503 def: "A type of anemia caused by premature destruction of red blood cells (hemolysis)." [https://orcid.org/0000-0002-0736-9199] comment: Normally, erythrocytes survive on average about 110-120 days. With hemolysis, the erythrocyte survival is shortened, and generally increased marrow activity results in a reticulocyte count. -synonym: "Haemolytic anaemia" EXACT [] +synonym: "Haemolytic anaemia" EXACT uk_spelling [] +synonym: "Haemolytic anemia" EXACT [] synonym: "Hemolytic anaemia" EXACT uk_spelling [] synonym: "Increased hemolysis" EXACT [] xref: MSH:D000743 @@ -18446,7 +18455,8 @@ is_a: HP:0001972 ! Macrocytic anemia id: HP:0001890 name: Autoimmune hemolytic anemia def: "An autoimmune form of hemolytic anemia." [https://orcid.org/0000-0002-0736-9199] -synonym: "Autoimmune haemolytic anaemia" EXACT [] +synonym: "Autoimmune haemolytic anaemia" EXACT uk_spelling [] +synonym: "Autoimmune haemolytic anemia" EXACT [] synonym: "Autoimmune hemolytic anaemia" EXACT uk_spelling [] synonym: "Hemolytic anemia, autoimmune" EXACT [] xref: MSH:D000744 @@ -18545,12 +18555,19 @@ is_a: HP:0031850 ! Abnormal hematocrit [Term] id: HP:0001900 -name: Increased hemoglobin +name: Increased circulating hemoglobin concentration +alt_id: HP:0020063 +def: "Concentration of hemoglobin in the blood circulation above the upper limit of normal." [] synonym: "Increased haemoglobin" EXACT uk_spelling [] +synonym: "Increased haemoglobin concentration" EXACT uk_spelling [] synonym: "Increased Hb" EXACT abbreviation [] +synonym: "Increased Hb concentration" EXACT abbreviation [] +synonym: "Increased hemoglobin" EXACT [] +synonym: "Increased hemoglobin concentration" EXACT [] xref: SNOMEDCT_US:131141003 xref: UMLS:C0549448 is_a: HP:0001901 ! Polycythemia +is_a: HP:0020061 ! Abnormal hemoglobin concentration [Term] id: HP:0001901 @@ -18833,7 +18850,7 @@ id: HP:0001931 name: Hypochromic anemia def: "A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes." [https://orcid.org/0000-0002-0736-9199] comment: The low concentration of hemoglobin in the erythrocytes causes them to be abnormally pale, i.e., to have less color (be hypochromic). -synonym: "Hypochromic anaemia" EXACT [] +synonym: "Hypochromic anemia" EXACT [] xref: MSH:D000747 xref: SNOMEDCT_US:44452003 xref: UMLS:C0002884 @@ -20229,7 +20246,7 @@ alt_id: HP:0001306 alt_id: HP:0002407 alt_id: HP:0007252 def: "A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase." [https://orcid.org/0000-0002-0736-9199, PMID:28276060] -comment: A tonic-clonic seizure may be generalised from onset or progress from a focal seizure to a bilateral tonic clonic seizure. This term describes the observed semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding bilateral tonic-clonic seizures when the onset is not known. This form of seizure was formerly commonly called grand mal seizure. +comment: A tonic-clonic seizure may be generalized from onset or progress from a focal seizure to a bilateral tonic clonic seizure. This term describes the observed semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding bilateral tonic-clonic seizures when the onset is not known. This form of seizure was formerly commonly called grand mal seizure. synonym: "Bilateral convulsive seizures" EXACT [] synonym: "Generalised convulsion" EXACT uk_spelling [] synonym: "Generalised tonic-clonic seizure (without specification of onset)" EXACT [] @@ -20261,7 +20278,7 @@ name: Abnormality of extrapyramidal motor function alt_id: HP:0006810 alt_id: HP:0007113 def: "A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless)." [https://orcid.org/0000-0002-0736-9199] -comment: The basal ganglia, paired subcortical masses of grey matter that form distinct nuclei, subserve motor functions that are distinct from those of the pyramidal (i.e., corticospinal) tract. This is a bundled term that is kept for historical reasons, but it is preferable to annotate the precise abnormalities observed. +comment: The basal ganglia, paired subcortical masses of gray matter that form distinct nuclei, subserve motor functions that are distinct from those of the pyramidal (i.e., corticospinal) tract. This is a bundled term that is kept for historical reasons, but it is preferable to annotate the precise abnormalities observed. synonym: "Extrapyramidal dysfunction" EXACT [] synonym: "Extrapyramidal signs" EXACT [] synonym: "Extrapyramidal symptoms" EXACT [] @@ -20765,7 +20782,7 @@ id: HP:0002121 name: Generalized non-motor (absence) seizure alt_id: HP:0007143 alt_id: HP:0011148 -def: "A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features." [https://orcid.org/0000-0002-0736-9199, PMID:28276060, PMID:28276062, PMID:28276064] +def: "A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features." [https://orcid.org/0000-0002-0736-9199, PMID:28276060, PMID:28276062, PMID:28276064] comment: in 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (over 80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure. synonym: "Absence seizure" EXACT [] synonym: "Absence seizures" EXACT plural_form [] @@ -20794,7 +20811,7 @@ alt_id: HP:0007075 alt_id: HP:0007202 alt_id: HP:0007284 alt_id: HP:0007294 -def: "A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus." [HPO_CONTRIBUTOR:jalbers, PMID:28276060, PMID:28276064] +def: "A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus." [HPO_CONTRIBUTOR:jalbers, PMID:28276060, PMID:28276064] synonym: "Generalised epileptic myoclonus" EXACT [] synonym: "Generalised myoclonic seizure" EXACT [] synonym: "Generalised myoclonic seizures" EXACT uk_spelling [] @@ -20913,7 +20930,7 @@ id: HP:0002138 name: Subarachnoid hemorrhage def: "Hemorrhage occurring between the arachnoid mater and the pia mater." [https://orcid.org/0009-0006-4530-3154] comment: Bleeding into the subarachnoid space the area between the arachnoid membrane and the pia mater surrounding the brain. Subarachnoid hemorrhage may occur spontaneously, usually from a ruptured cerebral aneurysm, or may result from head injury. -synonym: "Subarachnoid haemorrhage" EXACT [] +synonym: "Subarachnoid hemorrhage" EXACT [] xref: MSH:D013345 xref: SNOMEDCT_US:21454007 xref: UMLS:C0038525 @@ -21309,7 +21326,7 @@ name: Cerebral edema def: "Abnormal accumulation of fluid in the brain." [https://orcid.org/0000-0002-0736-9199] comment: Cerebral edema refers to swelling within brain tissue due to the accumulation of fluid, and can occur as in response to almost any insulting agent. Edema canbe observed in and around regions of dead or dying brain, around metastases and abscesses, after traumatic injury, following hypoxic ischemic injury, and around primary brain tumors. There are at least five different types of edema: vasogenic, cytotoxic, hydrostatic, interstitial, and hypoosmotic. Three effects of edema are visible on imaging: (i) loss of gray-white matter differentiation; (ii) swelling of sulci (shrinking of gyri); and (iii) mass effects. On CT scanning, extensive low density may represent vasogenic edema. As the brain swells, not only do the sulci decrease, but all of the CSF spaces of the hemispheres (including the ventricles) decrease as well. Magnetic resonance tomography may show abnormalities of diffusion-weighted imaging (DWI), and Fluid attenuation inversion recovery (FLAIR) sequences. Phenotype terms involving cerebral edema thus reflect inference about the underlying processes responsible for these abnormalities on brain imaging. synonym: "Brain edema" EXACT [] -synonym: "Brain oedema" EXACT [] +synonym: "Brain oedema" EXACT uk_spelling [] synonym: "Brain swelling" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Cerebral oedema" EXACT uk_spelling [] synonym: "Swelling of brain" EXACT layperson [https://orcid.org/0000-0002-6548-5200] @@ -21461,7 +21478,7 @@ alt_id: HP:0002409 alt_id: HP:0007114 alt_id: HP:0007339 def: "A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex." [https://orcid.org/0000-0002-0736-9199, PMID:20196795, PMID:23739099, PMID:28276060, PMID:28276064, PMID:6790275] -comment: in 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (over 80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination. Classifying a seizure as having apparently generalised onset does not rule out a focal-onset obscured by limitations of our current clinical methods. +comment: in 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (over 80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination. Classifying a seizure as having apparently generalized onset does not rule out a focal-onset obscured by limitations of our current clinical methods. synonym: "Generalised onset seizure" EXACT uk_spelling [] synonym: "Generalised seizures" EXACT uk_spelling [] synonym: "Generalised-onset seizure" EXACT uk_spelling [] @@ -21672,7 +21689,7 @@ synonym: "Early greying" EXACT uk_spelling [] synonym: "Premature graying" EXACT layperson [] synonym: "Premature graying of hair" EXACT layperson [] synonym: "Premature graying of the hair" RELATED layperson [https://orcid.org/0000-0002-5316-1399] -synonym: "Premature greying" EXACT layperson [] +synonym: "Premature greying" EXACT uk_spelling [] synonym: "Premature greying of hair" EXACT uk_spelling [] synonym: "Premature greying of the hair" RELATED uk_spelling [] synonym: "Premature hair graying" EXACT layperson [] @@ -21756,7 +21773,7 @@ is_a: HP:0100840 ! Aplasia/Hypoplasia of the eyebrow [Term] id: HP:0002224 name: Woolly hair -def: "The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter." [PMID:20464096] +def: "The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter." [PMID:20464096] comment: See figures in PMID:20464096. subset: hposlim_core synonym: "Afro-textured hair" RELATED layperson [https://orcid.org/0000-0001-5889-4463] @@ -22238,7 +22255,7 @@ name: Gray matter heterotopia alt_id: HP:0002281 alt_id: HP:0007314 def: "Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter." [http://www.wikidata.org/entity/Q90573458, https://orcid.org/0000-0001-5208-3432, PMID:22427329, PMID:25180909, PMID:7524438] -comment: Gray matter heterotopia is caused by clumps of grey matter being located in the wrong part of the brain. It is characterized as a type of cortical malformation. The neurons in heterotopia may appear to be normal, except for their mislocation; nuclear studies have shown glucose metabolism equal to that of normally positioned gray matter. The condition causes a variety of symptoms, but usually includes some degree of epilepsy or recurring seizures, and often affects the brain's ability to function on higher levels. Symptoms range from nonexistent to profound, in which case heterotopia can result in severe seizure disorder, loss of motor skills, and mental retardation. Neuronal heterotopia consists of grey matter within the white matter, and the term grey matter heterotopia is more frequently used. +comment: Gray matter heterotopia is caused by clumps of gray matter being located in the wrong part of the brain. It is characterized as a type of cortical malformation. The neurons in heterotopia may appear to be normal, except for their mislocation; nuclear studies have shown glucose metabolism equal to that of normally positioned gray matter. The condition causes a variety of symptoms, but usually includes some degree of epilepsy or recurring seizures, and often affects the brain's ability to function on higher levels. Symptoms range from nonexistent to profound, in which case heterotopia can result in severe seizure disorder, loss of motor skills, and mental retardation. Neuronal heterotopia consists of gray matter within the white matter, and the term gray matter heterotopia is more frequently used. synonym: "Gray matter heterotopias" EXACT plural_form [] synonym: "Grey matter heterotopia" EXACT uk_spelling [] synonym: "Grey matter heterotopias" EXACT uk_spelling [] @@ -23468,7 +23485,7 @@ is_a: HP:0001328 ! Specific learning disability id: HP:0002444 name: Hypothalamic hamartoma def: "The presence of a hamartoma of the hypothalamus." [https://orcid.org/0000-0002-0736-9199] -comment: Hypothalamic hamartoma is a malformation, not a tumor. Hypothalamic hamartomas grow at the rate of, or slower than, the surrounding brain tissue. A hamartoma of the hypothalamus appears as a non-enhancing mass in the floor of the third ventricle posterior to the optic chiasm that is isointense to grey matter on T1 and T2 pulse sequences of an MRI, but may have distinct intensity on FLAIR (neither cranial CT examination nor cranial ultrasound examination is adequate for diagnosis of hypothalamic hamartom). Individuals with hypothalamic hamartomas may have neurologic symptoms, although most are asymptomatic. Removal of the hypothalamic hamartoma is not indicated and often results in iatrogenic pituitary insufficiency. +comment: Hypothalamic hamartoma is a malformation, not a tumor. Hypothalamic hamartomas grow at the rate of, or slower than, the surrounding brain tissue. A hamartoma of the hypothalamus appears as a non-enhancing mass in the floor of the third ventricle posterior to the optic chiasm that is isointense to gray matter on T1 and T2 pulse sequences of an MRI, but may have distinct intensity on FLAIR (neither cranial CT examination nor cranial ultrasound examination is adequate for diagnosis of hypothalamic hamartom). Individuals with hypothalamic hamartomas may have neurologic symptoms, although most are asymptomatic. Removal of the hypothalamic hamartoma is not indicated and often results in iatrogenic pituitary insufficiency. xref: MSH:C537158 xref: SNOMEDCT_US:237714006 xref: UMLS:C0342418 @@ -23668,7 +23685,7 @@ is_a: HP:0034237 ! Open neural tube defect [Term] id: HP:0002476 name: Primitive reflex -def: "The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant." [PMID:12700289] +def: "The primitive reflexes are a group of behavioral motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant." [PMID:12700289] synonym: "Archaic reflex" EXACT [] synonym: "Primitive reflexes" EXACT [] xref: UMLS:C1838319 @@ -23834,7 +23851,7 @@ id: HP:0002500 name: Abnormal cerebral white matter morphology alt_id: HP:0200100 def: "An abnormality of the cerebral white matter." [https://orcid.org/0000-0002-0736-9199] -comment: This finding can be demonstrated by magnetic resonance imaging, especially with t2 signalling. The cerebral white matter is the region of the central nervous system that consists mostly of glial cells and myelinated axons that interconnect the various regions of the cerebrum and the lower brain centers. It is located in the subcortex. +comment: This finding can be demonstrated by magnetic resonance imaging, especially with t2 signaling. The cerebral white matter is the region of the central nervous system that consists mostly of glial cells and myelinated axons that interconnect the various regions of the cerebrum and the lower brain centers. It is located in the subcortex. synonym: "Abnormality of subcortical white matter" EXACT [] synonym: "Abnormality of the cerebral white matter" EXACT [] synonym: "Cerebral white matter abnormalities" EXACT [] @@ -23910,6 +23927,7 @@ is_a: HP:0002363 ! Abnormal brainstem morphology [Term] id: HP:0002509 name: Limb hypertonia +synonym: "Appendicular hypertonia" EXACT [] synonym: "Increased muscle tone of arm or leg" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1838391 is_a: HP:0001276 ! Hypertonia @@ -25550,7 +25568,7 @@ is_a: HP:0002679 ! Abnormal sella turcica morphology id: HP:0002691 name: Platybasia def: "A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base." [https://orcid.org/0000-0002-0736-9199] -comment: Platybasia is malformation of the base of the skull due to softening of skull bones or a developmental anomaly, with bulging upwards of the floor of the posterior cranial fossa, upward displacement of the upper cervical vertebrae, and bony impingement on the brainstem. It results in abnormal obtuseness of the basal angle that can be demonstrated radiographically. If platybasia is associated with basilar invagination, compression of the brainstem and upper cervical cord can result. Basal Angle formed by: line joining the nasion with the centre of the pituitary fossa line joining the anterior border of the foramen magnum with the centre of the pituitary fossa normal: 125 degrees-143 degrees platybasia: > 143 degrees basilar kyphosis: < 125 degrees. {xref="https://orcid.org/0000-0001-5889-4463"} +comment: Platybasia is malformation of the base of the skull due to softening of skull bones or a developmental anomaly, with bulging upwards of the floor of the posterior cranial fossa, upward displacement of the upper cervical vertebrae, and bony impingement on the brainstem. It results in abnormal obtuseness of the basal angle that can be demonstrated radiographically. If platybasia is associated with basilar invagination, compression of the brainstem and upper cervical cord can result. Basal Angle formed by: line joining the nasion with the center of the pituitary fossa line joining the anterior border of the foramen magnum with the center of the pituitary fossa normal: 125 degrees-143 degrees platybasia: > 143 degrees basilar kyphosis: < 125 degrees. {xref="https://orcid.org/0000-0001-5889-4463"} subset: hposlim_core synonym: "Flattening of the skull base" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased basal angle of skull base" EXACT [https://orcid.org/0000-0001-5889-4463] @@ -26045,14 +26063,9 @@ is_a: HP:0004429 ! Recurrent viral infections [Term] id: HP:0002744 -name: Bilateral cleft lip and palate -def: "Cleft lip and cleft palate affecting both sides of the face." [https://orcid.org/0000-0002-0736-9199] -synonym: "Bilateral cleft lip and cleft palate" EXACT [] -synonym: "Right and left cleft lip and palate" EXACT layperson [https://orcid.org/0000-0001-5889-4463] -xref: SNOMEDCT_US:1085331000119107 -xref: UMLS:C1398522 -is_a: HP:0100336 ! Bilateral cleft lip -is_a: HP:0100337 ! Bilateral cleft palate +name: obsolete Bilateral cleft lip and palate +is_obsolete: true +consider: HP:0100337 [Term] id: HP:0002745 @@ -26651,10 +26664,11 @@ is_a: HP:0040069 ! Abnormal lower limb bone morphology [Term] id: HP:0002825 name: Caudal appendage -def: "The presence of a tail-like skin appendage located adjacent to the sacrum." [https://orcid.org/0000-0002-0736-9199] +def: "The presence of a tail-like skin appendage located adjacent to the sacrum." [https://orcid.org/0000-0002-0736-9199, PMID:18266249, PMID:18629881, PMID:23904413] subset: hposlim_core synonym: "Coccygeal tail" EXACT [] synonym: "Human tail" EXACT layperson [https://orcid.org/0000-0001-6908-9849] +synonym: "Sacral appendage" EXACT [] xref: UMLS:C3277117 is_a: HP:0008519 ! Abnormal coccyx morphology @@ -27749,7 +27763,8 @@ id: HP:0002945 name: Intervertebral space narrowing def: "Decreased height of the intervertebral disk." [https://orcid.org/0000-0002-0736-9199] comment: A decrease in the height of the intervertebral disks is usually observed as a narrowing of the space between the vertebrae on X-ray examination. -synonym: "Narrow intervertebral disc spaces" EXACT [] +synonym: "Narrow intervertebral disc spaces" EXACT uk_spelling [] +synonym: "Narrow intervertebral disk spaces" EXACT [] synonym: "Narrow intervertebral spaces" EXACT [] xref: SNOMEDCT_US:11301007 xref: UMLS:C0263870 @@ -27781,9 +27796,9 @@ alt_id: HP:0008471 alt_id: HP:0008485 def: "A developmental defect leading to the union of two adjacent vertebrae." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core -synonym: "Fused vertebrae" EXACT [] +synonym: "Congenital spinal fusion" EXACT [] +synonym: "Congenitally fused vertebrae" EXACT [] synonym: "Fusion of vertebral bodies" EXACT [] -synonym: "Spinal fusion" EXACT layperson [] synonym: "Vertebral body fusion" EXACT [] xref: UMLS:C1835763 xref: UMLS:C1849073 @@ -28735,7 +28750,7 @@ synonym: "Glucosuria" EXACT [] xref: MSH:D006029 xref: SNOMEDCT_US:45154002 xref: UMLS:C0017979 -is_a: HP:0033354 ! Abnormal urine metabolite level +is_a: HP:6000531 ! Abnormal urinary organic compound level [Term] id: HP:0003077 @@ -29446,7 +29461,7 @@ def: "An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the u comment: Delta-aminolevulinic acid synthesis is a rate-controlling step in heme synthesis. synonym: "Elevated urinary delta-aminolevulinic acid" EXACT layperson [] xref: UMLS:C1848702 -is_a: HP:0033354 ! Abnormal urine metabolite level +is_a: HP:6000531 ! Abnormal urinary organic compound level [Term] id: HP:0003164 @@ -29964,7 +29979,7 @@ id: HP:0003220 name: Abnormality of chromosome stability alt_id: HP:0002915 alt_id: HP:0008307 -def: "A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration." [https://orcid.org/0000-0002-0736-9199] +def: "A type of chromosomal aberration characterized by reduced resistance of chromosomes to change or deterioration." [https://orcid.org/0000-0002-0736-9199] xref: MSH:D019457 xref: UMLS:C0376628 xref: UMLS:C1859424 @@ -31177,7 +31192,7 @@ is_a: HP:0001288 ! Gait disturbance id: HP:0003378 name: Axonal degeneration/regeneration def: "A pattern of simultaneous degeneration and regeneration of axons (see comment)." [https://orcid.org/0000-0002-0736-9199] -comment: This finding is typically demonstrated by nerve biopsy. Following focal damage to an axon, the part of the axon that is distal to the lesion invariably degenerates, a process that is known as anterograde (or Wallerian) degeneration. During Wallerian degeneration, often a microenvironment is created that can allow successful regrowth of nerve fibres from the proximal nerve segment. +comment: This finding is typically demonstrated by nerve biopsy. Following focal damage to an axon, the part of the axon that is distal to the lesion invariably degenerates, a process that is known as anterograde (or Wallerian) degeneration. During Wallerian degeneration, often a microenvironment is created that can allow successful regrowth of nerve fibers from the proximal nerve segment. synonym: "Axon degeneration and regeneration" EXACT [] xref: UMLS:C1968790 is_a: HP:0000764 ! Peripheral axonal degeneration @@ -31415,7 +31430,7 @@ def: "Irregularity of the normally smooth surface of the proximal metaphysis of synonym: "Irregular proximal femoral metaphyses" EXACT [] xref: UMLS:C1836320 is_a: HP:0003366 ! Abnormal femoral neck/head morphology -is_a: HP:0006431 ! Proximal femoral metaphyseal abnormality +is_a: HP:0006431 ! Abnormal proximal femoral metaphysis morphology is_a: HP:0030291 ! Lower-limb metaphyseal irregularity [Term] @@ -31636,7 +31651,7 @@ id: HP:0003448 name: Decreased sensory nerve conduction velocity alt_id: HP:0006914 def: "Reduced speed of conduction of the action potential along a sensory nerve." [https://orcid.org/0000-0002-0736-9199] -comment: The sensory nerve action potential (SNAP) in response to electrical stimulation is recorded from the nerve itself by means of dermal recording electrodes. The SNAP is the sum of all the action potentials generated in sensory nerve fibres by the applied electrical impulse. +comment: The sensory nerve action potential (SNAP) in response to electrical stimulation is recorded from the nerve itself by means of dermal recording electrodes. The SNAP is the sum of all the action potentials generated in sensory nerve fibers by the applied electrical impulse. synonym: "Decreased sensory NCV" EXACT [] synonym: "Decreased sensory nerve conduction velocities" EXACT [] xref: UMLS:C1849148 @@ -31668,10 +31683,12 @@ is_a: HP:0011019 ! Abnormality of chromosome condensation [Term] id: HP:0003452 -name: Increased serum iron +name: Increased circulating iron concentration +def: "The concentration of iron in the blood circulation is above the upper limit of normal." [] +synonym: "Increased serum iron" EXACT [] xref: SNOMEDCT_US:165624002 xref: UMLS:C0151900 -is_a: HP:0040130 ! Abnormal serum iron concentration +is_a: HP:0040130 ! Abnormal circulating iron concentration [Term] id: HP:0003453 @@ -32133,7 +32150,7 @@ name: Hyperprostaglandinuria def: "An increased concentration of prostaglandin in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "High urine prostaglandin levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1866498 -is_a: HP:0033354 ! Abnormal urine metabolite level +is_a: HP:6000531 ! Abnormal urinary organic compound level [Term] id: HP:0003528 @@ -32353,7 +32370,7 @@ name: Muscle fiber splitting def: "Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches." [PMID:6123177] synonym: "Fiber splitting" EXACT [] synonym: "Fibre splitting" EXACT [] -synonym: "Muscle fibre splitting" EXACT [] +synonym: "Muscle fiber splitting" EXACT [] xref: UMLS:C1836057 is_a: HP:0004303 ! Abnormal muscle fiber morphology @@ -32745,9 +32762,10 @@ is_a: HP:0008887 ! Adipose tissue loss [Term] id: HP:0003637 -name: Reduced 4-Hydroxyphenylpyruvate dioxygenase level -def: "An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase level." [https://orcid.org/0000-0002-0736-9199] +name: Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity +def: "Activity or concentration of 4-hydroxyphenylpyruvate dioxygenase in the blood circulation below the lower limit of normal." [https://orcid.org/0000-0002-0736-9199] comment: Note: 4-hydroxyphenylpyruvate dioxygenase corresponds to EC 1.13.11.27. 4-Hydroxyphenylpyruvate dioxygenase participates in the tyrosine catabolic pathway by catalyzing the conversion of 4-hydroxyphenylpyruvate to homogentisate. A deficiency in this enzyme can result in 4-Hydroxyphenylacetic aciduria. +synonym: "Reduced 4-Hydroxyphenylpyruvate dioxygenase level" EXACT [] synonym: "Reducted HPPD activity" EXACT abbreviation [] xref: UMLS:C4025587 is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity @@ -32916,7 +32934,7 @@ id: HP:0003657 name: Vascular granular osmiophilic material deposition alt_id: HP:0034379 def: "Accumulation of granular osmiophilic material in blood vessel walls. Osmiophilic material becomes black upon staining with osmium tetroxide. Deposition of granular osmiophilic material (GOM) is the vascular pathological hallmark of CADASIL, which is the most prevalent hereditary small vessel disease and is caused by missense mutations in the NOTCH3 gene. GOM have been shown to contain NOTCH3 ectodomain (NOTCH3ECD) and extracellular matrix proteins, and can be visualized ultrastructurally in the tunica media of small arteries and capillaries. These electron dense GOM deposits are located in the basement membrane of mural cells, i.e. vascular smooth muscle cells and pericytes. In both manifest and pre-manifest CADASIL patients, GOM deposits are present not only in brain vessels, but also in vessels of other organs, such as the skin." [PMID:17183453, PMID:31667734] -comment: In CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy), GOM deposits can be observed located in the neighbourhood of the smooth muscle cells, often within an infolding of the cell membrane. +comment: In CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy), GOM deposits can be observed located in the neighborhood of the smooth muscle cells, often within an infolding of the cell membrane. synonym: "Granular osmiophilic deposits (GROD) in cells" EXACT [] xref: UMLS:C1859833 is_a: HP:0025015 ! Abnormal vascular morphology @@ -32987,7 +33005,7 @@ synonym: "Slow disease progression" EXACT [] synonym: "Slow progression" EXACT [] synonym: "Slowly progressive disorder" EXACT [] xref: UMLS:C1854494 -is_a: HP:0003679 ! Pace of progression +is_a: HP:0003676 ! Progressive [Term] id: HP:0003678 @@ -32998,7 +33016,7 @@ synonym: "Rapidly progressive disorder" RELATED [https://orcid.org/0000-0002-531 synonym: "Worsening quickly" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1838681 xref: UMLS:C1850776 -is_a: HP:0003679 ! Pace of progression +is_a: HP:0003676 ! Progressive [Term] id: HP:0003679 @@ -33025,7 +33043,7 @@ id: HP:0003682 name: Variable progression rate def: "Applies to a disease manifestation that quickly increases in scope or severity with a rate that varies. For instance, progression may be slow in one time period and rapid in another." [] xref: UMLS:C1970284 -is_a: HP:0003679 ! Pace of progression +is_a: HP:0003676 ! Progressive [Term] id: HP:0003683 @@ -33354,7 +33372,7 @@ is_a: HP:0002743 ! Recurrent enteroviral infections id: HP:0003730 name: EMG: myotonic runs def: "Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG)." [https://orcid.org/0000-0002-0736-9199] -comment: This is a characteristic abnormality seen in the myotonias and periodic paralyses. +comment: This is a characteristic abnormality seen in the myotonias and periodic paralyzes. synonym: "EMG: spontaneous, repetitive electrical activity" RELATED [] xref: UMLS:C4020837 xref: UMLS:C4025576 @@ -33571,7 +33589,7 @@ xref: MSH:D002012 xref: SNOMEDCT_US:191983006 xref: SNOMEDCT_US:90207007 xref: UMLS:C0006325 -is_a: HP:5200017 ! Abnormal movements of face and head +is_a: HP:5200017 ! Steroetypic movements of face and head property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153 @@ -37037,8 +37055,8 @@ creation_date: 2008-02-27T04:20:00Z [Term] id: HP:0004328 name: Abnormal anterior eye segment morphology -def: "An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens)." [https://orcid.org/0000-0002-0736-9199] -comment: The anterior segment comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens. +def: "An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humor: the cornea, iris, ciliary body, and lens)." [https://orcid.org/0000-0002-0736-9199] +comment: The anterior segment comprises the structures in front of the vitreous humor: the cornea, iris, ciliary body, and lens. synonym: "Abnormal anterior segment morphology" EXACT [] synonym: "Abnormality of the anterior segment of the eye" EXACT [] synonym: "Abnormality of the anterior segment of the eyeball" EXACT [] @@ -37816,7 +37834,7 @@ creation_date: 2008-03-18T09:13:00Z [Term] id: HP:0004398 name: Peptic ulcer -def: "The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the oesophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers." [https://orcid.org/0000-0002-0736-9199, PMID:28242110] +def: "The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the esophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers." [https://orcid.org/0000-0002-0736-9199, PMID:28242110] comment: Symptoms of peptic ulcer disease have limited predictive value because they are non-specific. Patients with duodenal ulcers typically feel hungry or have nocturnal abdominal pain. By contrast, patients with gastric ulcers have postprandial abdominal pain, nausea, vomiting, and weight loss. Patients with untreated peptic ulcer disease typically have relapsing symptoms because of spontaneous healing and relapse while the causal factor (eg, H pylori infection or NSAID use) persists. synonym: "Sore in the lining of gastrointestinal tract" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D010437 @@ -38143,8 +38161,9 @@ creation_date: 2008-03-18T09:46:00Z [Term] id: HP:0004431 -name: Complement deficiency +name: Reduced circulating complement concentration def: "An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins." [PMID:24161035] +synonym: "Complement deficiency" EXACT [] xref: SNOMEDCT_US:24743004 xref: UMLS:C0272242 is_a: HP:0005339 ! Abnormality of complement system @@ -39316,7 +39335,7 @@ synonym: "Weak frontalis muscle" EXACT [] synonym: "Weakness of forehead muscle" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1859438 is_a: HP:0010628 ! Facial palsy -is_a: HP:3000004 ! Abnormality of frontalis muscle belly +is_a: HP:3000004 ! Abnormal frontalis muscle physiology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5316-1399 [Term] @@ -40133,10 +40152,10 @@ id: HP:0004825 name: Increased hemoglobin oxygen affinity def: "An abnormal increase in the binding affinity of hemoglobin for oxygen." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased haemoglobin O2 affinity" EXACT uk_spelling [] -synonym: "Increased haemoglobin oxygen affinity" EXACT [] synonym: "Increased Hb O2 affinity" EXACT abbreviation [] synonym: "Increased Hb oxygen affinity" EXACT abbreviation [] synonym: "Increased hemoglobin O2 affinity" EXACT abbreviation [] +synonym: "Increased hemoglobin oxygen affinity" EXACT [] xref: UMLS:C4021647 is_a: HP:0020054 ! Abnormal erythrocyte physiology @@ -40334,7 +40353,7 @@ is_a: HP:0001935 ! Microcytic anemia [Term] id: HP:0004857 name: Hyperchromic macrocytic anemia -def: "A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin." [https://orcid.org/0000-0002-0736-9199] +def: "A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of hemoglobin." [https://orcid.org/0000-0002-0736-9199] synonym: "Hyperchromic macrocytic anaemia" EXACT uk_spelling [] xref: UMLS:C3854594 is_a: HP:0001972 ! Macrocytic anemia @@ -41188,6 +41207,7 @@ is_a: HP:0005930 ! Abnormal epiphysis morphology id: HP:0004991 name: Rhizomelic arm shortening def: "Disproportionate shortening of the proximal segment of the arm (i.e. the humerus)." [https://orcid.org/0000-0002-0736-9199] +comment: This term implies that the ulna and radius are not substantially shortened. xref: UMLS:C1969532 is_a: HP:0008905 ! Rhizomelia @@ -41648,7 +41668,7 @@ creation_date: 2008-03-25T05:21:00Z [Term] id: HP:0005106 name: Abnormality of the vertebral endplates -def: "Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs." [https://orcid.org/0000-0002-0736-9199] +def: "Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral disks." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025251 is_a: HP:0003312 ! Abnormal form of the vertebral bodies property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -42675,7 +42695,7 @@ def: "Hemorrhage occurring within a joint." [HPO_CONTRIBUTOR:gcarletti] synonym: "Bleeding within a joint" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hemarthroses" EXACT [] synonym: "Hemarthrosis" EXACT layperson [] -synonym: "Joint haemorrhage" EXACT [] +synonym: "Joint hemorrhage" EXACT [] synonym: "Spontaneous joint haemorrhage" EXACT uk_spelling [] synonym: "Spontaneous joint hemorrhage" EXACT [] xref: MSH:D006395 @@ -42779,7 +42799,7 @@ synonym: "Prominent laugh lines" EXACT layperson [https://orcid.org/0000-0001-58 synonym: "Prominent nasolabial groove" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent smile lines" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1866487 -is_a: HP:0005289 ! Abnormality of the nasolabial region +is_a: HP:0005289 ! Abnormal nasolabial region morphology [Term] id: HP:0005273 @@ -42923,7 +42943,8 @@ creation_date: 2008-03-26T06:04:00Z [Term] id: HP:0005289 -name: Abnormality of the nasolabial region +name: Abnormal nasolabial region morphology +synonym: "Abnormality of the nasolabial region" EXACT [] synonym: "Anomaly of the nasolabial region" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the nasolabial region" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the nasolabial region" NARROW [https://orcid.org/0000-0001-5889-4463] @@ -43433,7 +43454,7 @@ name: Decreased circulating complement factor I concentration def: "Concentration of the complement component factor I in the blood circulation below the lower limit of normal." [https://emedicine.medscape.com/article/135478-overview] synonym: "Decreased serum complement factor I" EXACT [] xref: UMLS:C1970257 -is_a: HP:0004431 ! Complement deficiency +is_a: HP:0004431 ! Reduced circulating complement concentration [Term] id: HP:0005357 @@ -43510,7 +43531,7 @@ name: Decreased circulating complement factor H concentration def: "Concentration of the complement component factor H in the blood circulation below the lower limit of normal." [https://emedicine.medscape.com/article/135478-overview] synonym: "Decreased serum complement factor H" EXACT [] xref: UMLS:C1969222 -is_a: HP:0004431 ! Complement deficiency +is_a: HP:0004431 ! Reduced circulating complement concentration [Term] id: HP:0005372 @@ -43729,7 +43750,7 @@ def: "Concentration of the complement component factor B in the blood circulatio synonym: "Decreased serum complement factor B" EXACT [] synonym: "Decreased serum factor b" EXACT [] xref: UMLS:C4021636 -is_a: HP:0004431 ! Complement deficiency +is_a: HP:0004431 ! Reduced circulating complement concentration [Term] id: HP:0005419 @@ -43763,7 +43784,7 @@ synonym: "Decreased serum C3" EXACT [] synonym: "Decreased serum complement C3" EXACT [] synonym: "Decreased serum complement C3 level" EXACT [] xref: UMLS:C1837512 -is_a: HP:0004431 ! Complement deficiency +is_a: HP:0004431 ! Reduced circulating complement concentration [Term] id: HP:0005422 @@ -44073,7 +44094,7 @@ alt_id: HP:0002702 alt_id: HP:0005454 alt_id: HP:0005471 def: "Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone)." [https://orcid.org/0000-0001-8612-1062, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-2972-5481, PMID:31173381] -comment: A hypomineralised skull castes little or no acoustic shadow on prenatal ultrasound. This makes visualisation of the intracranial anatomy clearer than normal. In conditions associated with profound hypomineralisation, the skull shape can be distorted by pressure from the ultrasound transducer later in pregnancy. +comment: A hypomineralised skull castes little or no acoustic shadow on prenatal ultrasound. This makes visualization of the intracranial anatomy clearer than normal. In conditions associated with profound hypomineralisation, the skull shape can be distorted by pressure from the ultrasound transducer later in pregnancy. synonym: "Poorly ossified calvaria" EXACT [] synonym: "Poorly ossified calvarium" EXACT [] synonym: "Skull soft on palpation" RELATED [] @@ -45605,6 +45626,7 @@ is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs id: HP:0005773 name: Short forearm def: "Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm." [https://orcid.org/0000-0002-0736-9199] +synonym: "Hypoplasia of both radius and ulna" EXACT [] synonym: "Short forearm" EXACT layperson [] xref: UMLS:C1855299 is_a: HP:0009821 ! Forearm undergrowth @@ -46132,7 +46154,9 @@ is_a: HP:0006383 ! Progressive bowing of long bones [Term] id: HP:0005892 name: Proximal tibial and fibular fusion +def: "A developmental defect characterized by the abnormal fusion of the proximal tibia and fibula." [PMID:1872166] synonym: "Fusion of innermost shinbone and calf bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] +synonym: "Proximal tibiofibular synostosis" EXACT [] xref: UMLS:C4025113 is_a: HP:0005928 ! Synostosis involving the fibula is_a: HP:0005929 ! Synostosis involving the tibia @@ -48485,14 +48509,18 @@ id: HP:0006349 name: Agenesis of permanent teeth alt_id: HP:0000681 alt_id: HP:0006287 +alt_id: HP:0008498 def: "A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth." [https://orcid.org/0000-0002-0736-9199] -synonym: "Absence of permanent teeth" EXACT [] +synonym: "Absence of adult teeth" EXACT layperson [] +synonym: "Absence of permanent teeth" EXACT layperson [] +synonym: "Absence of secondary dentition" EXACT [] synonym: "Absent permanent teeth" EXACT [] synonym: "Agenesis of permanent dentition" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Agenesis of secondary dentition" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of permanent teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of secondary teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Missing teeth" EXACT layperson [] +synonym: "No permanent dentition" EXACT [] xref: MSH:C563203 xref: SNOMEDCT_US:109444001 xref: SNOMEDCT_US:234948008 @@ -48747,7 +48775,8 @@ def: "Increased width of the distal part of the shaft (metaphysis) of the femur. synonym: "Broad outermost wide portion of thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Wide distal metaphysis of femur" EXACT [] xref: UMLS:C1849309 -is_a: HP:0030299 ! Distal femoral metaphyseal abnormality +is_a: HP:0006417 ! Wide femoral metaphysis +is_a: HP:0030299 ! Abnormal distal femoral metaphysis morphology [Term] id: HP:0006389 @@ -48880,7 +48909,9 @@ is_a: HP:0000935 ! Thickened cortex of long bones [Term] id: HP:0006417 -name: Broad femoral metaphyses +name: Wide femoral metaphysis +synonym: "Broad femoral metaphyses" EXACT plural_form [] +synonym: "Broad femoral metaphysis" EXACT [] synonym: "Broad wide portion of thigh bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1864854 is_a: HP:0006489 ! Abnormal femoral metaphysis morphology @@ -48929,9 +48960,10 @@ is_a: HP:0003367 ! Abnormal femoral neck morphology [Term] id: HP:0006431 -name: Proximal femoral metaphyseal abnormality +name: Abnormal proximal femoral metaphysis morphology def: "An anomaly of the metaphysis of the proximal femur (close to the hip)." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal wide portion of innermost thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] +synonym: "Proximal femoral metaphyseal abnormality" EXACT [] xref: UMLS:C4025047 is_a: HP:0006489 ! Abnormal femoral metaphysis morphology @@ -48985,6 +49017,8 @@ is_a: HP:0010590 ! Abnormality of the distal femoral epiphysis id: HP:0006439 name: Radioulnar dislocation alt_id: HP:0003972 +def: "A dislocation is a separation of the radius and ulna bones where they normally meet. The radioulnar joints are two locations, proximal and distal, in which the radius and ulna articulate in the forearm. Both can dislocate." [] +comment: This term refers to any kind of radioulnar joint dislocation (proximal, distal, both, or unknown). synonym: "Dislocated radioulnar joints" EXACT [] xref: UMLS:C2673394 is_a: HP:0003059 ! Abnormality of the radioulnar joints @@ -49664,7 +49698,7 @@ is_a: HP:0032973 ! Abnormal bronchoalveolar lavage fluid morphology id: HP:0006518 name: Pulmonary venous occlusion def: "Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-4546-6667, PMID:20456932, PMID:27009171] -comment: This feature can be observed by histological examination of lung tissue. The feature can be seen in pulmonary veno-occlusive disease (PVOD). PVOD is characterised by diffuse occlusion of the pulmonary veins by fibrous tissue, pulmonary venous congestion and associated complications including severe pulmonary hypertension (pHTN), non-cardiogenic pulmonary oedema, hypoxia and right-ventricular failure. Clinical presentation is typically non-specific, including dyspnoea, fatigue and cough. +comment: This feature can be observed by histological examination of lung tissue. The feature can be seen in pulmonary veno-occlusive disease (PVOD). PVOD is characterized by diffuse occlusion of the pulmonary veins by fibrous tissue, pulmonary venous congestion and associated complications including severe pulmonary hypertension (pHTN), non-cardiogenic pulmonary edema, hypoxia and right-ventricular failure. Clinical presentation is typically non-specific, including dyspnea, fatigue and cough. synonym: "Pulmonary venoocclusive disease" RELATED [] synonym: "Pulmonary venous stenosis" EXACT [] xref: Fyler:3002 @@ -53341,7 +53375,7 @@ is_a: HP:0003202 ! Skeletal muscle atrophy [Term] id: HP:0007270 name: Atypical absence seizure -def: "An atypical absence seizure is a type of generalised non-motor (absence) seizure characterised by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity." [https://orcid.org/0000-0002-0736-9199, PMID:28276060, PMID:28276062, PMID:28276064, PMID:6790275] +def: "An atypical absence seizure is a type of generalized non-motor (absence) seizure characterized by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity." [https://orcid.org/0000-0002-0736-9199, PMID:28276060, PMID:28276062, PMID:28276064, PMID:6790275] comment: in 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (over 80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure. synonym: "Atypical absence" EXACT [] synonym: "Atypical absence seizures" EXACT plural_form [] @@ -53607,7 +53641,7 @@ name: Bilateral tonic-clonic seizure with focal onset alt_id: HP:0002602 def: "A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase." [https://orcid.org/0000-0002-0736-9199, PMID:28276060, PMID:28276064] comment: The ILAE 2017 classification refers to this seizure type as a focal to bilateral tonic-clonic seizure. Previously it has been known as a secondarily generalized tonic-clonic seizure. The focal features of the seizure may be clinically manifest or alternatively, the spread in brain networks may be so rapid that no preceding focal symptom or sign is identified with demonstration of the focal onset resting on investigations. Note that not all instances of a Bilateral tonic-clonic seizure with focal onset will be a Focal motor seizure, some will be a Focal non-motor seizure, thus one can only say that there is a Focal-onset. -synonym: "Focal seizure with secondary generalisation" EXACT [] +synonym: "Focal seizure with secondary generalisation" EXACT uk_spelling [] synonym: "Focal seizure with secondary generalization" EXACT [] synonym: "Focal to bilateral tonic-clonic seizure" EXACT [] synonym: "Generalised tonic-clonic seizure with focal onset" EXACT [] @@ -53616,13 +53650,14 @@ synonym: "Generalised tonic-clonic seizures with focal onset" EXACT uk_spelling synonym: "Generalized tonic-clonic seizure with focal onset" EXACT [] synonym: "Generalized tonic-clonic seizure with partial onset" EXACT [] synonym: "Generalized tonic-clonic seizures with focal onset" EXACT plural_form [] -synonym: "Partial seizure with secondary generalisation" EXACT [] +synonym: "Partial seizure with secondary generalisation" EXACT uk_spelling [] synonym: "Partial seizure with secondary generalization" EXACT [] synonym: "Partial seizures with secondary generalisation" EXACT uk_spelling [] synonym: "Partial seizures with secondary generalization" EXACT [] -synonym: "Secondarily generalised tonic-clonic seizure" EXACT [] -synonym: "Secondarily generalised tonic-clonic seizures" EXACT [] +synonym: "Secondarily generalised tonic-clonic seizure" EXACT uk_spelling [] +synonym: "Secondarily generalised tonic-clonic seizures" EXACT uk_spelling [] synonym: "Secondarily generalized tonic-clonic seizure" EXACT [] +synonym: "Secondarily generalized tonic-clonic seizures" EXACT [] synonym: "Secondary generalised tonic clonic seizures" EXACT uk_spelling [] synonym: "Secondary generalised tonic-clonic seizures" EXACT uk_spelling [] synonym: "Secondary generalized tonic clonic seizures" EXACT [] @@ -54197,7 +54232,7 @@ is_a: HP:0001034 ! Hypermelanotic macule [Term] id: HP:0007413 name: Nevus flammeus of the forehead -def: "Naevus flammeus localised in the skin of the forehead." [https://orcid.org/0009-0006-4530-3154] +def: "Naevus flammeus localized in the skin of the forehead." [https://orcid.org/0009-0006-4530-3154] synonym: "Port-wine stain on forehead" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1848850 is_a: HP:0001052 ! Nevus flammeus @@ -55310,7 +55345,7 @@ is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0007616 name: Nevus flammeus nuchae -def: "Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns." [https://orcid.org/0009-0006-4530-3154] +def: "Naevus flammeus localized in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns." [https://orcid.org/0009-0006-4530-3154] comment: The salmon patch is the most common capillary malformation, occurring in up to 50% of all neonates. It is a pinkish macule that typically affects the back of the neck (stork bite) or the glabella (angel's kiss), although it can affect the eyelids, the nose, the upper lip, and the sacral area. synonym: "Angel's kiss" RELATED layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Port-wine stain on neck" EXACT layperson [https://orcid.org/0000-0001-5208-3432] @@ -55448,8 +55483,8 @@ is_a: HP:0000568 ! Microphthalmia [Term] id: HP:0007634 name: Nonarteritic anterior ischemic optic neuropathy -def: "An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates." [https://orcid.org/0000-0002-0736-9199, PMID:17698200] -comment: Nonarteritic anterior ischemic optic neuropathy is caused by infarction of the laminar or retrolaminar portion of the optic nerve head supplied by the short posterior ciliary arteries. Clinically NAION is characterized by sudden, usually painless, loss of vision in one or both eyes. Examination findings include decreased visual acuity, a visual field defect, decreased colour vision, a relative afferent pupillary defect, and optic disc swelling. +def: "An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disk or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates." [https://orcid.org/0000-0002-0736-9199, PMID:17698200] +comment: Nonarteritic anterior ischemic optic neuropathy is caused by infarction of the laminar or retrolaminar portion of the optic nerve head supplied by the short posterior ciliary arteries. Clinically NAION is characterized by sudden, usually painless, loss of vision in one or both eyes. Examination findings include decreased visual acuity, a visual field defect, decreased color vision, a relative afferent pupillary defect, and optic disc swelling. synonym: "Nonarteritic anterior ischaemic optic neuropathy" EXACT uk_spelling [] xref: UMLS:C1852242 is_a: HP:0001138 ! Optic neuropathy @@ -56156,7 +56191,6 @@ alt_id: HP:0007794 alt_id: HP:0007890 def: "Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic optic discs" EXACT uk_spelling [] -synonym: "Hypoplastic optic disks" EXACT [] xref: SNOMEDCT_US:373650004 xref: UMLS:C1298695 is_a: HP:0008058 ! Aplasia/Hypoplasia of the optic nerve @@ -56205,7 +56239,7 @@ is_a: HP:0000617 ! Abnormality of ocular smooth pursuit id: HP:0007773 name: Vitreoretinopathy alt_id: HP:0000655 -def: "Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123, PMID:18179896] +def: "Ocular abnormality characterized by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123, PMID:18179896] synonym: "Vitreoretinal abnormality" EXACT [] synonym: "Vitreoretinal degeneration" EXACT [] xref: UMLS:C1850109 @@ -56372,7 +56406,7 @@ id: HP:0007803 name: Monochromacy alt_id: HP:0007954 def: "Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray." [https://orcid.org/0000-0001-8727-6592] -comment: Rod monochromacy is the condition of having only rods in the retina. A rod monochromat is truly unable to see any color and can see only shades of grey. +comment: Rod monochromacy is the condition of having only rods in the retina. A rod monochromat is truly unable to see any color and can see only shades of gray. synonym: "Complete achromatopsia" EXACT [] synonym: "Total colorblindness" RELATED layperson [https://orcid.org/0000-0002-5316-1399] xref: MSH:C536128 @@ -56819,7 +56853,7 @@ alt_id: HP:0001111 alt_id: HP:0001487 alt_id: HP:0007746 alt_id: HP:0007752 -def: "Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid)." [https://orcid.org/0000-0003-0986-4123] +def: "Reduced pigmentation of the fundus, typically generalized. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid)." [https://orcid.org/0000-0003-0986-4123] synonym: "Decreased fundus pigmentation" EXACT [] synonym: "Fundus hypopigmentation" EXACT [] xref: SNOMEDCT_US:95694000 @@ -57210,7 +57244,7 @@ is_a: HP:0000649 ! Abnormality of visual evoked potentials [Term] id: HP:0007968 name: Remnants of the hyaloid vascular system -def: "Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract." [https://orcid.org/0000-0002-0736-9199] +def: "Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Congenital retinal septum" EXACT [] synonym: "Persistent fetal vasculature" EXACT [https://orcid.org/0000-0001-6908-9849] @@ -59302,7 +59336,7 @@ def: "A partial reduction in level of the complement component Factor D in circu synonym: "Partial functional adipsin deficiency" EXACT [https://en.wikipedia.org/wiki/Factor_D, https://orcid.org/0000-0001-6908-9849] synonym: "Partial functional factor d deficiency" EXACT [https://en.wikipedia.org/wiki/factor_d, https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4024699 -is_a: HP:0004431 ! Complement deficiency +is_a: HP:0004431 ! Reduced circulating complement concentration [Term] id: HP:0008339 @@ -59649,6 +59683,7 @@ is_a: HP:0002164 ! Nail dysplasia id: HP:0008396 name: Chronic monilial nail infection def: "Chronic infection of the nails by Candida species." [https://orcid.org/0000-0002-0736-9199] +synonym: "Fungal infection of the nail" EXACT [] xref: UMLS:C4024683 is_a: HP:0001597 ! Abnormality of the nail @@ -59764,11 +59799,12 @@ is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0008419 -name: Intervertebral disc degeneration +name: Intervertebral disk degeneration def: "The presence of degenerative changes of intervertebral disk." [https://orcid.org/0000-0002-0736-9199] synonym: "Degeneration of intervertebral discs" EXACT uk_spelling [] synonym: "Degeneration of intervertebral disks" EXACT [] -synonym: "Degenerative disc disease" EXACT [https://orcid.org/0000-0001-6908-9849] +synonym: "Degenerative disc disease" EXACT uk_spelling [] +synonym: "Degenerative disk disease" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Degenerative intervertebral disc" EXACT uk_spelling [] synonym: "Degenerative intervertebral disk" EXACT [] xref: MSH:D055959 @@ -60289,14 +60325,9 @@ is_a: HP:0004439 ! Craniofacial dysostosis [Term] id: HP:0008498 -name: No permanent dentition -synonym: "Absence of adult teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] -synonym: "Absence of secondary dentition" EXACT [https://orcid.org/0000-0001-5889-4463] -synonym: "Missing adult teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] -synonym: "No adult dentition" EXACT [https://orcid.org/0000-0001-5889-4463] -synonym: "No secondary dentition" EXACT [https://orcid.org/0000-0001-5889-4463] -xref: UMLS:C4024666 -is_a: HP:0000696 ! Delayed eruption of permanent teeth +name: obsolete No permanent dentition +is_obsolete: true +replaced_by: HP:0006349 [Term] id: HP:0008499 @@ -60311,16 +60342,9 @@ is_a: HP:0000540 ! Hypermetropia [Term] id: HP:0008501 -name: Median cleft lip and palate -alt_id: HP:0009089 -def: "Cleft lip or palate affecting the midline region of the palate." [https://orcid.org/0009-0006-4530-3154] -synonym: "Central cleft lip and palate" EXACT layperson [https://orcid.org/0000-0001-5889-4463] -synonym: "Medial cleft lip and palate" EXACT [] -synonym: "Midline cleft lip/palate" EXACT layperson [] -synonym: "Wide midline cleft lip/palate" EXACT [] -xref: UMLS:C2750604 -is_a: HP:0000161 ! Median cleft upper lip -is_a: HP:0009099 ! Median cleft palate +name: obsolete Median cleft lip and palate +is_obsolete: true +replaced_by: HP:0009099 [Term] id: HP:0008504 @@ -60823,9 +60847,11 @@ is_a: HP:0000812 ! Abnormal internal genitalia [Term] id: HP:0008635 -name: Hypertrophy of the urinary bladder -def: "Abnormal enlargement of the urinary bladder." [https://orcid.org/0000-0002-0736-9199] +name: Urinary bladder wall hypertrophy +def: "Increase in thickness of the wall of the urinary bladder. This finding may be seen in conditions such as bladder outlet obstruction and may be accompanied by increased trabeculation of the bladder wall musculature." [https://orcid.org/0000-0002-0736-9199, PMID:11002301] synonym: "Hypertrophic urinary bladder" EXACT [] +synonym: "Hypertrophy of the urinary bladder wall" EXACT [] +synonym: "Urinary bladder wall thickening" EXACT [] xref: UMLS:C4021531 is_a: HP:0025487 ! Abnormal bladder morphology @@ -61521,7 +61547,7 @@ name: Repetitive compulsive behavior synonym: "Repetitive compulsive behavior" EXACT layperson [] synonym: "Repetitive compulsive behaviour" EXACT uk_spelling [] xref: UMLS:C1969697 -is_a: HP:0000733 ! Abnormal repetitive mannerisms +is_a: HP:0031432 ! Restricted or repetitive behaviors or interests [Term] id: HP:0008763 @@ -61696,8 +61722,8 @@ alt_id: HP:0008790 def: "Increased width of the proximal part of the shaft (metaphysis) of the femur." [https://orcid.org/0000-0002-0736-9199] synonym: "Wide metaphysis of innermost thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024623 -is_a: HP:0006417 ! Broad femoral metaphyses -is_a: HP:0006431 ! Proximal femoral metaphyseal abnormality +is_a: HP:0006417 ! Wide femoral metaphysis +is_a: HP:0006431 ! Abnormal proximal femoral metaphysis morphology [Term] id: HP:0008784 @@ -63071,6 +63097,8 @@ is_a: HP:0002728 ! Chronic mucocutaneous candidiasis [Term] id: HP:0009099 name: Median cleft palate +alt_id: HP:0008501 +alt_id: HP:0009089 def: "Cleft palate of the midline of the palate." [https://orcid.org/0000-0002-0736-9199] synonym: "Central cleft palate" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Midline cleft palate" EXACT layperson [] @@ -63840,7 +63868,7 @@ def: "A triangular appearance of the epiphyses of the metacarpals. Thess epiphys synonym: "Triangular end part of the long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4024558 is_a: HP:0005913 ! Abnormal metacarpal epiphysis morphology -is_a: HP:0010587 ! Triangular epiphyses +is_a: HP:0010587 ! Triangular epiphysis property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2008-12-30T02:03:34Z @@ -68823,11 +68851,10 @@ creation_date: 2009-01-28T10:58:47Z [Term] id: HP:0009595 -name: Occasional neurofibromas -def: "Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1." [https://orcid.org/0000-0002-0736-9199] -xref: UMLS:C3810474 -is_a: HP:0001067 ! Neurofibroma +name: obsolete Occasional neurofibromas property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 +is_obsolete: true +replaced_by: HP:0001067 creation_date: 2009-01-28T11:12:19Z [Term] @@ -70348,7 +70375,7 @@ creation_date: 2009-01-31T10:41:48Z [Term] id: HP:0009727 name: Achromatic retinal patches -def: "Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina." [https://orcid.org/0000-0002-0736-9199, PMID:11264130] +def: "Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disk diameter in size and tending to be located in the midperiphery of the retina." [https://orcid.org/0000-0002-0736-9199, PMID:11264130] synonym: "Punched out areas of chorioretinal hypopigmentation" EXACT [] xref: UMLS:C1860710 is_a: HP:0007894 ! Hypopigmentation of the fundus @@ -72542,8 +72569,8 @@ creation_date: 2009-05-02T06:32:41Z [Term] id: HP:0009922 -name: Vascular remnant arising from the disc -def: "Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth." [https://orcid.org/0000-0002-0736-9199, PMID:23772130] +name: Vascular remnant arising from the disk +def: "Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth." [https://orcid.org/0000-0002-0736-9199, PMID:23772130] synonym: "Persistence of the hyaloid artery" EXACT [] synonym: "Persistent hyaloid artery" EXACT [] xref: UMLS:C4024160 @@ -75521,7 +75548,7 @@ name: Triangular epiphyses of the toes synonym: "Triangular end part of the toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023988 is_a: HP:0010160 ! Abnormal toe epiphysis morphology -is_a: HP:0010587 ! Triangular epiphyses +is_a: HP:0010587 ! Triangular epiphysis property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:34:06Z @@ -76032,7 +76059,7 @@ creation_date: 2009-07-02T04:10:28Z [Term] id: HP:0010223 name: Pseudoepiphysis of the 3rd metacarpal -def: "The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present." [https://orcid.org/0000-0002-0736-9199] +def: "The normal epiphysis of the third metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023961 is_a: HP:0010222 ! Abnormality of the epiphysis of the 3rd metacarpal property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 @@ -76051,7 +76078,7 @@ creation_date: 2009-07-02T04:11:46Z [Term] id: HP:0010225 name: Pseudoepiphysis of the 4th metacarpal -def: "The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present." [https://orcid.org/0000-0002-0736-9199] +def: "The normal epiphysis of the fourth metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023959 is_a: HP:0010224 ! Abnormality of the epiphysis of the 4th metacarpal property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 @@ -76072,7 +76099,7 @@ creation_date: 2009-07-02T04:13:00Z [Term] id: HP:0010227 name: Pseudoepiphysis of the 5th metacarpal -def: "The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present." [https://orcid.org/0000-0002-0736-9199] +def: "The normal epiphysis of the fifth metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023957 is_a: HP:0010226 ! Abnormality of the epiphysis of the 5th metacarpal property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 @@ -76232,7 +76259,7 @@ synonym: "Triangular end part of finger bones" EXACT layperson [https://orcid.or synonym: "Triangular epiphyses of the fingers" EXACT [] xref: UMLS:C4021303 is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand -is_a: HP:0010587 ! Triangular epiphyses +is_a: HP:0010587 ! Triangular epiphysis property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T03:31:52Z @@ -80190,8 +80217,11 @@ creation_date: 2009-10-22T02:53:19Z [Term] id: HP:0010587 -name: Triangular epiphyses +name: Triangular epiphysis +def: "Longitudinal epiphyseal bracket or bracket epiphysis is an uncommon disorder of growth. Alternatively known as a delta phalanx, it is due to an anomalous secondary ossification center that extends longitudinally along the diaphysis. Although rare, longitudinal epiphyseal bracket most commonly manifests in the hands as clinodactyly and in the feet as hallux varus." [PMID:24432108] +synonym: "Longitudinal epiphyseal bracket" EXACT [] synonym: "Triangular end part of bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] +synonym: "Triangular epiphyses" EXACT plural_form [] xref: UMLS:C4023784 is_a: HP:0005930 ! Abnormal epiphysis morphology property_value: http://purl.org/dc/elements/1.1/creator "sandra1" xsd:string @@ -80346,7 +80376,7 @@ creation_date: 2009-10-25T09:56:24Z [Term] id: HP:0010603 name: Odontogenic keratocysts of the jaw -def: "A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour." [https://orcid.org/0000-0002-0736-9199, PMID:18353202] +def: "A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behavior." [https://orcid.org/0000-0002-0736-9199, PMID:18353202] comment: Keratocystic odontogenic tumor (KCOT) most commonly affects the mandible, but may also be localized in the maxilla. synonym: "Keratocystic odontogenic tumor" EXACT [] synonym: "Keratocystic odontogenic tumour" EXACT uk_spelling [] @@ -80801,10 +80831,11 @@ creation_date: 2009-12-11T03:47:19Z [Term] id: HP:0010640 -name: Abnormality of the nasal cavity +name: Abnormal nasal cavity morphology def: "Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures)." [https://orcid.org/0000-0002-0736-9199] +synonym: "Abnormality of the nasal cavity" EXACT [] xref: UMLS:C4023763 -is_a: HP:0000366 ! Abnormality of the nose +is_a: HP:0005105 ! Abnormal nasal morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-12-17T04:56:17Z @@ -80813,7 +80844,7 @@ id: HP:0010641 name: Abnormality of the midnasal cavity def: "Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4021861 -is_a: HP:0010640 ! Abnormality of the nasal cavity +is_a: HP:0010640 ! Abnormal nasal cavity morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-12-17T04:58:21Z @@ -81352,7 +81383,7 @@ creation_date: 2010-03-05T11:13:28Z id: HP:0010689 name: Mirror image polydactyly def: "A hand or foot with more than five digits that has a recognizable A/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand/foot typically resemble fifth fingers/toes." [https://orcid.org/0009-0006-4530-3154, PMID:19125433] -comment: Transplantation of the ZPA (zone of polarised activity) to the anterior margin of a limb bud in the chick results in mirror image duplication of limb elements (Tabin, 1991). Similarly, mirror image duplication in the forelimb of the mouse has been observed with ectopic expression of Hox b-8 (Charit6 et al, 1994). Mirror hand anomaly in humans has been shown to be due to either aberrant positioning of the ZPA or altered inductive interactions of the Shh gene resulting in impairment of the mechanism responsible for the organization and differentiation of the limb bud, rather than a primary duplication event. In other words, the primary event results in failure of the radial ray to develop. The ulnar area will then induce the differentiation of two groups of ulnar rays. Timing of this insult could play a critical role in severity of this phenotypic feature. Syndromal mirror hand is probably due to agene mutation of the Shh gene (Hersh et al, 1995). Finally, the multiple hand deformity may be explained by true duplication of the ZPA. +comment: Transplantation of the ZPA (zone of polarized activity) to the anterior margin of a limb bud in the chick results in mirror image duplication of limb elements (Tabin, 1991). Similarly, mirror image duplication in the forelimb of the mouse has been observed with ectopic expression of Hox b-8 (Charit6 et al, 1994). Mirror hand anomaly in humans has been shown to be due to either aberrant positioning of the ZPA or altered inductive interactions of the Shh gene resulting in impairment of the mechanism responsible for the organization and differentiation of the limb bud, rather than a primary duplication event. In other words, the primary event results in failure of the radial ray to develop. The ulnar area will then induce the differentiation of two groups of ulnar rays. Timing of this insult could play a critical role in severity of this phenotypic feature. Syndromal mirror hand is probably due to agene mutation of the Shh gene (Hersh et al, 1995). Finally, the multiple hand deformity may be explained by true duplication of the ZPA. synonym: "Mirror image duplication of digits" EXACT [] xref: MSH:C535689 xref: SNOMEDCT_US:715440003 @@ -81831,7 +81862,7 @@ creation_date: 2010-04-21T05:11:04Z [Term] id: HP:0010733 name: Naevus flammeus of the eyelid -def: "Naevus flammeus localised in the skin of the eyelid." [https://orcid.org/0009-0006-4530-3154] +def: "Naevus flammeus localized in the skin of the eyelid." [https://orcid.org/0009-0006-4530-3154] synonym: "Port-wine stain on eyelid" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1854409 is_a: HP:0001052 ! Nevus flammeus @@ -82693,7 +82724,7 @@ synonym: "Nasolabial crease, underdeveloped" EXACT [] synonym: "Nasolabial fold, hypoplastic" EXACT [] synonym: "Shallow nasolabial fold" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4021227 -is_a: HP:0005289 ! Abnormality of the nasolabial region +is_a: HP:0005289 ! Abnormal nasolabial region morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-06-26T02:10:51Z @@ -82918,7 +82949,7 @@ creation_date: 2010-07-10T12:07:03Z id: HP:0010816 name: Epidermal nevus def: "Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood." [https://orcid.org/0000-0002-0736-9199, PMID:20542174] -comment: Epidermal nevus arises from a defect in the ectoderm and in general are due to an overgrowth of keratinocytes. Subclasses of epidermal nevus include Linear epidermal naevus, epidermolytic epidermal naevus, acantholytic epidermal naevus, linear porokeratosis, and systematised epidermal naevus. Several other conditions are also characterised by benign overgrowth of the epidermis and its appendages (organoid naevi), including inflammatory linear verrucous epidermal naevus, sebaceous naevus, sweat gland naevi, comedone naevus, and Becker naevus. +comment: Epidermal nevus arises from a defect in the ectoderm and in general are due to an overgrowth of keratinocytes. Subclasses of epidermal nevus include Linear epidermal naevus, epidermolytic epidermal naevus, acantholytic epidermal naevus, linear porokeratosis, and systematized epidermal naevus. Several other conditions are also characterized by benign overgrowth of the epidermis and its appendages (organoid naevi), including inflammatory linear verrucous epidermal naevus, sebaceous naevus, sweat gland naevi, comedone naevus, and Becker naevus. synonym: "Epidermal nevi" RELATED [] xref: MSH:C580062 xref: SNOMEDCT_US:239107007 @@ -82945,7 +82976,7 @@ creation_date: 2010-07-10T12:17:17Z id: HP:0010818 name: Generalized tonic seizure alt_id: HP:0002184 -def: "A generalized tonic seizure is a type of generalized motor seizure characterised by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities." [HPO_CONTRIBUTOR:jalbers, https://orcid.org/0000-0002-0736-9199, PMID:11580774, PMID:28276060, PMID:28276064] +def: "A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities." [HPO_CONTRIBUTOR:jalbers, https://orcid.org/0000-0002-0736-9199, PMID:11580774, PMID:28276060, PMID:28276064] comment: Characterized by a sudden increase in muscle tone whereby the body, arms, or legs make sudden stiffening movements and consciousness is usually preserved. Tonic seizures can occur during sleep. Tonic seizures usually affect both sides of the body, and cause a fall if the affected person was standing when the seizure started. synonym: "Generalised hypertonic seizure" EXACT [] synonym: "Generalised tonic seizure" EXACT uk_spelling [] @@ -83226,7 +83257,7 @@ id: HP:0010843 name: EEG with focal slow activity def: "Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy)." [https://orcid.org/0000-0002-0736-9199] synonym: "EEG: focal slow activity" EXACT [] -synonym: "EEG: localised slow activity" EXACT [] +synonym: "EEG: localised slow activity" EXACT uk_spelling [] synonym: "EEG: localized slow activity" EXACT [] xref: UMLS:C4021218 is_a: HP:0011203 ! EEG with abnormally slow frequencies @@ -83248,7 +83279,7 @@ name: EEG with generalized slow activity def: "Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [https://orcid.org/0000-0002-0736-9199] comment: Generalized slow activity in the EEG typically signifies serious dysfunction of the entire brain. synonym: "EEG with generalised slow activity" EXACT uk_spelling [] -synonym: "EEG: generalised slow activity" EXACT [] +synonym: "EEG: generalised slow activity" EXACT uk_spelling [] synonym: "EEG: generalized slow activity" EXACT [] xref: UMLS:C4021217 is_a: HP:0011203 ! EEG with abnormally slow frequencies @@ -83343,7 +83374,8 @@ id: HP:0010854 name: EEG with generalized low amplitude activity def: "An abnormal generalized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [https://orcid.org/0000-0002-0736-9199] synonym: "EEG with generalised low amplitude activity" EXACT uk_spelling [] -synonym: "EEG: generalised low amplitude activity" EXACT [] +synonym: "EEG: generalised low amplitude activity" EXACT uk_spelling [] +synonym: "EEG: generalized low amplitude activity" EXACT [] xref: UMLS:C4021214 is_a: HP:0011201 ! EEG with changes in voltage property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -83354,7 +83386,8 @@ id: HP:0010855 name: EEG with localized low amplitude activity def: "An abnormal localized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [https://orcid.org/0000-0002-0736-9199] synonym: "EEG with localised low amplitude activity" EXACT uk_spelling [] -synonym: "EEG: localised low amplitude activity" EXACT [] +synonym: "EEG: localised low amplitude activity" EXACT uk_spelling [] +synonym: "EEG: localized low amplitude activity" EXACT [] xref: UMLS:C4021213 is_a: HP:0011201 ! EEG with changes in voltage property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -85342,7 +85375,7 @@ creation_date: 2011-03-05T10:06:29Z id: HP:0011034 name: Amyloidosis def: "The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body." [https://orcid.org/0000-0002-0736-9199, PMID:21039326] -comment: The medical literautre on amyloidosis is confused with clinical and histochemical designations used when the amyloid disease processes were poorly understood. To be designated an amyloid fibril protein, the protein must occur in tissue deposits and exhibit affinity for Congo red and green birefringence when viewed by polarisation microscopy. +comment: The medical literautre on amyloidosis is confused with clinical and histochemical designations used when the amyloid disease processes were poorly understood. To be designated an amyloid fibril protein, the protein must occur in tissue deposits and exhibit affinity for Congo red and green birefringence when viewed by polarization microscopy. synonym: "Amyloid disease" EXACT [https://orcid.org/0000-0001-6908-9849] xref: MSH:D000686 xref: SNOMEDCT_US:17602002 @@ -86471,8 +86504,9 @@ creation_date: 2011-06-12T08:58:47Z [Term] id: HP:0011112 -name: Abnormality of serum cytokine level +name: Abnormal circulating cytokine concentration def: "Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells." [https://orcid.org/0000-0002-0736-9199] +synonym: "Abnormality of serum cytokine level" EXACT [] xref: MP:0010210 xref: UMLS:C4023535 is_a: HP:0011111 ! Abnormal immune serum protein physiology @@ -86500,29 +86534,37 @@ creation_date: 2011-06-12T09:12:15Z [Term] id: HP:0011115 -name: Abnormality of chemokine secretion +name: Abnormal circulating chemokine concentration def: "An abnormality in the production or cellular release of a chemokine (a class of cytokines)." [] +synonym: "Abnormality of chemokine secretion" EXACT [] xref: UMLS:C4023532 -is_a: HP:0011113 ! Abnormality of cytokine secretion +is_a: HP:0011112 ! Abnormal circulating cytokine concentration property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-12T09:14:25Z [Term] id: HP:0011116 -name: Abnormality of interferon secretion -def: "An abnormality in the production or cellular release of interferons (a class of cytokines)." [] +name: Abnormal circulating interferon concentration +alt_id: HP:0030354 +def: "The concentration of an interferon is outside the limits of normal." [] +synonym: "Abnormal serum interferon level" EXACT [] +synonym: "Abnormality of interferon secretion" EXACT [] xref: UMLS:C4023531 -is_a: HP:0011113 ! Abnormality of cytokine secretion +is_a: HP:0011112 ! Abnormal circulating cytokine concentration property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-12T09:14:43Z [Term] id: HP:0011117 -name: Abnormality of interleukin secretion -def: "An abnormality in the production or cellular release of interleukins (a class of cytokines)." [] +name: Abnormal circulating interleukin concentration +alt_id: HP:0030782 +def: "The concentration of an interleukin (a class of cytokines) is outside the limits of normal." [PMID:28487810] +synonym: "Abnormal serum IL level" EXACT abbreviation [] +synonym: "Abnormal serum interleukin level" EXACT [] synonym: "Abnormality of IL secretion" EXACT abbreviation [] +synonym: "Abnormality of interleukin secretion" EXACT [] xref: UMLS:C4023530 -is_a: HP:0011113 ! Abnormality of cytokine secretion +is_a: HP:0011112 ! Abnormal circulating cytokine concentration property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-12T09:16:10Z @@ -86726,7 +86768,7 @@ id: HP:0011133 name: Increased sensitivity to ionizing radiation def: "An abnormally increased sensitivity to the effects of ionizing radiation." [https://orcid.org/0000-0002-0736-9199] comment: Ionizing radiation can lead to the production of free radicals, break chemical bonds, and damage DNA; RNA, and proteins. Cellular damage related to low doses such as that received from normal background radiation is rapidly repaired under normal conditions. -synonym: "Increased sensitivity to ionising radiation" EXACT [https://orcid.org/0000-0001-6908-9849] +synonym: "Increased sensitivity to ionizing radiation" EXACT [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4021850 is_a: HP:0011017 ! Abnormal cellular physiology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -86815,7 +86857,7 @@ creation_date: 2011-06-25T09:02:50Z id: HP:0011141 name: Age-related cataract def: "A type of cataract (opacification of the lens) that forms during the course of aging." [https://orcid.org/0000-0002-0736-9199, PMID:15708105] -comment: The lens is formed from ectodermal tissue and contains epithelial cells that give rise to lens fibres throughout life, so with increasing age the lens becomes more compact and thicker. +comment: The lens is formed from ectodermal tissue and contains epithelial cells that give rise to lens fibers throughout life, so with increasing age the lens becomes more compact and thicker. synonym: "Clouding of the lens of the eye with age" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:39450006 xref: UMLS:C0036646 @@ -86827,7 +86869,7 @@ creation_date: 2011-06-27T09:41:38Z id: HP:0011142 name: Age-related nuclear cataract def: "A type of age-related cataract that primarily affects the nucleus of the lens." [https://orcid.org/0000-0002-0736-9199, PMID:15708105] -comment: As the lens ages, new layers of fibres are added and the lens nucleus is compressed and becomes harder (nuclear sclerosis cataract), with associated yellowing of the lens. Nuclear sclerosis typically progresses slowly. +comment: As the lens ages, new layers of fibers are added and the lens nucleus is compressed and becomes harder (nuclear sclerosis cataract), with associated yellowing of the lens. Nuclear sclerosis typically progresses slowly. xref: MSH:C563333 xref: UMLS:C1832423 is_a: HP:0011141 ! Age-related cataract @@ -86838,7 +86880,7 @@ creation_date: 2011-06-27T09:49:20Z id: HP:0011143 name: Age-related cortical cataract def: "A type of age-related cataract that primarily affects the cortex of the lens." [https://orcid.org/0000-0002-0736-9199, PMID:15708105] -comment: The cortex of the lens is made of the newest lens fibres. With ageing, discrete opacities can develop within the cortex of the lens that typically cause no visual symptoms unless they involve the visual axis or the entire cortex, in which case the lens becomes white and is said to be mature. +comment: The cortex of the lens is made of the newest lens fibers. With aging, discrete opacities can develop within the cortex of the lens that typically cause no visual symptoms unless they involve the visual axis or the entire cortex, in which case the lens becomes white and is said to be mature. xref: UMLS:C2880562 is_a: HP:0011141 ! Age-related cataract property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -86866,19 +86908,19 @@ creation_date: 2011-10-18T01:40:33Z [Term] id: HP:0011146 name: Dialeptic seizure -def: "A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event." [PMID:9738682] +def: "A dialeptic seizure is a type of seizure characterized predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event." [PMID:9738682] comment: The main ictal manifestation of dialeptic seizures is an alteration of consciousness rather than motor or sensory features. The term describes the pure clinical semiology of a seizure and is used independently of the ictal electrographic findings: it could describe a seizure of focal, generalized or unknown onset. In 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (>80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination. synonym: "Behavioral arrest seizure with impairment of awareness irrespective of onset" EXACT [] synonym: "Behavioural arrest seizure with impairment of awareness irrespective of onset" EXACT uk_spelling [] synonym: "Unknown onset behavioral arrest seizure with impairment of awareness" EXACT [] -synonym: "Unknown onset behavioural arrest seizure with impairment of awareness" EXACT [] +synonym: "Unknown onset behavioural arrest seizure with impairment of awareness" EXACT uk_spelling [] is_a: HP:0001250 ! Seizure creation_date: 2011-10-18T01:47:30Z [Term] id: HP:0011147 name: Typical absence seizure -def: "A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event." [HPO_CONTRIBUTOR:jalbers, PMID:28276060, PMID:28276062, PMID:28276064, PMID:6790275] +def: "A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event." [HPO_CONTRIBUTOR:jalbers, PMID:28276060, PMID:28276062, PMID:28276064, PMID:6790275] comment: In 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (>80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure. Typical absences have 2 essential components: (1) clinically the impairment of consciousness (absence), and (2) EEG generalized 3 Hz to 4 Hz (less than 2.5 Hz) spike and slow wave discharges. synonym: "Typical absence" EXACT [] synonym: "Typical absence seizures" EXACT plural_form [] @@ -86902,7 +86944,7 @@ creation_date: 2011-10-18T01:56:54Z [Term] id: HP:0011149 name: Absence seizure with eyelid myoclonia -def: "An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterised by forced upward jerking of the eyelids during an absence seizure." [HPO_CONTRIBUTOR:jalbers, PMID:19469840, PMID:28276060, PMID:28276062, PMID:28276064] +def: "An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterized by forced upward jerking of the eyelids during an absence seizure." [HPO_CONTRIBUTOR:jalbers, PMID:19469840, PMID:28276060, PMID:28276062, PMID:28276064] comment: This type of seizure was classified as a type of generalized non-motor seizure by the ILAE in 2017 because the absence predominates over the eyelid myoclonia. However, eyelid myoclonia can occur as a generalized-onset seizure without any absence, in which they may be better considered a motor seizure: see Eyelid myoclonia seizure. synonym: "Absence seizures with eyelid myoclonia" EXACT plural_form [] xref: UMLS:C4023513 @@ -86914,7 +86956,7 @@ creation_date: 2011-10-18T02:03:21Z [Term] id: HP:0011150 name: Myoclonic absence seizure -def: "Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterised by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017." [https://orcid.org/0000-0001-8486-0558, PMID:28276060, PMID:28276062, PMID:28276064, PMID:9637609] +def: "Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterized by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017." [https://orcid.org/0000-0001-8486-0558, PMID:28276060, PMID:28276062, PMID:28276064, PMID:9637609] synonym: "Myoclonic absence" EXACT [] synonym: "Myoclonic absences" EXACT plural_form [] xref: UMLS:C4023512 @@ -87026,7 +87068,7 @@ creation_date: 2011-10-18T02:26:59Z [Term] id: HP:0011159 name: Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena -def: "A type of focal autonomic seizure characterised by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature." [HPO_CONTRIBUTOR:jalbers, PMID:28276060] +def: "A type of focal autonomic seizure characterized by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature." [HPO_CONTRIBUTOR:jalbers, PMID:28276060] comment: This includes epigastric sensations (which may rise up to the chest or throat) such as upper abdominal discomfort, emptiness, tightness, churning, or hunger, as well as ictal nausea and ictal vomiting. synonym: "Abdominal aura" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Epigastric aura" EXACT [] @@ -87108,7 +87150,7 @@ id: HP:0011165 name: Focal sensory seizure with visual features alt_id: HP:0007175 alt_id: HP:0025121 -def: "A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation." [HPO_CONTRIBUTOR:jalbers] +def: "A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation." [HPO_CONTRIBUTOR:jalbers] comment: More complex visual hallucinations such as seeing formed images are considered a focal cognitive seizure. Focal sensory visual seizures arise in the occipital lobe. Note that there is a distinction between Visual aura and Simple partial occipital seizures. See HPO term HP:0025121 for comments. synonym: "Focal visual seizure" EXACT [] synonym: "Partial visual seizure" EXACT [] @@ -87171,7 +87213,7 @@ creation_date: 2011-10-18T02:39:07Z [Term] id: HP:0011169 name: Generalized clonic seizure -def: "Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups." [HPO_CONTRIBUTOR:jalbers, PMID:28276060, PMID:28276064] +def: "Generalized clonic seizure is a type of generalized motor seizure characterized by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups." [HPO_CONTRIBUTOR:jalbers, PMID:28276060, PMID:28276064] comment: Generalized clonic seizures are much less common than are tonic-clonic seizures, usually occur in infants, and should be distinguished from jitteriness or shuddering attacks. synonym: "Generalised clonic seizure" EXACT [] synonym: "Generalised clonic seizures" EXACT uk_spelling [] @@ -87235,12 +87277,13 @@ creation_date: 2011-11-19T10:10:00Z id: HP:0011173 name: Focal behavior arrest seizure def: "A type of focal non-motor seizure characterized by an arrest or pause of activities, freezing, or immobilization as the predominant semiological feature throughout the seizure." [HPO_CONTRIBUTOR:jalbers, PMID:28276060] -comment: The word 'focal' is explicit in the term title to emphasise the difference between these seizures and absence (generalised non-motor) seizures. Because brief behavior arrest is common and difficult to identify at the start of many seizures, the arrest must be persistent and dominant through the entire seizure. If the patient is able to identify that fear is the primary onset feature of the seizure, and results in immobility, the seizure is a focal emotional seizure with fear, and the immobility is then considered a descriptive feature, due to the fear. If the focal seizure is not characterized by this feature at the very outset of the seizure, it is not used to classify the seizure, it is instead used as a seizure descriptor, after the seizure is classified according to its onset feature. +comment: The word 'focal' is explicit in the term title to emphasize the difference between these seizures and absence (generalized non-motor) seizures. Because brief behavior arrest is common and difficult to identify at the start of many seizures, the arrest must be persistent and dominant through the entire seizure. If the patient is able to identify that fear is the primary onset feature of the seizure, and results in immobility, the seizure is a focal emotional seizure with fear, and the immobility is then considered a descriptive feature, due to the fear. If the focal seizure is not characterized by this feature at the very outset of the seizure, it is not used to classify the seizure, it is instead used as a seizure descriptor, after the seizure is classified according to its onset feature. synonym: "Focal behaviour arrest seizure" EXACT uk_spelling [] synonym: "Focal hypokinetic seizure" EXACT [] synonym: "Hypokinetic seizure" EXACT [] synonym: "Hypokinetic seizures" EXACT plural_form [] -synonym: "Localised seizure with behavioural arrest" EXACT [] +synonym: "Localised seizure with behavioral arrest" EXACT [] +synonym: "Localised seizure with behavioural arrest" EXACT uk_spelling [] synonym: "Localized seizure with behavioral arrest" EXACT [] synonym: "Partial hypokinetic seizure" EXACT [] synonym: "Partial seizure with behavior arrest" EXACT [] @@ -87268,7 +87311,7 @@ creation_date: 2011-11-19T10:13:17Z [Term] id: HP:0011175 name: Focal motor seizure with version -def: "A type of focal motor seizure characterised by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation." [HPO_CONTRIBUTOR:jalbers] +def: "A type of focal motor seizure characterized by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation." [HPO_CONTRIBUTOR:jalbers] synonym: "Versive seizure" EXACT [] synonym: "Versive seizures" EXACT plural_form [] xref: MSH:D020938 @@ -88417,7 +88460,7 @@ name: Abnormality of urine bicarbonate level def: "An abnormal amount of hydrogencarbonate in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of urine HCO3 concentration" EXACT abbreviation [] xref: UMLS:C4023435 -is_a: HP:0033354 ! Abnormal urine metabolite level +is_a: HP:6000531 ! Abnormal urinary organic compound level property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-30T02:57:55Z @@ -89338,7 +89381,7 @@ name: Dry hair alt_id: HP:0200077 alt_id: HP:0200079 alt_id: HP:0200080 -def: "Hair that lacks the lustre (shine or gleam) of normal hair." [https://orcid.org/0000-0003-1773-4011] +def: "Hair that lacks the luster (shine or gleam) of normal hair." [https://orcid.org/0000-0003-1773-4011] synonym: "Dry hair" EXACT layperson [] xref: SNOMEDCT_US:79395009 xref: UMLS:C0277960 @@ -89886,7 +89929,7 @@ creation_date: 2012-03-15T09:58:47Z [Term] id: HP:0011412 name: Ventouse delivery -def: "Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately." [https://orcid.org/0000-0002-6410-0882] +def: "Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labor has not progressed adequately." [https://orcid.org/0000-0002-6410-0882] synonym: "Vacuum extraction" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Vacuum-assisted vaginal delivery" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D014620 @@ -90973,7 +91016,7 @@ id: HP:0011505 name: Cystoid macular edema def: "Cystoid macular edema (CME) is any type of macular edema that involves cyst formation." [HPO_CONTRIBUTOR:DDD_ncarter] comment: CME can occur with Irvine-Gass syndrome and other disorders. -synonym: "Cystoid macular oedema" EXACT [] +synonym: "Cystoid macular edema" EXACT [] xref: MSH:D008269 xref: SNOMEDCT_US:193387007 xref: UMLS:C0024440 @@ -91880,7 +91923,7 @@ creation_date: 2012-04-08T01:13:52Z id: HP:0011587 name: Abnormal branching pattern of the aortic arch def: "A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries." [HPO_CONTRIBUTOR:DDD_dbrown] -comment: The normal aortic arch crosses the left mainstem bronchus and descends in the left paravertebral gutter. The coronary arteries arise from the aortic sinuses. The first branch of the aorta is normally the right brachiocephalic artery, then the left common carotid artery, then the left subclavian artery. Abnormal branching refers to any deviance from the norm of the origin or course of these branches or the proximal vertebral arteries. An anomaly of the aortic arch that results in complete encirclement of the trachea and oesophagus by vascular structures is a vascular ring. +comment: The normal aortic arch crosses the left mainstem bronchus and descends in the left paravertebral gutter. The coronary arteries arise from the aortic sinuses. The first branch of the aorta is normally the right brachiocephalic artery, then the left common carotid artery, then the left subclavian artery. Abnormal branching refers to any deviance from the norm of the origin or course of these branches or the proximal vertebral arteries. An anomaly of the aortic arch that results in complete encirclement of the trachea and esophagus by vascular structures is a vascular ring. xref: UMLS:C4023282 is_a: HP:0012303 ! Abnormal aortic arch morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -94001,7 +94044,7 @@ creation_date: 2012-04-22T06:10:51Z [Term] id: HP:0011784 name: Thyrotoxicosis with diffuse goiter -synonym: "Thyrotoxicosis with diffuse goitre" EXACT [] +synonym: "Thyrotoxicosis with diffuse goiter" EXACT [] xref: SNOMEDCT_US:267374005 xref: UMLS:C0342122 is_a: HP:0000836 ! Hyperthyroidism @@ -95204,9 +95247,9 @@ creation_date: 2012-06-02T11:33:38Z [Term] id: HP:0011891 name: Post-partum hemorrhage -def: "Significant maternal haemorrhage/blood loss following deilvery of a child." [https://orcid.org/0000-0003-2945-4463] +def: "Significant maternal hemorrhage/blood loss following deilvery of a child." [https://orcid.org/0000-0003-2945-4463] synonym: "Bleeding post-delivery" EXACT layperson [https://orcid.org/0000-0001-5208-3432] -synonym: "Post-partum haemorrhage" EXACT [] +synonym: "Post-partum hemorrhage" EXACT [] xref: MSH:D006473 xref: SNOMEDCT_US:47821001 xref: UMLS:C0032797 @@ -95901,7 +95944,7 @@ creation_date: 2012-06-21T09:11:32Z [Term] id: HP:0011956 name: Intestinal lymphoid nodular hyperplasia -def: "A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine." [https://orcid.org/0000-0002-0736-9199, PMID:21481240] +def: "A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centers are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centers; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine." [https://orcid.org/0000-0002-0736-9199, PMID:21481240] xref: UMLS:C4023109 is_a: HP:0002242 ! Abnormal intestine morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -97084,7 +97127,7 @@ creation_date: 2012-08-01T02:16:45Z [Term] id: HP:0012060 name: Acral lentiginous melanoma -def: "A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed." [https://orcid.org/0000-0002-0736-9199] +def: "A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discolored skin and usually displays a size above 6 mm and often several centimeters or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:16974005 xref: SNOMEDCT_US:254732008 xref: UMLS:C0346037 @@ -97318,7 +97361,7 @@ creation_date: 2012-08-18T04:34:49Z id: HP:0012079 name: Abnormality of central motor conduction def: "Any anomaly of the conduction of motor nerve impulses in the central nervous system." [https://orcid.org/0000-0002-0736-9199, PMID:3572430] -comment: Nerve conduction velocity in the central motor pathways of the brain and spinal cord can be studied by methods including transcutaneous electrical stimulation of the cortex, cervical cord, thoracic cord and conus medullaris and determination of motor latencies to various muscles. This measure is thought to represent conduction in large diameter fibres in the corticospinal tracts. +comment: Nerve conduction velocity in the central motor pathways of the brain and spinal cord can be studied by methods including transcutaneous electrical stimulation of the cortex, cervical cord, thoracic cord and conus medullaris and determination of motor latencies to various muscles. This measure is thought to represent conduction in large diameter fibers in the corticospinal tracts. xref: UMLS:C4023055 is_a: HP:0011442 ! Abnormal central motor function property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -97389,7 +97432,6 @@ id: HP:0012086 name: Abnormal urinary color def: "An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal urinary color" EXACT layperson [] -synonym: "Abnormal urinary colour" EXACT layperson [] synonym: "Abnormal urine color" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormal urine colour" EXACT uk_spelling [] xref: SNOMEDCT_US:102867009 @@ -97414,7 +97456,6 @@ name: Abnormal urinary odor def: "A deviation from the normal odor of the urine." [https://orcid.org/0000-0002-0736-9199] comment: Urine does not usually have a strong smell, but the odor may be altered by a number of factors including some diseases. Foul-smelling urine may be due to bacteria that have caused a urinary tract infection. Sweet-smelling urine may be a sign of uncontrolled diabetes or more rarely a disease of metabolism. Liver disease and certain metabolic disorders may cause musty-smelling urine. synonym: "Abnormal urinary odor" EXACT layperson [] -synonym: "Abnormal urinary odour" EXACT layperson [] synonym: "Abnormal urine smell" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:8769003 xref: UMLS:C0278045 @@ -97605,6 +97646,7 @@ creation_date: 2012-09-08T02:50:53Z id: HP:0012106 name: Rhizomelic leg shortening def: "Disproportionate shortening of the proximal segment of the leg (i.e. the femur)." [https://orcid.org/0000-0002-0736-9199] +comment: This term implies that the fibula and tibia are not substantially shortened. xref: UMLS:C4023039 is_a: HP:0008905 ! Rhizomelia property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -97629,7 +97671,7 @@ creation_date: 2012-09-08T04:03:50Z id: HP:0012108 name: Open angle glaucoma def: "A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure," [https://orcid.org/0000-0002-0736-9199, PMID:11815354] -comment: Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disc ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis. +comment: Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disk ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis. synonym: "Primary open angle glaucoma" RELATED [] xref: MSH:C562750 xref: SNOMEDCT_US:77075001 @@ -97643,7 +97685,7 @@ id: HP:0012109 name: Angle closure glaucoma alt_id: HP:0032119 def: "A type of glaucomatous optic neuropathy in an eye that has evidence of angle closure (i.e. significant iridotrabecular contact)." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123, PMID:11815354] -comment: Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disc ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis. +comment: Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disk ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis. synonym: "Closed-angle glaucoma" EXACT [] synonym: "Narrow angle glaucoma" EXACT [] synonym: "Primary angle closure glaucoma" RELATED [] @@ -97863,7 +97905,7 @@ creation_date: 2012-09-16T06:53:53Z [Term] id: HP:0012128 name: Basal ganglia necrosis -def: "Death of cells in the basal ganglia." [https://orcid.org/0000-0002-0736-9199] +def: "Death of cells in the basal ganglia. This finding can be confirmed by autopsy. It can be suspected with hyperintensities within the basal ganglia on FLAIR and T2-sequences on magnetic resonance imaging." [https://orcid.org/0000-0002-0736-9199, PMID:33198265] xref: UMLS:C4023035 is_a: HP:0002134 ! Abnormal basal ganglia morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-6996-5279 @@ -98267,7 +98309,7 @@ xref: MSH:D019956 xref: SNOMEDCT_US:43954004 xref: UMLS:C0018672 is_a: HP:0100716 ! Self-injurious behavior -is_a: HP:5200017 ! Abnormal movements of face and head +is_a: HP:5200017 ! Steroetypic movements of face and head property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153 @@ -98332,7 +98374,7 @@ id: HP:0012172 name: Stereotypical body rocking def: "Habitual repetitive movement of the entire body, front to back or side to side." [] xref: UMLS:C4023013 -is_a: HP:5200019 ! Abnormal movements of the whole body +is_a: HP:5200019 ! Stereotypic whole-body movements property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153 @@ -99158,7 +99200,7 @@ creation_date: 2013-03-31T04:20:43Z id: HP:0012240 name: Increased intramyocellular lipid droplets def: "An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See PMID 20691590 for histological images." [https://orcid.org/0000-0002-0736-9199, PMID:20691590] -comment: In normal muscle cells, lipid content takes the aspect of small droplets which concentration and size are usually higher in type 1 fibres than in type 2 fibres. +comment: In normal muscle cells, lipid content takes the aspect of small droplets which concentration and size are usually higher in type 1 fibers than in type 2 fibers. synonym: "Increased muscle lipid droplets" RELATED [] xref: UMLS:C4020730 is_a: HP:0009058 ! Increased muscle lipid content @@ -100326,7 +100368,7 @@ creation_date: 2013-09-15T09:09:40Z id: HP:0012347 name: Abnormal protein N-linked glycosylation def: "An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein." [https://orcid.org/0000-0002-0736-9199, PMID:22516080] -comment: Essentially, all proteins (except albumin) that travel through the ER-Golgi network undergo N-linked glycosylation. Glycans promote protein folding, stability, trafficking, localisation, and oligomerisation. They play vital parts in cell-cell interactions and intracellular signalling. +comment: Essentially, all proteins (except albumin) that travel through the ER-Golgi network undergo N-linked glycosylation. Glycans promote protein folding, stability, trafficking, localisation, and oligomerisation. They play vital parts in cell-cell interactions and intracellular signaling. xref: UMLS:C4022944 is_a: HP:0012346 ! Abnormal protein glycosylation property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -100684,7 +100726,7 @@ id: HP:0012380 name: Reduced tissue carnitine O-palmitoyltransferase 2 activity def: "Reduced carnitine O-palmitoyltransferase (CPT II; EC 2.3.1.21) activity or level, leading to a reduced activity of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine. (CPT II activity can be measured in tissues including fibroblasts, lymphoblasts, and skeletal muscle." [https://orcid.org/0000-0002-0736-9199, PMID:1528846] xref: UMLS:C4022921 -is_a: HP:6000231 ! Abnormal tissue enzyme activity +is_a: HP:6000231 ! Abnormal tissue enzyme concentration or activity property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-10-15T09:00:17Z @@ -101234,7 +101276,7 @@ creation_date: 2013-11-12T10:28:18Z id: HP:0012426 name: Optic disc drusen def: "Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve." [https://orcid.org/0000-0002-0736-9199, PMID:22787500, PMID:23658477, PMID:30524490] -comment: Optic disc drusen can lead to an elevated disc and thus mimic disc swelling (pseudopapilledema). +comment: Optic disc drusen can lead to an elevated disk and thus mimic disk swelling (pseudopapilledema). synonym: "Optic nerve head drusen" EXACT [] xref: MSH:D015594 xref: SNOMEDCT_US:33629003 @@ -101316,7 +101358,6 @@ id: HP:0012433 name: Abnormal social behavior def: "An abnormality of actions or reactions of a person taking place during interactions with others." [] synonym: "Abnormal social behavior" EXACT layperson [https://orcid.org/0000-0001-9112-5148, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-6670-9157, https://orcid.org/0000-0002-9593-5508] -synonym: "Abnormal social behaviour" EXACT layperson [https://orcid.org/0000-0001-9112-5148, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-6670-9157, https://orcid.org/0000-0002-9593-5508] synonym: "Abnormal social interactions" EXACT [https://orcid.org/0000-0001-9112-5148, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-6670-9157, https://orcid.org/0000-0002-9593-5508] xref: UMLS:C4020726 xref: UMLS:C4021087 @@ -101993,7 +102034,7 @@ creation_date: 2013-11-29T09:11:20Z [Term] id: HP:0012490 name: Panniculitis -def: "Inflammation of adipose tissue." [https://orcid.org/0000-0002-0736-9199] +def: "Inflammation of subcutaneous adipose tissue." [https://orcid.org/0000-0002-0736-9199, PMID:20666823] comment: Panniculitis most commonly affects the skin and characterized by reddened subcutaneous nodules. synonym: "Inflammation of adipose tissue" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Inflammation of fat tissue" EXACT layperson [https://orcid.org/0000-0001-5208-3432] @@ -102273,9 +102314,10 @@ creation_date: 2013-12-08T09:44:24Z [Term] id: HP:0012517 -name: Reduced catalase level -def: "An abnormally decreased amount of catalase level." [https://orcid.org/0000-0002-0736-9199] +name: Reduced circulating catalase activity +def: "Activity or concentration of catalase in the blood circulation below the lower limit of normal." [https://orcid.org/0000-0002-0736-9199] comment: Catalase catalyzes the decomposition of hydrogen peroxide to water and oxygen. +synonym: "Reduced catalase level" EXACT [] xref: UMLS:C4022869 is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -102307,7 +102349,7 @@ creation_date: 2013-12-09T07:06:12Z id: HP:0012520 name: Dilation of Virchow-Robin spaces def: "Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery." [https://orcid.org/0000-0001-5208-3432, PMID:17620468, PMID:23867200, PMID:25564639] -comment: Virchow-Robin spaces are commonly seen at magnetic resonance imaging. These perivascular spaces as fluid-filled spaces that follow the typical course of a vessel as it goes through grey or white matter. The spaces have signal intensity similar to that of cerebrospinal fluid (CSF) on all magnetic resonance sequences. +comment: Virchow-Robin spaces are commonly seen at magnetic resonance imaging. These perivascular spaces as fluid-filled spaces that follow the typical course of a vessel as it goes through gray or white matter. The spaces have signal intensity similar to that of cerebrospinal fluid (CSF) on all magnetic resonance sequences. synonym: "Dilated cerebral perivascular spaces" RELATED [] synonym: "Dilated Virchow-Robin spaces" EXACT [] synonym: "Perivascular spaces" EXACT [] @@ -102368,7 +102410,7 @@ creation_date: 2013-12-15T08:56:17Z [Term] id: HP:0012526 name: Absence of alpha granules -def: "A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears." [https://orcid.org/0000-0002-0736-9199, PMID:3877532] +def: "A lack of platelet alpha granules. This typically results in the gray appearance of platelets in giemsa stained blood smears." [https://orcid.org/0000-0002-0736-9199, PMID:3877532] synonym: "Gray platelets" EXACT [] synonym: "Grey platelets" EXACT uk_spelling [] xref: UMLS:C4022864 @@ -103276,7 +103318,7 @@ name: Abnormality of urinary uric acid level def: "Abnormal amount of urate in the urine." [https://orcid.org/0000-0002-0736-9199] comment: Xanthine oxidase oxidizes oxypurines such as xanthine and hypoxanthine to uric acid. Uric acid is the final oxidation product of purine catabolism. xref: UMLS:C4022822 -is_a: HP:0033354 ! Abnormal urine metabolite level +is_a: HP:6000531 ! Abnormal urinary organic compound level property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-17T11:56:43Z @@ -103483,7 +103525,7 @@ creation_date: 2014-01-17T10:59:37Z id: HP:0012629 name: Phakodonesis def: "Tremulousness (trembling) of the lens of the eye." [https://orcid.org/0000-0002-0736-9199, PMID:5472193] -comment: Phacodonesis results from lesions of some or most of the zonular fibres are broken. +comment: Phacodonesis results from lesions of some or most of the zonular fibers are broken. synonym: "Phacodonesis" EXACT [] synonym: "Trembling eye lens" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:116669003 @@ -104640,7 +104682,7 @@ creation_date: 2014-03-23T03:00:50Z id: HP:0012735 name: Cough def: "A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation." [https://orcid.org/0000-0002-0736-9199, PMID:16428719, PMID:17540788] -comment: The European Respiratory Society Task Force recommended two possible definitions of cough: (1) A three-phase expulsive motor act characterized by an inspiratory effort (inspiratory phase) followed by a forced expiratory effort against a closed glottis (compressive phase) and then by opening of the glottis and rapid expiratory airflow (expulsive phase);and (2) A forced expiratory manoeuvre, usually against a closed glottis and associated with a characteristic sound. The term Cough or any of its more specific descendents can be modified by the terms Acute (HP:0011009), Subacute (HP:0011011), and Chronic (HP:0011010). In adults, an acute cough lasts less than 3 weeks, a subacute cough from 3 to 8 weeks, and a chronic cough longer than 8 weeks. In children aged less than 15 years a chronic cough is defined as a daily cough lasting for over 4 weeks. +comment: The European Respiratory Society Task Force recommended two possible definitions of cough: (1) A three-phase expulsive motor act characterized by an inspiratory effort (inspiratory phase) followed by a forced expiratory effort against a closed glottis (compressive phase) and then by opening of the glottis and rapid expiratory airflow (expulsive phase);and (2) A forced expiratory maneuver, usually against a closed glottis and associated with a characteristic sound. The term Cough or any of its more specific descendents can be modified by the terms Acute (HP:0011009), Subacute (HP:0011011), and Chronic (HP:0011010). In adults, an acute cough lasts less than 3 weeks, a subacute cough from 3 to 8 weeks, and a chronic cough longer than 8 weeks. In children aged less than 15 years a chronic cough is defined as a daily cough lasting for over 4 weeks. synonym: "Cough" EXACT layperson [] synonym: "Coughing" EXACT layperson [] xref: MSH:D003371 @@ -105315,10 +105357,12 @@ creation_date: 2014-05-24T04:37:10Z [Term] id: HP:0012796 name: Increased cup-to-disc ratio -def: "An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells." [https://orcid.org/0000-0002-0736-9199, PMID:23557744] -comment: A cup to disc ratio of 0.3 is generally considered normal. Note that the ratio is measured in the vertical orientation unless otherwise specified. -synonym: "Elevated cup to disc ratio" EXACT [] -synonym: "Increased cup disc ratio" EXACT [] +def: "An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disk. The optic disc has an orange-pink rim with a pale center (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells." [https://orcid.org/0000-0002-0736-9199, PMID:23557744] +comment: A cup to disk ratio of 0.3 is generally considered normal. Note that the ratio is measured in the vertical orientation unless otherwise specified. +synonym: "Elevated cup to disc ratio" EXACT uk_spelling [] +synonym: "Elevated cup to disk ratio" EXACT [] +synonym: "Increased cup disc ratio" EXACT uk_spelling [] +synonym: "Increased cup disk ratio" EXACT [] synonym: "Optic cupping" EXACT [] xref: UMLS:C3805911 is_a: HP:0012795 ! Abnormal optic disc morphology @@ -105631,7 +105675,7 @@ creation_date: 2014-05-28T08:49:23Z id: HP:0012819 name: Myocarditis def: "Inflammation of the myocardium." [https://orcid.org/0000-0002-0736-9199, PMID:21304213, PMID:22185868, PMID:22361396] -comment: Myocarditis can be caused by a variety of bacterial and viral infections. Enteroviruses, especially coxsackievirus B, and adenovirus and parvovirus B19 are often associated with acute myocarditis. Exposure to drug treatment, physical stimuli such as radiation and heat, metabolic disorders, immune disorders, and pregnancy are also causes of myocarditis. Many cases of myocarditis are idiopathic. Myocarditis presents with non-specific symptoms including chest pain, dyspnoea, and palpitations, and thus often mimics more common disorders such as coronary artery disease. In some patients, cardiac MRI and endomyocardial biopsy can help identify myocarditis, predict risk of cardiovascular events, and guide treatment. +comment: Myocarditis can be caused by a variety of bacterial and viral infections. Enteroviruses, especially coxsackievirus B, and adenovirus and parvovirus B19 are often associated with acute myocarditis. Exposure to drug treatment, physical stimuli such as radiation and heat, metabolic disorders, immune disorders, and pregnancy are also causes of myocarditis. Many cases of myocarditis are idiopathic. Myocarditis presents with non-specific symptoms including chest pain, dyspnea, and palpitations, and thus often mimics more common disorders such as coronary artery disease. In some patients, cardiac MRI and endomyocardial biopsy can help identify myocarditis, predict risk of cardiovascular events, and guide treatment. synonym: "Inflammation of heart muscle" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D009205 xref: SNOMEDCT_US:50920009 @@ -106636,7 +106680,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0020042 name: Double depressor palsy -def: "An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye." [https://orcid.org/0000-0003-0986-4123] +def: "An ocular movement abnormality characterized by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye." [https://orcid.org/0000-0003-0986-4123] is_a: HP:0025068 ! Incomitant strabismus property_value: http://purl.org/dc/elements/1.1/date "2017-12-20T17:12:54Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -106768,13 +106812,11 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0020063 -name: Increased hemoglobin concentration -def: "An abnormal elevation above normal hemoglobin concentration in the circulation." [] -synonym: "Increased haemoglobin concentration" EXACT uk_spelling [] -synonym: "Increased Hb concentration" EXACT abbreviation [] -is_a: HP:0020061 ! Abnormal hemoglobin concentration +name: obsolete Increased hemoglobin concentration property_value: http://purl.org/dc/elements/1.1/date "2018-09-28T23:53:24Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 +is_obsolete: true +replaced_by: HP:0001900 [Term] id: HP:0020064 @@ -107030,7 +107072,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0020101 name: Invasive fungal infection def: "Fungal infection characterized by invasion of host tissues." [PMID:24718393] -comment: Invasive fungal infections are a significant health problem in immunocompromised patients. Major risk factors for IFI include neutropenia less than 500 neutrophils/ml for more than 10 days, haematological malignancies, bone marrow transplantation, prolonged (over 4 wk) treatment with corticosteroids; prolonged (over 7 days) stays in intensive care, chemotherapy, HIV infection, invasive medical procedures, and the newer immune suppressive agents. +comment: Invasive fungal infections are a significant health problem in immunocompromised patients. Major risk factors for IFI include neutropenia less than 500 neutrophils/ml for more than 10 days, hematological malignancies, bone marrow transplantation, prolonged (over 4 wk) treatment with corticosteroids; prolonged (over 7 days) stays in intensive care, chemotherapy, HIV infection, invasive medical procedures, and the newer immune suppressive agents. is_a: HP:0020100 ! Unusual fungal infection property_value: http://purl.org/dc/elements/1.1/date "2019-04-08T19:11:15Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -107038,7 +107080,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0020102 name: Pneumocystis jirovecii pneumonia -def: "An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnoea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing." [PMID:26281787] +def: "An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing." [PMID:26281787] comment: Pneumocystis, initially considered to be a protozoan, later has been assigned to the kingdom of fungi. is_a: HP:0032255 ! Opportunistic fungal infection property_value: http://purl.org/dc/elements/1.1/date "2019-04-08T19:15:19Z" xsd:dateTime @@ -107163,7 +107205,7 @@ creation_date: 2019-07-02T16:30:41Z id: HP:0020119 name: Abnormal retinal nerve fiber layer morphology def: "A structural abnormality of the retinal nerve fiber layer" [] -comment: The retinal nerve fiber layer consists of unmyelinated ganglion cell axons coursing on the vitreal surface of the retina to the optic disk. These axons become myelinated after entering the optic nerve. +comment: The retinal nerve fiber layer consists of unmyelinated ganglion cell axons coursing on the vitreal surface of the retina to the optic disc. These axons become myelinated after entering the optic nerve. synonym: "Abnormal retinal nerve fibre layer morphology" EXACT uk_spelling [] is_a: HP:0000479 ! Abnormal retinal morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -107642,9 +107684,10 @@ creation_date: 2019-07-06T21:47:57Z [Term] id: HP:0020175 -name: Reduced cholinesterase level -def: "A decreased amount of cholinesterase in the blood circulation." [https://orcid.org/0000-0002-8169-9049, PMID:29853783] +name: Reduced circulating cholinesterase activity +def: "Activity or concentration of cholinesterase in the blood circulation below the lower limit of normal." [https://orcid.org/0000-0002-8169-9049, PMID:29853783] comment: Serum cholinesterase (butyrylcholinesterase (BChE)) is an enzyme that hydrolyzes acetylcholine. BChE is synthetized in the liver and has conventionally been used as a liver function test. +synonym: "Reduced cholinesterase level" EXACT [] is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-06T22:04:04Z @@ -107707,7 +107750,7 @@ id: HP:0020182 name: Abnormal circulating A-type atrial natriuretic peptide concentration def: "A measurable change in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure." [HPO_CONTRIBUTOR:RGD_SJWang, PMID:28552863] synonym: "Abnormal A-type atrial natriuretic peptide level" EXACT [] -is_a: HP:0010876 ! Abnormal circulating protein concentration +is_a: HP:6000692 ! Abnormal circulating atrial natriuretic peptide pro-hormone concentration property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-24T16:39:04Z @@ -107873,15 +107916,15 @@ creation_date: 2019-09-05T14:22:21Z [Term] id: HP:0020201 name: Abnormal sarcomere morphology -def: "Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs." [] +def: "Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z disks." [] is_a: HP:0004303 ! Abnormal muscle fiber morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-12-23T15:56:20Z [Term] id: HP:0020202 -name: Abnormal Z disc morphology -def: "Any structural anomaly of the Z disc, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached." [PMID:22028589] +name: Abnormal Z disk morphology +def: "Any structural anomaly of the Z disk, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached." [PMID:22028589] comment: Z-discs (Z-disk, Z-line, Z-band) delineate the lateral borders of sarcomeres and are the smallest functional units in striated muscle. The core of a Z-disc consists of actin filaments coming from adjacent sarcomeres which are crosslinked by alpha-actinin molecules. Z-discs, which are difficult to detect in conventional light microscopy, appear in the longitudinal view of electron microscopy as electron dense bands with varying sizes, ranging from 30 to 50 nm in fast muscle and 100 t0 140 nm in slow muscle and cardiac myocytes. is_a: HP:0020201 ! Abnormal sarcomere morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -107890,8 +107933,8 @@ creation_date: 2019-12-23T15:57:40Z [Term] id: HP:0020203 name: Z-band streaming -def: "Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disc may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change." [PMID:1180479, PMID:22028589] -is_a: HP:0020202 ! Abnormal Z disc morphology +def: "Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disk may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change." [PMID:1180479, PMID:22028589] +is_a: HP:0020202 ! Abnormal Z disk morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-12-23T15:58:23Z @@ -108686,7 +108729,7 @@ property_value: http://purl.org/dc/terms/date "2023-11-10T21:31:00Z" xsd:dateTim id: HP:0025004 name: Hallux rigidus def: "Osteoarthritis of the metatarsophalangeal joint of the first toe." [https://orcid.org/0000-0002-0736-9199, PMID:24649409] -comment: Hallux rigidus is characterised by arthralgia, which is usually worsened by walking. With time the joint enlarges and the symptoms become more pronounced with pain at the dorsal bony prominence of the first metatarsophalengeal joint (MTPJ) and decreased range of motion, especially dorsiflexion. In this process the destruction of the cartilage commonly starts at the dorsal portion of the metatarsal head and the bony prominence might impinge against the proximal phalanx.. Physical examination usually shows a painful, tender and swollen first MTPJ with limited motion and pain usually when dorsiflexed. Typical radiographic findings are asymmetric joint narrowing and a flattened metatarsal head. With advancement of the disease more of the joint surface is involved and subchondral cysts, sclerosis and bony proliferation at the joint margins occur and the joint narrowing progresses [PMID:24649409]. +comment: Hallux rigidus is characterized by arthralgia, which is usually worsened by walking. With time the joint enlarges and the symptoms become more pronounced with pain at the dorsal bony prominence of the first metatarsophalengeal joint (MTPJ) and decreased range of motion, especially dorsiflexion. In this process the destruction of the cartilage commonly starts at the dorsal portion of the metatarsal head and the bony prominence might impinge against the proximal phalanx.. Physical examination usually shows a painful, tender and swollen first MTPJ with limited motion and pain usually when dorsiflexed. Typical radiographic findings are asymmetric joint narrowing and a flattened metatarsal head. With advancement of the disease more of the joint surface is involved and subchondral cysts, sclerosis and bony proliferation at the joint margins occur and the joint narrowing progresses [PMID:24649409]. synonym: "Arthritis of the big toe" EXACT layperson [] xref: MSH:D020859 xref: SNOMEDCT_US:6654000 @@ -108869,7 +108912,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0025024 name: Megarectum def: "An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or muscular abnormalities, which remains after disimpaction of the rectum." [https://orcid.org/0000-0002-0736-9199, PMID:10869000] -comment: Patients with idiopathic megarectum have a dilated rectum but the proximal colon is usually of normal diameter. The condition usually starts in childhood or adolescence, and faecal impaction is common. By contrast, patients with idiopathic megacolon usually do not experience impaction, and the symptoms often begin in adult life [PMID:9301507]. +comment: Patients with idiopathic megarectum have a dilated rectum but the proximal colon is usually of normal diameter. The condition usually starts in childhood or adolescence, and fecal impaction is common. By contrast, patients with idiopathic megacolon usually do not experience impaction, and the symptoms often begin in adult life [PMID:9301507]. is_a: HP:0002034 ! Abnormal rectum morphology property_value: http://purl.org/dc/elements/1.1/date "2016-08-26T11:18:38Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -108994,7 +109037,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0025039 name: Basal ganglia edema def: "Swelling within the basal ganglia due to the accumulation of fluid." [] -synonym: "Basal ganglia oedema" EXACT [] +synonym: "Basal ganglia edema" EXACT [] synonym: "Edema of the basal ganglia" EXACT [] synonym: "Oedema of the basal ganglia" EXACT [] is_a: HP:0002134 ! Abnormal basal ganglia morphology @@ -109007,7 +109050,7 @@ name: Thalamic edema def: "Swelling within the thalamus due to the accumulation of fluid." [] synonym: "Edema of the thalamus" EXACT [] synonym: "Oedema of the thalamus" EXACT [] -synonym: "Thalamic oedema" EXACT [] +synonym: "Thalamic edema" EXACT [] is_a: HP:0010663 ! Abnormal thalamus morphology property_value: http://purl.org/dc/elements/1.1/date "2016-09-25T14:11:37Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -109197,7 +109240,7 @@ id: HP:0025064 name: Thalamic hemorrhage def: "Bleeding in the thalamus." [] comment: Thalamic hemorrhage may be observed in individuals with hypertension. In both the acute and chronic phases of bleeding, prominent susceptibility effect, seen as hypointense blooming on sequences, is typically seen upon magnetic resonance imaging. -synonym: "Thalamic haemorrhage" EXACT [] +synonym: "Thalamic hemorrhage" EXACT [] is_a: HP:0010663 ! Abnormal thalamus morphology property_value: http://purl.org/dc/elements/1.1/date "2016-09-26T10:03:34Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -109379,7 +109422,6 @@ comment: Diarrhea that contains bright red or maroon-colored blood may be referr synonym: "Blood in stool" BROAD layperson [] synonym: "Bloody bowel movement" EXACT layperson [] synonym: "Bloody diarrhea" EXACT layperson [] -synonym: "Bloody diarrhoea" EXACT layperson [] synonym: "Bloody stool" BROAD layperson [] is_a: HP:0002014 ! Diarrhea property_value: http://purl.org/dc/elements/1.1/date "2016-10-15T13:58:14Z" xsd:dateTime @@ -109389,7 +109431,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0025086 name: Bloody mucoid diarrhea def: "Passage of many stools containing blood and mucus." [] -synonym: "Bloody mucoid diarrhoea" EXACT [] +synonym: "Bloody mucoid diarrhea" EXACT [] is_a: HP:0025085 ! Bloody diarrhea property_value: http://purl.org/dc/elements/1.1/date "2016-10-15T13:59:04Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -109562,7 +109604,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0025105 name: Nevus anemicus -def: "A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anaemic spots." [PMID:22483320, PMID:25864701] +def: "A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anemic spots." [PMID:22483320, PMID:25864701] synonym: "Naevus anaemicus" EXACT [] is_a: HP:0025104 ! Capillary malformation property_value: http://purl.org/dc/elements/1.1/date "2016-10-28T23:49:41Z" xsd:dateTime @@ -109598,7 +109640,7 @@ id: HP:0025109 name: Reduced red cell pyruvate kinase level def: "Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate." [PMID:7949104] synonym: "Reduced erythrocyte pyruvate kinase activity" EXACT [] -is_a: HP:0030272 ! Abnormal erythrocyte enzyme level +is_a: HP:0030272 ! Abnormal erythrocyte enzyme concentration or activity property_value: http://purl.org/dc/elements/1.1/date "2016-10-29T00:37:18Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -109801,7 +109843,7 @@ id: HP:0025132 name: Abnormal circulating estrogen level def: "A deviation from normal concentration of the hormone estrogen in the blood circulation." [] comment: Clinical estrogen tests measure one of three components: estrone (E1), estradiol (E2), or estriol (E3). -synonym: "Abnormal circulating oestrogen level" EXACT [] +synonym: "Abnormal circulating estrogen level" EXACT [] synonym: "Abnormal estrogen level" EXACT [] synonym: "Abnormal oestrogen level" EXACT uk_spelling [] is_a: HP:0033799 ! Abnormal circulating sex hormone concentration @@ -109989,8 +110031,8 @@ name: Poor visual behavior for age def: "Lack of visual responsiveness or decrease in visual capabilities suggesting a lack of visual responsiveness or decrease in visual capabilities in an infant or young child in which visual behavior fails to meet normal developmental milestones." [] comment: A failure to meet age-related milestones in areas such as (i) focusing ability, (ii) eye coordinationg and tracking of objects in the visual field, (iii) depth perception, (iv) color perception, and (v) object and face recognition. These milestones are generally met in the first three months of life, and failure to meet them may indicate abnormal visual development or function. synonym: "Abnormal visual behavior for age" EXACT [] -synonym: "Abnormal visual behaviour for age" EXACT [] -synonym: "Poor visual behaviour for age" EXACT [] +synonym: "Abnormal visual behaviour for age" EXACT uk_spelling [] +synonym: "Poor visual behavior for age" EXACT [] is_a: HP:0000504 ! Abnormality of vision property_value: http://purl.org/dc/elements/1.1/date "2016-12-03T21:34:47Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -110177,8 +110219,8 @@ id: HP:0025171 name: Rosette-forming glioneuronal tumor def: "A tumor of the central nervous system that has components of both neurocytic and glial areas, whereby usually the glial component of the tumor predominates. Rossette-forming glioneuronal tumors (RGNT) have biphasic cytoarchitecture with two elements; neurocytic rosettes resembling Homer-Wright rosettes, and astrocytic component resembling a pilocytic astrocytoma. RGNTs are low-grade tumors that lack histopathological signs of malignancy." [PMID:27179225] synonym: "Rosette-forming glioneuronal neoplasm" EXACT [] +synonym: "Rosette-forming glioneuronal tumor" EXACT [] synonym: "Rosette-forming glioneuronal tumor of the fourth ventricle" RELATED [] -synonym: "Rosette-forming glioneuronal tumour" EXACT [] synonym: "Rosette-forming glioneuronal tumour of the fourth ventricle" RELATED uk_spelling [] is_a: HP:0025170 ! Neuronal/glioneuronal neoplasm of the central nervous system property_value: http://purl.org/dc/elements/1.1/date "2016-12-04T14:35:51Z" xsd:dateTime @@ -110288,7 +110330,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0025186 name: Marcus Gunn jaw winking synkinesis -def: "Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing." [PMID:23345532, PMID:25754805] +def: "Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva maneuver and even by breathing." [PMID:23345532, PMID:25754805] synonym: "Marcus Gunn jaw-winking syndrome" EXACT [] synonym: "Pterygoid-levator synkinesis" EXACT [] synonym: "Trigemino-oculomotor synkinesis" EXACT [] @@ -110308,7 +110350,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0025190 name: Bilateral tonic-clonic seizure with generalized onset -def: "A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterised by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure." [PMID:20196795, PMID:28276060, PMID:28276064, PMID:6790275] +def: "A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterized by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure." [PMID:20196795, PMID:28276060, PMID:28276064, PMID:6790275] synonym: "Bilateral tonic-clonic seizure with generalised onset" EXACT uk_spelling [] synonym: "Generalised tonic-clonic seizure without focal onset" EXACT [] synonym: "Generalised tonic-clonic seizure without partial onset" EXACT [] @@ -110318,10 +110360,10 @@ synonym: "Generalized tonic-clonic seizure without focal onset" EXACT [] synonym: "Generalized tonic-clonic seizure without partial onset" EXACT [] synonym: "Generalized tonic-clonic seizures without focal onset" EXACT [] synonym: "Generalized-onset tonic-clonic seizure" EXACT [] -synonym: "Primarily generalised tonic-clonic seizures" EXACT [] +synonym: "Primarily generalised tonic-clonic seizures" EXACT uk_spelling [] synonym: "Primarily generalized tonic-clonic seizures" EXACT [] -synonym: "Primary generalised tonic-clonic seizure" EXACT [] -synonym: "Primary generalised tonic-clonic seizures" EXACT [] +synonym: "Primary generalised tonic-clonic seizure" EXACT uk_spelling [] +synonym: "Primary generalised tonic-clonic seizures" EXACT uk_spelling [] synonym: "Primary generalized tonic-clonic seizure" EXACT [] synonym: "Primary generalized tonic-clonic seizures" EXACT [] is_a: HP:0002069 ! Bilateral tonic-clonic seizure @@ -112174,7 +112216,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0025389 name: Pulmonary interstitial high-resolution computed tomography abnormality -def: "High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities." [PMID:23247773] +def: "High-resolution computed tomography (HRCT) can distinguish findings that characterize characterize interstitial lung diseases in a way not possible with other modalities." [PMID:23247773] synonym: "Pulmonary interstitiatial HRCT abnormality" EXACT abbreviation [] is_a: HP:0006530 ! Abnormal pulmonary interstitial morphology is_a: HP:0031983 ! Abnormal pulmonary thoracic imaging finding @@ -112184,7 +112226,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0025390 name: Reticular pattern on pulmonary HRCT -def: "On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh." [PMID:23247773] +def: "On pulmonary high-resolution computed tomography, reticular pattern is characterized by innumerable interlacing shadows suggesting a mesh." [PMID:23247773] comment: The constituents of the reticular pattern may be all or some of the following: interlobular septal thickening, intralobular interstitial thickening, wall cysts of honeycombing, peribronchovascular interstitial thickening and traction bronchiectasis/bronchiolectasis is_a: HP:0025389 ! Pulmonary interstitial high-resolution computed tomography abnormality property_value: http://purl.org/dc/elements/1.1/date "2017-04-22T12:55:23Z" xsd:dateTime @@ -112205,7 +112247,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0025392 name: Nodular pattern on pulmonary HRCT -def: "A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter." [PMID:23247773] +def: "A nodular pattern is characterized on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter." [PMID:23247773] is_a: HP:0025389 ! Pulmonary interstitial high-resolution computed tomography abnormality property_value: http://purl.org/dc/elements/1.1/date "2017-04-22T12:59:43Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -112699,7 +112741,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0025452 name: Pyoderma gangrenosum def: "A deep skin ulcer with a well defined border, which is usually violet or blue. The ulcer edge is often undermined (worn and damaged) and the surrounding skin is erythematous and indurated. The ulcer often starts as a small papule or collection of papules, which break down to form small ulcers with a so called cat's paw appearance. These coalesce and the central area then undergoes necrosis to form a single ulcer." [PMID:16858047] -comment: Pyoderma gangrenosum can occur on any skin surface, but is most commonly seen on the legs. Patients are often systemically unwell with symptoms such as fever, malaise, arthralgia, and myalgia. Lesions are usually painful and the pain can be severe. When the lesions heal the scars are often cribriform. About half of the cases are associated with underlying systemic conditions, such as inflammatory bowel disease, arthritis, and haematological malignancies. +comment: Pyoderma gangrenosum can occur on any skin surface, but is most commonly seen on the legs. Patients are often systemically unwell with symptoms such as fever, malaise, arthralgia, and myalgia. Lesions are usually painful and the pain can be severe. When the lesions heal the scars are often cribriform. About half of the cases are associated with underlying systemic conditions, such as inflammatory bowel disease, arthritis, and hematological malignancies. is_a: HP:0200042 ! Skin ulcer property_value: http://purl.org/dc/elements/1.1/date "2017-05-04T10:30:38Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -113230,7 +113272,8 @@ id: HP:0025514 name: Morning glory anomaly def: "An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic." [] comment: The name of this anomaly derives from a perceived similarity of the anomaly to the morning glory flower. -synonym: "Morning glory disc anomaly" EXACT [] +synonym: "Morning glory disc anomaly" EXACT uk_spelling [] +synonym: "Morning glory disk anomaly" EXACT [] synonym: "Morning glory optic disc" EXACT [] is_a: HP:0000587 ! Abnormal optic nerve morphology property_value: http://purl.org/dc/elements/1.1/date "2017-05-15T02:00:59Z" xsd:dateTime @@ -113266,7 +113309,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0025518 name: Visual gaze preference def: "An abnormality of gaze that can be observed following an acute supranuclear cerebral lesion (e.g., stroke) that is characterized by an acute inability to direct gaze contralateral to the side of the lesion and is accompanied by a tendency for tonic deviation of the eyes toward the side of the lesion." [] -comment: With visual gaze preference due to an acute supranuclear cerebral lesion, the oculocephalic reflex (which can be elicited by the so called Doll's head manoeuvre) is intact. The head is briskly turned from side to side with the head held briefly at the end of each turn. If the brainstem and infranuclear pathways are intact, then the eyes rotate to the opposite side to the direction of head rotation. Stroke is the most common etiology of this finding. +comment: With visual gaze preference due to an acute supranuclear cerebral lesion, the oculocephalic reflex (which can be elicited by the so called Doll's head maneuver) is intact. The head is briskly turned from side to side with the head held briefly at the end of each turn. If the brainstem and infranuclear pathways are intact, then the eyes rotate to the opposite side to the direction of head rotation. Stroke is the most common etiology of this finding. is_a: HP:0000496 ! Abnormality of eye movement property_value: http://purl.org/dc/elements/1.1/date "2017-05-17T01:15:33Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -113383,7 +113426,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0025531 name: Harlequin phenomenon -def: "The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body." [PMID:21575077] +def: "The Harlequin phenomenon consists of a sudden change in skin color, resulting in two different body colors, one on each half of the body." [PMID:21575077] comment: The Harlequin phenomenon (HF) is most common in the newborn and can be a generalized phenomenon or only involve a specific body area. The HF of the newborn is thought to be secondary to a relative hypothalamic control immaturity of the sympathetic peripheral vascular tonus, although it has also been described in other age groups, primarily located to the face and neck and mostly caused by a sympathetic disautonomy. While certainly peculiar, the HF is a benign event in the newborn. is_a: HP:0011122 ! Abnormality of skin physiology property_value: http://purl.org/dc/elements/1.1/date "2017-05-18T00:38:26Z" xsd:dateTime @@ -113589,7 +113632,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0025559 name: Coronary cataract -def: "A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown." [https://orcid.org/0000-0003-0986-4123] +def: "A type of cataract characterized by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown." [https://orcid.org/0000-0003-0986-4123] is_a: HP:0010920 ! Zonular cataract property_value: http://purl.org/dc/elements/1.1/date "2017-12-13T13:04:32Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -113653,7 +113696,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0025567 name: Central serous chorioretinopathy -def: "An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the centre of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months." [PMID:17662099] +def: "An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the center of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months." [PMID:17662099] comment: The condition can be precipitated by psychosocial stress and hypercortisolism. Ophthalmoscopic signs of CSC range from mono- or paucifocal RPE lesions with prominent elevation of the neurosensory retina by clear fluid - typical of cases of recent onset - to shallow detachments overlying large patches of irregularly depigmented RPE. The spectrum of lesions includes RPE detachments. Granular or fibrinous material may accumulate in the subretinal cavity. Serous detachment often resolves spontaneously. is_a: HP:0000532 ! Abnormal chorioretinal morphology property_value: http://purl.org/dc/elements/1.1/date "2017-12-14T13:33:21Z" xsd:dateTime @@ -113687,7 +113730,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0025571 name: Christmas tree cataract -def: "A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree." [PMID:27190856] +def: "A type of cataract that shows a spectacular display of multiple colors that glitters with the change of incident light like an illuminated Christmas tree." [PMID:27190856] is_a: HP:0000518 ! Cataract property_value: http://purl.org/dc/elements/1.1/date "2017-12-14T13:58:00Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -114198,7 +114241,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0025630 name: Argininosuccinic aciduria def: "Increased amount of argininosuccinate in the urine." [https://orcid.org/0000-0002-8169-9049, PMID:30158522] -comment: Argininosuccinate lyase (ASL) belongs to the hepatic urea cycle detoxifying ammonia, and the citrulline-nitric oxide (NO) cycle producing NO. ASL-deficient patients present argininosuccinic aciduria characterised by hyperammonaemia, multiorgan disease and neurocognitive impairment. +comment: Argininosuccinate lyase (ASL) belongs to the hepatic urea cycle detoxifying ammonia, and the citrulline-nitric oxide (NO) cycle producing NO. ASL-deficient patients present argininosuccinic aciduria characterized by hyperammonaemia, multiorgan disease and neurocognitive impairment. is_a: HP:0033097 ! Increased urine proteinogenic amino acid derivative level property_value: http://purl.org/dc/elements/1.1/date "2019-04-09T00:55:15Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -114578,7 +114621,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0025679 name: Diskitis -def: "Inflammation of an intervertebral disc or disk space." [PMID:31082091] +def: "Inflammation of an intervertebral disk or disk space." [PMID:31082091] synonym: "Discitis" EXACT [] is_a: HP:0005108 ! Abnormal intervertebral disk morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -114762,7 +114805,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0025702 name: Type 1 schizencephaly -def: "A type of Schizencephaly in which there is a trans-mantle column of abnormal grey matter but no evidence of a CSF-containing cleft on MR imaging." [PMID:30027296, PMID:3111205] +def: "A type of Schizencephaly in which there is a trans-mantle column of abnormal gray matter but no evidence of a CSF-containing cleft on MR imaging." [PMID:30027296, PMID:3111205] synonym: "Trans-mantle schizencephaly" EXACT [] is_a: HP:0010636 ! Schizencephaly property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -114770,7 +114813,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0025703 name: Type 2 schizencephaly -def: "A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal grey matter that are opposed to each other." [PMID:30027296] +def: "A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal gray matter that are opposed to each other." [PMID:30027296] comment: This is a milder form of schizecephaly that can be asymptomatic or diagnosed in adult patients. is_a: HP:0010636 ! Schizencephaly property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -114778,7 +114821,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0025704 name: Type 3 schizencephaly -def: "A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal grey matter." [PMID:30027296] +def: "A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal gray matter." [PMID:30027296] comment: This is a severe form of schizencephaly that can manifest by refractory epilepsy, intellectual disability, varying degrees of paralysis from hemiparesis to quadriparesis. is_a: HP:0010636 ! Schizencephaly property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -115663,7 +115706,7 @@ is_a: HP:0030065 ! Primitive neuroectodermal tumor id: HP:0030071 name: Medulloepithelioma def: "A primitive neuroectodermal tumor that originates from the cells of the embryonic medullary canal." [PMID:17566306] -comment: Medulloepithelioma is a rare primitive neuroectodermal tumor of the central nervous system usually developing in childhood, displaying highly malignant behaviour, with early progression or recurrence. +comment: Medulloepithelioma is a rare primitive neuroectodermal tumor of the central nervous system usually developing in childhood, displaying highly malignant behavior, with early progression or recurrence. xref: MSH:D018242 xref: SNOMEDCT_US:39005004 xref: SNOMEDCT_US:715903004 @@ -116397,7 +116440,7 @@ is_a: HP:0100574 ! Biliary tract neoplasm id: HP:0030154 name: Gallbladder perforation def: "Rupture of the wall of the gallbladder." [https://orcid.org/0000-0002-0736-9199, PMID:22210542] -comment: Clinical presentation of a ruptured gallbladder can range from an acute generalised peritonitis to benign non-specific abdominal symptom. Gallbladder perforation is a rare but life-threatening complication of acute cholecystitis, with a reported mortality rate of 12 to 42 percent. The bile leak from a ruptured gallbladder might be contained in the extra peritoneal gallbladder fossa, and hence might not produce symptoms of peritonitis immediately. +comment: Clinical presentation of a ruptured gallbladder can range from an acute generalized peritonitis to benign non-specific abdominal symptom. Gallbladder perforation is a rare but life-threatening complication of acute cholecystitis, with a reported mortality rate of 12 to 42 percent. The bile leak from a ruptured gallbladder might be contained in the extra peritoneal gallbladder fossa, and hence might not produce symptoms of peritonitis immediately. synonym: "Gall bladder perforation" EXACT [] xref: SNOMEDCT_US:25345001 xref: UMLS:C0156215 @@ -116953,7 +116996,7 @@ id: HP:0030218 name: Punding def: "Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects." [HPO_CONTRIBUTOR:ICM_PCaroppo, PMID:15077237, PMID:25452726] xref: UMLS:C1963933 -is_a: HP:0000733 ! Abnormal repetitive mannerisms +is_a: HP:0000733 ! Motor stereotypy [Term] id: HP:0030219 @@ -117425,8 +117468,9 @@ is_a: HP:0034737 ! Abnormal erythrocyte metabolite concentration [Term] id: HP:0030272 -name: Abnormal erythrocyte enzyme level +name: Abnormal erythrocyte enzyme concentration or activity def: "An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme." [] +synonym: "Abnormal erythrocyte enzyme level" EXACT [] xref: UMLS:C4022545 is_a: HP:0001877 ! Abnormal erythrocyte morphology is_a: HP:0034684 ! Abnormal enzyme concentration or activity @@ -117610,9 +117654,10 @@ is_a: HP:0005868 ! Metaphyseal enchondromatosis [Term] id: HP:0030299 -name: Distal femoral metaphyseal abnormality +name: Abnormal distal femoral metaphysis morphology def: "An anomaly of the metaphysis of the distal femur (close to the knee)." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of wide portion of outermost thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] +synonym: "Distal femoral metaphyseal abnormality" EXACT [] xref: UMLS:C4022527 is_a: HP:0006489 ! Abnormal femoral metaphysis morphology @@ -117764,7 +117809,7 @@ is_a: HP:0000301 ! Abnormality of facial musculature [Term] id: HP:0030320 name: Increased intervertebral space -def: "An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space." [https://orcid.org/0000-0002-0736-9199] +def: "An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disk space." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022513 is_a: HP:0005108 ! Abnormal intervertebral disk morphology @@ -118006,11 +118051,9 @@ is_a: HP:0030352 ! Abnormal serum insulin-like growth factor 1 level [Term] id: HP:0030354 -name: Abnormal circulating interferon concentration -def: "Abnormal levels of interferon in the blood." [PMID:28487810] -synonym: "Abnormal serum interferon level" EXACT [] -xref: UMLS:C4072898 -is_a: HP:0011112 ! Abnormality of serum cytokine level +name: obsolete Abnormal circulating interferon concentration +is_obsolete: true +replaced_by: HP:0011116 [Term] id: HP:0030355 @@ -118018,7 +118061,7 @@ name: Abnormal circulating interferon-gamma concentration def: "Abnormal levels of interferon gamma measured in the blood circulation." [PMID:11335769] synonym: "Abnormal serum interferon-gamma level" EXACT [] xref: UMLS:C4072899 -is_a: HP:0030354 ! Abnormal circulating interferon concentration +is_a: HP:0011116 ! Abnormal circulating interferon concentration [Term] id: HP:0030356 @@ -118846,7 +118889,7 @@ is_a: HP:0100007 ! Neoplasm of the peripheral nervous system id: HP:0030451 name: Mesenteric cyst def: "A closed fluid filled sac originating from the mesentary." [https://orcid.org/0000-0002-0736-9199, PMID:24936122] -comment: A mesenteric cyst is defined as any cyst located in the mesentery; it may or may not extend into the retroperitoneum, which has a recognizable lining of endothelium or mesothelial cell. Mesenteric cyst can occur anywhere in the mesentery of gastrointestinal tract from duodenum to rectum. Mesenteric cysts can be simple or multiple, unilocular or multilocular, and they may contain hemorrhagic, serous, chylous, or infected fluid. They can range in size from a few millimetres to few cm in diameter, however, at times may be so large that it may mimic tubercular ascites. +comment: A mesenteric cyst is defined as any cyst located in the mesentery; it may or may not extend into the retroperitoneum, which has a recognizable lining of endothelium or mesothelial cell. Mesenteric cyst can occur anywhere in the mesentery of gastrointestinal tract from duodenum to rectum. Mesenteric cysts can be simple or multiple, unilocular or multilocular, and they may contain hemorrhagic, serous, chylous, or infected fluid. They can range in size from a few millimeters to few cm in diameter, however, at times may be so large that it may mimic tubercular ascites. xref: MSH:D008639 xref: SNOMEDCT_US:253802003 xref: SNOMEDCT_US:27970007 @@ -119141,7 +119184,7 @@ is_a: HP:0030495 ! Abnormality morphology of the macular vasculature [Term] id: HP:0030497 name: Macular cotton wool spot -def: "Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels." [PMID:6169833] +def: "Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fiber layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels." [PMID:6169833] comment: Cotton-wool spots (CWSs) are common retinal manifestations of many diseases including diabetes mellitus, systemic hypertension, and acquired immunodeficiency syndrome. xref: UMLS:C4072985 is_a: HP:0030500 ! Yellow/white lesions of the macula @@ -120052,7 +120095,7 @@ is_a: HP:0007754 ! Macular dystrophy [Term] id: HP:0030637 name: Congenital stationary cone dysfunction -def: "Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia." [https://orcid.org/0000-0003-0986-4123] +def: "Retinal phenotype characterized by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, color vision abnormalities, nystagmus and photophobia." [https://orcid.org/0000-0003-0986-4123] synonym: "Cone dysfunction" EXACT [] synonym: "Cone dysfunction syndrome" EXACT [] xref: UMLS:C0543968 @@ -120255,7 +120298,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0003-098 [Term] id: HP:0030664 name: Beevor's sign -def: "Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus." [PMID:2146943] +def: "Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibers predominate pulling upwards the umbilicus." [PMID:2146943] comment: Beevor's sign is said to be characteristic of a spinal cord lesion at the T10 level, but is also described inter alia in amyotrophic lateral sclerosis and in facioscapulohumeral muscular dystrophy. xref: SNOMEDCT_US:61282003 xref: UMLS:C0231616 @@ -120396,7 +120439,7 @@ name: Abnormal cardiovascular system morphology alt_id: HP:0001632 alt_id: HP:0002564 alt_id: HP:0002565 -def: "Any structural anomaly of the heart and great vessels." [] +def: "Any structural anomaly of the heart and blood vessels." [] synonym: "Abnormality of cardiovascular system morphology" EXACT [] synonym: "Cardiovascular malformations" EXACT [] xref: UMLS:C4049796 @@ -120495,7 +120538,7 @@ id: HP:0030692 name: Brain neoplasm def: "A benign or malignant neoplasm that arises from or metastasizes to the brain." [] synonym: "Brain tumor" EXACT [] -synonym: "Brain tumour" EXACT [] +synonym: "Brain tumour" EXACT uk_spelling [] xref: MSH:D001932 xref: NCIT:C2907 xref: SNOMEDCT_US:126952004 @@ -120510,7 +120553,7 @@ name: Supratentorial neoplasm def: "A benign or malignant neoplasm that occurs within the intracranial cavity above the tentorium cerebelli." [] comment: This represents a group of related tumors ranging from the relatively benign to the highly malignant. synonym: "Pineal parenchymal tumor" EXACT [] -synonym: "Pineal parenchymal tumour" EXACT [] +synonym: "Pineal parenchymal tumour" EXACT uk_spelling [] xref: MSH:D010871 xref: MSH:D015173 xref: NCIT:C3328 @@ -120624,7 +120667,7 @@ is_a: HP:0100767 ! Abnormal placenta morphology [Term] id: HP:0030715 name: Bronchial atresia -def: "A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis." [https://orcid.org/0000-0002-0003-6754] +def: "A developmental anomaly characterized by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis." [https://orcid.org/0000-0002-0003-6754] synonym: "Congenital bronchial atresia" EXACT [] xref: SNOMEDCT_US:50513008 xref: UMLS:C0265776 @@ -121195,12 +121238,9 @@ is_a: HP:0040300 ! Abnormal circulating free fatty acid concentration [Term] id: HP:0030782 -name: Abnormal circulating interleukin concentration -def: "An abnormal amount of any of the interleukins, a class of cytokines, in the circulation." [https://orcid.org/0000-0002-0736-9199, PMID:28487810] -synonym: "Abnormal serum IL level" EXACT abbreviation [] -synonym: "Abnormal serum interleukin level" EXACT [] -xref: UMLS:C4280772 -is_a: HP:0011112 ! Abnormality of serum cytokine level +name: obsolete Abnormal circulating interleukin concentration +is_obsolete: true +replaced_by: HP:0011117 [Term] id: HP:0030783 @@ -121270,7 +121310,7 @@ is_a: HP:0030787 ! Cerumen abnormality id: HP:0030790 name: Abnormal cerumen color def: "An anomolous earwax color. Earwax (cerumen) is usually light to dark brown or orange in color." [https://orcid.org/0000-0002-0736-9199] -synonym: "Abnormal cerumen colour" EXACT [] +synonym: "Abnormal cerumen color" EXACT [] synonym: "Abnormal cerumen pigmentation" EXACT [] xref: UMLS:C4280768 is_a: HP:0030787 ! Cerumen abnormality @@ -121474,7 +121514,7 @@ id: HP:0030814 name: Orange discolored tonsils def: "A phenomenon of orange colored oral tonsils. This feature is characteristic of Tangier disease and illustrated will by Figure 1 of PMID:19470903." [https://orcid.org/0000-0002-0736-9199, PMID:19470903] synonym: "Orange colored tonsils" EXACT [] -synonym: "Orange coloured tonsils" EXACT [] +synonym: "Orange coloured tonsils" EXACT uk_spelling [] synonym: "Orange discoloured tonsils" EXACT uk_spelling [] synonym: "Orange tonsils" EXACT [] synonym: "Tonsils with orange deposits" EXACT [] @@ -121998,7 +122038,7 @@ is_a: HP:0003312 ! Abnormal form of the vertebral bodies id: HP:0030871 name: Facet joint arthrosis def: "Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray." [https://orcid.org/0000-0002-0736-9199] -comment: Facet joint osteoarthritis (FJ OA) is intimately linked to degenerative disc disease, which affects structures in the anterior aspect of the vertebral column. FJ OA and degenerative disc disease are both common causes of back and neck pain. +comment: Facet joint osteoarthritis (FJ OA) is intimately linked to degenerative disk disease, which affects structures in the anterior aspect of the vertebral column. FJ OA and degenerative disk disease are both common causes of back and neck pain. synonym: "Facet arthritis" EXACT [] xref: UMLS:C4280734 is_a: HP:0030870 ! Abnormality of spinal facet joint @@ -122350,7 +122390,7 @@ id: HP:0030915 name: Cerebellar edema def: "Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum." [] comment: Cerebellar edama can manifest on magnetic resonance imaging as hyperintense T2 and FLAIR signals, which do not show restricted diffusion. -synonym: "Cerebellar oedema" EXACT [] +synonym: "Cerebellar edema" EXACT [] synonym: "Edema of the cerebellum" EXACT [] synonym: "Oedema of the cerebellum" EXACT [] is_a: HP:0001317 ! Abnormal cerebellum morphology @@ -122879,7 +122919,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0030984 name: Abnormal serum bile acid concentration def: "A deviation from the normal concentration of serum bile acid concentration." [] -comment: There are two major bile acids, cholic acid and chenodeoxycholic acid, which are synthesised in the hepatocyte by the cytochrome P450-mediated oxidation of cholesterol. These bile acids are secreted into the biliary canaliculi as sodium salts and conjugated with glycine, taurine, sulphate or glucuronic acid, and stored in the gall bladder until excreted into the intestinal lumen in response to a fatty meal. Enterohepatic circulation of bile salts is associated with conversion of the primary bile salts to secondary bile salts by bacerial enyzmes. The total bile pool of about 4 grams is recirculated about 5 to 10 times per day. Because serum bile salt concentration can increase by two to five times after a meal it is important that bile salts are measured while the subject is fasting. +comment: There are two major bile acids, cholic acid and chenodeoxycholic acid, which are synthesized in the hepatocyte by the cytochrome P450-mediated oxidation of cholesterol. These bile acids are secreted into the biliary canaliculi as sodium salts and conjugated with glycine, taurine, sulfate or glucuronic acid, and stored in the gall bladder until excreted into the intestinal lumen in response to a fatty meal. Enterohepatic circulation of bile salts is associated with conversion of the primary bile salts to secondary bile salts by bacerial enyzmes. The total bile pool of about 4 grams is recirculated about 5 to 10 times per day. Because serum bile salt concentration can increase by two to five times after a meal it is important that bile salts are measured while the subject is fasting. is_a: HP:0010996 ! Abnormal circulating monocarboxylic acid concentration property_value: http://purl.org/dc/elements/1.1/date "2017-05-13T12:45:39Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -123904,10 +123944,11 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0031100 -name: Decreased inhibin B level -def: "A reduced concentration of inhibin B in the blood." [PMID:11720872] +name: Decreased circulating inhibin B concentration +def: "The concentration of inhibin B in the blood circulation is below the lower limit of normal." [PMID:11720872] comment: Inhibin B, a dimer with an alpha and a betaB subunit, is produced exclusively by the testis and controls FSH secretion via a negative feedback mechanism. -is_a: HP:0031099 ! Abnormal circulating inhibin level +synonym: "277000" EXACT [] +is_a: HP:0430147 ! Abnormal circulating inhibin B concentration property_value: http://purl.org/dc/elements/1.1/date "2017-05-30T02:19:26Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -124182,11 +124223,11 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0031138 -name: Abnormal B-type natriuretic peptide concentration +name: Abnormal circulating B-type natriuretic peptide concentration def: "A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP)." [PMID:22145138] comment: Increased plasma levels of circulating natriuretic peptides (NP) have been described in patients with congestive heart failure and are directly proportional to the severity of congestive heart failure as classified by the New York Heart Association criteria. synonym: "Abnormal B-type natriuretic peptide level" EXACT [] -is_a: HP:0010876 ! Abnormal circulating protein concentration +is_a: HP:6000692 ! Abnormal circulating atrial natriuretic peptide pro-hormone concentration property_value: http://purl.org/dc/elements/1.1/date "2017-06-10T18:39:37Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -124541,7 +124582,7 @@ id: HP:0031185 name: Increased circulating NT-proBNP concentration def: "An elevated level of circulating N-terminal part of the prohormone of B-type natriuretic peptide (BNP)." [] synonym: "Increased NT-proBNP level" EXACT [] -is_a: HP:0031138 ! Abnormal B-type natriuretic peptide concentration +is_a: HP:0031138 ! Abnormal circulating B-type natriuretic peptide concentration property_value: http://purl.org/dc/elements/1.1/date "2017-06-21T10:30:21Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -124695,7 +124736,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0031203 name: Fatty casts -def: "A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses." [PMID:26079824] +def: "A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarized light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses." [PMID:26079824] comment: The presence of fatty casts in urine may be associated with heavy proteinuria in patients with nephrotic syndrome. is_a: HP:0031199 ! Acellular urinary casts property_value: http://purl.org/dc/elements/1.1/date "2017-06-27T11:10:06Z" xsd:dateTime @@ -128275,7 +128316,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0031606 name: Retinal cotton wool spot -def: "Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels." [PMID:6169833] +def: "Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fiber layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels." [PMID:6169833] is_a: HP:0030506 ! Yellow/white lesions of the retina property_value: http://purl.org/dc/elements/1.1/date "2017-12-02T11:22:46Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -128310,7 +128351,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0031611 name: Sub-inner limiting membrane hemorrhage def: "A type of intraretinal hemorrhage that is located in the superficial retina between the inner limiting membrane and the retinal nerve fiber layer." [PMID:17229799] -comment: Preretinal hemorrhages usually occur at the interface between the posterior hyaloid and inner limiting membrane (ILM). Less frequently, they are located in the superficial retina between the ILM and the retinal nerve fibre layer. These sharply demarcated, dome-shaped hemorrhages show a predilection for the macular region and consequently lead to severe visual impairment. +comment: Preretinal hemorrhages usually occur at the interface between the posterior hyaloid and inner limiting membrane (ILM). Less frequently, they are located in the superficial retina between the ILM and the retinal nerve fiber layer. These sharply demarcated, dome-shaped hemorrhages show a predilection for the macular region and consequently lead to severe visual impairment. synonym: "Sub-ILM haemorrhage" EXACT uk_spelling [] synonym: "Sub-ILM hemorrhage" EXACT abbreviation [] synonym: "Sub-inner limiting membrane haemorrhage" EXACT uk_spelling [] @@ -128793,7 +128834,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0031671 name: Typical atrial flutter -def: "Typical atrial flutter is an organised atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative." [PMID:28835836] +def: "Typical atrial flutter is an organized atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative." [PMID:28835836] is_a: HP:0004749 ! Atrial flutter property_value: http://purl.org/dc/elements/1.1/date "2017-12-17T16:44:25Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -129917,7 +129958,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0031805 name: Intraretinal hemorrhage -def: "A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal haemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina." [https://orcid.org/0000-0003-0986-4123] +def: "A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal hemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina." [https://orcid.org/0000-0003-0986-4123] comment: Although the fundoscopic appearence of an intraretinal hemorrhage can exibit significant variability it can typically be distinguished from a subretinal hemorrhage (occuring between the neurosensory retina and the RPE) or a sub-ILM hemorrhage (occuring between the internal limiting membrane and the neurosensory retina). synonym: "Intraretinal haemorrhage" EXACT uk_spelling [] is_a: HP:0000573 ! Retinal hemorrhage @@ -130306,6 +130347,7 @@ def: "A break or crush injury of the thigh bone (femur)." [] synonym: "Femoral fracture" EXACT [] xref: MSH:D005264 is_a: HP:0002823 ! Abnormal femur morphology +is_a: HP:0003084 ! Fractures of the long bones property_value: http://purl.org/dc/elements/1.1/date "2018-05-05T15:37:43Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -130448,7 +130490,7 @@ id: HP:0031863 name: Bloodstream infectious agent def: "The presence of an infectious agent in the blood circulation." [] comment: Infectious agents can be classified into five groups: viruses, bacteria, fungi, protozoa, and helminths (worms). -is_a: HP:0430030 ! Positive infectious agent test +is_a: HP:0430150 ! Positive blood infectious agent test property_value: http://purl.org/dc/elements/1.1/date "2018-05-05T21:12:23Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -130945,7 +130987,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0031924 name: Rope sign def: "The presence of linear erythematous palpable cords, often on the lateral trunk." [PMID:16935918, PMID:26131871] -comment: Its associations include connective tissue disease (particularly SLE), rheumatoid arthritis, autoimmune thyroiditis, carcinomas and drug reactions. Histology reveals an interstitial and palisading granulomatous dermatitis associated with piecemeal fragmentation of collagen and elastic fibres +comment: Its associations include connective tissue disease (particularly SLE), rheumatoid arthritis, autoimmune thyroiditis, carcinomas and drug reactions. Histology reveals an interstitial and palisading granulomatous dermatitis associated with piecemeal fragmentation of collagen and elastic fibers is_a: HP:0011355 ! Localized skin lesion property_value: http://purl.org/dc/elements/1.1/date "2018-07-04T12:31:32Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -131008,7 +131050,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0031931 name: Ocular flutter -def: "Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behaviour and its occurrence may be favoured by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation." [https://orcid.org/0000-0003-0986-4123, PMID:17314191] +def: "Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behavior and its occurrence may be favored by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation." [https://orcid.org/0000-0003-0986-4123, PMID:17314191] is_a: HP:0012547 ! Abnormal involuntary eye movements is_a: HP:0032104 ! Saccadic oscillation property_value: http://purl.org/dc/elements/1.1/date "2018-07-04T20:01:21Z" xsd:dateTime @@ -131369,8 +131411,8 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0031973 name: Increased vertical cup-to-disc ratio -def: "An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc." [https://orcid.org/0000-0003-0986-4123] -comment: Primary open angle glaucoma is causing a progressive optic neuropathy and its development is associated with loss of tissue in the neuroretinal rim of the optic disc and that will lead to increase in the size of the optic cup. Clinical estimation of the size of the cup using either the slit lamb or a simple imaging modalities such as fundus images is a significant clinical parameter and remains the simplest and most frequently performed assessment of the optic disc in the diagnosis and follows up the progression of the glaucoma suspect. The estimation of the size of the cup is usually made by comparison with the size of the disc and given as the ratio of the vertical and horizontal diameter of the cup to the vertical and horizontal diameter. +def: "An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disk." [https://orcid.org/0000-0003-0986-4123] +comment: Primary open angle glaucoma is causing a progressive optic neuropathy and its development is associated with loss of tissue in the neuroretinal rim of the optic disc and that will lead to increase in the size of the optic cup. Clinical estimation of the size of the cup using either the slit lamb or a simple imaging modalities such as fundus images is a significant clinical parameter and remains the simplest and most frequently performed assessment of the optic disc in the diagnosis and follows up the progression of the glaucoma suspect. The estimation of the size of the cup is usually made by comparison with the size of the disk and given as the ratio of the vertical and horizontal diameter of the cup to the vertical and horizontal diameter. is_a: HP:0012796 ! Increased cup-to-disc ratio property_value: http://purl.org/dc/elements/1.1/date "2018-07-08T00:08:21Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -131378,7 +131420,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0031974 name: Increased vertical cup-to-disc ratio - 0.6 -def: "Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.6 (The normal cup-to-disc ratio is 0.3)." [https://orcid.org/0000-0003-0986-4123] +def: "Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.6 (The normal cup-to-disc ratio is 0.3)." [https://orcid.org/0000-0003-0986-4123] is_a: HP:0031973 ! Increased vertical cup-to-disc ratio property_value: http://purl.org/dc/elements/1.1/date "2018-07-08T00:13:08Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -131386,7 +131428,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0031975 name: Increased vertical cup-to-disc ratio - 0.7 -def: "Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.7 (The normal cup-to-disc ratio is 0.3)." [https://orcid.org/0000-0003-0986-4123] +def: "Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.7 (The normal cup-to-disc ratio is 0.3)." [https://orcid.org/0000-0003-0986-4123] is_a: HP:0031973 ! Increased vertical cup-to-disc ratio property_value: http://purl.org/dc/elements/1.1/date "2018-07-08T00:15:02Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -131394,7 +131436,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0031976 name: Increased vertical cup-to-disc ratio - 0.8 -def: "Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3)." [https://orcid.org/0000-0003-0986-4123] +def: "Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.8 (The normal cup-to-disc ratio is 0.3)." [https://orcid.org/0000-0003-0986-4123] is_a: HP:0031973 ! Increased vertical cup-to-disc ratio property_value: http://purl.org/dc/elements/1.1/date "2018-07-08T00:15:07Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -131402,7 +131444,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0031977 name: Increased vertical cup-to-disc ratio - 0.9 -def: "Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.9 (The normal cup-to-disc ratio is 0.3)." [https://orcid.org/0000-0003-0986-4123] +def: "Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.9 (The normal cup-to-disc ratio is 0.3)." [https://orcid.org/0000-0003-0986-4123] is_a: HP:0031973 ! Increased vertical cup-to-disc ratio property_value: http://purl.org/dc/elements/1.1/date "2018-07-08T00:15:12Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -131410,7 +131452,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0031978 name: Increased vertical cup-to-disc ratio - 1.0 -def: "Ratio of the height of the cup of the optic nerve head to the height of the disc is 1.0 (The normal cup-to-disc ratio is 0.3)." [https://orcid.org/0000-0003-0986-4123] +def: "Ratio of the height of the cup of the optic nerve head to the height of the disk is 1.0 (The normal cup-to-disc ratio is 0.3)." [https://orcid.org/0000-0003-0986-4123] is_a: HP:0031973 ! Increased vertical cup-to-disc ratio property_value: http://purl.org/dc/elements/1.1/date "2018-07-08T00:15:23Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -131831,7 +131873,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0032025 name: Reduced circulating alpha-1-antitrypsin concentration -def: "A reduced concentration or activity of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs." [PMID:24507836] +def: "A reduced concentration or activity of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesized and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs." [PMID:24507836] synonym: "Reduced serum alpha-1-antitrypsin" EXACT [] is_a: HP:0010876 ! Abnormal circulating protein concentration property_value: http://purl.org/dc/elements/1.1/date "2018-09-01T14:16:39Z" xsd:dateTime @@ -131849,7 +131891,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0032027 name: Retinal dots -def: "Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size." [https://orcid.org/0000-0003-0986-4123] +def: "Yellow, white or grayish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size." [https://orcid.org/0000-0003-0986-4123] is_a: HP:0030506 ! Yellow/white lesions of the retina property_value: http://purl.org/dc/elements/1.1/date "2018-09-01T14:43:45Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -131857,7 +131899,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0032028 name: Macular dots -def: "Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size." [https://orcid.org/0000-0003-0986-4123] +def: "Yellow, white or grayish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size." [https://orcid.org/0000-0003-0986-4123] is_a: HP:0030500 ! Yellow/white lesions of the macula property_value: http://purl.org/dc/elements/1.1/date "2018-09-01T14:44:49Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -131873,7 +131915,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0032030 name: Lateral canthal tendon laxity -def: "Laxity of the tendon stabilising the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed." [https://orcid.org/0000-0003-0986-4123] +def: "Laxity of the tendon stabilizing the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed." [https://orcid.org/0000-0003-0986-4123] is_a: HP:0031880 ! Eyelid laxity property_value: http://purl.org/dc/elements/1.1/date "2018-09-01T14:49:57Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -131881,7 +131923,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0032031 name: Medial canthal tendon laxity -def: "Laxity of the tendon stabilising the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally." [https://orcid.org/0000-0003-0986-4123] +def: "Laxity of the tendon stabilizing the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally." [https://orcid.org/0000-0003-0986-4123] is_a: HP:0031880 ! Eyelid laxity property_value: http://purl.org/dc/elements/1.1/date "2018-09-01T14:50:46Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -131897,7 +131939,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0032033 name: Vertical eyelid laxity -def: "Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilising structures (e.g. lower lid retractors) or tarsal atrophy are often present." [https://orcid.org/0000-0003-0986-4123] +def: "Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilizing structures (e.g. lower lid retractors) or tarsal atrophy are often present." [https://orcid.org/0000-0003-0986-4123] is_a: HP:0031880 ! Eyelid laxity property_value: http://purl.org/dc/elements/1.1/date "2018-09-01T14:52:17Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -132074,7 +132116,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0032055 name: Focal cortical dysplasia type IIIa -def: "A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organisation (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis)." [http://www.wikidata.org/entity/Q90573458, PMID:21219302] +def: "A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organization (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis)." [http://www.wikidata.org/entity/Q90573458, PMID:21219302] is_a: HP:0032054 ! Focal cortical dysplasia type III property_value: http://purl.org/dc/elements/1.1/date "2018-09-16T11:16:43Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -133049,8 +133091,8 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0032170 name: Severe varicella zoster infection -def: "An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterised by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella." [PMID:21748081, PMID:23248376] -comment: Varicella-zoster virus (VZV) is one of eight herpes viruses known to cause human infection and is distributed worldwide. Varicella zoster infections are considered to be mild and ubiquitous infections predominantly affecting the paediatric population. However, in adults and in specific groups of patients, such as those who are immunosuppressed, varicella infections can be fulminant and life threatening. +def: "An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterized by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella." [PMID:21748081, PMID:23248376] +comment: Varicella-zoster virus (VZV) is one of eight herpes viruses known to cause human infection and is distributed worldwide. Varicella zoster infections are considered to be mild and ubiquitous infections predominantly affecting the pediatric population. However, in adults and in specific groups of patients, such as those who are immunosuppressed, varicella infections can be fulminant and life threatening. is_a: HP:0031691 ! Severe viral infection property_value: http://purl.org/dc/elements/1.1/date "2018-12-16T15:12:18Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -133330,7 +133372,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0032202 name: Vulvar intraepithelial neoplasia -def: "Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognised: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC." [NCIT:C4756, PMID:30187167] +def: "Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognized: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC." [NCIT:C4756, PMID:30187167] is_a: HP:0030416 ! Vulvar neoplasm property_value: http://purl.org/dc/elements/1.1/date "2019-01-20T13:31:43Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -133358,7 +133400,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0032205 name: Increased circulating galectin-3 level def: "An increased circulation of galectin-3 in the blood circulation." [PMID:24065222] -comment: Galectin-3 is a member of the family of beta-galactoside-binding endogenous lectins. It is a multifunctional factor that binds to distinct ligands and triggers production of matrix metalloproteinases, and thereby plays a role in cardiac fibrosis and remodelling. +comment: Galectin-3 is a member of the family of beta-galactoside-binding endogenous lectins. It is a multifunctional factor that binds to distinct ligands and triggers production of matrix metalloproteinases, and thereby plays a role in cardiac fibrosis and remodeling. is_a: HP:0010876 ! Abnormal circulating protein concentration property_value: http://purl.org/dc/elements/1.1/date "2019-01-20T15:21:52Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -133760,7 +133802,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0032252 name: Granuloma def: "A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis." [PMID:10908370, PMID:11168676, PMID:937513] -comment: Granulomas vary considerably in their degree of complexity, physical size and organization. Not surprisingly, their classification has attracted much attention, and a numbers of schemes have been described. The cornerstone of the granulomatous response, however, is the predominant involvement of mononuclear phagocytes. As granulomas develop, tissue-resident, as well as inflammatory mononuclear phagocytes become intimately acquainted, and these cells may develop highly differentiated epithelioid cell characteristics. In many cases, elegant multinucleate populations can be seen, distinct from the syncytia formed after viral infection as evident by their extended life-span. Accumulating lymphocytes, mainly T cells, contribute to the developing microarchitecture of the granuloma, often with characteristic patterns of subset organization relative to the core of mononuclear phagocytes and to each other. B lymphocytes, plasma cells, NK cells and neutrophils may all be present, though a relative paucity of neutrophils delineates these sites of inflammation from those associated with necrosis. At its extreme, the granuloma may serve as the focus for irreversible fibrotic reactions, but, even in less dramatic cases, a substantive degree of local tissue remodelling occurs. +comment: Granulomas vary considerably in their degree of complexity, physical size and organization. Not surprisingly, their classification has attracted much attention, and a numbers of schemes have been described. The cornerstone of the granulomatous response, however, is the predominant involvement of mononuclear phagocytes. As granulomas develop, tissue-resident, as well as inflammatory mononuclear phagocytes become intimately acquainted, and these cells may develop highly differentiated epithelioid cell characteristics. In many cases, elegant multinucleate populations can be seen, distinct from the syncytia formed after viral infection as evident by their extended life-span. Accumulating lymphocytes, mainly T cells, contribute to the developing microarchitecture of the granuloma, often with characteristic patterns of subset organization relative to the core of mononuclear phagocytes and to each other. B lymphocytes, plasma cells, NK cells and neutrophils may all be present, though a relative paucity of neutrophils delineates these sites of inflammation from those associated with necrosis. At its extreme, the granuloma may serve as the focus for irreversible fibrotic reactions, but, even in less dramatic cases, a substantive degree of local tissue remodeling occurs. is_a: HP:0032251 ! Abnormal immune system morphology property_value: http://purl.org/dc/elements/1.1/date "2019-01-27T16:44:42Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -133940,12 +133982,11 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0032272 -name: Elevated urinary N-acetylaspartic acid level -def: "Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry." [PMID:8412017] -comment: Although NAA concentration is also elevated in the blood and cerebrospinal fluid (CSF) of children with neonatal/infantile (severe) Canavan disease, elevated concentration of NAA in urine is sufficient for diagnosis of affected individuals. -is_a: HP:0033097 ! Increased urine proteinogenic amino acid derivative level +name: obsolete Elevated urinary N-acetylaspartic acid level property_value: http://purl.org/dc/elements/1.1/date "2019-01-27T21:01:43Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 +is_obsolete: true +replaced_by: HP:0034649 [Term] id: HP:0032273 @@ -134985,7 +135026,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0032398 name: Dysgyria def: "An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation." [http://www.wikidata.org/entity/Q90573458, PMID:26130693, PMID:26564436, PMID:32895508] -comment: Dysgyria translates as abnormal gyration and can therefore be applied to almost every type of MCD (malformations of cortical development). However, this term was introduced to describe cortical malformations that do not meet classic features of any of the abovementioned well-established MCD types. Dysgyria describes a cortex of variable thickness and an abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation (for example, obliquely oriented sulci directed radially towards the centre of the cerebrum and narrow gyri separated by abnormally deep or shallow sulci). In the vast majority of cases, the term dysgyria describes an abnormal non-lissencephaly, non-polymicrogyria cortex within the spectrum of tubulinopathies. +comment: Dysgyria translates as abnormal gyration and can therefore be applied to almost every type of MCD (malformations of cortical development). However, this term was introduced to describe cortical malformations that do not meet classic features of any of the abovementioned well-established MCD types. Dysgyria describes a cortex of variable thickness and an abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation (for example, obliquely oriented sulci directed radially towards the center of the cerebrum and narrow gyri separated by abnormally deep or shallow sulci). In the vast majority of cases, the term dysgyria describes an abnormal non-lissencephaly, non-polymicrogyria cortex within the spectrum of tubulinopathies. is_a: HP:0002269 ! Abnormality of neuronal migration is_a: HP:0002536 ! Abnormal cortical gyration property_value: http://purl.org/dc/elements/1.1/date "2019-02-24T17:04:20Z" xsd:dateTime @@ -135488,7 +135529,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0032456 name: Unlayered lissencephaly -def: "A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and grey matter." [http://www.wikidata.org/entity/Q90573458] +def: "A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and gray matter." [http://www.wikidata.org/entity/Q90573458] is_a: HP:0001339 ! Lissencephaly property_value: http://purl.org/dc/elements/1.1/date "2019-03-08T11:17:49Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -135634,7 +135675,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0032472 name: Abnormal urine urobilinogen level def: "An abnormal concentration of urobilinogen in the urine." [] -is_a: HP:0033354 ! Abnormal urine metabolite level +is_a: HP:6000531 ! Abnormal urinary organic compound level property_value: http://purl.org/dc/elements/1.1/date "2019-04-09T11:53:12Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -136074,7 +136115,7 @@ def: "Involuntary, tic-like movements consisted of crossing both arms across the comment: This is a characteristic behavior in Smith-Magenis syndrome. synonym: "Spasmodic upper-body squeeze" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] is_a: HP:4000079 ! Sensory seeking -is_a: HP:5200019 ! Abnormal movements of the whole body +is_a: HP:5200019 ! Stereotypic whole-body movements property_value: http://purl.org/dc/elements/1.1/date "2019-05-26T11:19:58Z" xsd:dateTime property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 @@ -136153,10 +136194,13 @@ replaced_by: HP:0410053 [Term] id: HP:0032530 -name: Decreased succinic semialdehyde dehydrogenase level +name: Decreased tissue succinic semialdehyde dehydrogenase activity def: "Reduced level of succinic semialdehyde dehydrogenase (SSADH)." [PMID:25485164] comment: Succinic semialdehyde dehydrogenase catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA). -is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity +synonym: "Decreased succinic semialdehyde dehydrogenase activity in cultured fibroblasts" EXACT [] +synonym: "Decreased succinic semialdehyde dehydrogenase leukocyte activity" EXACT [] +synonym: "Decreased succinic semialdehyde dehydrogenase level" EXACT [] +is_a: HP:6000231 ! Abnormal tissue enzyme concentration or activity property_value: http://purl.org/dc/elements/1.1/date "2019-05-27T12:55:45Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -137238,7 +137282,7 @@ synonym: "Focal-onset seizure evolving into generalized convulsive status epilep synonym: "Partial onset seizure evolving into convulsive status epilepticus" EXACT [] synonym: "Partial-onset seizure evolving into convulsive status epilepticus" EXACT [] synonym: "Secondarily generalised convulsive status epilepticus" EXACT uk_spelling [] -synonym: "Secondarily generalised tonic-clonic status epilepticus" EXACT [] +synonym: "Secondarily generalised tonic-clonic status epilepticus" EXACT uk_spelling [] synonym: "Secondarily generalized convulsive status epilepticus" EXACT [] synonym: "Secondarily generalized tonic-clonic status epilepticus" EXACT [] is_a: HP:0007334 ! Bilateral tonic-clonic seizure with focal onset @@ -137374,7 +137418,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0032679 name: Focal non-motor seizure -def: "A type of focal-onset seizure characterized by non-motor signs or symptoms (or behaviour arrest) as its initial semiological manifestation." [PMID:28276060, PMID:28276064] +def: "A type of focal-onset seizure characterized by non-motor signs or symptoms (or behavior arrest) as its initial semiological manifestation." [PMID:28276060, PMID:28276064] comment: Non-motor terms correspond to the earliest prominent sign or symptom. synonym: "Focal seizure without motor onset" EXACT [] synonym: "Partial seizure without motor onset" EXACT [] @@ -137846,7 +137890,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0032736 name: Focal emotional seizure with anger -def: "Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behaviour." [PMID:28276060, PMID:28276064] +def: "Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behavior." [PMID:28276060, PMID:28276064] comment: This seizure type localizes to prefrontal or mesial temporal regions of the brain. is_a: HP:0025613 ! Focal emotional seizure property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -138003,7 +138047,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0032755 name: Focal impaired awareness autonomic seizure alt_id: HP:0011155 -def: "A focal autonomic seizure characterised by impaired awareness at some point within the seizure." [PMID:20196795, PMID:23739099, PMID:28276060, PMID:28276064] +def: "A focal autonomic seizure characterized by impaired awareness at some point within the seizure." [PMID:20196795, PMID:23739099, PMID:28276060, PMID:28276064] synonym: "Focal autonomic seizure with altered responsiveness" EXACT [] synonym: "Localised autonomic seizure with altered responsiveness" EXACT uk_spelling [] synonym: "Localized autonomic seizure with altered responsiveness" EXACT [] @@ -138082,7 +138126,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0032764 name: Focal autonomic seizure with erection -def: "A type of focal autonomic seizure characterised by penile erection as the initial semiological feature." [PMID:28276060] +def: "A type of focal autonomic seizure characterized by penile erection as the initial semiological feature." [PMID:28276060] is_a: HP:0011154 ! Focal autonomic seizure property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -138278,7 +138322,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0032789 name: Focal aware behavior arrest seizure -def: "A focal behavior arrest seizure characterised by retained awareness throughout the seizure." [PMID:20196795, PMID:23739099, PMID:28276060, PMID:28276064] +def: "A focal behavior arrest seizure characterized by retained awareness throughout the seizure." [PMID:20196795, PMID:23739099, PMID:28276060, PMID:28276064] synonym: "Focal aware behaviour arrest seizure" EXACT uk_spelling [] is_a: HP:0011173 ! Focal behavior arrest seizure is_a: HP:0032682 ! Focal aware non-motor seizure @@ -138287,7 +138331,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0032790 name: Focal impaired awareness behavior arrest seizure -def: "A focal behavior arrest seizure characterised by impaired awareness at some point during the seizure." [PMID:20196795, PMID:23739099, PMID:28276060, PMID:28276064] +def: "A focal behavior arrest seizure characterized by impaired awareness at some point during the seizure." [PMID:20196795, PMID:23739099, PMID:28276060, PMID:28276064] synonym: "Focal impaired awareness behaviour arrest seizure" EXACT uk_spelling [] is_a: HP:0011146 ! Dialeptic seizure is_a: HP:0011173 ! Focal behavior arrest seizure @@ -138305,7 +138349,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0032792 name: Tonic seizure -def: "A tonic seizure is a type of motor seizure characterised by unilateral or bilateral limb stiffening or elevation, often with neck stiffening." [PMID:11580774] +def: "A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening." [PMID:11580774] comment: This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding tonic seizures when the onset is not known. The tonic contraction of muscles can result in a tremor, not to be confused with a clonic phase. This term does not apply to seizures with a tonic phase followed a clonic phase, see bilateral tonic-clonic seizure. is_a: HP:0020219 ! Motor seizure property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -138321,7 +138365,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0032794 name: Myoclonic seizure -def: "A myoclonic seizure is a type of motor seizure characterised by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus." [PMID:11580774] +def: "A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus." [PMID:11580774] comment: This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding myoclonic seizures when the onset is not known. is_a: HP:0020219 ! Motor seizure property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -138329,7 +138373,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0032795 name: Generalized myoclonic-tonic-clonic seizure -def: "A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterised by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus." [PMID:28276060, PMID:28276064] +def: "A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterized by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus." [PMID:28276060, PMID:28276064] synonym: "Generalised myoclonic-tonic-clonic seizure" EXACT [] synonym: "Generalised onset myoclonic-tonic-clonic seizure" EXACT [] synonym: "generalised onset myoclonic-tonic-clonic seizure" EXACT uk_spelling [] @@ -138559,7 +138603,8 @@ name: Neonatal electro-clinical seizure with behavior arrest def: "Neonatal electro-clinical non-motor seizure with behavior arrest is a type of neonatal electro-clinical seizure characterized by an arrest of activities, freezing, immobilization, with or without apnea and/or other autonomic manifestations." [PMID:28276064] comment: May be focal and/or followed by apnea, other autonomic manifestations and motor seizures. synonym: "Neonatal electro-clinical seizure with behaviour arrest" EXACT uk_spelling [] -synonym: "Neonatal electroclinical seizure with behavioural arrest" EXACT [] +synonym: "Neonatal electroclinical seizure with behavioral arrest" EXACT [] +synonym: "Neonatal electroclinical seizure with behavioural arrest" EXACT uk_spelling [] is_a: HP:0032812 ! Neonatal electro-clinical non-motor seizure property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -138574,7 +138619,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0032825 name: Neonatal electro-clinical sequential seizure def: "Neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic signs, often changing lateralization within or between seizures." [PMID:28276064] -comment: No predominant feature can be determined, instead the seizure presents with a variety of clinical signs. Several features typically occur in a sequence, often with changing lateralization within or between seizures. Most commonly seen in epilepsies of genetic aetiology. +comment: No predominant feature can be determined, instead the seizure presents with a variety of clinical signs. Several features typically occur in a sequence, often with changing lateralization within or between seizures. Most commonly seen in epilepsies of genetic etiology. synonym: "Neonatal electroclinical sequential seizure" EXACT [] is_a: HP:0032809 ! Neonatal electro-clinical seizure property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -138777,7 +138822,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0032851 name: Focal aware sensory seizure with visual features -def: "A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis." [PMID:28276060] +def: "A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis." [PMID:28276060] comment: More complex visual hallucinations such as seeing formed images are considered a focal cognitive seizure. Focal sensory visual seizures arise in the occipital lobe. is_a: HP:0011165 ! Focal sensory seizure with visual features is_a: HP:0032754 ! Focal aware sensory seizure @@ -139400,7 +139445,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0032928 name: Elevated CSF neurofilament light chain concentration -def: "Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large calibre myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases." [PMID:31182505] +def: "Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large caliber myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases." [PMID:31182505] synonym: "Elevated CSF neurofilament light chain" EXACT [] is_a: HP:0025456 ! Abnormal CSF protein concentration property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -139709,7 +139754,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0032964 name: Uric acid crystalluria def: "The presence of uric acid crystals in the urine." [PMID:25045326, PMID:8671802] -comment: Uric acid crystals are very pleiomorphic, but the rhomboidal shape is the most frequent. Distinctive morphological features are the amber colour and the constant polychromatic birefringence. These crystals can be found both in normal subjects as well as in stone formers. Moreover, they can be found, alone or with amorphous urates in patients with increased purine metabolism. +comment: Uric acid crystals are very pleiomorphic, but the rhomboidal shape is the most frequent. Distinctive morphological features are the amber color and the constant polychromatic birefringence. These crystals can be found both in normal subjects as well as in stone formers. Moreover, they can be found, alone or with amorphous urates in patients with increased purine metabolism. is_a: HP:0020074 ! Crystalluria property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -139871,7 +139916,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0032985 name: Dust particle inclusion in alveolar macrophages def: "Accumulation of inhaled, nondigestable particles in macrophages." [https://orcid.org/0000-0003-0113-912X, ISBN:0412792702, PMID:3740951] -comment: This can be recognized in May-Grunwald-Giemsa routine stains. Rarey and for special indications, BAL can be further analysed to identify and quantify dust exposure. X-ray microprobe analysis identified particles which related to the known exposures, superimposed on a background of other particles related to smoking (kaolinite and mica) or to the general environment (silicon, titanium, and iron). Inhaled dust can follow in fibrous tissue and scarring which follow in impaired lung function. +comment: This can be recognized in May-Grunwald-Giemsa routine stains. Rarey and for special indications, BAL can be further analyzed to identify and quantify dust exposure. X-ray microprobe analysis identified particles which related to the known exposures, superimposed on a background of other particles related to smoking (kaolinite and mica) or to the general environment (silicon, titanium, and iron). Inhaled dust can follow in fibrous tissue and scarring which follow in impaired lung function. is_a: HP:0032984 ! Abnormal alveolar macrophage morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -140054,7 +140099,7 @@ def: "Abnormally increased width of the Z-disk of the sarcomere, resulting from comment: The sarcomere is the basic contractile unit of striated muscle, and is composed of highly ordered thin (actin) filaments and thick (myosin) filaments. The cytoskeleton surrounding this elegant contractile molecular machinery is required as a scaffold to ensure efficiency of contraction. Longitudinally, sarcomeres are connected by Z-disk lattices that anchor thin filaments and transmit force along the myofibril. The strikingly regular lateral alignment of Z-disks between adjacent myofibrils ensures that during contraction myofibrils change length in unison, thus preventing damage to membrane systems that span between myofibrils and that are responsible for activating and relaxing the sarcomeres (T-tubules, sarcoplasmic reticulum). synonym: "Increased Z-disk width" EXACT [] synonym: "Widened z-discs" EXACT [] -is_a: HP:0020202 ! Abnormal Z disc morphology +is_a: HP:0020202 ! Abnormal Z disk morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] @@ -140474,7 +140519,7 @@ id: HP:0033057 name: Decreased circulating terminal complement component concentration def: "Concentration below the lower limit of normal of one or more components of the the terminal membrane attack complex (MAC) portion of complement, which represents the lytic, pore-forming part of the system. The MAC comprises seven components: C5b, C6, C7, C8 (a heterotrimer composed of C8alpha, C8beta and C8gamma) and multiple copies of C9." [PMID:26841934] synonym: "Decreased serum terminal complement component" EXACT [] -is_a: HP:0004431 ! Complement deficiency +is_a: HP:0004431 ! Reduced circulating complement concentration property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] @@ -140564,7 +140609,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0033068 name: Medication crystalluria -def: "A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber colour. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance." [PMID:8671802] +def: "A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber color. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance." [PMID:8671802] is_a: HP:0020074 ! Crystalluria property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -141041,7 +141086,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0033126 name: Cutaneous necrosis -def: "Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red coloured skin." [PMID:28470091] +def: "Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red colored skin." [PMID:28470091] synonym: "Skin necrosis" EXACT [] is_a: HP:0011355 ! Localized skin lesion property_value: http://purl.org/dc/elements/1.1/date "2020-09-05T13:12:04Z" xsd:dateTime @@ -141272,7 +141317,7 @@ id: HP:0033153 name: Elevated circulating dodecenoylcarnitine concentration def: "An abnormally increased circulation of dodecenoylcarnitine, C12:1, in the blood circulation." [] synonym: "Elevated plasma dodecenoylcarnitine concentration" EXACT [] -is_a: HP:0033109 ! Abnormal circulating non-proteinogenic amino acid concentration +is_a: HP:0430143 ! Elevated circulating C12 acylcarnitine concentration property_value: http://purl.org/dc/elements/1.1/date "2020-09-19T12:32:07Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -141491,7 +141536,7 @@ comment: IL-8 is a chemokine that acts as a chemotactic factor secreted by activ synonym: "Increased serum IL-8" EXACT [] synonym: "Increased serum interleukin 8" EXACT [] synonym: "Increased serum interleukin-8" EXACT [] -is_a: HP:0030782 ! Abnormal circulating interleukin concentration +is_a: HP:0011117 ! Abnormal circulating interleukin concentration property_value: http://purl.org/dc/elements/1.1/date "2020-09-28T22:05:51Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -142974,8 +143019,8 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0033349 name: Seizure cluster -def: "A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognisable by the primary clinician, carer or patient." [PMID:29871784, PMID:32305858] -comment: This term should be used with an HPO term for the appropriate type of seizure to denote clustered occurence of seizures. There is no consensus within the medical community regarding the definition of a seizure cluster, where limitations of current clinical definitions include poor sensitivity and specificity. The proposed definition is meant to serve as a placeholder until a more robust definition, likely facilitated by technological advances in seizure tracking devices and personalised cluster identification is agreed upon. +def: "A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognizable by the primary clinician, carer or patient." [PMID:29871784, PMID:32305858] +comment: This term should be used with an HPO term for the appropriate type of seizure to denote clustered occurence of seizures. There is no consensus within the medical community regarding the definition of a seizure cluster, where limitations of current clinical definitions include poor sensitivity and specificity. The proposed definition is meant to serve as a placeholder until a more robust definition, likely facilitated by technological advances in seizure tracking devices and personalized cluster identification is agreed upon. synonym: "Acute repetitive seizures" EXACT [] synonym: "Crescendo seizures" EXACT [] synonym: "Cyclical seizures" EXACT [] @@ -143280,7 +143325,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0033383 name: Decreased compound muscle action potential amplitude def: "Reduced level of the compound muscle action potential (CMAP), which is recorded following electrical stimulation of a nerve from surface electrodes overlying a muscle supplied by that nerve." [PMID:15961865] -comment: The CMAP is a summated voltage response from the individual muscle fibre action potentials. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV). +comment: The CMAP is a summated voltage response from the individual muscle fiber action potentials. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV). synonym: "Decreased CMAP amplitude" EXACT abbreviation [] is_a: HP:0030179 ! Abnormal peripheral action potential amplitude property_value: http://purl.org/dc/elements/1.1/date "2021-01-02T12:41:56Z" xsd:dateTime @@ -143299,7 +143344,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0033385 name: Elevated urine pyridinoline level def: "An increased amount of pyridinoline in the urine." [PMID:26306627] -comment: The urinary cross-links lysyl-pyridinoline (LP, or deoxypyridinoline DPD) and hydroxylysyl-pyridinoline (HP, or pyridinoline PYD) are biochemical markers of osteoclastic bone resorption and collagen degradation. Pyridinolines are formed during fibril formation of type I and type II collagen in the extracellular matrix. Some lysyl- and hydroxylysyl-residues in distinct positions in the collagen triple-helix and in the telopeptides of the tropocollagen are oxidised by lysyl oxidase. Subsequently three of these residues are covalently linked thereby interconnecting tropocollagen molecules and stabilizing the collagen matrix. When bone collagen is degraded, pyridinolines remain as stable degradation products and are secreted with the urine. +comment: The urinary cross-links lysyl-pyridinoline (LP, or deoxypyridinoline DPD) and hydroxylysyl-pyridinoline (HP, or pyridinoline PYD) are biochemical markers of osteoclastic bone resorption and collagen degradation. Pyridinolines are formed during fibril formation of type I and type II collagen in the extracellular matrix. Some lysyl- and hydroxylysyl-residues in distinct positions in the collagen triple-helix and in the telopeptides of the tropocollagen are oxidized by lysyl oxidase. Subsequently three of these residues are covalently linked thereby interconnecting tropocollagen molecules and stabilizing the collagen matrix. When bone collagen is degraded, pyridinolines remain as stable degradation products and are secreted with the urine. synonym: "Elevated urine hydroxylysyl-pyridinoline level" EXACT [] is_a: HP:0033384 ! Elevated urinary collagen degradation products property_value: http://purl.org/dc/elements/1.1/date "2021-01-02T13:31:16Z" xsd:dateTime @@ -143317,7 +143362,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0033387 name: Elevated circulating pyridinoline concentration def: "An increased concentration of hydroxylysyl-pyridinoline (pyridinoline) in the blood circulation." [PMID:26306627] -comment: The urinary cross-links lysyl-pyridinoline (LP, or deoxypyridinoline DPD) and hydroxylysyl-pyridinoline (HP, or pyridinoline PYD) are established biochemical markers of osteoclastic bone resorption and collagen degradation. Pyridinolines are formed during fibril formation of type I and type II collagen in the extracellular matrix. Some lysyl- and hydroxylysyl-residues in distinct positions in the collagen triple-helix and in the telopeptides of the tropocollagen are oxidised by lysyl oxidase. Subsequently three of these residues are covalently linked thereby interconnecting tropocollagen molecules and stabilizing the collagen matrix. When bone collagen is degraded, pyridinolines remain as stable degradation products and are secreted with the urine. Depending on whether or not these lysyl residues had been hydroxylated prior to crosslinking, lysyl-pyridinoline (LP) or hydroxylysyl-pyridinoline (HP) is generated. +comment: The urinary cross-links lysyl-pyridinoline (LP, or deoxypyridinoline DPD) and hydroxylysyl-pyridinoline (HP, or pyridinoline PYD) are established biochemical markers of osteoclastic bone resorption and collagen degradation. Pyridinolines are formed during fibril formation of type I and type II collagen in the extracellular matrix. Some lysyl- and hydroxylysyl-residues in distinct positions in the collagen triple-helix and in the telopeptides of the tropocollagen are oxidized by lysyl oxidase. Subsequently three of these residues are covalently linked thereby interconnecting tropocollagen molecules and stabilizing the collagen matrix. When bone collagen is degraded, pyridinolines remain as stable degradation products and are secreted with the urine. Depending on whether or not these lysyl residues had been hydroxylated prior to crosslinking, lysyl-pyridinoline (LP) or hydroxylysyl-pyridinoline (HP) is generated. is_a: HP:0033386 ! Abnormal circulating collagen degradation product concentration property_value: http://purl.org/dc/elements/1.1/date "2021-01-02T13:36:47Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -143415,7 +143460,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0033398 name: Pleural plaque -def: "Deposits of hyalinized collagen fibres in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs)." [https://orcid.org/0000-0002-4095-8489, PMID:929215] +def: "Deposits of hyalinized collagen fibers in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs)." [https://orcid.org/0000-0002-4095-8489, PMID:929215] comment: Pleural plaques are indicative of asbestos exposure. Grossly, the pleural plaque is characterized by hyalinized discrete elevated gray-white or pearly areas involving the parietal pleura. Despite varying sizes and shapes, the pattern of the plaques is repetitive. There is a flat or slightly uneven surface, with steep edges rising abruptly from the surrounding normal pleura, and here and there rounded mounds, with somewhat overhanging edges. The thick pleural plaques are typical in appearance, and the classic comparison is to frosting or sugar icing (Zuckerguss), as is seen on serous membranes. is_a: HP:0002103 ! Abnormal pleura morphology property_value: http://purl.org/dc/elements/1.1/date "2021-01-09T14:32:56Z" xsd:dateTime @@ -143815,10 +143860,10 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0033444 name: Elevated circulating dodecanoylcarnitine concentration -def: "Concentration of dodecanoylcarnitine in the blood circulation above the upper limit of normal." [] +def: "Concentration of dodecanoylcarnitine (C12:0) in the blood circulation above the upper limit of normal." [] synonym: "Elevated circulating O-dodecanoylcarnitine concentration" EXACT [] synonym: "Elevated plasma dodecanoylcarnitine, C12:0" EXACT [] -is_a: HP:0035017 ! Elevated circulating medium-chain acylcarnitine concentration +is_a: HP:0430143 ! Elevated circulating C12 acylcarnitine concentration property_value: http://purl.org/dc/elements/1.1/date "2021-01-09T18:51:51Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -144661,11 +144706,11 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0033534 name: Increased circulating brain natriuretic peptide concentration def: "An increased concentration of brain natriuretic peptide in the blood circulation." [https://orcid.org/0000-0002-4095-8489, PMID:16698841] -comment: BNP is a hormone secreted by ventricular cardiomyocytes in response to stretching caused by increased ventricular blood volume. BNP is synthesised as a prohormone (proBNP) comprising 108 amino acids. After the release into the circulation proBNP is cleaved in equimolar amounts into the biologically active BNP (32 amino acid), and the biologically inactive 76 amino acid N-terminal fragment (NT-proBNP). BNP has a number of physiological effects including natriuresis and diuresis, peripheral vasodilation, inhibition of renin angiotensin aldosterone system (RAAS) and the sympathetic nervous system (SNS). +comment: BNP is a hormone secreted by ventricular cardiomyocytes in response to stretching caused by increased ventricular blood volume. BNP is synthesized as a prohormone (proBNP) comprising 108 amino acids. After the release into the circulation proBNP is cleaved in equimolar amounts into the biologically active BNP (32 amino acid), and the biologically inactive 76 amino acid N-terminal fragment (NT-proBNP). BNP has a number of physiological effects including natriuresis and diuresis, peripheral vasodilation, inhibition of renin angiotensin aldosterone system (RAAS) and the sympathetic nervous system (SNS). synonym: "Elevated circulating BNP concentration" EXACT abbreviation [] synonym: "Increased B-type natriuretic peptide" EXACT [] synonym: "Increased ventricular natriuretic peptide" EXACT [] -is_a: HP:0031138 ! Abnormal B-type natriuretic peptide concentration +is_a: HP:0031138 ! Abnormal circulating B-type natriuretic peptide concentration property_value: http://purl.org/dc/elements/1.1/date "2021-01-15T12:59:46Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -144829,7 +144874,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0033552 name: Chronic villitis -def: "Villitis of unknown etiology (synonymous with villitis of unknown aetiology) is a histologic diagnosis and, although it may have a variable distribution, evidence indicates that 3 parenchymal blocks will identify 62% of villitis, reaching an asymptote of 6 and 7 blocks identifying 85% of villitis. Villitis of unknown etiology by definition excludes those cases where an etiology is identified, such as viral or acute infections, and thus is preferred to the term nonspecific chronic villitis. It is usually lymphohistiocytic: although the presence of rare plasma cells does not exclude the diagnosis, thorough evaluation for an infectious etiology, such as cytomegalovirus, is required in a predominantly plasma cell villitis." [] +def: "Villitis of unknown etiology (synonymous with villitis of unknown etiology) is a histologic diagnosis and, although it may have a variable distribution, evidence indicates that 3 parenchymal blocks will identify 62% of villitis, reaching an asymptote of 6 and 7 blocks identifying 85% of villitis. Villitis of unknown etiology by definition excludes those cases where an etiology is identified, such as viral or acute infections, and thus is preferred to the term nonspecific chronic villitis. It is usually lymphohistiocytic: although the presence of rare plasma cells does not exclude the diagnosis, thorough evaluation for an infectious etiology, such as cytomegalovirus, is required in a predominantly plasma cell villitis." [] synonym: "Chronic villitis (non-infectious)" EXACT [] synonym: "Nonspecific chronic villitis" EXACT [] synonym: "Villitis of unknown aetiology" EXACT uk_spelling [] @@ -144899,7 +144944,10 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0033559 name: Anti-myeloperoxidase antibody positivity def: "The presence of autoantibodies in the blood circulation that react against myeloperoxidase." [https://orcid.org/0000-0002-4095-8489, PMID:30767872] +comment: MPO-ANCA are host-derived autoantibodies against shielded neutrophilic antigens. These antibodies react against primary granules present in neutrophils and monocytes. The formation of these antibodies has been hypothesized to be a two-step process. The first step involves exposure of neutrophils to inflammatory cytokines leading to surface exposure of cryptogenic antigens like myeloperoxidase or MPO. Next, predisposing genetic, environmental, and other factors result in the production of MPO-ANCA. In the second step, these MPO-ANCA cause damage to the host vasculature by reacting and crosslinking neutrophils to the endothelial receptors. synonym: "Anti-MPO antibody positivity" EXACT abbreviation [] +synonym: "Anti-myeloperoxidase specific antineutrophil cytoplasmic antibody" EXACT [] +synonym: "MPO-ANCA" EXACT abbreviation [] is_a: HP:0032229 ! Perinuclear antineutrophil antibody positivity property_value: http://purl.org/dc/elements/1.1/date "2021-01-23T12:16:50Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -145068,7 +145116,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0033578 name: Pre-capillary pulmonary hypertension -def: "Pre-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg)." [https://orcid.org/0000-0002-4095-8489, PMID:30545968] +def: "Pre-capillary pulmonary hypertension is a haemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg)." [https://orcid.org/0000-0002-4095-8489, PMID:30545968] synonym: "Precapillary pulmonary hypertension" EXACT [] is_a: HP:0004890 ! Elevated pulmonary artery pressure property_value: http://purl.org/dc/elements/1.1/date "2021-01-24T14:20:32Z" xsd:dateTime @@ -145086,7 +145134,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0033580 name: Compound motor action potential abnormality -def: "An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibres in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fibre action potentials. The shortest latency of the CMAP is the time from stimulus artefact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV)." [PMID:15961865, PMID:26744834] +def: "An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibers in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fiber action potentials. The shortest latency of the CMAP is the time from stimulus artifact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV)." [PMID:15961865, PMID:26744834] is_a: HP:0040131 ! Abnormal motor nerve conduction velocity property_value: http://purl.org/dc/elements/1.1/date "2021-01-24T16:18:16Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -145365,7 +145413,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0033613 name: Perifissural pulmonary nodule -def: "Solid, homogenous nodules characterised by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes." [https://orcid.org/0000-0002-4095-8489, PMID:20177105] +def: "Solid, homogenous nodules characterized by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes." [https://orcid.org/0000-0002-4095-8489, PMID:20177105] is_a: HP:0033608 ! Pulmonary nodule property_value: http://purl.org/dc/elements/1.1/date "2021-01-30T22:28:48Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -145558,7 +145606,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0033635 name: Post-capillary pulmonary hypertension -def: "Post-capillary pulmonary hypertension is a hemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units)." [https://orcid.org/0000-0002-4095-8489, PMID:30545968] +def: "Post-capillary pulmonary hypertension is a hemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units)." [https://orcid.org/0000-0002-4095-8489, PMID:30545968] comment: Post-capillary hypertension resulting from left heart disease causes backpressure and increases the hydrostatic pressure in the pulmonary veins which eventually results in increased pressure in pulmonary arteries. synonym: "Postcapillary pulmonary hypertension" EXACT [] is_a: HP:0004890 ! Elevated pulmonary artery pressure @@ -145568,7 +145616,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0033636 name: Combined pre- and post-capillary pulmonary hypertension -def: "Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units)." [https://orcid.org/0000-0002-4095-8489, PMID:30545968] +def: "Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units)." [https://orcid.org/0000-0002-4095-8489, PMID:30545968] is_a: HP:0004890 ! Elevated pulmonary artery pressure property_value: http://purl.org/dc/elements/1.1/date "2021-02-01T14:58:09Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -145991,7 +146039,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0033680 name: Pilocytic astrocytoma -def: "The most common form of astrocytoma (WHO Grade I) in childhood. These typically have MAPK signalling pathway abnormalities." [https://orcid.org/0000-0002-1735-8178, PMID:23817572] +def: "The most common form of astrocytoma (WHO Grade I) in childhood. These typically have MAPK signaling pathway abnormalities." [https://orcid.org/0000-0002-1735-8178, PMID:23817572] xref: NCIT:C4047 is_a: HP:0009592 ! Astrocytoma property_value: http://purl.org/dc/elements/1.1/date "2021-03-06T13:07:15Z" xsd:dateTime @@ -149001,7 +149049,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0034016 name: Anti-HLA antibody positivity def: "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen (HLA)." [PMID:29985463] -comment: The human major histocompatibility complex is a family of genes that encodes HLAs, which have a crucial role in defence against foreign pathogens and immune surveillance of tumors. HLA molecules are highly polymorphic antigens; antibodies against these antigens can develop as a result of pregnancy, transplantation or blood transfusion. +comment: The human major histocompatibility complex is a family of genes that encodes HLAs, which have a crucial role in defense against foreign pathogens and immune surveillance of tumors. HLA molecules are highly polymorphic antigens; antibodies against these antigens can develop as a result of pregnancy, transplantation or blood transfusion. synonym: "Anti-human leukocyte antigen antibody positivity" EXACT [] is_a: HP:0030057 ! Autoimmune antibody positivity property_value: http://purl.org/dc/elements/1.1/date "2021-09-04T15:08:39Z" xsd:dateTime @@ -149351,7 +149399,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0034056 name: Increased fecal calprotectin level def: "An increased amount of calprotectin in the feces." [] -comment: Calprotectin is a calcium- and zinc-binding protein of the S-100 protein family which is mainly found within neutrophils and throughout the human body. The presence of calprotectin in faeces is a consequence of neutrophil migration into the gastrointestinal tissue due to an inflammatory process. Faecal calprotectin concentrations demonstrate good correlation with intestinal inflammation and faecal calprotectin is used as a biomarker in gastrointestinal disorders. {xref="PMID:28420947", xref="PMID:30828114"} +comment: Calprotectin is a calcium- and zinc-binding protein of the S-100 protein family which is mainly found within neutrophils and throughout the human body. The presence of calprotectin in feces is a consequence of neutrophil migration into the gastrointestinal tissue due to an inflammatory process. Faecal calprotectin concentrations demonstrate good correlation with intestinal inflammation and fecal calprotectin is used as a biomarker in gastrointestinal disorders. {xref="PMID:28420947", xref="PMID:30828114"} is_a: HP:0031685 ! Abnormal stool composition property_value: http://purl.org/dc/elements/1.1/date "2021-11-27T14:02:14Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -150188,6 +150236,7 @@ comment: Histidyl-tRNA synthetase (HRS = Jo-1) represents a key autoantibody tar synonym: "Anti-Jo-1 antibody positivity" EXACT [] synonym: "Anti-JO1 antibody positivity" EXACT [] is_a: HP:0034147 ! Anti-aminoacyl-tRNA synthetase antibody positivity +is_a: HP:6000678 ! Myositis-specific autoantibody positivity property_value: http://purl.org/dc/elements/1.1/date "2021-12-23T14:07:13Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -150256,7 +150305,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0034160 name: Abnormal circulating interleukin 9 concentration def: "Any deviation from the normal range of the concentration of interleukin 9 in the blood circulation." [] -is_a: HP:0030782 ! Abnormal circulating interleukin concentration +is_a: HP:0011117 ! Abnormal circulating interleukin concentration property_value: http://purl.org/dc/elements/1.1/date "2022-02-19T11:37:53Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -150272,7 +150321,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0034162 name: Abnormal circulating interleukin 10 concentration def: "Any deviation from the normal range of the concentration of interleukin 10 in the blood circulation." [] -is_a: HP:0030782 ! Abnormal circulating interleukin concentration +is_a: HP:0011117 ! Abnormal circulating interleukin concentration property_value: http://purl.org/dc/elements/1.1/date "2022-02-19T11:38:54Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -150288,7 +150337,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0034164 name: Abnormal circulating interleukin 21 concentration def: "Any deviation from the normal range of the concentration of interleukin 21 in the blood circulation." [] -is_a: HP:0030782 ! Abnormal circulating interleukin concentration +is_a: HP:0011117 ! Abnormal circulating interleukin concentration property_value: http://purl.org/dc/elements/1.1/date "2022-02-19T11:39:51Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -150312,7 +150361,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0034167 name: Abnormal circulating interleukin 22 concentration def: "Any deviation from the normal range of the concentration of interleukin 22 in the blood circulation." [] -is_a: HP:0030782 ! Abnormal circulating interleukin concentration +is_a: HP:0011117 ! Abnormal circulating interleukin concentration property_value: http://purl.org/dc/elements/1.1/date "2022-02-19T11:41:04Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -150336,7 +150385,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0034170 name: Abnormal circulating interleukin 23 concentration def: "Any deviation from the normal range of the concentration of interleukin 23 in the blood circulation." [] -is_a: HP:0030782 ! Abnormal circulating interleukin concentration +is_a: HP:0011117 ! Abnormal circulating interleukin concentration property_value: http://purl.org/dc/elements/1.1/date "2022-02-19T11:42:21Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -150360,7 +150409,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0034173 name: Abnormal circulating interleukin 27 concentration def: "Any deviation from the normal range of the concentration of interleukin 27 in the blood circulation." [] -is_a: HP:0030782 ! Abnormal circulating interleukin concentration +is_a: HP:0011117 ! Abnormal circulating interleukin concentration property_value: http://purl.org/dc/elements/1.1/date "2022-02-19T11:43:39Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -150384,7 +150433,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0034176 name: Abnormal circulating interleukin 17A concentration def: "Any deviation from the normal range of the concentration of interleukin 17A in the blood circulation." [] -is_a: HP:0030782 ! Abnormal circulating interleukin concentration +is_a: HP:0011117 ! Abnormal circulating interleukin concentration property_value: http://purl.org/dc/elements/1.1/date "2022-02-19T11:45:00Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -150523,7 +150572,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0034192 name: Pulmonary thromboembolism -def: "Pulmonary embolism is caused by emboli, which have originated from venous thrombi, travelling to and occluding the arteries of the lung." [PMID:29770793] +def: "Pulmonary embolism is caused by emboli, which have originated from venous thrombi, traveling to and occluding the arteries of the lung." [PMID:29770793] comment: Pulmonary embolism (PE) is the most dangerous form of venous thromboembolism, and undiagnosed or untreated PE can be fatal. Acute PE is associated with right ventricular dysfunction, which can lead to arrhythmia, haemodynamic collapse and shock. Furthermore, individuals who survive PE can develop post-PE syndrome, which is characterized by chronic thrombotic remains in the pulmonary arteries, persistent right ventricular dysfunction, decreased quality of life and/or chronic functional limitations. is_a: HP:0001907 ! Thromboembolism property_value: http://purl.org/dc/elements/1.1/date "2022-03-16T14:05:15Z" xsd:dateTime @@ -151030,7 +151079,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0034250 name: Fetal nuchal edema def: "Nuchal edema is considered present in a fetus at gestational week 14 or more if in the midsagittal plane of the neck, there is subcutaneous edema that produces a characteristic tremor on ballotment of the fetal head. This constitutes the severe end of the spectrum of increased nuchal fold thickness, which is defined as soft-tissue thickening of 6 mm or more, seen in the suboccipitobregmatic view of the fetal head. Nuchal edema may be confined to the neck or it may be generalized, as part of hydrops fetalis." [PMID:16507941, PMID:9880279] -comment: In the fetus fluid collects behind the neck, much like it does in dependent ankle oedema in later life. This occurs partly because of the tendency for the fetus to lie on its back and partly because of the laxity of the skin of the neck. As with ankle oedema this accumulation of fluid can represent the end point of several pathological processes, including heart failure. Fluid collecting behind the neck can be detected as nuchal translucency by ultrasound scanning, and it can be measured. The more fluid that has accumulated, the greater the risk of an abnormality being present. +comment: In the fetus fluid collects behind the neck, much like it does in dependent ankle edema in later life. This occurs partly because of the tendency for the fetus to lie on its back and partly because of the laxity of the skin of the neck. As with ankle edema this accumulation of fluid can represent the end point of several pathological processes, including heart failure. Fluid collecting behind the neck can be detected as nuchal translucency by ultrasound scanning, and it can be measured. The more fluid that has accumulated, the greater the risk of an abnormality being present. is_a: HP:0025667 ! Fetal neck anomaly property_value: http://purl.org/dc/elements/1.1/date "2022-04-12T22:57:01Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -151484,7 +151533,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0034302 name: Megalopapilla -def: "A congenitally anomalous enlarged optic disk (surface area greater than 2.50 square millimeters). It is considered to be a normal variant without physiological defects." [PMID:31926369] +def: "A congenitally anomalous enlarged optic disc (surface area greater than 2.50 square millimeters). It is considered to be a normal variant without physiological defects." [PMID:31926369] is_a: HP:0012795 ! Abnormal optic disc morphology property_value: http://purl.org/dc/elements/1.1/date "2022-07-03T14:38:18Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -151667,6 +151716,8 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0034323 name: Reduced circulating growth hormone concentration def: "Concentration of growth hormone in the blood circulation below normal limits." [] +synonym: "Growth hormone deficiency" EXACT [] +synonym: "Somatotropin deficiency" EXACT [] is_a: HP:0032367 ! Abnormal growth hormone level property_value: http://purl.org/dc/elements/1.1/date "2022-08-17T16:18:35Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -152235,7 +152286,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0034388 name: Hilar lymph node enlargement -def: "Hilar lymphadenopathy is swelling or enlargement of lymph nodes localised in hila, wedge-shaped anatomical structures containing pulmonary vessels, major bronchi, nerves and lymph nodes. Hilar lymph nodes are not visible on chest X-ray if they are not enlarged. Hilar lymph node enlargement can be caused by benign and malignant conditions and can be symmetrical (bilateral) or asymmetrical (unilateral)." [https://orcid.org/0000-0002-4095-8489] +def: "Hilar lymphadenopathy is swelling or enlargement of lymph nodes localized in hila, wedge-shaped anatomical structures containing pulmonary vessels, major bronchi, nerves and lymph nodes. Hilar lymph nodes are not visible on chest X-ray if they are not enlarged. Hilar lymph node enlargement can be caused by benign and malignant conditions and can be symmetrical (bilateral) or asymmetrical (unilateral)." [https://orcid.org/0000-0002-4095-8489] synonym: "Hilar adenopathy" EXACT [] synonym: "Hilar lymphadenopathy" EXACT [] is_a: HP:0002716 ! Lymphadenopathy @@ -152245,7 +152296,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0034389 name: Pulmonary vein varix -def: "Pulmonary vein varix (PVV), refers to a localised dilatation of a pulmonary vein. PVV is a rare condition and can be congenital or acquired. PVV typically occur at the confluence of the veins adjacent to the left atrium. PVVs are sometimes classified into three morphological types: saccular, tortuous and confluent." [https://orcid.org/0000-0002-4095-8489] +def: "Pulmonary vein varix (PVV), refers to a localized dilatation of a pulmonary vein. PVV is a rare condition and can be congenital or acquired. PVV typically occur at the confluence of the veins adjacent to the left atrium. PVVs are sometimes classified into three morphological types: saccular, tortuous and confluent." [https://orcid.org/0000-0002-4095-8489] synonym: "Pulmonary vein dilatation" EXACT [] is_a: HP:0030968 ! Abnormal pulmonary vein morphology property_value: http://purl.org/dc/elements/1.1/date "2022-09-26T18:41:44Z" xsd:dateTime @@ -152556,7 +152607,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0034424 name: Clicking tinnitus def: "A type of tinnitus that presents as clicks, resembling the noise made by the snapping together of 2 fingers." [PMID:34147152] -comment: Clicking tinnitus may be caused by conditions including palatal myoclonus, which is characterised by a rhythmic contraction of the palatal muscles including the levator veli palatini and the tensor palatini muscles. +comment: Clicking tinnitus may be caused by conditions including palatal myoclonus, which is characterized by a rhythmic contraction of the palatal muscles including the levator veli palatini and the tensor palatini muscles. is_a: HP:0000360 ! Tinnitus property_value: http://purl.org/dc/elements/1.1/date "2022-11-12T12:34:55Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -152783,7 +152834,7 @@ id: HP:0034447 name: Increased circulating interleukin 18 concentration def: "An increased concentration of interleukin-18 in the blood circulation." [] synonym: "IL-18 high in blood" EXACT [] -is_a: HP:0030782 ! Abnormal circulating interleukin concentration +is_a: HP:0011117 ! Abnormal circulating interleukin concentration property_value: http://purl.org/dc/elements/1.1/date "2022-11-26T14:13:53Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -153144,7 +153195,7 @@ id: HP:0034486 name: Reduced circulating interleukin 7 concentration def: "A diminished concentration of interleukin-7 in the circulation." [] synonym: "IL-7 low in blood" EXACT [] -is_a: HP:0030782 ! Abnormal circulating interleukin concentration +is_a: HP:0011117 ! Abnormal circulating interleukin concentration property_value: http://purl.org/dc/elements/1.1/date "2022-12-10T14:38:04Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -153153,7 +153204,7 @@ id: HP:0034487 name: Increased circulating interleukin 12 concentration def: "An increased concentration of interleukin-12 in the blood circulation." [] synonym: "IL-12 high in blood" EXACT [] -is_a: HP:0030782 ! Abnormal circulating interleukin concentration +is_a: HP:6000442 ! Abnormal circulating interleukin 12 concentration property_value: http://purl.org/dc/elements/1.1/date "2022-12-10T14:39:46Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -153162,7 +153213,7 @@ id: HP:0034488 name: Increased circulating interleukin 13 concentration def: "An increased concentration of interleukin-13 in the blood circulation." [] synonym: "IL-13 high in blood" EXACT [] -is_a: HP:0030782 ! Abnormal circulating interleukin concentration +is_a: HP:0011117 ! Abnormal circulating interleukin concentration property_value: http://purl.org/dc/elements/1.1/date "2022-12-10T14:40:51Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -153171,7 +153222,7 @@ id: HP:0034489 name: Increased circulating interleukin 2 concentration def: "An increased concentration of interleukin-2 in the blood circulation." [] synonym: "IL-2 high in blood" EXACT [] -is_a: HP:0030782 ! Abnormal circulating interleukin concentration +is_a: HP:0011117 ! Abnormal circulating interleukin concentration property_value: http://purl.org/dc/elements/1.1/date "2022-12-10T14:41:47Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -153180,7 +153231,7 @@ id: HP:0034490 name: Increased circulating interleukin 4 concentration def: "An increased concentration of interleukin-4 in the blood circulation." [] synonym: "IL-4 high in blood" EXACT [] -is_a: HP:0030782 ! Abnormal circulating interleukin concentration +is_a: HP:0011117 ! Abnormal circulating interleukin concentration property_value: http://purl.org/dc/elements/1.1/date "2022-12-10T14:43:06Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -153189,7 +153240,7 @@ id: HP:0034491 name: Increased circulating interleukin 5 concentration def: "An increased concentration of interleukin-5 in the blood circulation." [] synonym: "IL-5 high in blood" EXACT [] -is_a: HP:0030782 ! Abnormal circulating interleukin concentration +is_a: HP:0011117 ! Abnormal circulating interleukin concentration property_value: http://purl.org/dc/elements/1.1/date "2022-12-10T14:43:18Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -153382,7 +153433,7 @@ id: HP:0034513 name: Increased circulating Interferon-alpha concentration def: "An elevation in the concentration of interferon alpha measured in the blood circulation." [] synonym: "Interferon-alpha high in blood" EXACT [] -is_a: HP:0030354 ! Abnormal circulating interferon concentration +is_a: HP:0011116 ! Abnormal circulating interferon concentration property_value: http://purl.org/dc/elements/1.1/date "2022-12-14T13:26:50Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -153407,7 +153458,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0034516 name: Ameliorated by ketogenic diet def: "Applies to a sign or symptom that is improved or made more bearable by following a ketogenic diet." [] -comment: The ketogenic diet is a method of nutrition leading to the increased production of ketone bodies (beta-hydroxybutyrate, acetoacetate and acetone) in the organism and, thus, to a condition of ketosis. This effect comes about by obtaining the greatest energy share from fats and minimising the consumption of carbohydrates. +comment: The ketogenic diet is a method of nutrition leading to the increased production of ketone bodies (beta-hydroxybutyrate, acetoacetate and acetone) in the organism and, thus, to a condition of ketosis. This effect comes about by obtaining the greatest energy share from fats and minimizing the consumption of carbohydrates. synonym: "Ketogenic diet improves symptoms" EXACT [] is_a: HP:0025254 ! Ameliorated by property_value: http://purl.org/dc/elements/1.1/date "2022-12-14T13:53:23Z" xsd:dateTime @@ -153491,14 +153542,14 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0034526 name: Abnormal enzyme activity in muscle tissue def: "Deviation from the normal activity of an enzyme in muscle tissue." [] -is_a: HP:6000231 ! Abnormal tissue enzyme activity +is_a: HP:6000231 ! Abnormal tissue enzyme concentration or activity property_value: http://purl.org/dc/elements/1.1/date "2023-02-08T14:28:26Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0034527 name: Reduced muscle phosphoglycerate kinase activity -def: "Reduced activity of phosphoglycerate kinase (PGK) in muscle tissue. PGK is a glycolytic enzyme that catalyses one of the two ATP-producing reactions in the glycolytic pathway, through the conversion of 1,3-bisphosphoglycerate to 3-phosphoglycerate." [PMID:8998855] +def: "Reduced activity of phosphoglycerate kinase (PGK) in muscle tissue. PGK is a glycolytic enzyme that catalyzes one of the two ATP-producing reactions in the glycolytic pathway, through the conversion of 1,3-bisphosphoglycerate to 3-phosphoglycerate." [PMID:8998855] is_a: HP:0034526 ! Abnormal enzyme activity in muscle tissue property_value: http://purl.org/dc/elements/1.1/date "2023-02-08T14:29:28Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -153844,7 +153895,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0034567 name: Optic pit def: "A developmental anomaloy characterized by congenital excavation of the optic nerve head." [PMID:27847606] -synonym: "Optic disc pit" EXACT [] +synonym: "Optic disc pit" EXACT uk_spelling [] synonym: "Optic nerve pit" EXACT [] is_a: HP:0000587 ! Abnormal optic nerve morphology property_value: http://purl.org/dc/elements/1.1/date "2023-02-20T13:36:47Z" xsd:dateTime @@ -154034,7 +154085,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0034588 name: Crypt hyperplasia -def: "Crypt hyperplasia denotes elongation of the length of the crypts of Lieberkuhn, a process that initially precedes villous atrophy. Elongation may be caused by expansion of the lamina propria as a result of the proliferation of stromal cells, an influx of inflammatory cells and tissue remodelling." [PMID:17021129] +def: "Crypt hyperplasia denotes elongation of the length of the crypts of Lieberkuhn, a process that initially precedes villous atrophy. Elongation may be caused by expansion of the lamina propria as a result of the proliferation of stromal cells, an influx of inflammatory cells and tissue remodeling." [PMID:17021129] is_a: HP:0025129 ! Abnormal small intestinal mucosa morphology property_value: http://purl.org/dc/elements/1.1/date "2023-03-12T13:52:40Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -154125,7 +154176,7 @@ id: HP:0034598 name: Elevated urinary creatine level def: "An increased amount of creatine in the urine." [] synonym: "Creatine high in urine" EXACT [] -is_a: HP:0033354 ! Abnormal urine metabolite level +is_a: HP:6000531 ! Abnormal urinary organic compound level property_value: http://purl.org/dc/elements/1.1/date "2023-03-12T14:45:24Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -154151,7 +154202,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0034601 name: Decreased circulating C1q concentration def: "Concentration or activity of the C1q protein in the blood circulation below the lower limit of normal. C1q is the first component of the classical pathway and is composed of the C1qA chain, C1qB chain, and C1qC chain, which are encoded by C1qA, C1qB, and C1qC genes." [PMID:24160257] -is_a: HP:0004431 ! Complement deficiency +is_a: HP:0004431 ! Reduced circulating complement concentration property_value: http://purl.org/dc/elements/1.1/date "2023-03-12T18:06:12Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -154583,7 +154634,10 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0034649 name: Elevated urine N-acetylaspartic acid level -def: "Amoutn of N-acetylaspartate high in the urine above upper limit of normal." [] +alt_id: HP:0032272 +def: "The amount of N-acetylaspartate in the urine, when corrected for urine concentration, is above upper limit of normal. This feature can be measured using gas chromatography-mass spectrometry." [PMID:8412017] +comment: Although NAA concentration is also elevated in the blood and cerebrospinal fluid (CSF) of children with neonatal/infantile (severe) Canavan disease, elevated concentration of NAA in urine is sufficient for diagnosis of affected individuals. +synonym: "Elevated urinary N-acetylaspartic acid level" EXACT [] synonym: "N-acetylaspartate high in urine" EXACT [] is_a: HP:0033098 ! Increased urinary non-proteinogenic amino acid level property_value: http://purl.org/dc/elements/1.1/date "2023-03-21T11:50:13Z" xsd:dateTime @@ -154889,7 +154943,7 @@ id: HP:0034685 name: Abnormal liver enzyme activity or concentration def: "Concentration or activity of an enzyme is above or below the limits of normal in liver tissue." [] synonym: "Abnormal hepatic enzyme activity or concentration" EXACT [] -is_a: HP:6000231 ! Abnormal tissue enzyme activity +is_a: HP:6000231 ! Abnormal tissue enzyme concentration or activity property_value: http://purl.org/dc/elements/1.1/date "2023-03-26T18:13:11Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -154930,7 +154984,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0034690 name: Reduced short-chain acyl-CoA dehydrogenase activity -def: "Diminished activity of the enzyme Short-chain acyl-CoA dehydrogenase (SCAD), a key enzyme of fatty acid beta-oxidation that catalyses the first step in mitochondrial beta-oxidation of fatty acids." [PMID:26989860] +def: "Diminished activity of the enzyme Short-chain acyl-CoA dehydrogenase (SCAD), a key enzyme of fatty acid beta-oxidation that catalyzes the first step in mitochondrial beta-oxidation of fatty acids." [PMID:26989860] is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity property_value: http://purl.org/dc/elements/1.1/date "2023-03-26T18:24:12Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -155940,7 +155994,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0034807 name: Paroxysmal nocturnal dyspnea def: "Attacks of breathlessness that occur at night and may awaken the sleeping patient." [PMID:26933707] -synonym: "Paroxysmal nocturnal dyspnoea" EXACT [] +synonym: "Paroxysmal nocturnal dyspnea" EXACT [] is_a: HP:0002094 ! Dyspnea property_value: http://purl.org/dc/elements/1.1/date "2023-07-01T11:11:31Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -156390,7 +156444,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0034858 name: Abnormal leukocyte enzyme concentration or activity -def: "Concentration or activity of an enzyme as measured in leukocytes is above or below the limits of normal in the blood circulation." [] +def: "Concentration or activity of an enzyme as measured in leukocytes is above or below the limits of normal." [] is_a: HP:0034684 ! Abnormal enzyme concentration or activity property_value: http://purl.org/dc/elements/1.1/date "2023-07-08T15:40:32Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -157135,7 +157189,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0034945 name: Tubular shadows -def: "Tubular shadows are characterised by a complete absence of cells in the testicular tubules, meaning that germ cells as well as somatic Sertoli cells are absent. The cells have been replaced by hyalinization." [] +def: "Tubular shadows are characterized by a complete absence of cells in the testicular tubules, meaning that germ cells as well as somatic Sertoli cells are absent. The cells have been replaced by hyalinization." [] is_a: HP:0000035 ! Abnormal testis morphology property_value: http://purl.org/dc/elements/1.1/date "2023-07-10T11:23:34Z" xsd:dateTime property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7651-2403 @@ -157153,7 +157207,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:0034947 name: Altered location of the longitudinal column in the fibrous sheath -def: "The fibrous sheath is a structure in the midpiece of the sperm flagellum surrounding the outer dense fibers. It comprises two longitudinal columns and tranverse ribs. In case of altered location of the longitudinal column in the fibrous sheath the symmetrical structure is lost, most commonly with the columns not being opposite to each other, which can be visualised by electron microscopy." [] +def: "The fibrous sheath is a structure in the midpiece of the sperm flagellum surrounding the outer dense fibers. It comprises two longitudinal columns and tranverse ribs. In case of altered location of the longitudinal column in the fibrous sheath the symmetrical structure is lost, most commonly with the columns not being opposite to each other, which can be visualized by electron microscopy." [] is_a: HP:0012868 ! Abnormal sperm tail morphology property_value: http://purl.org/dc/elements/1.1/date "2023-07-10T11:39:59Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -157446,7 +157500,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 id: HP:0034982 name: Perianal anethesia def: "Loss of sensation to the area of buttocks, perianal space and thighs." [] -comment: This feature may be observed with cauda equina syndrome as a collection of acute symptoms mostly occurring secondary to a large disc herniations leading to neuropathy of multiple lumbar and sacral nerve roots, or with spinal epidural abscess. +comment: This feature may be observed with cauda equina syndrome as a collection of acute symptoms mostly occurring secondary to a large disk herniations leading to neuropathy of multiple lumbar and sacral nerve roots, or with spinal epidural abscess. is_a: HP:0033747 ! Abnormal exteroceptive sensation property_value: http://purl.org/dc/elements/1.1/date "2023-07-16T13:02:39Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -157552,9 +157606,11 @@ replaced_by: HP:0034026 [Term] id: HP:0034995 -name: Reduced hepatic fructose-1,6-bisphosphatase activity -def: "Activity of fructose-1,6-bisphosphatase (EC 3.1.3.11) in the liver below the lower limit of normal." [] -is_a: HP:0034685 ! Abnormal liver enzyme activity or concentration +name: Reduced tissue fructose-1,6-bisphosphatase activity +def: "Activity of fructose-1,6-bisphosphatase (EC 3.1.3.11) below the lower limit of normal. The activity can be measured in multiple tissues including liver and leukocytes." [] +synonym: "Reduced hepatic fructose-1,6-bisphosphatase activity" EXACT [] +synonym: "Reduced leukocyte fructose-1,6-bisphosphatase activity" EXACT [] +is_a: HP:6000231 ! Abnormal tissue enzyme concentration or activity property_value: http://purl.org/dc/elements/1.1/date "2023-07-19T11:29:47Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -158309,11 +158365,11 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-531 [Term] id: HP:0040057 -name: Abnormality of nasal hair +name: Abnormal nasal hair morphology synonym: "Abnormality of nasal hair" EXACT layperson [] synonym: "Abnormality of nose hair" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4021858 -is_a: HP:0000366 ! Abnormality of the nose +is_a: HP:0005105 ! Abnormal nasal morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5316-1399 [Term] @@ -158887,7 +158943,9 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-531 [Term] id: HP:0040130 -name: Abnormal serum iron concentration +name: Abnormal circulating iron concentration +def: "The concentration of iron in the blood circulation is outside the limits of normal." [] +synonym: "Abnormal serum iron concentration" EXACT [] xref: UMLS:C0235760 is_a: HP:0011031 ! Abnormality of iron homeostasis property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5316-1399 @@ -158986,9 +159044,10 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-531 [Term] id: HP:0040142 -name: Reduced 5-oxoprolinase level -def: "Decreased level of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate." [PMID:6790862] +name: Reduced circulating 5-oxoprolinase activity +def: "Activity or concentration of 5-oxoprolinase in the blood circulation below the lower limit of normal. This enzyme catalyzes the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate." [PMID:6790862] synonym: "5-oxoprolinase deficiency" EXACT [] +synonym: "Reduced 5-oxoprolinase level" EXACT [] xref: MSH:C535322 xref: SNOMEDCT_US:26132002 xref: UMLS:C0268525 @@ -159046,7 +159105,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-531 [Term] id: HP:0040149 name: Woolly scalp hair -def: "The presence of woolly hair on the scalp. The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter." [PMID:20464096] +def: "The presence of wooly hair on the scalp. The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter." [PMID:20464096] synonym: "Afro-textured scalp hair" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Kinky scalp hair texture" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Nappy scalp hair texture" BROAD layperson [https://orcid.org/0000-0001-5889-4463] @@ -159428,7 +159487,8 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-531 id: HP:0040192 name: APUdoma def: "An endocrine tumor arising from an APUD cell." [] -synonym: "amine precursor uptake and decarboxylation tumours" EXACT [] +synonym: "amine precursor uptake and decarboxylation tumors" EXACT [] +synonym: "amine precursor uptake and decarboxylation tumours" EXACT uk_spelling [] xref: MSH:D001079 xref: SNOMEDCT_US:253008000 xref: SNOMEDCT_US:74926005 @@ -160103,7 +160163,7 @@ is_a: HP:0001952 ! Glucose intolerance id: HP:0040272 name: Hyperintensity of MRI T2 signal of the spinal cord def: "A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord." [https://orcid.org/0000-0002-0736-9199] -comment: Seen in a wide-ranging variety of spinal cord processes including; simple MR artefacts, congenital anomalies etc. Characterization of the abnormal areas of T2 signal as well as their appearance on other MR imaging sequences, when combined with clinical context and laboratory investigations, will often allow a unique diagnosis, or at least aid in narrowing the differential diagnosis. {xref="PMID:19527360"} +comment: Seen in a wide-ranging variety of spinal cord processes including; simple MR artifacts, congenital anomalies etc. Characterization of the abnormal areas of T2 signal as well as their appearance on other MR imaging sequences, when combined with clinical context and laboratory investigations, will often allow a unique diagnosis, or at least aid in narrowing the differential diagnosis. {xref="PMID:19527360"} xref: UMLS:C4280684 is_a: HP:0002143 ! Abnormal spinal cord morphology @@ -160337,9 +160397,12 @@ is_a: HP:0031795 ! Abnormal circulating glycerol level [Term] id: HP:0040303 -name: Decreased serum iron +name: Decreased circulating iron concentration +def: "The concentration of iron in the blood circulation is below the lower limit of normal." [PMID:36197985, PMID:36816471] +synonym: "Decreased serum iron" EXACT [] +synonym: "Hypoferremia" EXACT [] synonym: "Low serum iron" EXACT [] -is_a: HP:0040130 ! Abnormal serum iron concentration +is_a: HP:0040130 ! Abnormal circulating iron concentration [Term] id: HP:0040304 @@ -160860,7 +160923,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 id: HP:0041052 name: Agenesis of putamen def: "A developmental defect characterized by the absence of the putamen owing to its failure to develop." [PMID:31412107] -comment: The basal ganglia are symmetrical subcortical grey nuclei at the core of the extrapyramidal system, composed by the striatum (which comprises the putamen, caudate nucleus, olfactory tubercle, and nucleus accumbens), the pallidum, the substantia nigra, and the subthalamic nucleus. Congenital malformations of the basal ganglia deriving from defects of embryogenesis are very rare. The basal ganglia embryologically derive from the prosencephalon (or forebrain), the most rostral of the three vesicles originating from early patterning of the neural tube along the anterior-posterior axis. +comment: The basal ganglia are symmetrical subcortical gray nuclei at the core of the extrapyramidal system, composed by the striatum (which comprises the putamen, caudate nucleus, olfactory tubercle, and nucleus accumbens), the pallidum, the substantia nigra, and the subthalamic nucleus. Congenital malformations of the basal ganglia deriving from defects of embryogenesis are very rare. The basal ganglia embryologically derive from the prosencephalon (or forebrain), the most rostral of the three vesicles originating from early patterning of the neural tube along the anterior-posterior axis. is_a: HP:0031982 ! Abnormal putamen morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -162280,7 +162343,7 @@ def: "Concentration of the complement component C4 in the blood circulation belo synonym: "Decreased serum complement C4" EXACT [] synonym: "Decreased serum complement C4 level" EXACT [] xref: UMLS:C4073169 -is_a: HP:0004431 ! Complement deficiency +is_a: HP:0004431 ! Reduced circulating complement concentration property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5316-1399 [Term] @@ -162741,7 +162804,7 @@ synonym: "Neurilemmoma" EXACT [] synonym: "Neurinoma" EXACT [] synonym: "Neurolemmoma" EXACT [] synonym: "Schwann cell tumor" EXACT [] -synonym: "Schwann cell tumour" EXACT [] +synonym: "Schwann cell tumour" EXACT uk_spelling [] synonym: "Schwannomas" RELATED [https://orcid.org/0000-0002-5316-1399] xref: MSH:D009442 xref: SNOMEDCT_US:404022001 @@ -162906,7 +162969,7 @@ creation_date: 2010-05-28T11:36:49Z [Term] id: HP:0100021 name: Cerebral palsy -def: "Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems." [https://orcid.org/0009-0006-4530-3154] +def: "Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems." [https://orcid.org/0009-0006-4530-3154] synonym: "Cerebral paralysis" EXACT [] synonym: "CP" EXACT abbreviation [] xref: MSH:D002547 @@ -162938,7 +163001,7 @@ id: HP:0100023 name: Recurrent hand flapping def: "A type of repetitive behavior in which the affected individual repeatedly waves the hands and/or arms rhythmically." [] xref: UMLS:C4022387 -is_a: HP:5200018 ! Abnormal movements of the upper extremities +is_a: HP:5200018 ! Steroetypic upper-extremity movements property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153 @@ -165246,7 +165309,7 @@ creation_date: 2010-06-24T06:04:02Z [Term] id: HP:0100241 name: Ectopic respiratory mucosa -def: "Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations." [https://orcid.org/0009-0006-4530-3154] +def: "Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localized unilateral in the skin of the forearm and associated with ipsilateral hand malformations." [https://orcid.org/0009-0006-4530-3154] comment: Ectopic respiratory mucosa is a very rare finding and has been associated with unilateral skeletal malformation, most commonly with preaxial polydactyly which may be mirror-image like. xref: UMLS:C4022182 is_a: HP:0002973 ! Abnormal forearm morphology @@ -165660,7 +165723,7 @@ creation_date: 2010-07-28T05:37:31Z [Term] id: HP:0100274 name: Gustatory lacrimation -def: "Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal." [https://orcid.org/0009-0006-4530-3154] +def: "Gustatory lacrimation results from an aberrant innervation of fibers from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal." [https://orcid.org/0009-0006-4530-3154] comment: The aberrant innervation leading to this phenomenon may be seen for example as a hereditary trait in some patients with Branchio-oto-renal (BOR) syndrome in which case it may occur unilateral or bilateral, but it may also result from a secondary aberrant reinnervation following a peripheral facial palsy, in which case it is associated with uncontrollable ipsilateral tearing. In the past gustatory lacrimation was considered to be a very rare non-hereditary type of anomalous, cranial nerve-end organ innervation but rare occurences in patients with Branchio-oto-renal (BOR) syndrome have shown, that this feature may also appear as a hereditary condition. xref: UMLS:C1862052 is_a: HP:0000632 ! Lacrimation abnormality @@ -165838,7 +165901,7 @@ name: Hypertrophied muscle fibers def: "The presence of an increased amount of muscle fibers with an increased diameter. This feature can be ascertained by microscopic examination of a muscle biopsy sample. Together with fiber size variation and atrophied muscle fibers, and hypertrophied muscle fibers are commonly found in myopathies." [] comment: Muscle hypertrophy can be assessed at the whole-muscle level (macroscopic methods) or the muscle fiber level (microscopic methods). This term refers to hypertrophy assessed at the microscopic level. synonym: "Muscle fiber hypertrophy" EXACT [] -synonym: "Muscle fibre hypertrophy" EXACT [] +synonym: "Muscle fibre hypertrophy" EXACT uk_spelling [] xref: SNOMEDCT_US:42091004 xref: UMLS:C0333759 is_a: HP:0004303 ! Abnormal muscle fiber morphology @@ -165849,8 +165912,8 @@ creation_date: 2010-08-10T01:57:00Z id: HP:0100295 name: Muscle fiber atrophy alt_id: HP:0100294 +synonym: "Muscle fiber atrophy" EXACT [] synonym: "Muscle fiber degeneration" EXACT layperson [https://orcid.org/0000-0001-5208-3432] -synonym: "Muscle fibre atrophy" EXACT [] synonym: "Muscle fibre degeneration" EXACT uk_spelling [] xref: SNOMEDCT_US:67867005 xref: UMLS:C0333751 @@ -166184,7 +166247,7 @@ creation_date: 2010-08-10T04:14:42Z [Term] id: HP:0100326 name: Immunologic hypersensitivity -def: "Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens." [https://www.st-andrews.ac.uk/~gdk/bl4217web/Gp3%20Ref%20list/hypersensitivity%20printed.pdf] +def: "Immunological states where the immune system produces harmful responses upon reexposure to sensitizing antigens." [https://www.st-andrews.ac.uk/~gdk/bl4217web/Gp3%20Ref%20list/hypersensitivity%20printed.pdf] xref: UMLS:C0237653 is_a: HP:0010978 ! Abnormality of immune system physiology property_value: http://purl.org/dc/terms/creator https://orcid.org/0009-0006-4530-3154 @@ -166280,6 +166343,7 @@ creation_date: 2010-10-13T04:13:10Z [Term] id: HP:0100337 name: Bilateral cleft palate +alt_id: HP:0002744 def: "Nonmidline cleft palate on the left and right sides." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Bilateral palatoschisis" EXACT [https://orcid.org/0000-0001-5889-4463] @@ -169064,7 +169128,7 @@ def: "Fluid accumulation in the lungs." [https://orcid.org/0009-0006-4530-3154] synonym: "Excess fluid in lungs" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Lung edema" EXACT [] synonym: "Lung oedema" EXACT uk_spelling [] -synonym: "Pulmonary oedema" EXACT [] +synonym: "Pulmonary edema" EXACT [] synonym: "Wet lung" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D011654 xref: SNOMEDCT_US:19242006 @@ -169641,7 +169705,6 @@ id: HP:0100643 name: Abnormality of nail color def: "An anomaly of the color of the nail." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of nail color" EXACT layperson [] -synonym: "Abnormality of nail colour" EXACT layperson [] synonym: "Nail dyschromia" EXACT [] xref: UMLS:C4020960 is_a: HP:0001597 ! Abnormality of the nail @@ -169912,7 +169975,8 @@ name: Angioedema alt_id: HP:0100666 def: "Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis." [https://orcid.org/0009-0006-4530-3154] comment: Apart from the common form, mediated by allergy, it has been reported as a side effect of some medications, in particular ACE inhibitors. Additionally, there are three autosomal dominant inherited forms known, due to mutations in the genes that control the clotting cascade, including the SERPING1 gene, which results in deficiency of the blood protein C1-inhibitor (type I HAE) and the F12 gene, which controls Factor XII (type III HAE). There is an additional type in which C1 levels are normal but C1 function is decreased (type II HAE). All three forms are called hereditary angioedema (HAE) or occasionally by the outdated term 'hereditary angioneurotic edema' (HANE). In all forms of HAE, swelling may also occur in the digestive tract and other organs. It is life-threatening when it involves the larynx due to the potential for asphyxiation. -synonym: "Angioneurotic oedema" EXACT [] +synonym: "Angioneurotic edema" EXACT [] +synonym: "Angioneurotic oedema" EXACT uk_spelling [] synonym: "Angiooedema" EXACT [] synonym: "Quincke edema" EXACT [] synonym: "Quincke oedema" EXACT uk_spelling [] @@ -170112,7 +170176,7 @@ creation_date: 2010-12-30T02:20:38Z [Term] id: HP:0100685 name: Abnormal Sharpey fiber morphology -def: "An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone." [https://orcid.org/0000-0002-0736-9199] +def: "An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibers connecting periosteum to bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal Sharpey fibre morphology" EXACT uk_spelling [] synonym: "Abnormality of Sharpey fibers" EXACT [] synonym: "Abnormality of Sharpey fibres" EXACT uk_spelling [] @@ -170301,7 +170365,7 @@ def: "Pressing forward of the tongue in the mouth, a retained motoric habit from xref: SNOMEDCT_US:110343009 xref: SNOMEDCT_US:424583005 xref: UMLS:C1829460 -is_a: HP:5200017 ! Abnormal movements of face and head +is_a: HP:5200017 ! Steroetypic movements of face and head property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153 @@ -170435,8 +170499,7 @@ synonym: "Self injury" EXACT [] synonym: "Self-harm" EXACT [] synonym: "Self-injurious behavior" EXACT layperson [] synonym: "Self-injurious behaviors" EXACT [] -synonym: "Self-injurious behaviour" EXACT layperson [] -synonym: "Self-injurious behaviours" EXACT [] +synonym: "Self-injurious behaviours" EXACT uk_spelling [] xref: MSH:D016728 xref: SNOMEDCT_US:248062006 xref: UMLS:C0085271 @@ -171553,7 +171616,7 @@ def: "Noticeably unpleasant odors exhaled in breathing." [https://orcid.org/0009 subset: hposlim_core synonym: "Bad breath" EXACT layperson [] synonym: "Foetor ex ore" EXACT [] -xref: MEDDRA:10006326 "Breath odour" +xref: MEDDRA:10006326 "Breath odor" xref: MSH:D006209 xref: SNOMEDCT_US:79879001 xref: UMLS:C0018520 @@ -171772,7 +171835,7 @@ creation_date: 2011-06-09T05:46:50Z [Term] id: HP:0100832 name: Vitreous floaters -def: "Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent." [https://orcid.org/0009-0006-4530-3154] +def: "Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humor, which is normally transparent." [https://orcid.org/0009-0006-4530-3154] comment: Vitreous floaters are described as vitreous condensations (or vitreous debris or vitreous opacities) as a finding upon ophthalmological examination. Floaters can take many forms from little dots, circles, lines, to clouds or cobwebs. The floaters are created by a shadow of the floating vitreal debris that is projected onto the retina, which is described as a veil. synonym: "Eye floaters" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Flitting flies" EXACT [] @@ -172021,7 +172084,8 @@ id: HP:0100851 name: Abnormal emotion def: "Abnormalities in the intensity, frequency, or duration of emotional experiences." [] synonym: "Abnormal emotion processing" EXACT [] -synonym: "Abnormal emotion/affect behaviour" EXACT [] +synonym: "Abnormal emotion/affect behavior" EXACT [] +synonym: "Abnormal emotion/affect behaviour" EXACT uk_spelling [] synonym: "Abnormal mood/emotion/affect" EXACT [] synonym: "Abnormal mood/emotion/affect/thought" EXACT [] synonym: "Emotion dysregulation" EXACT [] @@ -172041,7 +172105,7 @@ name: Abnormal fear-induced behavior alt_id: HP:0001296 def: "An abnormal fear-induced behavior includes observable actions. This behavior is characterized by abnormal responses to fear or abnormal fear levels. Examples of such behavior include avoiding fear-inducing situations." [] comment: Internal responses to fear, which are experienced by an individual and do not necessarily involve clear behavioral changes (observable actions), should be labeled with a term for fear-related cognition, such as HP:5200230. -synonym: "Abnormal fear-induced behaviour" EXACT [] +synonym: "Abnormal fear-induced behavior" EXACT [] synonym: "Abnormal fear/anxiety-related behavior" EXACT [] synonym: "Abnormal fear/anxiety-related behaviour" EXACT uk_spelling [] xref: UMLS:C4018849 @@ -173148,8 +173212,8 @@ creation_date: 2012-01-18T06:05:24Z [Term] id: HP:0100962 -name: Shyness -comment: I'm not keen on this one. It makes sense that it's connected to a lot of literature, but there is no consistent definition. I'm unsure where to place it in the hierarchy. +name: Excessive shyness +def: "Atypically high degree of awkwardness or apprehension experienced when approaching or being approached by others." [] synonym: "Shyness" EXACT layperson [] xref: MSH:D012792 xref: UMLS:C0037020 @@ -174623,7 +174687,7 @@ is_a: HP:0012531 ! Pain id: HP:0410020 name: Fish odor def: "Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylamine (TMA) in the urine, sweat, and breath of affected individuals." [http://www.medicinenet.com/fish_odor_syndrome_trimethylaminuria/article.htm] -synonym: "Fish odour" EXACT layperson [] +synonym: "Fish odor" EXACT layperson [] synonym: "Fishy body odor" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Fishy body odour" EXACT uk_spelling [] synonym: "Fishy odor" EXACT layperson [] @@ -174635,7 +174699,6 @@ id: HP:0410021 name: Musty odor def: "Pungent body odor." [] synonym: "Musty odor" EXACT layperson [] -synonym: "Musty odour" EXACT layperson [] is_a: HP:0500001 ! Body odor [Term] @@ -174643,7 +174706,6 @@ id: HP:0410022 name: Vaginal fish odor def: "A fish odor in the vaginal area, that is characteristic of bacterial vaginosis (BV), and is due to trimethylamine (TMA)." [PMID:16086821] synonym: "Vaginal fish odor" EXACT layperson [] -synonym: "Vaginal fish odour" EXACT layperson [] is_a: HP:0410020 ! Fish odor [Term] @@ -175136,7 +175198,7 @@ id: HP:0410151 name: Eosinophilic infiltration of the esophagus def: "Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus." [PMID:27158535] synonym: "Eosinophilic esophagitis" EXACT [] -synonym: "Eosinophilic infiltration of the oesophagus" EXACT [] +synonym: "Eosinophilic infiltration of the esophagus" EXACT [] is_a: HP:0032064 ! Gastrointestinal eosinophilia is_a: HP:0100633 ! Esophagitis property_value: http://purl.org/dc/elements/1.1/date "2018-03-13T04:36:03Z" xsd:dateTime @@ -175148,7 +175210,7 @@ name: Eosinophilic microabscess formation in the esophagus def: "The formation of small localized collection of eosinophiles (an eosinophilic microabscess) in the esophagus. Usually clusters of greater than or equal to 4 eosinophils are seen, that appear as exudates or white spots or white plaques." [PMID:27158535] synonym: "Eosinophilic micro-abscess formation in the esophagus" EXACT [] synonym: "Eosinophilic micro-abscess formation in the oesophagus" EXACT uk_spelling [] -synonym: "Eosinophilic microabscess formation in the oesophagus" EXACT [] +synonym: "Eosinophilic microabscess formation in the esophagus" EXACT [] is_a: HP:0100633 ! Esophagitis property_value: http://purl.org/dc/elements/1.1/date "2018-03-13T04:43:53Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -175451,67 +175513,77 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 [Term] id: HP:0410192 -name: Abnormal uridine diphosphate glucose-4-epimerase level -def: "An abnormality in uridine diphosphate glucose-4-epimerase level, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose." [] -synonym: "Abnormal UDP-glucose 4-epimerase level" EXACT [] -is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity -property_value: http://purl.org/dc/elements/1.1/date "2018-05-21T18:22:02Z" xsd:dateTime -property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 +name: obsolete Abnormal uridine diphosphate glucose-4-epimerase level +is_obsolete: true +replaced_by: HP:0410193 [Term] id: HP:0410193 -name: Abnormal uridine diphosphate glucose-4-epimerase level in plasma +name: Abnormal circulating UDP glucose-4-epimerase concentration +alt_id: HP:0410192 def: "An abnormality in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose." [] +synonym: "Abnormal circulating uridine diphosphate glucose-4-epimerase concentration" EXACT [] synonym: "Abnormal UDP-glucose 4-epimerase activity level in plasma" EXACT [] -is_a: HP:0410192 ! Abnormal uridine diphosphate glucose-4-epimerase level +synonym: "Abnormal uridine diphosphate glucose-4-epimerase level in plasma" EXACT [] +is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity property_value: http://purl.org/dc/elements/1.1/date "2018-05-21T18:23:41Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410194 -name: Increased uridine diphosphate glucose-4-epimerase level in plasma +name: Increased circulating UDP glucose-4-epimerase concentration def: "An increase in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose." [] +synonym: "Increased circulating uridine diphosphate glucose-4-epimerase concentration" EXACT [] synonym: "Increased UDP-glucose 4-epimerase level in plasma" EXACT [] -is_a: HP:0410193 ! Abnormal uridine diphosphate glucose-4-epimerase level in plasma +synonym: "Increased uridine diphosphate glucose-4-epimerase level in plasma" EXACT [] +is_a: HP:0410193 ! Abnormal circulating UDP glucose-4-epimerase concentration property_value: http://purl.org/dc/elements/1.1/date "2018-05-21T18:23:47Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410195 -name: Decreased uridine diphosphate glucose-4-epimerase level in plasma +name: Decreased circulating UDP glucose-4-epimerase concentration def: "A decrease in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose." [] +synonym: "Decreased circulating uridine diphosphate glucose-4-epimerase concentration" EXACT [] +synonym: "Decreased UDP glucose-4-epimerase level in plasma" EXACT [] synonym: "Decreased UDP-glucose 4-epimerase level in plasma" EXACT [] -is_a: HP:0410193 ! Abnormal uridine diphosphate glucose-4-epimerase level in plasma +synonym: "Decreased uridine diphosphate glucose-4-epimerase level in plasma" EXACT [] +is_a: HP:0410193 ! Abnormal circulating UDP glucose-4-epimerase concentration property_value: http://purl.org/dc/elements/1.1/date "2018-05-21T18:23:54Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410196 -name: Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells +name: Abnormal erythrocyte UDP glucose-4-epimerase concentration def: "An abnormality in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose." [] +synonym: "Abnormal erythrocyte uridine diphosphate glucose-4-epimerase concentration" EXACT [] synonym: "Abnormal UDP-glucose 4-epimerase level in RBCs" EXACT abbreviation [] synonym: "Abnormal UDP-glucose 4-epimerase level in red blood cells" EXACT abbreviation [] -is_a: HP:0410192 ! Abnormal uridine diphosphate glucose-4-epimerase level +synonym: "Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells" EXACT [] +is_a: HP:0030272 ! Abnormal erythrocyte enzyme concentration or activity property_value: http://purl.org/dc/elements/1.1/date "2018-05-21T18:24:02Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410197 -name: Increased uridine diphosphate glucose-4-epimerase level in red blood cells +name: Increased erythrocyte UDP glucose-4-epimerase concentration def: "An increase in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose." [] synonym: "Increased UDP-glucose 4-epimerase level in RBCs" EXACT abbreviation [] synonym: "Increased UDP-glucose 4-epimerase level in red blood cells" EXACT abbreviation [] -is_a: HP:0410196 ! Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells +synonym: "Increased uridine diphosphate glucose-4-epimerase level in red blood cells" EXACT [] +is_a: HP:0410196 ! Abnormal erythrocyte UDP glucose-4-epimerase concentration property_value: http://purl.org/dc/elements/1.1/date "2018-05-21T18:24:12Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410198 -name: Decreased uridine diphosphate glucose-4-epimerase level in red blood cells +name: Decreased erythrocyte UDP glucose-4-epimerase concentration def: "A decrease in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose." [] +synonym: "Decreased erythrocyte uridine diphosphate glucose-4-epimerase concentration" EXACT [] synonym: "Decreased UDP-glucose 4-epimerase level in RBCs" EXACT abbreviation [] synonym: "Decreased UDP-glucose 4-epimerase level in red blood cells" EXACT abbreviation [] -is_a: HP:0410196 ! Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells +synonym: "Decreased uridine diphosphate glucose-4-epimerase level in red blood cells" EXACT [] +is_a: HP:0410196 ! Abnormal erythrocyte UDP glucose-4-epimerase concentration property_value: http://purl.org/dc/elements/1.1/date "2018-05-21T18:24:19Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -177702,7 +177774,7 @@ property_value: http://purl.org/dc/terms/date "2024-01-27T11:12:40Z" xsd:dateTim id: HP:0430051 name: Positive bloodstream pathogen-specific antibody positivity def: "Positive serology for a exposure to an infectious agent (i.e., examining serum for the presence of pathogen-specific antibodies)." [PMID:35889978] -is_a: HP:0430030 ! Positive infectious agent test +is_a: HP:0430150 ! Positive blood infectious agent test property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/date "2024-01-27T11:45:14Z" xsd:dateTime @@ -177831,7 +177903,7 @@ property_value: http://purl.org/dc/terms/date "2024-01-27T12:12:00Z" xsd:dateTim id: HP:0430067 name: Positive bloodstream nucleic acid pathogen test def: "Positive (abnormal) result of a test such as polymerase chain reaction that is targeted against a nucleic acid sequence specific for a pathogen." [] -is_a: HP:0430030 ! Positive infectious agent test +is_a: HP:0430150 ! Positive blood infectious agent test property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/date "2024-01-27T12:14:15Z" xsd:dateTime @@ -178066,7 +178138,7 @@ property_value: http://purl.org/dc/terms/date "2024-02-07T04:45:50Z" xsd:dateTim id: HP:0430094 name: CD5 expression def: "Detection of the presence of CD5 on the cell(s) of interest with the use of anti-CD5 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry)." [PMID:10889824] -comment: The CD5 antigen is expressed by most T cells and a subset of B cells. Human CD5 positive B cells are present in fetal lymphoid tissue, their frequency decreasing with fetal age. In adult human tissues, CD5 positive B cells have been reported to be present in the germinal centre and mantle zone. Malignancies of CD5 positive B cells include mantle cell lymphoma and chronic lymphocytic leukemia. +comment: The CD5 antigen is expressed by most T cells and a subset of B cells. Human CD5 positive B cells are present in fetal lymphoid tissue, their frequency decreasing with fetal age. In adult human tissues, CD5 positive B cells have been reported to be present in the germinal center and mantle zone. Malignancies of CD5 positive B cells include mantle cell lymphoma and chronic lymphocytic leukemia. is_a: HP:0430091 ! Marker expression property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/date "2024-02-07T04:47:44Z" xsd:dateTime @@ -178075,7 +178147,7 @@ property_value: http://purl.org/dc/terms/date "2024-02-07T04:47:44Z" xsd:dateTim id: HP:0430095 name: CD10 expression def: "Detection of the presence of CD10 on the cell(s) of interest with the use of anti-CD10 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry)." [PMID:11532038] -comment: The CD10 antigen is expressed in acute lymphoblastic leukaemia and follicle centre cell lymphoma. +comment: The CD10 antigen is expressed in acute lymphoblastic leukemia and follicle center cell lymphoma. is_a: HP:0430091 ! Marker expression property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/date "2024-02-07T04:50:08Z" xsd:dateTime @@ -178171,7 +178243,7 @@ property_value: http://purl.org/dc/terms/date "2024-02-11T08:13:09Z" xsd:dateTim [Term] id: HP:0430106 name: Abnormal brain-evoked potentials -def: "Any anomaly of brain-evoked potentials, defined as potentials generated by exteroceptive stimuli reflect synchronised activity by neuronal and axonal groups in the central nervous system (CNS) resulting from the arrival of nerve impulses after stimulation of a peripheral nerve or its receptors. Depending on the type of stimulus, evoked potentials are categorised as visual (VEP), auditory (AEP), or somatosensory (SSEP). Motor evoked potentials (MEP) occur when the brain's motor area is stimulated. They result from the activation of a sufficient number of motor units." [PMID:22995526] +def: "Any anomaly of brain-evoked potentials, defined as potentials generated by exteroceptive stimuli reflect synchronized activity by neuronal and axonal groups in the central nervous system (CNS) resulting from the arrival of nerve impulses after stimulation of a peripheral nerve or its receptors. Depending on the type of stimulus, evoked potentials are categorized as visual (VEP), auditory (AEP), or somatosensory (SSEP). Motor evoked potentials (MEP) occur when the brain's motor area is stimulated. They result from the activation of a sufficient number of motor units." [PMID:22995526] is_a: HP:0030178 ! Abnormality of central nervous system electrophysiology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/date "2024-02-11T17:19:38Z" xsd:dateTime @@ -178180,7 +178252,7 @@ property_value: http://purl.org/dc/terms/date "2024-02-11T17:19:38Z" xsd:dateTim id: HP:0430107 name: Sputum infectious agent def: "The presence of an infectious agent in the sputum, as characterized by sputum culture or other investigation." [PMID:33085342] -is_a: HP:0430030 ! Positive infectious agent test +is_a: HP:0430151 ! Positive respiratory tract infectious agent test property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/date "2024-02-11T17:56:17Z" xsd:dateTime @@ -178197,7 +178269,7 @@ property_value: http://purl.org/dc/terms/date "2024-02-11T17:58:07Z" xsd:dateTim id: HP:0430109 name: Positive bloodstream infectious agent antigen test def: "A test result demonstrating the presence of an antigen (marker such as a protein against which an antibody reacts) specific to an infectious agent." [] -is_a: HP:0430030 ! Positive infectious agent test +is_a: HP:0430150 ! Positive blood infectious agent test property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/date "2024-02-20T09:00:56Z" xsd:dateTime @@ -178481,13 +178553,77 @@ is_a: HP:6000441 ! Abnormal circulating interleukin 6 concentration property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/date "2024-03-02T09:10:08Z" xsd:dateTime +[Term] +id: HP:0430143 +name: Elevated circulating C12 acylcarnitine concentration +def: "Concentration of C12 acylcarnitines in the blood circulation above the upper limit of normal. C12 acylcarnitines have a twelve-carbon acyl chain." [] +is_a: HP:0035017 ! Elevated circulating medium-chain acylcarnitine concentration +property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 +property_value: http://purl.org/dc/terms/date "2024-03-07T11:19:00Z" xsd:dateTime + +[Term] +id: HP:0430144 +name: Frontalis muscle overactivity +def: "Increased activity of the frontalis muscle, causing a characteristic staring and astonished facial expression." [PMID:16353177] +is_a: HP:3000004 ! Abnormal frontalis muscle physiology +property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 +property_value: http://purl.org/dc/terms/date "2024-03-07T11:28:49Z" xsd:dateTime + +[Term] +id: HP:0430145 +name: Nasal dermoid cyst +def: "An ectodermal inclusion cyst containing skin and skin appendages; sebaceous glands, hair follicles, and occasionally sweat glands." [PMID:27895540] +is_a: HP:0005105 ! Abnormal nasal morphology +property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 +property_value: http://purl.org/dc/terms/date "2024-03-07T11:33:41Z" xsd:dateTime + +[Term] +id: HP:0430146 +name: Elevated circulating complement C3 concentration +def: "Concentration of the complement component C3 in the blood circulation above the upper limit of normal." [] +is_a: HP:6000474 ! Elevated circulating complement component concentration +property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 +property_value: http://purl.org/dc/terms/date "2024-03-08T09:59:21Z" xsd:dateTime + +[Term] +id: HP:0430147 +name: Abnormal circulating inhibin B concentration +def: "The concentration of inhibin B in the blood circulation is outside the limits of normal." [] +is_a: HP:0031099 ! Abnormal circulating inhibin level +property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 +property_value: http://purl.org/dc/terms/date "2024-03-09T15:44:41Z" xsd:dateTime + +[Term] +id: HP:0430148 +name: Abnormal circulating lipoprotein(a) concentration +def: "The concentration of lipoprotein(a) in the blood circulation is outside the limits of normal." [] +comment: Lipoprotein(a), also known as apolipoprotein(A), is encoded by LPA (HGNC:6667). +is_a: HP:0010980 ! Hyperlipoproteinemia +property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 +property_value: http://purl.org/dc/terms/date "2024-03-09T15:46:36Z" xsd:dateTime + +[Term] +id: HP:0430150 +name: Positive blood infectious agent test +def: "Any kind of test for an infectious agent in the blood circulation positive." [] +is_a: HP:0430030 ! Positive infectious agent test +property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 +property_value: http://purl.org/dc/terms/date "2024-03-18T13:21:31Z" xsd:dateTime + +[Term] +id: HP:0430151 +name: Positive respiratory tract infectious agent test +def: "Any kind of test for an infectious agent in the respiratory tract positive." [] +is_a: HP:0430030 ! Positive infectious agent test +property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 +property_value: http://purl.org/dc/terms/date "2024-03-18T13:22:49Z" xsd:dateTime + [Term] id: HP:0500001 name: Body odor def: "A perceived unpleasant smell given off by the body." [https://orcid.org/0000-0002-0736-9199] synonym: "BO" EXACT abbreviation [] synonym: "Body odor" EXACT layperson [] -synonym: "Body odour" EXACT [] synonym: "Bromhidrosis" EXACT [http://emedicine.medscape.com/article/1072342-overview] synonym: "Bromidrosis" EXACT [http://emedicine.medscape.com/article/1072342-overview] synonym: "Osmidrosis" EXACT [http://emedicine.medscape.com/article/1072342-overview] @@ -179018,7 +179154,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-794 [Term] id: HP:0500070 name: Conjunctival dermolipoma -def: "A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus." [https://orcid.org/0000-0003-0986-4123] +def: "A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimeters posterior to the limbus." [https://orcid.org/0000-0003-0986-4123] is_a: HP:0000502 ! Abnormal conjunctiva morphology property_value: http://purl.org/dc/elements/1.1/date "2018-02-26T17:48:12Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-7941-2961 @@ -179099,8 +179235,8 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-794 [Term] id: HP:0500086 name: Optic nerve gray crescent -def: "Having a characteristic appearance of a slate gray area of pigmentation within the disc margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas." [PMID:24862768] -comment: This type of disc rim pigmentation can create the impression of neuroretinal rim thinning, and thus lead to the misdiagnosis of glaucoma or "glaucoma suspect" with attendant implications for overtreatment or unnecessary close monitoring of such patients. {xref="PMID:24862768"} +def: "Having a characteristic appearance of a slate gray area of pigmentation within the disk margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas." [PMID:24862768] +comment: This type of disk rim pigmentation can create the impression of neuroretinal rim thinning, and thus lead to the misdiagnosis of glaucoma or "glaucoma suspect" with attendant implications for overtreatment or unnecessary close monitoring of such patients. {xref="PMID:24862768"} synonym: "Optic nerve grey crescent" EXACT uk_spelling [] synonym: "Temporal gray pigmentary crescent" EXACT [] synonym: "Temporal grey pigmentary crescent" EXACT uk_spelling [] @@ -179144,7 +179280,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-794 [Term] id: HP:0500091 name: Lymphangioma of the orbit -def: "A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva manoeuvre. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to haemorrhage." [ISBN-13:978-0199679980] +def: "A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva maneuver. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to hemorrhage." [ISBN-13:978-0199679980] is_a: HP:0030670 ! Hamartoma of the orbital region is_a: HP:0100764 ! Lymphangioma property_value: http://purl.org/dc/elements/1.1/date "2018-03-27T14:55:41Z" xsd:dateTime @@ -180662,8 +180798,8 @@ creation_date: 2015-02-26T03:38:57Z [Term] id: HP:3000004 -name: Abnormality of frontalis muscle belly -def: "An abnormality of a frontalis muscle belly." [] +name: Abnormal frontalis muscle physiology +def: "Abnormal function of the frontalis muscle, which covers parts of the forehead and is responsible for raising the eyebrows." [PMID:32491684] xref: UMLS:C4073213 is_a: HP:0000290 ! Abnormality of the forehead is_a: HP:0040172 ! Abnormality of occipitofrontalis muscle @@ -181512,7 +181648,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:4000008 name: Formation of multiple pronuclei during fertilization -def: "Pronuclei formation is a critical process during fertilisation. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilisation. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilisation with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI." [PMID:26550358, PMID:31704776] +def: "Pronuclei formation is a critical process during fertilization. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilization. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilization with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI." [PMID:26550358, PMID:31704776] comment: Three pro-nuclei (3PN) prevalence among all pregnancies has been estimated to be approximately 1% to 3%, whereas it accounts for 15% to 18% of cytogenetically abnormal cases among spontaneous abortions. is_a: HP:0033335 ! Abnormal preimplantation embryonic development property_value: http://purl.org/dc/elements/1.1/date "2021-04-25T23:27:41Z" xsd:dateTime @@ -181675,7 +181811,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:4000027 -name: anti-LAD-1 antibody positivity +name: Anti-LAD-1 antibody positivity def: "The presence of autoantibodies (immunoglobulins) in the serum that react against LAD-1, which is the soluble 120 kDa ectodomain of BP180." [] comment: Bullous pemphigoid (BP) is an autoimmune blistering skin disease characterized by an autoimmune response to type XVII collagen (BP180). The generation of anti-BP180-NC16A IgG autoantibodies is considered to be central to the pathogenesis of BP, in part due to the close correlation between serum concentration and disease activity. However, about 60% of BP patients also generate IgG autoantibodies against LAD-1. is_a: HP:0030057 ! Autoimmune antibody positivity @@ -181918,7 +182054,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:4000056 name: Abnormal apoptosis -def: "Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterised by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighbouring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response." [PMID:11420279] +def: "Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterized by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighboring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response." [PMID:11420279] is_a: HP:0011017 ! Abnormal cellular physiology property_value: http://purl.org/dc/elements/1.1/date "2021-05-02T21:53:27Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 @@ -182206,7 +182342,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-073 [Term] id: HP:4000085 name: Reduced object sharing -def: "An absence or reduction in object sharing. Object sharing is an early emerging social skill in which a child will share objects such as toys, balls, or books with parents or peers during object play. Object sharing typically develops within the first two years of life." [PMID:26803417] +def: "An absence or reduction in object sharing. Object sharing is an early emerging social skill in which a child will share objects such as toys, balls, or books with parents or peers during object play." [PMID:26803417] comment: This term should not be applied to children younger than one year of life. is_a: HP:5200027 ! Infrequent social initiations property_value: http://purl.org/dc/elements/1.1/date "2022-03-02T16:59:59Z" xsd:dateTime @@ -182271,7 +182407,7 @@ property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002 [Term] id: HP:4000092 name: Poor conversational reciprocity -def: "Reduced ability to conduct a reciprocal (back and forth) conversation, as expected for language level." [] +def: "Reduced use of reciprocal (back and forth) conversation, as compared to what would be expected for language level." [] comment: Poor conversational reciprocity may be characterized by deficits in the ability to make comments about discussion topics of others, failure to ask questions, and not building a conversation on comments of others. Affected persons may not know what to say next in a conversation, may not notice if others are bored with a given topic, may conduct a one-sided conversation (talking but not listening), or may veer off topic more than is socially acceptable. synonym: "Failure of normal back-and-forth conversation" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389] is_a: HP:5200128 ! Deficit applying language skills across context @@ -183013,7 +183149,7 @@ property_value: http://purl.org/dc/elements/1.1/date "2023-09-17T14:26:14Z" xsd: id: HP:4000195 name: Abnormal enzyme activity in cultured fibroblasts def: "Concentration or activity of an enzyme is above or below the limits of normal in cultured fibroblasts. Fibroblasts are easy to grow in culture and are the main cell type involved in producing extracellular matrix. They are used as a convenient model system for measuring enzyme activity for enzymes that are not expressed in blood cells. Usually, the test is done in fibroblasts for convenience rather than for the investigation of a pathophysiology specific to fibroblasts." [] -is_a: HP:6000231 ! Abnormal tissue enzyme activity +is_a: HP:6000231 ! Abnormal tissue enzyme concentration or activity property_value: http://purl.org/dc/elements/1.1/date "2023-09-17T14:31:02Z" xsd:dateTime [Term] @@ -183042,7 +183178,7 @@ property_value: http://purl.org/dc/terms/date "2023-09-17T15:02:26Z" xsd:dateTim id: HP:4000199 name: Reduced erythrocyte porphobilinogen deaminase activity def: "Activity or concentration of in the level of porphobilinogen deaminase (EC 4.3.1.8) in erythrocytes below the lower limit of normal." [] -is_a: HP:0030272 ! Abnormal erythrocyte enzyme level +is_a: HP:0030272 ! Abnormal erythrocyte enzyme concentration or activity property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/date "2023-09-17T15:06:27Z" xsd:dateTime @@ -183074,7 +183210,7 @@ property_value: http://purl.org/dc/terms/date "2023-09-17T15:29:26Z" xsd:dateTim id: HP:4000203 name: Reduced erythrocyte arginase activity def: "Activity or concentration of arginase (EC 3.5.3.1) in red blood cells below the lower limit of normal. Arginase catalyzes the last step of the urea cycle." [] -is_a: HP:0030272 ! Abnormal erythrocyte enzyme level +is_a: HP:0030272 ! Abnormal erythrocyte enzyme concentration or activity property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/date "2023-09-17T15:31:59Z" xsd:dateTime @@ -183119,7 +183255,7 @@ id: HP:4000208 name: Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity def: "Activity or concentration of in the level of galactose-1-phosphate uridylyltransferase (GALT; EC 2.7.7.12) in erythrocytes below the lower limit of normal." [] comment: Galactose-1-phosphate uridylyltransferase is the second enzyme in the galactose metabolic pathway. -is_a: HP:0030272 ! Abnormal erythrocyte enzyme level +is_a: HP:0030272 ! Abnormal erythrocyte enzyme concentration or activity property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/date "2023-09-17T22:04:45Z" xsd:dateTime @@ -183127,7 +183263,7 @@ property_value: http://purl.org/dc/terms/date "2023-09-17T22:04:45Z" xsd:dateTim id: HP:4000209 name: Abnormal erythrocyte adenosine deaminase activity def: "Activity of adenosine deaminase in red blood cells outside the limits of normal." [] -is_a: HP:0030272 ! Abnormal erythrocyte enzyme level +is_a: HP:0030272 ! Abnormal erythrocyte enzyme concentration or activity property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/date "2023-09-17T22:06:20Z" xsd:dateTime @@ -183623,7 +183759,7 @@ property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003 id: HP:5200006 name: Loose association def: "Speech characterized by weak (e.g. tangential/circumstantial) or absent (e.g. word salad) connections between ideas." [] -is_a: HP:5200235 ! Thought disorder +is_a: HP:5200235 ! Disorganized speech or communication property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-5395-5036 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-6886-767X property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8423-2623 @@ -183660,7 +183796,7 @@ property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003 id: HP:5200009 name: Midline hand movements def: "Hand stereotypies within the medial plane of the body." [PMID:28838622] -is_a: HP:5200018 ! Abnormal movements of the upper extremities +is_a: HP:5200018 ! Steroetypic upper-extremity movements property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153 @@ -183740,9 +183876,9 @@ property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002 [Term] id: HP:5200017 -name: Abnormal movements of face and head +name: Steroetypic movements of face and head def: "Abnormal movements of face and head." [] -is_a: HP:0000733 ! Abnormal repetitive mannerisms +is_a: HP:0000733 ! Motor stereotypy property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153 @@ -183751,9 +183887,9 @@ property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003 [Term] id: HP:5200018 -name: Abnormal movements of the upper extremities +name: Steroetypic upper-extremity movements def: "Abnormal movements of the upper extremities." [] -is_a: HP:0000733 ! Abnormal repetitive mannerisms +is_a: HP:0000733 ! Motor stereotypy property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153 @@ -183762,9 +183898,9 @@ property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003 [Term] id: HP:5200019 -name: Abnormal movements of the whole body +name: Stereotypic whole-body movements def: "Abnormal movements of the whole body." [] -is_a: HP:0000733 ! Abnormal repetitive mannerisms +is_a: HP:0000733 ! Motor stereotypy property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153 @@ -183838,9 +183974,9 @@ replaced_by: HP:5200021 id: HP:5200026 name: Impaired social imitation alt_id: HP:5200032 -def: "A reduced ability to imitate a task or the movements of others." [PMID:18221343] -comment: The ability to imitate others is common in children during early cognitive development (4-5 years old) and can be abnormal in children with autism. -synonym: "Dcreased imitation of others" NARROW [] +def: "Reduced use of imitation of tasks or movements of others in play or learning." [PMID:18221343] +comment: The ability to imitate others is common in children during early cognitive development (4-5 years old) and can be abnormal in children with developmental delay. +synonym: "Decreased imitation of others" NARROW [] synonym: "Reduced immediate imitation of others" NARROW [] is_a: HP:0012760 ! Reduced social reciprocity property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9112-5148 @@ -183949,7 +184085,7 @@ property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002 [Term] id: HP:5200037 -name: Lack of expressed empath +name: Lack of expressed empathy def: "This term refers to the observation that an affected person tends not to provide situationally appropriate responses to other people in times when these people are in emotional need. For instance, failure to provide comfort to a person who is sad or crying." [PMID:23929944, PMID:37852203] comment: Empathy can be defined as the ability to explain, predict and interpret behavior by attributing mental states such as desire, beliefs, intentions and emotions to oneself and to other people. Empathy cannot be directly observed. synonym: "Lack of empathy" EXACT [] @@ -184076,7 +184212,7 @@ id: HP:5200050 name: Excessive checking def: "Checking behavior that is excessive for the situational context." [PMID:31016439] synonym: "Checking behaviors" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] -synonym: "Checking behaviours" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] +synonym: "Checking behaviours" EXACT uk_spelling [] is_a: HP:0000722 ! Compulsive behaviors property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 @@ -184297,7 +184433,7 @@ id: HP:5200069 name: Spinning def: "An excessive frequency of spinning one's body." [] synonym: "Twirling" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] -is_a: HP:5200019 ! Abnormal movements of the whole body +is_a: HP:5200019 ! Stereotypic whole-body movements is_a: HP:5200066 ! Vestibular sensory seeking property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 @@ -184356,7 +184492,7 @@ is_a: HP:0012760 ! Reduced social reciprocity id: HP:5200103 name: Reduced social responsiveness def: "Atypically low ability to process social information and respond appropriately in interpersonal interactions" [PMID:34924788] -comment: This feature may be inferred based on a parents perception that a child has difficulties interpreting social cues accurately. Attempts to quantify this feature have included the Social Responsiveness Scale. Individuals with autism spectrum disorder, social anxiety disorder, or other developmental or mental health disorders may display reduced social responsiveness +comment: This feature may be inferred based on a parent's perception that a child has difficulties interpreting social cues accurately. Attempts to quantify this feature have included the Social Responsiveness Scale. Individuals with autism spectrum disorder, social anxiety disorder, or other developmental or mental health disorders may display reduced social responsiveness is_a: HP:0012433 ! Abnormal social behavior [Term] @@ -184399,7 +184535,7 @@ is_a: HP:5200120 ! Abnormal social emotional interactions [Term] id: HP:5200113 name: Failure to offer information to initiate social interaction -def: "An atypically low tendency to offer information as a means to initiate social interactions or direct another's attention." [] +def: "An atypically low tendency to offer information as a means to initiate or sustain social interactions or direct another's attention." [] comment: This term refers specifically to offering information in order to initiate social interactions and should not be applied to a person who is reluctant to offer information when prompted. is_a: HP:5200027 ! Infrequent social initiations @@ -184428,7 +184564,7 @@ is_a: HP:5200021 ! Reduced social insight [Term] id: HP:5200120 name: Abnormal social emotional interactions -def: "Social emotional interactions refer to the exchange of feelings during social interactions by means of a wide range of communicative behaviors including facial expressions, body langauge, and verbal communication. This term refers to an atypically low production of emotion social communication by an individual." [] +def: "Social emotional interactions refer to the exchange of feelings during social interactions by means of a wide range of communicative behaviors including facial expressions, body language, and verbal communication. This term refers to an atypically low production of emotion social communication by an individual." [] synonym: "Abnormality in emotional social interactions" EXACT [] is_a: HP:0012433 ! Abnormal social behavior @@ -184530,7 +184666,7 @@ def: "An excessive frequency of jumping in place." [] synonym: "Bouncing" EXACT [] synonym: "Hopping" EXACT [] synonym: "Pogo-ing" EXACT [] -is_a: HP:5200019 ! Abnormal movements of the whole body +is_a: HP:5200019 ! Stereotypic whole-body movements is_a: HP:5200066 ! Vestibular sensory seeking [Term] @@ -184833,7 +184969,7 @@ id: HP:5200227 name: Thought blocking def: "The interruption of speech causes an abnormal period of silence, followed by a sudden switch to an unrelated topic. Some may describe the experience as an abrupt emptying of the mind or the belief that an external force removed their thoughts from their head." [PMID:24261209] synonym: "Thought-blocking" EXACT [] -is_a: HP:5200235 ! Thought disorder +is_a: HP:5200235 ! Disorganized speech or communication property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-5395-5036 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-6886-767X property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8423-2623 @@ -184904,7 +185040,7 @@ synonym: "Clang associations" EXACT [] synonym: "Distracted speech" EXACT [] synonym: "Rhyming puns" EXACT [] synonym: "Tangential speech" EXACT [] -is_a: HP:5200235 ! Thought disorder +is_a: HP:5200235 ! Disorganized speech or communication property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-5395-5036 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-6886-767X property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8423-2623 @@ -184915,8 +185051,9 @@ property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002 [Term] id: HP:5200235 -name: Thought disorder +name: Disorganized speech or communication def: "An abnormal or disorganized way of communicating that appears to be the result of disorganized thought." [PMID:30416391;PMID\:31582814] +synonym: "Thought disorder" RELATED [] is_a: HP:4000072 ! Abnormal language feature property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-5395-5036 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-6886-767X @@ -185044,7 +185181,7 @@ name: Pressured speech def: "There has been an increase in the amount of spontaneous speech, which is generally continuous, rapid, loud, and difficult to interrupt. It may sometimes be incoherent and continue even when no one is listening." [] synonym: "Excessive speech output" EXACT [] is_a: HP:0031434 ! Abnormal prosody -is_a: HP:5200235 ! Thought disorder +is_a: HP:5200235 ! Disorganized speech or communication property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-1111-7357 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7954-5235 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2897-0458 @@ -185496,7 +185633,8 @@ id: HP:5200321 name: Increase in sexual behavior def: ".An abnormal increase of libido (sexual desire), typically accompanied by a higher frequency of sexual activity compared to from a person's previous norm." [PMID:24001164, PMID:26851616] comment: Engaging in riskier sexual practices, experiencing a significant increase in frequency, having multiple sexual partners, or spending excessive time on sexual activities can become disproportionate to other aspects of a person's life. -synonym: "Increased sexual behaviour" EXACT [] +synonym: "Increased sexual behavior" EXACT [] +synonym: "Increased sexual behaviour" EXACT uk_spelling [] is_a: HP:0008768 ! Abnormal sexual behavior is_a: HP:5200212 ! Increase in social interactions property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-5395-5036 @@ -185553,7 +185691,8 @@ property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002 id: HP:5200327 name: Diminishment of sexual behavior def: "A reduction of libido (sexual desire), typically accompanied by a reduction in the frequency of sexual activity , and/or activity compared to the affected individual's previous state." [PMID:36735118] -synonym: "Decreased sexual behaviour" EXACT [] +synonym: "Decreased sexual behavior" EXACT [] +synonym: "Decreased sexual behaviour" EXACT uk_spelling [] synonym: "Hyposexuality" EXACT [] is_a: HP:0008768 ! Abnormal sexual behavior is_a: HP:5200310 ! Diminishment of social interactions @@ -186617,7 +186756,7 @@ property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-onto [Term] id: HP:6000024 name: Synesthesia -def: "A phenomenon whereby stimulation of one sensory or cognitive pathway leads to automatic, involuntary experiences in a second sensory or cognitive pathway. For instance, people with synaesthesia may experience unusual colours, tastes, and other sensations when engaged in everyday activities like reading or listening to music." [PMID:32114456] +def: "A phenomenon whereby stimulation of one sensory or cognitive pathway leads to automatic, involuntary experiences in a second sensory or cognitive pathway. For instance, people with synaesthesia may experience unusual colors, tastes, and other sensations when engaged in everyday activities like reading or listening to music." [PMID:32114456] is_a: HP:0011446 ! Abnormality of mental function property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10247 @@ -186635,7 +186774,7 @@ property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-onto [Term] id: HP:6000026 name: History of spicy food intake -def: "A history of high intake of spciy foods with ingrediaents such as capsaicin, pepper, chilli, ginger, garlic, onion, fenugreek, and turmeric." [] +def: "A history of high intake of spciy foods with ingrediaents such as capsaicin, pepper, chili, ginger, garlic, onion, fenugreek, and turmeric." [] is_a: HP:4000123 ! Nutrition history property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10152 @@ -187065,7 +187204,7 @@ property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-onto [Term] id: HP:6000076 name: Renal vasculitis -def: "Vasculitis (inflammation of blood vessels) in the kidney. Renal vasculitis can be observed with numerous disorders and presents clinically as rapidly progressive glomerulonephritis (RPGN) which is characterised by acute kidney injury (AKI), haematuria and proteinuria. Histological examination of the kidney reveals severe inflammation in the form of crescent formation, glomerular necrosis and vasculitis of small and medium sized vessels within the kidney." [PMID:31927782] +def: "Vasculitis (inflammation of blood vessels) in the kidney. Renal vasculitis can be observed with numerous disorders and presents clinically as rapidly progressive glomerulonephritis (RPGN) which is characterized by acute kidney injury (AKI), haematuria and proteinuria. Histological examination of the kidney reveals severe inflammation in the form of crescent formation, glomerular necrosis and vasculitis of small and medium sized vessels within the kidney." [PMID:31927782] is_a: HP:0033835 ! Abnormal renal vascular morphology property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/9413 @@ -187492,7 +187631,7 @@ id: HP:6000125 name: Elevated urinary dolichol level def: "The amount of dolichol in the urine, normalized for urine concentration, is above the upper limit of normal." [] synonym: "Dolichol levels high in urine" EXACT [] -is_a: HP:0033354 ! Abnormal urine metabolite level +is_a: HP:6000531 ! Abnormal urinary organic compound level property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8796 @@ -187554,7 +187693,7 @@ id: HP:6000132 name: Reduced erythrocyte gamma-glutamyl cysteine synthetase activity def: "Activity of gamma-glutamylcysteine synthetase (EC 6.3.2.2) in erythrocytes below the lower limit of normal." [PMID:12663448] synonym: "Gamma-glutamyl cysteine synthetase low in erythrocytes" EXACT [] -is_a: HP:0030272 ! Abnormal erythrocyte enzyme level +is_a: HP:0030272 ! Abnormal erythrocyte enzyme concentration or activity property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/7940 @@ -188416,9 +188555,10 @@ property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-onto [Term] id: HP:6000231 -name: Abnormal tissue enzyme activity +name: Abnormal tissue enzyme concentration or activity def: "Concentration of an enyzme in a tissue is above or between the limit of normal. This term is intended to be used for enzymes that can be measured in multiple tissues other than blood." [] comment: For enzymes measured in the blood circulation, the term Abnormal circulating enzyme concentration or activity should be used. +synonym: "Abnormal tissue enzyme activity" EXACT [] is_a: HP:0034684 ! Abnormal enzyme concentration or activity property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/9113 @@ -188488,7 +188628,7 @@ property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-onto id: HP:6000239 name: Elevated circulating tumor necrosis factor alpha concentration def: "The concentration of tumor necrosis factor alpha in the blood circulation is above the upper limit of normal." [PMID:2791581] -is_a: HP:0011112 ! Abnormality of serum cytokine level +is_a: HP:0011112 ! Abnormal circulating cytokine concentration property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8330 @@ -188513,7 +188653,7 @@ id: HP:6000242 name: Decreased circulating complement component 1s concentration def: "The concentration of complement component 1s (C1s) in the blood circulation is below the lower limit of normal." [] synonym: "C1s low in blood" EXACT [] -is_a: HP:0004431 ! Complement deficiency +is_a: HP:0004431 ! Reduced circulating complement concentration property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8335 @@ -189156,7 +189296,7 @@ property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-onto [Term] id: HP:6000317 name: Mosaic attenuation pattern in lung -def: "Mosaic attenuation pattern in the lung is a term used to describe regions of differing pulmonary attenuation on CT imaging. It is a non-specific finding, although is associated with several conditions such as obstructive small airway disease, occlusive vascular disease (in which case is called mosaic perfusion pattern), pulmonary oedema, and parenchymal diseases." [] +def: "Mosaic attenuation pattern in the lung is a term used to describe regions of differing pulmonary attenuation on CT imaging. It is a non-specific finding, although is associated with several conditions such as obstructive small airway disease, occlusive vascular disease (in which case is called mosaic perfusion pattern), pulmonary edema, and parenchymal diseases." [] is_a: HP:0031983 ! Abnormal pulmonary thoracic imaging finding property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4095-8489 property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/7702 @@ -189427,7 +189567,7 @@ property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-onto id: HP:6000349 name: Reduced tissue tissue AICAR transformylase activity def: "Concentration or activity of 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase; EC 2.1.2.3) a in a tissue is below the lower limit of normal." [PMID:15114530] -is_a: HP:6000231 ! Abnormal tissue enzyme activity +is_a: HP:6000231 ! Abnormal tissue enzyme concentration or activity property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8326 @@ -189462,7 +189602,7 @@ name: Reduced tissue argininosuccinate synthetase activity def: "Concentration of argininosuccinate synthetase (EC 6.3.4.5) in body tissues is below the lower limit of normal. Clinically, argininosuccinate synthetase is measured in the liver or in cultered skin fibroblasts." [PMID:28111830] synonym: "Reduced argininosuccinate synthetase activity in cultured fibroblasts" EXACT [] synonym: "Reduced hepatic argininosuccinate synthetase activity" EXACT [] -is_a: HP:6000231 ! Abnormal tissue enzyme activity +is_a: HP:6000231 ! Abnormal tissue enzyme concentration or activity property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/9066 @@ -189488,7 +189628,7 @@ name: Reduced tissue medium-chain acyl-CoA dehydrogenase activity def: "Concentration or activity of medium-chain acyl-CoA dehydrogenase (EC 1.3.8.7;MCAD) in tissues is below the lower limit of normal." [PMID:2393404] synonym: "Reduced MCAD activity in cultured fibroblasts" EXACT [] synonym: "Reduced medium-chain acyl-CoA dehydrogenase activity in cultured fibroblasts" EXACT [] -is_a: HP:6000231 ! Abnormal tissue enzyme activity +is_a: HP:6000231 ! Abnormal tissue enzyme concentration or activity property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/9069 @@ -189521,7 +189661,7 @@ id: HP:6000360 name: Reduced tissue alpha-N-acetylglucosaminidase activity def: "Concentration or activity of alpha-N-acetylglucosaminidase (EC 3.2.1.50) below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. It is also known as alpha-acetylglucosaminidase, N-acetyl-alpha-D-glucosaminidase, N-acetyl-alpha-glucosaminidase, and alpha-D-2-acetamido-2-deoxyglucosidase." [PMID:12202988] comment: Pathogenic variants in the gene encoding N-alpha-acetylglucosaminidase (NAGLU) cause Sanfilippo syndrome B (mucopolysaccharidosis type IIIB). -is_a: HP:6000231 ! Abnormal tissue enzyme activity +is_a: HP:6000231 ! Abnormal tissue enzyme concentration or activity property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/7933 @@ -189638,7 +189778,7 @@ property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-onto id: HP:6000374 name: Increased circulating interleukin 1beta concentration def: "An increased concentration of interleukin-1beta in the blood circulation." [] -is_a: HP:0030782 ! Abnormal circulating interleukin concentration +is_a: HP:0011117 ! Abnormal circulating interleukin concentration property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8343 @@ -189919,7 +190059,7 @@ id: HP:6000407 name: Elevated circulating fibroblast growth factor 23 concentration def: "The concentration of fibroblast growth factor 23 in the blood circulation is above the upper limit of normal." [PMID:29892265] comment: Fibroblast growth factor-23 (FGF23) is a bone-derived hormone suppressing phosphate reabsorption and vitamin D hormone synthesis in the kidney. -is_a: HP:0003117 ! Abnormal circulating hormone concentration +is_a: HP:6000489 ! Abnormal circulating fibroblast growth factor 23 concentration property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8418 @@ -190113,7 +190253,7 @@ id: HP:6000430 name: Reduced tissue acetyl-CoA carboxylase activity def: "Activity of acetyl-CoA carboxylase in the tissues below the lower limit of normal. The activity can be measured in multiple tissues including liver." [PMID:34552920] synonym: "Reduced hepatic acetyl-CoA carboxylase activity" EXACT [] -is_a: HP:6000231 ! Abnormal tissue enzyme activity +is_a: HP:6000231 ! Abnormal tissue enzyme concentration or activity property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/9391 @@ -190162,7 +190302,7 @@ property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-onto id: HP:6000436 name: Elevated circulating ghrelin concentration def: "The concentration of ghrelin in the blood circulation is above the upper limit of normal. Ghrelin is a 28-amino-acid peptide predominantly secreted in the stomach and stimulates appetite and growth hormone (GH) release." [PMID:29632576] -comment: Ghrelin exercises a wide range of functions including, regulation of food intake and energy metabolism, stimulation of gastric acid secretion, motility and pancreatic protein output, modulation of cardiovascular function, stimulation of osteoblast proliferation and bone formation, stimulation of neurogenesis and myogenesis, learning and memory, thymopoiesis, sleep/wake rhythm, ageing and a neuroprotective role in neurodegenerative diseases (e.g., Parkinson's disease). +comment: Ghrelin exercises a wide range of functions including, regulation of food intake and energy metabolism, stimulation of gastric acid secretion, motility and pancreatic protein output, modulation of cardiovascular function, stimulation of osteoblast proliferation and bone formation, stimulation of neurogenesis and myogenesis, learning and memory, thymopoiesis, sleep/wake rhythm, aging and a neuroprotective role in neurodegenerative diseases (e.g., Parkinson's disease). is_a: HP:0003117 ! Abnormal circulating hormone concentration property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8425 @@ -190190,7 +190330,7 @@ name: Increased circulating interleukin 15 concentration def: "The concentration of interleukin 15 (IL-15) in the blood circulation is above the upper limit of normal." [PMID:22064066] comment: Interleukin-15 (IL-15) is a pleiotropic cytokine with a broad range of biological functions in many diverse cell types. synonym: "IL-15 high in blood" EXACT [] -is_a: HP:0030782 ! Abnormal circulating interleukin concentration +is_a: HP:0011117 ! Abnormal circulating interleukin concentration property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8429 @@ -190208,7 +190348,7 @@ id: HP:6000441 name: Abnormal circulating interleukin 6 concentration def: "Any deviation from the normal range of the concentration of interleukin 6 (IL-6) in the blood circulation." [PMID:32235786] comment: IL-6 is a pleiotropic cytokine with functions such as production of acute phase proteins in the liver, haematopoiesis, osteoclast activation, proliferation and differentiation of B lymphocytes and also the induction of fever in the brain. IL-6 behaves both as a cytokine and myokine in the immune system, affecting many auto-immune diseases. IL-6 is well-known for its effects in diabetes, atherosclerosis, prostate cancer, encephalitis and also rheumatoid arthritis, acting as a pro-inflammatory cytokine reinforcing the inflammatory states. -is_a: HP:0030782 ! Abnormal circulating interleukin concentration +is_a: HP:0011117 ! Abnormal circulating interleukin concentration property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8433 @@ -190216,7 +190356,7 @@ property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-onto id: HP:6000442 name: Abnormal circulating interleukin 12 concentration def: "Any deviation from the normal range of the concentration of interleukin 12 in the blood circulation." [] -is_a: HP:0030782 ! Abnormal circulating interleukin concentration +is_a: HP:0011117 ! Abnormal circulating interleukin concentration property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8434 @@ -190251,7 +190391,7 @@ property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-onto id: HP:6000446 name: Abnormal circulating CC chemokine concentration def: "The concentration in the blood circulation of a member of the CC chemokine family is outside of normal limits." [] -is_a: HP:0011112 ! Abnormality of serum cytokine level +is_a: HP:0011115 ! Abnormal circulating chemokine concentration property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8440 @@ -190272,6 +190412,2111 @@ is_a: HP:0030057 ! Autoimmune antibody positivity property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8792 +[Term] +id: HP:6000449 +name: Occupational exposure to raw nonsynthetic textiles +def: "A history of exposure by inhalation of airborne particles generated during the processing of raw, nonsynthetic textiles, particularly cotton. Classically, exposure to cotton dust during the spinning and manufacturing process causes byssinosis. However, exposure to jute, flax, and hemp fibers has also been implicated in its development." [PMID:30137833] +is_a: HP:0035010 ! Occupational exposure history +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10038 + +[Term] +id: HP:6000450 +name: Rokitansky-Aschoff gallbladder sinuses +def: "Localized or diffuse epithelial proliferation with hypertrophy of the muscularis layer and invagination of the mucosa through the muscularis, forming intramural diverticula (i.e., small, bulging pouches in the wall of the gallbladder)." [PMID:31984708] +synonym: "Adenomyomatosis of the gallbladder" EXACT [] +synonym: "Epithelial invaginations of the gallbladder forming cystic pockets" EXACT [] +is_a: HP:0012437 ! Abnormal gallbladder morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10044 + +[Term] +id: HP:6000451 +name: Porcelain gallbladder +def: "Porcelain gallbladder refers to the condition in which the inner gallbladder wall is encrusted with calcium. The wall becomes brittle, hard, and often takes on a bluish hue. It is usually found incidentally on plain abdominal x-rays or other imaging because most patients are asymptomatic." [PMID:30085521] +comment: Most cases of porcelain gallbladder are asymptomatic. However, some patients do exhibit signs of chronic cholecystitis. Patients with chronic cholecystitis usually present with dull right upper abdominal pain that radiates to the mid back or right scapular tip. It is usually associated with fatty food ingestion. The classic physical examination will demonstrate right upper abdominal pain with deep palpation (Murphy's sign). If the patient is very thin or if the gallbladder is enlarged, a firm, hard gallbladder can be palpated in the right upper quadrant of the abdomen. +synonym: "Calcified gallbladder" EXACT [] +synonym: "Calcifying cholecystitis" EXACT [] +synonym: "Cholecystopathia chronica calcarea" EXACT [] +is_a: HP:0012437 ! Abnormal gallbladder morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10046 + +[Term] +id: HP:6000452 +name: Gallbladder adhesions +def: "Strands of scar tissue bands of scar tissue that form an abnormal connection between the gallbladder and another abdominal structure. Adhesions can form followiing gallbladder inflamation (cholecystitis)." [PMID:34386223] +is_a: HP:0012437 ! Abnormal gallbladder morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10052 + +[Term] +id: HP:6000453 +name: Bilioduodenal fistula +def: "An abnormal connection between the gallbladder and the duodenum." [PMID:28613489] +comment: Following an attack of acute cholecystitis, the resulting inflammation and adhesion of the gallbladder to GI, together with mechanical pressure applied by gallstones on the gallbladder itself and bowel wall, may result in an ischemic tear of the apposed gallbladder and enteric wall; this mechanism potentiates a fistula between the gallbladder and bowel where the gallstone could pass. Bouveret syndrome is the most infrequent variant of gallstone ileus. It results from a gallstone migrating through a bilioenteric fistula and causing obstruction at the gastric outlet and occasionally in also other portions of the intestine. +synonym: "Bouveret syndrome" EXACT [] +is_a: HP:0012437 ! Abnormal gallbladder morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10053 + +[Term] +id: HP:6000454 +name: Pneumobilia +def: "Accumulation of gas in the biliary tree." [PMID:16567248] +comment: Pneumobilia, or air within the biliary tree of the liver, suggests an abnormal communication between the biliary tract and the intestines, or infection by gas-forming bacteria. Pneumobilia usually can be distinguished from air in the portal venous system by its appearance on computed tomography (CT) scan. +synonym: "Aerobilia" EXACT [] +synonym: "Air in the biliary system" EXACT [] +is_a: HP:0012440 ! Abnormal biliary tract morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10054 + +[Term] +id: HP:6000455 +name: Ectopic gallstone +def: "A gallstone located outside of the gallbladder." [PMID:27471576] +comment: This feature may be seen following laparoscopic cholecystectomy complicated by gallstone and biliary spillage into the peritoneal cavity or with Bouveret syndrome (bilioduodenal fistula). +synonym: "Gallstone outside of the gallbladder" EXACT [] +is_a: HP:0001081 ! Cholelithiasis +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10055 + +[Term] +id: HP:6000456 +name: Sleep drunkeness +def: "Sleep drunkenness refers to the prolonged and pronounced difficulty with awakening from nocturnal sleep and daytime naps. This symptom should be distinguished from the milder and physiologic state of sleep inertia seen even in healthy controls ." [PMID:28778232, PMID:36401976] +is_a: HP:0002360 ! Sleep abnormality +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0009-0005-6714-5727 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10063 + +[Term] +id: HP:6000457 +name: Mallory bodies +def: "Cytoplasmic hyaline inclusions of hepatocytes that are predominantly filamentous ranging from a diameter of 3 to 24 nm vs. 10 nm of classical IF. Mallory-Denk bodies can be classified as type I (parallels filaments), II (randomly orient filaments), or III (granular and amorphous). Type II occurs in the periphery while type III occurs around the center. MDB occur in ballooned hepatocytes." [PMID:31424884] +comment: Mallory bodies were once thought to be specific for alcoholic hepatitis but now are known to occur in other liver diseases which include nonalcoholic steatohepatitis, cholestatic liver diseases, primary biliary cirrhosis and hepatocellular carcinoma. +synonym: "Mallory-Denk bodies" EXACT [] +is_a: HP:0034713 ! Abnormal hepatocyte morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10067 + +[Term] +id: HP:6000458 +name: Sulfur-containing abscess +def: "An abscess containing tiny yellow clumps (sulfur granules), formed by infection with Actinomyces and generally associated with a granulomatous and suppurative infection." [PMID:29489261] +is_a: HP:0025615 ! Abscess +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/9947 + +[Term] +id: HP:6000459 +name: Retracted tympanic membrane +def: "A condition in which part of the tympanic membrane is pull backed into the middle ear cavity (also called retraction pocket)." [PMID:32890292] +is_a: HP:0040090 ! Abnormal tympanic membrane morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0009-0007-1020-5412 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10351 + +[Term] +id: HP:6000460 +name: Ectopic testis +def: "Localization of the testis in an anatomic location other than the scrotum." [PMID:31211064] +comment: Ectopic testis usually derives from overdevelopment and lengthening of a segment of the gubernaculum or from obstruction of the entrance to the scrotum. differing from undescended testis (cryptorchidism) in that ectopic testis is a congenitally abnormally located testis, that has descended from the abdominal cavity away from the normal path of descent while undescended testis are congenitally abnormally located testis within the normal path of descent. +is_a: HP:0000035 ! Abnormal testis morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0009-0007-1020-5412 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10352 + +[Term] +id: HP:6000461 +name: Cerebral subcortical cyst +def: "A fluid-filled sac (cyst) in the region below the cortex of the cerebrum. In magnetic resonance imaging, the fluid within the cyst has the same appearance as cerebrospinal fluid (CSF)." [PMID:21977097] +comment: Megalencephalic leukoencephalopathy with subcortical cysts is characterized by subcortical cysts that are present in the anterior temporal region most commonly and often in the frontoparietal region. Later, MRI may only reveal cerebral atrophy. The size and number of the cysts may increase over time. See Figure 1 of PMID:21977097. +is_a: HP:0010993 ! Abnormal cerebral subcortex morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10358 + +[Term] +id: HP:6000462 +name: Anti-ADAMTS13 antibody positivity +def: "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against A Disintegrin and Metalloprotease with ThromboSpondin type 1 repeats, member 13 (ADAMTS13)." [PMID:28416507, PMID:31107120, PMID:33540569] +comment: Immune-mediated TTP, sometimes referred to as acquired TTP, is caused by ADAMTS13 deficiency mediated by autoantibodies. +is_a: HP:0030057 ! Autoimmune antibody positivity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0009-0005-6714-5727 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10362 + +[Term] +id: HP:6000463 +name: Habitual mouth breathing +def: "A tendency to breathe through the mouth. Defined as over 25-30 percent of the air passing through the mouth instead of the nose, mouth breathing often occurs due to upper airway obstruction which reduces the nasal airflow and forces the air to enter completely or partially through oral cavity." [PMID:29799704, PMID:36159237] +is_a: HP:0002793 ! Abnormal pattern of respiration +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-6670-9157 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10363 + +[Term] +id: HP:6000464 +name: Squared off shoulders +def: "An appearance of the shoulders whereby the neck-trapezius angle (angle between the neck and the shoulder) and the angle formed by the shoulder and the arms hanging at the side of the body are both close to 90 degrees. This gives the should the appearance of the corner of a square." [PMID:33258289] +comment: See Figure 1 of PMID:33258289. +is_a: HP:0003043 ! Abnormal shoulder morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10369 + +[Term] +id: HP:6000465 +name: Elevated urine mesaconic acid level +def: "The amount of mesaconic acid in the urine, normalized for urine concentration, is above the upper limit of normal." [PMID:29909962] +is_a: HP:0003215 ! Dicarboxylic aciduria +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8639 + +[Term] +id: HP:6000466 +name: Elevated urine 3-methyladipic acid level +def: "The amount of 3-methyladipic acid in the urine, normalized for urine concentration, is above the upper limit of normal." [PMID:29909962] +is_a: HP:0003215 ! Dicarboxylic aciduria +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8640 + +[Term] +id: HP:6000467 +name: Elevated urine D-lactate level +def: "The amount of D-lactate in the urine, normalized for urine concentration, is above the upper limit of normal. L-lactate is a familiar molecule to the human body and is also produced in large amounts in human tissues, depending on metabolic conditions. In contrast, D-lactate is produced only in minute quantities in human tissues, and is therefore not detectable in the bloodstream under normal physiological conditions." [PMID:30931947] +comment: Elevated urine D-lactate may be observed with D-lactic aciduria with susceptibility to gout. +synonym: "https://github.com/obophenotype/human-phenotype-ontology/issues/8641" EXACT [] +is_a: HP:0012072 ! Aciduria +property_value: IAO:0000233 https://orcid.org/0000-0002-0736-9199 + +[Term] +id: HP:6000468 +name: Elevated CSF alpha-ketoglutarate concentration +def: "The concentration of alpha-ketoglutarate in the cerebrospinal fluid (CSF) is above the upper limit of normal." [PMID:30635937] +is_a: HP:0500183 ! Abnormal CSF carboxylic acid concentration +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8642 + +[Term] +id: HP:6000469 +name: Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level +def: "The amount of 2,3-dihydroxy-2-methylbutanoic acidin the urine, normalized for urine concentration, is above the upper limit of normal." [PMID:29575569] +synonym: "2-methyl-2,3-dihydroxybutyrate high in urine" EXACT [] +synonym: "Elevated urine 2-methyl-2,3-dihydroxybutyrate level" EXACT [] +is_a: HP:0034653 ! Monocarboxylic aciduria +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8643 + +[Term] +id: HP:6000470 +name: Fetal oral mass +def: "A swelling or enlargment localized to the oral cavity of a fetus. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. This finding is generally first observed by prenatal sonography or magnetic resonance imaging." [PMID:33904194] +comment: Fetal oral masses are usually observed in the second and third trimesters. +is_a: HP:0034207 ! Abnormal fetal gastrointestinal system morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8698 + +[Term] +id: HP:6000471 +name: Dilated ejaculatory duct +def: "Increase in diameter of the ejeculatory duct. The ejaculatory duct delivers sperm into the urethra, adding secretions from the prostate and is formed by the union of the vas deferens with the duct of the seminal vesicle." [] +synonym: "Ejaculatory duct dilated" EXACT [] +is_a: HP:0000022 ! Abnormal male internal genitalia morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8702 + +[Term] +id: HP:6000472 +name: Decreased Wiskott-Aldrich syndrome protein concentration in hematopoietic cells +def: "The concentration of Wiskott-Aldrich syndrome protein in hematopoietic cells is below the lower limit of normal. This feature is measured by flow cytometry or Western blotting." [] +is_a: HP:0032243 ! Abnormal tissue metabolite concentration +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8718 + +[Term] +id: HP:6000473 +name: Decreased FOXP3-expressing T cell count +def: "The number of T cells in peripheral blood that express FOXP3-expressing is below the lower limit of normal. This finding is determined by flow cytometry." [PMID:20301297] +is_a: HP:0002843 ! Abnormal T cell morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8721 + +[Term] +id: HP:6000474 +name: Elevated circulating complement component concentration +def: "Concentration of a complement component in the blood circulation is above the upper limit of normal." [] +is_a: HP:0005339 ! Abnormality of complement system +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8722 + +[Term] +id: HP:6000475 +name: Anti-beta fodrin antibody positivity +def: "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a component of beta-fodrin." [PMID:11673564] +comment: Fodrin, a heterodimer composed of alpha and beta subunits, is an abundant protein of eukaryotic cell membrane skeleton. The alpha/beta-fodrin dimers self-associate head-to-head into tetramers and serve as the basic structural element of the membrane skeleton. Individuals with Sjogren syndrome may display antibodies to fodrin. +is_a: HP:0030057 ! Autoimmune antibody positivity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8731 + +[Term] +id: HP:6000476 +name: Elevated circulating tetradecenoylcarnitine concentration +def: "The concentration of tetradecenoylcarnitine (C14:1) in the blood circulation is above the upper limit of normal." [] +is_a: HP:0033465 ! Elevated circulating tetradecanoylcarnitine concentration +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8562 + +[Term] +id: HP:6000477 +name: Elevated urine 2-trans,4-cis-decadienoylcarnitine level +def: "The amount of 2-trans,4-cis-decadienoylcarnitine in the urine, normalized for urine concentration, is above the upper limit of normal." [] +is_a: HP:0500170 ! Abnormal concentration of acylcarnitine in the urine +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8567 + +[Term] +id: HP:6000478 +name: Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration +def: "The concentration of 2-trans,4-cis-decadienoylcarnitine in the blood circulation is above the upper limit of normal." [PMID:15344554, PMID:19578400, PMID:2332510] +comment: 2-trans,4-cis-decadienoylcarnitine is elevated in the blood or plasma of individuals with 2,4-dienoyl-coenzyme a reductase deficiency. +is_a: HP:0035017 ! Elevated circulating medium-chain acylcarnitine concentration +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8568 + +[Term] +id: HP:6000479 +name: Elevated urine N-acetyltyrosine level +def: "The amount of N-acetyltyrosine in the urine, normalized for urine concentration, is above the upper limit of normal." [PMID:20301688] +is_a: HP:0033090 ! Increased aromatic amino acid level in urine +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8576 + +[Term] +id: HP:6000480 +name: Elevated urine manganese level +def: "The amount of manganese in the urine, normalized for urine concentration, is above the upper limit of normal." [PMID:1577529] +comment: Manganese is a trace mineral required for metabolism, growth and tissue formation, and reproduction. It is mainly obtained through food and water, as well as through occupational exposure. +is_a: HP:0025640 ! Abnormal urinary mineral level +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8872 + +[Term] +id: HP:6000481 +name: Reduced urinary manganese level +def: "The amount of manganese in the urine, normalized for urine concentration, is below the lower limit of normal." [PMID:1577529] +comment: Manganese is a trace mineral required for metabolism, growth and tissue formation, and reproduction. It is mainly obtained through food and water, as well as through occupational exposure. +is_a: HP:0025640 ! Abnormal urinary mineral level +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8873 + +[Term] +id: HP:6000482 +name: Decreased circulating catecholamine concentration +def: "Concentration of a catecholamine in the blood circulation below the lower limit of normal." [] +comment: The group of the catecholamines includes epinephrine (adrenaline), norepinephrine (noradrenaline), and dopamine. +is_a: HP:0012099 ! Abnormality of circulating catecholamine level +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8877 + +[Term] +id: HP:6000483 +name: Empty sella turcica +def: "Empty sella or arachnoidocele has been defined as the herniation of the subarachnoid space within the sella turcica, associated with elongated pituitary stalk and flattening of the pituitary gland." [PMID:22875743] +synonym: "Arachnoidocele" EXACT [] +is_a: HP:0002679 ! Abnormal sella turcica morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8886 + +[Term] +id: HP:6000484 +name: Elevated brain guanidinoacetate level by MRS +def: "An increase in the level of guanidinoacetate in the brain identified by magnetic resonance spectroscopy (MRS)." [PMID:9386672] +is_a: HP:0012705 ! Abnormal metabolic brain imaging by MRS +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8888 + +[Term] +id: HP:6000485 +name: Elevated circulating beta chorionic gonadotropin concentration +def: "The concentration of beta chorionic gonadotropin in the blood circulation is above the upper limit of normal." [PMID:11919246] +is_a: HP:0010876 ! Abnormal circulating protein concentration +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8417 + +[Term] +id: HP:6000486 +name: Elevated circulating CXCL10 concentration +def: "The concentration of C-X-C motif chemokine 10 (CXCL10) in the blood circulation is above the upper limit of normal." [PMID:22038159] +is_a: HP:0011115 ! Abnormal circulating chemokine concentration +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8432 + +[Term] +id: HP:6000487 +name: Reduced circulating interleukin 12 concentration +def: "The concentration of interleukin 12 (IL-12) in the blood circulation is below the lower limit of normal." [] +is_a: HP:6000442 ! Abnormal circulating interleukin 12 concentration +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8434 + +[Term] +id: HP:6000488 +name: Reduced circulating fibroblast growth factor 23 concentration +def: "The concentration of fibroblast growth factor 23 in the blood circulation is below the lower limit of normal." [] +synonym: "Fibroblast growth factor 23 hormone low in blood" EXACT [] +is_a: HP:6000489 ! Abnormal circulating fibroblast growth factor 23 concentration +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8435 + +[Term] +id: HP:6000489 +name: Abnormal circulating fibroblast growth factor 23 concentration +def: "The concentration of fibroblast growth factor 23 in the blood circulation is outside of the limits of normal." [] +is_a: HP:0003117 ! Abnormal circulating hormone concentration +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8435 + +[Term] +id: HP:6000490 +name: Impaired heel-walking ability +def: "Difficulty or reduced ability to walk on heels. Heel-walking can be tested as a part of the neurological examination. Foot dorsal extention weakness leads to difficulties in walking on heels." [PMID:29291292] +is_a: HP:0001288 ! Gait disturbance +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0009-0004-9942-3886 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10311 + +[Term] +id: HP:6000491 +name: Anti-prothrombin antibody positivity +def: "The presence of autoantibodies (immunoglobulins) in the serum that react against prothrombin." [PMID:3116540] +synonym: "Anti-FII antibody positivity" EXACT [] +is_a: HP:6000351 ! Anti-coagulation factor antibody positivity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-3387-1836 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10286 + +[Term] +id: HP:6000492 +name: Anti-factor V antibody positivity +def: "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against factor V." [PMID:33505468] +synonym: "Anti-FV antibody positivity" EXACT [] +is_a: HP:6000351 ! Anti-coagulation factor antibody positivity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-3387-1836 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10286 + +[Term] +id: HP:6000493 +name: Anti-factor VII antibody positivity +def: "The presence of autoantibodies (immunoglobulins) in the serum that react against factor VII." [PMID:26962982] +synonym: "Anti-FVII antibody positivity" EXACT [] +is_a: HP:6000351 ! Anti-coagulation factor antibody positivity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-3387-1836 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10286 + +[Term] +id: HP:6000494 +name: Anti-factor VIII antibody positivity +def: "The presence of autoantibodies (immunoglobulins) in the serum that react against factor VIII." [PMID:3116540] +synonym: "Anti-FVIII antibody positivity" EXACT [] +is_a: HP:6000351 ! Anti-coagulation factor antibody positivity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-3387-1836 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10286 + +[Term] +id: HP:6000495 +name: Anti-factor IX antibody positivity +def: "The presence of autoantibodies (immunoglobulins) in the serum that react against factor IX." [PMID:27501440, PMID:28594432] +synonym: "Anti-FIX antibody positivity" EXACT [] +is_a: HP:6000351 ! Anti-coagulation factor antibody positivity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-3387-1836 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10286 + +[Term] +id: HP:6000496 +name: Anti-factor X antibody positivity +def: "The presence of an antibody in the blood circulation that is directed against factor X." [PMID:24074948] +synonym: "Anti-FX antibody positivity" EXACT [] +is_a: HP:6000351 ! Anti-coagulation factor antibody positivity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-3387-1836 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10286 + +[Term] +id: HP:6000497 +name: Anti-factor XI antibody positivity +def: "The presence of an antibody in the blood circulation that is directed against factor XI." [PMID:18519152] +synonym: "Anti-FXI antibody positivity" EXACT [] +is_a: HP:6000351 ! Anti-coagulation factor antibody positivity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-3387-1836 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10286 + +[Term] +id: HP:6000498 +name: Anti-factor XIII antibody positivity +def: "The presence of an antibody in the blood circulation that is directed against factor XIII." [PMID:29460500, PMID:32759568] +synonym: "Anti-FXIII antibody positivity" EXACT [] +is_a: HP:6000351 ! Anti-coagulation factor antibody positivity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-3387-1836 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10286 + +[Term] +id: HP:6000499 +name: Anti-factor H antibody positivity +def: "The presence of an antibody in the blood circulation that is directed against factor H." [PMID:21051740, PMID:30989342] +synonym: "Anti-FH antibody positivity" EXACT [] +is_a: HP:6000351 ! Anti-coagulation factor antibody positivity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-3387-1836 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10286 + +[Term] +id: HP:6000500 +name: Extremities cold to touch +def: "Cool or cold arms or legs related to peripheral vasoconstriction, the narrowing of blood vessels resulting from the contraction of muscular walls in large arteries and the small arterioles of skin and most internal organs. Following exposure to low ambient temperatures, vasoconstriction decreases heat dissipation from skin surfaces, thus preventing life-threatening hypothermia." [PMID:34645109] +synonym: "Peripheral vasoconstriction" EXACT [] +is_a: HP:0025142 ! Constitutional symptom +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10280 + +[Term] +id: HP:6000501 +name: Ruffled acrosome +def: "An irregular wavy appearance of sperm acrosomes." [PMID:12095502] +comment: The human acrosome and the acrosome reaction are important for human fertilization. Acrosome-intact sperm bind to the surface of the zona pellucida, where the physiological acrosome reaction is thought to be induced by zona pellucida glycoproteins. The proportion of sperm that react with acrosomes on the surface of the zona pellucida (the zona pellucida-induced acrosome reaction) is strongly correlated with the proportion of oocytes penetrated by sperm during in vitro fertilization. +is_a: HP:0012865 ! Abnormal sperm head morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10312 + +[Term] +id: HP:6000502 +name: Elevated circulating calprotectin concentration +def: "The concentration of calprotectin in the blood circulation is above the upper limit of normal." [PMID:27895095] +comment: Calprotectinis an acute-phase protein produced by monocytes and neutrophils in the circulation and inflamed tissues. +is_a: HP:0010876 ! Abnormal circulating protein concentration +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0009-0005-6714-5727 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10319 + +[Term] +id: HP:6000503 +name: 4-5 toe cutaneous syndactyly +def: "A soft tissue continuity in the anteroposterior axis between the toes 4 and 5." [PMID:37352860] +is_a: HP:0004692 ! 4-5 toe syndactyly +is_a: HP:0010621 ! Cutaneous syndactyly of toes +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8612-1062 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10325 + +[Term] +id: HP:6000504 +name: Poly-hill sign +def: "A typical physical examination in patients with muscular dystrophies and selective weakness and atrophy of the trapezius muscle and proximal deltoid muscle. The contour of the back shows unique hills and drops." [PMID:11994973] +is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0009-0004-9942-3886 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10327 + +[Term] +id: HP:6000505 +name: 3-5 finger cutaneous syndactyly +def: "A soft tissue continuity in the anteroposterior axis between the third to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints." [PMID:37352860] +synonym: "Soft tissue syndactyly of fingers 3-5," EXACT [] +synonym: "Webbed 3th, 4th, and 5th finger" EXACT [] +synonym: "Webbed third, fourth, and fifth finger" EXACT [] +is_a: HP:0010554 ! Cutaneous finger syndactyly +is_a: HP:0010710 ! 3-5 finger syndactyly +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0009-0007-1020-5412 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10329 + +[Term] +id: HP:6000506 +name: Radioulnar subluxation +def: "Partial dislocation of the radioulnar joint." [PMID:7747190] +is_a: HP:0003059 ! Abnormality of the radioulnar joints +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8612-1062 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10333 + +[Term] +id: HP:6000507 +name: Non-pitting edema +def: "Non-pitting edema occurs when excess fluid builds up in the body causing swelling that does not indent when pressure is applied. It usually occurs in the limbs, and often results from underlying medical conditions affecting lymphatic system function." [PMID:32119339] +is_a: HP:0000969 ! Edema +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0009-0007-1020-5412 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10335 + +[Term] +id: HP:6000508 +name: Anti-human ferritin peptide antibody positivity +def: "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the human ferritin peptide." [PMID:22228484, PMID:36344353] +comment: It has also been shown that antibodies against the human ferritin peptide are present in more than 90% of patients with active giant cell arteritis, making it a potentially useful diagnostic marker. +is_a: HP:0030057 ! Autoimmune antibody positivity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10344 + +[Term] +id: HP:6000509 +name: Elevated CSF L-2-hydroxyglutaric acid concentration +def: "The concentration of L-2-hydroxyglutaric acid in the cerebrospinal fluid (CSF) is above the upper limit of normal." [] +is_a: HP:0500183 ! Abnormal CSF carboxylic acid concentration +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8343 + +[Term] +id: HP:6000510 +name: Elevated erythrocyte inosine triphosphate concentration +def: "Concentration of inosine triphosphate in red blood cells is above the upper limit of normal." [PMID:12384777] +comment: Inosine triphosphate pyrophosphohydrolase (ITPase) deficiency is a common inherited condition characterized by the abnormal accumulation of inosine triphosphate (ITP) in erythrocytes. +is_a: HP:0034737 ! Abnormal erythrocyte metabolite concentration +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8345 + +[Term] +id: HP:6000511 +name: Reduced erythrocyte inosine triphosphatase activity +def: "Activity or concentration of inosine triphosphate pyrophosphohydrolase (EC 3.6.1.19) in red blood cells below the lower limit of normal." [] +is_a: HP:0030272 ! Abnormal erythrocyte enzyme concentration or activity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8346 + +[Term] +id: HP:6000512 +name: Reduced circulating alpha-1,3-fucosyltransferase activity +def: "Concentration or activity of alpha-1,3-fucosyltransferase is below the lower limit of normal in the blood circulation." [PMID:9448836] +comment: The alpha 3 fucosyltransferases are a family of glycosyltransferases involved in the addition of fucose onto glycoproteins and glycolipids. One of the best defined roles for the alpha 3 fucosyltransferases is in the biosynthesis of the carbohydrate antigen sialyl Lewis X, the minimal ligand for the selectin family of adhesion molecules. +is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8351 + +[Term] +id: HP:6000513 +name: Diminished neutrophil myeloperoxidase activity +def: "Activity of the enzyme myeloperoxidase (EC 1.11.1.7) in neutrophils below the lower limit of normal. This feature can be measured by peroxidase cytochemistry or biochemical assays. Myeloperoxidase is a lysosomal hemoprotein located in the azurophilic granules of polymorphonuclear leukocytes and monocytes." [PMID:9354683] +is_a: HP:0011992 ! Abnormal neutrophil morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8353 + +[Term] +id: HP:6000514 +name: Reduced erythrocyte uroporphyrinogen III cosynthase activity +def: "Activity or concentration of in the level of uroporphyrinogen III (EC 4.2.1.75) in erythrocytes below the lower limit of normal." [PMID:3674403] +is_a: HP:0030272 ! Abnormal erythrocyte enzyme concentration or activity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8354 + +[Term] +id: HP:6000515 +name: Elevated 18-hydroxycorticosterone to aldosterone ratio +def: "The relative concentration in the blood circulation of 18-hydroxycorticosterone compared to that of aldosterone is above the upper limit of normal." [PMID:2981240] +is_a: HP:0012112 ! Abnormal circulating corticosterone level +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8357 + +[Term] +id: HP:6000516 +name: Elevated circulating 21-deoxycortisol concentration +def: "The concentration of 21-deoxycortisol in the blood circulation is above the upper limit of normal." [PMID:34780778] +comment: 21-Deoxycortisol is a marker for 21-hydroxylase deficiency. +is_a: HP:0003118 ! Increased circulating cortisol level +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8367 + +[Term] +id: HP:6000517 +name: Elevated monolysocardiolipin/cardiolipin ratio +def: "The concentration of monolysocardiolipin related to that of cardiolipin is above the upper limit of normal. This is a functional assay that can be performed from a blood spot to diagnose Barth syndrome (OMIM:302060)." [PMID:34382226] +is_a: HP:0040176 ! Abnormal circulating phospholipid concentration +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8368 + +[Term] +id: HP:6000518 +name: Low maternal vitamin B12 concentration +def: "The concentration of vitamin B12 in the mother's blood during pregnancy is below the lower limit of normal." [] +is_a: HP:0011436 ! Abnormal maternal serum screening +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8372 + +[Term] +id: HP:6000519 +name: Elevated circulating inhibin A concentration +def: "The concentration of inibin A in the blood circulation is above the upper limit of normal." [PMID:8940372] +comment: Inhibin A and inhibin B are related dimeric protein hormones and endocrine regulators of the reproductive axis. Specifically, inhibin inhibits FSH secretion from the anterior pituitary. The inhibins are synthesized by the gonads and are themselves modulated by FSH. +is_a: HP:0031099 ! Abnormal circulating inhibin level +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8375 + +[Term] +id: HP:6000520 +name: Increased circulating inhibin B concentration +def: "The concentration of inhibin B in the blood circulation is above the upper limit of normal." [PMID:8940372] +comment: Inhibin A and inhibin B are related dimeric protein hormones and endocrine regulators of the reproductive axis. Specifically, inhibin inhibits FSH secretion from the anterior pituitary. The inhibins are synthesized by the gonads and are themselves modulated by FSH. +synonym: "Inhibin B high in blood" EXACT [] +is_a: HP:0430147 ! Abnormal circulating inhibin B concentration +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8376 + +[Term] +id: HP:6000521 +name: Elevated circulating lipoprotein(a) concentration +def: "The concentration of lipoprotein(a) in the blood circulation is above the upper limit of normal. Lipoprotein(a), also known as apolipoprotein(A), is encoded by LPA (HGNC:6667)." [PMID:34196811] +comment: ipoprotein(a) [Lp(a)] is an atherogenic lipoprotein with a strong genetic regulation. Up to 90% of the concentrations are explained by a single gene, the LPA gene. The concentrations show a several-hundred-fold interindividual variability ranging from less than 0.1 mg/dL to more than 300 mg/dL. Lp(a) plasma concentrations above 30 mg/dL and even more above 50 mg/dL are associated with an increased risk for cardiovascular disease including myocardial infarction, stroke, aortic valve stenosis, heart failure, peripheral arterial disease, and all-cause mortality. +is_a: HP:0430148 ! Abnormal circulating lipoprotein(a) concentration +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8377 + +[Term] +id: HP:6000522 +name: Reduced circulating lipoprotein(a) concentration +def: "The concentration of lipoprotein(a) in the blood circulation is below the lower limit of normal. Lipoprotein(a), also known as apolipoprotein(A), is encoded by LPA (HGNC:6667)." [] +is_a: HP:0430148 ! Abnormal circulating lipoprotein(a) concentration +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8377 + +[Term] +id: HP:6000523 +name: Increased urinary bile acid level +def: "The amount of bile acids in the urine, normalized for urine concentration, is above the upper limit of normal." [] +is_a: HP:0031980 ! Abnormal urine carboxylic acid level +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8379 + +[Term] +id: HP:6000524 +name: Abnormal urinary bile acid level +def: "The amount of bile acids in the urine, normalized for urine concentration, is outside the limits of normal." [] +is_a: HP:0031980 ! Abnormal urine carboxylic acid level +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8379 + +[Term] +id: HP:6000525 +name: Reduced erythrocyte glutathione reductase activity +def: "Activity of glutathione reductase (EC 1.6.4.2) in erythrocytes below the lower limit of normal." [PMID:17185460] +is_a: HP:0030272 ! Abnormal erythrocyte enzyme concentration or activity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8237 + +[Term] +id: HP:6000526 +name: Failure to elevate lactate upon ischemic exercise test +def: "Failure to elevate lactate in blood washed out from ischemically exercised muscles as assayed by the forearm ischemic exercise test." [PMID:3476851] +comment: The forearm ischemic exercise test (FIET) has been accepted as an essential clinical laboratory test in the evaluation of patients suspected to have McArdle's disease and other disorders of muscle metabolism. Painful contracture during ischemic exercise and failure to elevate blood lactate duringthe FIET are regarded as the basic screening tests for disorders of anaerobic metabolism in muscle. +is_a: HP:0011014 ! Abnormal glucose homeostasis +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8239 + +[Term] +id: HP:6000527 +name: Elevated circulating cholestanol concentration +def: "The concentration of cholestanol in the blood circulation is above the upper limit of normal. Cholestanol is the 5-alpha-dihydro derivative of cholesterol." [] +is_a: HP:0003107 ! Abnormal circulating cholesterol concentration +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8242 + +[Term] +id: HP:6000528 +name: Livestock exposure +def: "A medical history of having been exposed to livestock (animals such as cattle and sheep which are kept on a farm )." [] +is_a: HP:4000110 ! Exposure history +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/9942 + +[Term] +id: HP:6000529 +name: Synchronous skin lesions +def: "Applies to an abnormality of the skin in which multiple lesions occur at the same time." [] +is_a: HP:0012836 ! Spatial pattern +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/9944 + +[Term] +id: HP:6000530 +name: Serpentine skin location +def: "Refers to a skin lseion that has a snake-like (serpentine) shape." [PMID:30020678] +comment: Lesions of granuloma inguinale are said to have a serpentine appearance. +is_a: HP:0012830 ! Position +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/9949 + +[Term] +id: HP:6000531 +name: Abnormal urinary organic compound level +def: "The amount of an organic compound in the urine, normalized for urine concentration, is outside the limits of normal. An organic compound is defined here as a chemical compound that contains a carbon-hydrogen or carbon-carbon bond, although some other definitions exist. Examples of organic compounds includea alkanes, alkenes, alkynes, aromatic compounds, alcohols, ketones, aldehydes, carboxylic acids, and esters." [] +is_a: HP:0033354 ! Abnormal urine metabolite level +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8848 + +[Term] +id: HP:6000532 +name: Elevated urinary histamine level +def: "The amount of histamine in the urine, normalized for urine concentration, is above the upper limit of normal." [PMID:890980] +comment: Urinary histamine excretion may be abnormally high in a variety of clinical settings including systemic mastocytosis. +is_a: HP:6000531 ! Abnormal urinary organic compound level +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8848 + +[Term] +id: HP:6000533 +name: Elevated urinary N-methylhistamine level +def: "The amount of N-methylhistamine in the urine, normalized for urine concentration, is above the upper limit of normal." [PMID:12372095] +is_a: HP:6000531 ! Abnormal urinary organic compound level +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8849 + +[Term] +id: HP:6000534 +name: Elevated urinary ureidopropionic acid level +def: "The amount of ureidopropionic acid in the urine, normalized for urine concentration, is above the upper limit of normal." [PMID:11675655] +synonym: "Ureidopropionic acid high in urine" EXACT [] +is_a: HP:0033303 ! Elevated urinary monocarboxylic acid level +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8851 + +[Term] +id: HP:6000535 +name: Elevated urinary porphyrin level +def: "The amount of a porphyrin compound in the urine, normalized for urine concentration, is above the upper limit of normal. Porphrins are natural pigments containing a fundamental skeleton of four pyrrole nuclei united through the alpha-positions by four methine groups to form a macrocyclic structure. Porpyrins giove rise to heme and combalamine." [] +comment: Porphyrias are a group of diseases that are clinically and genetically heterogeneous and originate mostly from inherited dysfunctions of specific enzymes involved in heme biosynthesis. Such dysfunctions result in the excessive production and excretion of the intermediates of the heme biosynthesis pathway in the blood, urine, or feces, and these intermediates are responsible for specific clinical presentations. An accumulation of the following two different kinds of metabolites may occur: one is the porphyrin precursors, such as 5-aminolevulinic acid (ALA) and porphobilinogen (PBG), which are linear non-fluorescent molecules, and the other kind is the porphyrins, such as uroporphyrins (URO), coproporphyrins (COPRO), and protoporphyrins (PROTO), which are circular molecules that emit fluorescence signals when excited. Porphyrins are the oxidized products of porphyrinogens, which are the actual substrates of the enzymes involved in heme biosynthesis. Porphyrins exist in different isomers depending on the arrangement of the substituents acetate (A), propionate (P), methyl (M), and vinyl (V) of the four pyrroles of the porphyrin ring. +is_a: HP:6000531 ! Abnormal urinary organic compound level +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8856 + +[Term] +id: HP:6000536 +name: Elevated urinary coproporphyrin level +def: "The amount of a coproporphyrin in the urine, normalized for urine concentration, is above the upper limit of normal." [] +is_a: HP:6000535 ! Elevated urinary porphyrin level +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8856 + +[Term] +id: HP:6000537 +name: Ecrrine sweat gland predominance +def: "Applies to an abnormality of the skin that is located in or surrounding eccrine sweat glands." [PMID:29489179] +comment: Eccrine sweat glands are simple, coiled, tubular glands present throughout the body, most numerously on the soles of the feet. Eccrine sweat glands serve a thermoregulatory function via evaporative heat loss. When the internal temperature of the body rises, sweat glands release water to the skin surface. There, it quickly evaporates, subsequently cooling the skin and blood beneath.; this is the most effective means of thermoregulation in humans. Eccrine sweat glands also participate in ion and nitrogenous waste excretion. +is_a: HP:0012836 ! Spatial pattern +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8039 + +[Term] +id: HP:6000538 +name: Poorly demarcated skin lesion +def: "Applies to an abnormality of the skin whose boundry to the surrounding normal skin is not clearly defined." [] +is_a: HP:0012836 ! Spatial pattern +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8041 + +[Term] +id: HP:6000539 +name: History of recent cat bite +def: "Medical history of a recent bite or scratch injury due to a cat." [] +synonym: "History of recent cat scratch" EXACT [] +is_a: HP:0020138 ! History of recent animal bite +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8044 + +[Term] +id: HP:6000540 +name: History of recent stay in area with inadequate sewage sanitation +def: "A history of having been in an area with inadequate sewage sanitation in the recent past." [] +is_a: HP:4000144 ! Recent past medical history +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8046 + +[Term] +id: HP:6000541 +name: Positive cutaneous herpes simplex virus nucleic acid test +def: "Detection of cutaneous herpes simplex virus nucleic acid in the skin by a method such as polymerase chain reaction. The sample is usually obtained by cutaneous swabs from skin lesions." [PMID:12834453] +is_a: HP:0430117 ! Positive skin infectious agent test +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8055 + +[Term] +id: HP:6000542 +name: Positive CSF mycobacterium tuberculosis nucleic acid test +def: "Detection of Mycobacterium tuberculosis nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction." [] +is_a: HP:0430140 ! Positive CSF nucleic acid pathogen test +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8058 + +[Term] +id: HP:6000543 +name: Posiitive mycobacterium CSF culture +def: "Growth of mycobacterium in a culture derived from cerebrospinal fluid (CSF)." [] +is_a: HP:0430123 ! Positive CSF infectious agent test +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8059 + +[Term] +id: HP:6000544 +name: Positive mycobacterium CSF microscopy +def: "The demonstration of mycobacterium by microscopy of the cerebrospinal fluid (CSF)." [PMID:28105125] +comment: Ziehl-Neelsen (Z-N) staining of cerebrospinal fluid (CSF) for acid-fast bacilli (AFB) is the cornerstone of the laboratory diagnosis of tuberculous meningitis (TBM). However, the sensitivity of conventional Z-N staining for the detection of AFB in CSF specimens is suboptimal. +is_a: HP:0430123 ! Positive CSF infectious agent test +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8060 + +[Term] +id: HP:6000545 +name: Positive treponema pallidum PCR test in the blood circulation +def: "Detection of nucleic acid of treponema pallidum in the blood circulation by a method such a polymerase chain reaction." [PMID:35315702] +comment: Treponema pallidum is the causative agent of syphilis. +is_a: HP:0430067 ! Positive bloodstream nucleic acid pathogen test +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8061 + +[Term] +id: HP:6000546 +name: Positive human Immunodeficiency virus nucleic acid test in the blood circulation +def: "Detection of nucleic acid of human immunodeficiency vrus (HIV) in the blood circulation by a methiod such as polymerase chain reaction (PCR)." [] +is_a: HP:0430067 ! Positive bloodstream nucleic acid pathogen test +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8062 + +[Term] +id: HP:6000547 +name: Positive CSF enterovirus nucleic acid test +def: "Detection of enteroviral nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR." [PMID:9705364] +is_a: HP:0430140 ! Positive CSF nucleic acid pathogen test +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8063 + +[Term] +id: HP:6000548 +name: Positive CSF Borrelia burgdorferi nucleic acid test +def: "Detection of Borrelia burgdorferi nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction." [] +is_a: HP:0430140 ! Positive CSF nucleic acid pathogen test +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8065 + +[Term] +id: HP:6000549 +name: Positive CSF arbovirus nucleic acid test +def: "Detection of arbovus nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR.." [] +is_a: HP:0430140 ! Positive CSF nucleic acid pathogen test +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8066 + +[Term] +id: HP:6000550 +name: Positive Bartonella henselae nucleic acid test in the blood circulation +def: "Detection of nucleic acid of Bartonella henselae in the blood circulation by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR." [] +is_a: HP:0430067 ! Positive bloodstream nucleic acid pathogen test +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8067 + +[Term] +id: HP:6000551 +name: Positive Dengue virus PCR test in the blood circulation +def: "Detection of nucleic acid of the Dengue virus in the blood circulation by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR." [PMID:1372617] +comment: Dengue viruses (family Flaviviridae, genus Flavivirus) occur as four antigenically distinct serotypes. Infection with any of them generally leads to a mild, self-limiting febrile illness (dengue fever). However, a more severe form of the disease, involving vascular and hemostatic abnormalities (dengue hemorrhagic fever-dengue shock syndrome), is responsible for a high mortality rate, primarily among children. +is_a: HP:0430067 ! Positive bloodstream nucleic acid pathogen test +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8068 + +[Term] +id: HP:6000552 +name: Positive CSF JC-virus nucleic acid test +def: "Detection of JC-virus nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction." [] +comment: JC-virus is also known as JC-Polyomavirus and John Cunningham virus. +is_a: HP:0430140 ! Positive CSF nucleic acid pathogen test +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8069 + +[Term] +id: HP:6000553 +name: Bloodstream Malaria parasite +def: "Presence of malaria parasites in the peripheral blood." [PMID:35255896] +comment: The analysis of thick blood smears (TBS) is the reference method chosen as a first option for the malaria diagnosis worldwide. In this method, after a blood sample is taken and dried, the TBS is stained. After the staining process, the smear is visually analysed by microscopy, where parasites and leukocytes are identified and counted. +is_a: HP:0034523 ! Blood parasite +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8072 + +[Term] +id: HP:6000554 +name: Positive bloodstream plasmodium falciparum nucleic acid pathogen test +def: "Detection of nucleic acid of Plasmodium falciparum (a type of Malaria parasite) in the blood circulation by a method such as polymerase chain reaction (PCR)." [] +is_a: HP:0430067 ! Positive bloodstream nucleic acid pathogen test +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8073 + +[Term] +id: HP:6000555 +name: Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity +def: "Activity or concentration of fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) in red blood cells below the lower limit of normal." [PMID:2825199] +comment: Fructose-1,6-bisphosphate aldolase A (fructose-bisphosphate aldolase; EC 4.1.2.13) deficiency is an autosomal recessive disorder associated with hereditary hemolytic anemia. +is_a: HP:0030272 ! Abnormal erythrocyte enzyme concentration or activity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8223 + +[Term] +id: HP:6000556 +name: Reduced circulating dopamine beta-hydroxylase activity +def: "Concentration of Dopamine beta-hydroxylase (DBH; EC 1.14.17.1) in the blood circulation below the lower limit of normal. DBH catalyzes the oxidative hydroxylation of dopamine to norepinephrine." [PMID:11857564] +is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8224 + +[Term] +id: HP:6000557 +name: Reduced erythrocyte bisphosphoglycerate mutase activity +def: "Activity or concentration of bisphosphoglycerate mutase (BPGM; EC 5.4.2.4;) in red blood cells below the lower limit of normal. BPGM is a multifunctional enzyme specifically found in red blood cells that synthesizes 2,3-diphosphoglycerate through its synthase activity and degrades it through its phosphatase activity." [PMID:25015942] +is_a: HP:0030272 ! Abnormal erythrocyte enzyme concentration or activity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8225 + +[Term] +id: HP:6000558 +name: Reduced erythrocyte adenylate kinase activity +def: "Activity or concentration of in the level of adenylate kinase (EC 2.7.4.3) in erythrocytes below the lower limit of normal. Adenylate kinase is a ubiquitous monomeric enzyme that catalyzes the reversible conversion of MgATP plus AMP to MgADP plus ADP and contributes to homeostasis of the adenine nucleotide composition in the cell." [PMID:7947281] +is_a: HP:0030272 ! Abnormal erythrocyte enzyme concentration or activity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8226 + +[Term] +id: HP:6000559 +name: Reduced erythrocyte hexokinase activity +def: "Activity or concentration of hexokinase (EC 2.7.1.1) in red blood cells below the lower limit of normal. Arginase catalyzes the last step of the urea cycle." [PMID:7234862] +comment: Hexokinase catalyzes the first step in glucose metabolism, using ATP for the phosphorylation of glucose to glucose-6-phosphate. Four different forms of hexokinase, designated type HK1, HK2, HK3, and HK4, are present in mammalian tissues. +is_a: HP:0030272 ! Abnormal erythrocyte enzyme concentration or activity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8227 + +[Term] +id: HP:6000560 +name: Decreased circulating carboxypeptidase N activity +def: "Activity of the enzyme Carboxypeptidase N (arginine carboxypeptidase, EC 3.4.17.3) in the blood circulation below the lower limit of normal." [PMID:12560874] +comment: Carboxypeptidase N cleaves basic amino acid residues from the C terminal of peptides and proteins. +is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8228 + +[Term] +id: HP:6000561 +name: Elevated red cell pyruvate kinase activity +def: "Activity or concentration of pyruvate kinase (EC 2.7.1.40) in erythrocytes above the upper limit of normal. Pyruvate kinase (EC 2.7.1.40) is a glycolytic enzyme that catalyzes the transphosphorylation from phosphoenolpyruvate (PEP) to ADP, yielding pyruvate and ATP." [] +is_a: HP:0030272 ! Abnormal erythrocyte enzyme concentration or activity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8231 + +[Term] +id: HP:6000562 +name: Reduced circulating adenosine deaminase-2 activity +def: "Concentration of adenosine deaminase 2 in the blood circulation below the lower limit of normal." [PMID:24552285] +synonym: "Reduced circulating ADA2 activity" EXACT [] +is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8234 + +[Term] +id: HP:6000563 +name: Reduced sepiapterin reductase activity in cultured fibroblasts +def: "Acitivity of sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase; EC 1.1.1.153) below the lower limit of normal in cultured fibroblasts." [PMID:22522443] +is_a: HP:4000195 ! Abnormal enzyme activity in cultured fibroblasts +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8255 + +[Term] +id: HP:6000564 +name: Elevated circulating vasoactive intestinal peptide concentration +def: "The concentration of vasoactive intestinal peptide (VIP) in the blood circulation is above the upper limit of normal." [PMID:31559013] +comment: VIP is a gut peptide hormone originally reported as a vasodilator in 1970, has multiple physiological and pathological effects on development, growth, and the control of neuronal, epithelial, and endocrine cell functions that in turn regulate ion secretion, nutrient absorption, gut motility, glycemic control, carcinogenesis, immune responses, and circadian rhythms. +is_a: HP:0003117 ! Abnormal circulating hormone concentration +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8257 + +[Term] +id: HP:6000565 +name: Elevated circulating cholesterol sulfate concentration +def: "The concentration of cholesterol sulfate in the blood circulation is above the upper limit of normal." [PMID:12730293] +comment: holesterol sulfate is quantitatively the most important known sterol sulfate in human plasma. Cholesterol sulfate is a component of cell membranes where it has a stabilizing role, e.g., protecting erythrocytes from osmotic lysis and regulating sperm capacitation. It is present in platelet membranes where it supports platelet adhesion. Cholesterol sulfate can regulate the activity of serine proteases, e.g., those involved in blood clotting, fibrinolysis, and epidermal cell adhesion. As a result of its ability to regulate the activity of selective protein kinase C isoforms and modulate the specificity of phosphatidylinositol 3-kinase, cholesterol sulfate is involved in signal transduction. +is_a: HP:0003107 ! Abnormal circulating cholesterol concentration +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8258 + +[Term] +id: HP:6000566 +name: Elevated circulating lipoprotein X concentration +def: "The concentration of lipoprotein X in the blood circulation is above the upper limit of normal." [PMID:30503707] +comment: The hypercholesterolemia observed in cholestasis is due to the presence of an anomalous lipoprotein called lipoprotein-X (Lp-X). Lp-X is a lipoprotein rich in phospholipid and free cholesterol present in plasma of patients with cholestasis and, with some variations, in patients with lecithin-cholesterol-acyl-transferase deficiency (LCAT), and after lipid infusion. Lp-X is formed from a bile lipoprotein moving to the blood vessels where it incorporates small quantities of triglycerides, apo-C and esterified cholesterol and becomes a mature Lp-X. +is_a: HP:0025201 ! Abnormal circulating apolipoprotein concentration +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8260 + +[Term] +id: HP:6000567 +name: Elevated circulating oxalate concentration +def: "The concentration of oxalate in the blood circulation is above the upper limit of normal." [] +is_a: HP:0040145 ! Dicarboxylic acidemia +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8262 + +[Term] +id: HP:6000568 +name: Elevated blood ethylene glycol concentration +def: "The concentration of ethylene glycol in the blood is above the upper limit of a guidance value for total concentrations that implies possible injurious effects." [PMID:30725694] +comment: Ethylene glycol (C2H6O2) is a toxic alcohol that is found in various household and industrial agents including antifreeze. Exposures are generally observed due to accidental or intentional ingestions, with its sweet taste lending to accidental toxic exposures, whereas intentional exposures may be motivated by a suicide attempt or desire for inebriation in the absence of ethanol. +is_a: HP:0410172 ! Blood xenobiotic +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8263 + +[Term] +id: HP:6000569 +name: Midline notching of lower lip +def: "Exaggerated indentation at the very middle (midline) of the lower lip." [PMID:36084634] +comment: This feature has been observed in Orofaciodigital syndrome XIX (OMIM:620107). See Figure 1a of PMID:36084634. +is_a: HP:0000178 ! Abnormal lower lip morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/7760 + +[Term] +id: HP:6000570 +name: Reduced tissue thymidine phosphorylase activity +def: "Activity of thymidine phosphorylase (EC 2.4.2.4) in the tissues below the lower limit of normal. The activity can be measured in multiple tissues including leukocytes." [PMID:10852545] +synonym: "Reduced leukocyte thymidine phosphorylase activity" EXACT [] +is_a: HP:6000231 ! Abnormal tissue enzyme concentration or activity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8138 + +[Term] +id: HP:6000571 +name: Reduced tissue tripeptidyl peptidase 1 activity +def: "Activity of tripeptidyl peptidase 1 (TPP1;EC 3.4.14.9) in the tissues below the lower limit of normal. TTP1 activity can be measured in tissues including fibroblasts and leukocytes muscle." [PMID:37922835] +synonym: "Reduced leukocyte tripeptidyl peptidase 1 activity" EXACT [] +synonym: "Reduced tripeptidyl peptidase 1 activity in cultured fibroblasts" EXACT [] +is_a: HP:6000231 ! Abnormal tissue enzyme concentration or activity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8139 + +[Term] +id: HP:6000572 +name: Reduced tissue arginine:glycine amidinotransferase activity +def: "Activity of L-arginine:glycine amidinotransferase (GATM; EC 2.1.4.1) in the tissues below the lower limit of normal. GATM activity can be measured in multiple tissues including leukocytes and cultured fibroblasts." [PMID:22386973] +is_a: HP:6000231 ! Abnormal tissue enzyme concentration or activity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8142 + +[Term] +id: HP:6000573 +name: Reduced tissue aspartylglucosaminidase activity +def: "Activity of aspartylglucosaminidase (AGA; EC 3.5.1.26) in the tissues below the lower limit of normal. AGA activity can be measured in multiple tissues including leukocytes and cultured fibroblasts." [PMID:1904874] +is_a: HP:6000231 ! Abnormal tissue enzyme concentration or activity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8161 + +[Term] +id: HP:6000574 +name: Reduced tissue carnitine-acylcarnitine translocase activity +def: "Activity of carnitine-acylcarnitine translocase (CACT) in tissues below the lower limit of normal. CACT activity can be measured in multiple tissues." [PMID:9323572] +is_a: HP:6000231 ! Abnormal tissue enzyme concentration or activity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8163 + +[Term] +id: HP:6000575 +name: Reduced circulating 6-pyruvoyltetrahydropterin synthase activity +def: "The activity of 6-pyruvoyltetrahydropterin synthase in the blood circulation is below the lower limit of normal." [PMID:3297709] +is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8164 + +[Term] +id: HP:6000576 +name: Reduced tissue mannosyl-oligosaccharide glucosidase activity +def: "Activity of mannosyl-oligosaccharide glucosidase (MOGS) in tissues below the lower limit of normal. MOGS activity can be measured in multiple tissues including liver and cultured fibroblasts." [PMID:10788335] +is_a: HP:6000231 ! Abnormal tissue enzyme concentration or activity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8177 + +[Term] +id: HP:6000577 +name: Reduced tissue 3-methylglutaconyl-CoA hydratase activity +def: "Activity of the mitochondrial enzyme 3-methylglutaconyl-CoA hydratase (EC 4.2.1.18) in tissues below the lower limit of normal. The activity can be measured in multiple tissues including culutured fibroblasts." [PMID:3082934] +is_a: HP:6000231 ! Abnormal tissue enzyme concentration or activity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8178 + +[Term] +id: HP:6000578 +name: Reduced tissue gamma-glutamyltransferase activity +def: "Activity of gamma-glutamyltransferase in the tissues below the lower limit of normal. The activity can be measured in multiple tissues including leukocytes and cultured fibroblasts." [PMID:29483667] +is_a: HP:6000231 ! Abnormal tissue enzyme concentration or activity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8190 + +[Term] +id: HP:6000579 +name: Positive oropharangeal infectious agent test +def: "Any kind of test for an infectious agent in the oropharynx positive. The oropharynx is defined as the middle part of the throat and includes the soft palate, the side and back walls of the throat, the tonsils, and the posterior one-third of the tongue." [] +is_a: HP:0430030 ! Positive infectious agent test +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8075 + +[Term] +id: HP:6000580 +name: Positive oropharynx poliovirus nucleic acid test +def: "Detection of poliovirus nucleic acid in the oropharynx by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR." [] +is_a: HP:6000579 ! Positive oropharangeal infectious agent test +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8075 + +[Term] +id: HP:6000581 +name: Positive synonvial fluid infectious agent test +def: "Any kind of test for an infectious agent in the synovial fluid (i.e., in a joint) positive." [] +is_a: HP:0430030 ! Positive infectious agent test +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8077 + +[Term] +id: HP:6000582 +name: Positive synonvial fluid culture +def: "Growth of an infectious agent in a culture derived from synovial fluid." [] +is_a: HP:6000581 ! Positive synonvial fluid infectious agent test +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8077 + +[Term] +id: HP:6000583 +name: Positive synovial fluid gram stain +def: "Demonstration of the presence of bacteria by gram staining of joint (synovial) fluid. The sample is generally obtained by arthrocentesis." [PMID:21250117] +is_a: HP:6000581 ! Positive synonvial fluid infectious agent test +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8078 + +[Term] +id: HP:6000584 +name: Anti Parvovirus antibody positivity +def: "The presence of antibodies in the blood circulation that react against a component of parvovirus." [] +is_a: HP:0430059 ! Positive bloodstream virus-specific antibody positivity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8079 + +[Term] +id: HP:6000585 +name: Brain parenchymal tuberculoma +def: "Tuberculoma results from hematogenous spread of Mycobacterium tuberculosis (M. tb) from an extracranial source. Diagnosis is based on computed tomography (CT) scan and magnetic resonance imaging (MRI) studies with a similar ring-enhancing lesion." [PMID:34900500] +comment: It is estimated that TB in the brain parenchyma develops in nearly one of 300 non-treated cases of pulmonary TB cases, and in half of the patients with disseminated TB. Imaging studies, such as CT and MRI with contrast enhancement, are the basis for diagnosis of tuberculoma. The most common image of tuberculoma is a ring-enhancing lesion due to the absence of blood supply in the caseous necrosis center within the tuberculoma. MRI is slightly superior for showing the size of brain lesions and helps to identify the solid caseous necrosis. Images of caseating tuberculoma are generally composed of three zones, an inner iso-intense and hypo-intense layer image due to caseous necrosis (signals in T1WI and T2WI, respectively). In this zone, fluid-attenuated inversion recovery (FLAIR) images reflect extensive necrosis and hypercellularity. A middle layer with hypo-intense and hyperintense signals due to the presence of Langhans giant cells, epithelioid cells, and edema (in T1WI and T2WI, respectively) is enhanced with gadolinium in contrast images, whereas the external layer shows iso-intense and hypo-intense component (signals in T1WI and T2WI) due to the collagenous capsule. +is_a: HP:0012443 ! Abnormal brain morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8940 + +[Term] +id: HP:6000586 +name: Muscle arteriovenous malformation +def: "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in muscle tissue." [] +synonym: "Arteriovenous malformation in muscle" EXACT [] +synonym: "Muscle AVM" EXACT [] +is_a: HP:0100026 ! Arteriovenous malformation +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8944 + +[Term] +id: HP:6000587 +name: Bone arteriovenous malformation +def: "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in a bone." [] +synonym: "Bone vascular malformation" EXACT [] +is_a: HP:0100026 ! Arteriovenous malformation +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8945 + +[Term] +id: HP:6000588 +name: Periosteal elevation +def: "Lifting or separation of the periosteum from the outer surface of a bone. Periosteal elevation is usually seen in benign process, frequently in cranioencephalic traumas. There is an elevation of the periosteum after blood, like in cephalohematomas." [PMID:32923528] +is_a: HP:0030313 ! Abnormal periosteum morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8951 + +[Term] +id: HP:6000589 +name: Esophageal dilation +def: "Widening (relatively uniform increase in diameter) of a segment of the esophagus." [PMID:26639310] +comment: This feature can be ascertained by chest computed tomography. +is_a: HP:0002031 ! Abnormal esophagus morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8967 + +[Term] +id: HP:6000590 +name: Spinal lipoma +def: "A lipoma that is localized to the spine." [] +is_a: HP:0012032 ! Lipoma +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8971 + +[Term] +id: HP:6000591 +name: Loose body in joint +def: "Small fragments of articular cartilage that break off in a joint as a result of a injury, degeneration, or other processes." [PMID:30451404] +comment: This abnormality may be observed upon joint imaging in individuals with diseases such as foreign body arthritis, pigmented villonodular synovitis, synovial chondromatosis, and osteochondritis dissecans. +is_a: HP:0001367 ! Abnormal joint morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8973 + +[Term] +id: HP:6000592 +name: Paraspinal arteriovenous malformation +def: "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in adjacent to the spine, i.e., in a location that is normally occupied by muscles, ligaments, nerves, and other tissues that run alongside the spinal column." [] +is_a: HP:0100026 ! Arteriovenous malformation +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8977 + +[Term] +id: HP:6000593 +name: Supernumerary tarsal bone +def: "The presence of an additional tarsal bone that is not one of the canonical tarsal bones (cuboid, medial, intermediate, and lateral cuneiform, navicular, talus, calcaneus)." [PMID:9272214] +synonym: "Accessory tarsal bone" EXACT [] +is_a: HP:0001850 ! Abnormality of the tarsal bones +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8978 + +[Term] +id: HP:6000594 +name: Maxillary cyst +def: "A closed sac that has developed in the upper jaw bone (maxilla) and contains fluid or semi-solid material. Cystic lesions of the maxilla are benign entities with both odontogenic and non-odontogenic origins." [] +is_a: HP:0000326 ! Abnormal maxilla morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8928 + +[Term] +id: HP:6000595 +name: Mandibular cyst +def: "A closed sac that has developed in the lower jaw bone (mandibula) and contains fluid or semi-solid material." [] +is_a: HP:0000277 ! Abnormal mandible morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8929 + +[Term] +id: HP:6000596 +name: Sixth cranial nerve hypoplasia +def: "Underdevelopment of the six cranial nerve (abducens nerve)." [PMID:28613463] +comment: Cranial nerve six (CN VI) is one of the nerves responsible for the extraocular motor functions of the eye, along with the oculomotor nerve (CN III) and the trochlear nerve (CN IV). +is_a: HP:0011348 ! Abnormal sixth cranial nerve morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8934 + +[Term] +id: HP:6000597 +name: Third cranial nerve hypoplasia +def: "Underdevelopment of the third cranial nerve (oculomotor nerve)." [] +is_a: HP:0001291 ! Abnormal cranial nerve morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8935 + +[Term] +id: HP:6000598 +name: Elevated urinary succinylacetone level +def: "Presence in the urine of succinylacetone, which is one of the toic block metabolites formed in tyrosinaemia type 1 because of a defect in the final enzyme of the pathway of the degradation of tyrosine, namely fumarylacetoacetase (FAH, EC 3.7.1.2)." [PMID:23311542] +comment: As a result of the metabolic block in tyrosinaemia type 1, toxic metabolites are formed including succinylacetone, maleylacetoacetate and fumarylacetoacetate. These are responsible for severe disruption of intracellular metabolism of the liver and kidney. +is_a: HP:0033354 ! Abnormal urine metabolite level +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8577 + +[Term] +id: HP:6000599 +name: Elevated urinary 2-oxoisocaproic level +def: "The amount of 2-oxoisocaproic in the urine, normalized for urine concentration, is above the upper limit of normal." [] +comment: Elevated levels of 2-oxoisocaproic acid can be found in individuals with Maple syrup urine disease. +is_a: HP:0033097 ! Increased urine proteinogenic amino acid derivative level +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8578 + +[Term] +id: HP:6000600 +name: Elevated urinary 2-oxovaleric acid level +def: "The amount of 2-oxovaleric acid in the urine, normalized for urine concentration, is above the upper limit of normal." [] +synonym: "Elevated urinary alpha-ketovalerate level" EXACT [] +is_a: HP:0033456 ! Elevated urine keto acid level +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8580 + +[Term] +id: HP:6000601 +name: Elevated urinary 2-hydroxyisocaproic acid level +def: "The amount of 2-hydroxyisocaproic acid in the urine, normalized for urine concentration, is above the upper limit of normal." [] +is_a: HP:0033097 ! Increased urine proteinogenic amino acid derivative level +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8582 + +[Term] +id: HP:6000602 +name: Elevated urinary isovalerylglycine level +def: "The amount of isovalerylglycine in the urine, normalized for urine concentration, is above the upper limit of normal." [PMID:17850781] +comment: Isovalerylglycine (IVG) is an acyl glycine. The excretion of certain IVG is increased in isovaleric acidemia. +is_a: HP:0012073 ! Abnormal urinary acylglycine profile +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8584 + +[Term] +id: HP:6000603 +name: Elevated urinary 2-methyl-3-hydroxybutyric acid level +def: "The amount of 2-methyl-3-hydroxybutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal." [PMID:9700610] +comment: 2-methyl-3-hydroxybutyric acid is a normal urinary metabolite involved in the isoleucine catabolism and is excreted in abnormally high amounts in alpha-methylacetoacetic aciduria. +is_a: HP:0033097 ! Increased urine proteinogenic amino acid derivative level +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8588 + +[Term] +id: HP:6000604 +name: Elevated urinary 3-hydroxypentanoic acid level +def: "The amount of 3-hydroxypentanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal." [] +is_a: HP:0034653 ! Monocarboxylic aciduria +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8592 + +[Term] +id: HP:6000605 +name: Elevated urinary 7-hydroxyoctanoic acid level +def: "The amount of 7-hydroxyoctanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal." [] +is_a: HP:0034653 ! Monocarboxylic aciduria +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8598 + +[Term] +id: HP:6000606 +name: Elevated urinary D-glyceric acid level +def: "The amount of D-glyceric acid in the urine, normalized for urine concentration, is above the upper limit of normal." [PMID:20949620] +is_a: HP:0031980 ! Abnormal urine carboxylic acid level +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8607 + +[Term] +id: HP:6000607 +name: Elevated urinary 3-hydroxyisobutyric acid level +def: "The amount of 3-hydroxyisobutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal." [PMID:23835272] +is_a: HP:0031980 ! Abnormal urine carboxylic acid level +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8609 + +[Term] +id: HP:6000608 +name: Elevated urinary 3,4-Dihydroxybutyric acid level +def: "The amount of 3,4-Dihydroxybutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal." [PMID:12127325] +is_a: HP:0010996 ! Abnormal circulating monocarboxylic acid concentration +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8611 + +[Term] +id: HP:6000609 +name: Elevated urinary 3-hydroxyadipic acid level +def: "The amount of 3-hydroxyadipic acid in the urine, normalized for urine concentration, is above the upper limit of normal." [] +synonym: "Elevated urinary 3-hydroxyadipate level" EXACT [] +is_a: HP:0003215 ! Dicarboxylic aciduria +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8612 + +[Term] +id: HP:6000610 +name: Elevated erythrocyte galactose-1-phosphate concentration +def: "Concentration of galactose-1-phosphate in red blood cells (erythrocytes) above the upper level of normal." [PMID:30172461] +comment: Impaired activity of galactose-1-phosphate uridyltransferase (GALT) causes classic galactosemia (OMIM 230400), characterized by the accumulation of galactose-1-phosphate (GAL1P) in patients' red blood cells (RBCs). +is_a: HP:0034737 ! Abnormal erythrocyte metabolite concentration +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8272 + +[Term] +id: HP:6000611 +name: Elevated circulating chitotriosidase activity +def: "Increased activity or concentration of the enzyme chitotriosidase. Serum chitotriosidase is a biomarker that has shown high specificity and sensitivity in patients with sarcoidosis." [PMID:31906975] +comment: Significantly higher chitotriosidase activity can be observed in sarcoidosis patients than in healthy controls. +is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8273 + +[Term] +id: HP:6000612 +name: Squamosal suture synostosis +def: "Premature closure of the squamosal suture, which is one of the lateral minor skull sutures, separating the parietal and squamous temporal bones." [PMID:27438438] +is_a: HP:0001363 ! Craniosynostosis +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/9000 + +[Term] +id: HP:6000613 +name: Enlarged fetal lungs +def: "The size (volume) of the lungs of a fetus above the upper limit of normal for the gestational age." [PMID:7747754] +is_a: HP:0034243 ! Abnormal fetal pulmonary morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/9008 + +[Term] +id: HP:6000614 +name: Orbital inflammation +def: "An inflammatory condition localized to the orbit, presenting capillary dilatation, leukocytic infiltration, redness, heat, and pain. CT or MIR Imaging demonstrates enlargement of the muscle belly of one (or more) extraocular muscles typically with the involvement of tendinous insertions. Inflammation can also be observed in surrounding tissues, including the orbital fat, lacrimal gland, and optic nerve sheath." [] +is_a: HP:0000315 ! Abnormality of the orbital region +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/9016 + +[Term] +id: HP:6000615 +name: Reduced Inositol polyphosphate 5-phosphatase OCRL-1 activity in cultured fibroblasts +def: "Concentration or activity of inositol polyphosphate 5-phosphatase OCRL-1 as measured in cultured fibroblasts is below the limits of normal. This enzyme has phosphoinositide 5-phosphatase (EC 3.1.3.36) activity." [PMID:20301653] +is_a: HP:4000195 ! Abnormal enzyme activity in cultured fibroblasts +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/9071 + +[Term] +id: HP:6000616 +name: Reduced muscle glycogen debrancher enzyme activity +def: "Activity of the gycogen debrancher enzyme (GDE) in muscle tissue is below the lower limit of normal. GDE is a large monomeric protein with two catalytic activities: amylo-1,6-glucosidase (EC 3.2.1.33) and 4-alpha-glucanotransferase (EC 2.4.1.25)." [PMID:10472540] +is_a: HP:0034526 ! Abnormal enzyme activity in muscle tissue +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/9073 + +[Term] +id: HP:6000617 +name: Reduced tissue UDP-glucuronyl-transferase activity +def: "Concentration or activity of uridine diphosphate glucuronosyltransferase below the lower limit of normal. The activity of this enzyme can be measured in liver and rarely in other tissues." [PMID:9869613] +synonym: "Reduced liver uridine diphosphate glucuronosyltransferase activity" EXACT [] +synonym: "Reduced tissue uridine diphosphate glucuronosyltransferase activity" EXACT [] +is_a: HP:6000231 ! Abnormal tissue enzyme concentration or activity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/9091 + +[Term] +id: HP:6000618 +name: Temporal artery giant cells +def: "The presence of giant cells in the temporal artery. This is a feature of giant cell arteritis. Giant cells are multinucleated cells formed by fusion of multiple macrophages and are typically located in the intima of the arterial wall. This feature is typically demonstrated by temporal artery biopsy but other arteries may also be affected." [PMID:37787225] +comment: See Figure 1 of PMID:37787225. +is_a: HP:0430104 ! Abnormal superficial temporal artery morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/9092 + +[Term] +id: HP:6000619 +name: Reduced phosphoenolpyruvate carboxykinase activity in cultured fibroblasts +def: "Activity of phosphoenolpyruvate carboxykinase (EC 4.1.1.32) is below the lower limit of normal in cultured fibroblasts." [PMID:107509] +is_a: HP:4000195 ! Abnormal enzyme activity in cultured fibroblasts +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/9099 + +[Term] +id: HP:6000620 +name: Elevated urinary pyrroline hydroxycarboxylic acid level +def: "The amount of pyrroline hydroxycarboxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal." [PMID:9700195] +synonym: "Elevated urinary 3-hydroxy-L-1-pyrroline-5-carboxylate level" EXACT [] +synonym: "Elevated urine L-delta1-pyrroline 3-hydroxy-5-carboxylate level" EXACT [] +is_a: HP:0040156 ! Elevated urinary carboxylic acid +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8844 + +[Term] +id: HP:6000621 +name: Elevated urinary N-tau-ribosylhistidine level +def: "Presence of N tau-ribosylhistidine (His-R) in the urine. His-R is a histidine derivative found in the urine of histidinemic patients." [PMID:2992472] +synonym: "Elevated urinary N-ribosylhistidine level" EXACT [] +is_a: HP:0033097 ! Increased urine proteinogenic amino acid derivative level +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8850 + +[Term] +id: HP:6000622 +name: Elevated urinary ureidoisobutyric acid level +def: "The amount of ureidoisobutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal. Ureidoisobutyric acid is increased in the urine of patients with beta-ureidopropionase (EC 3.5.1.6) deficiency." [PMID:12271438] +is_a: HP:0033303 ! Elevated urinary monocarboxylic acid level +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8852 + +[Term] +id: HP:6000623 +name: Elevated urinary N-carbamyl-beta-aminoisobutyric acid level +def: "The amount of N-carbamyl-beta-aminoisobutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal." [] +is_a: HP:0033303 ! Elevated urinary monocarboxylic acid level +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8854 + +[Term] +id: HP:6000624 +name: Nipple epidermal Paget cells +def: "Malignant, intraepithelial adenocarcinoma cells of variable sizes usually large in size, present singly or in the form of small groups within the epidermis of the nipple. Cells may be ovoid, round, or signet-ring forms, usually mucin positive, and the cytoplasm may contain periodic acid-Schiff (PAS)-positive, diastase-resistant granules, indicating the presence of neutral mucopolysaccharides. The cells possess microscopic features of glandular cells with pale to clear vacuolated cytoplasm, and nuclei are usually high-grade with prominent nucleoli." [PMID:33085375] +is_a: HP:0004404 ! Abnormal nipple morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10089 + +[Term] +id: HP:6000625 +name: Penile corporal blood gas ischemia +def: "Partial pressure of oxygen (pO2) in cavernous blood of the penis is below the lower limit of normal." [PMID:38496140] +is_a: HP:0000036 ! Abnormal penis morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10100 + +[Term] +id: HP:6000626 +name: Recent temporal region trauma +def: "A history of an injury to the temporal region of the skull that occurred recently (several hours, days, or weeks before the current presenting complaint)." [] +is_a: HP:4000144 ! Recent past medical history +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10105 + +[Term] +id: HP:6000627 +name: Rest limb pain +def: "Rest pain is a continuous unrelenting pain due to ischemia of the lower leg, beginning with or being aggravated by elevation and being relieved by sitting with legs in a dependent position or by standing." [PMID:25770636, PMID:28613608] +synonym: "Critical limb ischemia" EXACT [] +is_a: HP:0025323 ! Abnormal arterial physiology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0009-0005-6714-5727 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10106 + +[Term] +id: HP:6000628 +name: Scalloped appearance of liver surface +def: "A lesion associated with pseudomyxoma peritonei whosetypical CT appearance is scalloping of the surface of the liver and spleen caused by loculated accumulations of mucin, which distinguishes mucin from fluid ascites. The mucinous material is similar in density to water. There are also islands of higher attenuation due to scattered solid elements and calcification within mucinous material." [PMID:31082160] +synonym: "Scalloping of surface of liver and spleen" EXACT [] +synonym: "Scalloping of the surface of the liver and spleen" EXACT [] +is_a: HP:0410042 ! Abnormal liver morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10109 + +[Term] +id: HP:6000629 +name: Nipple thickening +def: "Thickening of the skin around the nipple." [] +is_a: HP:0004404 ! Abnormal nipple morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10111 + +[Term] +id: HP:6000630 +name: Hypoechoic breast mass +def: "A breast mass visualized by sonography that displays a lower than normal echo signal (and this that appears dark gray in the typical ultrasound image)." [PMID:26576116] +comment: Ultrasonography (US) is an essential tool for evaluating breast masses. Irregular hypoechoic masses on breast ultrasound are usually considered suspicious lesions. +synonym: "Hypoechoic breast nodule" EXACT [] +is_a: HP:0032408 ! Breast mass +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10113 + +[Term] +id: HP:6000631 +name: Unilocular ovarian cyst +def: "An ovarian cyst without septa and a solid component." [PMID:25797108] +is_a: HP:0000138 ! Ovarian cyst +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10114 + +[Term] +id: HP:6000632 +name: Mesenteric torsion +def: "Mesenteric torsion is a pathological rotation of the intestinal tract around the axis of the mesenteric root, resulting in rapid occlusion of the cranial mesenteric artery." [] +is_a: HP:0100016 ! Abnormal mesentery morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10115 + +[Term] +id: HP:6000633 +name: High-pitched bowel sounds +def: "Abnormal bowel sounds of an unually high frequency." [PMID:30252358] +comment: This finding is characteristic of Ogilvie syndrome. +is_a: HP:0030142 ! Abnormal bowel sounds +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10116 + +[Term] +id: HP:6000634 +name: Exacerbated by opiate medication +def: "Applied to a sign orr symptom that is worsed by administration of opiate medications." [] +comment: Opiate drugs increase pain in narcotic bowel syndrome. +is_a: HP:4000176 ! Aggravated by exposure to medication +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10117 + +[Term] +id: HP:6000635 +name: Breast granuloma +def: "Formation of a non-necrotizing granuloma in breat tissue typically in combination with a localized infiltrate of multi-nucleated giant cells, epithelioid histiocytes, lymphocytes, and plasma cells." [PMID:30800035] +synonym: "Granulomatous mastitis" EXACT [] +is_a: HP:0032252 ! Granuloma +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10127 + +[Term] +id: HP:6000636 +name: Exposure to cosmetic fragrances +def: "A history of exposure to fragrances found in cosmetic products." [] +is_a: HP:4000110 ! Exposure history +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10149 + +[Term] +id: HP:6000637 +name: Sweating and flushing in the preauricular area in response to mastication +def: "Sweating and flushing in the preauricular area in response to mastication or a salivary stimulus. Facial warmth, flushing, and sweating in the territory of the auriculotemporal nerve overlying the parotid gland, which may include the preauricular skin, the temporal skin, the scalp, and the temporomandibular joint region. Symptoms occur during meals, especially with spicy and sour foods. This feature is inferred to be a consequence of injury to the auriculotemporal nerve, a branch if the trigeminal nerve." [PMID:32965918] +synonym: "Frey syndrome" EXACT [] +is_a: HP:0031911 ! Abnormal fifth cranial nerve physiology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10151 + +[Term] +id: HP:6000638 +name: Reduced hepatic glyoxylate reductase activity +def: "Activity of glyoxylate reductase/hydroxypyruvate reductase (GRHPR; EC 1.1.1.79) in liver below the lower limit of normal." [PMID:12185464] +synonym: "Reduced hepatic hydroxypyruvate reductase activity" EXACT [] +is_a: HP:0034685 ! Abnormal liver enzyme activity or concentration +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/9159 + +[Term] +id: HP:6000639 +name: PAS-positive lymphocyte vacuolization +def: "Presence of lymphocytes with positive staining for periodic acid-Schiff (PAS) cytoplasmic vacuoles." [PMID:20107902] +comment: Pompe disease (glycogen storage disease type II, acid maltase deficiency) is an inherited metabolic disorder in which a deficiency of the lysosomal enzyme acid alpha-glucosidase (EC 3.2.1.3/20) causes glycogen storage. Vacuolated lymphocytes - in essence, lysosomes filled with nondegraded material occur in many storage disorders. Glycogen storage in Pompe disease is found in lysosomes throughout the body, including lymphocytes in peripheral blood, liver, and skin. +is_a: HP:0001922 ! Vacuolated lymphocytes +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/9162 + +[Term] +id: HP:6000640 +name: Lipid-laden bone-marrow macrophages +def: "Bone marrow with increased numbers of macrophages heavily laden with lipids." [] +is_a: HP:0005561 ! Abnormal bone marrow cell morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/9175 + +[Term] +id: HP:6000641 +name: Bone marrow monocytosis +def: "Increased count of monocytes in the bone marrow." [] +synonym: "Bone marrow monocytes increased" EXACT [] +is_a: HP:0005561 ! Abnormal bone marrow cell morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/9177 + +[Term] +id: HP:6000642 +name: Sunflower cataract +def: "Sunflower cataract (SC) is a type of anterior subcapsular cataract almost only seen in Wilson disease, an autosomal-recessive condition with a defect in the metabolism of copper leading to accumulation of copper in the liver and basal ganglia. SC consists of a thin, centralized opacification that is located directly under the anterior capsule and encompasses between one-third and one-half of the anterior lens pole surface area. In all cases, the central opacification is surrounded by additional, secondary opacifications arranged in ray-like structures around it. This pattern is said to resemble a sunflower, with a large central disk surrounded by petals." [PMID:25609909, PMID:26577266] +is_a: HP:0010923 ! Anterior subcapsular cataract +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10396 + +[Term] +id: HP:6000643 +name: Anti-lamin A antibody positivity +def: "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against lamin A." [PMID:1959878, PMID:2271902] +synonym: "ki-67 antibody positivity" EXACT [] +synonym: "LMNA antibody positivity" EXACT [] +synonym: "PCNA antibody positivity" EXACT [] +synonym: "Prelamin A antibody positivity" EXACT [] +is_a: HP:0030057 ! Autoimmune antibody positivity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2854-0167 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10397 + +[Term] +id: HP:6000644 +name: Anti-lamin C antibody positivity +def: "The presence of autoantibodies in the blood circulation that react against human lamin C." [PMID:1290474, PMID:1959878] +synonym: "Prelamin C antibody positivity" EXACT [] +is_a: HP:0030057 ! Autoimmune antibody positivity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2854-0167 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10398 + +[Term] +id: HP:6000645 +name: Anti-vinculin antibody positivity +def: "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against vinculin." [PMID:33411141, PMID:35876914] +is_a: HP:0030057 ! Autoimmune antibody positivity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2854-0167 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10399 + +[Term] +id: HP:6000646 +name: Anti-annexin A5 antibody positivity +def: "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against annexin A5." [PMID:15652780, PMID:9067499] +is_a: HP:0030057 ! Autoimmune antibody positivity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2854-0167 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10400 + +[Term] +id: HP:6000647 +name: Bulging fontanelle +def: "An outward curving of a fontanelle, which occurs when fluid builds up in the brain or the brain swells, causing increased pressure inside the skull." [PMID:12825844] +synonym: "Tense fontanelle" EXACT [] +is_a: HP:0011328 ! Abnormality of fontanelles +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10403 + +[Term] +id: HP:6000648 +name: 3-4 toe cutaneous syndactyly +def: "A soft tissue continuity in the anteroposterior axis between the toes 3 and 4." [PMID:25251565] +is_a: HP:0010621 ! Cutaneous syndactyly of toes +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0009-0007-1020-5412 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10406 + +[Term] +id: HP:6000649 +name: Triangular nail +def: "Nail so wide as long with a distal part presenting an acute angle." [PMID:20579456, PMID:25251565, PMID:27660117] +synonym: "Triangular shaped nail" EXACT [] +is_a: HP:0001597 ! Abnormality of the nail +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10407 + +[Term] +id: HP:6000650 +name: Distal tibiofibular synostosis +def: "Fusion of the distal (i.e.., located away from the trunk) part of the tibia and fibula." [PMID:27326275, PMID:27577507] +synonym: "Distal tibial and fibular fusion" EXACT [] +is_a: HP:0005928 ! Synostosis involving the fibula +is_a: HP:0005929 ! Synostosis involving the tibia +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0009-0007-1020-5412 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10412 + +[Term] +id: HP:6000651 +name: Abnormal metacarpal ossification +def: "Any abnormal process of ossification of the metacarpal bones, which normally are each ossified from two centers: one for the body, and one for the head (metacarpal II,III,IV, and V) and one for the body and one for the base (metacarpal I). At the eighth to ninth week of fetal life, ossification commences in the middle of the body. At the third year the distal extremities of the metacarpals of the fingers and the base of the metacarpal of the thumb begin to ossify; they unite with the bodies at about the twentieth year." [PMID:12624140] +synonym: "Abnormal maturation of long bone of hand" EXACT [] +synonym: "Abnormal ossification involving metacarpal bones" EXACT [] +is_a: HP:0005916 ! Abnormal metacarpal morphology +is_a: HP:0010660 ! Abnormal hand bone ossification +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8612-1062 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10413 + +[Term] +id: HP:6000652 +name: Rib spur +def: "A bony projection (spur, osteophyte) originating from a rib." [PMID:36388615] +is_a: HP:0000772 ! Abnormal rib morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0009-0007-1020-5412 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10415 + +[Term] +id: HP:6000653 +name: Crescent-shaped iliac bone +def: "Deficient mineralization of the iliac wings, giving a paraglider/crescent shape to the iliac bone." [PMID:28744080] +synonym: "Crescent-shaped iliac wing" EXACT [] +synonym: "Paraglider shape iliac bone" EXACT [] +is_a: HP:0000772 ! Abnormal rib morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8612-1062 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10416 + +[Term] +id: HP:6000654 +name: Abnormal ischium ossification +def: "An abnormality of the formation and mineralization of ischial bones." [PMID:9933334] +synonym: "Abnormal ossification of the ischium" EXACT [] +is_a: HP:0003174 ! Abnormal ischium morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0009-0007-1020-5412 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10417 + +[Term] +id: HP:6000655 +name: Femoral neck fracture +def: "A partial or complete breakage of the neck of femur." [PMID:30726032] +synonym: "Broken femoral neck" EXACT [] +synonym: "Fractured neck of femur" EXACT [] +is_a: HP:0031846 ! Femur fracture +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0009-0007-1020-5412 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/10419 + +[Term] +id: HP:6000656 +name: Papillary dermis eosinophilic hyaline material +def: "Accumulation of eosinophilic hyaline material observed around the papillary dermis and the blood vessels located in it. The papillary dermis is the uppermost layer of the dermis. It intertwines with the rete ridges of the epidermis and is composed of fine and loosely arranged collagen fibers." [PMID:26803878] +is_a: HP:0034924 ! Abnormal dermis morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/9229 + +[Term] +id: HP:6000657 +name: Pancreatic intraductal papillary mucinous neoplasm +def: "Intraductal papillary mucinous neoplasm (IPMN) is an exocrine neoplasm of the pancreas consisting of epithelial cells growing within the pancreatic ducts (main pancreatic duct or its major branches) and producing mucin. IPMN is a mucin-producing pancreatic cystic tumor. IPMN contains epithelial cells that can create papillary projections." [PMID:35070031] +is_a: HP:0002894 ! Neoplasm of the pancreas +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/9296 + +[Term] +id: HP:6000658 +name: Medium vessel vasculitis +def: "A type of vasculitis (inflammation of blood vessel walls) that affects medium-sized blood vessels. By common usage, vasculitis predominantly refers to arterial disease. Medium-sized vasculitis is observed in diseases including polyarteritis nodosa, Kawasaki disease, and cutaneous polyarteritis nodosa." [PMID:19946711] +synonym: "Medium-size-vessel vasculitis" EXACT [] +is_a: HP:0034784 ! Vasculitis by anatomical site +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/9314 + +[Term] +id: HP:6000659 +name: Elevated muscle fiber laminin alpha 5 expression +def: "A decreased amount of laminin alpha-5 in muscle tissue. This feature can be shown by immunohistochemistry or Western blotting of muscle tissue. Laminin subunit alpha-5 is a protein encoded by the LAMA5 gene." [PMID:21953594] +is_a: HP:0030089 ! Abnormal muscle fiber protein expression +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/9419 + +[Term] +id: HP:6000660 +name: Paravertebral mass +def: "A swelling or enlargment localized next to the vertebral column. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined." [PMID:30517335] +is_a: HP:0000925 ! Abnormality of the vertebral column +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8987 + +[Term] +id: HP:6000661 +name: Phlebolith +def: "A calcified structure that forms within a vein. The pathogenesis of phleboliths is thought to involve an organized thrombus produced when the peripheral blood flow slows. The thrombus calcifies, form- ing the core of the phlebolith. Then, the fibrinous com- ponent undergoes secondary calcification and becomes attached. Repetition of this process causes enlargement of the phlebolith." [PMID:37981851] +is_a: HP:0001977 ! Abnormal thrombosis +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8994 + +[Term] +id: HP:6000662 +name: Bladder rupture +def: "A perforation in the wall of the urinary bladder. Bladder rupture, a relatively rare condition, is most commonly due to abdominal or pelvic trauma but may be spontaneous or iatrogenic in association with surgical or endoscopic procedures. In most cases, patients with bladder rupture have gross hematuria. Other symptoms of bladder rupture include pelvic pain, lower abdominal pain, and difficulty voiding." [PMID:29262195] +is_a: HP:0025487 ! Abnormal bladder morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8996 + +[Term] +id: HP:6000663 +name: Elevated myocardial iron load +def: "Increased amount of iron in myocardial tissue." [PMID:16888797, PMID:28458697] +comment: This feature can be assesed by magnetic resonance imaging (MRI). MRI as a reliable, valid, and robust method can provide indirect assessment of cardiac iron overload. Even, it has been advised to determination the degree of cardiac iron overload.8 The reciprocals of T2 and T2*, known as R2 and R2*, are directly proportional to iron. This feature can be seen as a consequence of transfusion treatment in thalassemia. +synonym: "Cardiac iron overload" EXACT [] +synonym: "MRI: heart iron content increased" EXACT [] +is_a: HP:0001637 ! Abnormal myocardium morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8997 + +[Term] +id: HP:6000664 +name: Right ventricular regional wall motion abnormality +def: "The occurrence of abnormal or absent contractility of a region of the heart muscle of the right ventricule. Conventional assessment of RWMA is based on visual interpretation of endocardial excursion and myocardial thickening from the echocardiogram videos." [PMID:36700970] +is_a: HP:0033118 ! Abnormal right ventricular function +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8998 + +[Term] +id: HP:6000665 +name: Right ventricular regional akinesia +def: "A region of the right ventricle exhibits absent contraction (akinesia) compared to the rest of the ventricle." [PMID:20172912] +comment: This finding can be observed in arrhythmogenic right ventricular cardiomyopathy and other diseases. +is_a: HP:0033118 ! Abnormal right ventricular function +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8998 + +[Term] +id: HP:6000666 +name: Right ventricular regional dyskinesia +def: "A region of the right ventricle exhibits abnormal contraction (dyskinesia) compared to the rest of the ventricle, leading to outward bulging or ballooning during contraction or inadequate inward movement." [PMID:20172912] +is_a: HP:0033118 ! Abnormal right ventricular function +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8998 + +[Term] +id: HP:6000667 +name: Right ventricular aneurysm +def: "A localized, abnormal dilation or bulging of a portion of the right ventricular wall." [PMID:34256889] +comment: Right ventricular aneurysm can be observed following myocardial infarction, trauma, or infections and with certain congenital heart defects. +synonym: "Right ventricular outpouching" EXACT [] +is_a: HP:0001707 ! Abnormal right ventricle morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8999 + +[Term] +id: HP:6000668 +name: Glomerular immune-complex deposition +def: "Accumulation of immune deposits, containing immunoglobulins, complement, and other proteins, at various intraglomerular locations. This can lead to glomerulonephritis, with the type of injury that results being dependent on four factors: the mechanism of the deposit formation, the site of deposit formation, the composition of the deposits and the amount of the deposits." [PMID:16189625] +is_a: HP:0000095 ! Abnormal renal glomerulus morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8784 + +[Term] +id: HP:6000669 +name: Glomerular PLA2R immune-complex deposition +def: "Accumulation of immune deposits, containing auto-antibodies against the podocyte antigen M-type phospholipase A2 receptor (PLA2R) in intraglomerular locations." [PMID:21323563, PMID:25997506] +comment: This feature is seen in the majority of cases of primary membranous nephropathy. +is_a: HP:0000095 ! Abnormal renal glomerulus morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8784 + +[Term] +id: HP:6000670 +name: Elevated urinary L-glycerate level +def: "The amount of L-glycerate in the urine, normalized for urine concentration, is above the upper limit of normal." [PMID:24116921] +is_a: HP:0034653 ! Monocarboxylic aciduria + +[Term] +id: HP:6000671 +name: Breast myxoma +def: "A rare, benign mesenchymal tumor of the breast characterized histologically by stellate, round, and spindle-shaped cells with vesicular nuclei and scant cytoplasm that are scattered in the myxoid stroma." [PMID:17214801] +is_a: HP:0100013 ! Neoplasm of the breast +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/9144 + +[Term] +id: HP:6000672 +name: Ovarian cystadenoma +def: "A common, benign ovarian tumor that carries a good prognosis. The two most frequent types of cystadenomas are serous and mucinous cystadenomas whereas endometrioid and clear cell cystadenomas are rare." [PMID:30725635] +is_a: HP:0100615 ! Ovarian neoplasm +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/9148 + +[Term] +id: HP:6000673 +name: Abnormal CSF N-acetylaspartic acid concentration +def: "Any deviation from the normal concentration of N-acetylaspartic acid in the cerebrospinal fluid (CSF)." [] +comment: Butanone, also known as aethylmethylketon or methyl acetone, belongs to the class of organic compounds known as ketones. +synonym: "Elevated urine 2-betanone level" EXACT [] +is_a: HP:0025454 ! Abnormal CSF metabolite concentration +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8637 + +[Term] +id: HP:6000674 +name: Decreased CSF N-acetylaspartic acid concentration +def: "Concentration of N-acetylaspartic acid in the cerebrospinal fluid below the lower limit of normal." [] +synonym: "Decreased CSF N-acetylaspartate acid concentration" EXACT [] +synonym: "N-acetylaspartate absent in CSF" EXACT [] +is_a: HP:0025454 ! Abnormal CSF metabolite concentration +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8637 + +[Term] +id: HP:6000675 +name: Elevated urinary mevalonate lactone level +def: "The amount of mevalonate lactone in the urine, normalized for urine concentration, is above the upper limit of normal." [PMID:29909962] +comment: This finding has been observed in squalene synthase deficiency. +is_a: HP:0033354 ! Abnormal urine metabolite level +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8638 + +[Term] +id: HP:6000676 +name: Anti-von Willebrand factor antibody positivity +def: "The presence of autoantibodies in the serum that react to von Willebrand factor (VWF)." [PMID:23297130] +comment: This feature is usually seen in the context of Von Willebrand disease (VWD), the most common inherited bleeding disorder. VWD is caused by deficiency or dysfunction of the multimeric glycoprotein, von Willebrand factor (VWF), and is clinically characterized by excessive mucocutaneous bleeding as well as musculoskeletal bleeding in type 3 VWD, the most severe form. Treatment options include infusion of concentrates of VWF, which in some patients leads to the production of alloantikbodies. +is_a: HP:0030057 ! Autoimmune antibody positivity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8723 + +[Term] +id: HP:6000677 +name: Elevated natural killer cell count +def: "The count of natural killer cells per volume of blood is above the upper limit of normal." [] +is_a: HP:0040089 ! Abnormal natural killer cell count +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8745 + +[Term] +id: HP:6000678 +name: Myositis-specific autoantibody positivity +def: "The presence of autoantibodies (immunoglobulins) in the serum that display a high degree of specificity for idiopathic inflammatory myopathy (myositis-specific autoantibodies (MSAs)). MSAs are clinically useful biomarkers to help the diagnosis of polymyositis/dermatomyositis (PM/DM). Many of these are also associated with a unique clinical subset of PM/DM, making them useful in predicting and monitoring certain clinical manifestations." [PMID:26424665] +is_a: HP:0030057 ! Autoimmune antibody positivity +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8750 + +[Term] +id: HP:6000679 +name: Abnormal serum osmolality +def: "Any deviation from the normal range of the serum osmolality, defined as the sum of the osmolalities of every single dissolved particle in the blood such as sodium and associated anions, potassium, glucose, and urea." [PMID:35779183] +is_a: HP:0011032 ! Abnormality of fluid regulation +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/9930 + +[Term] +id: HP:6000680 +name: Low serum osmolality +def: "Serum osmolality, which is defined as the sum of the osmolalities of every single dissolved particle in the blood such as sodium and associated anions, potassium, glucose, and urea, is below the lower limit of normal." [PMID:35779183] +is_a: HP:6000679 ! Abnormal serum osmolality +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/9930 + +[Term] +id: HP:6000681 +name: High serum osmolality +def: "Serum osmolality, which is defined as the sum of the osmolalities of every single dissolved particle in the blood such as sodium and associated anions, potassium, glucose, and urea, is above the upper limit of normal." [PMID:35779183] +is_a: HP:6000679 ! Abnormal serum osmolality +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/9930 + +[Term] +id: HP:6000682 +name: History of compressive dressings +def: "A past medical history of having been treated with tight bandages, compression sleeve, tight casts or splints, immobilizers, or similar items such as overly tight clothes, watch bands, or handcuffs." [] +is_a: HP:0032443 ! Past medical history +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/9931 + +[Term] +id: HP:6000683 +name: Triggered by overhead motions +def: "Applies to a sign or symptom that is induced by repeatedly performing overhead motions, such as painting a ceiling or working on objects located above the head, or some types of athletics." [PMID:23040553] +comment: This trigger can apply to rotator cuff syndrome. +synonym: "Triggered by overhead activity" EXACT [] +is_a: HP:0025204 ! Triggered by +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/9932 + +[Term] +id: HP:6000684 +name: Radiating pain +def: "Pain that is perceived to extend or spread out from one area of the body to another." [] +is_a: HP:0025280 ! Pain characteristic +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/9933 + +[Term] +id: HP:6000685 +name: Mitral opening snap +def: "Opening snap is an additional sound heard in the diastole that is related to the opening of a stenotic but mobile mitral valve. It is described as an early diastolic, high-pitched sound, which is associated with opening of the mitral and/or tricuspid valve." [PMID:17448551] +is_a: HP:0031657 ! Abnormal heart sound +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/9935 + +[Term] +id: HP:6000686 +name: Mucus in stool +def: "Abnormally increased amount of mucus in the feces. Mucus is a slippery aqueous secretion produced by mucous membranes including those of the intestines." [] +is_a: HP:0031685 ! Abnormal stool composition +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/9946 + +[Term] +id: HP:6000687 +name: Elevated circulating CCL3 concentration +def: "The concentration of C-C Motif Ligand 3 (CCL3) in the blood circulation is above the upper limit of normal." [] +is_a: HP:6000446 ! Abnormal circulating CC chemokine concentration +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8440 + +[Term] +id: HP:6000688 +name: Elevated circulating CCL4 concentration +def: "The concentration of C-C Motif Ligand 4 (CCL4) in the blood circulation is above the upper limit of normal." [] +is_a: HP:6000446 ! Abnormal circulating CC chemokine concentration +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8441 + +[Term] +id: HP:6000689 +name: Elevated CSF 14-3-3 protein concentration +def: "The concentration of 14-3-3 protein in the cerebrospinal fluid (CSF) is above the upper limit of normal." [PMID:22993290] +is_a: HP:6000205 ! Elevated CSF myelin basic protein concentration +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8474 + +[Term] +id: HP:6000690 +name: Elevated CSF dihydrobiopterin concentration +def: "Concentration of dihydrobiopterin in the cerebrospinal fluid (CSF) above the upper limit of normal." [] +is_a: HP:0040207 ! Abnormal CSF biopterin concentration +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 +property_value: IAO:0000233 https://github.com/obophenotype/human-phenotype-ontology/issues/8475 + +[Term] +id: HP:6000691 +name: Left atrial fibrosis +def: "Atrial fibrosis is an hallmark of atrial structural remodelling, characterized by the aberrant activation, proliferation and differentiation of fibroblasts, and subsequent excessive synthesis and irregular deposition of extracellular matrix proteins." [PMID:28882227, PMID:33448312] +comment: Atrial fibrillation (AF) is one of the most common tachyarrhythmias observed in the clinic and is characterized by structural and electrical remodelling. Atrial fibrosis, an emblem of atrial structural remodelling, is a complex multifactorial and patient-specific process involved in the occurrence and maintenance of AF. +is_a: HP:0025579 ! Abnormal left atrium morphology +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 + +[Term] +id: HP:6000692 +name: Abnormal circulating atrial natriuretic peptide pro-hormone concentration +def: "The concentration in the blood circulation of atrial natriuretic peptide pro-hormone or one of its processed fragments is outside of the range of normal." [] +is_a: HP:0010876 ! Abnormal circulating protein concentration +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 + +[Term] +id: HP:6000693 +name: Reduced circulating NT-proANP concentration +def: "The concentration of NT-proANP in the blood circulation is below the lower limit of normal." [] +comment: The 126-amino acid peptide atrial natriuretic peptide pro-hormone (proANP1-126) is synthesized and stored in atrial myocytes. Upon distension of the cardiac atria, proANP(residues 1-126) is cleaved and equimolar amounts of the C-terminal fragment proANP(99-126) (ANP) and an N-terminal fragment (proANP(1-98) are secreted from the atria. The N-terminal fragment is subsequently cleaved into smaller peptide fragments, which have natriuretic, diuretic, blood pressure-lowering and kaliuretic properties. ANP is a potent mediator of natriuresis and vasodilatation. Whereas ANP is rapidly removed from the circulation [10], the N-terminal fragments, such as the proANP(1-30) fragment (Nt-proANP), which is also termed long-acting natriuretic peptide and has strong salt-excreting properties itself, are stable and remain in the circulation at manifold higher concentrations than ANP. Nt-proANP measured in peripheral plasma is therefore less prone to fluctuation and may thus be a more reliable measure of atrial ANP secretion than peripheral plasma concentration of ANP itself. +synonym: "Reduced long-acting natriuretic peptide concentration" EXACT [] +is_a: HP:0010876 ! Abnormal circulating protein concentration +property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 + [Typedef] id: inheres_in name: inheres in diff --git a/patterns/definitions.owl b/patterns/definitions.owl index bbad2abae..da0bad601 100644 --- a/patterns/definitions.owl +++ b/patterns/definitions.owl @@ -7,8 +7,8 @@ Prefix(rdfs:=) Ontology( - -Annotation(owl:versionInfo "2024-03-06") + +Annotation(owl:versionInfo "2024-04-03") diff --git a/src/ontology/reports/autoimmune-antibody-report.tsv b/src/ontology/reports/autoimmune-antibody-report.tsv index 067695bfa..a7764a282 100644 --- a/src/ontology/reports/autoimmune-antibody-report.tsv +++ b/src/ontology/reports/autoimmune-antibody-report.tsv @@ -6,7 +6,7 @@ "Anti-ribosome Po antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ribosome Po." "PMID:14645862|PMID:25815344" "Anti-SOX1 antibody" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SOX1. Anti-SOX1 antibodies, also known as antiglial nuclear antibody (AGNA), are specifically found in paraneoplastic neurological disorders. Since SOX1 is expressed in neuronal precursor cells in the developing central nervous system, it has been used as an early marker of neural stem cells." "PMID:19667272|PMID:32103919" "Anti-Sry-like high mobility group box (SOX) 1 antibody" "Anti-myelin oligodendrocyte glycoprotein antibody positivity" "Presence of antibodies in the serum that react against myelin oligodendrocyte glycoprotein." "PMID:28533781" "Anti-MOG antibody positivity" - "Anti-glutamic acid decarboxylase antibody positivity"@en "The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase." "PMID:27356651" "Anti-GAD antibody positivity" + "Anti-glutamic acid decarboxylase antibody positivity" "The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase." "PMID:27356651" "Anti-GAD antibody positivity" "Anti-centromere antibody positivity" "The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components." "PMID:17444587|PMID:31858335" "Anticentromere antibody positivity|ACA positivity" "Anti-thyroglobulin antibody positivity" "The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin." "PMID:21196203|PMID:33144894|PMID:33999913|PMID:34634575" "TgAbs|Anti-thyroid globulin antibody positivity" "Anti-CARP VIII antibody" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Carbonic anhydrase-related protein VIII (CARPVIII)." "PMID:23568983|PMID:26377085" "Anti-carbonic anhydrase-related protein VIII antibody|Anti CARPVIII antibody" @@ -22,23 +22,29 @@ "Anti-GM2 antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM2." "PMID:31522790" "Anti-Ma1 antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma1." "PMID:15179063|PMID:27460184" "Anti-BP230 antibody positivity" "The presence of autoantibodies (immunoglobulins) in the serum that react against BP230." "PMID:32048350" + "Anti-von Willebrand factor antibody positivity" "The presence of autoantibodies in the serum that react to von Willebrand factor (VWF)." "PMID:23297130" "Antigliadin antibody positivity" "The presence of autoantibodies (immunoglobulins) in the serum that react against gliadin." "PMID:24052912" "AGA autoantibodies" + "Anti-factor V antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against factor V." "PMID:33505468" "Anti-FV antibody positivity" "Anti-GQ1b IgM antibody positivity" "The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b." "PMID:24829594" "Anti-Amphiphysin antibody" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Amphiphysin." "PMID:20420178|PMID:27773907|PMID:31624089|PMID:32087460|PMID:33173498" "Perinuclear antineutrophil antibody positivity" "The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils." "PMID:24854381|PMID:27481040|PMID:28661185" "p-ANCA positivity" "Anti-soluble liver antigen/liver pancreas antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against soluble liver antigen." "PMID:19302185" "Anti-SLA/LP" "Anti-TRIM9/TRIM67 antibody" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against TRIM9/TRIM67." "PMID:30350014" "Anti-contactin-1 antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CNTN1." "PMID:32266541|PMID:34675937" "Anti-CNTN1 antibody positivity" + "Anti-factor X antibody positivity" "The presence of an antibody in the blood circulation that is directed against factor X." "PMID:24074948" "Anti-FX antibody positivity" "Anti-H2A-H2B antibody positivity" "The presence of autoantibodies in the blood circulation that react against the H2A-H2B histone dimer." "PMID:7986226" "Anti-thyroid-stimulating hormone receptor antibody positivity" "The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid-stimulating hormone." "PMID:10874533|PMID:26293122|PMID:3018097|PMID:30224035|PMID:32459722" "TRAbs|Anti-thyrotropin receptor antibody|Anti-TSH receptor antibody positivity" + "Anti-lamin A antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against lamin A." "PMID:1959878|PMID:2271902" "Prelamin A antibody positivity|LMNA antibody positivity|PCNA antibody positivity|ki-67 antibody positivity" "Anti-phosphatidyl serine antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl serine." "PMID:26563139" "Anti-NMDA receptor antibody positivity" "The presence of autoantibodies (immunoglobulins) in the serum that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor." "PMID:24729779" "Presence of anti-NMDAR antibody in blood|Presence of anti-N-methyl-D-aspartate Receptor antibody in blood" "Anti-beta 2 glycoprotein I antibody positivity" "Presence of antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome (APS)." "PMID:28105326" "Anti-B2GPI positivity" + "Anti-factor H antibody positivity" "The presence of an antibody in the blood circulation that is directed against factor H." "PMID:21051740|PMID:30989342" "Anti-FH antibody positivity" "Anticardiolipin IgM antibody positivity" "The presence of circulating IgM autoantibodies to cardiolipin." "PMID:30256771" "Anti-GAD65 antibody" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamic acid decarboxylase 65 (GAD65)." "PMID:30343467|PMID:32087461|PMID:32123047" "Anti-glutamic acid decarboxylase 65 antibody" "Anti-LABD97 antibody positivity" "The presence of autoantibodies (immunoglobulins) in the serum that react against LABD97, which is structurally identical to a portion of the extracellular domain of BPAg2. BPAg2, a 180 kDa bullous pemphigoid antigen, is a transmembrane protein important for basement membrane cohesion." "PMID:11180014" "Anti-phospholipase A2 receptor antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the phospholipase A2 receptor." "PMID:34169209|PMID:34277215" "Anti-PLA2R antibody positivity" "Anti-phenylalanyl tRNA synthetase antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phenylalanyl tRNA synthetase." "PMID:31665469" "Phenylanyl-t-RNA synthetase alpha antibody positivity|Anti-Zo antibody positivity|Anti-Zo alpha antibody positivity" + "Anti-lamin C antibody positivity" "The presence of autoantibodies in the blood circulation that react against human lamin C." "PMID:1290474|PMID:1959878" "Prelamin C antibody positivity" "Anti-desmocollin antibody positivity" "The presence of autoantibodies (immunoglobulins) in the serum that react against desmocollin." "PMID:34567003" "Anti-U3 RNP antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U3 RNP." "PMID:34207757" "Anti-fibrillarin antibody positivity" "Antiparietal cell antibody positivity" "The presence of autoantibodies (immunoglobulins) in the serum that react against parietal cell antigens." "PMID:34913949" @@ -52,7 +58,8 @@ "Anti-La/SS-B antibody positivity" "The presence of autoantibodies in the blood circulation that react against La/SSB autoantigens." "PMID:15804706|PMID:27431345" "Anti-AK5 antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-adenylate kinase 5 (AK5)." "PMID:28062719|PMID:33843981" "Anti-phosphatidyl glycerol antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl glycerol." "PMID:26563139" - "Lupus anticoagulant"@en "Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces." "PMID:27331311" + "Lupus anticoagulant" "Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces." "PMID:27331311" + "Anti-factor VII antibody positivity" "The presence of autoantibodies (immunoglobulins) in the serum that react against factor VII." "PMID:26962982" "Anti-FVII antibody positivity" "Anti-tyrosine phosphatase region of islet antigen-2 antibody positivity" "The presence of autoantibodies (immunoglobulins) in the serum that react against the tyrosine phossphatase region of islet antigen 2A (this region is a specific part of IA-2). Usually IA-2A are measured using the intracellular portion of IA-2 (IA-2ic) made up of the protein tyrosine phosphatase (PTP) and juxtamembrane (JM) regions." "PMID:22966073" "Anti-PTPA antibody positivity" "Anti-endothelin-1 type A receptor antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endothelin-1 type A receptor." "PMID:28749191" "Anti-ETAR antibody positivity" "Anti-salivary protein antibody positivity" "The presence of autoantibodies (immunoglobulins) in the serum that react against salivary protein." "PMID:34249010" "Anti-SP1 antibody positivity" @@ -62,9 +69,10 @@ "Anti-angiotensin receptor type-1 antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin receptor type-1." "PMID:28749191" "Anti-AT1R antibody positivity" "Anti-D2 R antibody" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dopamine-2 receptor." "PMID:27299786|PMID:32612568" "Anti-dopamine-2 receptors (D2R) antibody" "Anti-Kelch like protein 12 antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Kelch like protein 12." "PMID:29554146" "Anti-KLHL-12 antibody positivity" - "Anti-voltage-gated potassium channel antibody positivity"@en "The presence of autoantibodies (immunoglobulins) in the serum that react against a voltage-gated potassium channel." "PMID:20816272" "Voltage gated potassium channel antibodies in blood" + "Anti-voltage-gated potassium channel antibody positivity" "The presence of autoantibodies (immunoglobulins) in the serum that react against a voltage-gated potassium channel." "PMID:20816272" "Voltage gated potassium channel antibodies in blood" "Anti-MDA5 antibody positivity" "The presence of autoantibodies in the serum that react to Anti-MDA5 (Anti-melanoma differentiation-associated proteine 5)." "PMID:32270621" "Increased level of anti-melanoma differentiation-associated protein 5 antibodies" "Anti-neurofascin 186 antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF186." "PMID:32266541|PMID:33723708" "Anti-NF186 antibody positivity" + "Anti-annexin A5 antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against annexin A5." "PMID:15652780|PMID:9067499" "Anti-bicaudal D2 antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against bicaudal D2." "PMID:29369808" "Anti-BICD2 antibody positivity" "Anti-plasminogen binding peptide antibody positivity" "The presence of autoantibodies (immunoglobulins) in the serum that react against plasminogen binding peptide." "PMID:30075546" "Anti-PBP antibody positivity" "Anti-Sj/ITPR1 antibody" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Sj/inositol 1,4,5-trisphosphate receptor." "PMID:23568983|PMID:26377085" "Anti-Sj/inositol 1,4,5-trisphosphate receptor antibody" @@ -89,8 +97,10 @@ "Anti-neurofascin-155 antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF155." "PMID:32266541|PMID:34728497" "Anti-NF155 antibody positivity" "Anti-GW182 antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GW182." "PMID:14598044|PMID:29554146" "Anti-sphingolipid antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against sphingolipids." "PMID:31354742" + "Anti-human ferritin peptide antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the human ferritin peptide." "PMID:22228484|PMID:36344353" "Anti-Yo antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Yo." "PMID:10980743|PMID:27606347" "Anti-Purkinje cell cytoplasmic antibody 1" "Anti-FGFR3 antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against FGFR3." "PMID:33563795|PMID:33588772" "Anti-fibroblast growth factor receptor 3 antibody" + "Anti-factor IX antibody positivity" "The presence of autoantibodies (immunoglobulins) in the serum that react against factor IX." "PMID:27501440|PMID:28594432" "Anti-FIX antibody positivity" "Anti-enterocyte antibody positivity" "The presence of autoantibodies (immunoglobulins) in the serum that react against enterocytes." "PMID:24051695|PMID:33744411" "AEA" "Anti-nuclear matrix protein-2 antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NXP-2." "PMID:33343724" "Anti-NXP-2 antibody positivity|Anti-MJ/NXP-2 antibody positivity" "Antilactoferrin antibody positivity" "The presence of autoantibodies (immunoglobulins) in the serum that react against lactoferrin." "PMID:16932997" @@ -105,7 +115,7 @@ "Anti-transcription intermediary factor-1gamma antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transcription intermediary factor-1gamma." "PMID:33876712" "Anti-TIF1-gamma antibody positivity|Anti-TIF-1gamma antibody positivity" "Anti-signal recognition particle antibody positivity" "The presence of autoantibodies (immunoglobulins) in the serum that react against anti-signal recognition particle." "PMID:29582188|PMID:30639649|PMID:33093664" "Anti-SRP antibody positivity" "Anti-GD1a IgM antibody positivity" "The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a." "PMID:31522790" - "Anti-thyroid peroxidase antibody positivity"@en "The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase." "PMID:33144894|PMID:33796145" "Anti-TPO antibody positivity|Antimicrosomal antibody positivity|Antimicrosomal antibodies|TPOAbs" + "Anti-thyroid peroxidase antibody positivity" "The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase." "PMID:33144894|PMID:33796145" "Anti-TPO antibody positivity|Antimicrosomal antibody positivity|Antimicrosomal antibodies|TPOAbs" "Anti-GM1 IgG antibody positivity" "The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against GM1." "PMID:32460711" "Anti-Ma antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma." "PMID:27460184|PMID:33070888" "Anti-ADAMTS13 antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against A Disintegrin and Metalloprotease with ThromboSpondin type 1 repeats, member 13 (ADAMTS13)." "PMID:28416507|PMID:31107120|PMID:33540569" @@ -118,10 +128,10 @@ "Anti-Gerbich phenotype 1 antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ge-1." "PMID:29554146" "Anti-Ge-1 antibody positivity" "Anti-histidyl tRNA synthetase antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against histidyl tRNA synthetase." "PMID:15804708|PMID:26210509" "Anti-Jo-1 antibody positivity|Anti-JO1 antibody positivity" "Anti-aminoacyl-tRNA synthetase antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a tRNA synthetase enzyme." "PMID:23573256" - "Anti-pituitary antibody positivity"@en "Circulating antipituitary antibodies (APA) are markers of autoimmune hypophysitis, which may cause deficient pituitary function." "PMID:17341554" + "Anti-pituitary antibody positivity" "Circulating antipituitary antibodies (APA) are markers of autoimmune hypophysitis, which may cause deficient pituitary function." "PMID:17341554" "Anti-annexin-V antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against annexin-V." "PMID:33464429" "Anti-centromere protein A antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CENP-A." "PMID:30316987" "Anti-CENP-A antibody positivity" - "Anti-myelin-associated glycoprotein antibody positivity"@en "The presence of autoantibodies (immunoglobulins) in the serum that react against myelin-associated glycoprotein (MAG)." "PMID:16969155" + "Anti-myelin-associated glycoprotein antibody positivity" "The presence of autoantibodies (immunoglobulins) in the serum that react against myelin-associated glycoprotein (MAG)." "PMID:16969155" "Anti-topoisomerase I antibody positivity" "The presence of autoantibodies (immunoglobulins) in the serum that react against topoisomerase I." "PMID:16112028|PMID:31858335" "Topoisomerase (DNA) I antibody positivity|Top1 antibody positivity|Anti-Scl-70 antibody positivity" "Anti-Kelch like protein 11 antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against kelch-like protein 11 (KLHL11)." "PMID:31269365" "Anti-KLHL11 antibody" "Anti-intrinsic factor antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against intrinsic factor." "PMID:34913949" @@ -135,18 +145,21 @@ "Anti-epidermal transglutaminase antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against epidermal transglutaminase." "PMID:18503599" "Anti-keratinocyte transglutaminase|Anti-TG3 antibody|Anti-eTG antibody positivity|Anti-epidermal transglutaminase (anti-eTG) antibody" "Anti-Hu antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Hu." "PMID:11344832|PMID:18931014|PMID:19015226|PMID:25764259|PMID:32851899" "Anti-Neuronal Nuclear Antibody type-1 antibody|Anti-ANNA-1 antibody" "Anti-threonyl-tRNA synthetase antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against threonyl-tRNA synthetase." "PMID:22732951|PMID:33343724" "Anti-PL-7 antibody positivity" + "Anti-prothrombin antibody positivity" "The presence of autoantibodies (immunoglobulins) in the serum that react against prothrombin." "PMID:3116540" "Anti-FII antibody positivity" "C4 nephritic factor positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that recognize C4b2a, the C3 convertase of the classical pathway of complement." "PMID:23117396|PMID:27146825|PMID:28838767" "Anti-Ku antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ku." "PMID:28749191" "Anti-MAP1B antibody" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against microtubule-associated protein 1B (MAP1B)." "PMID:28074593|PMID:31801846" "Anti-microtubule-associated protein 1B antibody|Anti-Purkinje cell cytoplasmic type-2 antibody" "Anti-Lrp4 antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against low-density lipoprotein receptor (Lrp4)." "PMID:32830177" "Anti-low-density lipoprotein receptor-related protein 4 antibody" "Anti-histone antibody positivity" "The presence of autoantibodies in the blood circulation that react against histone antigens." "PMID:15096389" - "Anti-multiple nuclear dots antibody positivity"@en "A type of antinuclear antibody (ANA) positivity revealed by indirect immunofluorescence (IFL). The multiple nuclear dots (MND) pattern is immunomorphologically characterized by the staining of 3-20 dots of variable size distributed all over the cell nucleus, but sparing the nucleoli, and, in contrast to the anticentromere pattern, MND reactivity does not stain the chromosomes in mitotic cells." "PMID:11882049|PMID:12848948" "Anti-MND antibodies" + "Anti-multiple nuclear dots antibody positivity" "A type of antinuclear antibody (ANA) positivity revealed by indirect immunofluorescence (IFL). The multiple nuclear dots (MND) pattern is immunomorphologically characterized by the staining of 3-20 dots of variable size distributed all over the cell nucleus, but sparing the nucleoli, and, in contrast to the anticentromere pattern, MND reactivity does not stain the chromosomes in mitotic cells." "PMID:11882049|PMID:12848948" "Anti-MND antibodies" "Anti-endomysial antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endomysial tissue transglutaminase 2 (tTG2)." "PMID:9518950" "Anti-transglutaminase 2 antibody positivity" + "Anti-vinculin antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against vinculin." "PMID:33411141|PMID:35876914" "Anti-complement component C1q antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against C1q." "PMID:25815344" "Anti-C1q antibody positivity" "Anti-GT1a IgM antibody positivity" "The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside." "PMID:24829594" "Anti-mGluR1 antibody" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 1 (mGluR1)." "PMID:26377085" "Anti-metabotropic glutamate receptor 1 antibody" "Anti-PKCgamma antibody" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against protein kinase Cgamma." "PMID:16801349" "Anti-Protein kinase C gamma antibody" "Anti-PM-Scl100 antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl100." "PMID:28749191" + "Anti-factor VIII antibody positivity" "The presence of autoantibodies (immunoglobulins) in the serum that react against factor VIII." "PMID:3116540" "Anti-FVIII antibody positivity" "Anti-Kv1.4 antibody" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the voltage-gated potassium channel Kv1.4." "PMID:22167224|PMID:30918333" "Anti-Y-box protein-1 antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Y-box protein-1." "PMID:29554146" "Anti-YB 1 antibody positivity" "Anti-laminin gamma1 antibody positivity" "The presence of autoantibodies (immunoglobulins) in the serum that react against laminin gamma-1." "PMID:24154702" @@ -168,6 +181,7 @@ "Anti-GM3 antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM3." "PMID:34174799" "Anti-SUMO-activating enzyme subunit 1 antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 1." "PMID:22884621" "Anti-type VII collagen antibody" "The presence of autoantibodies (immunoglobulins) in the serum that react against collagen type VII." "PMID:29619029" + "Anti-factor XIII antibody positivity" "The presence of an antibody in the blood circulation that is directed against factor XIII." "PMID:29460500|PMID:32759568" "Anti-FXIII antibody positivity" "Anti-Ki antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ki." "PMID:24557777" "Anti-SUMO-activating enzyme subunit 2 antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 2." "PMID:22884621" "Anti-SAE 2 antibody positivity" "Anti-phosphatidyl inositol antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl inositol." "PMID:31354742" @@ -187,10 +201,11 @@ "Anti-tyrosyl-tRNA synthetase antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against tyrosyl-tRNA synthetase." "PMID:32933078" "Anti-Ha antibody positivity" "Anti-U11/U12 RNP antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U11/U12 RNP." "PMID:19565553" "Anti-angiotensin-converting enzyme 2 antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin-converting enzyme 2." "PMID:33910447" "Anti-ACE2 antibody positivity" + "Anti-factor XI antibody positivity" "The presence of an antibody in the blood circulation that is directed against factor XI." "PMID:18519152" "Anti-FXI antibody positivity" "Anti-asialoglycoprotein receptor antibody positivity" "Presence of autoantibodies against the asialoglycoprotein receptor (ASGPR) in the blood circulation." "PMID:26000135" "Anti-neurexin-3alpha antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neurexin-3alpha." "PMID:27170572|PMID:27170573|PMID:28840178" "Anti-neurexin-3alpha antibody" "Anti-thrombospondin type I domain-containing 7A antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against thrombospondin type I domain-containing 7A." "PMID:35564696" "Anti-THSD7A antibody present in blood|Anti-THSD7A antibody" - "Anti-myeloperoxidase antibody positivity" "The presence of autoantibodies in the blood circulation that react against myeloperoxidase." "PMID:30767872" "Anti-MPO antibody positivity" + "Anti-myeloperoxidase antibody positivity" "The presence of autoantibodies in the blood circulation that react against myeloperoxidase." "PMID:30767872" "Anti-MPO antibody positivity|Anti-myeloperoxidase specific antineutrophil cytoplasmic antibody|MPO-ANCA" "Anti-RNA-polymerase-III-autoantibody positivity" "The presence of autoantibodies in the serum that react to RNA-polymerase III." "PMID:31858335" "Anti-Tr/DNER antibody" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Tr/DNER. Anti-Tr antibodies are directed against cerebellar Purkinje cells (termed anti-Tr or PCA-Tr). Anti-Tr autoantibodies are frequently associated with Hodgkin lymphoma (HL). Anti-Tr antibodies are defined by a specific staining pattern in cerebellar tissue that is characterized by punctate immunoreactivity in both the dendritic tree and soma of Purkinje cells but not in their axons. This characteristic pattern is indicative of the presence of anti-Tr antibodies. The Delta/Notch-like epidermal growth factor-related receptor (DNER) was identified as the target antigen of anti-Tr." "PMID:15179063|PMID:25745634|PMID:26377319" "PCA-Tr|Anti-delta/notch-like epidermal growth factor-related receptor antibody" "Anti-hexokinase-1 antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against hexokinase-1." "PMID:29554146" "Anti-HK-1 antibody positivity" @@ -199,13 +214,14 @@ "Anti-centromere protein B antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CENP-B." "PMID:30316987" "Anti-CENP-B antibody positivity" "Anti-cyclic citrullinated peptide antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cyclic citrullinated peptide." "PMID:30316987" "Anti-CCP antibody positivity" "Anti-HLA antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen (HLA)." "PMID:29985463" "Anti-human leukocyte antigen antibody positivity" - "Warm reactive autoantibody positivity"@en "Warm reactive autoantibodies are RBC-directed immune responses that are maximally reactive at 37 degrees C." "PMID:15491963" + "Warm reactive autoantibody positivity" "Warm reactive autoantibodies are RBC-directed immune responses that are maximally reactive at 37 degrees C." "PMID:15491963" "Anti-mitochondrial M2 antibody positivity" "The presence of M2 anti-mitochondrial antibody (immunoglobulins) in the serum." "PMID:30579751" "AMA-M2 positive" "Insulin receptor antibody positivity" "The presence of autoantibodies (immunoglobulins) in the serum that react against the insulin receptor." "PMID:3280181" "Anti-GM1 antibody positivity" "Ganglioside-monosialic acid (GM1) is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury" "PMID:32460711" "Anti-ganglioside-monosialic acid antibody positivity" "Anti-P/Q-type VGCC antibody positivity" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against P/Q-type voltage-gated calcium channels (VGCCs)." "PMID:18295972|PMID:18653248|PMID:21115345" "Anti-P/Q-type voltage-gated calcium-channel antibody" "Anti-ITPR1 antibody" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against inositol 1,4,5-trisphosphate receptor 1 (ITPR1)." "PMID:28203616" "Anti-inositol 1,4,5-trisphosphate receptor type 1 antibody" "Anti-integrin antibody positivity" "The presence of autoantibodies (immunoglobulins) in the serum that react against an integrin. Integrins are a family of cell adhesion molecules with 24 known integrin heterodimers. Integrins transduce mechanical and biochemical signals from fibrotic extracellular matrix into the cell, activate latent TGFbeta, and subsequently modulate fibroblast adhesion, migration, and growth." "PMID:33483531" + "Myositis-specific autoantibody positivity" "The presence of autoantibodies (immunoglobulins) in the serum that display a high degree of specificity for idiopathic inflammatory myopathy (myositis-specific autoantibodies (MSAs)). MSAs are clinically useful biomarkers to help the diagnosis of polymyositis/dermatomyositis (PM/DM). Many of these are also associated with a unique clinical subset of PM/DM, making them useful in predicting and monitoring certain clinical manifestations." "PMID:26424665" "Anti-21-hydroxylase antibody positivity" "The presence of autoantibodies (immunoglobulins) in the serum that react against 21-hydroxylase." "PMID:22707647|PMID:9030872" "Anti-P450c21" "Anti-beta-2-Glycoprotein I IgM antibody positivity" "Presence of IgM antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome." "PMID:33957795|PMID:34218350" "Anti-beta2GPI IgM antibody positivity" "Anti-Homer-3 antibody" "The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Homer-3." "PMID:26377085" "Anti-Homer protein homolog 3 antibody" diff --git a/src/ontology/reports/hp-attribution-report.tsv b/src/ontology/reports/hp-attribution-report.tsv index 269e8a0aa..55fbf9264 100644 --- a/src/ontology/reports/hp-attribution-report.tsv +++ b/src/ontology/reports/hp-attribution-report.tsv @@ -18,7 +18,7 @@ "CREATOR" 65 "XREF" 1 "XREF" 1 - "CREATOR" 10 + "CREATOR" 12 "CREATOR" 19 "HPO_CONTRIBUTOR:NSTRN_jmiller" "XREF" 1 "XREF" 1 @@ -38,6 +38,7 @@ "XREF" 1 "XREF" 179 "HPO_CONTRIBUTOR:jbeats" "XREF" 3 + "CREATOR" 2 "XREF" 1 "XREF" 28 "XREF" 20 @@ -71,7 +72,7 @@ "XREF" 94 "CREATOR" 1 "XREF" 10 - "CREATOR" 7746 + "CREATOR" 7749 "HPO_CONTRIBUTOR:RGD_gthayman" "XREF" 11 "CREATOR" 3 "XREF" 1 @@ -82,6 +83,7 @@ "CREATOR" 69 "CREATOR" 41 "CREATOR" 202 + "CREATOR" 4 "CREATOR" 65 "HPO_CONTRIBUTOR:jalbers" "XREF" 91 "XREF" 51 @@ -123,7 +125,7 @@ "HPO_CONTRIBUTOR:DDD_mbitner-glidicz" "XREF" 9 "XREF" 43 "HPO_CONTRIBUTOR:mengelstad" "XREF" 1 - "XREF" 443 + "XREF" 442 "XREF" 4 "XREF" 1 "CREATOR" 82 @@ -170,7 +172,7 @@ "CREATOR" 69 "HPO_CONTRIBUTOR:RGD_SJWang" "XREF" 3 "XREF" 4 - "CREATOR" 407 + "CREATOR" 406 "HPO_CONTRIBUTOR:cmiller" "XREF" 11 "XREF" 1 "XREF" 30 @@ -191,17 +193,18 @@ "XREF" 1 "XREF" 10 "XREF" 21 - "XREF" 790 - "CREATOR" 529 - "XREF" 6282 + "XREF" 787 + "CREATOR" 704 + "XREF" 6281 "CREATOR" 56 "XREF" 2 "XREF" 5 "CREATOR" 41 "HPO_CONTRIBUTOR:Eurenomics_eweuehl" "XREF" 1 + "CREATOR" 4 "XREF" 5 "XREF" 12 - "CREATOR" 2 + "CREATOR" 9 "CREATOR" 220 "XREF" 107 "CREATOR" 117 @@ -226,7 +229,7 @@ "CREATOR" 56 "XREF" 95 "CREATOR" 19 - "CREATOR" 2 + "CREATOR" 11 "XREF" 38 "HPO_CONTRIBUTOR:Eurenomics_ewuehl" "XREF" 30 "CREATOR" 65 diff --git a/src/ontology/reports/hpodiff_hp_2024-03-06_to_hp_2024-04-03.xlsx b/src/ontology/reports/hpodiff_hp_2024-03-06_to_hp_2024-04-03.xlsx new file mode 100644 index 000000000..3e99d388a Binary files /dev/null and b/src/ontology/reports/hpodiff_hp_2024-03-06_to_hp_2024-04-03.xlsx differ diff --git a/src/patterns/definitions.owl b/src/patterns/definitions.owl index cefdcfc8a..da0bad601 100644 --- a/src/patterns/definitions.owl +++ b/src/patterns/definitions.owl @@ -7,8 +7,8 @@ Prefix(rdfs:=) Ontology( - -Annotation(owl:versionInfo "2024-03-08") + +Annotation(owl:versionInfo "2024-04-03") diff --git a/src/translations/hp-all.babelon.json b/src/translations/hp-all.babelon.json index 97972098e..0035bd034 100644 --- a/src/translations/hp-all.babelon.json +++ b/src/translations/hp-all.babelon.json @@ -31609,7 +31609,7 @@ { "subject_id": "HP:0000415", "predicate_id": "rdfs:label", - "source_value": "Abnormality of the choanae", + "source_value": "Abnormal choanae morphology", "source_language": "en", "translation_value": "Afwijking van de choanae", "translation_language": "nl", @@ -31618,44 +31618,44 @@ { "subject_id": "HP:0000415", "predicate_id": "rdfs:label", - "source_value": "Abnormality of the choanae", + "source_value": "Abnormal choanae morphology", "source_language": "en", "translation_value": "Anomalie des choanes", "translation_language": "fr", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "comment": "label of HP:0000415 (Abnormality of the choanae) ; abnormality of head or neck" }, { "subject_id": "HP:0000415", "predicate_id": "rdfs:label", - "source_value": "Abnormality of the choanae", + "source_value": "Abnormal choanae morphology", "source_language": "en", "translation_value": "Abnormalita choan", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0000415", "predicate_id": "rdfs:label", - "source_value": "Abnormality of the choanae", + "source_value": "Abnormal choanae morphology", "source_language": "en", "translation_value": "Koana anormalli\u011fi", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0000415", "predicate_id": "rdfs:label", - "source_value": "Abnormality of the choanae", + "source_value": "Abnormal choanae morphology", "source_language": "en", "translation_value": "\u9f3b\u540e\u5b54\u7684\u5f02\u5e38", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0000415", "predicate_id": "rdfs:label", - "source_value": "Abnormality of the choanae", + "source_value": "Abnormal choanae morphology", "source_language": "en", "translation_value": "\u5f8c\u9f3b\u5b54\u306e\u7570\u5e38", "translation_language": "ja", @@ -31663,17 +31663,17 @@ "translation_date": "2023-07-31", "translation_confidence": 1.0, "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0000415", "predicate_id": "rdfs:label", - "source_value": "Abnormality of the choanae", + "source_value": "Abnormal choanae morphology", "source_language": "en", "translation_value": "Anomal\u00eda de las coanas", "translation_language": "es", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0000417", @@ -41255,30 +41255,30 @@ { "subject_id": "HP:0000543", "predicate_id": "IAO:0000115", - "source_value": "A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.", + "source_value": "A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.", "source_language": "en", "translation_value": "Une coloration jaune p\u00e2le du disque optique (zone de la t\u00eate du nerf optique dans la r\u00e9tine). Le disque optique a normalement une teinte ros\u00e9e avec une d\u00e9pression centrale jaun\u00e2tre.", "translation_language": "fr", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "comment": "definition of HP:0000543 (Optic disc pallor) ; abnormality of the eye" }, { "subject_id": "HP:0000543", "predicate_id": "IAO:0000115", - "source_value": "A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.", + "source_value": "A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.", "source_language": "en", "translation_value": "Bled\u011b \u017elud\u00e1 diskolorace optick\u00e9ho disku (m\u00edsto, kde nervus opticus vstupuje do retiny). Standartn\u00ed je r\u016f\u017eovkast\u00e9 zbarven\u00ed s cetr\u00e1ln\u00ed \u017elutkastou depres\u00ed", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0000543", "predicate_id": "IAO:0000115", - "source_value": "A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.", + "source_value": "A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.", "source_language": "en", "translation_value": "Optik diskin (retinadaki optik sinir ba\u015f\u0131 alan\u0131) soluk sar\u0131 bir renk almas\u0131. Optik disk normalde ortas\u0131nda sar\u0131ms\u0131 bas\u0131kl\u0131k olan pembemsi bir tona sahiptir", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0000543", @@ -50330,20 +50330,20 @@ { "subject_id": "HP:0000657", "predicate_id": "IAO:0000115", - "source_value": "Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex.", + "source_value": "Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex.", "source_language": "en", "translation_value": "Okulomotorick\u00e1 apraxie je porucha dobrovoln\u00fdch a c\u00edlen\u00fdch pohyb\u016f o\u010d\u00ed v horizont\u00e1ln\u00ed rovin\u011b a porucha v\u016fl\u00ed iniciovan\u00fdch sak\u00e1d. Zachovan\u00e9 jsou hladk\u00e9 sledovac\u00ed pohyby o\u010d\u00ed. Neschopnost pohybu okem se kompenzuje pohybem hlavy. Poru\u0161eny ale m\u016f\u017eou b\u00fdt i hladk\u00e9 sledovac\u00ed pohyby a vestibulo-okul\u00e1rn\u00ed reflex", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0000657", "predicate_id": "IAO:0000115", - "source_value": "Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex.", + "source_value": "Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex.", "source_language": "en", "translation_value": "Ok\u00fcler motor apraksi istemli, yatay, yan, yava\u015f takip hareketlerinin korundu\u011fu h\u0131zl\u0131 g\u00f6z hareketlerindeki (sal\u0131n\u0131mlar) eksikliklerdir. G\u00f6rsel olarak nesneleri takip etmedeki yetenek s\u0131kl\u0131kla kafa hareketleri ile telafi edilmektedir. D\u00fcz takipte azalma ve vestib\u00fclo-ok\u00fcler refleksin ortadan kalkmas\u0131 olabilir", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0000657", @@ -52014,20 +52014,20 @@ { "subject_id": "HP:0000683", "predicate_id": "IAO:0000115", - "source_value": "A grey discoloration of the dental enamel.", + "source_value": "A gray discoloration of the dental enamel.", "source_language": "en", "translation_value": "\u0160ed\u00e1 diskolorace zubn\u00ed skloviny", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0000683", "predicate_id": "IAO:0000115", - "source_value": "A grey discoloration of the dental enamel.", + "source_value": "A gray discoloration of the dental enamel.", "source_language": "en", "translation_value": "Di\u015f minesinin grimsi renk de\u011fi\u015fikli\u011fi", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0000683", @@ -55366,7 +55366,7 @@ { "subject_id": "HP:0000733", "predicate_id": "rdfs:label", - "source_value": "Abnormal repetitive mannerisms", + "source_value": "Motor stereotypy", "source_language": "en", "translation_value": "Stereotypie", "translation_language": "nl", @@ -55375,7 +55375,7 @@ { "subject_id": "HP:0000733", "predicate_id": "rdfs:label", - "source_value": "Abnormal repetitive mannerisms", + "source_value": "Motor stereotypy", "source_language": "en", "translation_value": "St\u00e9r\u00e9otypie", "translation_language": "fr", @@ -55385,7 +55385,7 @@ { "subject_id": "HP:0000733", "predicate_id": "rdfs:label", - "source_value": "Abnormal repetitive mannerisms", + "source_value": "Motor stereotypy", "source_language": "en", "translation_value": "St\u00e9r\u00e9otypie", "translation_language": "fr", @@ -55395,16 +55395,16 @@ { "subject_id": "HP:0000733", "predicate_id": "rdfs:label", - "source_value": "Abnormal repetitive mannerisms", + "source_value": "Motor stereotypy", "source_language": "en", "translation_value": "Motorick\u00e1 stereotypie", "translation_language": "cs", - "translation_status": "CANDIDATE" + "translation_status": "OFFICIAL" }, { "subject_id": "HP:0000733", "predicate_id": "rdfs:label", - "source_value": "Abnormal repetitive mannerisms", + "source_value": "Motor stereotypy", "source_language": "en", "translation_value": "Stereotipi", "translation_language": "tr", @@ -55413,16 +55413,16 @@ { "subject_id": "HP:0000733", "predicate_id": "rdfs:label", - "source_value": "Abnormal repetitive mannerisms", + "source_value": "Motor stereotypy", "source_language": "en", "translation_value": "\u8fd0\u52a8\u523b\u677f", "translation_language": "zh", - "translation_status": "CANDIDATE" + "translation_status": "OFFICIAL" }, { "subject_id": "HP:0000733", "predicate_id": "rdfs:label", - "source_value": "Abnormal repetitive mannerisms", + "source_value": "Motor stereotypy", "source_language": "en", "translation_value": "\u5e38\u540c\u884c\u52d5", "translation_language": "ja", @@ -55430,13 +55430,13 @@ "translation_date": "2023-07-31", "translation_confidence": 1.0, "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0000733", "predicate_id": "rdfs:label", - "source_value": "Abnormal repetitive mannerisms", + "source_value": "Motor stereotypy", "source_language": "en", "translation_value": "Comportamiento estereottipado", "translation_language": "es", @@ -88500,7 +88500,7 @@ { "subject_id": "HP:0001250", "predicate_id": "IAO:0000115", - "source_value": "A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.", + "source_value": "A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.", "source_language": "en", "translation_value": "K\u0159e\u010de (epileptick\u00e9 k\u0159e\u010de, epileptick\u00fd z\u00e1chvat) jsou p\u0159echodnou abnormalitou centr\u00e1ln\u00ed nervov\u00e9 soustavy zp\u016fsobenou anorm\u00e1ln\u00edmi v\u00fdboji mozkov\u00fdch neuron\u016f klinicky charakterizovanou kombinacemi poruch \u010dit\u00ed, ztr\u00e1ty v\u011bdom\u00ed, posti\u017een\u00ed psychick\u00fdch funkc\u00ed \u010di k\u0159e\u010dovit\u00fdch pohyb\u016f. Term\u00edn epilepsie se pou\u017e\u00edv\u00e1 k popisu chronick\u00fdch, rekurentn\u00edch z\u00e1chvat\u016f", "translation_language": "cs", @@ -88509,7 +88509,7 @@ { "subject_id": "HP:0001250", "predicate_id": "IAO:0000115", - "source_value": "A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.", + "source_value": "A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.", "source_language": "en", "translation_value": "N\u00f6betler ani, a\u015f\u0131r\u0131, hastal\u0131k d\u00fczeyindeki serebral n\u00f6ronlar\u0131n bo\u015fal\u0131m\u0131 nedeniyle olu\u015fan klinik olarak his bozuklu\u011fu, bilin\u00e7 kayb\u0131, fiziksel fonksiyon bozuklu\u011fu veya konvulzif hareketler kombinasyonu ile karakterize merkezi sinir sisteminin aralar ile ger\u00e7ekle\u015fen anormalli\u011fidir. Epilepsi terimi kronik, tekrar eden n\u00f6betleri tan\u0131mlamak i\u00e7in kullan\u0131lmaktad\u0131r", "translation_language": "tr", @@ -126237,7 +126237,7 @@ { "subject_id": "HP:0001900", "predicate_id": "rdfs:label", - "source_value": "Increased hemoglobin", + "source_value": "Increased circulating hemoglobin concentration", "source_language": "en", "translation_value": "Verhoogd hemoglobine", "translation_language": "nl", @@ -126246,44 +126246,44 @@ { "subject_id": "HP:0001900", "predicate_id": "rdfs:label", - "source_value": "Increased hemoglobin", + "source_value": "Increased circulating hemoglobin concentration", "source_language": "en", "translation_value": "H\u00e9moglobine augment\u00e9e", "translation_language": "fr", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "comment": "label of HP:0001900 (Increased hemoglobin) ; abnormality of blood and blood-forming tissues" }, { "subject_id": "HP:0001900", "predicate_id": "rdfs:label", - "source_value": "Increased hemoglobin", + "source_value": "Increased circulating hemoglobin concentration", "source_language": "en", "translation_value": "Zv\u00fd\u0161en\u00fd hemoglob\u00edn", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0001900", "predicate_id": "rdfs:label", - "source_value": "Increased hemoglobin", + "source_value": "Increased circulating hemoglobin concentration", "source_language": "en", "translation_value": "Artm\u0131\u015f hemoglobin", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0001900", "predicate_id": "rdfs:label", - "source_value": "Increased hemoglobin", + "source_value": "Increased circulating hemoglobin concentration", "source_language": "en", "translation_value": "\u8840\u7ea2\u86cb\u767d\u589e\u591a", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0001900", "predicate_id": "rdfs:label", - "source_value": "Increased hemoglobin", + "source_value": "Increased circulating hemoglobin concentration", "source_language": "en", "translation_value": "\u30d8\u30e2\u30b0\u30ed\u30d3\u30f3\u5897\u52a0", "translation_language": "ja", @@ -126291,17 +126291,17 @@ "translation_date": "2023-07-31", "translation_confidence": 1.0, "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0001900", "predicate_id": "rdfs:label", - "source_value": "Increased hemoglobin", + "source_value": "Increased circulating hemoglobin concentration", "source_language": "en", "translation_value": "Aumento de la hemoglobina", "translation_language": "es", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0001901", @@ -141409,16 +141409,16 @@ { "subject_id": "HP:0002121", "predicate_id": "IAO:0000115", - "source_value": "A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.", + "source_value": "A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.", "source_language": "en", "translation_value": "Z\u00e1chvaty typu absence se projevuj\u00ed n\u00e1hl\u00fdm zastaven\u00edm aktivity a v\u011bdom\u00ed. Absence se obvykle vyskytuj\u00ed v mlad\u0161\u00edch v\u011bkov\u00fdch skupin\u00e1ch, maj\u00ed n\u00e1hlej\u0161\u00ed za\u010d\u00e1tek a konec a obvykle se u nich projevuj\u00ed m\u00e9n\u011b komplexn\u00ed automatizmy ne\u017e u fok\u00e1ln\u00edch z\u00e1chvat\u016f s poruchou v\u011bdom\u00ed, ale toto rozli\u0161en\u00ed nen\u00ed absolutn\u00ed.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0002121", "predicate_id": "IAO:0000115", - "source_value": "A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.", + "source_value": "A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.", "source_language": "en", "translation_value": "Absans n\u00f6betleri hareket ve uyan\u0131kl\u0131\u011f\u0131n ani kesilmesi ile kendini g\u00f6sterir. Absans n\u00f6betleri gen\u00e7 ya\u015f gruplar\u0131nda meydana gelmeye e\u011fimlidir, daha erken ba\u015flang\u0131\u00e7 ve biti\u015fe sahiptir ve bozulmu\u015f uyan\u0131kl\u0131k ile olan fokal n\u00f6betlerin g\u00f6sterdi\u011finden daha az karma\u015f\u0131k fakat ayr\u0131m\u0131n\u0131n mutlak olmad\u0131\u011f\u0131 otomatizmalar sergiler", "translation_language": "tr", @@ -141496,16 +141496,16 @@ { "subject_id": "HP:0002123", "predicate_id": "IAO:0000115", - "source_value": "A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.", + "source_value": "A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.", "source_language": "en", "translation_value": "Generalizovan\u00fd myoklonick\u00fd z\u00e1chvat je typ generalizovan\u00e9ho motorick\u00e9ho z\u00e1chvatu charakterizovan\u00e9ho bilater\u00e1ln\u00ed, n\u00e1hlou, kr\u00e1tkou (100 ms) mimovoln\u00ed kontrakc\u00ed jednoho nebo v\u00edce sval\u016f nebo svalov\u00fdch skupin s r\u016fznou topografi\u00ed (axi\u00e1ln\u00ed, proxim\u00e1ln\u00ed kon\u010detiny, dist\u00e1ln\u00ed). Myoklonus je m\u00e9n\u011b pravideln\u011b se opakuj\u00edc\u00ed a m\u00e9n\u011b trval\u00fd ne\u017e klonus.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0002123", "predicate_id": "IAO:0000115", - "source_value": "A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.", + "source_value": "A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.", "source_language": "en", "translation_value": "Kas(lar) \u0131n veya de\u011fi\u015fik topografideki (aksiyal, proksimal uzuv, distal) kas gruplar\u0131n\u0131n ani, k\u0131sa (<100 ms) istemsiz tek veya \u00e7oklu kas\u0131lmas\u0131(lar\u0131) ile olan n\u00f6betler", "translation_language": "tr", @@ -148186,7 +148186,7 @@ { "subject_id": "HP:0002224", "predicate_id": "IAO:0000115", - "source_value": "The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.", + "source_value": "The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.", "source_language": "en", "translation_value": "Term\u00edn vlnit\u00e9 vlasy ozna\u010duje abnorm\u00e1ln\u00ed variantu vlas\u016f, kter\u00e9 jsou jemn\u00e9, s pevn\u011b sto\u010den\u00fdmi kade\u0159emi a \u010dasto hypopigmentovan\u00e9. Optick\u00e1 mikroskopie m\u016f\u017ee odhalit p\u0159\u00edtomnost t\u011bsn\u00fdch spir\u00e1l a z\u0159eteln\u00e9 zmen\u0161en\u00ed pr\u016fm\u011bru ve srovn\u00e1n\u00ed s norm\u00e1ln\u00edmi vlasy. Elektronov\u00e1 mikroskopie m\u016f\u017ee uk\u00e1zat ploch\u00e9, ov\u00e1ln\u00e9 vlasov\u00e9 stvoly se zmen\u0161en\u00fdm p\u0159\u00ed\u010dn\u00fdm pr\u016fm\u011brem.", "translation_language": "cs", @@ -161286,16 +161286,16 @@ { "subject_id": "HP:0002476", "predicate_id": "IAO:0000115", - "source_value": "The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant.", + "source_value": "The primitive reflexes are a group of behavioral motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant.", "source_language": "en", "translation_value": "Primitivn\u00ed reflexy jsou skupinou behavior\u00e1ln\u00edch motorick\u00fdch reakc\u00ed, kter\u00e9 se vyskytuj\u00ed v norm\u00e1ln\u00edm ran\u00e9m v\u00fdvoji, n\u00e1sledn\u011b jsou inhibov\u00e1ny, ale mohou b\u00fdt uvoln\u011bny z inhibice p\u0159i po\u0161kozen\u00ed mozku, obvykle front\u00e1ln\u00edm. Jsou tedy sou\u010d\u00e1st\u00ed \u0161ir\u0161\u00ed skupiny reflex\u016f, kter\u00e9 odr\u00e1\u017eej\u00ed uvol\u0148ovac\u00ed jevy, jako jsou p\u0159ehnan\u00e9 natahovac\u00ed reflexy a extenzorov\u00e9 plant\u00e1rn\u00ed reflexy. Zahrnuj\u00ed v\u0161ak slo\u017eit\u011bj\u0161\u00ed motorick\u00e9 reakce ne\u017e tyto jednoduch\u00e9 protahovac\u00ed reflexy a jsou \u010dasto norm\u00e1ln\u00edm rysem u novorozenc\u016f nebo kojenc\u016f.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0002476", "predicate_id": "IAO:0000115", - "source_value": "The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant.", + "source_value": "The primitive reflexes are a group of behavioral motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant.", "source_language": "en", "translation_value": "\u0130lkel refleksler, normal erken geli\u015fimde bulunan, daha sonra inhibe edilen, ancak serebral, genellikle frontal hasarla inhibisyondan sal\u0131nabilen bir grup davran\u0131\u015fsal motor tepkisidir. Bu nedenle, abart\u0131l\u0131 esnek refleksler ve ekstans\u00f6r batakl\u0131klar gibi serbest b\u0131rakma olaylar\u0131n\u0131 yans\u0131tan daha geni\u015f bir refleks grubunun par\u00e7as\u0131d\u0131rlar. Bununla birlikte, bu t\u00fcr basit esnek reflekslerden daha karma\u015f\u0131k motor yan\u0131tlar\u0131 i\u00e7erirler ve genellikle yeni do\u011fanlarda veya bebeklerde normal bir \u00f6zelliktir", "translation_language": "tr", @@ -178030,7 +178030,7 @@ { "subject_id": "HP:0002744", "predicate_id": "IAO:0000115", - "source_value": "Cleft lip and cleft palate affecting both sides of the face.", + "source_value": "Cleft lip and cleft palate affecting both sides of the face", "source_language": "en", "translation_value": "Roz\u0161t\u011bp rtu a roz\u0161t\u011bp patra postihuj\u00edc\u00ed ob\u011b strany obli\u010deje", "translation_language": "cs", @@ -178039,7 +178039,7 @@ { "subject_id": "HP:0002744", "predicate_id": "IAO:0000115", - "source_value": "Cleft lip and cleft palate affecting both sides of the face.", + "source_value": "Cleft lip and cleft palate affecting both sides of the face", "source_language": "en", "translation_value": "Surat\u0131n iki taraf\u0131n\u0131 da etkileyen yar\u0131k dudak ve yar\u0131k damak", "translation_language": "tr", @@ -178048,7 +178048,7 @@ { "subject_id": "HP:0002744", "predicate_id": "rdfs:label", - "source_value": "Bilateral cleft lip and palate", + "source_value": "obsolete Bilateral cleft lip and palate", "source_language": "en", "translation_value": "Bilaterale gespleten lip en gehemelte", "translation_language": "nl", @@ -178057,44 +178057,44 @@ { "subject_id": "HP:0002744", "predicate_id": "rdfs:label", - "source_value": "Bilateral cleft lip and palate", + "source_value": "obsolete Bilateral cleft lip and palate", "source_language": "en", "translation_value": "Fente labiale/palatine bilat\u00e9rale", "translation_language": "fr", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "comment": "label of HP:0002744 (Bilateral cleft lip and palate) ; abnormality of head or neck" }, { "subject_id": "HP:0002744", "predicate_id": "rdfs:label", - "source_value": "Bilateral cleft lip and palate", + "source_value": "obsolete Bilateral cleft lip and palate", "source_language": "en", "translation_value": "Roz\u0161t\u011bp tvrd\u00e9ho patra s oboustrann\u00fdm roz\u0161t\u011bpem rtu", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0002744", "predicate_id": "rdfs:label", - "source_value": "Bilateral cleft lip and palate", + "source_value": "obsolete Bilateral cleft lip and palate", "source_language": "en", "translation_value": "\u00c7ift tarafl\u0131 yar\u0131k dudak ve damak", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0002744", "predicate_id": "rdfs:label", - "source_value": "Bilateral cleft lip and palate", + "source_value": "obsolete Bilateral cleft lip and palate", "source_language": "en", "translation_value": "\u53cc\u4fa7\u5507\u816d\u88c2", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0002744", "predicate_id": "rdfs:label", - "source_value": "Bilateral cleft lip and palate", + "source_value": "obsolete Bilateral cleft lip and palate", "source_language": "en", "translation_value": "\u4e21\u5074\u6027\u53e3\u5507\u53e3\u84cb\u88c2", "translation_language": "ja", @@ -178102,17 +178102,17 @@ "translation_date": "2023-07-31", "translation_confidence": 1.0, "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0002744", "predicate_id": "rdfs:label", - "source_value": "Bilateral cleft lip and palate", + "source_value": "obsolete Bilateral cleft lip and palate", "source_language": "en", "translation_value": "Hendidura de labio y paladar bilateral", "translation_language": "es", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0002745", @@ -206188,16 +206188,16 @@ { "subject_id": "HP:0003220", "predicate_id": "IAO:0000115", - "source_value": "A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration.", + "source_value": "A type of chromosomal aberration characterized by reduced resistance of chromosomes to change or deterioration.", "source_language": "en", "translation_value": "Typ chromozomov\u00e9 aberace charakterizovan\u00fd sn\u00ed\u017eenou odolnost\u00ed chromozom\u016f k po\u0161kozen\u00ed", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0003220", "predicate_id": "IAO:0000115", - "source_value": "A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration.", + "source_value": "A type of chromosomal aberration characterized by reduced resistance of chromosomes to change or deterioration.", "source_language": "en", "translation_value": "Kromozomlar\u0131n de\u011fi\u015fime veya bozulmaya kar\u015f\u0131 direncini d\u00fc\u015f\u00fcren bir \u00e7e\u015fit kromozomal sapma", "translation_language": "tr", @@ -219754,7 +219754,7 @@ { "subject_id": "HP:0003452", "predicate_id": "rdfs:label", - "source_value": "Increased serum iron", + "source_value": "Increased circulating iron concentration", "source_language": "en", "translation_value": "Verhoogd serum ijzer", "translation_language": "nl", @@ -219763,44 +219763,44 @@ { "subject_id": "HP:0003452", "predicate_id": "rdfs:label", - "source_value": "Increased serum iron", + "source_value": "Increased circulating iron concentration", "source_language": "en", "translation_value": "Augmentation du fer serique", "translation_language": "fr", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "comment": "label of HP:0003452 (Increased serum iron) ; abnormality of metabolism/homeostasis" }, { "subject_id": "HP:0003452", "predicate_id": "rdfs:label", - "source_value": "Increased serum iron", + "source_value": "Increased circulating iron concentration", "source_language": "en", "translation_value": "Zv\u00fd\u0161en\u00e9 s\u00e9rov\u00e9 \u017eelezo", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0003452", "predicate_id": "rdfs:label", - "source_value": "Increased serum iron", + "source_value": "Increased circulating iron concentration", "source_language": "en", "translation_value": "Artm\u0131\u015f serum demiri", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0003452", "predicate_id": "rdfs:label", - "source_value": "Increased serum iron", + "source_value": "Increased circulating iron concentration", "source_language": "en", "translation_value": "\u8840\u6e05\u94c1\u79bb\u5b50\u589e\u9ad8", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0003452", "predicate_id": "rdfs:label", - "source_value": "Increased serum iron", + "source_value": "Increased circulating iron concentration", "source_language": "en", "translation_value": "\u8840\u6e05\u9244\u5897\u52a0", "translation_language": "ja", @@ -219808,17 +219808,17 @@ "translation_date": "2023-07-31", "translation_confidence": 1.0, "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0003452", "predicate_id": "rdfs:label", - "source_value": "Increased serum iron", + "source_value": "Increased circulating iron concentration", "source_language": "en", "translation_value": "Aumento de hierro s\u00e9rico", "translation_language": "es", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0003453", @@ -228142,16 +228142,16 @@ { "subject_id": "HP:0003637", "predicate_id": "IAO:0000115", - "source_value": "An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase level.", + "source_value": "Activity or concentration of 4-hydroxyphenylpyruvate dioxygenase in the blood circulation below the lower limit of normal.", "source_language": "en", "translation_value": "Abnorm\u00e1ln\u00ed sn\u00ed\u017een\u00ed hladiny 4-hydroxyfenylpyruv\u00e1tdioxygen\u00e1zy", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0003637", "predicate_id": "IAO:0000115", - "source_value": "An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase level.", + "source_value": "Activity or concentration of 4-hydroxyphenylpyruvate dioxygenase in the blood circulation below the lower limit of normal.", "source_language": "en", "translation_value": "4-hidroksifenilpir\u00fcvat dioksijenaz aktivitesinde anormal bir azalma", "translation_language": "tr", @@ -228160,7 +228160,7 @@ { "subject_id": "HP:0003637", "predicate_id": "rdfs:label", - "source_value": "Reduced 4-Hydroxyphenylpyruvate dioxygenase level", + "source_value": "Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity", "source_language": "en", "translation_value": "Verminderde 4-hydroxyfenylpyruvaat-dioxygenase activiteit", "translation_language": "nl", @@ -228169,7 +228169,7 @@ { "subject_id": "HP:0003637", "predicate_id": "rdfs:label", - "source_value": "Reduced 4-Hydroxyphenylpyruvate dioxygenase level", + "source_value": "Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity", "source_language": "en", "translation_value": "Activit\u00e9 r\u00e9duite de la 4-hydroxyph\u00e9nylpyruvate dioxyg\u00e9nase", "translation_language": "fr", @@ -228179,16 +228179,16 @@ { "subject_id": "HP:0003637", "predicate_id": "rdfs:label", - "source_value": "Reduced 4-Hydroxyphenylpyruvate dioxygenase level", + "source_value": "Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity", "source_language": "en", "translation_value": "Sn\u00ed\u017een\u00e1 hladina 4-hydroxyfenylpyruv\u00e1tdioxygen\u00e1zy", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0003637", "predicate_id": "rdfs:label", - "source_value": "Reduced 4-Hydroxyphenylpyruvate dioxygenase level", + "source_value": "Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity", "source_language": "en", "translation_value": "Azalm\u0131\u015f 4-hidroksifenilpir\u00fcvat dioksijenaz aktivitesi", "translation_language": "tr", @@ -228197,16 +228197,16 @@ { "subject_id": "HP:0003637", "predicate_id": "rdfs:label", - "source_value": "Reduced 4-Hydroxyphenylpyruvate dioxygenase level", + "source_value": "Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity", "source_language": "en", "translation_value": "4-\u7f9f\u57fa\u82ef\u4e19\u916e\u9178\u53cc\u52a0\u6c27\u9176\u6d3b\u6027\u964d\u4f4e", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0003637", "predicate_id": "rdfs:label", - "source_value": "Reduced 4-Hydroxyphenylpyruvate dioxygenase level", + "source_value": "Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity", "source_language": "en", "translation_value": "4-Hydroxyphenylpyruvate dioxygenase \u6d3b\u6027\u6e1b\u5c11", "translation_language": "ja", @@ -228214,13 +228214,13 @@ "translation_date": "2023-07-31", "translation_confidence": 1.0, "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0003637", "predicate_id": "rdfs:label", - "source_value": "Reduced 4-Hydroxyphenylpyruvate dioxygenase level", + "source_value": "Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity", "source_language": "en", "translation_value": "Disminuci\u00f3n de la actividad de 4 hidroxifenilpiruvato dioxigenasa", "translation_language": "es", @@ -261853,16 +261853,16 @@ { "subject_id": "HP:0004328", "predicate_id": "IAO:0000115", - "source_value": "An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens).", + "source_value": "An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humor: the cornea, iris, ciliary body, and lens).", "source_language": "en", "translation_value": "Abnormalita p\u0159edn\u00edho segmentu o\u010dn\u00ed koule (kter\u00fd zahrnuje struktury p\u0159ed sklivcem: rohovku, duhovku, \u0159asnat\u00e9 t\u011bl\u00edsko a \u010do\u010dku).", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0004328", "predicate_id": "IAO:0000115", - "source_value": "An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens).", + "source_value": "An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humor: the cornea, iris, ciliary body, and lens).", "source_language": "en", "translation_value": "G\u00f6z yuvarla\u011f\u0131n\u0131n \u00f6n b\u00f6l\u00fcm\u00fcnde bir anormallik (vitr\u00f6z h\u00fcmorun \u00f6n\u00fcndeki yap\u0131lar\u0131 i\u00e7erir: kornea, iris, silier cisim ve lens)", "translation_language": "tr", @@ -267077,16 +267077,16 @@ { "subject_id": "HP:0004398", "predicate_id": "IAO:0000115", - "source_value": "The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the oesophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers.", + "source_value": "The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the esophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers.", "source_language": "en", "translation_value": "Term\u00edn peptick\u00fd v\u0159ed ozna\u010duje kysel\u00e9 peptick\u00e9 po\u0161kozen\u00ed tr\u00e1vic\u00edho traktu, kter\u00e9 vede k poru\u0161en\u00ed sliznice a\u017e do podko\u017e\u00ed. Peptick\u00e9 v\u0159edy se obvykle nach\u00e1zej\u00ed v \u017ealudku nebo proxim\u00e1ln\u00edm duodenu, ale mohou se vyskytovat i v j\u00edcnu nebo Meckelov\u011b divertiklu. Infekce Helicobacter pylori a u\u017e\u00edv\u00e1n\u00ed nesteroidn\u00edch protiz\u00e1n\u011btliv\u00fdch l\u00e9k\u016f (NSAID) nebo aspirinu jsou hlavn\u00edmi rizikov\u00fdmi faktory vzniku \u017ealude\u010dn\u00edch i dvan\u00e1ctn\u00edkov\u00fdch v\u0159ed\u016f.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0004398", "predicate_id": "IAO:0000115", - "source_value": "The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the oesophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers.", + "source_value": "The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the esophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers.", "source_language": "en", "translation_value": "Gastrointestinal kanal\u0131n bir \u00fclseri", "translation_language": "tr", @@ -269345,7 +269345,7 @@ { "subject_id": "HP:0004431", "predicate_id": "rdfs:label", - "source_value": "Complement deficiency", + "source_value": "Reduced circulating complement concentration", "source_language": "en", "translation_value": "Complement defici\u00ebntie", "translation_language": "nl", @@ -269354,44 +269354,44 @@ { "subject_id": "HP:0004431", "predicate_id": "rdfs:label", - "source_value": "Complement deficiency", + "source_value": "Reduced circulating complement concentration", "source_language": "en", "translation_value": "D\u00e9ficit en compl\u00e9ment", "translation_language": "fr", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "comment": "label of HP:0004431 (Complement deficiency) ; abnormality of the immune system" }, { "subject_id": "HP:0004431", "predicate_id": "rdfs:label", - "source_value": "Complement deficiency", + "source_value": "Reduced circulating complement concentration", "source_language": "en", "translation_value": "Nedostatek komplementu", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0004431", "predicate_id": "rdfs:label", - "source_value": "Complement deficiency", + "source_value": "Reduced circulating complement concentration", "source_language": "en", "translation_value": "Kompleman eksikli\u011fi", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0004431", "predicate_id": "rdfs:label", - "source_value": "Complement deficiency", + "source_value": "Reduced circulating complement concentration", "source_language": "en", "translation_value": "\u8865\u4f53\u7f3a\u9677", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0004431", "predicate_id": "rdfs:label", - "source_value": "Complement deficiency", + "source_value": "Reduced circulating complement concentration", "source_language": "en", "translation_value": "\u88dc\u4f53\u6b20\u4e4f\u75c7", "translation_language": "ja", @@ -269399,17 +269399,17 @@ "translation_date": "2023-07-31", "translation_confidence": 1.0, "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0004431", "predicate_id": "rdfs:label", - "source_value": "Complement deficiency", + "source_value": "Reduced circulating complement concentration", "source_language": "en", "translation_value": "Deficiencia del complemento", "translation_language": "es", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0004432", @@ -286975,7 +286975,7 @@ { "subject_id": "HP:0004857", "predicate_id": "IAO:0000115", - "source_value": "A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin.", + "source_value": "A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of hemoglobin.", "source_language": "en", "translation_value": "Typ an\u00e9mie, kter\u00e1 se projevuje abnorm\u00e1ln\u011b velk\u00fdmi erytrocyty s abnorm\u00e1ln\u011b vysok\u00fdm mno\u017estv\u00edm hemoglobinu.", "translation_language": "cs", @@ -286984,7 +286984,7 @@ { "subject_id": "HP:0004857", "predicate_id": "IAO:0000115", - "source_value": "A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin.", + "source_value": "A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of hemoglobin.", "source_language": "en", "translation_value": "Anormal y\u00fcksek miktarda hemoglobin i\u00e7eren anormal b\u00fcy\u00fckl\u00fckte eritrositlerle karakterize edilen bir t\u00fcr anemi", "translation_language": "tr", @@ -298712,16 +298712,16 @@ { "subject_id": "HP:0005106", "predicate_id": "IAO:0000115", - "source_value": "Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs.", + "source_value": "Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral disks.", "source_language": "en", "translation_value": "Jak\u00e1koliv abnormalita kryc\u00edch ploch obratl\u016f, kter\u00e9 jsou na vrchn\u00ed a spodn\u00ed \u010d\u00e1sti t\u011bla obratle, kter\u00e9 nal\u00e9haj\u00ed na meziobratlov\u00e9 plot\u00e9nky", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0005106", "predicate_id": "IAO:0000115", - "source_value": "Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs.", + "source_value": "Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral disks.", "source_language": "en", "translation_value": "Vertebral disklerin \u00fcst ve alt k\u0131s\u0131mlar\u0131 olan vertebral u\u00e7 plakalar\u0131n\u0131n herhangi bir anormalli\u011fi, vertebral disklerle arabirim olu\u015fturur", "translation_language": "tr", @@ -309204,7 +309204,7 @@ { "subject_id": "HP:0005289", "predicate_id": "rdfs:label", - "source_value": "Abnormality of the nasolabial region", + "source_value": "Abnormal nasolabial region morphology", "source_language": "en", "translation_value": "Afwijking van de nasolabiale regio", "translation_language": "nl", @@ -309213,44 +309213,44 @@ { "subject_id": "HP:0005289", "predicate_id": "rdfs:label", - "source_value": "Abnormality of the nasolabial region", + "source_value": "Abnormal nasolabial region morphology", "source_language": "en", "translation_value": "Anomalie de la r\u00e9gion nasolabiale", "translation_language": "fr", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "comment": "label of HP:0005289 (Abnormality of the nasolabial region) ; abnormality of head or neck" }, { "subject_id": "HP:0005289", "predicate_id": "rdfs:label", - "source_value": "Abnormality of the nasolabial region", + "source_value": "Abnormal nasolabial region morphology", "source_language": "en", "translation_value": "Abnormalita nazolabi\u00e1ln\u00ed oblasti", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0005289", "predicate_id": "rdfs:label", - "source_value": "Abnormality of the nasolabial region", + "source_value": "Abnormal nasolabial region morphology", "source_language": "en", "translation_value": "Nazolabiyal b\u00f6lgenin anormalli\u011fi", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0005289", "predicate_id": "rdfs:label", - "source_value": "Abnormality of the nasolabial region", + "source_value": "Abnormal nasolabial region morphology", "source_language": "en", "translation_value": "\u9f3b\u5507\u533a\u5f02\u5e38", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0005289", "predicate_id": "rdfs:label", - "source_value": "Abnormality of the nasolabial region", + "source_value": "Abnormal nasolabial region morphology", "source_language": "en", "translation_value": "\u9f3b\u5507\u9818\u57df\u306e\u7570\u5e38", "translation_language": "ja", @@ -309258,17 +309258,17 @@ "translation_date": "2023-07-31", "translation_confidence": 1.0, "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0005289", "predicate_id": "rdfs:label", - "source_value": "Abnormality of the nasolabial region", + "source_value": "Abnormal nasolabial region morphology", "source_language": "en", "translation_value": "Anomal\u00eda de la regi\u00f3n nasolabial", "translation_language": "es", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0005290", @@ -358559,7 +358559,7 @@ { "subject_id": "HP:0006417", "predicate_id": "rdfs:label", - "source_value": "Broad femoral metaphyses", + "source_value": "Wide femoral metaphysis", "source_language": "en", "translation_value": "Brede metafysen van femur", "translation_language": "nl", @@ -358568,44 +358568,44 @@ { "subject_id": "HP:0006417", "predicate_id": "rdfs:label", - "source_value": "Broad femoral metaphyses", + "source_value": "Wide femoral metaphysis", "source_language": "en", "translation_value": "Larges m\u00e9taphyses f\u00e9morales", "translation_language": "fr", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "comment": "label of HP:0006417 (Broad femoral metaphyses) ; abnormality of limbs ; abnormality of the skeletal system" }, { "subject_id": "HP:0006417", "predicate_id": "rdfs:label", - "source_value": "Broad femoral metaphyses", + "source_value": "Wide femoral metaphysis", "source_language": "en", "translation_value": "\u0160irok\u00e9 metaf\u00fdzy femuru", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0006417", "predicate_id": "rdfs:label", - "source_value": "Broad femoral metaphyses", + "source_value": "Wide femoral metaphysis", "source_language": "en", "translation_value": "Geni\u015f femoral metafizler", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0006417", "predicate_id": "rdfs:label", - "source_value": "Broad femoral metaphyses", + "source_value": "Wide femoral metaphysis", "source_language": "en", "translation_value": "\u80a1\u9aa8\u5e72\u9aba\u7aef\u53d8\u5bbd", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0006417", "predicate_id": "rdfs:label", - "source_value": "Broad femoral metaphyses", + "source_value": "Wide femoral metaphysis", "source_language": "en", "translation_value": "\u5e45\u5e83\u3044\u5927\u817f\u9aa8\u9aa8\u5e79\u7aef", "translation_language": "ja", @@ -358613,17 +358613,17 @@ "translation_date": "2023-07-31", "translation_confidence": 1.0, "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0006417", "predicate_id": "rdfs:label", - "source_value": "Broad femoral metaphyses", + "source_value": "Wide femoral metaphysis", "source_language": "en", "translation_value": "Met\u00e1fisis femorales anchas", "translation_language": "es", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0006420", @@ -359036,7 +359036,7 @@ { "subject_id": "HP:0006431", "predicate_id": "rdfs:label", - "source_value": "Proximal femoral metaphyseal abnormality", + "source_value": "Abnormal proximal femoral metaphysis morphology", "source_language": "en", "translation_value": "Proximale femorale metafysaire afwijking", "translation_language": "nl", @@ -359045,26 +359045,26 @@ { "subject_id": "HP:0006431", "predicate_id": "rdfs:label", - "source_value": "Proximal femoral metaphyseal abnormality", + "source_value": "Abnormal proximal femoral metaphysis morphology", "source_language": "en", "translation_value": "Anomalies m\u00e9taphysaires des f\u00e9murs proximaux", "translation_language": "fr", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "comment": "label of HP:0006431 (Proximal femoral metaphyseal abnormality) ; abnormality of limbs ; abnormality of the skeletal system" }, { "subject_id": "HP:0006431", "predicate_id": "rdfs:label", - "source_value": "Proximal femoral metaphyseal abnormality", + "source_value": "Abnormal proximal femoral metaphysis morphology", "source_language": "en", "translation_value": "Abnormalita proxim\u00e1ln\u00ed femor\u00e1ln\u00ed metaf\u00fdzy", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0006431", "predicate_id": "rdfs:label", - "source_value": "Proximal femoral metaphyseal abnormality", + "source_value": "Abnormal proximal femoral metaphysis morphology", "source_language": "en", "translation_value": "Proksimal femoral metafizyal anormallik", "translation_language": "tr", @@ -359073,16 +359073,16 @@ { "subject_id": "HP:0006431", "predicate_id": "rdfs:label", - "source_value": "Proximal femoral metaphyseal abnormality", + "source_value": "Abnormal proximal femoral metaphysis morphology", "source_language": "en", "translation_value": "\u80a1\u9aa8\u8fd1\u7aef\u5e72\u9aba\u7aef\u5f02\u5e38", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0006431", "predicate_id": "rdfs:label", - "source_value": "Proximal femoral metaphyseal abnormality", + "source_value": "Abnormal proximal femoral metaphysis morphology", "source_language": "en", "translation_value": "\u9060\u4f4d\u304a\u3088\u3073\u8fd1\u4f4d\u5927\u817f\u9aa8\u306e\u9aa8\u5e79\u7aef\u7570\u5e38", "translation_language": "ja", @@ -359090,17 +359090,17 @@ "translation_date": "2023-07-31", "translation_confidence": 1.0, "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0006431", "predicate_id": "rdfs:label", - "source_value": "Proximal femoral metaphyseal abnormality", + "source_value": "Abnormal proximal femoral metaphysis morphology", "source_language": "en", "translation_value": "Anomal\u00edas metafisaria de f\u00e9mur distal y proximal", "translation_language": "es", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0006432", @@ -395696,16 +395696,16 @@ { "subject_id": "HP:0007270", "predicate_id": "IAO:0000115", - "source_value": "An atypical absence seizure is a type of generalised non-motor (absence) seizure characterised by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity.", + "source_value": "An atypical absence seizure is a type of generalized non-motor (absence) seizure characterized by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity.", "source_language": "en", "translation_value": "Atypick\u00fd z\u00e1chvat absence je typ generalizovan\u00e9ho nemotorick\u00e9ho z\u00e1chvatu (absence), kter\u00fd se vyzna\u010duje p\u0159eru\u0161en\u00edm prob\u00edhaj\u00edc\u00edch \u010dinnost\u00ed a sn\u00ed\u017eenou reaktivitou. Ve srovn\u00e1n\u00ed s typick\u00fdm z\u00e1chvatem absence mohou b\u00fdt zm\u011bny tonu v\u00fdrazn\u011bj\u0161\u00ed, n\u00e1stup a/nebo ukon\u010den\u00ed z\u00e1chvatu mohou b\u00fdt m\u00e9n\u011b n\u00e1hl\u00e9 a doba trv\u00e1n\u00ed iktu a zotaven\u00ed po z\u00e1chvatu m\u016f\u017ee b\u00fdt del\u0161\u00ed. A\u010dkoli nen\u00ed v\u017edy k dispozici, EEG \u010dasto prokazuje pomalou (<3 Hz), nepravidelnou, generalizovanou aktivitu s hroty a vlnami.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0007270", "predicate_id": "IAO:0000115", - "source_value": "An atypical absence seizure is a type of generalised non-motor (absence) seizure characterised by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity.", + "source_value": "An atypical absence seizure is a type of generalized non-motor (absence) seizure characterized by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity.", "source_language": "en", "translation_value": "Gizlice nitelenen yokluk tutulmalar\u0131 ba\u015flar ve biter ve s\u0131k s\u0131k s\u00fcreci uzat\u0131r, Elektroensefalografi \u00fczerinde yava\u015f dik-dalga de\u015farjlar\u0131 taraf\u0131ndan e\u015flik edilir", "translation_language": "tr", @@ -402420,16 +402420,16 @@ { "subject_id": "HP:0007413", "predicate_id": "IAO:0000115", - "source_value": "Naevus flammeus localised in the skin of the forehead.", + "source_value": "Naevus flammeus localized in the skin of the forehead.", "source_language": "en", "translation_value": "Naevus flammeus lokalizovan\u00fd na k\u016f\u017ei \u010dela", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0007413", "predicate_id": "IAO:0000115", - "source_value": "Naevus flammeus localised in the skin of the forehead.", + "source_value": "Naevus flammeus localized in the skin of the forehead.", "source_language": "en", "translation_value": "Porto \u015farap lekesi aln\u0131n derisinde lokalizedir", "translation_language": "tr", @@ -412659,16 +412659,16 @@ { "subject_id": "HP:0007616", "predicate_id": "IAO:0000115", - "source_value": "Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns.", + "source_value": "Naevus flammeus localized in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns.", "source_language": "en", "translation_value": "Naevus flammeus lokalizovan\u00fd na k\u016f\u017ei na krku. Jedn\u00e1 se o jedno z nej\u010dast\u011bj\u0161\u00edch mate\u0159sk\u00fdch znam\u00e9nek, kter\u00e9 se vyskytuje p\u0159ibli\u017en\u011b u 25 % v\u0161ech novorozenc\u016f.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0007616", "predicate_id": "IAO:0000115", - "source_value": "Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns.", + "source_value": "Naevus flammeus localized in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns.", "source_language": "en", "translation_value": "Naevus flammeus un boyun derisine yerle\u015fmesi. Bu, en yayg\u0131n do\u011fum lekelerinden biridir ve t\u00fcm yeni do\u011fanlar\u0131n yakla\u015f\u0131k% 25'inde mevcuttur", "translation_language": "tr", @@ -413439,16 +413439,16 @@ { "subject_id": "HP:0007634", "predicate_id": "IAO:0000115", - "source_value": "An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates.", + "source_value": "An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disk or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates.", "source_language": "en", "translation_value": "Akutn\u00ed stav charakterizovan\u00fd n\u00e1hlou ztr\u00e1tou zraku (obvykle zji\u0161t\u011bnou r\u00e1no), ed\u00e9mem optick\u00e9ho disku na po\u010d\u00e1tku, defekty zorn\u00e9ho pole souvisej\u00edc\u00edmi s optick\u00fdm diskem. Nearteritick\u00e1 p\u0159edn\u00ed ischemick\u00e1 optick\u00e1 neuropatie m\u016f\u017ee b\u00fdt spojena s plamenkovit\u00fdmi krv\u00e1cen\u00edmi na otekl\u00e9m disku nebo bl\u00edzk\u00e9 neuroretin\u00e1ln\u00ed vrstv\u011b a n\u011bkdy s bl\u00edzk\u00fdmi vatovit\u00fdmi exsud\u00e1ty.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0007634", "predicate_id": "IAO:0000115", - "source_value": "An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates.", + "source_value": "An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disk or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates.", "source_language": "en", "translation_value": "Akut bir durum, ani g\u00f6rme kayb\u0131 (genellikle sabahlar\u0131 ortaya \u00e7\u0131kar) ba\u015flang\u0131\u00e7ta optik disk \u00f6demi, optik diske ba\u011fl\u0131 g\u00f6rme bozukluklar\u0131yla karakterize edilir. Nonarteritik anterior iskemik optik n\u00f6ropati, \u015fi\u015fmi\u015f disk \u00fczerinde ya da yak\u0131ndaki n\u00f6roretinal tabakada alev \u015feklinde kanamalarla ve yak\u0131nlardaki pamuklu-y\u00fcn \u015feklindeki eks\u00fcdalarla ba\u011flant\u0131l\u0131 olabilir", "translation_language": "tr", @@ -419406,20 +419406,20 @@ { "subject_id": "HP:0007773", "predicate_id": "IAO:0000115", - "source_value": "Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment.", + "source_value": "Ocular abnormality characterized by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment.", "source_language": "en", "translation_value": "O\u010dn\u00ed abnormalita charakterizovan\u00e1 p\u0159ed\u010dasnou degenerac\u00ed sklivce a s\u00edtnice, kter\u00e1 m\u016f\u017ee b\u00fdt spojena se zv\u00fd\u0161en\u00fdm rizikem odchl\u00edpen\u00ed s\u00edtnice.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0007773", "predicate_id": "IAO:0000115", - "source_value": "Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment.", + "source_value": "Ocular abnormality characterized by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment.", "source_language": "en", "translation_value": "Artm\u0131\u015f retinal dekolman riski ile ili\u015fkili olabilen vitr\u00f6z\u00fcn ve retinan\u0131n premat\u00fcr dejenerasyonu ile karakterize ok\u00fcler anormallik", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0007773", @@ -424666,16 +424666,16 @@ { "subject_id": "HP:0007894", "predicate_id": "IAO:0000115", - "source_value": "Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid).", + "source_value": "Reduced pigmentation of the fundus, typically generalized. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid).", "source_language": "en", "translation_value": "Sn\u00ed\u017een\u00e1 pigmentace o\u010dn\u00edho fundu, typicky generalizovan\u00e1. Pomoc\u00ed fundoskopie m\u016f\u017eeme odhalit n\u00edzkou hladinu pigmentu v oblasti RPE a c\u00e9vnatku s dobre viditeln\u00fdmi choroid\u00e1ln\u00edmi c\u00e9vami (bled\u00e9/albinoidn\u00ed) nebo n\u00edzkou hladinu pigmentu v oblasti RPE s hlubok\u00fdm pigmentem v c\u00e9vnatce, tak\u017ee viditeln\u00e9 choroid\u00e1ln\u00ed c\u00e9vy jsou odd\u011bleny hluboce pigmentovan\u00fdmi z\u00f3nami (teselovan\u00e9/tigroidn\u00ed ).", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0007894", "predicate_id": "IAO:0000115", - "source_value": "Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid).", + "source_value": "Reduced pigmentation of the fundus, typically generalized. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid).", "source_language": "en", "translation_value": "Fundusun pigmentasyonunun azalmas\u0131, tipik olarak genelle\u015ftirilebilir. Fundoskopi RPE de koroid damarlar\u0131n\u0131n berrak g\u00f6r\u00fcnebilirli\u011fi ile (renksiz / albinoid) veya koroiddeki derin pigmentli RPE de d\u00fc\u015f\u00fck pigment seviyesi ile RPE de ve koroidde d\u00fc\u015f\u00fck seviyeli bir pigment ortaya \u00e7\u0131karabilir, b\u00f6ylece g\u00f6r\u00fcn\u00fcr koroid damarlar\u0131 derin pigmentli b\u00f6lgeler (mozaik / benekli) ile ayr\u0131l\u0131r", "translation_language": "tr", @@ -427867,16 +427867,16 @@ { "subject_id": "HP:0007968", "predicate_id": "IAO:0000115", - "source_value": "Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract.", + "source_value": "Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract.", "source_language": "en", "translation_value": "Perzistence hyaloidn\u00ed tepny, co\u017e je embryon\u00e1ln\u00ed tepna, kter\u00e1 vede od disku zrakov\u00e9ho nervu k zadn\u00edmu pouzdru \u010do\u010dky; m\u00edsto \u00faponu m\u016f\u017ee tvo\u0159it z\u00e1kal. Hyaloidn\u00ed tepna je v\u011btv\u00ed oftalmick\u00e9 tepny a obvykle zcela regreduje p\u0159ed narozen\u00edm. Tato vlastnost je d\u016fsledkem selh\u00e1n\u00ed regrese hyaloidn\u00ed c\u00e9vy, kter\u00e1 z\u00e1sobuje prim\u00e1rn\u00ed sklivec b\u011bhem embryogeneze a norm\u00e1ln\u011b regreduje ve t\u0159et\u00edm trimestru t\u011bhotenstv\u00ed, co\u017e vede ke zvl\u00e1\u0161tn\u00ed form\u011b zadn\u00ed katarakty.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0007968", "predicate_id": "IAO:0000115", - "source_value": "Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract.", + "source_value": "Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract.", "source_language": "en", "translation_value": "Optik diskten arka mercek kaps\u00fcl\u00fcne kadar uzanan embriyonik arter olan hiyaloid arterinin inat\u00e7\u0131l\u0131\u011f\u0131 devam edebilir; ba\u011flanma yeri opakl\u0131k olu\u015fturabilir. Hiyaloid arter oftalmik arterin bir dal\u0131d\u0131r ve genellikle do\u011fumdan \u00f6nce tamamen geriler. Bu \u00f6zellikler, embriyogenez s\u0131ras\u0131nda primer vitreusa neden olan ve genellikle gebeli\u011fin \u00fc\u00e7\u00fcnc\u00fc \u00fc\u00e7 ayl\u0131k d\u00f6neminde gerileyen hiyaloid damar\u0131n gerilemesindeki ba\u015far\u0131s\u0131zl\u0131ktan kaynaklan\u0131r ve belirli bir posterior katarakt \u015fekline neden olur", "translation_language": "tr", @@ -449373,7 +449373,7 @@ { "subject_id": "HP:0008419", "predicate_id": "rdfs:label", - "source_value": "Intervertebral disc degeneration", + "source_value": "Intervertebral disk degeneration", "source_language": "en", "translation_value": "Degeneratie van de tussenwervelschijf", "translation_language": "nl", @@ -449382,44 +449382,44 @@ { "subject_id": "HP:0008419", "predicate_id": "rdfs:label", - "source_value": "Intervertebral disc degeneration", + "source_value": "Intervertebral disk degeneration", "source_language": "en", "translation_value": "D\u00e9g\u00e9n\u00e9rescence des disques intervert\u00e9braux", "translation_language": "fr", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "comment": "label of HP:0008419 (Intervertebral disc degeneration) ; abnormality of the skeletal system" }, { "subject_id": "HP:0008419", "predicate_id": "rdfs:label", - "source_value": "Intervertebral disc degeneration", + "source_value": "Intervertebral disk degeneration", "source_language": "en", "translation_value": "Degenerace meziobratlov\u00e9 plot\u00e9nky", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0008419", "predicate_id": "rdfs:label", - "source_value": "Intervertebral disc degeneration", + "source_value": "Intervertebral disk degeneration", "source_language": "en", "translation_value": "\u0130ntervertebral disk dejenerasyonu", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0008419", "predicate_id": "rdfs:label", - "source_value": "Intervertebral disc degeneration", + "source_value": "Intervertebral disk degeneration", "source_language": "en", "translation_value": "\u690e\u95f4\u76d8\u9000\u884c\u6027\u53d8", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0008419", "predicate_id": "rdfs:label", - "source_value": "Intervertebral disc degeneration", + "source_value": "Intervertebral disk degeneration", "source_language": "en", "translation_value": "\u690e\u9593\u677f\u5909\u6027", "translation_language": "ja", @@ -449427,17 +449427,17 @@ "translation_date": "2023-07-31", "translation_confidence": 1.0, "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0008419", "predicate_id": "rdfs:label", - "source_value": "Intervertebral disc degeneration", + "source_value": "Intervertebral disk degeneration", "source_language": "en", "translation_value": "Degeneraci\u00f3n del disco intervertebral", "translation_language": "es", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0008420", @@ -454320,7 +454320,7 @@ { "subject_id": "HP:0008498", "predicate_id": "rdfs:label", - "source_value": "No permanent dentition", + "source_value": "obsolete No permanent dentition", "source_language": "en", "translation_value": "Geen permanente dentitie", "translation_language": "nl", @@ -454329,44 +454329,44 @@ { "subject_id": "HP:0008498", "predicate_id": "rdfs:label", - "source_value": "No permanent dentition", + "source_value": "obsolete No permanent dentition", "source_language": "en", "translation_value": "Absence de dentition permanente", "translation_language": "fr", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "comment": "label of HP:0008498 (No permanent dentition) ; abnormality of head or neck" }, { "subject_id": "HP:0008498", "predicate_id": "rdfs:label", - "source_value": "No permanent dentition", + "source_value": "obsolete No permanent dentition", "source_language": "en", "translation_value": "Chyb\u011bn\u00ed trval\u00e9ho chrupu", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0008498", "predicate_id": "rdfs:label", - "source_value": "No permanent dentition", + "source_value": "obsolete No permanent dentition", "source_language": "en", "translation_value": "Kal\u0131c\u0131 di\u015flenmenin olmamas\u0131", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0008498", "predicate_id": "rdfs:label", - "source_value": "No permanent dentition", + "source_value": "obsolete No permanent dentition", "source_language": "en", "translation_value": "\u65e0\u6052\u7259", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0008498", "predicate_id": "rdfs:label", - "source_value": "No permanent dentition", + "source_value": "obsolete No permanent dentition", "source_language": "en", "translation_value": "\u6c38\u4e45\u6b6f\u5b8c\u5168\u6b20\u640d", "translation_language": "ja", @@ -454374,17 +454374,17 @@ "translation_date": "2023-07-31", "translation_confidence": 1.0, "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0008498", "predicate_id": "rdfs:label", - "source_value": "No permanent dentition", + "source_value": "obsolete No permanent dentition", "source_language": "en", "translation_value": "Ausencia de dentici\u00f3n permanente", "translation_language": "es", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0008499", @@ -454476,7 +454476,7 @@ { "subject_id": "HP:0008501", "predicate_id": "IAO:0000115", - "source_value": "Cleft lip or palate affecting the midline region of the palate.", + "source_value": "Cleft lip or palate affecting the midline region of the palate", "source_language": "en", "translation_value": "Roz\u0161t\u011bp rtu a patra postihuj\u00edc\u00ed st\u0159edovou oblast patra", "translation_language": "cs", @@ -454485,7 +454485,7 @@ { "subject_id": "HP:0008501", "predicate_id": "IAO:0000115", - "source_value": "Cleft lip or palate affecting the midline region of the palate.", + "source_value": "Cleft lip or palate affecting the midline region of the palate", "source_language": "en", "translation_value": "Damak orta hatt\u0131n\u0131 etkileyen yar\u0131k dudak veya damak", "translation_language": "tr", @@ -454494,7 +454494,7 @@ { "subject_id": "HP:0008501", "predicate_id": "rdfs:label", - "source_value": "Median cleft lip and palate", + "source_value": "obsolete Median cleft lip and palate", "source_language": "en", "translation_value": "Mediaan gespleten lip en gehemelte", "translation_language": "nl", @@ -454503,44 +454503,44 @@ { "subject_id": "HP:0008501", "predicate_id": "rdfs:label", - "source_value": "Median cleft lip and palate", + "source_value": "obsolete Median cleft lip and palate", "source_language": "en", "translation_value": "Fente labiale/palatine m\u00e9diane", "translation_language": "fr", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "comment": "label of HP:0008501 (Median cleft lip and palate) ; abnormality of head or neck" }, { "subject_id": "HP:0008501", "predicate_id": "rdfs:label", - "source_value": "Median cleft lip and palate", + "source_value": "obsolete Median cleft lip and palate", "source_language": "en", "translation_value": "St\u0159edov\u00fd roz\u0161t\u011bpen\u00fd rtu a patra", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0008501", "predicate_id": "rdfs:label", - "source_value": "Median cleft lip and palate", + "source_value": "obsolete Median cleft lip and palate", "source_language": "en", "translation_value": "Orta hat yar\u0131k dudak ve damak", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0008501", "predicate_id": "rdfs:label", - "source_value": "Median cleft lip and palate", + "source_value": "obsolete Median cleft lip and palate", "source_language": "en", "translation_value": "\u5507\u816d\u6b63\u4e2d\u88c2", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0008501", "predicate_id": "rdfs:label", - "source_value": "Median cleft lip and palate", + "source_value": "obsolete Median cleft lip and palate", "source_language": "en", "translation_value": "\u6b63\u4e2d\u53e3\u5507\u53e3\u84cb\u88c2", "translation_language": "ja", @@ -454548,17 +454548,17 @@ "translation_date": "2023-07-31", "translation_confidence": 1.0, "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0008501", "predicate_id": "rdfs:label", - "source_value": "Median cleft lip and palate", + "source_value": "obsolete Median cleft lip and palate", "source_language": "en", "translation_value": "Hendidura central de labio y paladar", "translation_language": "es", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0008504", @@ -458565,25 +458565,25 @@ { "subject_id": "HP:0008635", "predicate_id": "IAO:0000115", - "source_value": "Abnormal enlargement of the urinary bladder.", + "source_value": "Increase in thickness of the wall of the urinary bladder. This finding may be seen in conditions such as bladder outlet obstruction and may be accompanied by increased trabeculation of the bladder wall musculature.", "source_language": "en", "translation_value": "Abnorm\u00e1ln\u00ed zv\u011bt\u0161en\u00ed mo\u010dov\u00e9ho m\u011bch\u00fd\u0159e.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0008635", "predicate_id": "IAO:0000115", - "source_value": "Abnormal enlargement of the urinary bladder.", + "source_value": "Increase in thickness of the wall of the urinary bladder. This finding may be seen in conditions such as bladder outlet obstruction and may be accompanied by increased trabeculation of the bladder wall musculature.", "source_language": "en", "translation_value": "Mesanenin anormal geni\u015flemesi", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0008635", "predicate_id": "rdfs:label", - "source_value": "Hypertrophy of the urinary bladder", + "source_value": "Urinary bladder wall hypertrophy", "source_language": "en", "translation_value": "Hypertrofie van de blaas", "translation_language": "nl", @@ -458592,44 +458592,44 @@ { "subject_id": "HP:0008635", "predicate_id": "rdfs:label", - "source_value": "Hypertrophy of the urinary bladder", + "source_value": "Urinary bladder wall hypertrophy", "source_language": "en", "translation_value": "Hypertrophie de la vessie urinaire", "translation_language": "fr", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "comment": "label of HP:0008635 (Hypertrophy of the urinary bladder) ; abnormality of the genitourinary system" }, { "subject_id": "HP:0008635", "predicate_id": "rdfs:label", - "source_value": "Hypertrophy of the urinary bladder", + "source_value": "Urinary bladder wall hypertrophy", "source_language": "en", "translation_value": "Hypertrofie mo\u010dov\u00e9ho m\u011bch\u00fd\u0159e", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0008635", "predicate_id": "rdfs:label", - "source_value": "Hypertrophy of the urinary bladder", + "source_value": "Urinary bladder wall hypertrophy", "source_language": "en", "translation_value": "Mesane hipertrofisi", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0008635", "predicate_id": "rdfs:label", - "source_value": "Hypertrophy of the urinary bladder", + "source_value": "Urinary bladder wall hypertrophy", "source_language": "en", "translation_value": "\u8180\u80f1\u80a5\u5927", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0008635", "predicate_id": "rdfs:label", - "source_value": "Hypertrophy of the urinary bladder", + "source_value": "Urinary bladder wall hypertrophy", "source_language": "en", "translation_value": "\u8180\u80f1\u80a5\u5927", "translation_language": "ja", @@ -458637,17 +458637,17 @@ "translation_date": "2023-07-31", "translation_confidence": 1.0, "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0008635", "predicate_id": "rdfs:label", - "source_value": "Hypertrophy of the urinary bladder", + "source_value": "Urinary bladder wall hypertrophy", "source_language": "en", "translation_value": "Hipertrofia de la vejiga urinaria", "translation_language": "es", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0008636", @@ -515691,7 +515691,7 @@ { "subject_id": "HP:0009595", "predicate_id": "IAO:0000115", - "source_value": "Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1.", + "source_value": "Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1", "source_language": "en", "translation_value": "Men\u0161\u00ed po\u010det neurofibrom\u016f ne\u017e je obvykl\u00e9 u neurofibromat\u00f3zy typu 1", "translation_language": "cs", @@ -515700,7 +515700,7 @@ { "subject_id": "HP:0009595", "predicate_id": "IAO:0000115", - "source_value": "Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1.", + "source_value": "Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1", "source_language": "en", "translation_value": "N\u00f6rofibromatozis tip 1'de s\u0131kl\u0131kla g\u00f6zlenenden daha az say\u0131da n\u00f6rofibroma vard\u0131r", "translation_language": "tr", @@ -515709,7 +515709,7 @@ { "subject_id": "HP:0009595", "predicate_id": "rdfs:label", - "source_value": "Occasional neurofibromas", + "source_value": "obsolete Occasional neurofibromas", "source_language": "en", "translation_value": "Occasionele neurofibromen", "translation_language": "nl", @@ -515718,44 +515718,44 @@ { "subject_id": "HP:0009595", "predicate_id": "rdfs:label", - "source_value": "Occasional neurofibromas", + "source_value": "obsolete Occasional neurofibromas", "source_language": "en", "translation_value": "neurofibromes occasionnels", "translation_language": "fr", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "comment": "label of HP:0009595 (Occasional neurofibromas) ; abnormality of the nervous system ; abnormality of the integument ; neoplasm" }, { "subject_id": "HP:0009595", "predicate_id": "rdfs:label", - "source_value": "Occasional neurofibromas", + "source_value": "obsolete Occasional neurofibromas", "source_language": "en", "translation_value": "N\u00e1hodn\u00e9 neurofibromy (mimo neurofibromat\u00f3zu)", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0009595", "predicate_id": "rdfs:label", - "source_value": "Occasional neurofibromas", + "source_value": "obsolete Occasional neurofibromas", "source_language": "en", "translation_value": "Nadir n\u00f6rofibromlar", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0009595", "predicate_id": "rdfs:label", - "source_value": "Occasional neurofibromas", + "source_value": "obsolete Occasional neurofibromas", "source_language": "en", "translation_value": "\u5076\u53d1\u7684\u795e\u7ecf\u7ea4\u7ef4\u7624", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0009595", "predicate_id": "rdfs:label", - "source_value": "Occasional neurofibromas", + "source_value": "obsolete Occasional neurofibromas", "source_language": "en", "translation_value": "\u6642\u305f\u307e\u306e\u795e\u7d4c\u7dda\u7dad\u816b", "translation_language": "ja", @@ -515763,17 +515763,17 @@ "translation_date": "2023-07-31", "translation_confidence": 1.0, "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0009595", "predicate_id": "rdfs:label", - "source_value": "Occasional neurofibromas", + "source_value": "obsolete Occasional neurofibromas", "source_language": "en", "translation_value": "Neurofibromas ocasionales", "translation_language": "es", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0009596", @@ -525771,20 +525771,20 @@ { "subject_id": "HP:0009727", "predicate_id": "IAO:0000115", - "source_value": "Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina.", + "source_value": "Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disk diameter in size and tending to be located in the midperiphery of the retina.", "source_language": "en", "translation_value": "Oblasti s\u00edtnice bez pigmentace. Vyp\u00edchnut\u00e9 oblasti chorioretin\u00e1ln\u00ed hypopigmentace o velikosti men\u0161\u00ed ne\u017e 1 pr\u016fm\u011br disku, kter\u00e9 se nach\u00e1zej\u00ed sp\u00ed\u0161e ve st\u0159edn\u00ed \u010d\u00e1sti s\u00edtnice.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0009727", "predicate_id": "IAO:0000115", - "source_value": "Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina.", + "source_value": "Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disk diameter in size and tending to be located in the midperiphery of the retina.", "source_language": "en", "translation_value": "Pigmentasyonu eksik retina sahalar\u0131. Boyut olarak 1 disk \u00e7ap\u0131ndan daha az ve retinan\u0131n orta periferinde yer almaya meyilli delikli koryoretinal hipopigmentasyon sahalar\u0131", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0009727", @@ -540024,16 +540024,16 @@ { "subject_id": "HP:0009922", "predicate_id": "IAO:0000115", - "source_value": "Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth.", + "source_value": "Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth.", "source_language": "en", "translation_value": "M\u016f\u017ee p\u0159etrv\u00e1vat hyaloidn\u00ed tepna, co\u017e je embryon\u00e1ln\u00ed tepna, kter\u00e1 vede od disku zrakov\u00e9ho nervu k zadn\u00edmu pouzdru \u010do\u010dky; m\u00edsto \u00faponu m\u016f\u017ee tvo\u0159it z\u00e1kal. Hyaloidn\u00ed tepna je v\u011btv\u00ed oftalmick\u00e9 tepny a obvykle zcela regreduje p\u0159ed narozen\u00edm.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0009922", "predicate_id": "IAO:0000115", - "source_value": "Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth.", + "source_value": "Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth.", "source_language": "en", "translation_value": "\u015eeffaf arterin kal\u0131c\u0131l\u0131\u011f\u0131, buda arka mercek kaps\u00fcl\u00fcn\u00fcn optik diskten \u00e7al\u0131\u015ft\u0131r\u0131lan embriyonik arteri s\u00fcrd\u00fcrebilir; ba\u011fl\u0131l\u0131\u011f\u0131n yeri opakl\u0131k olu\u015fturabilir. \u015eeffaf arter g\u00f6zle ilgili arterin dal\u0131d\u0131r, ve genellikle do\u011fumdan \u00f6nce tamamen geri \u00e7ekilir", "translation_language": "tr", @@ -540042,44 +540042,44 @@ { "subject_id": "HP:0009922", "predicate_id": "rdfs:label", - "source_value": "Vascular remnant arising from the disc", + "source_value": "Vascular remnant arising from the disk", "source_language": "en", "translation_value": "Persistance de l'art\u00e8re hyalo\u00efde", "translation_language": "fr", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "comment": "label of HP:0009922 (Vascular remnant arising from the disc) ; abnormality of the eye" }, { "subject_id": "HP:0009922", "predicate_id": "rdfs:label", - "source_value": "Vascular remnant arising from the disc", + "source_value": "Vascular remnant arising from the disk", "source_language": "en", "translation_value": "C\u00e9vn\u00ed zbytek vych\u00e1zej\u00edc\u00ed z disku", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0009922", "predicate_id": "rdfs:label", - "source_value": "Vascular remnant arising from the disc", + "source_value": "Vascular remnant arising from the disk", "source_language": "en", "translation_value": "Diskten k\u00f6ken alan vask\u00fcler kal\u0131nt\u0131", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0009922", "predicate_id": "rdfs:label", - "source_value": "Vascular remnant arising from the disc", + "source_value": "Vascular remnant arising from the disk", "source_language": "en", "translation_value": "\u73bb\u7483\u4f53\u52a8\u8109\u7eed\u5b58\u75c7", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0009922", "predicate_id": "rdfs:label", - "source_value": "Vascular remnant arising from the disc", + "source_value": "Vascular remnant arising from the disk", "source_language": "en", "translation_value": "\u785d\u5b50\u4f53\u52d5\u8108\u907a\u6b8b", "translation_language": "ja", @@ -540087,17 +540087,17 @@ "translation_date": "2023-07-31", "translation_confidence": 1.0, "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0009922", "predicate_id": "rdfs:label", - "source_value": "Vascular remnant arising from the disc", + "source_value": "Vascular remnant arising from the disk", "source_language": "en", "translation_value": "Persistencia de la arteria hialoidea", "translation_language": "es", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0009924", @@ -563721,20 +563721,20 @@ { "subject_id": "HP:0010223", "predicate_id": "IAO:0000115", - "source_value": "The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.", + "source_value": "The normal epiphysis of the third metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.", "source_language": "en", "translation_value": "Norm\u00e1ln\u00ed epif\u00fdza t\u0159et\u00ed metakarp\u00e1ln\u00ed kosti je um\u00edstn\u011bn\u00e1 jejim dist\u00e1ln\u00edm konci. Tento term\u00edn se pou\u017eije v p\u0159\u00edpad\u011b p\u0159\u00edtomnosti akcesorn\u00ed epif\u00fdzy, kter\u00e1 je um\u00edstn\u011bn\u00e1 na proxim\u00e1ln\u00edm konci matakarp\u00e1ln\u00ed kosti", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0010223", "predicate_id": "IAO:0000115", - "source_value": "The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.", + "source_value": "The normal epiphysis of the third metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.", "source_language": "en", "translation_value": "\u00dc\u00e7\u00fcnc\u00fc metakarpalin normal epifizi metakarpal kemi\u011fin distal ucunda yerle\u015fmi\u015ftir. Bu terim e\u011fer metakarpal kemi\u011fin proksimal ucunda yer alan aksesuvar bir epifiz varl\u0131\u011f\u0131nda ge\u00e7erlidir", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0010223", @@ -563895,20 +563895,20 @@ { "subject_id": "HP:0010225", "predicate_id": "IAO:0000115", - "source_value": "The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.", + "source_value": "The normal epiphysis of the fourth metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.", "source_language": "en", "translation_value": "Norm\u00e1ln\u00ed epif\u00fdza \u010dtvrt\u00e9 metakarp\u00e1ln\u00ed kosti je um\u00edstn\u011bn\u00e1 jejim dist\u00e1ln\u00edm konci. Tento term\u00edn se pou\u017eije v p\u0159\u00edpad\u011b p\u0159\u00edtomnosti akcesorn\u00ed epif\u00fdzy, kter\u00e1 je um\u00edstn\u011bn\u00e1 na proxim\u00e1ln\u00edm konci matakarp\u00e1ln\u00ed kosti", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0010225", "predicate_id": "IAO:0000115", - "source_value": "The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.", + "source_value": "The normal epiphysis of the fourth metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.", "source_language": "en", "translation_value": "D\u00f6rd\u00fcnc\u00fc metakarpalin normal epifizi metakarpal kemi\u011fin distal ucunda yerle\u015fmi\u015ftir. Bu terim e\u011fer metakarpal kemi\u011fin proksimal ucunda yer alan aksesuvar bir epifiz varl\u0131\u011f\u0131nda ge\u00e7erlidir", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0010225", @@ -564069,20 +564069,20 @@ { "subject_id": "HP:0010227", "predicate_id": "IAO:0000115", - "source_value": "The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.", + "source_value": "The normal epiphysis of the fifth metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.", "source_language": "en", "translation_value": "Norm\u00e1ln\u00ed epif\u00fdza p\u00e1t\u00e9 metakarp\u00e1ln\u00ed kosti je um\u00edstn\u011bn\u00e1 jejim dist\u00e1ln\u00edm konci. Tento term\u00edn se pou\u017eije v p\u0159\u00edpad\u011b p\u0159\u00edtomnosti akcesorn\u00ed epif\u00fdzy, kter\u00e1 je um\u00edstn\u011bn\u00e1 na proxim\u00e1ln\u00edm konci matakarp\u00e1ln\u00ed kosti", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0010227", "predicate_id": "IAO:0000115", - "source_value": "The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.", + "source_value": "The normal epiphysis of the fifth metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.", "source_language": "en", "translation_value": "Be\u015finci metakarpalin normal epifizi metakarpal kemi\u011fin distal ucunda yerle\u015fmi\u015ftir. Bu terim e\u011fer metakarpal kemi\u011fin proksimal ucunda yer alan aksesuvar bir epifiz varl\u0131\u011f\u0131nda ge\u00e7erlidir", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0010227", @@ -592092,7 +592092,7 @@ { "subject_id": "HP:0010587", "predicate_id": "rdfs:label", - "source_value": "Triangular epiphyses", + "source_value": "Triangular epiphysis", "source_language": "en", "translation_value": "Driehoekige epifysen", "translation_language": "nl", @@ -592101,44 +592101,44 @@ { "subject_id": "HP:0010587", "predicate_id": "rdfs:label", - "source_value": "Triangular epiphyses", + "source_value": "Triangular epiphysis", "source_language": "en", "translation_value": "\u00c9piphyses triangulaires", "translation_language": "fr", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "comment": "label of HP:0010587 (Triangular epiphyses) ; abnormality of the skeletal system" }, { "subject_id": "HP:0010587", "predicate_id": "rdfs:label", - "source_value": "Triangular epiphyses", + "source_value": "Triangular epiphysis", "source_language": "en", "translation_value": "Troj\u00fahlen\u00edkov\u00e9 epif\u00fdzy", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0010587", "predicate_id": "rdfs:label", - "source_value": "Triangular epiphyses", + "source_value": "Triangular epiphysis", "source_language": "en", "translation_value": "\u00dc\u00e7gen epifizler", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0010587", "predicate_id": "rdfs:label", - "source_value": "Triangular epiphyses", + "source_value": "Triangular epiphysis", "source_language": "en", "translation_value": "\u4e09\u89d2\u5f62\u9aa8\u9aba", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0010587", "predicate_id": "rdfs:label", - "source_value": "Triangular epiphyses", + "source_value": "Triangular epiphysis", "source_language": "en", "translation_value": "\u4e09\u89d2\u5f62\u306e\u9aa8\u7aef", "translation_language": "ja", @@ -592146,17 +592146,17 @@ "translation_date": "2023-07-31", "translation_confidence": 1.0, "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0010587", "predicate_id": "rdfs:label", - "source_value": "Triangular epiphyses", + "source_value": "Triangular epiphysis", "source_language": "en", "translation_value": "Ep\u00edfisis triangulares", "translation_language": "es", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0010588", @@ -593343,20 +593343,20 @@ { "subject_id": "HP:0010603", "predicate_id": "IAO:0000115", - "source_value": "A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour.", + "source_value": "A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behavior.", "source_language": "en", "translation_value": "Bengn\u00ed, jedno \u010di v\u00edcecystick\u00fd intraose\u00e1ln\u00ed tumor odontogenn\u00edho p\u016fvodu, s charakteristick\u00fdm lemem parakeratinizovan\u00e9ho dla\u017edicov\u00e9ho epitelu a s potenci\u00e1lem k agresivn\u00edmu, infiltrativn\u00edmu r\u016fstu.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0010603", "predicate_id": "IAO:0000115", - "source_value": "A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour.", + "source_value": "A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behavior.", "source_language": "en", "translation_value": "Selim, tekli veya \u00e7oklu kistik, odontojenik k\u00f6kenli parakeratinize tabakalanm\u0131\u015f skuam\u00f6z epitelyum ve agresif, infiltratif davran\u0131\u015f potansiyelli kemik i\u00e7i bir t\u00fcm\u00f6r", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0010603", @@ -596283,7 +596283,7 @@ { "subject_id": "HP:0010640", "predicate_id": "rdfs:label", - "source_value": "Abnormality of the nasal cavity", + "source_value": "Abnormal nasal cavity morphology", "source_language": "en", "translation_value": "Afwijking van de neusholte", "translation_language": "nl", @@ -596292,44 +596292,44 @@ { "subject_id": "HP:0010640", "predicate_id": "rdfs:label", - "source_value": "Abnormality of the nasal cavity", + "source_value": "Abnormal nasal cavity morphology", "source_language": "en", "translation_value": "Anomalie de la fosse nasale", "translation_language": "fr", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "comment": "label of HP:0010640 (Abnormality of the nasal cavity) ; abnormality of head or neck" }, { "subject_id": "HP:0010640", "predicate_id": "rdfs:label", - "source_value": "Abnormality of the nasal cavity", + "source_value": "Abnormal nasal cavity morphology", "source_language": "en", "translation_value": "Abnormalita nosn\u00ed dutiny", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0010640", "predicate_id": "rdfs:label", - "source_value": "Abnormality of the nasal cavity", + "source_value": "Abnormal nasal cavity morphology", "source_language": "en", "translation_value": "Nazal kavite anormalli\u011fi", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0010640", "predicate_id": "rdfs:label", - "source_value": "Abnormality of the nasal cavity", + "source_value": "Abnormal nasal cavity morphology", "source_language": "en", "translation_value": "\u9f3b\u8154\u5f02\u5e38", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0010640", "predicate_id": "rdfs:label", - "source_value": "Abnormality of the nasal cavity", + "source_value": "Abnormal nasal cavity morphology", "source_language": "en", "translation_value": "\u9f3b\u8154\u306e\u7570\u5e38", "translation_language": "ja", @@ -596337,17 +596337,17 @@ "translation_date": "2023-07-31", "translation_confidence": 1.0, "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0010640", "predicate_id": "rdfs:label", - "source_value": "Abnormality of the nasal cavity", + "source_value": "Abnormal nasal cavity morphology", "source_language": "en", "translation_value": "Anomal\u00eda de la cavidad nasal", "translation_language": "es", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0010641", @@ -603673,20 +603673,20 @@ { "subject_id": "HP:0010733", "predicate_id": "IAO:0000115", - "source_value": "Naevus flammeus localised in the skin of the eyelid.", + "source_value": "Naevus flammeus localized in the skin of the eyelid.", "source_language": "en", "translation_value": "Nevus flammeus lokalizovan\u00fd na k\u016f\u017ei v\u00ed\u010dka", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0010733", "predicate_id": "IAO:0000115", - "source_value": "Naevus flammeus localised in the skin of the eyelid.", + "source_value": "Naevus flammeus localized in the skin of the eyelid.", "source_language": "en", "translation_value": "G\u00f6z kapa\u011f\u0131 derisinde yer alan nev\u00fcs flammeus", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0010733", @@ -610774,16 +610774,16 @@ { "subject_id": "HP:0010818", "predicate_id": "IAO:0000115", - "source_value": "A generalized tonic seizure is a type of generalized motor seizure characterised by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities.", + "source_value": "A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities.", "source_language": "en", "translation_value": "Generalizovan\u00fd tonick\u00fd z\u00e1chvat je typ generalizovan\u00e9ho motorick\u00e9ho z\u00e1chvatu charakterizovan\u00e9ho oboustrann\u00fdm ztuhnut\u00edm nebo elevac\u00ed kon\u010detin, \u010dasto se ztuhnut\u00edm krku bez n\u00e1sledn\u00e9 klonick\u00e9 f\u00e1ze. Tonick\u00e1 aktivita m\u016f\u017ee m\u00edt podobu trval\u00e9 abnorm\u00e1ln\u00ed polohy, a to bu\u010f v extenzi, nebo ve flexi, n\u011bkdy doprov\u00e1zen\u00e9 t\u0159esem kon\u010detin", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0010818", "predicate_id": "IAO:0000115", - "source_value": "A generalized tonic seizure is a type of generalized motor seizure characterised by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities.", + "source_value": "A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities.", "source_language": "en", "translation_value": "Bir ka\u00e7 saniyeden dakikalar i\u00e7inde sonlanan kas kas\u0131lmas\u0131nda uzam\u0131\u015f art\u0131\u015f ile olan genel n\u00f6betler", "translation_language": "tr", @@ -635150,7 +635150,7 @@ { "subject_id": "HP:0011112", "predicate_id": "rdfs:label", - "source_value": "Abnormality of serum cytokine level", + "source_value": "Abnormal circulating cytokine concentration", "source_language": "en", "translation_value": "Afwijking in serum cytokine niveau", "translation_language": "nl", @@ -635159,44 +635159,44 @@ { "subject_id": "HP:0011112", "predicate_id": "rdfs:label", - "source_value": "Abnormality of serum cytokine level", + "source_value": "Abnormal circulating cytokine concentration", "source_language": "en", "translation_value": "Anomalie du taux de cytokines s\u00e9riques", "translation_language": "fr", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "comment": "label of HP:0011112 (Abnormality of serum cytokine level) ; abnormality of the immune system" }, { "subject_id": "HP:0011112", "predicate_id": "rdfs:label", - "source_value": "Abnormality of serum cytokine level", + "source_value": "Abnormal circulating cytokine concentration", "source_language": "en", "translation_value": "Abnormalita hladiny s\u00e9rov\u00fdch cytokin\u016f", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0011112", "predicate_id": "rdfs:label", - "source_value": "Abnormality of serum cytokine level", + "source_value": "Abnormal circulating cytokine concentration", "source_language": "en", "translation_value": "Serum sitokin d\u00fczeyi anormalli\u011fi", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0011112", "predicate_id": "rdfs:label", - "source_value": "Abnormality of serum cytokine level", + "source_value": "Abnormal circulating cytokine concentration", "source_language": "en", "translation_value": "\u8840\u6e05\u7ec6\u80de\u56e0\u5b50\u6c34\u5e73\u5f02\u5e38", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0011112", "predicate_id": "rdfs:label", - "source_value": "Abnormality of serum cytokine level", + "source_value": "Abnormal circulating cytokine concentration", "source_language": "en", "translation_value": "\u8840\u6e05\u30b5\u30a4\u30c8\u30ab\u30a4\u30f3\u5024\u306e\u7570\u5e38", "translation_language": "ja", @@ -635204,17 +635204,17 @@ "translation_date": "2023-07-31", "translation_confidence": 1.0, "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0011112", "predicate_id": "rdfs:label", - "source_value": "Abnormality of serum cytokine level", + "source_value": "Abnormal circulating cytokine concentration", "source_language": "en", "translation_value": "Alteraci\u00f3n del nivel de citoquinas en suero", "translation_language": "es", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0011113", @@ -635411,7 +635411,7 @@ { "subject_id": "HP:0011115", "predicate_id": "rdfs:label", - "source_value": "Abnormality of chemokine secretion", + "source_value": "Abnormal circulating chemokine concentration", "source_language": "en", "translation_value": "Afwijking van chemokine secretie", "translation_language": "nl", @@ -635420,44 +635420,44 @@ { "subject_id": "HP:0011115", "predicate_id": "rdfs:label", - "source_value": "Abnormality of chemokine secretion", + "source_value": "Abnormal circulating chemokine concentration", "source_language": "en", "translation_value": "Anomalie de s\u00e9cr\u00e9tion des ch\u00e9mokines", "translation_language": "fr", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "comment": "label of HP:0011115 (Abnormality of chemokine secretion) ; abnormality of the immune system" }, { "subject_id": "HP:0011115", "predicate_id": "rdfs:label", - "source_value": "Abnormality of chemokine secretion", + "source_value": "Abnormal circulating chemokine concentration", "source_language": "en", "translation_value": "Abnormalita v sekreci chemokinu", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0011115", "predicate_id": "rdfs:label", - "source_value": "Abnormality of chemokine secretion", + "source_value": "Abnormal circulating chemokine concentration", "source_language": "en", "translation_value": "Kemokin sal\u0131n\u0131m\u0131 anormalli\u011fi", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0011115", "predicate_id": "rdfs:label", - "source_value": "Abnormality of chemokine secretion", + "source_value": "Abnormal circulating chemokine concentration", "source_language": "en", "translation_value": "\u8d8b\u5316\u56e0\u5b50\u5206\u6ccc\u5f02\u5e38", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0011115", "predicate_id": "rdfs:label", - "source_value": "Abnormality of chemokine secretion", + "source_value": "Abnormal circulating chemokine concentration", "source_language": "en", "translation_value": "\u30b1\u30e2\u30ab\u30a4\u30f3\u5206\u6ccc\u306e\u7570\u5e38", "translation_language": "ja", @@ -635465,40 +635465,40 @@ "translation_date": "2023-07-31", "translation_confidence": 1.0, "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0011115", "predicate_id": "rdfs:label", - "source_value": "Abnormality of chemokine secretion", + "source_value": "Abnormal circulating chemokine concentration", "source_language": "en", "translation_value": "Alteraci\u00f3n de la secreci\u00f3n de quimioquinas", "translation_language": "es", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0011116", "predicate_id": "IAO:0000115", - "source_value": "An abnormality in the production or cellular release of interferons (a class of cytokines).", + "source_value": "The concentration of an interferon is outside the limits of normal.", "source_language": "en", "translation_value": "Abnorm\u00e1ln\u00ed produkce nebo uvol\u0148ov\u00e1n\u00ed interferon\u016f (skupina cytokin\u016f) v bu\u0148k\u00e1ch", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0011116", "predicate_id": "IAO:0000115", - "source_value": "An abnormality in the production or cellular release of interferons (a class of cytokines).", + "source_value": "The concentration of an interferon is outside the limits of normal.", "source_language": "en", "translation_value": "\u0130nterferonlar\u0131n (bir sitokin s\u0131n\u0131f\u0131) \u00fcretiminde veya h\u00fccresel sal\u0131n\u0131m\u0131nda bir anormallik", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0011116", "predicate_id": "rdfs:label", - "source_value": "Abnormality of interferon secretion", + "source_value": "Abnormal circulating interferon concentration", "source_language": "en", "translation_value": "Afwijking van interferon secretie", "translation_language": "nl", @@ -635507,44 +635507,44 @@ { "subject_id": "HP:0011116", "predicate_id": "rdfs:label", - "source_value": "Abnormality of interferon secretion", + "source_value": "Abnormal circulating interferon concentration", "source_language": "en", "translation_value": "Anomalie de s\u00e9cr\u00e9tion des interf\u00e9rons", "translation_language": "fr", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "comment": "label of HP:0011116 (Abnormality of interferon secretion) ; abnormality of the immune system" }, { "subject_id": "HP:0011116", "predicate_id": "rdfs:label", - "source_value": "Abnormality of interferon secretion", + "source_value": "Abnormal circulating interferon concentration", "source_language": "en", "translation_value": "Abnormalita v sekreci interferonu", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0011116", "predicate_id": "rdfs:label", - "source_value": "Abnormality of interferon secretion", + "source_value": "Abnormal circulating interferon concentration", "source_language": "en", "translation_value": "\u0130nterferon sal\u0131n\u0131m\u0131 anormalli\u011fi", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0011116", "predicate_id": "rdfs:label", - "source_value": "Abnormality of interferon secretion", + "source_value": "Abnormal circulating interferon concentration", "source_language": "en", "translation_value": "\u5e72\u6270\u7d20\u5206\u6ccc\u5f02\u5e38", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0011116", "predicate_id": "rdfs:label", - "source_value": "Abnormality of interferon secretion", + "source_value": "Abnormal circulating interferon concentration", "source_language": "en", "translation_value": "\u30a4\u30f3\u30bf\u30fc\u30d5\u30a7\u30ed\u30f3\u5206\u6ccc\u306e\u7570\u5e38", "translation_language": "ja", @@ -635552,40 +635552,40 @@ "translation_date": "2023-07-31", "translation_confidence": 1.0, "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0011116", "predicate_id": "rdfs:label", - "source_value": "Abnormality of interferon secretion", + "source_value": "Abnormal circulating interferon concentration", "source_language": "en", "translation_value": "Alteraci\u00f3n de la secreci\u00f3n de interfer\u00f3n", "translation_language": "es", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0011117", "predicate_id": "IAO:0000115", - "source_value": "An abnormality in the production or cellular release of interleukins (a class of cytokines).", + "source_value": "The concentration of an interleukin (a class of cytokines) is outside the limits of normal.", "source_language": "en", "translation_value": "Abnorm\u00e1ln\u00ed produkce nebo uvol\u0148ov\u00e1n\u00ed interleukin\u016f (skupina cytokin\u016f) v bu\u0148k\u00e1ch", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0011117", "predicate_id": "IAO:0000115", - "source_value": "An abnormality in the production or cellular release of interleukins (a class of cytokines).", + "source_value": "The concentration of an interleukin (a class of cytokines) is outside the limits of normal.", "source_language": "en", "translation_value": "\u0130nterl\u00f6kinlerin (bir sitokin s\u0131n\u0131f\u0131) \u00fcretiminde veya h\u00fccresel sal\u0131n\u0131m\u0131nda anormallik", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0011117", "predicate_id": "rdfs:label", - "source_value": "Abnormality of interleukin secretion", + "source_value": "Abnormal circulating interleukin concentration", "source_language": "en", "translation_value": "Afwijking van interleukine secretie", "translation_language": "nl", @@ -635594,44 +635594,44 @@ { "subject_id": "HP:0011117", "predicate_id": "rdfs:label", - "source_value": "Abnormality of interleukin secretion", + "source_value": "Abnormal circulating interleukin concentration", "source_language": "en", "translation_value": "Anomalie de s\u00e9cr\u00e9tion des interleukines", "translation_language": "fr", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "comment": "label of HP:0011117 (Abnormality of interleukin secretion) ; abnormality of the immune system" }, { "subject_id": "HP:0011117", "predicate_id": "rdfs:label", - "source_value": "Abnormality of interleukin secretion", + "source_value": "Abnormal circulating interleukin concentration", "source_language": "en", "translation_value": "Abnormalita sekrece interleukinu", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0011117", "predicate_id": "rdfs:label", - "source_value": "Abnormality of interleukin secretion", + "source_value": "Abnormal circulating interleukin concentration", "source_language": "en", "translation_value": "\u0130nterl\u00f6kin sal\u0131n\u0131m\u0131 anormalli\u011fi", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0011117", "predicate_id": "rdfs:label", - "source_value": "Abnormality of interleukin secretion", + "source_value": "Abnormal circulating interleukin concentration", "source_language": "en", "translation_value": "\u767d\u4ecb\u7d20\u5206\u6ccc\u5f02\u5e38", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0011117", "predicate_id": "rdfs:label", - "source_value": "Abnormality of interleukin secretion", + "source_value": "Abnormal circulating interleukin concentration", "source_language": "en", "translation_value": "\u30a4\u30f3\u30bf\u30fc\u30ed\u30a4\u30ad\u30f3\u5206\u6ccc\u306e\u7570\u5e38", "translation_language": "ja", @@ -635639,17 +635639,17 @@ "translation_date": "2023-07-31", "translation_confidence": 1.0, "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0011117", "predicate_id": "rdfs:label", - "source_value": "Abnormality of interleukin secretion", + "source_value": "Abnormal circulating interleukin concentration", "source_language": "en", "translation_value": "Alteraci\u00f3n de la secreci\u00f3n de interleuquina", "translation_language": "es", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0011118", @@ -638099,7 +638099,7 @@ { "subject_id": "HP:0011146", "predicate_id": "IAO:0000115", - "source_value": "A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event.", + "source_value": "A dialeptic seizure is a type of seizure characterized predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event.", "source_language": "en", "translation_value": "Dialeptick\u00fd z\u00e1chvat je typ z\u00e1chvatu charakterizovan\u00fd p\u0159ev\u00e1\u017en\u011b sn\u00ed\u017eenou reaktivitou nebo poruchou v\u011bdom\u00ed s n\u00e1slednou alespo\u0148 \u010d\u00e1ste\u010dnou amn\u00e9zi\u00ed na ud\u00e1lost.", "translation_language": "cs", @@ -638149,7 +638149,7 @@ { "subject_id": "HP:0011147", "predicate_id": "IAO:0000115", - "source_value": "A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event.", + "source_value": "A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event.", "source_language": "en", "translation_value": "Fok\u00e1ln\u00ed motorick\u00e9 z\u00e1chvaty", "translation_language": "cs", @@ -638158,7 +638158,7 @@ { "subject_id": "HP:0011147", "predicate_id": "IAO:0000115", - "source_value": "A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event.", + "source_value": "A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event.", "source_language": "en", "translation_value": "Tipik absanslar ani ba\u015flang\u0131\u00e7l\u0131 ve ani biti\u015fli bilin\u00e7 bozuklu\u011funun saniyeler kadar k\u0131sa s\u00fcrd\u00fc\u011f\u00fc generalize epileptik n\u00f6betlerdir", "translation_language": "tr", @@ -638259,7 +638259,7 @@ { "subject_id": "HP:0011149", "predicate_id": "IAO:0000115", - "source_value": "An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterised by forced upward jerking of the eyelids during an absence seizure.", + "source_value": "An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterized by forced upward jerking of the eyelids during an absence seizure.", "source_language": "en", "translation_value": "Absen\u010dn\u00ed z\u00e1chvaty doprov\u00e1zen\u00e9 kr\u00e1tk\u00fdmi, opakuj\u00edc\u00edmi se, \u010dasto rytmick\u00fdmi, rychl\u00fdmi (4-6 Hz) myoklonick\u00fdmi z\u00e1\u0161kuby o\u010dn\u00edch v\u00ed\u010dek se sou\u010dasn\u00fdm vych\u00fdlen\u00edm o\u010dn\u00edch bulb\u016f nahoru a extenz\u00ed hlavy. Z\u00e1chvaty jsou obvykle velmi kr\u00e1tk\u00e9 (trv\u00e1n\u00ed m\u00e9n\u011b ne\u017e 6 sekund) a v\u00edcen\u00e1sobn\u00e9 z\u00e1chvaty se vyskytuj\u00ed denn\u011b. V\u011bdom\u00ed je v\u011bt\u0161inou zachov\u00e1no.", "translation_language": "cs", @@ -638268,7 +638268,7 @@ { "subject_id": "HP:0011149", "predicate_id": "IAO:0000115", - "source_value": "An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterised by forced upward jerking of the eyelids during an absence seizure.", + "source_value": "An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterized by forced upward jerking of the eyelids during an absence seizure.", "source_language": "en", "translation_value": "Ek olarak g\u00f6z kapa\u011f\u0131 myoklonisi ile karakterize absans n\u00f6betleri", "translation_language": "tr", @@ -638346,7 +638346,7 @@ { "subject_id": "HP:0011150", "predicate_id": "IAO:0000115", - "source_value": "Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterised by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017.", + "source_value": "Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterized by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017.", "source_language": "en", "translation_value": "Rytmick\u00e9 myoklonick\u00e9 z\u00e1\u0161kuby ramen a pa\u017e\u00ed s tonickou abdukc\u00ed, kter\u00e9 vedou k postupn\u00e9mu zved\u00e1n\u00ed pa\u017e\u00ed b\u011bhem z\u00e1chvatu. Myoklonick\u00e9 z\u00e1\u0161kuby jsou typicky oboustrann\u00e9, ale mohou b\u00fdt i jednostrann\u00e9 nebo asymetrick\u00e9. Perior\u00e1ln\u00ed myoklonie a rytmick\u00e9 z\u00e1\u0161kuby hlavy se mohou rovn\u011b\u017e objevit. K\u0159e\u010de trvaj\u00ed 10-60 a typicky se objevuj\u00ed denn\u011b (ve dne?). K\u0159e\u010de doprov\u00e1z\u00ed porucha pozornosti r\u016fzn\u00e9 z\u00e1va\u017enosti od kompletn\u00ed ztr\u00e1ty po zachovanou pozornost", "translation_language": "cs", @@ -638355,7 +638355,7 @@ { "subject_id": "HP:0011150", "predicate_id": "IAO:0000115", - "source_value": "Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterised by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017.", + "source_value": "Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterized by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017.", "source_language": "en", "translation_value": "Kollar\u0131n ve omuzlar\u0131n EEG bo\u015fal\u0131mlar\u0131 ile senkronize oldu\u011fu, kollar\u0131n ek tonik bile\u015fenleri ile olan ek olarak ritmik bilateral myoklonus ile karakterize olan absans n\u00f6betleri", "translation_language": "tr", @@ -639021,7 +639021,7 @@ { "subject_id": "HP:0011159", "predicate_id": "IAO:0000115", - "source_value": "A type of focal autonomic seizure characterised by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature.", + "source_value": "A type of focal autonomic seizure characterized by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature.", "source_language": "en", "translation_value": "Aury s b\u0159i\u0161n\u00edm diskomfortem v\u010detn\u011b evolnosti, pocitu pr\u00e1zdnoty, t\u011bsnosti, kru\u010den\u00ed, mot\u00fdl\u016f v b\u0159i\u0161e, mal\u00e1tnosti, bolesti a hladu, pocit se m\u016f\u017ee propagovat do hrudn\u00edku nebo hrdla. N\u011bkter\u00e9 jevy mohou odr\u00e1\u017eet ikt\u00e1ln\u00ed autonomn\u00ed dysfunkci", "translation_language": "cs", @@ -639030,7 +639030,7 @@ { "subject_id": "HP:0011159", "predicate_id": "IAO:0000115", - "source_value": "A type of focal autonomic seizure characterised by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature.", + "source_value": "A type of focal autonomic seizure characterized by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature.", "source_language": "en", "translation_value": "Bulant\u0131, bo\u015fluk, s\u0131k\u0131l\u0131k, \u00e7alkalama, kelebekler, bitkinlik, a\u011fr\u0131 ve a\u00e7l\u0131k dahil hissin g\u00f6\u011f\u00fcse veya bo\u011faza y\u00fckselebildi\u011fi abdominal rahats\u0131zl\u0131k ile olan auralar. Baz\u0131 fenomenler iktal otonomik disfonksiyonu yans\u0131tabilir", "translation_language": "tr", @@ -639435,7 +639435,7 @@ { "subject_id": "HP:0011165", "predicate_id": "IAO:0000115", - "source_value": "A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation.", + "source_value": "A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation.", "source_language": "en", "translation_value": "Aury s pocitem blik\u00e1n\u00ed nebo blikaj\u00edc\u00edch sv\u011btel, skvrn, jednoduch\u00fdch vzor\u016f, skotom\u016f nebo amaur\u00f3zy", "translation_language": "cs", @@ -639444,7 +639444,7 @@ { "subject_id": "HP:0011165", "predicate_id": "IAO:0000115", - "source_value": "A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation.", + "source_value": "A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation.", "source_language": "en", "translation_value": "I\u015f\u0131k \u00e7akmas\u0131 veya parlamas\u0131, noktalar, basit paternler, skotoma veya amorozis hisli auralar", "translation_language": "tr", @@ -639774,7 +639774,7 @@ { "subject_id": "HP:0011169", "predicate_id": "IAO:0000115", - "source_value": "Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups.", + "source_value": "Generalized clonic seizure is a type of generalized motor seizure characterized by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups.", "source_language": "en", "translation_value": "Z\u00e1chvaty s pravideln\u011b se opakuj\u00edc\u00edm myoklonusem, zahrnuj\u00edc\u00edm stejn\u00e9 svalov\u00e9 skupiny, s frekvenc\u00ed asi 2-3 c/sec.", "translation_language": "cs", @@ -639783,7 +639783,7 @@ { "subject_id": "HP:0011169", "predicate_id": "IAO:0000115", - "source_value": "Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups.", + "source_value": "Generalized clonic seizure is a type of generalized motor seizure characterized by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups.", "source_language": "en", "translation_value": "2-3 d\u00f6ng\u00fc/saniye frekansta ayn\u0131 kas gruplar\u0131n\u0131 i\u00e7eren d\u00fczenli tekrar eden myoklonuslu n\u00f6betler", "translation_language": "tr", @@ -640296,7 +640296,7 @@ { "subject_id": "HP:0011175", "predicate_id": "IAO:0000115", - "source_value": "A type of focal motor seizure characterised by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation.", + "source_value": "A type of focal motor seizure characterized by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation.", "source_language": "en", "translation_value": "Tonick\u00e9 z\u00e1chvaty s trvalou, nucen\u011b konjugovanou rotac\u00ed oka, hlavy a/nebo trupu nebo later\u00e1ln\u00ed odchylkou od st\u0159edn\u00ed linie.", "translation_language": "cs", @@ -640305,7 +640305,7 @@ { "subject_id": "HP:0011175", "predicate_id": "IAO:0000115", - "source_value": "A type of focal motor seizure characterised by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation.", + "source_value": "A type of focal motor seizure characterized by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation.", "source_language": "en", "translation_value": "Uzam\u0131\u015f, zorlanm\u0131\u015f konjuge ok\u00fcler, sefalik ve/veya trunkal rotasyon veya orta hattan lateral deviasyon ile olan tonik n\u00f6betler", "translation_language": "tr", @@ -655779,20 +655779,20 @@ { "subject_id": "HP:0011359", "predicate_id": "IAO:0000115", - "source_value": "Hair that lacks the lustre (shine or gleam) of normal hair.", + "source_value": "Hair that lacks the luster (shine or gleam) of normal hair.", "source_language": "en", "translation_value": "Vlasy, kter\u00e9 postr\u00e1daj\u00ed lesk norm\u00e1ln\u00edch vlas\u016f.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0011359", "predicate_id": "IAO:0000115", - "source_value": "Hair that lacks the lustre (shine or gleam) of normal hair.", + "source_value": "Hair that lacks the luster (shine or gleam) of normal hair.", "source_language": "en", "translation_value": "Normal sa\u00e7 par\u0131lt\u0131s\u0131 (parlakl\u0131k veya \u0131\u015f\u0131lt\u0131) eksik olan sa\u00e7", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0011359", @@ -660114,20 +660114,20 @@ { "subject_id": "HP:0011412", "predicate_id": "IAO:0000115", - "source_value": "Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately.", + "source_value": "Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labor has not progressed adequately.", "source_language": "en", "translation_value": "Porod novorozence pomoc\u00ed vakuov\u00e9 pumpy, kter\u00e1 se pou\u017e\u00edv\u00e1 k asistovan\u00e9mu porodu v p\u0159\u00edpad\u011b, \u017ee druh\u00e1 doba porodn\u00ed dostate\u010dn\u011b nepostupuje.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0011412", "predicate_id": "IAO:0000115", - "source_value": "Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately.", + "source_value": "Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labor has not progressed adequately.", "source_language": "en", "translation_value": "Do\u011fumun ikinci evresi uygun \u015fekilde ilerlemedi\u011fi zaman do\u011fumu asiste etmek i\u00e7in kullan\u0131lan bir vakum cihaz\u0131 olan vantuz arac\u0131l\u0131\u011f\u0131 ile yenido\u011fan\u0131n do\u011fumu", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0011412", @@ -700025,20 +700025,20 @@ { "subject_id": "HP:0011891", "predicate_id": "IAO:0000115", - "source_value": "Significant maternal haemorrhage/blood loss following deilvery of a child.", + "source_value": "Significant maternal hemorrhage/blood loss following deilvery of a child.", "source_language": "en", "translation_value": "V\u00fdznamn\u00e9 krv\u00e1cen\u00ed \u010di krevn\u00ed zt\u00e1rta u matky po porodu", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0011891", "predicate_id": "IAO:0000115", - "source_value": "Significant maternal haemorrhage/blood loss following deilvery of a child.", + "source_value": "Significant maternal hemorrhage/blood loss following deilvery of a child.", "source_language": "en", "translation_value": "Do\u011fumu takiben \u00f6nemli maternal hemoraji/kan kayb\u0131", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0011891", @@ -705548,16 +705548,16 @@ { "subject_id": "HP:0011956", "predicate_id": "IAO:0000115", - "source_value": "A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine.", + "source_value": "A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centers are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centers; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine.", "source_language": "en", "translation_value": "Lymfoproliferativn\u00ed abnormalita st\u0159eva charakterizovan\u00e1 \u010detn\u00fdmi viditeln\u00fdmi slizni\u010dn\u00edmi uzl\u00edky o pr\u016fm\u011bru do 0,5 cm a z\u0159\u00eddka p\u0159esahuj\u00edc\u00edmi tento pr\u016fm\u011br. Histologicky jsou v lamina propria a povrchov\u00e9 submuk\u00f3ze patrn\u00e9 hyperplastick\u00e9 lymfoidn\u00ed folikuly s velk\u00fdmi z\u00e1rode\u010dn\u00fdmi centry. Doch\u00e1z\u00ed ke zv\u011bt\u0161en\u00ed slizni\u010dn\u00edch B-bun\u011b\u010dn\u00fdch folikul\u016f zp\u016fsoben\u00e9mu hyperpl\u00e1zi\u00ed folikul\u00e1rn\u00edch center. Jsou obklopeny norm\u00e1ln\u011b vypadaj\u00edc\u00ed pl\u00e1\u0161\u0165ovou z\u00f3nou. Onemocn\u011bn\u00ed m\u016f\u017ee postihnout \u017ealudek, cel\u00e9 tenk\u00e9 st\u0159evo a tlust\u00e9 st\u0159evo.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0011956", "predicate_id": "IAO:0000115", - "source_value": "A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine.", + "source_value": "A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centers are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centers; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine.", "source_language": "en", "translation_value": "Ba\u011f\u0131rsa\u011f\u0131n lenfoproliferatif anormalli\u011fi, nadiren \u00e7ap\u0131 0.5 cm'yi a\u015fan \u00e7ok say\u0131da g\u00f6r\u00fcn\u00fcr mukozal nod\u00fcl ile karakterizedir Histolojik olarak, b\u00fcy\u00fck germinal merkezli hiperplastik lenfoid follik\u00fcller, lamina propriada y\u00fczeyel submukozada g\u00f6r\u00fcl\u00fcr. Folik\u00fcl merkezlerinin hiperplazisi nedeniyle mukozal B h\u00fccreli follik\u00fcllerin geni\u015flemesi s\u00f6z konusudur; normal g\u00f6r\u00fcnen bir manto b\u00f6lgesi ile \u00e7evrili. Hastal\u0131k, mideyi, t\u00fcm ince ba\u011f\u0131rsaklar\u0131 ve kal\u0131n ba\u011f\u0131rsa\u011f\u0131 etkileyebilir", "translation_language": "tr", @@ -714461,16 +714461,16 @@ { "subject_id": "HP:0012060", "predicate_id": "IAO:0000115", - "source_value": "A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed.", + "source_value": "A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discolored skin and usually displays a size above 6 mm and often several centimeters or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed.", "source_language": "en", "translation_value": "Typ ko\u017en\u00edho melanomu lokalizovan\u00e9ho na dlani, chodidle nebo pod nehtem (subungv\u00e1ln\u00ed melanom). Akr\u00e1ln\u00ed lentigin\u00f3zn\u00ed melanom za\u010d\u00edn\u00e1 jako pomalu se zv\u011bt\u0161uj\u00edc\u00ed ploch\u00e1 skvrna odbarven\u00e9 k\u016f\u017ee a obvykle vykazuje velikost nad 6 mm a \u010dasto n\u011bkolik centimetr\u016f nebo v\u00edce v pr\u016fm\u011bru po diagn\u00f3ze a variabiln\u00ed pigmentaci se sm\u011bs\u00ed barev v\u010detn\u011b hn\u011bd\u00e9, modro\u0161ed\u00e9, \u010dern\u00e9 a \u010derven\u00e9. Povrch l\u00e9ze je zpo\u010d\u00e1tku hladk\u00fd, ale pozd\u011bji se m\u016f\u017ee st\u00e1t siln\u011bj\u0161\u00ed a nepravideln\u00fd a m\u016f\u017ee ulcerovat nebo krv\u00e1cet", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0012060", "predicate_id": "IAO:0000115", - "source_value": "A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed.", + "source_value": "A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discolored skin and usually displays a size above 6 mm and often several centimeters or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed.", "source_language": "en", "translation_value": "Avu\u00e7 i\u00e7ine, ayak taban\u0131na veya t\u0131rnak alt\u0131na yerle\u015fen bir kutan\u00f6z melanom t\u00fcr\u00fc (subungual melanoma). Akral desenli melanom, yava\u015f yava\u015f b\u00fcy\u00fcyen, renksiz bir cilt yass\u0131 leke olarak ba\u015flar ve genellikle kahverengi, mavi-gri, siyah ve k\u0131rm\u0131z\u0131 tonlar\u0131 i\u00e7eren bir renk kar\u0131\u015f\u0131m\u0131 de\u011fi\u015fken pigmentasyon ve tan\u0131ya g\u00f6re \u00e7ap\u0131 6 mm'nin \u00fczerinde ve \u00e7o\u011funlukla birka\u00e7 santimetre veya daha fazla bir boyut g\u00f6sterir. Lezyonun y\u00fczeyi ba\u015flang\u0131\u00e7ta p\u00fcr\u00fczs\u00fczd\u00fcr, ancak ilerleyen k\u0131s\u0131mda daha kal\u0131n ve d\u00fczensiz olabilir ve \u00fclsere d\u00f6n\u00fc\u015febilir veya kanayabilir", "translation_language": "tr", @@ -720342,20 +720342,20 @@ { "subject_id": "HP:0012128", "predicate_id": "IAO:0000115", - "source_value": "Death of cells in the basal ganglia.", + "source_value": "Death of cells in the basal ganglia. This finding can be confirmed by autopsy. It can be suspected with hyperintensities within the basal ganglia on FLAIR and T2-sequences on magnetic resonance imaging.", "source_language": "en", "translation_value": "Od\u00famrt\u00ed bun\u011bk baz\u00e1ln\u00edch gangli\u00ed", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0012128", "predicate_id": "IAO:0000115", - "source_value": "Death of cells in the basal ganglia.", + "source_value": "Death of cells in the basal ganglia. This finding can be confirmed by autopsy. It can be suspected with hyperintensities within the basal ganglia on FLAIR and T2-sequences on magnetic resonance imaging.", "source_language": "en", "translation_value": "Bazal gangliyada h\u00fccrelerin \u00f6l\u00fcmleri", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0012128", @@ -750864,20 +750864,20 @@ { "subject_id": "HP:0012490", "predicate_id": "IAO:0000115", - "source_value": "Inflammation of adipose tissue.", + "source_value": "Inflammation of subcutaneous adipose tissue.", "source_language": "en", "translation_value": "Z\u00e1n\u011bt tukov\u00e9 tk\u00e1n\u011b", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0012490", "predicate_id": "IAO:0000115", - "source_value": "Inflammation of adipose tissue.", + "source_value": "Inflammation of subcutaneous adipose tissue.", "source_language": "en", "translation_value": "Adipoz doku inflamasyonu", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0012490", @@ -753213,16 +753213,16 @@ { "subject_id": "HP:0012517", "predicate_id": "IAO:0000115", - "source_value": "An abnormally decreased amount of catalase level.", + "source_value": "Activity or concentration of catalase in the blood circulation below the lower limit of normal.", "source_language": "en", "translation_value": "Abnorm\u00e1ln\u011b sn\u00ed\u017een\u00e9 mno\u017estv\u00ed hladiny katal\u00e1zy", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0012517", "predicate_id": "IAO:0000115", - "source_value": "An abnormally decreased amount of catalase level.", + "source_value": "Activity or concentration of catalase in the blood circulation below the lower limit of normal.", "source_language": "en", "translation_value": "Anormal olarak azalm\u0131\u015f miktarda katalaz aktivitesi", "translation_language": "tr", @@ -753231,7 +753231,7 @@ { "subject_id": "HP:0012517", "predicate_id": "rdfs:label", - "source_value": "Reduced catalase level", + "source_value": "Reduced circulating catalase activity", "source_language": "en", "translation_value": "Verminderde katalase activiteit", "translation_language": "nl", @@ -753240,7 +753240,7 @@ { "subject_id": "HP:0012517", "predicate_id": "rdfs:label", - "source_value": "Reduced catalase level", + "source_value": "Reduced circulating catalase activity", "source_language": "en", "translation_value": "Activit\u00e9 r\u00e9duite de la catalase", "translation_language": "fr", @@ -753250,16 +753250,16 @@ { "subject_id": "HP:0012517", "predicate_id": "rdfs:label", - "source_value": "Reduced catalase level", + "source_value": "Reduced circulating catalase activity", "source_language": "en", "translation_value": "Sn\u00ed\u017een\u00e1 hladina katal\u00e1zy", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0012517", "predicate_id": "rdfs:label", - "source_value": "Reduced catalase level", + "source_value": "Reduced circulating catalase activity", "source_language": "en", "translation_value": "Azalm\u0131\u015f katalaz aktivitesi", "translation_language": "tr", @@ -753268,16 +753268,16 @@ { "subject_id": "HP:0012517", "predicate_id": "rdfs:label", - "source_value": "Reduced catalase level", + "source_value": "Reduced circulating catalase activity", "source_language": "en", "translation_value": "\u8fc7\u6c27\u5316\u6c22\u9176\u6d3b\u6027\u964d\u4f4e", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0012517", "predicate_id": "rdfs:label", - "source_value": "Reduced catalase level", + "source_value": "Reduced circulating catalase activity", "source_language": "en", "translation_value": "\u30ab\u30bf\u30e9\u30fc\u30bc\u6d3b\u6027\u6e1b\u5c11", "translation_language": "ja", @@ -753285,13 +753285,13 @@ "translation_date": "2023-07-31", "translation_confidence": 1.0, "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0012517", "predicate_id": "rdfs:label", - "source_value": "Reduced catalase level", + "source_value": "Reduced circulating catalase activity", "source_language": "en", "translation_value": "Disminuci\u00f3n de la actividad de la catalasa", "translation_language": "es", @@ -753996,20 +753996,20 @@ { "subject_id": "HP:0012526", "predicate_id": "IAO:0000115", - "source_value": "A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears.", + "source_value": "A lack of platelet alpha granules. This typically results in the gray appearance of platelets in giemsa stained blood smears.", "source_language": "en", "translation_value": "Nedostatek alfa granul\u00ed krevn\u00edch desti\u010dek. To obvykle vede k \u0161ed\u00e9mu vzhledu krevn\u00edch desti\u010dek v krevn\u00edch n\u00e1t\u011brech obarven\u00fdch giemsou.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0012526", "predicate_id": "IAO:0000115", - "source_value": "A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears.", + "source_value": "A lack of platelet alpha granules. This typically results in the gray appearance of platelets in giemsa stained blood smears.", "source_language": "en", "translation_value": "Platelet alfa gran\u00fcllerinin yoklu\u011fu. Bu tipik olarak plateletlerin giemsa boyal\u0131 kan s\u00fcr\u00fcnt\u00fcs\u00fcnde gri g\u00f6z\u00fckmesi ile sonu\u00e7lan\u0131r", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0012526", @@ -777299,16 +777299,16 @@ { "subject_id": "HP:0012796", "predicate_id": "IAO:0000115", - "source_value": "An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells.", + "source_value": "An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disk. The optic disc has an orange-pink rim with a pale center (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells.", "source_language": "en", "translation_value": "Zv\u00fd\u0161en\u00ed pom\u011bru pr\u016fm\u011bru poh\u00e1rku o\u010dn\u00edho disku k celkov\u00e9mu pr\u016fm\u011bru disku. Disk zrakov\u00e9ho nervu m\u00e1 oran\u017eov\u011b r\u016f\u017eov\u00fd okraj se sv\u011btl\u00fdm st\u0159edem (poh\u00e1rek), kter\u00fd neobsahuje neuroretin\u00e1ln\u00ed tk\u00e1\u0148. Zv\u00fd\u0161en\u00ed tohoto pom\u011bru m\u016f\u017ee znamenat sn\u00ed\u017een\u00ed mno\u017estv\u00ed zdrav\u00fdch neuroretin\u00e1ln\u00edch bun\u011bk.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0012796", "predicate_id": "IAO:0000115", - "source_value": "An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells.", + "source_value": "An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disk. The optic disc has an orange-pink rim with a pale center (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells.", "source_language": "en", "translation_value": "Optik disk \u00e7ukurlu\u011funun \u00e7ap\u0131n\u0131n diskin toplam \u00e7ap\u0131na oran\u0131ndaki y\u00fckselme. Optik diskte, n\u00f6roretinal doku i\u00e7ermeyen, soluk bir merkezi (\u00e7ukurlu\u011fu) olan turuncu-pembe bir \u00e7er\u00e7eve bulunur. Bu orandaki art\u0131\u015f, sa\u011fl\u0131kl\u0131 n\u00f6roretinal h\u00fccrelerin miktar\u0131nda bir d\u00fc\u015f\u00fc\u015f oldu\u011funu g\u00f6sterebilir", "translation_language": "tr", @@ -787171,20 +787171,20 @@ { "subject_id": "HP:0020042", "predicate_id": "IAO:0000115", - "source_value": "An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye.", + "source_value": "An ocular movement abnormality characterized by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye.", "source_language": "en", "translation_value": "Abnormaln\u00ed pohyb o\u010d\u00ed charakterizovan\u00fd sou\u010dasnou slabost\u00ed musculus rectus inferior a musculus obliquus superior t\u00e9ho\u017e oka.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0020042", "predicate_id": "IAO:0000115", - "source_value": "An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye.", + "source_value": "An ocular movement abnormality characterized by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye.", "source_language": "en", "translation_value": "Ayn\u0131 g\u00f6z\u00fcn inferior rektus kas\u0131n\u0131n ve superior oblik kas\u0131n\u0131n e\u015f zamanl\u0131 zay\u0131fl\u0131\u011f\u0131 ile karakterize bir ok\u00fcler hareket anormalli\u011fi", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0020042", @@ -788371,7 +788371,7 @@ { "subject_id": "HP:0020063", "predicate_id": "IAO:0000115", - "source_value": "An abnormal elevation above normal hemoglobin concentration in the circulation.", + "source_value": "An abnormal elevation above normal hemoglobin concentration in the circulation", "source_language": "en", "translation_value": "Abnorm\u00e1ln\u00ed zv\u00fd\u0161en\u00ed koncentrace hemoglobinu v ob\u011bhu nad norm\u00e1ln\u00ed hodnoty", "translation_language": "cs", @@ -788380,7 +788380,7 @@ { "subject_id": "HP:0020063", "predicate_id": "IAO:0000115", - "source_value": "An abnormal elevation above normal hemoglobin concentration in the circulation.", + "source_value": "An abnormal elevation above normal hemoglobin concentration in the circulation", "source_language": "en", "translation_value": "Dola\u015f\u0131mda normal hemoglobin konsantrasyonu \u00fcst\u00fcne anormal bir y\u00fckselme", "translation_language": "tr", @@ -788389,61 +788389,61 @@ { "subject_id": "HP:0020063", "predicate_id": "rdfs:label", - "source_value": "Increased hemoglobin concentration", + "source_value": "obsolete Increased hemoglobin concentration", "source_language": "en", "translation_value": "Augmentation de la concentration d'h\u00e9moglobine", "translation_language": "fr", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "comment": "label of HP:0020063 (Increased hemoglobin concentration) ; abnormality of blood and blood-forming tissues" }, { "subject_id": "HP:0020063", "predicate_id": "rdfs:label", - "source_value": "Increased hemoglobin concentration", + "source_value": "obsolete Increased hemoglobin concentration", "source_language": "en", "translation_value": "Zv\u00fd\u0161en\u00e1 koncentrace hemoglobinu", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0020063", "predicate_id": "rdfs:label", - "source_value": "Increased hemoglobin concentration", + "source_value": "obsolete Increased hemoglobin concentration", "source_language": "en", "translation_value": "Artm\u0131\u015f hemoglobin konsantrasyonu", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0020063", "predicate_id": "rdfs:label", - "source_value": "Increased hemoglobin concentration", + "source_value": "obsolete Increased hemoglobin concentration", "source_language": "en", "translation_value": "\u8840\u7ea2\u86cb\u767d\u6d53\u5ea6\u589e\u9ad8", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0020063", "predicate_id": "rdfs:label", - "source_value": "Increased hemoglobin concentration", + "source_value": "obsolete Increased hemoglobin concentration", "source_language": "en", "translation_value": "\u30d8\u30e2\u30b0\u30ed\u30d3\u30f3\u6fc3\u5ea6\u306e\u4e0a\u6607", "translation_language": "ja", "source_version": "http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl", "translation_date": "2023-07-31", "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0020063", "predicate_id": "rdfs:label", - "source_value": "Increased hemoglobin concentration", + "source_value": "obsolete Increased hemoglobin concentration", "source_language": "en", "translation_value": "Aumento de la concentraci\u00f3n de hemoglobina.", "translation_language": "es", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0020064", @@ -790003,7 +790003,7 @@ { "subject_id": "HP:0020102", "predicate_id": "IAO:0000115", - "source_value": "An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnoea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing.", + "source_value": "An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing.", "source_language": "en", "translation_value": "Oportunn\u00ed onemocn\u011bn\u00ed zp\u016fsoben\u00e9 invaz\u00ed jednobun\u011b\u010dn\u00e9 houby Pneumocystis jirovecii. K p\u0159enosu cyst P. jirovecii doch\u00e1z\u00ed vzdu\u0161nou cestou a jej\u00ed p\u0159\u00edtomnost v plic\u00edch je obvykle asymptomatick\u00e1. Lid\u00e9 s oslabenou imunitou, zejm\u00e9na ti s po\u010dtem CD4+ T bun\u011bk ni\u017e\u0161\u00edm ne\u017e 200/mikrolitr, jsou v\u0161ak st\u00e1le ohro\u017eeni vznikem pneumocystov\u00e9 pneumonie v d\u016fsledku invaze P. jirovecii. P\u0159\u00edznaky vyvolan\u00e9 t\u00edmto onemocn\u011bn\u00edm nejsou specifick\u00e9: progresivn\u00ed du\u0161nost, neproduktivn\u00ed ka\u0161el, n\u00edzk\u00e1 hore\u010dka, arteri\u00e1ln\u00ed parci\u00e1ln\u00ed tlak kysl\u00edku pod 65 mmHg a oboustrann\u00e9 zast\u00ednen\u00ed intersticia na rentgenov\u00fdch sn\u00edmc\u00edch plic.", "translation_language": "cs", @@ -793286,7 +793286,7 @@ { "subject_id": "HP:0020175", "predicate_id": "IAO:0000115", - "source_value": "A decreased amount of cholinesterase in the blood circulation.", + "source_value": "Activity or concentration of cholinesterase in the blood circulation below the lower limit of normal.", "source_language": "en", "translation_value": "Sn\u00ed\u017een\u00e9 mno\u017estv\u00ed cholinester\u00e1zy v krevn\u00edm ob\u011bhu.", "translation_language": "cs", @@ -793295,7 +793295,7 @@ { "subject_id": "HP:0020175", "predicate_id": "rdfs:label", - "source_value": "Reduced cholinesterase level", + "source_value": "Reduced circulating cholinesterase activity", "source_language": "en", "translation_value": "Sn\u00ed\u017een\u00e1 hladina cholinester\u00e1zy", "translation_language": "cs", @@ -793304,33 +793304,33 @@ { "subject_id": "HP:0020175", "predicate_id": "rdfs:label", - "source_value": "Reduced cholinesterase level", + "source_value": "Reduced circulating cholinesterase activity", "source_language": "en", "translation_value": "\u80c6\u78b1\u916f\u9176\u6c34\u5e73\u964d\u4f4e", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0020175", "predicate_id": "rdfs:label", - "source_value": "Reduced cholinesterase level", + "source_value": "Reduced circulating cholinesterase activity", "source_language": "en", "translation_value": "\u30b3\u30ea\u30f3\u30a8\u30b9\u30c6\u30e9\u30fc\u30bc\u5024\u306e\u4f4e\u4e0b", "translation_language": "ja", "source_version": "http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl", "translation_date": "2023-07-31", "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0020175", "predicate_id": "rdfs:label", - "source_value": "Reduced cholinesterase level", + "source_value": "Reduced circulating cholinesterase activity", "source_language": "en", "translation_value": "Disminuci\u00f3n del nivel de colinesterasa", "translation_language": "es", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0020176", @@ -794551,7 +794551,7 @@ { "subject_id": "HP:0020201", "predicate_id": "IAO:0000115", - "source_value": "Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs.", + "source_value": "Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z disks.", "source_language": "en", "translation_value": "Jak\u00e1koli struktur\u00e1ln\u00ed vada sarkomery, je\u017e je z\u00e1kladn\u00ed jednotkou myofibril ve svalov\u00e9 bu\u0148ce, obsahuje p\u0159ekr\u00fdvaj\u00edc\u00ed se tlust\u00e1 a tenk\u00e1 vl\u00e1kna mezi dv\u011bma sousedn\u00edmi Z disky", "translation_language": "cs", @@ -794600,7 +794600,7 @@ { "subject_id": "HP:0020202", "predicate_id": "IAO:0000115", - "source_value": "Any structural anomaly of the Z disc, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached.", + "source_value": "Any structural anomaly of the Z disk, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached.", "source_language": "en", "translation_value": "Jak\u00e1koli struktur\u00e1ln\u00ed vada Z-disku, co\u017e je deskovit\u00e1 oblast sarkomery, ve kter\u00e9 jsou ukotveny +konce aktinov\u00fdch vl\u00e1ken", "translation_language": "cs", @@ -794609,7 +794609,7 @@ { "subject_id": "HP:0020202", "predicate_id": "rdfs:label", - "source_value": "Abnormal Z disc morphology", + "source_value": "Abnormal Z disk morphology", "source_language": "en", "translation_value": "Abnorm\u00e1ln\u00ed morfologie Z-disku", "translation_language": "cs", @@ -794618,38 +794618,38 @@ { "subject_id": "HP:0020202", "predicate_id": "rdfs:label", - "source_value": "Abnormal Z disc morphology", + "source_value": "Abnormal Z disk morphology", "source_language": "en", "translation_value": "Z\u76d8\u5f62\u6001\u5f02\u5e38", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0020202", "predicate_id": "rdfs:label", - "source_value": "Abnormal Z disc morphology", + "source_value": "Abnormal Z disk morphology", "source_language": "en", "translation_value": "Z\u30c7\u30a3\u30b9\u30af\u5f62\u614b\u7570\u5e38", "translation_language": "ja", "source_version": "http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl", "translation_date": "2023-07-31", "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0020202", "predicate_id": "rdfs:label", - "source_value": "Abnormal Z disc morphology", + "source_value": "Abnormal Z disk morphology", "source_language": "en", "translation_value": "Morfolog\u00eda anormal del disco Z", "translation_language": "es", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0020203", "predicate_id": "IAO:0000115", - "source_value": "Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disc may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change.", + "source_value": "Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disk may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change.", "source_language": "en", "translation_value": "Roz\u0161\u00ed\u0159en\u00ed \u010di nata\u017een\u00ed z-disku, kter\u00fd pak ji\u017e nen\u00ed omezen na \u00fazkou z\u00f3nu, kter\u00e1 prot\u00edn\u00e1 I prou\u017eek. Z-disk se m\u016f\u017ee klikat\u011b t\u00e1hnout nap\u0159\u00ed\u010d I prou\u017ekem nebo celou sarkomerou. Sou\u010dasn\u011b doch\u00e1z\u00ed k ohniskov\u00e9mu zes\u00edlen\u00ed a rozta\u017een\u00ed z-disku. Myofibril\u00e1rn\u00ed dezorganizace je \u010dastou, ale ne nem\u011bnnou doprovodnou zm\u011bnou", "translation_language": "cs", @@ -803736,7 +803736,7 @@ { "subject_id": "HP:0025105", "predicate_id": "IAO:0000115", - "source_value": "A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anaemic spots.", + "source_value": "A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anemic spots.", "source_language": "en", "translation_value": "Naevus anemicus je ko\u017en\u00ed l\u00e9ze charakterizovan\u00e1 nepravideln\u00fdmi hypopigmentovan\u00fdmi makulami kter\u00e9 spl\u00fdvaj\u00ed do plak\u016f a vyskytuj\u00ed se prim\u00e1rn\u011b na hrudn\u00edku. Obvykle se vyskytuje p\u0159i narozen\u00ed nebo se vyv\u00edj\u00ed v prvn\u00edch dnech \u017eivota. Je \u010dast\u011bj\u0161\u00ed u \u017een. Diagn\u00f3za je potvrzena aplikac\u00ed jemn\u00e9ho t\u0159en\u00ed na l\u00e9zi a okoln\u00ed k\u016f\u017ei a kontrolou, zda se eryt\u00e9m produkovan\u00fd na zdrav\u00e9 k\u016f\u017ei neobjevuje v hypopigmentovan\u00e9 l\u00e9zi. Tato bled\u00e1 makula se st\u00e1v\u00e1 n\u00e1padn\u011bj\u0161\u00ed, kdy\u017e se l\u00e9ze a jej\u00ed okol\u00ed t\u0159ou. Okraj naevu je \u0161patn\u011b ohrani\u010den\u00fd a skl\u00e1d\u00e1 se ze souostrov\u00ed mal\u00fdch anemick\u00fdch skvrn.", "translation_language": "cs", @@ -803745,7 +803745,7 @@ { "subject_id": "HP:0025105", "predicate_id": "IAO:0000115", - "source_value": "A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anaemic spots.", + "source_value": "A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anemic spots.", "source_language": "en", "translation_value": "D\u00fczensiz hipopigmente mak\u00fcller ile karakterize konjenital bir cilt lezyonu, plaklar olu\u015fturmak i\u00e7in birle\u015fir ve \u00f6zellikle g\u00f6\u011f\u00fcs b\u00f6lgesinde g\u00f6r\u00fcl\u00fcr. Genellikle do\u011fumda ya da ya\u015fam\u0131n ilk g\u00fcnlerinde geli\u015fir. Kad\u0131nlarda daha s\u0131k g\u00f6r\u00fcl\u00fcr. Tan\u0131, lezyona ve \u00e7evreleyen deriye hafif s\u00fcrt\u00fcnme uygulayarak ve sa\u011fl\u0131kl\u0131 deride \u00fcretilen eritemin hipopigmente lezyonda g\u00f6r\u00fcnmedi\u011fini kontrol ederek teyit edilir. Bu soluk mak\u00fcl, lezyon ve \u00e7evresi ovuldu\u011funda daha belirgin hale gelir. K\u00fc\u00e7\u00fck anemik noktalar adas\u0131ndan olu\u015fan nev\u00fcs\u00fcn marj\u0131 tam tan\u0131mlanm\u0131\u015ft\u0131r", "translation_language": "tr", @@ -810173,16 +810173,16 @@ { "subject_id": "HP:0025186", "predicate_id": "IAO:0000115", - "source_value": "Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing.", + "source_value": "Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva maneuver and even by breathing.", "source_language": "en", "translation_value": "Jednostrann\u00e1 pt\u00f3za s p\u0159idru\u017eenou kontrakc\u00ed horn\u00edho v\u00ed\u010dka a kontrakc\u00ed vn\u011bj\u0161\u00edho nebo vnit\u0159n\u00edho musculus pterygoideus. P\u0159edpokl\u00e1d\u00e1 se, \u017ee k n\u011bmu doch\u00e1z\u00ed v d\u016fsledku vrozen\u00e9ho \u0161patn\u00e9ho zapojen\u00ed v\u011btve p\u00e1t\u00e9ho hlavov\u00e9ho nervu do v\u011btve t\u0159et\u00edho hlavov\u00e9ho nervu z\u00e1sobuj\u00edc\u00edho musculus levator. U Marcuse Gunn syndromu je elevace a dokonce retrakce posti\u017een\u00e9ho v\u00ed\u010dka spu\u0161t\u011bna \u017ev\u00fdk\u00e1n\u00edm, s\u00e1n\u00edm, bo\u010dn\u00edm pohybem doln\u00ed \u010delisti, \u00fasm\u011bvem, kontrakc\u00ed musculus sternocleidomastoideus, vyplazen\u00fdm jazykem, Valsalvov\u00fdm man\u00e9vrem a dokonce i d\u00fdch\u00e1n\u00edm.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0025186", "predicate_id": "IAO:0000115", - "source_value": "Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing.", + "source_value": "Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva maneuver and even by breathing.", "source_language": "en", "translation_value": "\u00dcst g\u00f6z kapa\u011f\u0131 kas\u0131lmas\u0131 ve d\u0131\u015f veya i\u00e7 pterigoid kas\u0131n\u0131n kas\u0131lmas\u0131na ba\u011fl\u0131 unilateral pitozis. Be\u015finci kranyal sinir dal\u0131n\u0131n levator kas\u0131n\u0131 sa\u011flayan \u00fc\u00e7\u00fcnc\u00fc kranyal sinir dal\u0131na konjenital olarak hatal\u0131 ba\u011flanmas\u0131 nedeniyle rastland\u0131\u011f\u0131 d\u00fc\u015f\u00fcn\u00fclmektedir. Marcus Gunn \u00e7ene g\u00f6z k\u0131rpma sinkinezisinde, etkilenmi\u015f g\u00f6z kapa\u011f\u0131n\u0131n y\u00fckselmesi ve hatta geri \u00e7ekilmesi, \u00e7i\u011fneme, emme, yanal mandib\u00fcla hareketi, g\u00fcl\u00fcmseme, sternokleidomastoyid kontraksiyon, \u00e7\u0131k\u0131nt\u0131l\u0131 dilde, Valsalva manevras\u0131 ve hatta solunum yoluyla tetiklenir", "translation_language": "tr", @@ -810345,7 +810345,7 @@ { "subject_id": "HP:0025190", "predicate_id": "IAO:0000115", - "source_value": "A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterised by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure.", + "source_value": "A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterized by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure.", "source_language": "en", "translation_value": "Bilater\u00e1ln\u00ed tonicko-klonick\u00fd z\u00e1chvat s generalizovan\u00fdm n\u00e1stupem je typ bilater\u00e1ln\u00edho tonicko-klonick\u00e9ho z\u00e1chvatu, kter\u00fd se vyzna\u010duje generalizovan\u00fdm n\u00e1stupem; tyto z\u00e1chvaty na za\u010d\u00e1tku z\u00e1chvatu rychle zahrnuj\u00ed ob\u011b hemisf\u00e9ry.", "translation_language": "cs", @@ -810354,7 +810354,7 @@ { "subject_id": "HP:0025190", "predicate_id": "IAO:0000115", - "source_value": "A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterised by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure.", + "source_value": "A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterized by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure.", "source_language": "en", "translation_value": "Meydana gelen ve h\u0131zla bilateral da\u011f\u0131l\u0131ml\u0131 a\u011flar\u0131n i\u00e7ine giren generalize tonik-klonik bir n\u00f6bet tipi", "translation_language": "tr", @@ -826489,20 +826489,20 @@ { "subject_id": "HP:0025389", "predicate_id": "IAO:0000115", - "source_value": "High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities.", + "source_value": "High-resolution computed tomography (HRCT) can distinguish findings that characterize characterize interstitial lung diseases in a way not possible with other modalities.", "source_language": "en", "translation_value": "V\u00fdpo\u010detn\u00ed tomografie s vysok\u00fdm prostorov\u00fdm rozli\u0161en\u00edm (HRCT) m\u016f\u017ee rozli\u0161it n\u00e1lezy, kter\u00e9 charakterizuj\u00ed interstici\u00e1ln\u00ed plicn\u00ed onemocn\u011bn\u00ed zp\u016fsobem, kter\u00fd nen\u00ed mo\u017en\u00fd s jin\u00fdmi modalitami", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0025389", "predicate_id": "IAO:0000115", - "source_value": "High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities.", + "source_value": "High-resolution computed tomography (HRCT) can distinguish findings that characterize characterize interstitial lung diseases in a way not possible with other modalities.", "source_language": "en", "translation_value": "Y\u00fcksek \u00e7\u00f6z\u00fcn\u00fcrl\u00fckl\u00fc bilgisayarl\u0131 tomografi (Y\u00c7BT) di\u011fer modaliteler ile m\u00fcmk\u00fcn olmayan \u015fekilde intersitisyel akci\u011fer hastal\u0131klar\u0131n\u0131 karakterize eden bulgular\u0131 ay\u0131rt edebilir", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0025389", @@ -826575,20 +826575,20 @@ { "subject_id": "HP:0025390", "predicate_id": "IAO:0000115", - "source_value": "On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh.", + "source_value": "On pulmonary high-resolution computed tomography, reticular pattern is characterized by innumerable interlacing shadows suggesting a mesh.", "source_language": "en", "translation_value": "N\u00e1lez na v\u00fdpo\u010detn\u00ed tomografii s vysok\u00fdm prostorov\u00fdm rozli\u0161en\u00edm (HRCT) plic, konkr\u00e9tn\u011b retikul\u00e1rn\u00ed zm\u011bna typick\u00e1 nespo\u010detn\u00fdmi vz\u00e1jemn\u011b se propl\u00e9taj\u00edc\u00ed st\u00edny p\u0159ipom\u00ednaj\u00edc\u00ed s\u00ed\u0165", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0025390", "predicate_id": "IAO:0000115", - "source_value": "On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh.", + "source_value": "On pulmonary high-resolution computed tomography, reticular pattern is characterized by innumerable interlacing shadows suggesting a mesh.", "source_language": "en", "translation_value": "Pulmoner interstisyel y\u00fcksek \u00e7\u00f6z\u00fcn\u00fcrl\u00fckl\u00fc bilgisayarl\u0131 tomografide retik\u00fcler patern bir a\u011f\u0131 and\u0131ran birbiri i\u00e7ine ge\u00e7mi\u015f say\u0131s\u0131z g\u00f6lge ile karakterizedir", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0025390", @@ -826738,16 +826738,16 @@ { "subject_id": "HP:0025392", "predicate_id": "IAO:0000115", - "source_value": "A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter.", + "source_value": "A nodular pattern is characterized on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter.", "source_language": "en", "translation_value": "Nodul\u00e1rn\u00ed zm\u011bny na v\u00fdpo\u010detn\u00e9 tomografii s vysok\u00fdm rozli\u0161en\u00edm (HRCT) plic se vyzna\u010duje p\u0159\u00edtomnost\u00ed \u010detn\u00fdch zaoblen\u00fdch opacit, kter\u00e9 jsou od 2 mm do 1 cm v pr\u016fm\u011bru, v p\u0159\u00edpad\u011b mikronodul\u016f je n\u00e1lez definov\u00e1n pr\u016fmerem men\u0161\u00edm ne\u017e 3 mm.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0025392", "predicate_id": "IAO:0000115", - "source_value": "A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter.", + "source_value": "A nodular pattern is characterized on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter.", "source_language": "en", "translation_value": "Nod\u00fcler bir kal\u0131p, pulmoner y\u00fcksek \u00e7\u00f6z\u00fcn\u00fcrl\u00fckl\u00fc bilgisayarl\u0131 tomografide, \u00e7ap\u0131 3 mm'den k\u00fc\u00e7\u00fck olarak tan\u0131mlanm\u0131\u015f miktonod\u00fcllerle \u00e7aplar\u0131 2 mm'den 1 cm'ye kadar say\u0131s\u0131z yuvarlakla\u015ft\u0131r\u0131lan opasitenin varl\u0131\u011f\u0131 ile karakterizedir", "translation_language": "tr", @@ -837787,20 +837787,20 @@ { "subject_id": "HP:0025531", "predicate_id": "IAO:0000115", - "source_value": "The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body.", + "source_value": "The Harlequin phenomenon consists of a sudden change in skin color, resulting in two different body colors, one on each half of the body.", "source_language": "en", "translation_value": "Harlek\u00fdnsk\u00fd fenom\u00e9n spo\u010d\u00edv\u00e1 v n\u00e1hl\u00e9 zm\u011bn\u011b barvy k\u016f\u017ee, kter\u00e1 m\u00e1 za n\u00e1sledek dv\u011b r\u016fzn\u00e9 barvy t\u011bla, jednu na ka\u017ed\u00e9 polovin\u011b t\u011bla.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0025531", "predicate_id": "IAO:0000115", - "source_value": "The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body.", + "source_value": "The Harlequin phenomenon consists of a sudden change in skin color, resulting in two different body colors, one on each half of the body.", "source_language": "en", "translation_value": "Her bir v\u00fccut yar\u0131s\u0131nda iki farkl\u0131 v\u00fccut rengi ile sonu\u00e7lanan deri renginde ani bir de\u011fi\u015fimi i\u00e7eren Harlequin fenomeni", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0025531", @@ -839551,20 +839551,20 @@ { "subject_id": "HP:0025559", "predicate_id": "IAO:0000115", - "source_value": "A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown.", + "source_value": "A type of cataract characterized by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown.", "source_language": "en", "translation_value": "Typ katarakty charakterizovan\u00fd kyjovit\u00fdmi a bodov\u00fdmi opacitami um\u00edst\u011bn\u00fdmi radi\u00e1ln\u011b v kortexu. Tyto opacity obklopuj\u00ed j\u00e1dro a v\u00fdsledn\u00e1 vzhled p\u0159ipom\u00edn\u00e1 korunu", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0025559", "predicate_id": "IAO:0000115", - "source_value": "A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown.", + "source_value": "A type of cataract characterized by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown.", "source_language": "en", "translation_value": "Derin kortekste \u0131\u015f\u0131nsal olarak da\u011f\u0131lan \u00e7omak \u015fekilli ve nokta opasiteleri ile karakterize bir katarakt tipi. Bu lens opasiteleri bir tac\u0131 and\u0131ran g\u00f6r\u00fcn\u00fcmde n\u00fckleusu \u00e7evreler", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0025559", @@ -840239,16 +840239,16 @@ { "subject_id": "HP:0025567", "predicate_id": "IAO:0000115", - "source_value": "An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the centre of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months.", + "source_value": "An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the center of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months.", "source_language": "en", "translation_value": "Anom\u00e1lie s\u00edtnice se ser\u00f3zn\u00edm odchl\u00edpen\u00edm neurosenzorick\u00e9 s\u00edtnice sekund\u00e1rn\u00ed k jedn\u00e9 nebo v\u00edce fok\u00e1ln\u00edm l\u00e9z\u00edm retin\u00e1ln\u00edho pigmentov\u00e9ho epitelu (RPE) a spojen\u00e1 s rozmazan\u00fdm vid\u011bn\u00edm, obvykle pouze na jednom oku a pacientem obvykle vn\u00edm\u00e1na jako tmav\u00e1 skvrna st\u0159edu zorn\u00e9ho pole s p\u0159idru\u017eenou mikropsi\u00ed a metamorfopsi\u00ed. Norm\u00e1ln\u00ed vid\u011bn\u00ed se \u010dasto spont\u00e1nn\u011b vr\u00e1t\u00ed b\u011bhem n\u011bkolika m\u011bs\u00edc\u016f.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0025567", "predicate_id": "IAO:0000115", - "source_value": "An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the centre of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months.", + "source_value": "An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the center of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months.", "source_language": "en", "translation_value": "Retina pigment epitelyumunun (RPE) bir veya daha fazla odak lezyonunda ortanca olan ve genellikle yaln\u0131zca bir g\u00f6zde sadece bulutlu g\u00f6rme ile ba\u011flant\u0131s\u0131 olan n\u00f6rosensor retinan\u0131n serumlu dekolman\u0131 ile retinan\u0131n anomalisi tipik olarak hasta taraf\u0131ndan mikroskop ve metamorfopsinin ba\u011flant\u0131l\u0131 oldu\u011fu g\u00f6rme alan\u0131n\u0131n merkezinde karanl\u0131k bir nokta olarak g\u00f6r\u00fcl\u00fcr. Normal g\u00f6r\u00fc\u015f, birka\u00e7 ay i\u00e7inde s\u0131kl\u0131kla kendili\u011finden tekrar eder", "translation_language": "tr", @@ -840565,20 +840565,20 @@ { "subject_id": "HP:0025571", "predicate_id": "IAO:0000115", - "source_value": "A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree.", + "source_value": "A type of cataract that shows a spectacular display of multiple colors that glitters with the change of incident light like an illuminated Christmas tree.", "source_language": "en", "translation_value": "Typ \u0161ed\u00e9ho z\u00e1kalu, kter\u00fd vykazuje velkolep\u00e9 zobrazen\u00ed mnoha barev, je\u017e se t\u0159pyt\u00ed p\u0159i zm\u011bn\u011b dopadaj\u00edc\u00edho sv\u011btla jako osv\u011btlen\u00fd v\u00e1no\u010dn\u00ed stromek.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0025571", "predicate_id": "IAO:0000115", - "source_value": "A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree.", + "source_value": "A type of cataract that shows a spectacular display of multiple colors that glitters with the change of incident light like an illuminated Christmas tree.", "source_language": "en", "translation_value": "I\u015f\u0131kland\u0131r\u0131lm\u0131\u015f y\u0131lba\u015f\u0131 a\u011fac\u0131 gibi par\u0131ldayan birden fazla muhte\u015fem renkler g\u00f6steren bir katarakt tipi", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0025571", @@ -847013,7 +847013,7 @@ { "subject_id": "HP:0025679", "predicate_id": "IAO:0000115", - "source_value": "Inflammation of an intervertebral disc or disk space.", + "source_value": "Inflammation of an intervertebral disk or disk space.", "source_language": "en", "translation_value": "Z\u00e1n\u011bt meziobratlov\u00e9 plot\u00e9nky", "translation_language": "cs", @@ -848140,7 +848140,7 @@ { "subject_id": "HP:0025702", "predicate_id": "IAO:0000115", - "source_value": "A type of Schizencephaly in which there is a trans-mantle column of abnormal grey matter but no evidence of a CSF-containing cleft on MR imaging.", + "source_value": "A type of Schizencephaly in which there is a trans-mantle column of abnormal gray matter but no evidence of a CSF-containing cleft on MR imaging.", "source_language": "en", "translation_value": "Typ schizencefalie, u kter\u00e9ho je p\u0159\u00ed\u010dn\u00fd sloupec abnorm\u00e1ln\u00ed \u0161ed\u00e9 hmoty, ale na zobrazen\u00ed MR nen\u00ed patrn\u00fd roz\u0161t\u011bp obsahuj\u00edc\u00ed mozkom\u00ed\u0161n\u00ed mok.", "translation_language": "cs", @@ -848189,7 +848189,7 @@ { "subject_id": "HP:0025703", "predicate_id": "IAO:0000115", - "source_value": "A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal grey matter that are opposed to each other.", + "source_value": "A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal gray matter that are opposed to each other.", "source_language": "en", "translation_value": "Typ schizencefalie, p\u0159i n\u00ed\u017e je p\u0159\u00edtomna roz\u0161t\u011bpov\u00e1 \u0161t\u011brbina obsahuj\u00edc\u00ed mozkom\u00ed\u0161n\u00ed mok s p\u0159il\u00e9haj\u00edc\u00edmi lemuj\u00edc\u00edmi okraji abnorm\u00e1ln\u00ed \u0161ed\u00e9 hmoty, kter\u00e9 jsou proti sob\u011b.", "translation_language": "cs", @@ -848238,7 +848238,7 @@ { "subject_id": "HP:0025704", "predicate_id": "IAO:0000115", - "source_value": "A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal grey matter.", + "source_value": "A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal gray matter.", "source_language": "en", "translation_value": "Typ schizencefalie, p\u0159i n\u00ed\u017e je p\u0159\u00edtomna roz\u0161t\u011bpov\u00e1 \u0161t\u011brbina obsahuj\u00edc\u00ed mozkom\u00ed\u0161n\u00ed mok s nep\u0159il\u00e9haj\u00edc\u00edmi v\u00fdstelkov\u00fdmi li\u0161tami abnorm\u00e1ln\u00ed \u0161ed\u00e9 hmoty.", "translation_language": "cs", @@ -871748,7 +871748,7 @@ { "subject_id": "HP:0030272", "predicate_id": "rdfs:label", - "source_value": "Abnormal erythrocyte enzyme level", + "source_value": "Abnormal erythrocyte enzyme concentration or activity", "source_language": "en", "translation_value": "Afwijjkende erytrocyt enzym activiteit", "translation_language": "nl", @@ -871757,7 +871757,7 @@ { "subject_id": "HP:0030272", "predicate_id": "rdfs:label", - "source_value": "Abnormal erythrocyte enzyme level", + "source_value": "Abnormal erythrocyte enzyme concentration or activity", "source_language": "en", "translation_value": "Activit\u00e9 enzymatique \u00e9rythrocytaire anormale", "translation_language": "fr", @@ -871767,16 +871767,16 @@ { "subject_id": "HP:0030272", "predicate_id": "rdfs:label", - "source_value": "Abnormal erythrocyte enzyme level", + "source_value": "Abnormal erythrocyte enzyme concentration or activity", "source_language": "en", "translation_value": "Abnorm\u00e1ln\u00ed hladina erytrocyt\u00e1rn\u00edch enzym\u016f", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0030272", "predicate_id": "rdfs:label", - "source_value": "Abnormal erythrocyte enzyme level", + "source_value": "Abnormal erythrocyte enzyme concentration or activity", "source_language": "en", "translation_value": "Anormal eritrosit enzim aktivitesi", "translation_language": "tr", @@ -871785,29 +871785,29 @@ { "subject_id": "HP:0030272", "predicate_id": "rdfs:label", - "source_value": "Abnormal erythrocyte enzyme level", + "source_value": "Abnormal erythrocyte enzyme concentration or activity", "source_language": "en", "translation_value": "\u7ea2\u7ec6\u80de\u9176\u6c34\u5e73\u5f02\u5e38", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0030272", "predicate_id": "rdfs:label", - "source_value": "Abnormal erythrocyte enzyme level", + "source_value": "Abnormal erythrocyte enzyme concentration or activity", "source_language": "en", "translation_value": "\u8d64\u8840\u7403\u9175\u7d20\u6fc3\u5ea6\u7570\u5e38", "translation_language": "ja", "source_version": "http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl", "translation_date": "2023-07-31", "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0030272", "predicate_id": "rdfs:label", - "source_value": "Abnormal erythrocyte enzyme level", + "source_value": "Abnormal erythrocyte enzyme concentration or activity", "source_language": "en", "translation_value": "Actividad enzim\u00e1tica eritroc\u00edtica anormal", "translation_language": "es", @@ -873718,7 +873718,7 @@ { "subject_id": "HP:0030299", "predicate_id": "rdfs:label", - "source_value": "Distal femoral metaphyseal abnormality", + "source_value": "Abnormal distal femoral metaphysis morphology", "source_language": "en", "translation_value": "Distale femorale metafysaire afwijking", "translation_language": "nl", @@ -873727,61 +873727,61 @@ { "subject_id": "HP:0030299", "predicate_id": "rdfs:label", - "source_value": "Distal femoral metaphyseal abnormality", + "source_value": "Abnormal distal femoral metaphysis morphology", "source_language": "en", "translation_value": "Anomalie de la m\u00e9taphyse du f\u00e9mur distal", "translation_language": "fr", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "comment": "label of HP:0030299 (Distal femoral metaphyseal abnormality) ; abnormality of limbs ; abnormality of the skeletal system" }, { "subject_id": "HP:0030299", "predicate_id": "rdfs:label", - "source_value": "Distal femoral metaphyseal abnormality", + "source_value": "Abnormal distal femoral metaphysis morphology", "source_language": "en", "translation_value": "Abnormalita dist\u00e1ln\u00ed femor\u00e1ln\u00ed metaf\u00fdzy", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0030299", "predicate_id": "rdfs:label", - "source_value": "Distal femoral metaphyseal abnormality", + "source_value": "Abnormal distal femoral metaphysis morphology", "source_language": "en", "translation_value": "Distal femoral metafizyal anormallik", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0030299", "predicate_id": "rdfs:label", - "source_value": "Distal femoral metaphyseal abnormality", + "source_value": "Abnormal distal femoral metaphysis morphology", "source_language": "en", "translation_value": "\u80a1\u9aa8\u8fdc\u4fa7\u5e72\u9aba\u7aef\u5f02\u5e38", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0030299", "predicate_id": "rdfs:label", - "source_value": "Distal femoral metaphyseal abnormality", + "source_value": "Abnormal distal femoral metaphysis morphology", "source_language": "en", "translation_value": "\u5927\u817f\u9aa8\u9060\u4f4d\u9aa8\u5e79\u90e8\u7570\u5e38\u75c7", "translation_language": "ja", "source_version": "http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl", "translation_date": "2023-07-31", "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0030299", "predicate_id": "rdfs:label", - "source_value": "Distal femoral metaphyseal abnormality", + "source_value": "Abnormal distal femoral metaphysis morphology", "source_language": "en", "translation_value": "Anomal\u00eda metafisaria femoral distal", "translation_language": "es", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0030300", @@ -875185,20 +875185,20 @@ { "subject_id": "HP:0030320", "predicate_id": "IAO:0000115", - "source_value": "An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space.", + "source_value": "An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disk space.", "source_language": "en", "translation_value": "Zv\u011bt\u0161en\u00ed vertik\u00e1ln\u00ed vzd\u00e1lenosti mezi p\u0159ilehl\u00fdmi obratlov\u00fdmi t\u011bly, pozorovan\u00e9 jako zv\u011bt\u0161en\u00ed vzd\u00e1lenosti meziobratlov\u00fdch plot\u00e9nek", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0030320", "predicate_id": "IAO:0000115", - "source_value": "An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space.", + "source_value": "An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disk space.", "source_language": "en", "translation_value": "\u0130ntervertebral disk bo\u015flu\u011funda bir art\u0131\u015f olarak g\u00f6zlemlenen, biti\u015fik vertebral cisimler aras\u0131nda vertikal mesafede bir art\u0131\u015f", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0030320", @@ -877778,7 +877778,7 @@ { "subject_id": "HP:0030354", "predicate_id": "IAO:0000115", - "source_value": "Abnormal levels of interferon in the blood.", + "source_value": "Abnormal levels of interferon in the blood", "source_language": "en", "translation_value": "Abnorm\u00e1ln\u00ed hladiny interferonu v krvi", "translation_language": "cs", @@ -877787,7 +877787,7 @@ { "subject_id": "HP:0030354", "predicate_id": "IAO:0000115", - "source_value": "Abnormal levels of interferon in the blood.", + "source_value": "Abnormal levels of interferon in the blood", "source_language": "en", "translation_value": "Kanda anormal interferon seviyeleri", "translation_language": "tr", @@ -877796,7 +877796,7 @@ { "subject_id": "HP:0030354", "predicate_id": "rdfs:label", - "source_value": "Abnormal circulating interferon concentration", + "source_value": "obsolete Abnormal circulating interferon concentration", "source_language": "en", "translation_value": "Afwijkend serum interferon niveau", "translation_language": "nl", @@ -877805,7 +877805,7 @@ { "subject_id": "HP:0030354", "predicate_id": "rdfs:label", - "source_value": "Abnormal circulating interferon concentration", + "source_value": "obsolete Abnormal circulating interferon concentration", "source_language": "en", "translation_value": "Taux anormal d'interf\u00e9ron s\u00e9rique", "translation_language": "fr", @@ -877815,7 +877815,7 @@ { "subject_id": "HP:0030354", "predicate_id": "rdfs:label", - "source_value": "Abnormal circulating interferon concentration", + "source_value": "obsolete Abnormal circulating interferon concentration", "source_language": "en", "translation_value": "Abnorm\u00e1ln\u00ed koncentrace cirkuluj\u00edc\u00edho interferonu", "translation_language": "cs", @@ -877824,7 +877824,7 @@ { "subject_id": "HP:0030354", "predicate_id": "rdfs:label", - "source_value": "Abnormal circulating interferon concentration", + "source_value": "obsolete Abnormal circulating interferon concentration", "source_language": "en", "translation_value": "Anormal serum interferon seviyesi", "translation_language": "tr", @@ -877833,7 +877833,7 @@ { "subject_id": "HP:0030354", "predicate_id": "rdfs:label", - "source_value": "Abnormal circulating interferon concentration", + "source_value": "obsolete Abnormal circulating interferon concentration", "source_language": "en", "translation_value": "\u8840\u6e05\u5e72\u6270\u7d20\u6c34\u5e73\u5f02\u5e38", "translation_language": "zh", @@ -877842,20 +877842,20 @@ { "subject_id": "HP:0030354", "predicate_id": "rdfs:label", - "source_value": "Abnormal circulating interferon concentration", + "source_value": "obsolete Abnormal circulating interferon concentration", "source_language": "en", "translation_value": "\u5faa\u74b0\u30a4\u30f3\u30bf\u30fc\u30d5\u30a7\u30ed\u30f3\u6fc3\u5ea6\u7570\u5e38", "translation_language": "ja", "source_version": "http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl", "translation_date": "2023-07-31", "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0030354", "predicate_id": "rdfs:label", - "source_value": "Abnormal circulating interferon concentration", + "source_value": "obsolete Abnormal circulating interferon concentration", "source_language": "en", "translation_value": "Nivel s\u00e9rico anormal de interfer\u00f3n", "translation_language": "es", @@ -888654,16 +888654,16 @@ { "subject_id": "HP:0030497", "predicate_id": "IAO:0000115", - "source_value": "Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels.", + "source_value": "Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fiber layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels.", "source_language": "en", "translation_value": "Na\u010dechran\u00e1 b\u00edl\u00e1 skvrna na makule, kter\u00e1 p\u0159edstavuje lokalizovan\u00e9 denzn\u00ed oblasti b\u011blav\u00e9ho otoku nervov\u00fdch vl\u00e1ken s\u00edtnice. \u010casto maj\u00ed klikatou strukturu, nerovn\u00fd okraj, ale jinak jsou dob\u0159e ohrani\u010den\u00e9 a velikost p\u0159ibli\u017en\u011b 1 mm; m\u00edrn\u011b vystupuj\u00ed do sklivce a n\u011bkdy vychyluj\u00ed c\u00e9vy s\u00edtnice.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0030497", "predicate_id": "IAO:0000115", - "source_value": "Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels.", + "source_value": "Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fiber layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels.", "source_language": "en", "translation_value": "Retina sinir lif tabakas\u0131n\u0131n yo\u011fun oldu\u011fu b\u00f6lgelerede beyaz \u015fi\u015fmelerin meydana geldi\u011fi lokalize b\u00f6lgeleri temsil eden, mak\u00fcla dokusu \u00fczerindeki yumu\u015fak ve beyaz bir lekedir. Genellikle i\u00e7 yap\u0131s\u0131 zikzaklar, t\u00fcyl\u00fc bir kenara sahiptir, ters y\u00f6ne do\u011fru iyi \u00e7izilmi\u015f bir formdad\u0131r ve yakla\u015f\u0131k 1 mm boyuta sahiptirler; vitreusa hafif\u00e7e yans\u0131y\u0131p bazen retinal damarlar\u0131 sapt\u0131r\u0131rlar", "translation_language": "tr", @@ -898302,20 +898302,20 @@ { "subject_id": "HP:0030637", "predicate_id": "IAO:0000115", - "source_value": "Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia.", + "source_value": "Retinal phenotype characterized by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, color vision abnormalities, nystagmus and photophobia.", "source_language": "en", "translation_value": "Fenotyp s\u00edtnice charakterizovan\u00fd dysfunkc\u00ed fotoreceptor\u016f \u010d\u00edpk\u016f a zachovan\u00fdm syst\u00e9mem ty\u010dinek. Abnormalita je typicky stacion\u00e1rn\u00ed nebo velmi pomalu progreduj\u00edc\u00ed a n\u00e1lezy mohou zahrnovat oslaben\u00e9 centr\u00e1ln\u00ed vid\u011bn\u00ed, abnormality barevn\u00e9ho vid\u011bn\u00ed, nystagmus a fotofobii.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0030637", "predicate_id": "IAO:0000115", - "source_value": "Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia.", + "source_value": "Retinal phenotype characterized by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, color vision abnormalities, nystagmus and photophobia.", "source_language": "en", "translation_value": "Retinal fenotip koni fotoresept\u00f6r disfonksiyonu ve korunmu\u015f \u00e7ubuk sistemi ile karakterizedir. Anormallik tipik olarak ge\u00e7icidir veya \u00e7ok yava\u015f olarak ilerler ve bulgular azalm\u0131\u015f merkezi g\u00f6rme, renk g\u00f6rme anormallikleri, nistagmus ve fotofobi i\u00e7erebilir", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0030637", @@ -900241,16 +900241,16 @@ { "subject_id": "HP:0030664", "predicate_id": "IAO:0000115", - "source_value": "Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus.", + "source_value": "Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibers predominate pulling upwards the umbilicus.", "source_language": "en", "translation_value": "Slabost doln\u00ed \u010d\u00e1sti p\u0159\u00edm\u00e9ho b\u0159i\u0161n\u00edho svalu, kter\u00e1 se klinicky zji\u0161\u0165uje takto. Kdy\u017e se pacient posad\u00ed nebo zvedne hlavu z polohy vle\u017ee, pupek se posune sm\u011brem k hlav\u011b. Je to d\u016fsledek ochrnut\u00ed doln\u00ed \u010d\u00e1sti p\u0159\u00edm\u00e9ho b\u0159i\u0161n\u00edho svalu, tak\u017ee p\u0159eva\u017euj\u00ed horn\u00ed vl\u00e1kna, kter\u00e1 t\u00e1hnou pupek vzh\u016fru.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0030664", "predicate_id": "IAO:0000115", - "source_value": "Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus.", + "source_value": "Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibers predominate pulling upwards the umbilicus.", "source_language": "en", "translation_value": "Rektus kar\u0131n kas\u0131n\u0131n alt k\u0131sm\u0131n\u0131n zay\u0131fl\u0131\u011f\u0131 klinik olarak a\u015fa\u011f\u0131daki gibi tespit edilir. Hasta aya\u011fa kalkt\u0131\u011f\u0131nda veya dinlendi\u011fi pozisyondan kafas\u0131n\u0131 kald\u0131rd\u0131\u011f\u0131nda g\u00f6bek deli\u011fi ba\u015fa do\u011fru yer de\u011fi\u015ftirir. Bu, rektus kar\u0131n kas\u0131n\u0131n alt k\u0131sm\u0131n\u0131n felce u\u011framas\u0131n\u0131n sonucudur, b\u00f6ylece g\u00f6bek deli\u011fini yukar\u0131 do\u011fru \u00e7eken \u00fcst lifler bask\u0131n olur", "translation_language": "tr", @@ -901486,16 +901486,16 @@ { "subject_id": "HP:0030680", "predicate_id": "IAO:0000115", - "source_value": "Any structural anomaly of the heart and great vessels.", + "source_value": "Any structural anomaly of the heart and blood vessels.", "source_language": "en", "translation_value": "Jak\u00e1koli struktur\u00e1ln\u00ed anom\u00e1lie srdce a velk\u00fdch c\u00e9v.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0030680", "predicate_id": "IAO:0000115", - "source_value": "Any structural anomaly of the heart and great vessels.", + "source_value": "Any structural anomaly of the heart and blood vessels.", "source_language": "en", "translation_value": "Kalp ve b\u00fcy\u00fck damarlar\u0131n\u0131n herhangi bir yap\u0131sal anomalisi", "translation_language": "tr", @@ -903478,20 +903478,20 @@ { "subject_id": "HP:0030715", "predicate_id": "IAO:0000115", - "source_value": "A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis.", + "source_value": "A developmental anomaly characterized by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis.", "source_language": "en", "translation_value": "V\u00fdvojov\u00e1 anom\u00e1lie charakterizovan\u00e1 fok\u00e1ln\u00ed obliterac\u00ed proxim\u00e1ln\u00edho segmentu bronchu. Pr\u016fdu\u0161ky jsou dist\u00e1ln\u011b od m\u00edsta sten\u00f3zy zcela norm\u00e1ln\u00ed.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0030715", "predicate_id": "IAO:0000115", - "source_value": "A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis.", + "source_value": "A developmental anomaly characterized by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis.", "source_language": "en", "translation_value": "Bir bron\u015fun proksimal segmentinin fokal obliterasyonu ile karakterize bir geli\u015fimsel anomali. Bron\u015fiyal patern stenoz k\u0131sm\u0131n\u0131n distalinde tamamen normaldir", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0030715", @@ -908857,7 +908857,7 @@ { "subject_id": "HP:0030782", "predicate_id": "IAO:0000115", - "source_value": "An abnormal amount of any of the interleukins, a class of cytokines, in the circulation.", + "source_value": "An abnormal amount of any of the interleukins, a class of cytokines, in the circulation", "source_language": "en", "translation_value": "Abnorm\u00e1ln\u00ed mno\u017estv\u00ed n\u011bkter\u00e9ho z interleukin\u016f, skupiny cytokin\u016f, v ob\u011bhu", "translation_language": "cs", @@ -908866,7 +908866,7 @@ { "subject_id": "HP:0030782", "predicate_id": "IAO:0000115", - "source_value": "An abnormal amount of any of the interleukins, a class of cytokines, in the circulation.", + "source_value": "An abnormal amount of any of the interleukins, a class of cytokines, in the circulation", "source_language": "en", "translation_value": "Bir sitokin s\u0131n\u0131f\u0131 olan herhangi interl\u00f6kinin dola\u015f\u0131mdaki anormal bir miktar\u0131", "translation_language": "tr", @@ -908875,7 +908875,7 @@ { "subject_id": "HP:0030782", "predicate_id": "rdfs:label", - "source_value": "Abnormal circulating interleukin concentration", + "source_value": "obsolete Abnormal circulating interleukin concentration", "source_language": "en", "translation_value": "Taux anormal d'interleukine s\u00e9rique", "translation_language": "fr", @@ -908885,7 +908885,7 @@ { "subject_id": "HP:0030782", "predicate_id": "rdfs:label", - "source_value": "Abnormal circulating interleukin concentration", + "source_value": "obsolete Abnormal circulating interleukin concentration", "source_language": "en", "translation_value": "Abnorm\u00e1ln\u00ed s\u00e9rov\u00e1 hladina interleukinu", "translation_language": "cs", @@ -908894,7 +908894,7 @@ { "subject_id": "HP:0030782", "predicate_id": "rdfs:label", - "source_value": "Abnormal circulating interleukin concentration", + "source_value": "obsolete Abnormal circulating interleukin concentration", "source_language": "en", "translation_value": "Anormal serum interl\u00f6kin seviyesi", "translation_language": "tr", @@ -908903,29 +908903,29 @@ { "subject_id": "HP:0030782", "predicate_id": "rdfs:label", - "source_value": "Abnormal circulating interleukin concentration", + "source_value": "obsolete Abnormal circulating interleukin concentration", "source_language": "en", "translation_value": "\u5faa\u73af\u767d\u4ecb\u7d20\u6c34\u5e73\u5f02\u5e38", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0030782", "predicate_id": "rdfs:label", - "source_value": "Abnormal circulating interleukin concentration", + "source_value": "obsolete Abnormal circulating interleukin concentration", "source_language": "en", "translation_value": "\u5faa\u74b0\u30a4\u30f3\u30bf\u30fc\u30ed\u30a4\u30ad\u30f3\u6fc3\u5ea6\u7570\u5e38", "translation_language": "ja", "source_version": "http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl", "translation_date": "2023-07-31", "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0030782", "predicate_id": "rdfs:label", - "source_value": "Abnormal circulating interleukin concentration", + "source_value": "obsolete Abnormal circulating interleukin concentration", "source_language": "en", "translation_value": "Nivel anormal de interleukina s\u00e9rica", "translation_language": "es", @@ -934274,25 +934274,25 @@ { "subject_id": "HP:0031100", "predicate_id": "IAO:0000115", - "source_value": "A reduced concentration of inhibin B in the blood.", + "source_value": "The concentration of inhibin B in the blood circulation is below the lower limit of normal.", "source_language": "en", "translation_value": "Sn\u00ed\u017een\u00e1 koncentrace inhibinu B v krvi", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0031100", "predicate_id": "IAO:0000115", - "source_value": "A reduced concentration of inhibin B in the blood.", + "source_value": "The concentration of inhibin B in the blood circulation is below the lower limit of normal.", "source_language": "en", "translation_value": "Kanda azalm\u0131\u015f inhibin B konsantrasyonu", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0031100", "predicate_id": "rdfs:label", - "source_value": "Decreased inhibin B level", + "source_value": "Decreased circulating inhibin B concentration", "source_language": "en", "translation_value": "Verlaagd inhibine B niveau", "translation_language": "nl", @@ -934301,61 +934301,61 @@ { "subject_id": "HP:0031100", "predicate_id": "rdfs:label", - "source_value": "Decreased inhibin B level", + "source_value": "Decreased circulating inhibin B concentration", "source_language": "en", "translation_value": "Diminution du taux d'inhibine B", "translation_language": "fr", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "comment": "label of HP:0031100 (Decreased inhibin B level) ; abnormality of the endocrine system" }, { "subject_id": "HP:0031100", "predicate_id": "rdfs:label", - "source_value": "Decreased inhibin B level", + "source_value": "Decreased circulating inhibin B concentration", "source_language": "en", "translation_value": "Sn\u00ed\u017een\u00e1 hladina inhibinu B", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0031100", "predicate_id": "rdfs:label", - "source_value": "Decreased inhibin B level", + "source_value": "Decreased circulating inhibin B concentration", "source_language": "en", "translation_value": "Azalm\u0131\u015f inhibin B seviyesi", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0031100", "predicate_id": "rdfs:label", - "source_value": "Decreased inhibin B level", + "source_value": "Decreased circulating inhibin B concentration", "source_language": "en", "translation_value": "\u6291\u5236\u7d20B\u6c34\u5e73\u964d\u4f4e", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0031100", "predicate_id": "rdfs:label", - "source_value": "Decreased inhibin B level", + "source_value": "Decreased circulating inhibin B concentration", "source_language": "en", "translation_value": "\u30a4\u30f3\u30d2\u30d3\u30f3B\u5024\u306e\u4f4e\u4e0b", "translation_language": "ja", "source_version": "http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl", "translation_date": "2023-07-31", "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0031100", "predicate_id": "rdfs:label", - "source_value": "Decreased inhibin B level", + "source_value": "Decreased circulating inhibin B concentration", "source_language": "en", "translation_value": "Disminuci\u00f3n del nivel de inhibina B", "translation_language": "es", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0031101", @@ -937031,7 +937031,7 @@ { "subject_id": "HP:0031138", "predicate_id": "rdfs:label", - "source_value": "Abnormal B-type natriuretic peptide concentration", + "source_value": "Abnormal circulating B-type natriuretic peptide concentration", "source_language": "en", "translation_value": "Afwijkend B-type natriuretisch peptide niveau", "translation_language": "nl", @@ -937040,7 +937040,7 @@ { "subject_id": "HP:0031138", "predicate_id": "rdfs:label", - "source_value": "Abnormal B-type natriuretic peptide concentration", + "source_value": "Abnormal circulating B-type natriuretic peptide concentration", "source_language": "en", "translation_value": "Taux anormal de peptide natriur\u00e9tique de type B", "translation_language": "fr", @@ -937050,7 +937050,7 @@ { "subject_id": "HP:0031138", "predicate_id": "rdfs:label", - "source_value": "Abnormal B-type natriuretic peptide concentration", + "source_value": "Abnormal circulating B-type natriuretic peptide concentration", "source_language": "en", "translation_value": "Abnorm\u00e1ln\u00ed hladina natriuretick\u00e9ho peptidu typu B", "translation_language": "cs", @@ -937059,7 +937059,7 @@ { "subject_id": "HP:0031138", "predicate_id": "rdfs:label", - "source_value": "Abnormal B-type natriuretic peptide concentration", + "source_value": "Abnormal circulating B-type natriuretic peptide concentration", "source_language": "en", "translation_value": "Anormal B tipi natri\u00fcretik peptit seviyesi", "translation_language": "tr", @@ -937068,7 +937068,7 @@ { "subject_id": "HP:0031138", "predicate_id": "rdfs:label", - "source_value": "Abnormal B-type natriuretic peptide concentration", + "source_value": "Abnormal circulating B-type natriuretic peptide concentration", "source_language": "en", "translation_value": "B\u578b\u94a0\u5c3f\u80bd\u6c34\u5e73\u5f02\u5e38", "translation_language": "zh", @@ -937077,20 +937077,20 @@ { "subject_id": "HP:0031138", "predicate_id": "rdfs:label", - "source_value": "Abnormal B-type natriuretic peptide concentration", + "source_value": "Abnormal circulating B-type natriuretic peptide concentration", "source_language": "en", "translation_value": "B\u578b\u30ca\u30c8\u30ea\u30a6\u30e0\u5229\u5c3f\u30da\u30d7\u30c1\u30c9\u6fc3\u5ea6\u306e\u7570\u5e38", "translation_language": "ja", "source_version": "http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl", "translation_date": "2023-07-31", "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0031138", "predicate_id": "rdfs:label", - "source_value": "Abnormal B-type natriuretic peptide concentration", + "source_value": "Abnormal circulating B-type natriuretic peptide concentration", "source_language": "en", "translation_value": "Nivel anormal de p\u00e9ptido natriur\u00e9tico de tipo B", "translation_language": "es", @@ -941830,16 +941830,16 @@ { "subject_id": "HP:0031203", "predicate_id": "IAO:0000115", - "source_value": "A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses.", + "source_value": "A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarized light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses.", "source_language": "en", "translation_value": "Typ bezbun\u011b\u010dn\u00fdch mo\u010dov\u00fdch v\u00e1lc\u016f, kter\u00e9 obsahuj\u00ed tukov\u00e9 kapky, tukov\u00e1 t\u011bl\u00edska nebo krystaly cholesterolu a jsou \u010dasto asociov\u00e1ny s voln\u00fdmi formami t\u011bchto element\u016f. Jejich identifikace m\u016f\u017ee vy\u017eadovat pou\u017eit\u00ed polariza\u010dn\u00ed sv\u011bteln\u00e9 mikroskopie, v n\u00ed\u017e se tukov\u00e9 elementy ulo\u017een\u00e9 v matrix v\u00e1lce zobrazuj\u00ed jako malt\u00e9zsk\u00e9 k\u0159\u00ed\u017ee", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0031203", "predicate_id": "IAO:0000115", - "source_value": "A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses.", + "source_value": "A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarized light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses.", "source_language": "en", "translation_value": "Lipid damlac\u0131klar\u0131 i\u00e7eren bir h\u00fccresiz \u00fcrinerin t\u00fcr\u00fc, oval ya\u011fl\u0131 v\u00fccutlar veya kolesterol kristalleri, ve s\u0131kl\u0131kla bu \u00f6\u011felerin serbest bi\u00e7imleri ile ili\u015fkilidir. Onlar\u0131n kimli\u011fini saptama polarize \u0131\u015f\u0131k mikroskopisinin kullan\u0131lmas\u0131n\u0131 gerektirebilir, Malta ha\u00e7\u0131 olarak d\u00f6k\u00fcm kal\u0131ba benzeyenin i\u00e7ine ki ya\u011fl\u0131 par\u00e7ac\u0131klar\u0131 g\u00f6m\u00fclenlerin alt\u0131na", "translation_language": "tr", @@ -974875,16 +974875,16 @@ { "subject_id": "HP:0031606", "predicate_id": "IAO:0000115", - "source_value": "Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels.", + "source_value": "Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fiber layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels.", "source_language": "en", "translation_value": "Na\u010dechran\u00e1 b\u00edl\u00e1 skvrna na makule, kter\u00e1 p\u0159edstavuje lokalizovan\u00e9 denzn\u00ed oblasti b\u011blav\u00e9ho otoku nervov\u00fdch vl\u00e1ken s\u00edtnice. \u010casto maj\u00ed klikatou strukturu, nerovn\u00fd okraj, ale jinak jsou dob\u0159e ohrani\u010den\u00e9 a velikost p\u0159ibli\u017en\u011b 1 mm; m\u00edrn\u011b vystupuj\u00ed do sklivce a n\u011bkdy vychyluj\u00ed c\u00e9vy s\u00edtnice.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0031606", "predicate_id": "IAO:0000115", - "source_value": "Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels.", + "source_value": "Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fiber layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels.", "source_language": "en", "translation_value": "Retinadaki yumu\u015fak beyaz yama, retinal sinir lifi tabakas\u0131n\u0131n yo\u011fun beyaz \u015fi\u015fmelerinin lokalize b\u00f6lgelerini temsil eder. \u00c7o\u011funlukla zikzak dahili yap\u0131ya sahiptirler, t\u00fcyl\u00fc bir kenar ancak bunun d\u0131\u015f\u0131nda iyi betimlenmi\u015f bir bi\u00e7im ve yakla\u015f\u0131k olarak 1 mm boyut; vitreusa i\u00e7ine hafif\u00e7e yans\u0131rlar ve bazen retinal damarlar\u0131 sapt\u0131r\u0131rlar", "translation_language": "tr", @@ -979918,16 +979918,16 @@ { "subject_id": "HP:0031671", "predicate_id": "IAO:0000115", - "source_value": "Typical atrial flutter is an organised atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative.", + "source_value": "Typical atrial flutter is an organized atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative.", "source_language": "en", "translation_value": "Typick\u00fd flutter s\u00edn\u00ed je organizovan\u00e1 s\u00ed\u0148ov\u00e1 tachykardie. M\u016f\u017ee b\u00fdt tak\u00e9 definov\u00e1n jako reentry tachykardie omezen\u00e1 na pravou s\u00ed\u0148. Tato arytmie m\u00e1 d\u00e9lku cyklu 200-260 ms, a\u010dkoliv d\u00e9lka m\u016f\u017ee kol\u00edsat v z\u00e1vislosti na p\u0159edchoz\u00ed l\u00e9\u010db\u011b nebo ablaci, vrozen\u00e9 srde\u010dn\u00ed vad\u011b atd. Komorov\u00e1 frekven\u010dn\u00ed odpov\u011b\u010f bude omezena veden\u00edm atrioventrikul\u00e1rn\u00edho uzlu, obvykle p\u0159edstavuje odpov\u011b\u010f 2:1 nebo 3:1, b\u011bhem flutteru s\u00edn\u00ed. Typick\u00fd (proti sm\u011bru hodinov\u00fdch ru\u010di\u010dek) flutter je spojen s b\u011b\u017en\u00fdm vzorem flutteru: pravideln\u00fdm kontinu\u00e1ln\u00edm vln\u011bn\u00edm s dominantn\u00edmi negativn\u00edmi v\u00fdchylkami v doln\u00edch svodech II, III a aVF, \u010dasto popisovan\u00fdm tak\u00e9 jako vzor zub\u016f pily a ploch\u00fdmi v\u00fdchylkami s\u00edn\u00ed ve svodech I a aVL. S\u00ed\u0148ov\u00e9 v\u00fdchylky ve V1 mohou b\u00fdt pozitivn\u00ed, bif\u00e1zick\u00e9 nebo negativn\u00ed.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0031671", "predicate_id": "IAO:0000115", - "source_value": "Typical atrial flutter is an organised atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative.", + "source_value": "Typical atrial flutter is an organized atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative.", "source_language": "en", "translation_value": "Tipik bir atriyal \u00e7arp\u0131nt\u0131 organize bir atriyal ta\u015fikardidir. Ayr\u0131ca, sa\u011f atriyumla s\u0131n\u0131rlanm\u0131\u015f makro-aday ta\u015fikardi olarak da tan\u0131mlanabilir. Bu aritmi, hastan\u0131n \u00f6nceki tedavisine veya ablasyonuna, konjenital kalp hastal\u0131\u011f\u0131na vb. ba\u011fl\u0131 olarak dalgalanma g\u00f6sterebilir; ancak, 200-260 ms d\u00f6nem uzunlu\u011funa sahiptir. Ventrik\u00fcler h\u0131z cevab\u0131 atriyal \u00e7arp\u0131nt\u0131 s\u0131ras\u0131nda genellikle 2:1 veya 3:1 olan atriyoventrik\u00fcler d\u00fc\u011f\u00fcm iletkenleri ile s\u0131n\u0131rland\u0131r\u0131lacakt\u0131r. Tipik (saat y\u00f6n\u00fcn\u00fcn tersine) \u00e7arp\u0131nt\u0131, ortak \u00e7arp\u0131nt\u0131 modeliyle ili\u015fkilidir: \u0130nferior lead II, III ve aVF'de dominant negatif sapmalar g\u00f6steren d\u00fczenli s\u00fcrekli bir dalgalanma, \u00e7o\u011funlukla bir testere di\u015fi modeli olarak tan\u0131mlan\u0131r ve d\u00fcz atriyal sapmalar I ve aVL'ye sebep olur. V1'deki atriyal defleksiyonlar pozitif, bifazik veya negatif olabilir", "translation_language": "tr", @@ -990707,20 +990707,20 @@ { "subject_id": "HP:0031805", "predicate_id": "IAO:0000115", - "source_value": "A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal haemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina.", + "source_value": "A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal hemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina.", "source_language": "en", "translation_value": "\"Podtyp krv\u00e1cen\u00ed do fundu vyskytuj\u00edc\u00ed se v neurosenzorick\u00e9 s\u00edtnici. Intraretin\u00e1ln\u00ed hemoragie mohou m\u00edt tvar \"\"te\u010dky\"\" nebo \"\"skvrny\"\" nebo plamene v z\u00e1vislosti na jejich hloubce v s\u00edtnici.\"", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0031805", "predicate_id": "IAO:0000115", - "source_value": "A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal haemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina.", + "source_value": "A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal hemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina.", "source_language": "en", "translation_value": "N\u00f6roduyusal retina i\u00e7inde meydana gelen bir fundus hemorajisi alt tipi. \u0130ntraretinal hemorajiler retina i\u00e7indeki derinliklerine ba\u011fl\u0131 olarak 'nokta' veya 'leke' \u015fekilli veya alev \u015fekilli olabilir", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0031805", @@ -999531,20 +999531,20 @@ { "subject_id": "HP:0031931", "predicate_id": "IAO:0000115", - "source_value": "Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behaviour and its occurrence may be favoured by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation.", + "source_value": "Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behavior and its occurrence may be favored by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation.", "source_language": "en", "translation_value": "O\u010dn\u00ed flutter (t\u0159epot\u00e1n\u00ed) je abnorm\u00e1ln\u00ed o\u010dn\u00ed pohyb sest\u00e1vaj\u00edc\u00ed z opakovan\u00fdch, nepravideln\u00fdch, mimovoln\u00edch s\u00e9ri\u00ed horizont\u00e1ln\u00edch sak\u00e1d bez intersakadick\u00e9ho intervalu. Obvykle se p\u0159ekr\u00fdv\u00e1 s norm\u00e1ln\u00edm okulomotorick\u00fdm chov\u00e1n\u00edm a jeho v\u00fdskyt mohou podpo\u0159it r\u016fzn\u00e9 ud\u00e1losti, jako je mrknut\u00ed, spu\u0161t\u011bn\u00ed norm\u00e1ln\u00edch sak\u00e1d nebo optokinetick\u00e1 stimulace.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0031931", "predicate_id": "IAO:0000115", - "source_value": "Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behaviour and its occurrence may be favoured by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation.", + "source_value": "Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behavior and its occurrence may be favored by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation.", "source_language": "en", "translation_value": "Ok\u00fcler fluter tekrarlayan, d\u00fczensiz, sal\u0131n\u0131mlar aras\u0131 aral\u0131k olmadan olan yatay sal\u0131n\u0131mlar\u0131n istemsiz patlamalar\u0131ndan olu\u015fan anormal bir g\u00f6z hareketidir. Genellikle normal ok\u00fclomotor davran\u0131\u015f \u00fczerine binen ve meydana geli\u015fi g\u00f6z k\u0131rpmas\u0131, normal sal\u0131n\u0131mlar\u0131n tetiklenmesi veya optokinetik uyar\u0131 gibi \u00e7e\u015fitli olaylar taraf\u0131ndan m\u00fcmk\u00fcn olabilir", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0031931", @@ -1002516,20 +1002516,20 @@ { "subject_id": "HP:0031973", "predicate_id": "IAO:0000115", - "source_value": "An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc.", + "source_value": "An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disk.", "source_language": "en", "translation_value": "Abnorm\u00e1ln\u00ed zv\u00fd\u0161en\u00ed pom\u011bru v\u00fd\u0161ky poh\u00e1rku hlavy zrakov\u00e9ho nervu k v\u00fd\u0161ce disku.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0031973", "predicate_id": "IAO:0000115", - "source_value": "An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc.", + "source_value": "An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disk.", "source_language": "en", "translation_value": "Optik sinir ba\u015f \u00e7ukurunun y\u00fcksekli\u011finin disk y\u00fcksekli\u011fine oran\u0131nda anormal bir art\u0131\u015f", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0031973", @@ -1002593,16 +1002593,16 @@ { "subject_id": "HP:0031974", "predicate_id": "IAO:0000115", - "source_value": "Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.6 (The normal cup-to-disc ratio is 0.3).", + "source_value": "Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.6 (The normal cup-to-disc ratio is 0.3).", "source_language": "en", "translation_value": "Pom\u011br v\u00fd\u0161ky poh\u00e1rku hlavi\u010dky zrakov\u00e9ho nervu k v\u00fd\u0161ce disku je 0,6 (norm\u00e1ln\u00ed pom\u011br poh\u00e1rku a disku je 0,3).", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0031974", "predicate_id": "IAO:0000115", - "source_value": "Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.6 (The normal cup-to-disc ratio is 0.3).", + "source_value": "Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.6 (The normal cup-to-disc ratio is 0.3).", "source_language": "en", "translation_value": "Optik sinir ba\u015f \u00e7ukur y\u00fcksekli\u011finin disk y\u00fcksekli\u011fine oran\u0131 0.6'd\u0131r (normal \u00e7ukur disk oran\u0131 0.3't\u00fcr)", "translation_language": "tr", @@ -1002670,20 +1002670,20 @@ { "subject_id": "HP:0031975", "predicate_id": "IAO:0000115", - "source_value": "Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.7 (The normal cup-to-disc ratio is 0.3).", + "source_value": "Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.7 (The normal cup-to-disc ratio is 0.3).", "source_language": "en", "translation_value": "Pom\u011br v\u00fd\u0161ky poh\u00e1rku hlavi\u010dky zrakov\u00e9ho nervu k v\u00fd\u0161ce disku je 0,7 (norm\u00e1ln\u00ed pom\u011br poh\u00e1rku a disku je 0,3).", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0031975", "predicate_id": "IAO:0000115", - "source_value": "Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.7 (The normal cup-to-disc ratio is 0.3).", + "source_value": "Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.7 (The normal cup-to-disc ratio is 0.3).", "source_language": "en", "translation_value": "Optik sinir ba\u015f \u00e7ukur y\u00fcksekli\u011finin disk y\u00fcksekli\u011fine oran\u0131 0.7'dir (normal \u00e7ukur disk oran\u0131 0.3't\u00fcr)", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0031975", @@ -1002747,20 +1002747,20 @@ { "subject_id": "HP:0031976", "predicate_id": "IAO:0000115", - "source_value": "Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3).", + "source_value": "Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.8 (The normal cup-to-disc ratio is 0.3).", "source_language": "en", "translation_value": "Pom\u011br v\u00fd\u0161ky poh\u00e1rku hlavi\u010dky zrakov\u00e9ho nervu k v\u00fd\u0161ce disku je 0,8 (norm\u00e1ln\u00ed pom\u011br poh\u00e1rku a disku je 0,3).", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0031976", "predicate_id": "IAO:0000115", - "source_value": "Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3).", + "source_value": "Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.8 (The normal cup-to-disc ratio is 0.3).", "source_language": "en", "translation_value": "Optik sinir ba\u015f \u00e7ukur y\u00fcksekli\u011finin disk y\u00fcksekli\u011fine oran\u0131 0.8'dir (normal \u00e7ukur disk oran\u0131 0.3't\u00fcr)", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0031976", @@ -1002824,20 +1002824,20 @@ { "subject_id": "HP:0031977", "predicate_id": "IAO:0000115", - "source_value": "Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.9 (The normal cup-to-disc ratio is 0.3).", + "source_value": "Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.9 (The normal cup-to-disc ratio is 0.3).", "source_language": "en", "translation_value": "Pom\u011br v\u00fd\u0161ky poh\u00e1rku hlavi\u010dky zrakov\u00e9ho nervu k v\u00fd\u0161ce disku je 0,9 (norm\u00e1ln\u00ed pom\u011br poh\u00e1rku a disku je 0,3).", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0031977", "predicate_id": "IAO:0000115", - "source_value": "Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.9 (The normal cup-to-disc ratio is 0.3).", + "source_value": "Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.9 (The normal cup-to-disc ratio is 0.3).", "source_language": "en", "translation_value": "Optik sinir ba\u015f \u00e7ukur y\u00fcksekli\u011finin disk y\u00fcksekli\u011fine oran\u0131 0.9'dir (normal \u00e7ukur disk oran\u0131 0.3't\u00fcr)", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0031977", @@ -1002901,20 +1002901,20 @@ { "subject_id": "HP:0031978", "predicate_id": "IAO:0000115", - "source_value": "Ratio of the height of the cup of the optic nerve head to the height of the disc is 1.0 (The normal cup-to-disc ratio is 0.3).", + "source_value": "Ratio of the height of the cup of the optic nerve head to the height of the disk is 1.0 (The normal cup-to-disc ratio is 0.3).", "source_language": "en", "translation_value": "Pom\u011br v\u00fd\u0161ky poh\u00e1rku hlavi\u010dky zrakov\u00e9ho nervu k v\u00fd\u0161ce disku je 1,0 (norm\u00e1ln\u00ed pom\u011br poh\u00e1rku a disku je 0,3).", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0031978", "predicate_id": "IAO:0000115", - "source_value": "Ratio of the height of the cup of the optic nerve head to the height of the disc is 1.0 (The normal cup-to-disc ratio is 0.3).", + "source_value": "Ratio of the height of the cup of the optic nerve head to the height of the disk is 1.0 (The normal cup-to-disc ratio is 0.3).", "source_language": "en", "translation_value": "Optik sinir ba\u015f \u00e7ukur y\u00fcksekli\u011finin disk y\u00fcksekli\u011fine oran\u0131 1.0'dir (normal \u00e7ukur disk oran\u0131 0.3't\u00fcr)", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0031978", @@ -1006465,7 +1006465,7 @@ { "subject_id": "HP:0032025", "predicate_id": "IAO:0000115", - "source_value": "A reduced concentration or activity of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs.", + "source_value": "A reduced concentration or activity of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesized and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs.", "source_language": "en", "translation_value": "Sn\u00ed\u017een\u00e1 koncentrace cirkuluj\u00edc\u00edho alfa1-antitrypsinu, glykoproteinu o velikosti 52-kDam kter\u00fd je syntetizovan\u00fd a vylu\u010dovan\u00fd hepatocyty do krevn\u00edho \u0159e\u010di\u0161t\u011b. Alfa1-antitrypsin je inhibitor s\u00e9roprotein\u00e1zy, kter\u00fd m\u00e1 z\u00e1sadn\u00ed v\u00fdznam pro udr\u017een\u00ed prote\u00e1zov\u00e9 homeost\u00e1zy v plic\u00edch", "translation_language": "cs", @@ -1006474,7 +1006474,7 @@ { "subject_id": "HP:0032025", "predicate_id": "IAO:0000115", - "source_value": "A reduced concentration or activity of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs.", + "source_value": "A reduced concentration or activity of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesized and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs.", "source_language": "en", "translation_value": "Ana olarak hepatositler taraf\u0131ndan sentezlenen ve kan ak\u0131m\u0131n\u0131n i\u00e7ine salg\u0131lanan 52-kDa bir glikoprotein olan alfa-1 antitripsininin azalm\u0131\u015f dola\u015f\u0131m konsantrasyonu. Alfa-1 antitripsin akci\u011ferlerde proteaz-antiproteaz homeostazini s\u00fcrd\u00fcrmede kritik olan bir serin-proteinaz inhibit\u00f6r\u00fcd\u00fcr", "translation_language": "tr", @@ -1006619,20 +1006619,20 @@ { "subject_id": "HP:0032027", "predicate_id": "IAO:0000115", - "source_value": "Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size.", + "source_value": "Yellow, white or grayish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size.", "source_language": "en", "translation_value": "\u017dlut\u00e9, b\u00edl\u00e9 nebo \u0161edav\u00e9 l\u00e9ze na s\u00edtnici, kter\u00e9 jsou dob\u0159e ohrani\u010den\u00e9/v\u00fdrazn\u00e9, jednotliv\u00e9 a v\u011bt\u0161inou stejn\u00e9 velikosti.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0032027", "predicate_id": "IAO:0000115", - "source_value": "Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size.", + "source_value": "Yellow, white or grayish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size.", "source_language": "en", "translation_value": "Retinada iyi tan\u0131ml\u0131/ay\u0131rt edilebilen, bireysel ve \u00e7o\u011funlukla tek tip boyutta olan sar\u0131, beyaz veya grimsi lezyonlar", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0032027", @@ -1006696,20 +1006696,20 @@ { "subject_id": "HP:0032028", "predicate_id": "IAO:0000115", - "source_value": "Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size.", + "source_value": "Yellow, white or grayish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size.", "source_language": "en", "translation_value": "\u017dlut\u00e9, b\u00edl\u00e9 nebo \u0161edav\u00e9 l\u00e9ze v makule, kter\u00e9 jsou dob\u0159e ohrani\u010den\u00e9/v\u00fdrazn\u00e9, jednotliv\u00e9 a v\u011bt\u0161inou stejn\u00e9 velikosti.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0032028", "predicate_id": "IAO:0000115", - "source_value": "Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size.", + "source_value": "Yellow, white or grayish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size.", "source_language": "en", "translation_value": "Mak\u00fclada iyi tan\u0131ml\u0131/ay\u0131rt edilebilen, bireysel ve \u00e7o\u011funlukla tek tip boyutta olan sar\u0131, beyaz veya grimsi lezyonlar", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0032028", @@ -1006850,20 +1006850,20 @@ { "subject_id": "HP:0032030", "predicate_id": "IAO:0000115", - "source_value": "Laxity of the tendon stabilising the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed.", + "source_value": "Laxity of the tendon stabilizing the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed.", "source_language": "en", "translation_value": "Zv\u00fd\u0161en\u00e1 laxita \u0161lachy stabilizuj\u00edc\u00ed later\u00e1ln\u00ed \u010d\u00e1st tarz\u00e1ln\u00ed plot\u00e9nky ke zygomatick\u00e9 kosti. Toto m\u016f\u017ee v\u00e9st k obloukovit\u00e9mu vzhledu later\u00e1ln\u00edho o\u010dn\u00edho koutku. Kdy\u017e je takov\u00e9 v\u00ed\u010dko odta\u017eeno medi\u00e1ln\u011b, je mo\u017en\u00e9 pozorovat pohyb kant\u00e1ln\u00edho \u00fahlu o v\u00edce ne\u017e 2 mm.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0032030", "predicate_id": "IAO:0000115", - "source_value": "Laxity of the tendon stabilising the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed.", + "source_value": "Laxity of the tendon stabilizing the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed.", "source_language": "en", "translation_value": "Tarsal pla\u011f\u0131n lateral taraf\u0131n\u0131 zigomatik kemi\u011fe stabilize eden tendonun gev\u015fekli\u011fi. Bu lateral kantusun yuvarlak g\u00f6r\u00fcn\u00fcm\u00fc ile sonu\u00e7lanabilir. Ayr\u0131ca, g\u00f6z kapa\u011f\u0131 mediyal olarak \u00e7ekildi\u011finde kantal a\u00e7\u0131n\u0131n 2 mm'den fazla hareketi g\u00f6zlemlenebilir", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0032030", @@ -1006927,20 +1006927,20 @@ { "subject_id": "HP:0032031", "predicate_id": "IAO:0000115", - "source_value": "Laxity of the tendon stabilising the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally.", + "source_value": "Laxity of the tendon stabilizing the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally.", "source_language": "en", "translation_value": "Laxicita vazu stabilizuj\u00edc\u00edho medi\u00e1ln\u00ed \u010d\u00e1st tarz\u00e1ln\u00ed plot\u00e9nky na anteriorn\u00ed a posteriorn\u00ed crista lacrimalis. Pokud se v\u00ed\u010dko odt\u00e1hne later\u00e1ln\u011b, dojde k posunu punctum lacrimale v\u00edce ne\u017e 2 mm.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0032031", "predicate_id": "IAO:0000115", - "source_value": "Laxity of the tendon stabilising the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally.", + "source_value": "Laxity of the tendon stabilizing the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally.", "source_language": "en", "translation_value": "Tarsal pla\u011f\u0131n mediyal taraf\u0131n\u0131 anterior ve posterior lakrimal kabart\u0131lara stabilize eden tendon gev\u015fekli\u011fi. Bu, g\u00f6z kapa\u011f\u0131 lateral olarak \u00e7ekildi\u011finde punktumun 2 mm'den fazla hareketine yol a\u00e7abilir", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0032031", @@ -1007081,20 +1007081,20 @@ { "subject_id": "HP:0032033", "predicate_id": "IAO:0000115", - "source_value": "Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilising structures (e.g. lower lid retractors) or tarsal atrophy are often present.", + "source_value": "Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilizing structures (e.g. lower lid retractors) or tarsal atrophy are often present.", "source_language": "en", "translation_value": "Abnorm\u00e1ln\u011b laxn\u00ed o\u010dn\u00ed v\u00ed\u010dka asociovan\u00e9 s relaxac\u00ed tk\u00e1n\u00ed, predominantn\u011b ve vertik\u00e1ln\u00ed rovin\u011b. Lze demonstrovat vertik\u00e1ln\u00edm tahem za v\u00ed\u010dko. Oslaben\u00ed vertik\u00e1ln\u00edch stabiliza\u010dn\u00edch struktur (e.g. doln\u00edch retraktor\u016f v\u00ed\u010dka) \u010di tarz\u00e1ln\u00ed atrofie jsou \u010dasto p\u0159\u00edtomny.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0032033", "predicate_id": "IAO:0000115", - "source_value": "Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilising structures (e.g. lower lid retractors) or tarsal atrophy are often present.", + "source_value": "Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilizing structures (e.g. lower lid retractors) or tarsal atrophy are often present.", "source_language": "en", "translation_value": "Esas olarak dikey d\u00fczlemde doku gev\u015femesi ile ili\u015fkili anormal olarak gev\u015fek g\u00f6z kapa\u011f\u0131. Dikey g\u00f6z kapa\u011f\u0131 \u00e7ekmesi ile ispat edilebilir. Dikey stabilize edici yap\u0131lar (\u00f6rne\u011fin alt g\u00f6z kapa\u011f\u0131 retrakt\u00f6rleri) veya tarsal atrofi s\u0131kl\u0131kla mevcuttur", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0032033", @@ -1008621,7 +1008621,7 @@ { "subject_id": "HP:0032055", "predicate_id": "IAO:0000115", - "source_value": "A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organisation (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis).", + "source_value": "A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organization (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis).", "source_language": "en", "translation_value": "Podtyp fok\u00e1ln\u00ed kortik\u00e1ln\u00ed dysplazie typu III, kter\u00fd je charakterizov\u00e1n zm\u011bnami v architektonick\u00e9 organizaci (kortik\u00e1ln\u00ed dyslaminace) nebo cytoarchitektonick\u00e9m slo\u017een\u00ed (hypertrofick\u00e9 neurony mimo vrstvu 5) u pacient\u016f s hipokamp\u00e1ln\u00ed skler\u00f3zou.", "translation_language": "cs", @@ -1008630,7 +1008630,7 @@ { "subject_id": "HP:0032055", "predicate_id": "IAO:0000115", - "source_value": "A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organisation (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis).", + "source_value": "A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organization (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis).", "source_language": "en", "translation_value": "Hipokampal sklerozisli hastalarda (HS, sinonim Ammon'un boynuz sklerozu) mimari organizasyonda (kortikal dislaminasyon) veya h\u00fccresel mimari bile\u015fimde (Katman 5'in d\u0131\u015f\u0131nda hipertrofik n\u00f6ronlar) de\u011fi\u015fimler ile karakterize bir fokal kortikal displazi tip III alt tipi", "translation_language": "tr", @@ -1016915,20 +1016915,20 @@ { "subject_id": "HP:0032170", "predicate_id": "IAO:0000115", - "source_value": "An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterised by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella.", + "source_value": "An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterized by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella.", "source_language": "en", "translation_value": "Neobvykle z\u00e1va\u017en\u00e1 forma infekce virem Varicella zoster (VZV). Ve v\u011bt\u0161in\u011b p\u0159\u00edpad\u016f, zejm\u00e9na u d\u011bt\u00ed, je varicella velmi m\u00edrnou infekc\u00ed charakterizovanou ko\u017en\u00edmi l\u00e9zemi, n\u00edzkou hore\u010dkou a mal\u00e1tnost\u00ed. T\u011b\u017ek\u00e1 infekce je charakterizov\u00e1na projevy zahrnuj\u00edc\u00edmi VZV pneumonii, hepatitidu, meningitidu a diseminovanou varicellu.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0032170", "predicate_id": "IAO:0000115", - "source_value": "An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterised by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella.", + "source_value": "An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterized by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella.", "source_language": "en", "translation_value": "Varisella zoster vir\u00fcs\u00fc (VZV) enfeksiyonunun ola\u011fan d\u0131\u015f\u0131 ciddi bir formu. \u00c7o\u011fu vakada, \u00f6zellikle \u00e7ocuklarda varisella deri lezyonlar\u0131, d\u00fc\u015f\u00fck dereceli ate\u015f ve halsizlik ile karakterize \u00e7ok hafif bir enfeksiyondur. Ciddi enfeksiyon VZV pn\u00f6monisi, hepatit, menenjit ve yayg\u0131n varisella dahil bulgular ile karakterizedir", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0032170", @@ -1019302,20 +1019302,20 @@ { "subject_id": "HP:0032202", "predicate_id": "IAO:0000115", - "source_value": "Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognised: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC.", + "source_value": "Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognized: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC.", "source_language": "en", "translation_value": "Vulv\u00e1rn\u00ed intraepiteli\u00e1ln\u00ed neoplazie (VIN) je obecn\u011b pova\u017eov\u00e1na za prekurzor vulv\u00e1rn\u00edho dla\u017edicobun\u011b\u010dn\u00e9ho karcinomu (VSCC). VSCC vznik\u00e1 bu\u010f cestou spojenou s lidsk\u00fdm papiloma virem (HPV), nebo \u010dast\u011bji mechanismem nez\u00e1visl\u00fdm na HPV, \u010dasto spojen\u00fdm s chronick\u00fdmi z\u00e1n\u011btliv\u00fdmi stavy, jako je lichen sclerosus (LS). V souladu s t\u00edm jsou uzn\u00e1v\u00e1ny dva odli\u0161n\u00e9 podtypy VIN: HPV asociovan\u00e1 skvam\u00f3zn\u00ed intraepiteli\u00e1ln\u00ed l\u00e9ze vysok\u00e9ho stupn\u011b/obvykl\u00e1 VIN (HSIL/uVIN) a HPV neasociovan\u00e1 diferencovan\u00e1 VIN (dVIN). HSIL se klinicky pozn\u00e1 podle multifok\u00e1ln\u00edho bradavi\u010dnat\u00e9ho vzhledu a histologicky podle n\u00e1padn\u00fdch cytologick\u00fdch a architektonick\u00fdch atypi\u00ed. Diferencovan\u00e1 VIN naproti tomu \u010dasto vytv\u00e1\u0159\u00ed \u0161patn\u011b definovan\u00e9 l\u00e9ze a na histologii notoricky napodobuje nen\u00e1dorov\u00e9 epiteli\u00e1ln\u00ed poruchy (NNED), zejm\u00e9na LS. V d\u016fsledku toho je dVIN z\u0159\u00eddka identifikov\u00e1na d\u0159\u00edve, ne\u017e je diagnostikov\u00e1na invazivn\u00ed malignita, p\u0159esto\u017ee je prekurzorovou l\u00e9z\u00ed v\u011bt\u0161iny VSCC.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0032202", "predicate_id": "IAO:0000115", - "source_value": "Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognised: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC.", + "source_value": "Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognized: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC.", "source_language": "en", "translation_value": "Vulvar intraepitelyal neoplazi (VIN) geni\u015f olarak vulvar skuam\u00f6z h\u00fccre karsinomunun (VSHK) prekurs\u00f6r lezyonu olarak kabul edilmektedir. VSHK ya human papilloma vir\u00fcs\u00fc (HPV) ili\u015fkili yolak arac\u0131l\u0131\u011f\u0131 ile ya da daha s\u0131k olarak HPV'den ba\u011f\u0131ms\u0131z bir mekanizma arac\u0131l\u0131\u011f\u0131yla liken sklerozus (LS) gibi s\u0131kl\u0131kla kronik inflamatuvar durumlara ba\u011fl\u0131d\u0131r. Uygun olarak, iki ayr\u0131 VIN alt tipi tan\u0131mlanm\u0131\u015ft\u0131r: HPV-ili\u015fkili y\u00fcksek dereeli skuam\u00f6z intraepitelyal lezyon/ola\u011fan VIN (HSIL/uVIN) ve HPV-ili\u015fkili olmayan farkl\u0131la\u015fm\u0131\u015f VIN (dVIN). HSIL klinik olarak \u00e7oklu, si\u011fil benzeri g\u00f6r\u00fcn\u00fcm\u00fc ve histolojide dikkat \u00e7ekici sitolojik ve yap\u0131sal atipi ile tan\u0131mlan\u0131r. Farkl\u0131la\u015fm\u0131\u015f VIN, di\u011fer yandan s\u0131kl\u0131kla hastal\u0131kl\u0131 lezyonlar \u00fcretir ve histolojide herkesin bildi\u011fi gibi neoplastik olmayan epitelyal hastal\u0131\u011f\u0131 (NNED), \u00f6zellikle LS'yi taklit eder. Sonu\u00e7 olarak dVIN, VSHK'n\u0131n \u00e7o\u011funluk prek\u00fcrs\u00f6r lezyonu olmas\u0131na ra\u011fmen invazif maliganansinin tan\u0131s\u0131ndan \u00f6nce nadiren tan\u0131mlan\u0131r", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0032202", @@ -1024466,7 +1024466,7 @@ { "subject_id": "HP:0032272", "predicate_id": "IAO:0000115", - "source_value": "Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry.", + "source_value": "Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry", "source_language": "en", "translation_value": "Zv\u00fd\u0161en\u00e1 hladina kyseliny N-acetylasparagov\u00e9 (NAA) v mo\u010di. Tuto vlastnost lze m\u011b\u0159it pomoc\u00ed plynov\u00e9 chromatografie s hmotnostn\u00ed spektrometri\u00ed.", "translation_language": "cs", @@ -1024475,7 +1024475,7 @@ { "subject_id": "HP:0032272", "predicate_id": "IAO:0000115", - "source_value": "Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry.", + "source_value": "Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry", "source_language": "en", "translation_value": "\u0130drarda artm\u0131\u015f N-asetilaspartik asit (NAA). Bu \u00f6zellik gaz kromotografisi k\u00fctle spektrometresi kullan\u0131larak \u00f6l\u00e7\u00fclebilir", "translation_language": "tr", @@ -1024484,61 +1024484,61 @@ { "subject_id": "HP:0032272", "predicate_id": "rdfs:label", - "source_value": "Elevated urinary N-acetylaspartic acid level", + "source_value": "obsolete Elevated urinary N-acetylaspartic acid level", "source_language": "en", "translation_value": "Concentration urinaire \u00e9lev\u00e9e d'acide N-ac\u00e9tylaspartique", "translation_language": "fr", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "comment": "label of HP:0032272 (Elevated urinary N-acetylaspartic acid level) ; abnormality of metabolism/homeostasis ; abnormality of the genitourinary system" }, { "subject_id": "HP:0032272", "predicate_id": "rdfs:label", - "source_value": "Elevated urinary N-acetylaspartic acid level", + "source_value": "obsolete Elevated urinary N-acetylaspartic acid level", "source_language": "en", "translation_value": "Zv\u00fd\u0161en\u00e1 hladina kyseliny N-acetylasparagov\u00e9 v mo\u010di", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0032272", "predicate_id": "rdfs:label", - "source_value": "Elevated urinary N-acetylaspartic acid level", + "source_value": "obsolete Elevated urinary N-acetylaspartic acid level", "source_language": "en", "translation_value": "Artm\u0131\u015f idrar N-asetilaspartik asit seviyesi", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0032272", "predicate_id": "rdfs:label", - "source_value": "Elevated urinary N-acetylaspartic acid level", + "source_value": "obsolete Elevated urinary N-acetylaspartic acid level", "source_language": "en", "translation_value": "\u5c3fN-\u4e59\u9170\u5929\u95e8\u51ac\u6c28\u9178\u6c34\u5e73\u5347\u9ad8", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0032272", "predicate_id": "rdfs:label", - "source_value": "Elevated urinary N-acetylaspartic acid level", + "source_value": "obsolete Elevated urinary N-acetylaspartic acid level", "source_language": "en", "translation_value": "\u5c3f\u4e2dN-\u30a2\u30bb\u30c1\u30eb\u30a2\u30b9\u30d1\u30e9\u30ae\u30f3\u9178\u5024\u306e\u4e0a\u6607", "translation_language": "ja", "source_version": "http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl", "translation_date": "2023-07-31", "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0032272", "predicate_id": "rdfs:label", - "source_value": "Elevated urinary N-acetylaspartic acid level", + "source_value": "obsolete Elevated urinary N-acetylaspartic acid level", "source_language": "en", "translation_value": "Aumento de la concentraci\u00f3n de \u00e1cido N-acetilasp\u00e1rtico urinario", "translation_language": "es", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0032273", @@ -1033450,7 +1033450,7 @@ { "subject_id": "HP:0032456", "predicate_id": "IAO:0000115", - "source_value": "A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and grey matter.", + "source_value": "A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and gray matter.", "source_language": "en", "translation_value": "Typ lissencefalie, p\u0159i n\u00ed\u017e je p\u0159i neuropatologick\u00e9m vy\u0161et\u0159en\u00ed korov\u00e1 plot\u00e9nka siln\u011b dezorganizovan\u00e1 s v\u011bn\u010dit\u00fdm vzorem a bez laminace a jasn\u00e9ho ohrani\u010den\u00ed b\u00edl\u00e9 a \u0161ed\u00e9 hmoty.", "translation_language": "cs", @@ -1036799,7 +1036799,7 @@ { "subject_id": "HP:0032530", "predicate_id": "rdfs:label", - "source_value": "Decreased succinic semialdehyde dehydrogenase level", + "source_value": "Decreased tissue succinic semialdehyde dehydrogenase activity", "source_language": "en", "translation_value": "Sn\u00ed\u017een\u00e1 hladina koncentrace semialdehydu dehydrogen\u00e1zy", "translation_language": "cs", @@ -1036808,29 +1036808,29 @@ { "subject_id": "HP:0032530", "predicate_id": "rdfs:label", - "source_value": "Decreased succinic semialdehyde dehydrogenase level", + "source_value": "Decreased tissue succinic semialdehyde dehydrogenase activity", "source_language": "en", "translation_value": "\u7425\u73c0\u9178\u534a\u919b\u8131\u6c22\u9176\u6c34\u5e73\u964d\u4f4e", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0032530", "predicate_id": "rdfs:label", - "source_value": "Decreased succinic semialdehyde dehydrogenase level", + "source_value": "Decreased tissue succinic semialdehyde dehydrogenase activity", "source_language": "en", "translation_value": "\u30b3\u30cf\u30af\u9178\u30bb\u30df\u30a2\u30eb\u30c7\u30d2\u30c9\u8131\u6c34\u7d20\u9175\u7d20\u5024\u306e\u4f4e\u4e0b", "translation_language": "ja", "source_version": "http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl", "translation_date": "2023-07-31", "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0032530", "predicate_id": "rdfs:label", - "source_value": "Decreased succinic semialdehyde dehydrogenase level", + "source_value": "Decreased tissue succinic semialdehyde dehydrogenase activity", "source_language": "en", "translation_value": "Disminuci\u00f3n de la actividad de la semialdeh\u00eddo deshidrogenasa succ\u00ednica", "translation_language": "es", @@ -1044046,7 +1044046,7 @@ { "subject_id": "HP:0032679", "predicate_id": "IAO:0000115", - "source_value": "A type of focal-onset seizure characterized by non-motor signs or symptoms (or behaviour arrest) as its initial semiological manifestation.", + "source_value": "A type of focal-onset seizure characterized by non-motor signs or symptoms (or behavior arrest) as its initial semiological manifestation.", "source_language": "en", "translation_value": "Typ fok\u00e1ln\u00edho z\u00e1chvatu charakterizovan\u00fd nemotorick\u00fdmi p\u0159\u00edznaky nebo symptomy (nebo z\u00e1razy v chov\u00e1n\u00ed) jako po\u010d\u00e1te\u010dn\u00edm semiologick\u00fdm projevem.", "translation_language": "cs", @@ -1046731,7 +1046731,7 @@ { "subject_id": "HP:0032736", "predicate_id": "IAO:0000115", - "source_value": "Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behaviour.", + "source_value": "Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behavior.", "source_language": "en", "translation_value": "Fok\u00e1ln\u00ed emo\u010dn\u00ed z\u00e1chvat s hn\u011bvem je charakterizov\u00e1n p\u0159\u00edtomnost\u00ed hn\u011bvu jako vyj\u00e1d\u0159en\u00e9 nebo pozorovan\u00e9 emoce na za\u010d\u00e1tku z\u00e1chvatu. M\u016f\u017ee b\u00fdt doprov\u00e1zen agresivn\u00edm chov\u00e1n\u00edm.", "translation_language": "cs", @@ -1047662,7 +1047662,7 @@ { "subject_id": "HP:0032755", "predicate_id": "IAO:0000115", - "source_value": "A focal autonomic seizure characterised by impaired awareness at some point within the seizure.", + "source_value": "A focal autonomic seizure characterized by impaired awareness at some point within the seizure.", "source_language": "en", "translation_value": "Fok\u00e1ln\u00ed autonomn\u00ed z\u00e1chvat charakterizovan\u00fd poruchou v\u011bdom\u00ed v ur\u010dit\u00e9m okam\u017eiku z\u00e1chvatu", "translation_language": "cs", @@ -1048103,7 +1048103,7 @@ { "subject_id": "HP:0032764", "predicate_id": "IAO:0000115", - "source_value": "A type of focal autonomic seizure characterised by penile erection as the initial semiological feature.", + "source_value": "A type of focal autonomic seizure characterized by penile erection as the initial semiological feature.", "source_language": "en", "translation_value": "Typ fok\u00e1ln\u00edho autonomn\u00edho z\u00e1chvatu charakterizovan\u00fd erekc\u00ed penisu jako po\u010d\u00e1te\u010dn\u00edm semiologick\u00fdm p\u0159\u00edznakem", "translation_language": "cs", @@ -1049319,11 +1049319,11 @@ { "subject_id": "HP:0032789", "predicate_id": "IAO:0000115", - "source_value": "A focal behavior arrest seizure characterised by retained awareness throughout the seizure.", + "source_value": "A focal behavior arrest seizure characterized by retained awareness throughout the seizure.", "source_language": "en", "translation_value": "Fok\u00e1ln\u00ed z\u00e1chvat se z\u00e1razem v chov\u00e1n\u00ed charakterizovan\u00fd zachovan\u00fdm v\u011bdom\u00edm po celou dobu z\u00e1chvatu.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0032789", @@ -1049368,11 +1049368,11 @@ { "subject_id": "HP:0032790", "predicate_id": "IAO:0000115", - "source_value": "A focal behavior arrest seizure characterised by impaired awareness at some point during the seizure.", + "source_value": "A focal behavior arrest seizure characterized by impaired awareness at some point during the seizure.", "source_language": "en", "translation_value": "Fok\u00e1ln\u00ed z\u00e1chvat se z\u00e1razem v chov\u00e1n\u00ed charakterizovan\u00fd poruchou v\u011bdom\u00ed v ur\u010dit\u00e9m okam\u017eiku z\u00e1chvatu.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0032790", @@ -1049466,11 +1049466,11 @@ { "subject_id": "HP:0032792", "predicate_id": "IAO:0000115", - "source_value": "A tonic seizure is a type of motor seizure characterised by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.", + "source_value": "A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.", "source_language": "en", "translation_value": "Tonick\u00fd z\u00e1chvat je typ motorick\u00e9ho z\u00e1chvatu charakterizovan\u00fd jednostrann\u00fdm nebo oboustrann\u00fdm ztuhnut\u00edm nebo elevac\u00ed kon\u010detin, \u010dasto se ztuhnut\u00edm krku.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0032792", @@ -1049564,7 +1049564,7 @@ { "subject_id": "HP:0032794", "predicate_id": "IAO:0000115", - "source_value": "A myoclonic seizure is a type of motor seizure characterised by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.", + "source_value": "A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.", "source_language": "en", "translation_value": "Myoklonick\u00fd z\u00e1chvat je typ motorick\u00e9ho z\u00e1chvatu charakterizovan\u00fd n\u00e1hlou, kr\u00e1tkou (100 ms) mimovoln\u00ed kontrakc\u00ed jednoho nebo v\u00edce sval\u016f nebo svalov\u00fdch skupin s r\u016fznou topografi\u00ed (axi\u00e1ln\u00ed, proxim\u00e1ln\u00ed kon\u010detiny, dist\u00e1ln\u00ed). Myoklonus je m\u00e9n\u011b pravideln\u011b se opakuj\u00edc\u00ed a m\u00e9n\u011b trval\u00fd ne\u017e klonus.", "translation_language": "cs", @@ -1049613,7 +1049613,7 @@ { "subject_id": "HP:0032795", "predicate_id": "IAO:0000115", - "source_value": "A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterised by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus.", + "source_value": "A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterized by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus.", "source_language": "en", "translation_value": "Generalizovan\u00e9 myoklonicko-tonicko-klonick\u00e9 k\u0159e\u010de jsou typem generalizovan\u00e9 motorick\u00e9 k\u0159e\u010de charakterizovan\u00e9 jedn\u00edm nebo v\u00edce z\u00e1\u0161kuby kon\u010detin oboustrann\u011b, po nich\u017e n\u00e1sleduje tonick\u00e1 a klonick\u00e1 f\u00e1ze. Po\u010d\u00e1te\u010dn\u00ed z\u00e1\u0161kuby lze pova\u017eovat bu\u010f za kr\u00e1tk\u00e9 obdob\u00ed klonu, nebo za myoklonus.", "translation_language": "cs", @@ -1052335,7 +1052335,7 @@ { "subject_id": "HP:0032851", "predicate_id": "IAO:0000115", - "source_value": "A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis.", + "source_value": "A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis.", "source_language": "en", "translation_value": "Z\u00e1chvat charakterizovan\u00fd zrakov\u00fdmi halucinacemi, jako jsou blikaj\u00edc\u00ed sv\u011btla/barvy, tvary, jednoduch\u00e9 obrazce, skotomata nebo amaur\u00f3za.", "translation_language": "cs", @@ -1056054,7 +1056054,7 @@ { "subject_id": "HP:0032928", "predicate_id": "IAO:0000115", - "source_value": "Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large calibre myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases.", + "source_value": "Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large caliber myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases.", "source_language": "en", "translation_value": "Lehk\u00fd \u0159et\u011bzec neurofilament (NfL) je neuron\u00e1ln\u00ed cytoplazmatick\u00fd protein vysoce exprimovan\u00fd v myelinizovan\u00fdch axonech velk\u00e9ho kalibru. Jeho hladina se zvy\u0161uje v mozkom\u00ed\u0161n\u00edm moku (likvoru) a krvi \u00fam\u011brn\u011b stupni axon\u00e1ln\u00edho po\u0161kozen\u00ed u r\u016fzn\u00fdch neurologick\u00fdch poruch, v\u010detn\u011b z\u00e1n\u011btliv\u00fdch, neurodegenerativn\u00edch, traumatick\u00fdch a cerebrovaskul\u00e1rn\u00edch onemocn\u011bn", "translation_language": "cs", @@ -1062806,7 +1062806,7 @@ { "subject_id": "HP:0033068", "predicate_id": "IAO:0000115", - "source_value": "A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber colour. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance.", + "source_value": "A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber color. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance.", "source_language": "en", "translation_value": "R\u016fzn\u00e9 l\u00e9ky mohou p\u0159\u00edle\u017eitostn\u011b zp\u016fsobit p\u0159echodnou krystalurii, izolovan\u011b nebo ve spojen\u00ed s jin\u00fdmi abnormalitami mo\u010di. P\u0159ed\u00e1vkov\u00e1n\u00ed, dehydratace nebo hypoalbumin\u00e9mie, kter\u00e9 zvy\u0161uj\u00ed mno\u017estv\u00ed nenav\u00e1zan\u00e9ho l\u00e9\u010diva, kter\u00e9 je ultrafiltrov\u00e1no glomerulem, jsou faktory obvykle podporuj\u00edc\u00ed precipitaci krystal\u016f v lumen tubul\u016f. V n\u011bkter\u00fdch p\u0159\u00edpadech m\u00e1 medikament\u00f3zn\u00ed krystalurie typick\u00fd fenotypov\u00fd vzhled. Nap\u0159\u00edklad krystaly sulfadiazinu se jev\u00ed jako siln\u011b dvojlomn\u00e9 \u201estohy p\u0161enice\u201c nebo \u201esko\u0159\u00e1pky\u201c s jantarovou barvou. Krystaly acykloviru jsou dvojlomn\u00e9 a jehli\u010dkovit\u00e9, a kdy\u017e jsou hojn\u00e9, d\u00e1vaj\u00ed mo\u010di hedv\u00e1bn\u00fd a opaleskuj\u00edc\u00ed makroskopick\u00fd vzhled.", "translation_language": "cs", @@ -1065648,7 +1065648,7 @@ { "subject_id": "HP:0033126", "predicate_id": "IAO:0000115", - "source_value": "Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red coloured skin.", + "source_value": "Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red colored skin.", "source_language": "en", "translation_value": "Nekr\u00f3za k\u016f\u017ee a podko\u017en\u00ed tk\u00e1n\u011b (odum\u0159en\u00ed tk\u00e1n\u011b). Klinicky se ko\u017en\u00ed nekr\u00f3za m\u016f\u017ee projevovat jako bolestiv\u00e1 a extr\u00e9mn\u011b citliv\u00e1 \u010dern\u00e1 eschara (odum\u0159el\u00e1 tk\u00e1\u0148 v r\u00e1n\u011b v cel\u00e9 tlou\u0161\u0165ce) obklopen\u00e1 tmav\u011b \u0161edo\u010derven\u011b zbarvenou k\u016f\u017e\u00ed.", "translation_language": "cs", @@ -1076476,7 +1076476,7 @@ { "subject_id": "HP:0033349", "predicate_id": "IAO:0000115", - "source_value": "A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognisable by the primary clinician, carer or patient.", + "source_value": "A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognizable by the primary clinician, carer or patient.", "source_language": "en", "translation_value": "\u010cty\u0159n\u00e1sobn\u00e9 nebo v\u011bt\u0161\u00ed zv\u00fd\u0161en\u00ed obvykl\u00e9 frekvence z\u00e1chvat\u016f b\u011bhem t\u0159\u00eddenn\u00edho obdob\u00ed, kdy pacient prok\u00e1\u017ee \u00fapln\u00e9 zotaven\u00ed mezi jednotliv\u00fdmi z\u00e1chvaty v r\u00e1mci nakupen\u00ed. Nakupen\u00ed z\u00e1chvat\u016f by m\u011blo b\u00fdt rozpoznateln\u00e9 pro prim\u00e1rn\u00edho l\u00e9ka\u0159e, o\u0161et\u0159ovatele nebo pacienta.", "translation_language": "cs", @@ -1078877,7 +1078877,7 @@ { "subject_id": "HP:0033398", "predicate_id": "IAO:0000115", - "source_value": "Deposits of hyalinized collagen fibres in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs).", + "source_value": "Deposits of hyalinized collagen fibers in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs).", "source_language": "en", "translation_value": "Ulo\u017een\u00ed hyalinizovan\u00fdch kolagenn\u00edch vl\u00e1ken v pariet\u00e1ln\u00ed pleu\u0159e (p\u0159ednostn\u011b v pleu\u0159e p\u0159il\u00e9haj\u00edc\u00ed k \u017eebr\u016fm, zejm\u00e9na k \u0161est\u00e9mu a\u017e dev\u00e1t\u00e9mu \u017eebru).", "translation_language": "cs", @@ -1081122,7 +1081122,7 @@ { "subject_id": "HP:0033444", "predicate_id": "IAO:0000115", - "source_value": "Concentration of dodecanoylcarnitine in the blood circulation above the upper limit of normal.", + "source_value": "Concentration of dodecanoylcarnitine (C12:0) in the blood circulation above the upper limit of normal.", "source_language": "en", "translation_value": "Zv\u00fd\u0161en\u00e1 koncentrace dodekanoylkarnitinu v krevn\u00edm ob\u011bhu", "translation_language": "cs", @@ -1086297,7 +1086297,7 @@ { "subject_id": "HP:0033552", "predicate_id": "IAO:0000115", - "source_value": "Villitis of unknown etiology (synonymous with villitis of unknown aetiology) is a histologic diagnosis and, although it may have a variable distribution, evidence indicates that 3 parenchymal blocks will identify 62% of villitis, reaching an asymptote of 6 and 7 blocks identifying 85% of villitis. Villitis of unknown etiology by definition excludes those cases where an etiology is identified, such as viral or acute infections, and thus is preferred to the term nonspecific chronic villitis. It is usually lymphohistiocytic: although the presence of rare plasma cells does not exclude the diagnosis, thorough evaluation for an infectious etiology, such as cytomegalovirus, is required in a predominantly plasma cell villitis.", + "source_value": "Villitis of unknown etiology (synonymous with villitis of unknown etiology) is a histologic diagnosis and, although it may have a variable distribution, evidence indicates that 3 parenchymal blocks will identify 62% of villitis, reaching an asymptote of 6 and 7 blocks identifying 85% of villitis. Villitis of unknown etiology by definition excludes those cases where an etiology is identified, such as viral or acute infections, and thus is preferred to the term nonspecific chronic villitis. It is usually lymphohistiocytic: although the presence of rare plasma cells does not exclude the diagnosis, thorough evaluation for an infectious etiology, such as cytomegalovirus, is required in a predominantly plasma cell villitis.", "source_language": "en", "translation_value": "Z\u00e1n\u011bt choriov\u00fdch klk\u016f (vilitida) nezn\u00e1m\u00e9 etiologie je histologick\u00e1 diagn\u00f3za, a p\u0159esto\u017ee m\u016f\u017ee m\u00edt prom\u011bnnou distribuci, d\u016fkazy nazna\u010duj\u00ed, \u017ee 3 parenchym\u00e1ln\u00ed bloky identifikuj\u00ed 62 % vilitidy a dosahuj\u00ed asymptoty 6 a 7 blok\u016f identifikuj\u00edc\u00edch 85 % vilitidy. Vilitida nezn\u00e1m\u00e9 etiologie podle definice vylu\u010duje ty p\u0159\u00edpady, kdy je identifikov\u00e1na etiologie, jako jsou virov\u00e9 nebo akutn\u00ed infekce, a proto se j\u00ed d\u00e1v\u00e1 p\u0159ednost p\u0159ed term\u00ednem nespecifick\u00e1 chronick\u00e1 vilitida. Obvykle je lymfohistiocyt\u00e1rn\u00ed: a\u010dkoli p\u0159\u00edtomnost vz\u00e1cn\u00fdch plazmatick\u00fdch bun\u011bk nevylu\u010duje diagn\u00f3zu, u p\u0159ev\u00e1\u017en\u011b plazmatick\u00e9 vilitidy je nutn\u00e9 d\u016fkladn\u00e9 vy\u0161et\u0159en\u00ed infek\u010dn\u00ed etiologie, jako je cytomegalovirus.", "translation_language": "cs", @@ -1087571,7 +1087571,7 @@ { "subject_id": "HP:0033578", "predicate_id": "IAO:0000115", - "source_value": "Pre-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg).", + "source_value": "Pre-capillary pulmonary hypertension is a haemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg).", "source_language": "en", "translation_value": "Prekapil\u00e1rn\u00ed plicn\u00ed hypertenze je hemodynamick\u00fd stav charakterizovan\u00fd zv\u00fd\u0161en\u00fdm st\u0159edn\u00edm tlakem v plicnici (mPAP nad 20 mmHg) a plicn\u00edm c\u00e9vn\u00edm odporem (PVR 3 Woodovy jednotky nebo v\u00edce) doprov\u00e1zen\u00fdm norm\u00e1ln\u00edm tlakem v zakl\u00edn\u011bn\u00ed plicnice (PAWP nejv\u00fd\u0161e 15 mmHg).", "translation_language": "cs", @@ -1087669,7 +1087669,7 @@ { "subject_id": "HP:0033580", "predicate_id": "IAO:0000115", - "source_value": "An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibres in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fibre action potentials. The shortest latency of the CMAP is the time from stimulus artefact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV).", + "source_value": "An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibers in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fiber action potentials. The shortest latency of the CMAP is the time from stimulus artifact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV).", "source_language": "en", "translation_value": "Abnorm\u00e1ln\u00ed n\u00e1lez p\u0159i m\u011b\u0159en\u00ed suma\u010dn\u00edho ak\u010dn\u00edho potenci\u00e1lu u EMG. Studie nervov\u00e9ho veden\u00ed zahrnuj\u00ed aplikaci depolarizuj\u00edc\u00edch elektrick\u00fdch pulz\u016f vln obd\u00e9lnikov\u00e9ho pr\u016fb\u011bhu na k\u016f\u017ei p\u0159es perifern\u00ed nerv, \u010d\u00edm\u017e se vytvo\u0159\u00ed: (1) \u0161\u00ed\u0159\u00edc\u00ed se nervov\u00fd ak\u010dn\u00ed potenci\u00e1l (NAP) zaznamenan\u00fd ve vzd\u00e1len\u00e9m bod\u011b stejn\u00e9ho nervu: a (2) sum\u00e1rn\u00ed ak\u010dn\u00ed potenci\u00e1l svalu (CMAP) vznikaj\u00edc\u00ed aktivac\u00ed svalov\u00fdch vl\u00e1ken v c\u00edlov\u00e9m svalu z\u00e1sobovan\u00e9m nervem. Oba druhy mohou b\u00fdt zaznamen\u00e1ny povrchov\u00fdmi nebo jehlov\u00fdmi elektrodami. CMAP je souhrnn\u00e1 nap\u011b\u0165ov\u00e1 odezva z jednotliv\u00fdch ak\u010dn\u00edch potenci\u00e1l\u016f svalov\u00fdch vl\u00e1ken. Nejkrat\u0161\u00ed latence CMAP je doba od stimula\u010dn\u00edho artefaktu do n\u00e1stupu odpov\u011bdi a jedn\u00e1 se o dvouf\u00e1zovou odezvu s po\u010d\u00e1te\u010dn\u00ed v\u00fdchylkou nahoru, po n\u00ed\u017e n\u00e1sleduje men\u0161\u00ed v\u00fdchylka dol\u016f. Amplituda CMAP se m\u011b\u0159\u00ed od z\u00e1kladn\u00ed \u010d\u00e1ry po z\u00e1pornou \u0161pi\u010dku (neurofyziologick\u00e1 konvence je, \u017ee z\u00e1porn\u00e9 nap\u011bt\u00ed se projevuje odchylkou sm\u011brem nahoru) a m\u011b\u0159\u00ed se v milivoltech (mV).", "translation_language": "cs", @@ -1089286,7 +1089286,7 @@ { "subject_id": "HP:0033613", "predicate_id": "IAO:0000115", - "source_value": "Solid, homogenous nodules characterised by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes.", + "source_value": "Solid, homogenous nodules characterized by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes.", "source_language": "en", "translation_value": "Pevn\u00e9, homogenn\u00ed noduly vyzna\u010duj\u00edc\u00ed se hladk\u00fdm okrajem a ov\u00e1ln\u00fdm, zaoblen\u00fdm, lentiformn\u00edm nebo troj\u00faheln\u00edkov\u00fdm tvarem. Obvykle se nach\u00e1zej\u00ed do 15 mm od abnormality nebo od pleury. Perifisur\u00e1ln\u00ed noduly lze d\u00e1le rozli\u0161ovat na typick\u00e9 (maj\u00ed kontakt s interlob\u00e1rn\u00ed p\u0159ep\u00e1\u017ekou) a atypick\u00e9 (nemaj\u00ed kontakt s interlob\u00e1rn\u00ed p\u0159ep\u00e1\u017ekou). Pravd\u011bpodobn\u011b p\u0159edstavuj\u00ed intrapulmon\u00e1ln\u00ed lymfatick\u00e9 uzliny.", "translation_language": "cs", @@ -1090364,7 +1090364,7 @@ { "subject_id": "HP:0033635", "predicate_id": "IAO:0000115", - "source_value": "Post-capillary pulmonary hypertension is a hemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units).", + "source_value": "Post-capillary pulmonary hypertension is a hemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units).", "source_language": "en", "translation_value": "Postkapil\u00e1rn\u00ed plicn\u00ed hypertenze je hemodynamick\u00fd stav charakterizovan\u00fd zv\u00fd\u0161en\u00fdm st\u0159edn\u00edm tlakem v plicnici (mPAP v\u011bt\u0161\u00ed ne\u017e 20 mmHg) a tlakem v zakl\u00edn\u011bn\u00ed plicnice (PAWP v\u011bt\u0161\u00ed ne\u017e 15 mmHg) a plicn\u00ed vaskul\u00e1rn\u00ed rezistenc\u00ed (PVR men\u0161\u00ed ne\u017e 3 Woodovy jednotky).", "translation_language": "cs", @@ -1090413,7 +1090413,7 @@ { "subject_id": "HP:0033636", "predicate_id": "IAO:0000115", - "source_value": "Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units).", + "source_value": "Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units).", "source_language": "en", "translation_value": "Kombinovan\u00e1 pre- a postkapil\u00e1rn\u00ed plicn\u00ed hypertenze je hemodynamick\u00fd stav charakterizovan\u00fd zv\u00fd\u0161en\u00fdm st\u0159edn\u00edm tlakem v plicnici (mPAP nad 20 mmHg) a tlakem v zakl\u00edn\u011bn\u00ed plicnice (PAWP nad 15 mmHg) a plicn\u00ed vaskul\u00e1rn\u00ed rezistenc\u00ed (PVR alespo\u0148 3 Woddovy jednotky).", "translation_language": "cs", @@ -1092542,7 +1092542,7 @@ { "subject_id": "HP:0033680", "predicate_id": "IAO:0000115", - "source_value": "The most common form of astrocytoma (WHO Grade I) in childhood. These typically have MAPK signalling pathway abnormalities.", + "source_value": "The most common form of astrocytoma (WHO Grade I) in childhood. These typically have MAPK signaling pathway abnormalities.", "source_language": "en", "translation_value": "Nej\u010dast\u011bj\u0161\u00ed forma astrocytomu (WHO grade I) v d\u011btsk\u00e9m v\u011bku. Obvykle se u nich vyskytuj\u00ed abnormality sign\u00e1ln\u00ed dr\u00e1hy MAPK.", "translation_language": "cs", @@ -1117558,7 +1117558,7 @@ { "subject_id": "HP:0034192", "predicate_id": "IAO:0000115", - "source_value": "Pulmonary embolism is caused by emboli, which have originated from venous thrombi, travelling to and occluding the arteries of the lung.", + "source_value": "Pulmonary embolism is caused by emboli, which have originated from venous thrombi, traveling to and occluding the arteries of the lung.", "source_language": "en", "translation_value": "Plicn\u00ed embolie je zp\u016fsobena emboliemi, kter\u00e9 poch\u00e1zej\u00ed z \u017eiln\u00edch tromb\u016f, putuj\u00ed do plicn\u00edch tepen a ucp\u00e1vaj\u00ed je.", "translation_language": "cs", @@ -1122930,7 +1122930,7 @@ { "subject_id": "HP:0034302", "predicate_id": "IAO:0000115", - "source_value": "A congenitally anomalous enlarged optic disk (surface area greater than 2.50 square millimeters). It is considered to be a normal variant without physiological defects.", + "source_value": "A congenitally anomalous enlarged optic disc (surface area greater than 2.50 square millimeters). It is considered to be a normal variant without physiological defects.", "source_language": "en", "translation_value": "Vrozen\u011b anom\u00e1ln\u011b zv\u011bt\u0161en\u00fd optick\u00fd disk (plocha v\u011bt\u0161\u00ed ne\u017e 2,50 milimetru \u010dtvere\u010dn\u00edch). Pova\u017euje se za norm\u00e1ln\u00ed variantu bez fyziologick\u00fdch defekt\u016f.", "translation_language": "cs", @@ -1127081,7 +1127081,7 @@ { "subject_id": "HP:0034388", "predicate_id": "IAO:0000115", - "source_value": "Hilar lymphadenopathy is swelling or enlargement of lymph nodes localised in hila, wedge-shaped anatomical structures containing pulmonary vessels, major bronchi, nerves and lymph nodes. Hilar lymph nodes are not visible on chest X-ray if they are not enlarged. Hilar lymph node enlargement can be caused by benign and malignant conditions and can be symmetrical (bilateral) or asymmetrical (unilateral).", + "source_value": "Hilar lymphadenopathy is swelling or enlargement of lymph nodes localized in hila, wedge-shaped anatomical structures containing pulmonary vessels, major bronchi, nerves and lymph nodes. Hilar lymph nodes are not visible on chest X-ray if they are not enlarged. Hilar lymph node enlargement can be caused by benign and malignant conditions and can be symmetrical (bilateral) or asymmetrical (unilateral).", "source_language": "en", "translation_value": "Hilov\u00e1 lymfadenopatie je zdu\u0159en\u00ed nebo zv\u011bt\u0161en\u00ed lymfatick\u00fdch uzlin lokalizovan\u00fdch v hilu, kl\u00ednovit\u00e9 anatomick\u00e9 struktu\u0159e obsahuj\u00edc\u00ed plicn\u00ed c\u00e9vy, hlavn\u00ed pr\u016fdu\u0161ky, nervy a lymfatick\u00e9 uzliny. Hilov\u00e9 lymfatick\u00e9 uzliny nejsou na rentgenov\u00e9m sn\u00edmku hrudn\u00edku viditeln\u00e9, pokud nejsou zv\u011bt\u0161en\u00e9. Zv\u011bt\u0161en\u00ed hilov\u00fdch lymfatick\u00fdch uzlin m\u016f\u017ee b\u00fdt zp\u016fsobeno benign\u00edmi i malign\u00edmi stavy a m\u016f\u017ee b\u00fdt symetrick\u00e9 (oboustrann\u00e9) nebo asymetrick\u00e9 (jednostrann\u00e9).", "translation_language": "cs", @@ -1127130,7 +1127130,7 @@ { "subject_id": "HP:0034389", "predicate_id": "IAO:0000115", - "source_value": "Pulmonary vein varix (PVV), refers to a localised dilatation of a pulmonary vein. PVV is a rare condition and can be congenital or acquired. PVV typically occur at the confluence of the veins adjacent to the left atrium. PVVs are sometimes classified into three morphological types: saccular, tortuous and confluent.", + "source_value": "Pulmonary vein varix (PVV), refers to a localized dilatation of a pulmonary vein. PVV is a rare condition and can be congenital or acquired. PVV typically occur at the confluence of the veins adjacent to the left atrium. PVVs are sometimes classified into three morphological types: saccular, tortuous and confluent.", "source_language": "en", "translation_value": "Varixy plicn\u00edch \u017eil jsou lokalizovan\u00e9 dilatace plicn\u00edch \u017eil. Jde o vz\u00e1cn\u00fd stav, kter\u00fd m\u016f\u017ee b\u00fdt vrozen\u00fd, nebo z\u00edskan\u00fd. Obvykle se vyskytuj\u00ed na soutoku \u017eil p\u0159il\u00e9haj\u00edc\u00edch k lev\u00e9 s\u00edni. N\u011bkdy se d\u011bl\u00ed na t\u0159i morfologick\u00e9 typy: vakovit\u00e9, tortu\u00f3zn\u00ed a spl\u00fdvaj\u00edc\u00ed.", "translation_language": "cs", @@ -1142825,24 +1142825,24 @@ { "subject_id": "HP:0034995", "predicate_id": "rdfs:label", - "source_value": "Reduced hepatic fructose-1,6-bisphosphatase activity", + "source_value": "Reduced tissue fructose-1,6-bisphosphatase activity", "source_language": "en", "translation_value": "\u809d\u30d5\u30eb\u30af\u30c8\u30fc\u30b9-1,6-\u30d3\u30b9\u30db\u30b9\u30d5\u30a1\u30bf\u30fc\u30bc\u6d3b\u6027\u306e\u4f4e\u4e0b", "translation_language": "ja", "source_version": "http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl", "translation_date": "2023-07-31", "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0034995", "predicate_id": "rdfs:label", - "source_value": "Reduced hepatic fructose-1,6-bisphosphatase activity", + "source_value": "Reduced tissue fructose-1,6-bisphosphatase activity", "source_language": "en", "translation_value": "Disminuci\u00f3n de la actividad de la fructosa-1,6-bisfosfatasa hep\u00e1tica", "translation_language": "es", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0034996", @@ -1146559,7 +1146559,7 @@ { "subject_id": "HP:0040057", "predicate_id": "rdfs:label", - "source_value": "Abnormality of nasal hair", + "source_value": "Abnormal nasal hair morphology", "source_language": "en", "translation_value": "Afwijking van nasale haar", "translation_language": "nl", @@ -1146568,61 +1146568,61 @@ { "subject_id": "HP:0040057", "predicate_id": "rdfs:label", - "source_value": "Abnormality of nasal hair", + "source_value": "Abnormal nasal hair morphology", "source_language": "en", "translation_value": "Anomalie des poils du nez", "translation_language": "fr", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "comment": "label of HP:0040057 (Abnormality of nasal hair) ; abnormality of the integument ; abnormality of head or neck" }, { "subject_id": "HP:0040057", "predicate_id": "rdfs:label", - "source_value": "Abnormality of nasal hair", + "source_value": "Abnormal nasal hair morphology", "source_language": "en", "translation_value": "Abnormalita chloupk\u016f v nose", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0040057", "predicate_id": "rdfs:label", - "source_value": "Abnormality of nasal hair", + "source_value": "Abnormal nasal hair morphology", "source_language": "en", "translation_value": "Burun k\u0131l\u0131 anormalli\u011fi", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0040057", "predicate_id": "rdfs:label", - "source_value": "Abnormality of nasal hair", + "source_value": "Abnormal nasal hair morphology", "source_language": "en", "translation_value": "\u9f3b\u6bdb\u5f02\u5e38", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0040057", "predicate_id": "rdfs:label", - "source_value": "Abnormality of nasal hair", + "source_value": "Abnormal nasal hair morphology", "source_language": "en", "translation_value": "\u9f3b\u6bdb\u306e\u7570\u5e38", "translation_language": "ja", "source_version": "http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl", "translation_date": "2023-07-31", "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0040057", "predicate_id": "rdfs:label", - "source_value": "Abnormality of nasal hair", + "source_value": "Abnormal nasal hair morphology", "source_language": "en", "translation_value": "Anomal\u00eda del pelo nasal", "translation_language": "es", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0040059", @@ -1150932,7 +1150932,7 @@ { "subject_id": "HP:0040130", "predicate_id": "rdfs:label", - "source_value": "Abnormal serum iron concentration", + "source_value": "Abnormal circulating iron concentration", "source_language": "en", "translation_value": "Afwijkend serum ijzer", "translation_language": "nl", @@ -1150941,61 +1150941,61 @@ { "subject_id": "HP:0040130", "predicate_id": "rdfs:label", - "source_value": "Abnormal serum iron concentration", + "source_value": "Abnormal circulating iron concentration", "source_language": "en", "translation_value": "Taux plasmatique anormal de fer", "translation_language": "fr", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "comment": "label of HP:0040130 (Abnormal serum iron concentration) ; abnormality of metabolism/homeostasis" }, { "subject_id": "HP:0040130", "predicate_id": "rdfs:label", - "source_value": "Abnormal serum iron concentration", + "source_value": "Abnormal circulating iron concentration", "source_language": "en", "translation_value": "Abnorm\u00e1ln\u00ed koncentrace \u017eeleza v s\u00e9ru", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0040130", "predicate_id": "rdfs:label", - "source_value": "Abnormal serum iron concentration", + "source_value": "Abnormal circulating iron concentration", "source_language": "en", "translation_value": "Anormal serum demiri", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0040130", "predicate_id": "rdfs:label", - "source_value": "Abnormal serum iron concentration", + "source_value": "Abnormal circulating iron concentration", "source_language": "en", "translation_value": "\u8840\u6e05\u94c1\u5f02\u5e38", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0040130", "predicate_id": "rdfs:label", - "source_value": "Abnormal serum iron concentration", + "source_value": "Abnormal circulating iron concentration", "source_language": "en", "translation_value": "\u8840\u6e05\u9244\u6fc3\u5ea6\u7570\u5e38", "translation_language": "ja", "source_version": "http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl", "translation_date": "2023-07-31", "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0040130", "predicate_id": "rdfs:label", - "source_value": "Abnormal serum iron concentration", + "source_value": "Abnormal circulating iron concentration", "source_language": "en", "translation_value": "Hierro s\u00e9rico anormal", "translation_language": "es", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0040131", @@ -1151770,16 +1151770,16 @@ { "subject_id": "HP:0040142", "predicate_id": "IAO:0000115", - "source_value": "Decreased level of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate.", + "source_value": "Activity or concentration of 5-oxoprolinase in the blood circulation below the lower limit of normal. This enzyme catalyzes the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate.", "source_language": "en", "translation_value": "Sn\u00ed\u017een\u00e1 aktivita reakce 5-oxo-L-prolin + ATP + 2 H(2)O = L-glutam\u00e1t + ADP + 2 H(+) + fosf\u00e1t", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0040142", "predicate_id": "IAO:0000115", - "source_value": "Decreased level of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate.", + "source_value": "Activity or concentration of 5-oxoprolinase in the blood circulation below the lower limit of normal. This enzyme catalyzes the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate.", "source_language": "en", "translation_value": "5-okso-L-prolin + ATP + 2 H(2)O = L-glutamat + ADP + 2 H(+) + fosfat reaksiyonunun azalm\u0131\u015f aktivitesi", "translation_language": "tr", @@ -1151788,7 +1151788,7 @@ { "subject_id": "HP:0040142", "predicate_id": "rdfs:label", - "source_value": "Reduced 5-oxoprolinase level", + "source_value": "Reduced circulating 5-oxoprolinase activity", "source_language": "en", "translation_value": "5-oxoprolinase defici\u00ebntie", "translation_language": "nl", @@ -1151797,7 +1151797,7 @@ { "subject_id": "HP:0040142", "predicate_id": "rdfs:label", - "source_value": "Reduced 5-oxoprolinase level", + "source_value": "Reduced circulating 5-oxoprolinase activity", "source_language": "en", "translation_value": "Diminution de l'activit\u00e9 5-oxoprolinase", "translation_language": "fr", @@ -1151807,16 +1151807,16 @@ { "subject_id": "HP:0040142", "predicate_id": "rdfs:label", - "source_value": "Reduced 5-oxoprolinase level", + "source_value": "Reduced circulating 5-oxoprolinase activity", "source_language": "en", "translation_value": "Sn\u00ed\u017een\u00e1 hladina 5-oxoprolin\u00e1zy", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0040142", "predicate_id": "rdfs:label", - "source_value": "Reduced 5-oxoprolinase level", + "source_value": "Reduced circulating 5-oxoprolinase activity", "source_language": "en", "translation_value": "5-okzoprolinaz eksikli\u011fi", "translation_language": "tr", @@ -1151825,29 +1151825,29 @@ { "subject_id": "HP:0040142", "predicate_id": "rdfs:label", - "source_value": "Reduced 5-oxoprolinase level", + "source_value": "Reduced circulating 5-oxoprolinase activity", "source_language": "en", "translation_value": "5-\u7f9f\u812f\u6c28\u9178\u9176\u7f3a\u4e4f\u75c7", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0040142", "predicate_id": "rdfs:label", - "source_value": "Reduced 5-oxoprolinase level", + "source_value": "Reduced circulating 5-oxoprolinase activity", "source_language": "en", "translation_value": "5-\u30aa\u30ad\u30bd\u30d7\u30ed\u30ea\u30ca\u30fc\u30bc\u5024\u306e\u4f4e\u4e0b", "translation_language": "ja", "source_version": "http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl", "translation_date": "2023-07-31", "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0040142", "predicate_id": "rdfs:label", - "source_value": "Reduced 5-oxoprolinase level", + "source_value": "Reduced circulating 5-oxoprolinase activity", "source_language": "en", "translation_value": "Deficiencia de 5-oxoprolinasa", "translation_language": "es", @@ -1152309,7 +1152309,7 @@ { "subject_id": "HP:0040149", "predicate_id": "IAO:0000115", - "source_value": "The presence of woolly hair on the scalp. The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.", + "source_value": "The presence of wooly hair on the scalp. The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.", "source_language": "en", "translation_value": "P\u0159\u00edtomnost vlnit\u00fdch vlas\u016f na poko\u017ece hlavy. Term\u00edn vlnit\u00e9 vlasy ozna\u010duje abnorm\u00e1ln\u00ed variantu vlas\u016f, kter\u00e9 jsou jemn\u00e9, s pevn\u011b sto\u010den\u00fdmi kade\u0159emi a \u010dasto hypopigmentovan\u00e9. Optick\u00e1 mikroskopie m\u016f\u017ee odhalit p\u0159\u00edtomnost t\u011bsn\u00fdch spir\u00e1l a z\u0159eteln\u00e9 zmen\u0161en\u00ed pr\u016fm\u011bru ve srovn\u00e1n\u00ed s norm\u00e1ln\u00edmi vlasy. Elektronov\u00e1 mikroskopie m\u016f\u017ee uk\u00e1zat ploch\u00e9, ov\u00e1ln\u00e9 vlasov\u00e9 stvoly se zmen\u0161en\u00fdm p\u0159\u00ed\u010dn\u00fdm pr\u016fm\u011brem.", "translation_language": "cs", @@ -1163936,7 +1163936,7 @@ { "subject_id": "HP:0040303", "predicate_id": "rdfs:label", - "source_value": "Decreased serum iron", + "source_value": "Decreased circulating iron concentration", "source_language": "en", "translation_value": "Verminderd serum ijzer", "translation_language": "nl", @@ -1163945,61 +1163945,61 @@ { "subject_id": "HP:0040303", "predicate_id": "rdfs:label", - "source_value": "Decreased serum iron", + "source_value": "Decreased circulating iron concentration", "source_language": "en", "translation_value": "Decreased serum iron", "translation_language": "fr", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "comment": "label of HP:0040303 (Decreased serum iron) ; abnormality of metabolism/homeostasis" }, { "subject_id": "HP:0040303", "predicate_id": "rdfs:label", - "source_value": "Decreased serum iron", + "source_value": "Decreased circulating iron concentration", "source_language": "en", "translation_value": "Sn\u00ed\u017een\u00e9 s\u00e9rov\u00e9ho \u017eeleza", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0040303", "predicate_id": "rdfs:label", - "source_value": "Decreased serum iron", + "source_value": "Decreased circulating iron concentration", "source_language": "en", "translation_value": "Azalm\u0131\u015f serum demiri", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0040303", "predicate_id": "rdfs:label", - "source_value": "Decreased serum iron", + "source_value": "Decreased circulating iron concentration", "source_language": "en", "translation_value": "\u8840\u6e05\u94c1\u4e0b\u964d", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0040303", "predicate_id": "rdfs:label", - "source_value": "Decreased serum iron", + "source_value": "Decreased circulating iron concentration", "source_language": "en", "translation_value": "\u8840\u6e05\u9244\u306e\u6e1b\u5c11", "translation_language": "ja", "source_version": "http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl", "translation_date": "2023-07-31", "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0040303", "predicate_id": "rdfs:label", - "source_value": "Decreased serum iron", + "source_value": "Decreased circulating iron concentration", "source_language": "en", "translation_value": "Disminuci\u00f3n del hierro s\u00e9rico", "translation_language": "es", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0040304", @@ -1180666,20 +1180666,20 @@ { "subject_id": "HP:0100021", "predicate_id": "IAO:0000115", - "source_value": "Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems.", + "source_value": "Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems.", "source_language": "en", "translation_value": "Pojem mozkov\u00e1 obrna ozna\u010duje skupinu trval\u00fdch poruch v\u00fdvoje motoriky a dr\u017een\u00ed t\u011bla, kter\u00e9 vede k omezen\u00ed aktivity. Tyto poruchy jsou neprogresivn\u00ed a jsou d\u016fsledkem inzultu po\u0161kozuj\u00edc\u00edho v\u00fdvoj mozku plodu nebo kojence. Motorick\u00e9 poruchy p\u0159i mozkov\u00e9 obrn\u011b jsou \u010dasto prov\u00e1zeny poruchami smysl\u016f, percepce, kognice, komunikace, chov\u00e1n\u00ed a epilepsi\u00ed a sekund\u00e1rn\u00edmi muskuloskelet\u00e1ln\u00edmi probl\u00e9my", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0100021", "predicate_id": "IAO:0000115", - "source_value": "Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems.", + "source_value": "Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems.", "source_language": "en", "translation_value": "Beyin felci, geli\u015fmekte olan fet\u00fcs veya bebek beyninde meydana gelen ilerlemeyen bozukluklara atfedilen, hareket ve duru\u015fun geli\u015fmesindeki kal\u0131c\u0131 bozukluklar\u0131n bir grubunu, aktivite s\u0131n\u0131rlamas\u0131na neden olarak tan\u0131mlar. Beyin felcinin motor bozukluklar\u0131na, genellikle duyumsama, alg\u0131lama, bili\u015f, ileti\u015fim ve davran\u0131\u015f bozukluklar\u0131, epilepsi ve ikincil kas-iskelet problemleri e\u015flik eder", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0100021", @@ -1196548,20 +1196548,20 @@ { "subject_id": "HP:0100241", "predicate_id": "IAO:0000115", - "source_value": "Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations.", + "source_value": "Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localized unilateral in the skin of the forearm and associated with ipsilateral hand malformations.", "source_language": "en", "translation_value": "Ektopick\u00fd respira\u010dn\u00ed epitel, kter\u00fd se projevuje jako povrchov\u00e1 ko\u017en\u00ed l\u00e9ze obvykle jednostrann\u011b lokalizovan\u00e1 v k\u016f\u017ei p\u0159edlokt\u00ed a spojen\u00e1 s ipsilater\u00e1ln\u00edmi malformacemi ruky", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0100241", "predicate_id": "IAO:0000115", - "source_value": "Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations.", + "source_value": "Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localized unilateral in the skin of the forearm and associated with ipsilateral hand malformations.", "source_language": "en", "translation_value": "Ciltte y\u00fczeysel bir lezyon olarak g\u00f6r\u00fclen ektopik solunum yolu epiteli, genellikle \u00f6nkol derisinde tek tarafl\u0131 lokalizasyonu g\u00f6sterir ve ayn\u0131 taraftaki el kusurlar\u0131 ile ili\u015fkilidir", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0100241", @@ -1199293,20 +1199293,20 @@ { "subject_id": "HP:0100274", "predicate_id": "IAO:0000115", - "source_value": "Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal.", + "source_value": "Gustatory lacrimation results from an aberrant innervation of fibers from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal.", "source_language": "en", "translation_value": "Gustatorn\u00ed lakrimace vznik\u00e1 kv\u016fli aberantn\u00ed inervaci vl\u00e1ken sedm\u00e9ho hlavov\u00e9ho nervu do pterygopalatinn\u00edho ganglion m\u00edsto submandibul\u00e1rn\u00edho ganglion. Toto vede k nekontrolovan\u00e9mu slzen\u00ed p\u0159i j\u00eddle nebo p\u0159i o\u010dek\u00e1v\u00e1n\u00ed j\u00eddla.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0100274", "predicate_id": "IAO:0000115", - "source_value": "Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal.", + "source_value": "Gustatory lacrimation results from an aberrant innervation of fibers from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal.", "source_language": "en", "translation_value": "Tat duyusu ile g\u00f6z ya\u015f\u0131 salg\u0131lanmas\u0131 normalde submandib\u00fcler gangliyon i\u00e7in g\u00f6nderilen yedinci kafa sinir liflerinin pterigopalantin gangliyona gitti\u011fi atipik uyar\u0131lmadan kaynaklanmaktad\u0131r. Bu atipik uyar\u0131m yerken veya yemek beklerken kontrols\u00fcz g\u00f6z ya\u015farmas\u0131na yol a\u00e7maktad\u0131r", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0100274", @@ -1203190,20 +1203190,20 @@ { "subject_id": "HP:0100326", "predicate_id": "IAO:0000115", - "source_value": "Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens.", + "source_value": "Immunological states where the immune system produces harmful responses upon reexposure to sensitizing antigens.", "source_language": "en", "translation_value": "Imunologick\u00e9 stavy, kdy imunitn\u00ed syst\u00e9m reaguje \u0161kodliv\u00fdmi reakcemi v p\u0159\u00edpad\u011b opakovan\u00e9 expozici senzibilizuj\u00edc\u00edmi antigeny", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0100326", "predicate_id": "IAO:0000115", - "source_value": "Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens.", + "source_value": "Immunological states where the immune system produces harmful responses upon reexposure to sensitizing antigens.", "source_language": "en", "translation_value": "Duyarl\u0131l\u0131k olu\u015fturan antijenlere yeniden maruziyeti takiben ba\u011f\u0131\u015f\u0131kl\u0131k sisteminin zararl\u0131 yan\u0131tlar \u00fcretti\u011fi imm\u00fcnolojik durumlar", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0100326", @@ -1230997,20 +1230997,20 @@ { "subject_id": "HP:0100685", "predicate_id": "IAO:0000115", - "source_value": "An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone.", + "source_value": "An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibers connecting periosteum to bone.", "source_language": "en", "translation_value": "Anom\u00e1lie Sharpeyov\u00fdch vl\u00e1ken (kostn\u00edch vl\u00e1ken nebo perforuj\u00edc\u00edch vl\u00e1ken), co\u017e je matrix pojivov\u00e9 tk\u00e1n\u011b tvo\u0159en\u00e1 svazky siln\u00fdch kolagenn\u00edch vl\u00e1ken spojuj\u00edc\u00edch periost s kost\u00ed.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0100685", "predicate_id": "IAO:0000115", - "source_value": "An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone.", + "source_value": "An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibers connecting periosteum to bone.", "source_language": "en", "translation_value": "Periosteumu kemi\u011fe ba\u011flayan g\u00fc\u00e7l\u00fc kolajen lif demetlerinden olu\u015fan ba\u011f dokusunun bir matrisi olan Sharpey liflerinin (kemik lifleri veya delici lifler) bir anormalli\u011fi", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0100685", @@ -1241808,16 +1241808,16 @@ { "subject_id": "HP:0100832", "predicate_id": "IAO:0000115", - "source_value": "Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent.", + "source_value": "Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humor, which is normally transparent.", "source_language": "en", "translation_value": "Depozit\u00e1 r\u016fzn\u00e9 velikosti, tvaru, konzistence, refrak\u010dn\u00edho indexu a pohyblivosti v r\u00e1mci o\u010dn\u00edho sklivce, kter\u00fd je za norm\u00e1ln\u00edch okolnost\u00ed pr\u016fhledn\u00fd.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0100832", "predicate_id": "IAO:0000115", - "source_value": "Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent.", + "source_value": "Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humor, which is normally transparent.", "source_language": "en", "translation_value": "Normalde \u015feffaf olan g\u00f6z\u00fcn vitr\u00f6z mizah\u0131ndaki \u00e7e\u015fitli boyut, \u015fekil, tutarl\u0131l\u0131k, k\u0131r\u0131lma indeksi ve hareketlili\u011fin biriktirilmesi", "translation_language": "tr", @@ -1251780,7 +1251780,7 @@ { "subject_id": "HP:0100962", "predicate_id": "rdfs:label", - "source_value": "Shyness", + "source_value": "Excessive shyness", "source_language": "en", "translation_value": "Verlegenheid", "translation_language": "nl", @@ -1251789,44 +1251789,44 @@ { "subject_id": "HP:0100962", "predicate_id": "rdfs:label", - "source_value": "Shyness", + "source_value": "Excessive shyness", "source_language": "en", "translation_value": "Timidit\u00e9", "translation_language": "fr", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "comment": "label of HP:0100962 (Shyness) ; abnormality of the nervous system" }, { "subject_id": "HP:0100962", "predicate_id": "rdfs:label", - "source_value": "Shyness", + "source_value": "Excessive shyness", "source_language": "en", "translation_value": "Plachost", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0100962", "predicate_id": "rdfs:label", - "source_value": "Shyness", + "source_value": "Excessive shyness", "source_language": "en", "translation_value": "Utanga\u00e7l\u0131k", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0100962", "predicate_id": "rdfs:label", - "source_value": "Shyness", + "source_value": "Excessive shyness", "source_language": "en", "translation_value": "\u5bb3\u7f9e", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0100962", "predicate_id": "rdfs:label", - "source_value": "Shyness", + "source_value": "Excessive shyness", "source_language": "en", "translation_value": "\u306f\u305a\u304b\u3057\u304c\u308a", "translation_language": "ja", @@ -1251834,17 +1251834,17 @@ "translation_date": "2023-07-31", "translation_confidence": 1.0, "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0100962", "predicate_id": "rdfs:label", - "source_value": "Shyness", + "source_value": "Excessive shyness", "source_language": "en", "translation_value": "Timidez", "translation_language": "es", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0100963", @@ -1269247,7 +1269247,7 @@ { "subject_id": "HP:0410192", "predicate_id": "IAO:0000115", - "source_value": "An abnormality in uridine diphosphate glucose-4-epimerase level, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose.", + "source_value": "An abnormality in uridine diphosphate glucose-4-epimerase level, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose", "source_language": "en", "translation_value": "Abnormalita aktivity uridindifosf\u00e1tgluk\u00f3za-4-epimer\u00e1zy, enzymu katalyzuj\u00edc\u00ed reakci: UDP-gluk\u00f3za = UDP-galakt\u00f3za", "translation_language": "cs", @@ -1269256,7 +1269256,7 @@ { "subject_id": "HP:0410192", "predicate_id": "IAO:0000115", - "source_value": "An abnormality in uridine diphosphate glucose-4-epimerase level, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose.", + "source_value": "An abnormality in uridine diphosphate glucose-4-epimerase level, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose", "source_language": "en", "translation_value": "UDP-glukoz = UDP-galaktoz reaksiyonunu katalizleyen bir enzim olan \u00fcridin difosfat glukoz-4-epimeraz aktivitesinde bir anormallik", "translation_language": "tr", @@ -1269265,7 +1269265,7 @@ { "subject_id": "HP:0410192", "predicate_id": "rdfs:label", - "source_value": "Abnormal uridine diphosphate glucose-4-epimerase level", + "source_value": "obsolete Abnormal uridine diphosphate glucose-4-epimerase level", "source_language": "en", "translation_value": "Activit\u00e9 anormale de l'uridine diphosphate glucose-4-\u00e9pim\u00e9rase", "translation_language": "fr", @@ -1269275,7 +1269275,7 @@ { "subject_id": "HP:0410192", "predicate_id": "rdfs:label", - "source_value": "Abnormal uridine diphosphate glucose-4-epimerase level", + "source_value": "obsolete Abnormal uridine diphosphate glucose-4-epimerase level", "source_language": "en", "translation_value": "Abnorm\u00e1ln\u00ed aktivita uridin difosf\u00e1t gluk\u00f3za-4-epimer\u00e1zy", "translation_language": "cs", @@ -1269284,7 +1269284,7 @@ { "subject_id": "HP:0410192", "predicate_id": "rdfs:label", - "source_value": "Abnormal uridine diphosphate glucose-4-epimerase level", + "source_value": "obsolete Abnormal uridine diphosphate glucose-4-epimerase level", "source_language": "en", "translation_value": "Anormal \u00fcridin difosfat glukoz-4-epimeraz aktivitesi", "translation_language": "tr", @@ -1269293,29 +1269293,29 @@ { "subject_id": "HP:0410192", "predicate_id": "rdfs:label", - "source_value": "Abnormal uridine diphosphate glucose-4-epimerase level", + "source_value": "obsolete Abnormal uridine diphosphate glucose-4-epimerase level", "source_language": "en", "translation_value": "\u5c3f\u82f7\u4e8c\u78f7\u9178\u8461\u8404\u7cd64\u4f4d\u5f02\u6784\u9176\u5f02\u5e38", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0410192", "predicate_id": "rdfs:label", - "source_value": "Abnormal uridine diphosphate glucose-4-epimerase level", + "source_value": "obsolete Abnormal uridine diphosphate glucose-4-epimerase level", "source_language": "en", "translation_value": "\u30a6\u30ea\u30b8\u30f3\u4e8c\u30ea\u30f3\u9178\u30b0\u30eb\u30b3\u30fc\u30b9-4-\u30a8\u30d4\u30e1\u30e9\u30fc\u30bc\u5024\u306e\u7570\u5e38", "translation_language": "ja", "source_version": "http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl", "translation_date": "2023-07-31", "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0410192", "predicate_id": "rdfs:label", - "source_value": "Abnormal uridine diphosphate glucose-4-epimerase level", + "source_value": "obsolete Abnormal uridine diphosphate glucose-4-epimerase level", "source_language": "en", "translation_value": "Actividad anormal de uridina difosfato glucosa-4-epimerasa", "translation_language": "es", @@ -1269342,7 +1269342,7 @@ { "subject_id": "HP:0410193", "predicate_id": "rdfs:label", - "source_value": "Abnormal uridine diphosphate glucose-4-epimerase level in plasma", + "source_value": "Abnormal circulating UDP glucose-4-epimerase concentration", "source_language": "en", "translation_value": "Activit\u00e9 anormale de l'uridine diphosphate glucose-4-\u00e9pim\u00e9rase dans le plasma", "translation_language": "fr", @@ -1269352,7 +1269352,7 @@ { "subject_id": "HP:0410193", "predicate_id": "rdfs:label", - "source_value": "Abnormal uridine diphosphate glucose-4-epimerase level in plasma", + "source_value": "Abnormal circulating UDP glucose-4-epimerase concentration", "source_language": "en", "translation_value": "Abnorm\u00e1ln\u00ed aktivita uridin difosf\u00e1t gluk\u00f3za-4-epimer\u00e1zy v plazm\u011b", "translation_language": "cs", @@ -1269361,7 +1269361,7 @@ { "subject_id": "HP:0410193", "predicate_id": "rdfs:label", - "source_value": "Abnormal uridine diphosphate glucose-4-epimerase level in plasma", + "source_value": "Abnormal circulating UDP glucose-4-epimerase concentration", "source_language": "en", "translation_value": "Plazmada anormal \u00fcridin difosfat glukoz-4-epimeraz aktivitesi", "translation_language": "tr", @@ -1269370,29 +1269370,29 @@ { "subject_id": "HP:0410193", "predicate_id": "rdfs:label", - "source_value": "Abnormal uridine diphosphate glucose-4-epimerase level in plasma", + "source_value": "Abnormal circulating UDP glucose-4-epimerase concentration", "source_language": "en", "translation_value": "\u8840\u6d46\u5c3f\u82f7\u4e8c\u78f7\u9178\u8461\u8404\u7cd64\u4f4d\u5f02\u6784\u9176\u5f02\u5e38", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0410193", "predicate_id": "rdfs:label", - "source_value": "Abnormal uridine diphosphate glucose-4-epimerase level in plasma", + "source_value": "Abnormal circulating UDP glucose-4-epimerase concentration", "source_language": "en", "translation_value": "\u8840\u6f3f\u4e2d\u30a6\u30ea\u30b8\u30f3\u4e8c\u30ea\u30f3\u9178\u30b0\u30eb\u30b3\u30fc\u30b9-4-\u30a8\u30d4\u30e1\u30e9\u30fc\u30bc\u5024\u7570\u5e38", "translation_language": "ja", "source_version": "http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl", "translation_date": "2023-07-31", "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0410193", "predicate_id": "rdfs:label", - "source_value": "Abnormal uridine diphosphate glucose-4-epimerase level in plasma", + "source_value": "Abnormal circulating UDP glucose-4-epimerase concentration", "source_language": "en", "translation_value": "Actividad anormal de uridina difosfato glucosa-4-epimerasa en plasma", "translation_language": "es", @@ -1269419,7 +1269419,7 @@ { "subject_id": "HP:0410194", "predicate_id": "rdfs:label", - "source_value": "Increased uridine diphosphate glucose-4-epimerase level in plasma", + "source_value": "Increased circulating UDP glucose-4-epimerase concentration", "source_language": "en", "translation_value": "Augmentation de l'activit\u00e9 uridine diphosphate glucose-4-\u00e9pim\u00e9rase dans le plasma", "translation_language": "fr", @@ -1269429,7 +1269429,7 @@ { "subject_id": "HP:0410194", "predicate_id": "rdfs:label", - "source_value": "Increased uridine diphosphate glucose-4-epimerase level in plasma", + "source_value": "Increased circulating UDP glucose-4-epimerase concentration", "source_language": "en", "translation_value": "Zv\u00fd\u0161en\u00e1 aktivita uridindifosf\u00e1tgluk\u00f3za-4-epimer\u00e1zy v plazm\u011b", "translation_language": "cs", @@ -1269438,7 +1269438,7 @@ { "subject_id": "HP:0410194", "predicate_id": "rdfs:label", - "source_value": "Increased uridine diphosphate glucose-4-epimerase level in plasma", + "source_value": "Increased circulating UDP glucose-4-epimerase concentration", "source_language": "en", "translation_value": "Plazmada artm\u0131\u015f \u00fcridin difosfat glukoz-4-epimeraz aktivitesi", "translation_language": "tr", @@ -1269447,29 +1269447,29 @@ { "subject_id": "HP:0410194", "predicate_id": "rdfs:label", - "source_value": "Increased uridine diphosphate glucose-4-epimerase level in plasma", + "source_value": "Increased circulating UDP glucose-4-epimerase concentration", "source_language": "en", "translation_value": "\u8840\u6d46\u5c3f\u82f7\u4e8c\u78f7\u9178\u8461\u8404\u7cd64\u4f4d\u5f02\u6784\u9176\u5347\u9ad8", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0410194", "predicate_id": "rdfs:label", - "source_value": "Increased uridine diphosphate glucose-4-epimerase level in plasma", + "source_value": "Increased circulating UDP glucose-4-epimerase concentration", "source_language": "en", "translation_value": "\u8840\u6f3f\u4e2d\u30a6\u30ea\u30b8\u30f3\u4e8c\u30ea\u30f3\u9178\u30b0\u30eb\u30b3\u30fc\u30b9-4-\u30a8\u30d4\u30e1\u30e9\u30fc\u30bc\u5024\u306e\u4e0a\u6607", "translation_language": "ja", "source_version": "http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl", "translation_date": "2023-07-31", "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0410194", "predicate_id": "rdfs:label", - "source_value": "Increased uridine diphosphate glucose-4-epimerase level in plasma", + "source_value": "Increased circulating UDP glucose-4-epimerase concentration", "source_language": "en", "translation_value": "Aumento de la actividad uridina difosfato glucosa-4-epimerasa en plasma", "translation_language": "es", @@ -1269496,7 +1269496,7 @@ { "subject_id": "HP:0410195", "predicate_id": "rdfs:label", - "source_value": "Decreased uridine diphosphate glucose-4-epimerase level in plasma", + "source_value": "Decreased circulating UDP glucose-4-epimerase concentration", "source_language": "en", "translation_value": "Diminution de l'activit\u00e9 uridine diphosphate glucose-4-\u00e9pim\u00e9rase dans le plasma", "translation_language": "fr", @@ -1269506,7 +1269506,7 @@ { "subject_id": "HP:0410195", "predicate_id": "rdfs:label", - "source_value": "Decreased uridine diphosphate glucose-4-epimerase level in plasma", + "source_value": "Decreased circulating UDP glucose-4-epimerase concentration", "source_language": "en", "translation_value": "Sn\u00ed\u017een\u00e1 aktivita uridindifosf\u00e1tgluk\u00f3za-4-epimer\u00e1zy v plazm\u011b", "translation_language": "cs", @@ -1269515,7 +1269515,7 @@ { "subject_id": "HP:0410195", "predicate_id": "rdfs:label", - "source_value": "Decreased uridine diphosphate glucose-4-epimerase level in plasma", + "source_value": "Decreased circulating UDP glucose-4-epimerase concentration", "source_language": "en", "translation_value": "Plazmada azalm\u0131\u015f \u00fcridin difosfat glukoz-4-epimeraz aktivitesi", "translation_language": "tr", @@ -1269524,29 +1269524,29 @@ { "subject_id": "HP:0410195", "predicate_id": "rdfs:label", - "source_value": "Decreased uridine diphosphate glucose-4-epimerase level in plasma", + "source_value": "Decreased circulating UDP glucose-4-epimerase concentration", "source_language": "en", "translation_value": "\u8840\u6d46\u5c3f\u82f7\u4e8c\u78f7\u9178\u8461\u8404\u7cd64\u4f4d\u5f02\u6784\u9176\u964d\u4f4e", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0410195", "predicate_id": "rdfs:label", - "source_value": "Decreased uridine diphosphate glucose-4-epimerase level in plasma", + "source_value": "Decreased circulating UDP glucose-4-epimerase concentration", "source_language": "en", "translation_value": "\u8840\u6f3f\u4e2d\u30a6\u30ea\u30b8\u30f3\u4e8c\u30ea\u30f3\u9178\u30b0\u30eb\u30b3\u30fc\u30b9-4-\u30a8\u30d4\u30e1\u30e9\u30fc\u30bc\u5024\u306e\u4f4e\u4e0b", "translation_language": "ja", "source_version": "http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl", "translation_date": "2023-07-31", "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0410195", "predicate_id": "rdfs:label", - "source_value": "Decreased uridine diphosphate glucose-4-epimerase level in plasma", + "source_value": "Decreased circulating UDP glucose-4-epimerase concentration", "source_language": "en", "translation_value": "Disminuci\u00f3n de la actividad uridina difosfato glucosa-4-epimerasa en plasma", "translation_language": "es", @@ -1269573,7 +1269573,7 @@ { "subject_id": "HP:0410196", "predicate_id": "rdfs:label", - "source_value": "Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells", + "source_value": "Abnormal erythrocyte UDP glucose-4-epimerase concentration", "source_language": "en", "translation_value": "Activit\u00e9 anormale de l'uridine diphosphate glucose-4-\u00e9pim\u00e9rase dans les globules rouges.", "translation_language": "fr", @@ -1269583,7 +1269583,7 @@ { "subject_id": "HP:0410196", "predicate_id": "rdfs:label", - "source_value": "Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells", + "source_value": "Abnormal erythrocyte UDP glucose-4-epimerase concentration", "source_language": "en", "translation_value": "Abnorm\u00e1ln\u00ed aktivita uridin difosf\u00e1t gluk\u00f3za-4-epimer\u00e1zy v \u010derven\u00fdch krvink\u00e1ch", "translation_language": "cs", @@ -1269592,7 +1269592,7 @@ { "subject_id": "HP:0410196", "predicate_id": "rdfs:label", - "source_value": "Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells", + "source_value": "Abnormal erythrocyte UDP glucose-4-epimerase concentration", "source_language": "en", "translation_value": "K\u0131rm\u0131z\u0131 kan h\u00fccrelerinde anormal \u00fcridin difosfat glukoz-4-epimeraz aktivitesi", "translation_language": "tr", @@ -1269601,29 +1269601,29 @@ { "subject_id": "HP:0410196", "predicate_id": "rdfs:label", - "source_value": "Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells", + "source_value": "Abnormal erythrocyte UDP glucose-4-epimerase concentration", "source_language": "en", "translation_value": "\u7ea2\u7ec6\u80de\u5c3f\u82f7\u4e8c\u78f7\u9178\u8461\u8404\u7cd64\u4f4d\u5f02\u6784\u9176\u5f02\u5e38", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0410196", "predicate_id": "rdfs:label", - "source_value": "Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells", + "source_value": "Abnormal erythrocyte UDP glucose-4-epimerase concentration", "source_language": "en", "translation_value": "\u8d64\u8840\u7403\u4e2d\u306e\u30a6\u30ea\u30b8\u30f3\u4e8c\u30ea\u30f3\u9178\u30b0\u30eb\u30b3\u30fc\u30b9-4-\u30a8\u30d4\u30e1\u30e9\u30fc\u30bc\u5024\u306e\u7570\u5e38", "translation_language": "ja", "source_version": "http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl", "translation_date": "2023-07-31", "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0410196", "predicate_id": "rdfs:label", - "source_value": "Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells", + "source_value": "Abnormal erythrocyte UDP glucose-4-epimerase concentration", "source_language": "en", "translation_value": "Actividad anormal de uridina difosfato glucosa-4-epimerasa en gl\u00f3bulos rojos", "translation_language": "es", @@ -1269650,7 +1269650,7 @@ { "subject_id": "HP:0410197", "predicate_id": "rdfs:label", - "source_value": "Increased uridine diphosphate glucose-4-epimerase level in red blood cells", + "source_value": "Increased erythrocyte UDP glucose-4-epimerase concentration", "source_language": "en", "translation_value": "Augmentation de l'activit\u00e9 de l'uridine diphosphate glucose-4-\u00e9pim\u00e9rase dans les globules rouges.", "translation_language": "fr", @@ -1269660,7 +1269660,7 @@ { "subject_id": "HP:0410197", "predicate_id": "rdfs:label", - "source_value": "Increased uridine diphosphate glucose-4-epimerase level in red blood cells", + "source_value": "Increased erythrocyte UDP glucose-4-epimerase concentration", "source_language": "en", "translation_value": "Zv\u00fd\u0161en\u00e1 aktivita uridindifosf\u00e1tgluk\u00f3za-4-epimer\u00e1zy v \u010derven\u00fdch krvink\u00e1ch", "translation_language": "cs", @@ -1269669,7 +1269669,7 @@ { "subject_id": "HP:0410197", "predicate_id": "rdfs:label", - "source_value": "Increased uridine diphosphate glucose-4-epimerase level in red blood cells", + "source_value": "Increased erythrocyte UDP glucose-4-epimerase concentration", "source_language": "en", "translation_value": "K\u0131rm\u0131z\u0131 kan h\u00fccrelerinde artm\u0131\u015f \u00fcridin difosfat glukoz-4-epimeraz aktivitesi", "translation_language": "tr", @@ -1269678,29 +1269678,29 @@ { "subject_id": "HP:0410197", "predicate_id": "rdfs:label", - "source_value": "Increased uridine diphosphate glucose-4-epimerase level in red blood cells", + "source_value": "Increased erythrocyte UDP glucose-4-epimerase concentration", "source_language": "en", "translation_value": "\u7ea2\u7ec6\u80de\u5c3f\u82f7\u4e8c\u78f7\u9178\u8461\u8404\u7cd64\u4f4d\u5f02\u6784\u9176\u5347\u9ad8", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0410197", "predicate_id": "rdfs:label", - "source_value": "Increased uridine diphosphate glucose-4-epimerase level in red blood cells", + "source_value": "Increased erythrocyte UDP glucose-4-epimerase concentration", "source_language": "en", "translation_value": "\u8d64\u8840\u7403\u4e2d\u306e\u30a6\u30ea\u30b8\u30f3\u4e8c\u30ea\u30f3\u9178\u30b0\u30eb\u30b3\u30fc\u30b9-4-\u30a8\u30d4\u30e1\u30e9\u30fc\u30bc\u5024\u306e\u4e0a\u6607", "translation_language": "ja", "source_version": "http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl", "translation_date": "2023-07-31", "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0410197", "predicate_id": "rdfs:label", - "source_value": "Increased uridine diphosphate glucose-4-epimerase level in red blood cells", + "source_value": "Increased erythrocyte UDP glucose-4-epimerase concentration", "source_language": "en", "translation_value": "Aumento de la actividad uridina difosfato glucosa-4-epimerasa en los gl\u00f3bulos rojos", "translation_language": "es", @@ -1269727,7 +1269727,7 @@ { "subject_id": "HP:0410198", "predicate_id": "rdfs:label", - "source_value": "Decreased uridine diphosphate glucose-4-epimerase level in red blood cells", + "source_value": "Decreased erythrocyte UDP glucose-4-epimerase concentration", "source_language": "en", "translation_value": "Diminution de l'activit\u00e9 uridine diphosphate glucose-4-\u00e9pim\u00e9rase dans les globules rouges.", "translation_language": "fr", @@ -1269737,7 +1269737,7 @@ { "subject_id": "HP:0410198", "predicate_id": "rdfs:label", - "source_value": "Decreased uridine diphosphate glucose-4-epimerase level in red blood cells", + "source_value": "Decreased erythrocyte UDP glucose-4-epimerase concentration", "source_language": "en", "translation_value": "Sn\u00ed\u017een\u00e1 aktivita uridindifosf\u00e1tgluk\u00f3za-4-epimer\u00e1zy v \u010derven\u00fdch krvink\u00e1ch", "translation_language": "cs", @@ -1269746,7 +1269746,7 @@ { "subject_id": "HP:0410198", "predicate_id": "rdfs:label", - "source_value": "Decreased uridine diphosphate glucose-4-epimerase level in red blood cells", + "source_value": "Decreased erythrocyte UDP glucose-4-epimerase concentration", "source_language": "en", "translation_value": "K\u0131rm\u0131z\u0131 kan h\u00fccrelerinde azalm\u0131\u015f \u00fcridin difosfat glukoz-4-epimeraz aktivitesi", "translation_language": "tr", @@ -1269755,29 +1269755,29 @@ { "subject_id": "HP:0410198", "predicate_id": "rdfs:label", - "source_value": "Decreased uridine diphosphate glucose-4-epimerase level in red blood cells", + "source_value": "Decreased erythrocyte UDP glucose-4-epimerase concentration", "source_language": "en", "translation_value": "\u7ea2\u7ec6\u80de\u5c3f\u82f7\u4e8c\u78f7\u9178\u8461\u8404\u7cd64\u4f4d\u5f02\u6784\u9176\u964d\u4f4e", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0410198", "predicate_id": "rdfs:label", - "source_value": "Decreased uridine diphosphate glucose-4-epimerase level in red blood cells", + "source_value": "Decreased erythrocyte UDP glucose-4-epimerase concentration", "source_language": "en", "translation_value": "\u8d64\u8840\u7403\u4e2d\u306e\u30a6\u30ea\u30b8\u30f3\u4e8c\u30ea\u30f3\u9178\u30b0\u30eb\u30b3\u30fc\u30b9-4-\u30a8\u30d4\u30e1\u30e9\u30fc\u30bc\u5024\u306e\u6e1b\u5c11", "translation_language": "ja", "source_version": "http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl", "translation_date": "2023-07-31", "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:0410198", "predicate_id": "rdfs:label", - "source_value": "Decreased uridine diphosphate glucose-4-epimerase level in red blood cells", + "source_value": "Decreased erythrocyte UDP glucose-4-epimerase concentration", "source_language": "en", "translation_value": "Disminuci\u00f3n de la actividad de la uridina difosfato glucosa-4-epimerasa en los gl\u00f3bulos rojos", "translation_language": "es", @@ -1289668,20 +1289668,20 @@ { "subject_id": "HP:0500070", "predicate_id": "IAO:0000115", - "source_value": "A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus.", + "source_value": "A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimeters posterior to the limbus.", "source_language": "en", "translation_value": "L\u00e9ze konjunktivy tvo\u0159en\u00e1 tukovou tk\u00e1n\u00ed a hustou pojivovou tk\u00e1n\u00ed. Tento typ choristomu slo\u017een\u00e9ho z ko\u017en\u00edch element\u016f se norm\u00e1ln\u011b vyskytuje p\u0159i vn\u011bj\u0161\u00edm kantu a m\u00e1 gelatin\u00f3zn\u00ed vzhled. Klasicky m\u00edv\u00e1 nejasnou zadn\u00ed hranici (l\u00e9ze \u010dasto expanduje do orbity) a jasn\u011b ohrani\u010denou p\u0159edn\u00ed \u010d\u00e1st, n\u011bkolik milimetr\u016f za limbem.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0500070", "predicate_id": "IAO:0000115", - "source_value": "A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus.", + "source_value": "A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimeters posterior to the limbus.", "source_language": "en", "translation_value": "Ya\u011f dokusu ve yo\u011fun ba\u011f dokusundan olu\u015fan konjonktival bir lezyon. Dermal bile\u015fenlerin bu koristomalar\u0131 normal olarak d\u0131\u015f kantusta bulunur ve jelatinimsi bir g\u00f6r\u00fcn\u00fcme sahiptir. Klasik olarak belirsiz posterior s\u0131n\u0131r (s\u0131k\u00e7a g\u00f6z \u00e7ukuru i\u00e7ine uzanan lezyon ile) ve limbus posterioruna bir ka\u00e7 milimetre mesafede iyi s\u0131n\u0131rl\u0131 anterior s\u0131n\u0131r vard\u0131r", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0500070", @@ -1290438,20 +1290438,20 @@ { "subject_id": "HP:0500086", "predicate_id": "IAO:0000115", - "source_value": "Having a characteristic appearance of a slate gray area of pigmentation within the disc margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas.", + "source_value": "Having a characteristic appearance of a slate gray area of pigmentation within the disk margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas.", "source_language": "en", "translation_value": "Charakteristick\u00fd vzhled b\u0159idlicov\u011b \u0161ed\u00e9 oblasti pigmentace v r\u00e1mci okraj\u016f disku, kter\u00e1 se b\u011b\u017en\u011b objevuje pod\u00e9l inferotempor\u00e1ln\u00edho nebo tempor\u00e1ln\u00edho neuroretin\u00e1ln\u00edho okraje.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0500086", "predicate_id": "IAO:0000115", - "source_value": "Having a characteristic appearance of a slate gray area of pigmentation within the disc margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas.", + "source_value": "Having a characteristic appearance of a slate gray area of pigmentation within the disk margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas.", "source_language": "en", "translation_value": "Ortak olarak inferotemporal veya temporal n\u00f6roretinal s\u0131n\u0131r alanlar\u0131 boyunca g\u00f6z\u00fcken disk s\u0131n\u0131rlar\u0131 i\u00e7inde arduvaz grisi karakteristik bir pigmentasyon alan g\u00f6r\u00fcn\u00fcm\u00fcne sahip olan", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0500086", @@ -1290823,20 +1290823,20 @@ { "subject_id": "HP:0500091", "predicate_id": "IAO:0000115", - "source_value": "A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva manoeuvre. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to haemorrhage.", + "source_value": "A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva maneuver. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to hemorrhage.", "source_language": "en", "translation_value": "Hamartom lymfatick\u00fdch cest obvykle se vyskytuj\u00edc\u00ed v d\u011btstv\u00ed. M\u00edv\u00e1 tendenci zv\u011b\u0161it se p\u0159i poloze s hlavou dol\u016f a s Valsalvov\u00fdm man\u00e9vrem. Povrchov\u00e9 l\u00e9ze vypadaj\u00ed jako prosv\u00edtiteln\u00e9 cystick\u00e9 prostory v\u00ed\u010dka nebo spojivky a m\u016f\u017eou obsahovat krev. Hlubok\u00e9 l\u00e9ze m\u016f\u017eou zp\u016fsobovat gradu\u00e1ln\u00ed propt\u00f3zu \u010di prezentovat se jako akutn\u00ed orbit\u00e1ln\u00ed bolest a omezen\u00ed vid\u011bn\u00ed z d\u016fvodu krv\u00e1cen\u00ed.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0500091", "predicate_id": "IAO:0000115", - "source_value": "A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva manoeuvre. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to haemorrhage.", + "source_value": "A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva maneuver. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to hemorrhage.", "source_language": "en", "translation_value": "Genellikle \u00e7ocuklukta kendini g\u00f6steren lenf damarlar\u0131n\u0131n bir hamartomu. Ba\u015f a\u015fa\u011f\u0131 duru\u015f ve Valsalva manevras\u0131 ile boyutta art\u0131\u015f g\u00f6sterme e\u011filimindedir. Y\u00fczeysel lezyonlar g\u00f6z kapa\u011f\u0131n\u0131n veya konjunktivan\u0131n arkadan \u0131\u015f\u0131k ile ayd\u0131nlanabilecek, kan da i\u00e7erebilen kistik bo\u015fluklar olarak g\u00f6r\u00fcn\u00fcr. Derin lezyonlar kademeli propitozise neden olabilir veya akut olarak orbital a\u011fr\u0131 ve hemorajiye ba\u011fl\u0131 olarak azalm\u0131\u015f g\u00f6r\u00fc\u015f ile kendini g\u00f6sterir", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:0500091", @@ -1300525,25 +1300525,25 @@ { "subject_id": "HP:3000004", "predicate_id": "IAO:0000115", - "source_value": "An abnormality of a frontalis muscle belly.", + "source_value": "Abnormal function of the frontalis muscle, which covers parts of the forehead and is responsible for raising the eyebrows.", "source_language": "en", "translation_value": "Abnormalita p\u0159edn\u00edho b\u0159\u00ed\u0161ka musculus occipitofrontalis zvan\u00e9ho musculus frontalis.", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:3000004", "predicate_id": "IAO:0000115", - "source_value": "An abnormality of a frontalis muscle belly.", + "source_value": "Abnormal function of the frontalis muscle, which covers parts of the forehead and is responsible for raising the eyebrows.", "source_language": "en", "translation_value": "Frontalis kas karn\u0131n\u0131n bir anormalli\u011fi", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:3000004", "predicate_id": "rdfs:label", - "source_value": "Abnormality of frontalis muscle belly", + "source_value": "Abnormal frontalis muscle physiology", "source_language": "en", "translation_value": "Afwijking van musculus frontalis", "translation_language": "nl", @@ -1300552,48 +1300552,48 @@ { "subject_id": "HP:3000004", "predicate_id": "rdfs:label", - "source_value": "Abnormality of frontalis muscle belly", + "source_value": "Abnormal frontalis muscle physiology", "source_language": "en", "translation_value": "Anomalie du corps du muscle frontal", "translation_language": "fr", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "comment": "label of HP:3000004 (Abnormality of frontalis muscle belly) ; abnormality of the musculature ; abnormality of head or neck" }, { "subject_id": "HP:3000004", "predicate_id": "rdfs:label", - "source_value": "Abnormality of frontalis muscle belly", + "source_value": "Abnormal frontalis muscle physiology", "source_language": "en", "translation_value": "Abnormalita musculus frontalis", "translation_language": "cs", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:3000004", "predicate_id": "rdfs:label", - "source_value": "Abnormality of frontalis muscle belly", + "source_value": "Abnormal frontalis muscle physiology", "source_language": "en", "translation_value": "Frontalis kas karn\u0131n\u0131n anormalli\u011fi", "translation_language": "tr", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:3000004", "predicate_id": "rdfs:label", - "source_value": "Abnormality of frontalis muscle belly", + "source_value": "Abnormal frontalis muscle physiology", "source_language": "en", "translation_value": "\u989d\u808c\u808c\u8179\u5f02\u5e38", "translation_language": "zh", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:3000004", "predicate_id": "rdfs:label", - "source_value": "Abnormality of frontalis muscle belly", + "source_value": "Abnormal frontalis muscle physiology", "source_language": "en", "translation_value": "Anomal\u00eda del m\u00fasculo frontal", "translation_language": "es", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:3000005", @@ -1306294,7 +1306294,7 @@ { "subject_id": "HP:4000008", "predicate_id": "IAO:0000115", - "source_value": "Pronuclei formation is a critical process during fertilisation. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilisation. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilisation with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI.", + "source_value": "Pronuclei formation is a critical process during fertilization. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilization. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilization with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI.", "source_language": "en", "translation_value": "Tvorba prvojader je kritick\u00fdm procesem b\u011bhem oplodn\u011bn\u00ed. Norm\u00e1ln\u011b jsou v zygot\u011b po oplodn\u011bn\u00ed dv\u011b prvoj\u00e1dra (2PN), tedy otcovsk\u00e9 a mate\u0159sk\u00e9. Obecn\u011b se uzn\u00e1v\u00e1, \u017ee tvorba mnoho\u010detn\u00fdch prvojader (MPN) je zp\u016fsobena abnorm\u00e1ln\u00ed extruz\u00ed druh\u00e9ho pol\u00e1rn\u00edho t\u011bl\u00edska nebo abnorm\u00e1ln\u00edm oplodn\u011bn\u00edm v\u00edce spermiemi. MPN proto m\u016f\u017ee zp\u016fsobit neplodnost a opakovan\u00e9 selh\u00e1n\u00ed IVF/ICSI", "translation_language": "cs", @@ -1307225,7 +1307225,7 @@ { "subject_id": "HP:4000027", "predicate_id": "rdfs:label", - "source_value": "anti-LAD-1 antibody positivity", + "source_value": "Anti-LAD-1 antibody positivity", "source_language": "en", "translation_value": "Pozitivita anti-LAD-1 protil\u00e1tek", "translation_language": "cs", @@ -1307234,7 +1307234,7 @@ { "subject_id": "HP:4000027", "predicate_id": "rdfs:label", - "source_value": "anti-LAD-1 antibody positivity", + "source_value": "Anti-LAD-1 antibody positivity", "source_language": "en", "translation_value": "\u6297LAD-1\u6297\u4f53\u9633\u6027", "translation_language": "zh", @@ -1307243,7 +1307243,7 @@ { "subject_id": "HP:4000027", "predicate_id": "rdfs:label", - "source_value": "anti-LAD-1 antibody positivity", + "source_value": "Anti-LAD-1 antibody positivity", "source_language": "en", "translation_value": "\u6297LAD-1\u6297\u4f53\u967d\u6027", "translation_language": "ja", @@ -1307256,7 +1307256,7 @@ { "subject_id": "HP:4000027", "predicate_id": "rdfs:label", - "source_value": "anti-LAD-1 antibody positivity", + "source_value": "Anti-LAD-1 antibody positivity", "source_language": "en", "translation_value": "positividad del anticuerpo anti-LAD-1", "translation_language": "es", @@ -1308637,7 +1308637,7 @@ { "subject_id": "HP:4000056", "predicate_id": "IAO:0000115", - "source_value": "Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterised by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighbouring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response.", + "source_value": "Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterized by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighboring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response.", "source_language": "en", "translation_value": "Jak\u00e1koli abnormalita programovan\u00e9 bun\u011b\u010dn\u00e9 smrti (apopt\u00f3zy), kter\u00e1 je definov\u00e1na jako organizovan\u00fd z\u00e1nik bu\u0148ky charakterizovan\u00fd blebbingem membr\u00e1ny (vznikem nepravideln\u00fdch z\u00e1hyb\u016f), smr\u0161\u0165ov\u00e1n\u00edm bu\u0148ky, kondenzac\u00ed chromatinu a fragmentac\u00ed DNA, po n\u00ed\u017e n\u00e1sleduje rychl\u00e9 pohlcen\u00ed zbyl\u00e9ho materi\u00e1lu sousedn\u00edmi bu\u0148kami. Apopt\u00f3za se od smrti nekr\u00f3zou li\u0161\u00ed absenc\u00ed souvisej\u00edc\u00ed z\u00e1n\u011btliv\u00e9 reakce.", "translation_language": "cs", @@ -1309814,7 +1309814,7 @@ { "subject_id": "HP:4000085", "predicate_id": "IAO:0000115", - "source_value": "An absence or reduction in object sharing. Object sharing is an early emerging social skill in which a child will share objects such as toys, balls, or books with parents or peers during object play. Object sharing typically develops within the first two years of life.", + "source_value": "An absence or reduction in object sharing. Object sharing is an early emerging social skill in which a child will share objects such as toys, balls, or books with parents or peers during object play.", "source_language": "en", "translation_value": "Absence nebo omezen\u00ed sd\u00edlen\u00ed objekt\u016f. Sd\u00edlen\u00ed objekt\u016f je ran\u011b se objevuj\u00edc\u00ed soci\u00e1ln\u00ed dovednost, ve kter\u00e9 chce d\u00edt\u011b sd\u00edlet p\u0159edm\u011bty s rodi\u010di nebo vrstevn\u00edky b\u011bhem hry s p\u0159edm\u011bty. Sd\u00edlen\u00ed objekt\u016f se obvykle rozv\u00edj\u00ed b\u011bhem prvn\u00edch dvou let \u017eivota.", "translation_language": "cs", @@ -1310059,7 +1310059,7 @@ { "subject_id": "HP:4000092", "predicate_id": "IAO:0000115", - "source_value": "Reduced ability to conduct a reciprocal (back and forth) conversation, as expected for language level.", + "source_value": "Reduced use of reciprocal (back and forth) conversation, as compared to what would be expected for language level.", "source_language": "en", "translation_value": "Sn\u00ed\u017een\u00e1 schopnost v\u00e9st vz\u00e1jemnou konverzaci (tam a zp\u011bt) charakterizovan\u00e1 nedostatky ve schopnosti komentovat t\u00e9mata diskuse ostatn\u00edch, neum\u011bt kl\u00e1st ot\u00e1zky a nestav\u011bt konverzaci na koment\u00e1\u0159\u00edch ostatn\u00edch. Posti\u017een\u00e9 osoby nemus\u00ed v\u011bd\u011bt, co maj\u00ed v rozhovoru \u0159\u00edct d\u00e1l, nemus\u00ed si v\u0161imnout, zda se ostatn\u00ed dan\u00fdm t\u00e9matem nud\u00ed, mohou v\u00e9st jednostrannou konverzaci (mluvit, ale neposlouchat) nebo mohou odb\u00edhat od t\u00e9matu v\u00edce, ne\u017e je spole\u010densky p\u0159ijateln\u00e9.", "translation_language": "cs", @@ -1315951,68 +1315951,68 @@ { "subject_id": "HP:5200017", "predicate_id": "rdfs:label", - "source_value": "Abnormal movements of face and head", + "source_value": "Steroetypic movements of face and head", "source_language": "en", "translation_value": "\u9854\u3084\u982d\u306e\u7570\u5e38\u306a\u52d5\u304d", "translation_language": "ja", "source_version": "http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl", "translation_date": "2023-07-31", "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:5200017", "predicate_id": "rdfs:label", - "source_value": "Abnormal movements of face and head", + "source_value": "Steroetypic movements of face and head", "source_language": "en", "translation_value": "Movimientos anormales de la cara y la cabeza.", "translation_language": "es", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:5200018", "predicate_id": "rdfs:label", - "source_value": "Abnormal movements of the upper extremities", + "source_value": "Steroetypic upper-extremity movements", "source_language": "en", "translation_value": "\u4e0a\u80a2\u306e\u7570\u5e38\u306a\u52d5\u304d", "translation_language": "ja", "source_version": "http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl", "translation_date": "2023-07-31", "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:5200018", "predicate_id": "rdfs:label", - "source_value": "Abnormal movements of the upper extremities", + "source_value": "Steroetypic upper-extremity movements", "source_language": "en", "translation_value": "Movimientos anormales de las extremidades superiores", "translation_language": "es", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:5200019", "predicate_id": "rdfs:label", - "source_value": "Abnormal movements of the whole body", + "source_value": "Stereotypic whole-body movements", "source_language": "en", "translation_value": "\u5168\u8eab\u306e\u7570\u5e38\u306a\u52d5\u304d", "translation_language": "ja", "source_version": "http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl", "translation_date": "2023-07-31", "translation_precision": "EXACT", - "translation_status": "OFFICIAL", + "translation_status": "CANDIDATE", "source": "http://purl.obolibrary.org/obo/hp.owl" }, { "subject_id": "HP:5200019", "predicate_id": "rdfs:label", - "source_value": "Abnormal movements of the whole body", + "source_value": "Stereotypic whole-body movements", "source_language": "en", "translation_value": "Movimientos anormales de todo el cuerpo", "translation_language": "es", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:5200020", @@ -1316325,7 +1316325,7 @@ { "subject_id": "HP:5200037", "predicate_id": "rdfs:label", - "source_value": "Lack of expressed empath", + "source_value": "Lack of expressed empathy", "source_language": "en", "translation_value": "\u4ea4\u611f\u795e\u7d4c\u8868\u73fe\u306e\u6e1b\u5c11", "translation_language": "ja", @@ -1316338,7 +1316338,7 @@ { "subject_id": "HP:5200037", "predicate_id": "rdfs:label", - "source_value": "Lack of expressed empath", + "source_value": "Lack of expressed empathy", "source_language": "en", "translation_value": "Expresi\u00f3n simp\u00e1tica reducida.", "translation_language": "es", @@ -1317989,11 +1317989,11 @@ { "subject_id": "HP:5200235", "predicate_id": "rdfs:label", - "source_value": "Thought disorder", + "source_value": "Disorganized speech or communication", "source_language": "en", "translation_value": "Trastorno del pensamiento", "translation_language": "es", - "translation_status": "OFFICIAL" + "translation_status": "CANDIDATE" }, { "subject_id": "HP:5200237", diff --git a/src/translations/hp-all.babelon.tsv b/src/translations/hp-all.babelon.tsv index ff5889d46..03e50dcf7 100644 --- a/src/translations/hp-all.babelon.tsv +++ b/src/translations/hp-all.babelon.tsv @@ -3260,13 +3260,13 @@ en es HP:0000414 rdfs:label Bulbous nose Nariz bulbosa OFFICIAL en fr HP:0000415 IAO:0000115 Abnormality of the choanae (the posterior nasal apertures). Anomalie des choanes (les ouvertures nasales postérieures) OFFICIAL definition of HP:0000415 (Abnormality of the choanae) ; abnormality of head or neck en cs HP:0000415 IAO:0000115 Abnormality of the choanae (the posterior nasal apertures). Abnormalita choan OFFICIAL en tr HP:0000415 IAO:0000115 Abnormality of the choanae (the posterior nasal apertures). Koana (posterior burun açıklığı) anormalliği OFFICIAL -en nl HP:0000415 rdfs:label Abnormality of the choanae Afwijking van de choanae CANDIDATE -en fr HP:0000415 rdfs:label Abnormality of the choanae Anomalie des choanes OFFICIAL label of HP:0000415 (Abnormality of the choanae) ; abnormality of head or neck -en cs HP:0000415 rdfs:label Abnormality of the choanae Abnormalita choan OFFICIAL -en tr HP:0000415 rdfs:label Abnormality of the choanae Koana anormalliği OFFICIAL -en zh HP:0000415 rdfs:label Abnormality of the choanae 鼻后孔的异常 OFFICIAL -en ja HP:0000415 rdfs:label Abnormality of the choanae 後鼻孔の異常 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT -en es HP:0000415 rdfs:label Abnormality of the choanae Anomalía de las coanas OFFICIAL +en nl HP:0000415 rdfs:label Abnormal choanae morphology Afwijking van de choanae CANDIDATE +en fr HP:0000415 rdfs:label Abnormal choanae morphology Anomalie des choanes CANDIDATE label of HP:0000415 (Abnormality of the choanae) ; abnormality of head or neck +en cs HP:0000415 rdfs:label Abnormal choanae morphology Abnormalita choan CANDIDATE +en tr HP:0000415 rdfs:label Abnormal choanae morphology Koana anormalliği CANDIDATE +en zh HP:0000415 rdfs:label Abnormal choanae morphology 鼻后孔的异常 CANDIDATE +en ja HP:0000415 rdfs:label Abnormal choanae morphology 後鼻孔の異常 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT +en es HP:0000415 rdfs:label Abnormal choanae morphology Anomalía de las coanas CANDIDATE en nl HP:0000417 rdfs:label Slender nose Slanke neus CANDIDATE en fr HP:0000417 rdfs:label Slender nose Nez mince OFFICIAL label of HP:0000417 (Slender nose) ; abnormality of head or neck en cs HP:0000417 rdfs:label Slender nose Štíhlý nos OFFICIAL @@ -4253,9 +4253,9 @@ en tr HP:0000542 rdfs:label Impaired ocular adduction Bozulmuş oküler adduksiy en zh HP:0000542 rdfs:label Impaired ocular adduction 眼内收障碍 OFFICIAL en ja HP:0000542 rdfs:label Impaired ocular adduction 眼球内転障害 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0000542 rdfs:label Impaired ocular adduction Aducción ocular alterada OFFICIAL -en fr HP:0000543 IAO:0000115 A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. Une coloration jaune pâle du disque optique (zone de la tête du nerf optique dans la rétine). Le disque optique a normalement une teinte rosée avec une dépression centrale jaunâtre. OFFICIAL definition of HP:0000543 (Optic disc pallor) ; abnormality of the eye -en cs HP:0000543 IAO:0000115 A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. Bledě žludá diskolorace optického disku (místo, kde nervus opticus vstupuje do retiny). Standartní je růžovkasté zbarvení s cetrální žlutkastou depresí OFFICIAL -en tr HP:0000543 IAO:0000115 A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. Optik diskin (retinadaki optik sinir başı alanı) soluk sarı bir renk alması. Optik disk normalde ortasında sarımsı basıklık olan pembemsi bir tona sahiptir OFFICIAL +en fr HP:0000543 IAO:0000115 A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. Une coloration jaune pâle du disque optique (zone de la tête du nerf optique dans la rétine). Le disque optique a normalement une teinte rosée avec une dépression centrale jaunâtre. CANDIDATE definition of HP:0000543 (Optic disc pallor) ; abnormality of the eye +en cs HP:0000543 IAO:0000115 A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. Bledě žludá diskolorace optického disku (místo, kde nervus opticus vstupuje do retiny). Standartní je růžovkasté zbarvení s cetrální žlutkastou depresí CANDIDATE +en tr HP:0000543 IAO:0000115 A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. Optik diskin (retinadaki optik sinir başı alanı) soluk sarı bir renk alması. Optik disk normalde ortasında sarımsı basıklık olan pembemsi bir tona sahiptir CANDIDATE en nl HP:0000543 rdfs:label Optic disc pallor Bleekheid optische schijf CANDIDATE en fr HP:0000543 rdfs:label Optic disc pallor Disques optiques pâles OFFICIAL label of HP:0000543 (Optic disc pallor) ; abnormality of the eye en cs HP:0000543 rdfs:label Optic disc pallor Bledost optického disku OFFICIAL @@ -5188,8 +5188,8 @@ en zh HP:0000656 rdfs:label Ectropion 睑外翻 OFFICIAL en nna HP:0000656 rdfs:label Ectropion Pani karnu kurtan-kurtan OFFICIAL en ja HP:0000656 rdfs:label Ectropion 外反(眼瞼) OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0000656 rdfs:label Ectropion Ectropion o eversión del párpado OFFICIAL -en cs HP:0000657 IAO:0000115 Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex. Okulomotorická apraxie je porucha dobrovolných a cílených pohybů očí v horizontální rovině a porucha vůlí iniciovaných sakád. Zachované jsou hladké sledovací pohyby očí. Neschopnost pohybu okem se kompenzuje pohybem hlavy. Porušeny ale můžou být i hladké sledovací pohyby a vestibulo-okulární reflex OFFICIAL -en tr HP:0000657 IAO:0000115 Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex. Oküler motor apraksi istemli, yatay, yan, yavaş takip hareketlerinin korunduğu hızlı göz hareketlerindeki (salınımlar) eksikliklerdir. Görsel olarak nesneleri takip etmedeki yetenek sıklıkla kafa hareketleri ile telafi edilmektedir. Düz takipte azalma ve vestibülo-oküler refleksin ortadan kalkması olabilir OFFICIAL +en cs HP:0000657 IAO:0000115 Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex. Okulomotorická apraxie je porucha dobrovolných a cílených pohybů očí v horizontální rovině a porucha vůlí iniciovaných sakád. Zachované jsou hladké sledovací pohyby očí. Neschopnost pohybu okem se kompenzuje pohybem hlavy. Porušeny ale můžou být i hladké sledovací pohyby a vestibulo-okulární reflex CANDIDATE +en tr HP:0000657 IAO:0000115 Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex. Oküler motor apraksi istemli, yatay, yan, yavaş takip hareketlerinin korunduğu hızlı göz hareketlerindeki (salınımlar) eksikliklerdir. Görsel olarak nesneleri takip etmedeki yetenek sıklıkla kafa hareketleri ile telafi edilmektedir. Düz takipte azalma ve vestibülo-oküler refleksin ortadan kalkması olabilir CANDIDATE en nl HP:0000657 rdfs:label Oculomotor apraxia Oculomotorische apraxie CANDIDATE en fr HP:0000657 rdfs:label Oculomotor apraxia Apraxie oculomotrice OFFICIAL label of HP:0000657 (Oculomotor apraxia) ; abnormality of the nervous system ; abnormality of the eye en fr HP:0000657 rdfs:label Oculomotor apraxia Apraxie oculomotrice OFFICIAL label of HP:0000657 (Oculomotor apraxia) ; abnormality of the nervous system ; abnormality of the eye @@ -5362,8 +5362,8 @@ en tr HP:0000682 rdfs:label Abnormal dental enamel morphology Diş minesi anorma en zh HP:0000682 rdfs:label Abnormal dental enamel morphology 牙釉质形态异常 OFFICIAL en ja HP:0000682 rdfs:label Abnormal dental enamel morphology 歯エナメル質異常 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0000682 rdfs:label Abnormal dental enamel morphology Anomalía del esmalte dental CANDIDATE -en cs HP:0000683 IAO:0000115 A grey discoloration of the dental enamel. Šedá diskolorace zubní skloviny OFFICIAL -en tr HP:0000683 IAO:0000115 A grey discoloration of the dental enamel. Diş minesinin grimsi renk değişikliği OFFICIAL +en cs HP:0000683 IAO:0000115 A gray discoloration of the dental enamel. Šedá diskolorace zubní skloviny CANDIDATE +en tr HP:0000683 IAO:0000115 A gray discoloration of the dental enamel. Diş minesinin grimsi renk değişikliği CANDIDATE en nl HP:0000683 rdfs:label Grayish enamel Grijsachtig glazuur CANDIDATE en fr HP:0000683 rdfs:label Grayish enamel Email dentaire grisâtre OFFICIAL label of HP:0000683 (Grayish enamel) ; abnormality of head or neck ; abnormality of the skeletal system ; abnormality of connective tissue en cs HP:0000683 rdfs:label Grayish enamel Šedá sklovina OFFICIAL @@ -5708,14 +5708,14 @@ en ja HP:0000732 rdfs:label Inflexible adherence to routines ルーチンまた en es HP:0000732 rdfs:label Inflexible adherence to routines Inflexibilidad para adherirse a rutinas o rituales CANDIDATE en cs HP:0000733 IAO:0000115 Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose. Stereotypie jsou repetitivní, jednoduché pohyby, které jsou potlačitelné vůlí. Obvykle jsou jednoduchého charakteru, například mávání rukami, a nezahrnují komplexní sekvence či frakce pohybů. Pohyby jsou často, ale ne vždy rytmické, a můžou zahrnovat prsty, zápěstí, či více proximální části horní končetiny. Použití dolních končetin není typické. Častější jsou stereotypie bilaterální než unilaterální CANDIDATE en tr HP:0000733 IAO:0000115 Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose. Stereotipi istemli olarak baskılanabilen tekrarlayan, basit harekettir. Stereotipiler sallanma, el veya kolları çırpma gibi tipik olarak basit ileri ve geri hareketlerdir ve karmaşık diziler veya hareket bölümlerini içermez. Hareket sıklıkla ama her zaman olmayan şekilde ritmiktir ve parmakları, el bileklerini veya üst ekstremitenin daha proksimal kısımlarını içerebilir. Alt ekstremite tipik olarak dahil olmaz. Stereotipiler tek taraflı olmaktan ziyade çoğunlukla iki taraflıdır CANDIDATE -en nl HP:0000733 rdfs:label Abnormal repetitive mannerisms Stereotypie CANDIDATE -en fr HP:0000733 rdfs:label Abnormal repetitive mannerisms Stéréotypie CANDIDATE label of HP:0000733 (Stereotypy) ; abnormality of the nervous system -en fr HP:0000733 rdfs:label Abnormal repetitive mannerisms Stéréotypie CANDIDATE label of HP:0000733 (Stereotypy) ; abnormality of the nervous system -en cs HP:0000733 rdfs:label Abnormal repetitive mannerisms Motorická stereotypie CANDIDATE -en tr HP:0000733 rdfs:label Abnormal repetitive mannerisms Stereotipi CANDIDATE -en zh HP:0000733 rdfs:label Abnormal repetitive mannerisms 运动刻板 CANDIDATE -en ja HP:0000733 rdfs:label Abnormal repetitive mannerisms 常同行動 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT -en es HP:0000733 rdfs:label Abnormal repetitive mannerisms Comportamiento estereottipado CANDIDATE +en nl HP:0000733 rdfs:label Motor stereotypy Stereotypie CANDIDATE +en fr HP:0000733 rdfs:label Motor stereotypy Stéréotypie CANDIDATE label of HP:0000733 (Stereotypy) ; abnormality of the nervous system +en fr HP:0000733 rdfs:label Motor stereotypy Stéréotypie CANDIDATE label of HP:0000733 (Stereotypy) ; abnormality of the nervous system +en cs HP:0000733 rdfs:label Motor stereotypy Motorická stereotypie OFFICIAL +en tr HP:0000733 rdfs:label Motor stereotypy Stereotipi CANDIDATE +en zh HP:0000733 rdfs:label Motor stereotypy 运动刻板 OFFICIAL +en ja HP:0000733 rdfs:label Motor stereotypy 常同行動 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT +en es HP:0000733 rdfs:label Motor stereotypy Comportamiento estereottipado CANDIDATE en cs HP:0000734 IAO:0000115 Reduced ability to control, or a failure to resist a temptation, urge, or impulse. Examples include disregard for social conventions, general impulsivity, and poor risk assessment. Nedostatečná zdrženlivost, projevuje se několika způsoby, včetně ignorování sociálních konvencí, impulzivity a špatného hodnocení rizik CANDIDATE en tr HP:0000734 IAO:0000115 Reduced ability to control, or a failure to resist a temptation, urge, or impulse. Examples include disregard for social conventions, general impulsivity, and poor risk assessment. Sosyal adetlere aldırmama, dürtüsellik ve zayıf risk değerlendirmesi gibi çeşitli yollarla belirti veren bir kısıtlama eksikliği CANDIDATE en nl HP:0000734 rdfs:label Disinhibition Disinhibitie CANDIDATE @@ -9122,8 +9122,8 @@ en tr HP:0001249 rdfs:label Intellectual disability Entellektüel yetersizlik OF en zh HP:0001249 rdfs:label Intellectual disability 智力障碍 OFFICIAL en ja HP:0001249 rdfs:label Intellectual disability 知的障害 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0001249 rdfs:label Intellectual disability Discapacidad intelectual OFFICIAL -en cs HP:0001250 IAO:0000115 A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Křeče (epileptické křeče, epileptický záchvat) jsou přechodnou abnormalitou centrální nervové soustavy způsobenou anormálními výboji mozkových neuronů klinicky charakterizovanou kombinacemi poruch čití, ztráty vědomí, postižení psychických funkcí či křečovitých pohybů. Termín epilepsie se používá k popisu chronických, rekurentních záchvatů CANDIDATE -en tr HP:0001250 IAO:0000115 A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Nöbetler ani, aşırı, hastalık düzeyindeki serebral nöronların boşalımı nedeniyle oluşan klinik olarak his bozukluğu, bilinç kaybı, fiziksel fonksiyon bozukluğu veya konvulzif hareketler kombinasyonu ile karakterize merkezi sinir sisteminin aralar ile gerçekleşen anormalliğidir. Epilepsi terimi kronik, tekrar eden nöbetleri tanımlamak için kullanılmaktadır CANDIDATE +en cs HP:0001250 IAO:0000115 A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Křeče (epileptické křeče, epileptický záchvat) jsou přechodnou abnormalitou centrální nervové soustavy způsobenou anormálními výboji mozkových neuronů klinicky charakterizovanou kombinacemi poruch čití, ztráty vědomí, postižení psychických funkcí či křečovitých pohybů. Termín epilepsie se používá k popisu chronických, rekurentních záchvatů CANDIDATE +en tr HP:0001250 IAO:0000115 A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Nöbetler ani, aşırı, hastalık düzeyindeki serebral nöronların boşalımı nedeniyle oluşan klinik olarak his bozukluğu, bilinç kaybı, fiziksel fonksiyon bozukluğu veya konvulzif hareketler kombinasyonu ile karakterize merkezi sinir sisteminin aralar ile gerçekleşen anormalliğidir. Epilepsi terimi kronik, tekrar eden nöbetleri tanımlamak için kullanılmaktadır CANDIDATE en nl HP:0001250 rdfs:label Seizure Plotselinge aanvallen CANDIDATE en fr HP:0001250 rdfs:label Seizure Epilépsie CANDIDATE label of HP:0001250 (Seizures) ; abnormality of the nervous system en fr HP:0001250 rdfs:label Seizure Epilépsie CANDIDATE label of HP:0001250 (Seizures) ; abnormality of the nervous system @@ -13020,13 +13020,13 @@ en tr HP:0001899 rdfs:label Increased hematocrit Artmış hematokrit OFFICIAL en zh HP:0001899 rdfs:label Increased hematocrit 红细胞压积增高 OFFICIAL en ja HP:0001899 rdfs:label Increased hematocrit ヘマトクリット増加 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0001899 rdfs:label Increased hematocrit Aumento de hematocrito OFFICIAL -en nl HP:0001900 rdfs:label Increased hemoglobin Verhoogd hemoglobine CANDIDATE -en fr HP:0001900 rdfs:label Increased hemoglobin Hémoglobine augmentée OFFICIAL label of HP:0001900 (Increased hemoglobin) ; abnormality of blood and blood-forming tissues -en cs HP:0001900 rdfs:label Increased hemoglobin Zvýšený hemoglobín OFFICIAL -en tr HP:0001900 rdfs:label Increased hemoglobin Artmış hemoglobin OFFICIAL -en zh HP:0001900 rdfs:label Increased hemoglobin 血红蛋白增多 OFFICIAL -en ja HP:0001900 rdfs:label Increased hemoglobin ヘモグロビン増加 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT -en es HP:0001900 rdfs:label Increased hemoglobin Aumento de la hemoglobina OFFICIAL +en nl HP:0001900 rdfs:label Increased circulating hemoglobin concentration Verhoogd hemoglobine CANDIDATE +en fr HP:0001900 rdfs:label Increased circulating hemoglobin concentration Hémoglobine augmentée CANDIDATE label of HP:0001900 (Increased hemoglobin) ; abnormality of blood and blood-forming tissues +en cs HP:0001900 rdfs:label Increased circulating hemoglobin concentration Zvýšený hemoglobín CANDIDATE +en tr HP:0001900 rdfs:label Increased circulating hemoglobin concentration Artmış hemoglobin CANDIDATE +en zh HP:0001900 rdfs:label Increased circulating hemoglobin concentration 血红蛋白增多 CANDIDATE +en ja HP:0001900 rdfs:label Increased circulating hemoglobin concentration ヘモグロビン増加 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT +en es HP:0001900 rdfs:label Increased circulating hemoglobin concentration Aumento de la hemoglobina CANDIDATE en cs HP:0001901 IAO:0000115 Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal. Polycytemie je diagnostikována, pokud počet červených krvinek, hladina hemoglobinu a objem červených krvinek překračují horní hranici normy OFFICIAL en tr HP:0001901 IAO:0000115 Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal. Eğer kırmızı kan sayımı, hemoglobin seviyesi ve kırmızı kan hücresi hacminin hepsi normal aralığın üst limitini aşarsa polisitemi tanısı koyulur OFFICIAL en nl HP:0001901 rdfs:label Polycythemia Polycythemie CANDIDATE @@ -14585,8 +14585,8 @@ en tr HP:0002120 rdfs:label Cerebral cortical atrophy Serebral kortikal atrofi O en zh HP:0002120 rdfs:label Cerebral cortical atrophy 大脑皮层萎缩 OFFICIAL en ja HP:0002120 rdfs:label Cerebral cortical atrophy 大脳皮質萎縮 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0002120 rdfs:label Cerebral cortical atrophy Atrofia cortical cerebral OFFICIAL -en cs HP:0002121 IAO:0000115 A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. Záchvaty typu absence se projevují náhlým zastavením aktivity a vědomí. Absence se obvykle vyskytují v mladších věkových skupinách, mají náhlejší začátek a konec a obvykle se u nich projevují méně komplexní automatizmy než u fokálních záchvatů s poruchou vědomí, ale toto rozlišení není absolutní. OFFICIAL -en tr HP:0002121 IAO:0000115 A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. Absans nöbetleri hareket ve uyanıklığın ani kesilmesi ile kendini gösterir. Absans nöbetleri genç yaş gruplarında meydana gelmeye eğimlidir, daha erken başlangıç ve bitişe sahiptir ve bozulmuş uyanıklık ile olan fokal nöbetlerin gösterdiğinden daha az karmaşık fakat ayrımının mutlak olmadığı otomatizmalar sergiler CANDIDATE +en cs HP:0002121 IAO:0000115 A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. Záchvaty typu absence se projevují náhlým zastavením aktivity a vědomí. Absence se obvykle vyskytují v mladších věkových skupinách, mají náhlejší začátek a konec a obvykle se u nich projevují méně komplexní automatizmy než u fokálních záchvatů s poruchou vědomí, ale toto rozlišení není absolutní. CANDIDATE +en tr HP:0002121 IAO:0000115 A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. Absans nöbetleri hareket ve uyanıklığın ani kesilmesi ile kendini gösterir. Absans nöbetleri genç yaş gruplarında meydana gelmeye eğimlidir, daha erken başlangıç ve bitişe sahiptir ve bozulmuş uyanıklık ile olan fokal nöbetlerin gösterdiğinden daha az karmaşık fakat ayrımının mutlak olmadığı otomatizmalar sergiler CANDIDATE en nl HP:0002121 rdfs:label Generalized non-motor (absence) seizure Absences CANDIDATE en fr HP:0002121 rdfs:label Generalized non-motor (absence) seizure Absence épileptique CANDIDATE label of HP:0002121 (Absence seizure) ; abnormality of the nervous system en cs HP:0002121 rdfs:label Generalized non-motor (absence) seizure Generalizovaný nemotorický záchvat (absence) OFFICIAL @@ -14594,8 +14594,8 @@ en tr HP:0002121 rdfs:label Generalized non-motor (absence) seizure Absans nöbe en zh HP:0002121 rdfs:label Generalized non-motor (absence) seizure 失神发作 OFFICIAL en ja HP:0002121 rdfs:label Generalized non-motor (absence) seizure 欠神発作 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0002121 rdfs:label Generalized non-motor (absence) seizure Crisis de ausencia CANDIDATE -en cs HP:0002123 IAO:0000115 A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. Generalizovaný myoklonický záchvat je typ generalizovaného motorického záchvatu charakterizovaného bilaterální, náhlou, krátkou (100 ms) mimovolní kontrakcí jednoho nebo více svalů nebo svalových skupin s různou topografií (axiální, proximální končetiny, distální). Myoklonus je méně pravidelně se opakující a méně trvalý než klonus. OFFICIAL -en tr HP:0002123 IAO:0000115 A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. Kas(lar) ın veya değişik topografideki (aksiyal, proksimal uzuv, distal) kas gruplarının ani, kısa (<100 ms) istemsiz tek veya çoklu kasılması(ları) ile olan nöbetler CANDIDATE +en cs HP:0002123 IAO:0000115 A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. Generalizovaný myoklonický záchvat je typ generalizovaného motorického záchvatu charakterizovaného bilaterální, náhlou, krátkou (100 ms) mimovolní kontrakcí jednoho nebo více svalů nebo svalových skupin s různou topografií (axiální, proximální končetiny, distální). Myoklonus je méně pravidelně se opakující a méně trvalý než klonus. CANDIDATE +en tr HP:0002123 IAO:0000115 A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. Kas(lar) ın veya değişik topografideki (aksiyal, proksimal uzuv, distal) kas gruplarının ani, kısa (<100 ms) istemsiz tek veya çoklu kasılması(ları) ile olan nöbetler CANDIDATE en nl HP:0002123 rdfs:label Generalized myoclonic seizure Gegeneraliseerde myoclonische insulten CANDIDATE en fr HP:0002123 rdfs:label Generalized myoclonic seizure Epilepsie myoclonique généralisée CANDIDATE label of HP:0002123 (Generalized myoclonic seizures) ; abnormality of the nervous system en cs HP:0002123 rdfs:label Generalized myoclonic seizure Generalizovaný myoklonický záchvat OFFICIAL @@ -15284,7 +15284,7 @@ en tr HP:0002223 rdfs:label Absent eyebrow Kaş eksikliği OFFICIAL en zh HP:0002223 rdfs:label Absent eyebrow 无眉 OFFICIAL en ja HP:0002223 rdfs:label Absent eyebrow 眉毛欠損 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0002223 rdfs:label Absent eyebrow Ausencia de cejas OFFICIAL -en cs HP:0002224 IAO:0000115 The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. Termín vlnité vlasy označuje abnormální variantu vlasů, které jsou jemné, s pevně stočenými kadeřemi a často hypopigmentované. Optická mikroskopie může odhalit přítomnost těsných spirál a zřetelné zmenšení průměru ve srovnání s normálními vlasy. Elektronová mikroskopie může ukázat ploché, oválné vlasové stvoly se zmenšeným příčným průměrem. CANDIDATE +en cs HP:0002224 IAO:0000115 The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. Termín vlnité vlasy označuje abnormální variantu vlasů, které jsou jemné, s pevně stočenými kadeřemi a často hypopigmentované. Optická mikroskopie může odhalit přítomnost těsných spirál a zřetelné zmenšení průměru ve srovnání s normálními vlasy. Elektronová mikroskopie může ukázat ploché, oválné vlasové stvoly se zmenšeným příčným průměrem. CANDIDATE en nl HP:0002224 rdfs:label Woolly hair Wollig haar CANDIDATE en fr HP:0002224 rdfs:label Woolly hair Cheveux laineux OFFICIAL label of HP:0002224 (Woolly hair) ; abnormality of the integument en cs HP:0002224 rdfs:label Woolly hair Vlnité vlasy OFFICIAL @@ -16632,8 +16632,8 @@ en tr HP:0002475 rdfs:label Myelomeningocele Myelomeningosel OFFICIAL en zh HP:0002475 rdfs:label Myelomeningocele 脊髓脊膜膨出 OFFICIAL en ja HP:0002475 rdfs:label Myelomeningocele 脊髄髄膜瘤 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0002475 rdfs:label Myelomeningocele Mielomeningocele OFFICIAL -en cs HP:0002476 IAO:0000115 The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant. Primitivní reflexy jsou skupinou behaviorálních motorických reakcí, které se vyskytují v normálním raném vývoji, následně jsou inhibovány, ale mohou být uvolněny z inhibice při poškození mozku, obvykle frontálním. Jsou tedy součástí širší skupiny reflexů, které odrážejí uvolňovací jevy, jako jsou přehnané natahovací reflexy a extenzorové plantární reflexy. Zahrnují však složitější motorické reakce než tyto jednoduché protahovací reflexy a jsou často normálním rysem u novorozenců nebo kojenců. OFFICIAL -en tr HP:0002476 IAO:0000115 The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant. İlkel refleksler, normal erken gelişimde bulunan, daha sonra inhibe edilen, ancak serebral, genellikle frontal hasarla inhibisyondan salınabilen bir grup davranışsal motor tepkisidir. Bu nedenle, abartılı esnek refleksler ve ekstansör bataklıklar gibi serbest bırakma olaylarını yansıtan daha geniş bir refleks grubunun parçasıdırlar. Bununla birlikte, bu tür basit esnek reflekslerden daha karmaşık motor yanıtları içerirler ve genellikle yeni doğanlarda veya bebeklerde normal bir özelliktir CANDIDATE +en cs HP:0002476 IAO:0000115 The primitive reflexes are a group of behavioral motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant. Primitivní reflexy jsou skupinou behaviorálních motorických reakcí, které se vyskytují v normálním raném vývoji, následně jsou inhibovány, ale mohou být uvolněny z inhibice při poškození mozku, obvykle frontálním. Jsou tedy součástí širší skupiny reflexů, které odrážejí uvolňovací jevy, jako jsou přehnané natahovací reflexy a extenzorové plantární reflexy. Zahrnují však složitější motorické reakce než tyto jednoduché protahovací reflexy a jsou často normálním rysem u novorozenců nebo kojenců. CANDIDATE +en tr HP:0002476 IAO:0000115 The primitive reflexes are a group of behavioral motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant. İlkel refleksler, normal erken gelişimde bulunan, daha sonra inhibe edilen, ancak serebral, genellikle frontal hasarla inhibisyondan salınabilen bir grup davranışsal motor tepkisidir. Bu nedenle, abartılı esnek refleksler ve ekstansör bataklıklar gibi serbest bırakma olaylarını yansıtan daha geniş bir refleks grubunun parçasıdırlar. Bununla birlikte, bu tür basit esnek reflekslerden daha karmaşık motor yanıtları içerirler ve genellikle yeni doğanlarda veya bebeklerde normal bir özelliktir CANDIDATE en nl HP:0002476 rdfs:label Primitive reflex Primitieve reflex CANDIDATE en fr HP:0002476 rdfs:label Primitive reflex Réflexe primitif OFFICIAL label of HP:0002476 (Primitive reflex) ; abnormality of the nervous system en cs HP:0002476 rdfs:label Primitive reflex Primitivní reflex OFFICIAL @@ -18358,15 +18358,15 @@ en tr HP:0002743 rdfs:label Recurrent enteroviral infections Rekürren enterovir en zh HP:0002743 rdfs:label Recurrent enteroviral infections 反复肠病毒感染 OFFICIAL en ja HP:0002743 rdfs:label Recurrent enteroviral infections 反復性エンテロウイルス感染症 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0002743 rdfs:label Recurrent enteroviral infections Infecciones recurrentes por enterovirus OFFICIAL -en cs HP:0002744 IAO:0000115 Cleft lip and cleft palate affecting both sides of the face. Rozštěp rtu a rozštěp patra postihující obě strany obličeje OFFICIAL -en tr HP:0002744 IAO:0000115 Cleft lip and cleft palate affecting both sides of the face. Suratın iki tarafını da etkileyen yarık dudak ve yarık damak OFFICIAL -en nl HP:0002744 rdfs:label Bilateral cleft lip and palate Bilaterale gespleten lip en gehemelte CANDIDATE -en fr HP:0002744 rdfs:label Bilateral cleft lip and palate Fente labiale/palatine bilatérale OFFICIAL label of HP:0002744 (Bilateral cleft lip and palate) ; abnormality of head or neck -en cs HP:0002744 rdfs:label Bilateral cleft lip and palate Rozštěp tvrdého patra s oboustranným rozštěpem rtu OFFICIAL -en tr HP:0002744 rdfs:label Bilateral cleft lip and palate Çift taraflı yarık dudak ve damak OFFICIAL -en zh HP:0002744 rdfs:label Bilateral cleft lip and palate 双侧唇腭裂 OFFICIAL -en ja HP:0002744 rdfs:label Bilateral cleft lip and palate 両側性口唇口蓋裂 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT -en es HP:0002744 rdfs:label Bilateral cleft lip and palate Hendidura de labio y paladar bilateral OFFICIAL +en cs HP:0002744 IAO:0000115 Cleft lip and cleft palate affecting both sides of the face Rozštěp rtu a rozštěp patra postihující obě strany obličeje OFFICIAL +en tr HP:0002744 IAO:0000115 Cleft lip and cleft palate affecting both sides of the face Suratın iki tarafını da etkileyen yarık dudak ve yarık damak OFFICIAL +en nl HP:0002744 rdfs:label obsolete Bilateral cleft lip and palate Bilaterale gespleten lip en gehemelte CANDIDATE +en fr HP:0002744 rdfs:label obsolete Bilateral cleft lip and palate Fente labiale/palatine bilatérale CANDIDATE label of HP:0002744 (Bilateral cleft lip and palate) ; abnormality of head or neck +en cs HP:0002744 rdfs:label obsolete Bilateral cleft lip and palate Rozštěp tvrdého patra s oboustranným rozštěpem rtu CANDIDATE +en tr HP:0002744 rdfs:label obsolete Bilateral cleft lip and palate Çift taraflı yarık dudak ve damak CANDIDATE +en zh HP:0002744 rdfs:label obsolete Bilateral cleft lip and palate 双侧唇腭裂 CANDIDATE +en ja HP:0002744 rdfs:label obsolete Bilateral cleft lip and palate 両側性口唇口蓋裂 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT +en es HP:0002744 rdfs:label obsolete Bilateral cleft lip and palate Hendidura de labio y paladar bilateral CANDIDATE en cs HP:0002745 IAO:0000115 A thickened white patch on the oral mucosa that cannot be rubbed off. Ztluštělá bílá skvrna na sliznici dutiny ústní, kterou nelze setřít OFFICIAL en tr HP:0002745 IAO:0000115 A thickened white patch on the oral mucosa that cannot be rubbed off. Ovuşturulamayan oral mukozada kalınlaşmış beyaz bir yama CANDIDATE en nl HP:0002745 rdfs:label Oral leukoplakia Orale leukoplakie CANDIDATE @@ -21260,8 +21260,8 @@ en tr HP:0003219 rdfs:label Ethylmalonic aciduria Etilmalonik asidüri OFFICIAL en zh HP:0003219 rdfs:label Ethylmalonic aciduria 乙基丙二酸尿症 OFFICIAL en ja HP:0003219 rdfs:label Ethylmalonic aciduria エチルマロン酸尿 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0003219 rdfs:label Ethylmalonic aciduria Aciduria etilmalónico OFFICIAL -en cs HP:0003220 IAO:0000115 A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration. Typ chromozomové aberace charakterizovaný sníženou odolností chromozomů k poškození OFFICIAL -en tr HP:0003220 IAO:0000115 A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration. Kromozomların değişime veya bozulmaya karşı direncini düşüren bir çeşit kromozomal sapma CANDIDATE +en cs HP:0003220 IAO:0000115 A type of chromosomal aberration characterized by reduced resistance of chromosomes to change or deterioration. Typ chromozomové aberace charakterizovaný sníženou odolností chromozomů k poškození CANDIDATE +en tr HP:0003220 IAO:0000115 A type of chromosomal aberration characterized by reduced resistance of chromosomes to change or deterioration. Kromozomların değişime veya bozulmaya karşı direncini düşüren bir çeşit kromozomal sapma CANDIDATE en nl HP:0003220 rdfs:label Abnormality of chromosome stability Afwijking van chromosoom stabiliteit CANDIDATE en fr HP:0003220 rdfs:label Abnormality of chromosome stability Anomalie de la stabilité chromosomique OFFICIAL label of HP:0003220 (Abnormality of chromosome stability) ; abnormality of metabolism/homeostasis ; abnormal cellular phenotype en cs HP:0003220 rdfs:label Abnormality of chromosome stability Chromozomová instabilita OFFICIAL @@ -22657,13 +22657,13 @@ en tr HP:0003451 rdfs:label Increased rate of premature chromosome condensation en zh HP:0003451 rdfs:label Increased rate of premature chromosome condensation 早熟染色体凝缩率增高 OFFICIAL en ja HP:0003451 rdfs:label Increased rate of premature chromosome condensation 早期染色体濃縮率の増加 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0003451 rdfs:label Increased rate of premature chromosome condensation Aumento de velocidad de condensación prematura de cromosomas OFFICIAL -en nl HP:0003452 rdfs:label Increased serum iron Verhoogd serum ijzer CANDIDATE -en fr HP:0003452 rdfs:label Increased serum iron Augmentation du fer serique OFFICIAL label of HP:0003452 (Increased serum iron) ; abnormality of metabolism/homeostasis -en cs HP:0003452 rdfs:label Increased serum iron Zvýšené sérové železo OFFICIAL -en tr HP:0003452 rdfs:label Increased serum iron Artmış serum demiri OFFICIAL -en zh HP:0003452 rdfs:label Increased serum iron 血清铁离子增高 OFFICIAL -en ja HP:0003452 rdfs:label Increased serum iron 血清鉄増加 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT -en es HP:0003452 rdfs:label Increased serum iron Aumento de hierro sérico OFFICIAL +en nl HP:0003452 rdfs:label Increased circulating iron concentration Verhoogd serum ijzer CANDIDATE +en fr HP:0003452 rdfs:label Increased circulating iron concentration Augmentation du fer serique CANDIDATE label of HP:0003452 (Increased serum iron) ; abnormality of metabolism/homeostasis +en cs HP:0003452 rdfs:label Increased circulating iron concentration Zvýšené sérové železo CANDIDATE +en tr HP:0003452 rdfs:label Increased circulating iron concentration Artmış serum demiri CANDIDATE +en zh HP:0003452 rdfs:label Increased circulating iron concentration 血清铁离子增高 CANDIDATE +en ja HP:0003452 rdfs:label Increased circulating iron concentration 血清鉄増加 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT +en es HP:0003452 rdfs:label Increased circulating iron concentration Aumento de hierro sérico CANDIDATE en cs HP:0003453 IAO:0000115 The presence of autoantibodies in the serum that react against neutrophils. Přítomnost autoprotilátek v séru, které reagují proti neutrofilům OFFICIAL en tr HP:0003453 IAO:0000115 The presence of autoantibodies in the serum that react against neutrophils. Serumda nötrofillere tepki veren otoantikorların varlığı OFFICIAL en nl HP:0003453 rdfs:label Antineutrophil antibody positivity Antineutrofiele antistoffen positiviteit CANDIDATE @@ -23525,15 +23525,15 @@ en tr HP:0003635 rdfs:label Loss of subcutaneous adipose tissue in limbs Uzuvlar en zh HP:0003635 rdfs:label Loss of subcutaneous adipose tissue in limbs 四肢皮下脂肪组织丢失 OFFICIAL en ja HP:0003635 rdfs:label Loss of subcutaneous adipose tissue in limbs 四肢の皮下脂肪組織喪失 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0003635 rdfs:label Loss of subcutaneous adipose tissue in limbs Pérdida de tejido adiposo subcutáneo en las extremidades OFFICIAL -en cs HP:0003637 IAO:0000115 An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase level. Abnormální snížení hladiny 4-hydroxyfenylpyruvátdioxygenázy OFFICIAL -en tr HP:0003637 IAO:0000115 An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase level. 4-hidroksifenilpirüvat dioksijenaz aktivitesinde anormal bir azalma CANDIDATE -en nl HP:0003637 rdfs:label Reduced 4-Hydroxyphenylpyruvate dioxygenase level Verminderde 4-hydroxyfenylpyruvaat-dioxygenase activiteit CANDIDATE -en fr HP:0003637 rdfs:label Reduced 4-Hydroxyphenylpyruvate dioxygenase level Activité réduite de la 4-hydroxyphénylpyruvate dioxygénase CANDIDATE label of HP:0003637 (Reduced 4-Hydroxyphenylpyruvate dioxygenase activity) ; abnormality of metabolism/homeostasis -en cs HP:0003637 rdfs:label Reduced 4-Hydroxyphenylpyruvate dioxygenase level Snížená hladina 4-hydroxyfenylpyruvátdioxygenázy OFFICIAL -en tr HP:0003637 rdfs:label Reduced 4-Hydroxyphenylpyruvate dioxygenase level Azalmış 4-hidroksifenilpirüvat dioksijenaz aktivitesi CANDIDATE -en zh HP:0003637 rdfs:label Reduced 4-Hydroxyphenylpyruvate dioxygenase level 4-羟基苯丙酮酸双加氧酶活性降低 OFFICIAL -en ja HP:0003637 rdfs:label Reduced 4-Hydroxyphenylpyruvate dioxygenase level 4-Hydroxyphenylpyruvate dioxygenase 活性減少 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT -en es HP:0003637 rdfs:label Reduced 4-Hydroxyphenylpyruvate dioxygenase level Disminución de la actividad de 4 hidroxifenilpiruvato dioxigenasa CANDIDATE +en cs HP:0003637 IAO:0000115 Activity or concentration of 4-hydroxyphenylpyruvate dioxygenase in the blood circulation below the lower limit of normal. Abnormální snížení hladiny 4-hydroxyfenylpyruvátdioxygenázy CANDIDATE +en tr HP:0003637 IAO:0000115 Activity or concentration of 4-hydroxyphenylpyruvate dioxygenase in the blood circulation below the lower limit of normal. 4-hidroksifenilpirüvat dioksijenaz aktivitesinde anormal bir azalma CANDIDATE +en nl HP:0003637 rdfs:label Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity Verminderde 4-hydroxyfenylpyruvaat-dioxygenase activiteit CANDIDATE +en fr HP:0003637 rdfs:label Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity Activité réduite de la 4-hydroxyphénylpyruvate dioxygénase CANDIDATE label of HP:0003637 (Reduced 4-Hydroxyphenylpyruvate dioxygenase activity) ; abnormality of metabolism/homeostasis +en cs HP:0003637 rdfs:label Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity Snížená hladina 4-hydroxyfenylpyruvátdioxygenázy CANDIDATE +en tr HP:0003637 rdfs:label Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity Azalmış 4-hidroksifenilpirüvat dioksijenaz aktivitesi CANDIDATE +en zh HP:0003637 rdfs:label Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity 4-羟基苯丙酮酸双加氧酶活性降低 CANDIDATE +en ja HP:0003637 rdfs:label Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity 4-Hydroxyphenylpyruvate dioxygenase 活性減少 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT +en es HP:0003637 rdfs:label Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity Disminución de la actividad de 4 hidroxifenilpiruvato dioxigenasa CANDIDATE en cs HP:0003639 IAO:0000115 The concentration of epinephrine in the urine, normalized for urine concentration, is above the upper limit of normal. Zvýšená koncentrace adrenalinu v moči CANDIDATE en tr HP:0003639 IAO:0000115 The concentration of epinephrine in the urine, normalized for urine concentration, is above the upper limit of normal. İdrarda artmış adrenalin konsantrasyonu CANDIDATE en nl HP:0003639 rdfs:label Elevated urinary epinephrine level Verhoogd urinair epinefrine CANDIDATE @@ -26988,8 +26988,8 @@ en tr HP:0004327 rdfs:label Abnormal vitreous humor morphology Vitröz humor ano en zh HP:0004327 rdfs:label Abnormal vitreous humor morphology 玻璃体异常 OFFICIAL en ja HP:0004327 rdfs:label Abnormal vitreous humor morphology 硝子体液の異常 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0004327 rdfs:label Abnormal vitreous humor morphology Anomalía del humor vítreo OFFICIAL -en cs HP:0004328 IAO:0000115 An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens). Abnormalita předního segmentu oční koule (který zahrnuje struktury před sklivcem: rohovku, duhovku, řasnaté tělísko a čočku). OFFICIAL -en tr HP:0004328 IAO:0000115 An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens). Göz yuvarlağının ön bölümünde bir anormallik (vitröz hümorun önündeki yapıları içerir: kornea, iris, silier cisim ve lens) CANDIDATE +en cs HP:0004328 IAO:0000115 An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humor: the cornea, iris, ciliary body, and lens). Abnormalita předního segmentu oční koule (který zahrnuje struktury před sklivcem: rohovku, duhovku, řasnaté tělísko a čočku). CANDIDATE +en tr HP:0004328 IAO:0000115 An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humor: the cornea, iris, ciliary body, and lens). Göz yuvarlağının ön bölümünde bir anormallik (vitröz hümorun önündeki yapıları içerir: kornea, iris, silier cisim ve lens) CANDIDATE en nl HP:0004328 rdfs:label Abnormal anterior eye segment morphology Afwijking van het anterieure segment van de oogbol CANDIDATE en fr HP:0004328 rdfs:label Abnormal anterior eye segment morphology Anomalie morphologique du segment antérieur de l'oeil OFFICIAL label of HP:0004328 (Abnormal anterior eye segment morphology) ; abnormality of the eye en cs HP:0004328 rdfs:label Abnormal anterior eye segment morphology Abnormální morfologie předního očního segmentu OFFICIAL @@ -27526,8 +27526,8 @@ en tr HP:0004397 rdfs:label Ectopic anus Ektopik anüs OFFICIAL en zh HP:0004397 rdfs:label Ectopic anus 肛门异位 OFFICIAL en ja HP:0004397 rdfs:label Ectopic anus 異所性肛門 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0004397 rdfs:label Ectopic anus Ano ectópico OFFICIAL -en cs HP:0004398 IAO:0000115 The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the oesophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers. Termín peptický vřed označuje kyselé peptické poškození trávicího traktu, které vede k porušení sliznice až do podkoží. Peptické vředy se obvykle nacházejí v žaludku nebo proximálním duodenu, ale mohou se vyskytovat i v jícnu nebo Meckelově divertiklu. Infekce Helicobacter pylori a užívání nesteroidních protizánětlivých léků (NSAID) nebo aspirinu jsou hlavními rizikovými faktory vzniku žaludečních i dvanáctníkových vředů. OFFICIAL -en tr HP:0004398 IAO:0000115 The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the oesophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers. Gastrointestinal kanalın bir ülseri CANDIDATE +en cs HP:0004398 IAO:0000115 The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the esophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers. Termín peptický vřed označuje kyselé peptické poškození trávicího traktu, které vede k porušení sliznice až do podkoží. Peptické vředy se obvykle nacházejí v žaludku nebo proximálním duodenu, ale mohou se vyskytovat i v jícnu nebo Meckelově divertiklu. Infekce Helicobacter pylori a užívání nesteroidních protizánětlivých léků (NSAID) nebo aspirinu jsou hlavními rizikovými faktory vzniku žaludečních i dvanáctníkových vředů. CANDIDATE +en tr HP:0004398 IAO:0000115 The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the esophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers. Gastrointestinal kanalın bir ülseri CANDIDATE en nl HP:0004398 rdfs:label Peptic ulcer Ulcus pepticum CANDIDATE en fr HP:0004398 rdfs:label Peptic ulcer Ulcère peptique OFFICIAL label of HP:0004398 (Peptic ulcer) ; abnormality of the digestive system en cs HP:0004398 rdfs:label Peptic ulcer Peptický vřed OFFICIAL @@ -27760,13 +27760,13 @@ en ja HP:0004430 rdfs:label Severe combined immunodeficiency 重症複合型免 en es HP:0004430 rdfs:label Severe combined immunodeficiency Inmunodeficiencia combinada severa OFFICIAL en cs HP:0004431 IAO:0000115 An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins. Imunodeficit definovaný nepřítomnou nebo suboptimální funkcí jednoho z proteinu komplementového systému OFFICIAL en tr HP:0004431 IAO:0000115 An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins. Kompleman sistem proteinlerinden birinin var olmayan ya da optimal olmayan işleyişi ile tanımlanan bir immün yetmezliği CANDIDATE -en nl HP:0004431 rdfs:label Complement deficiency Complement deficiëntie CANDIDATE -en fr HP:0004431 rdfs:label Complement deficiency Déficit en complément OFFICIAL label of HP:0004431 (Complement deficiency) ; abnormality of the immune system -en cs HP:0004431 rdfs:label Complement deficiency Nedostatek komplementu OFFICIAL -en tr HP:0004431 rdfs:label Complement deficiency Kompleman eksikliği OFFICIAL -en zh HP:0004431 rdfs:label Complement deficiency 补体缺陷 OFFICIAL -en ja HP:0004431 rdfs:label Complement deficiency 補体欠乏症 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT -en es HP:0004431 rdfs:label Complement deficiency Deficiencia del complemento OFFICIAL +en nl HP:0004431 rdfs:label Reduced circulating complement concentration Complement deficiëntie CANDIDATE +en fr HP:0004431 rdfs:label Reduced circulating complement concentration Déficit en complément CANDIDATE label of HP:0004431 (Complement deficiency) ; abnormality of the immune system +en cs HP:0004431 rdfs:label Reduced circulating complement concentration Nedostatek komplementu CANDIDATE +en tr HP:0004431 rdfs:label Reduced circulating complement concentration Kompleman eksikliği CANDIDATE +en zh HP:0004431 rdfs:label Reduced circulating complement concentration 补体缺陷 CANDIDATE +en ja HP:0004431 rdfs:label Reduced circulating complement concentration 補体欠乏症 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT +en es HP:0004431 rdfs:label Reduced circulating complement concentration Deficiencia del complemento CANDIDATE en cs HP:0004432 IAO:0000115 A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured. Absence nebo extrémně nízká hladina IgA, IgM a IgM v oběhu CANDIDATE en tr HP:0004432 IAO:0000115 A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured. Kandaki genellikle tüm gama globulin sınıflarında yokluk veya aşırı düşük seviye CANDIDATE en nl HP:0004432 rdfs:label Agammaglobulinemia Agammaglobulinemie CANDIDATE @@ -29575,8 +29575,8 @@ en tr HP:0004856 rdfs:label Normochromic microcytic anemia Normokromik mikrosite en zh HP:0004856 rdfs:label Normochromic microcytic anemia 小细胞正色素性贫血 OFFICIAL en ja HP:0004856 rdfs:label Normochromic microcytic anemia 性色素性小球性貧血 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0004856 rdfs:label Normochromic microcytic anemia Anemia microcítica normocrómica OFFICIAL -en cs HP:0004857 IAO:0000115 A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin. Typ anémie, která se projevuje abnormálně velkými erytrocyty s abnormálně vysokým množstvím hemoglobinu. CANDIDATE -en tr HP:0004857 IAO:0000115 A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin. Anormal yüksek miktarda hemoglobin içeren anormal büyüklükte eritrositlerle karakterize edilen bir tür anemi CANDIDATE +en cs HP:0004857 IAO:0000115 A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of hemoglobin. Typ anémie, která se projevuje abnormálně velkými erytrocyty s abnormálně vysokým množstvím hemoglobinu. CANDIDATE +en tr HP:0004857 IAO:0000115 A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of hemoglobin. Anormal yüksek miktarda hemoglobin içeren anormal büyüklükte eritrositlerle karakterize edilen bir tür anemi CANDIDATE en nl HP:0004857 rdfs:label Hyperchromic macrocytic anemia Hyperchrome macrocytaire anemie CANDIDATE en fr HP:0004857 rdfs:label Hyperchromic macrocytic anemia Anémie macrocytaire hyperchrome OFFICIAL label of HP:0004857 (Hyperchromic macrocytic anemia) ; abnormality of blood and blood-forming tissues en cs HP:0004857 rdfs:label Hyperchromic macrocytic anemia Hyperchromní makrocytání anémie OFFICIAL @@ -30781,8 +30781,8 @@ en tr HP:0005105 rdfs:label Abnormal nasal morphology Anormal nazal morfoloji OF en zh HP:0005105 rdfs:label Abnormal nasal morphology 鼻形态异常 OFFICIAL en ja HP:0005105 rdfs:label Abnormal nasal morphology 異常な鼻形態 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0005105 rdfs:label Abnormal nasal morphology Morfología nasal anormal OFFICIAL -en cs HP:0005106 IAO:0000115 Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs. Jakákoliv abnormalita krycích ploch obratlů, které jsou na vrchní a spodní části těla obratle, které naléhají na meziobratlové ploténky OFFICIAL -en tr HP:0005106 IAO:0000115 Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs. Vertebral disklerin üst ve alt kısımları olan vertebral uç plakalarının herhangi bir anormalliği, vertebral disklerle arabirim oluşturur CANDIDATE +en cs HP:0005106 IAO:0000115 Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral disks. Jakákoliv abnormalita krycích ploch obratlů, které jsou na vrchní a spodní části těla obratle, které naléhají na meziobratlové ploténky CANDIDATE +en tr HP:0005106 IAO:0000115 Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral disks. Vertebral disklerin üst ve alt kısımları olan vertebral uç plakalarının herhangi bir anormalliği, vertebral disklerle arabirim oluşturur CANDIDATE en nl HP:0005106 rdfs:label Abnormality of the vertebral endplates Afwijking van de vertebrale eindplaten CANDIDATE en fr HP:0005106 rdfs:label Abnormality of the vertebral endplates Anomalie des plateaux vertébraux OFFICIAL label of HP:0005106 (Abnormality of the vertebral endplates) ; abnormality of the skeletal system en cs HP:0005106 rdfs:label Abnormality of the vertebral endplates Abnormalita krycích ploch (vrstvička hyalinní chrupavky) obratlů OFFICIAL @@ -31860,13 +31860,13 @@ en tr HP:0005288 rdfs:label Abnormal nostril morphology Burun deliği anormalli en zh HP:0005288 rdfs:label Abnormal nostril morphology 鼻孔异常 CANDIDATE en ja HP:0005288 rdfs:label Abnormal nostril morphology 鼻孔の異常 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0005288 rdfs:label Abnormal nostril morphology Anomalía de las fosas nasales CANDIDATE -en nl HP:0005289 rdfs:label Abnormality of the nasolabial region Afwijking van de nasolabiale regio CANDIDATE -en fr HP:0005289 rdfs:label Abnormality of the nasolabial region Anomalie de la région nasolabiale OFFICIAL label of HP:0005289 (Abnormality of the nasolabial region) ; abnormality of head or neck -en cs HP:0005289 rdfs:label Abnormality of the nasolabial region Abnormalita nazolabiální oblasti OFFICIAL -en tr HP:0005289 rdfs:label Abnormality of the nasolabial region Nazolabiyal bölgenin anormalliği OFFICIAL -en zh HP:0005289 rdfs:label Abnormality of the nasolabial region 鼻唇区异常 OFFICIAL -en ja HP:0005289 rdfs:label Abnormality of the nasolabial region 鼻唇領域の異常 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT -en es HP:0005289 rdfs:label Abnormality of the nasolabial region Anomalía de la región nasolabial OFFICIAL +en nl HP:0005289 rdfs:label Abnormal nasolabial region morphology Afwijking van de nasolabiale regio CANDIDATE +en fr HP:0005289 rdfs:label Abnormal nasolabial region morphology Anomalie de la région nasolabiale CANDIDATE label of HP:0005289 (Abnormality of the nasolabial region) ; abnormality of head or neck +en cs HP:0005289 rdfs:label Abnormal nasolabial region morphology Abnormalita nazolabiální oblasti CANDIDATE +en tr HP:0005289 rdfs:label Abnormal nasolabial region morphology Nazolabiyal bölgenin anormalliği CANDIDATE +en zh HP:0005289 rdfs:label Abnormal nasolabial region morphology 鼻唇区异常 CANDIDATE +en ja HP:0005289 rdfs:label Abnormal nasolabial region morphology 鼻唇領域の異常 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT +en es HP:0005289 rdfs:label Abnormal nasolabial region morphology Anomalía de la región nasolabial CANDIDATE en nl HP:0005290 rdfs:label Internal carotid artery hypoplasia Arteria carotis interna hypoplasie CANDIDATE en fr HP:0005290 rdfs:label Internal carotid artery hypoplasia Hypoplasie de l'artère carotide interne OFFICIAL label of HP:0005290 (Internal carotid artery hypoplasia) ; abnormality of head or neck ; abnormality of the cardiovascular system en cs HP:0005290 rdfs:label Internal carotid artery hypoplasia Hypoplázie arteria carotis interna OFFICIAL @@ -36926,13 +36926,13 @@ en tr HP:0006415 rdfs:label Cortically dense long tubular bones Kortikal yoğun en zh HP:0006415 rdfs:label Cortically dense long tubular bones 长管骨皮质密度增加 OFFICIAL en ja HP:0006415 rdfs:label Cortically dense long tubular bones 皮質の濃い長管骨 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0006415 rdfs:label Cortically dense long tubular bones Huesos tubulares largos con hiperdensidad de la cortical OFFICIAL -en nl HP:0006417 rdfs:label Broad femoral metaphyses Brede metafysen van femur CANDIDATE -en fr HP:0006417 rdfs:label Broad femoral metaphyses Larges métaphyses fémorales OFFICIAL label of HP:0006417 (Broad femoral metaphyses) ; abnormality of limbs ; abnormality of the skeletal system -en cs HP:0006417 rdfs:label Broad femoral metaphyses Široké metafýzy femuru OFFICIAL -en tr HP:0006417 rdfs:label Broad femoral metaphyses Geniş femoral metafizler OFFICIAL -en zh HP:0006417 rdfs:label Broad femoral metaphyses 股骨干骺端变宽 OFFICIAL -en ja HP:0006417 rdfs:label Broad femoral metaphyses 幅広い大腿骨骨幹端 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT -en es HP:0006417 rdfs:label Broad femoral metaphyses Metáfisis femorales anchas OFFICIAL +en nl HP:0006417 rdfs:label Wide femoral metaphysis Brede metafysen van femur CANDIDATE +en fr HP:0006417 rdfs:label Wide femoral metaphysis Larges métaphyses fémorales CANDIDATE label of HP:0006417 (Broad femoral metaphyses) ; abnormality of limbs ; abnormality of the skeletal system +en cs HP:0006417 rdfs:label Wide femoral metaphysis Široké metafýzy femuru CANDIDATE +en tr HP:0006417 rdfs:label Wide femoral metaphysis Geniş femoral metafizler CANDIDATE +en zh HP:0006417 rdfs:label Wide femoral metaphysis 股骨干骺端变宽 CANDIDATE +en ja HP:0006417 rdfs:label Wide femoral metaphysis 幅広い大腿骨骨幹端 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT +en es HP:0006417 rdfs:label Wide femoral metaphysis Metáfisis femorales anchas CANDIDATE en cs HP:0006420 IAO:0000115 The presence of asymmetric developmental dysplasia of the radius. Přítomnost asymetrické vývojové dysplazie radia OFFICIAL en tr HP:0006420 IAO:0000115 The presence of asymmetric developmental dysplasia of the radius. Radiusta asimetrik gelişimsel displazisi varlığı CANDIDATE en nl HP:0006420 rdfs:label Asymmetric radial dysplasia Assymetrische radius dysplasie CANDIDATE @@ -36975,13 +36975,13 @@ en ja HP:0006429 rdfs:label Broad femoral neck 幅広い大腿骨頸部 OFFICIAL en es HP:0006429 rdfs:label Broad femoral neck Cuello femoral ancho OFFICIAL en cs HP:0006431 IAO:0000115 An anomaly of the metaphysis of the proximal femur (close to the hip). Anomálie metafýzy proximálního femuru (části blízko u kyčle) OFFICIAL en tr HP:0006431 IAO:0000115 An anomaly of the metaphysis of the proximal femur (close to the hip). Proksimal femurun (kalçaya yakın) metafizinin bir anomalisi CANDIDATE -en nl HP:0006431 rdfs:label Proximal femoral metaphyseal abnormality Proximale femorale metafysaire afwijking CANDIDATE -en fr HP:0006431 rdfs:label Proximal femoral metaphyseal abnormality Anomalies métaphysaires des fémurs proximaux OFFICIAL label of HP:0006431 (Proximal femoral metaphyseal abnormality) ; abnormality of limbs ; abnormality of the skeletal system -en cs HP:0006431 rdfs:label Proximal femoral metaphyseal abnormality Abnormalita proximální femorální metafýzy OFFICIAL -en tr HP:0006431 rdfs:label Proximal femoral metaphyseal abnormality Proksimal femoral metafizyal anormallik CANDIDATE -en zh HP:0006431 rdfs:label Proximal femoral metaphyseal abnormality 股骨近端干骺端异常 OFFICIAL -en ja HP:0006431 rdfs:label Proximal femoral metaphyseal abnormality 遠位および近位大腿骨の骨幹端異常 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT -en es HP:0006431 rdfs:label Proximal femoral metaphyseal abnormality Anomalías metafisaria de fémur distal y proximal OFFICIAL +en nl HP:0006431 rdfs:label Abnormal proximal femoral metaphysis morphology Proximale femorale metafysaire afwijking CANDIDATE +en fr HP:0006431 rdfs:label Abnormal proximal femoral metaphysis morphology Anomalies métaphysaires des fémurs proximaux CANDIDATE label of HP:0006431 (Proximal femoral metaphyseal abnormality) ; abnormality of limbs ; abnormality of the skeletal system +en cs HP:0006431 rdfs:label Abnormal proximal femoral metaphysis morphology Abnormalita proximální femorální metafýzy CANDIDATE +en tr HP:0006431 rdfs:label Abnormal proximal femoral metaphysis morphology Proksimal femoral metafizyal anormallik CANDIDATE +en zh HP:0006431 rdfs:label Abnormal proximal femoral metaphysis morphology 股骨近端干骺端异常 CANDIDATE +en ja HP:0006431 rdfs:label Abnormal proximal femoral metaphysis morphology 遠位および近位大腿骨の骨幹端異常 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT +en es HP:0006431 rdfs:label Abnormal proximal femoral metaphysis morphology Anomalías metafisaria de fémur distal y proximal CANDIDATE en nl HP:0006432 rdfs:label Trapezoidal distal femoral condyles Trapezium-vormige distale femurcondylen CANDIDATE en fr HP:0006432 rdfs:label Trapezoidal distal femoral condyles Condyles fémoraux distaux trapézoïdaux OFFICIAL label of HP:0006432 (Trapezoidal distal femoral condyles) ; abnormality of limbs ; abnormality of the skeletal system en cs HP:0006432 rdfs:label Trapezoidal distal femoral condyles Lichoběžníkové distální kondyly femuru OFFICIAL @@ -40736,8 +40736,8 @@ en tr HP:0007269 rdfs:label Spinal muscular atrophy Spinal kas atrofisi OFFICIAL en zh HP:0007269 rdfs:label Spinal muscular atrophy 脊肌萎缩 OFFICIAL en ja HP:0007269 rdfs:label Spinal muscular atrophy 脊髄性筋萎縮 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0007269 rdfs:label Spinal muscular atrophy Atrofia muscular espinal OFFICIAL -en cs HP:0007270 IAO:0000115 An atypical absence seizure is a type of generalised non-motor (absence) seizure characterised by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity. Atypický záchvat absence je typ generalizovaného nemotorického záchvatu (absence), který se vyznačuje přerušením probíhajících činností a sníženou reaktivitou. Ve srovnání s typickým záchvatem absence mohou být změny tonu výraznější, nástup a/nebo ukončení záchvatu mohou být méně náhlé a doba trvání iktu a zotavení po záchvatu může být delší. Ačkoli není vždy k dispozici, EEG často prokazuje pomalou (<3 Hz), nepravidelnou, generalizovanou aktivitu s hroty a vlnami. OFFICIAL -en tr HP:0007270 IAO:0000115 An atypical absence seizure is a type of generalised non-motor (absence) seizure characterised by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity. Gizlice nitelenen yokluk tutulmaları başlar ve biter ve sık sık süreci uzatır, Elektroensefalografi üzerinde yavaş dik-dalga deşarjları tarafından eşlik edilir CANDIDATE +en cs HP:0007270 IAO:0000115 An atypical absence seizure is a type of generalized non-motor (absence) seizure characterized by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity. Atypický záchvat absence je typ generalizovaného nemotorického záchvatu (absence), který se vyznačuje přerušením probíhajících činností a sníženou reaktivitou. Ve srovnání s typickým záchvatem absence mohou být změny tonu výraznější, nástup a/nebo ukončení záchvatu mohou být méně náhlé a doba trvání iktu a zotavení po záchvatu může být delší. Ačkoli není vždy k dispozici, EEG často prokazuje pomalou (<3 Hz), nepravidelnou, generalizovanou aktivitu s hroty a vlnami. CANDIDATE +en tr HP:0007270 IAO:0000115 An atypical absence seizure is a type of generalized non-motor (absence) seizure characterized by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity. Gizlice nitelenen yokluk tutulmaları başlar ve biter ve sık sık süreci uzatır, Elektroensefalografi üzerinde yavaş dik-dalga deşarjları tarafından eşlik edilir CANDIDATE en nl HP:0007270 rdfs:label Atypical absence seizure Atypische absence aanvallen CANDIDATE en fr HP:0007270 rdfs:label Atypical absence seizure Absences épileptiques atypiques OFFICIAL label of HP:0007270 (Atypical absence seizure) ; abnormality of the nervous system en cs HP:0007270 rdfs:label Atypical absence seizure Atypické absence OFFICIAL @@ -41424,8 +41424,8 @@ en tr HP:0007412 rdfs:label Macular hyperpigmented dermopathy Maküler hiperpigm en zh HP:0007412 rdfs:label Macular hyperpigmented dermopathy 斑疹样色素沉着性皮肤病 OFFICIAL en ja HP:0007412 rdfs:label Macular hyperpigmented dermopathy 斑状色素沈着性皮膚症 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0007412 rdfs:label Macular hyperpigmented dermopathy Dermopatía hiperpigmentada macular OFFICIAL -en cs HP:0007413 IAO:0000115 Naevus flammeus localised in the skin of the forehead. Naevus flammeus lokalizovaný na kůži čela OFFICIAL -en tr HP:0007413 IAO:0000115 Naevus flammeus localised in the skin of the forehead. Porto şarap lekesi alnın derisinde lokalizedir CANDIDATE +en cs HP:0007413 IAO:0000115 Naevus flammeus localized in the skin of the forehead. Naevus flammeus lokalizovaný na kůži čela CANDIDATE +en tr HP:0007413 IAO:0000115 Naevus flammeus localized in the skin of the forehead. Porto şarap lekesi alnın derisinde lokalizedir CANDIDATE en nl HP:0007413 rdfs:label Nevus flammeus of the forehead Naevus flammeus van het voorhoofd CANDIDATE en fr HP:0007413 rdfs:label Nevus flammeus of the forehead Naevus flammeux du front OFFICIAL label of HP:0007413 (Nevus flammeus of the forehead) ; abnormality of the integument en cs HP:0007413 rdfs:label Nevus flammeus of the forehead Nevus flammenus na čele OFFICIAL @@ -42469,8 +42469,8 @@ en tr HP:0007613 rdfs:label Spinous keratoses of palms and soles Avuç içlerini en zh HP:0007613 rdfs:label Spinous keratoses of palms and soles 掌跖皮肤棘状角化 OFFICIAL en ja HP:0007613 rdfs:label Spinous keratoses of palms and soles 掌蹠有棘角化症 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0007613 rdfs:label Spinous keratoses of palms and soles Queratosis espinosas de palmas y plantas OFFICIAL -en cs HP:0007616 IAO:0000115 Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns. Naevus flammeus lokalizovaný na kůži na krku. Jedná se o jedno z nejčastějších mateřských znamének, které se vyskytuje přibližně u 25 % všech novorozenců. OFFICIAL -en tr HP:0007616 IAO:0000115 Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns. Naevus flammeus un boyun derisine yerleşmesi. Bu, en yaygın doğum lekelerinden biridir ve tüm yeni doğanların yaklaşık% 25'inde mevcuttur CANDIDATE +en cs HP:0007616 IAO:0000115 Naevus flammeus localized in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns. Naevus flammeus lokalizovaný na kůži na krku. Jedná se o jedno z nejčastějších mateřských znamének, které se vyskytuje přibližně u 25 % všech novorozenců. CANDIDATE +en tr HP:0007616 IAO:0000115 Naevus flammeus localized in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns. Naevus flammeus un boyun derisine yerleşmesi. Bu, en yaygın doğum lekelerinden biridir ve tüm yeni doğanların yaklaşık% 25'inde mevcuttur CANDIDATE en nl HP:0007616 rdfs:label Nevus flammeus nuchae Naevus flammeus nuchae CANDIDATE en fr HP:0007616 rdfs:label Nevus flammeus nuchae Naevus flammeus de la nuque OFFICIAL label of HP:0007616 (Nevus flammeus nuchae) ; abnormality of the integument en cs HP:0007616 rdfs:label Nevus flammeus nuchae Nevus flammeus nuchae OFFICIAL @@ -42549,8 +42549,8 @@ en tr HP:0007633 rdfs:label Bilateral microphthalmos Bilateral mikroftalmi OFFIC en zh HP:0007633 rdfs:label Bilateral microphthalmos 双侧小眼畸形 OFFICIAL en ja HP:0007633 rdfs:label Bilateral microphthalmos 両側性小眼球 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0007633 rdfs:label Bilateral microphthalmos Microftalmia bilateral OFFICIAL -en cs HP:0007634 IAO:0000115 An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates. Akutní stav charakterizovaný náhlou ztrátou zraku (obvykle zjištěnou ráno), edémem optického disku na počátku, defekty zorného pole souvisejícími s optickým diskem. Nearteritická přední ischemická optická neuropatie může být spojena s plamenkovitými krváceními na oteklém disku nebo blízké neuroretinální vrstvě a někdy s blízkými vatovitými exsudáty. OFFICIAL -en tr HP:0007634 IAO:0000115 An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates. Akut bir durum, ani görme kaybı (genellikle sabahları ortaya çıkar) başlangıçta optik disk ödemi, optik diske bağlı görme bozukluklarıyla karakterize edilir. Nonarteritik anterior iskemik optik nöropati, şişmiş disk üzerinde ya da yakındaki nöroretinal tabakada alev şeklinde kanamalarla ve yakınlardaki pamuklu-yün şeklindeki eksüdalarla bağlantılı olabilir CANDIDATE +en cs HP:0007634 IAO:0000115 An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disk or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates. Akutní stav charakterizovaný náhlou ztrátou zraku (obvykle zjištěnou ráno), edémem optického disku na počátku, defekty zorného pole souvisejícími s optickým diskem. Nearteritická přední ischemická optická neuropatie může být spojena s plamenkovitými krváceními na oteklém disku nebo blízké neuroretinální vrstvě a někdy s blízkými vatovitými exsudáty. CANDIDATE +en tr HP:0007634 IAO:0000115 An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disk or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates. Akut bir durum, ani görme kaybı (genellikle sabahları ortaya çıkar) başlangıçta optik disk ödemi, optik diske bağlı görme bozukluklarıyla karakterize edilir. Nonarteritik anterior iskemik optik nöropati, şişmiş disk üzerinde ya da yakındaki nöroretinal tabakada alev şeklinde kanamalarla ve yakınlardaki pamuklu-yün şeklindeki eksüdalarla bağlantılı olabilir CANDIDATE en nl HP:0007634 rdfs:label Nonarteritic anterior ischemic optic neuropathy Niet-arteritische anterieure ischemische opticusneuropathie CANDIDATE en fr HP:0007634 rdfs:label Nonarteritic anterior ischemic optic neuropathy Neuropathie optique ischémique antérieure non artéritique OFFICIAL label of HP:0007634 (Nonarteritic anterior ischemic optic neuropathy) ; abnormality of the eye en cs HP:0007634 rdfs:label Nonarteritic anterior ischemic optic neuropathy Nearteritická forma přední ischemické neuropatie OFFICIAL @@ -43157,8 +43157,8 @@ en tr HP:0007772 rdfs:label Impaired smooth pursuit Bozuk düz takip OFFICIAL en zh HP:0007772 rdfs:label Impaired smooth pursuit 平滑追视障碍 OFFICIAL en ja HP:0007772 rdfs:label Impaired smooth pursuit 滑らかな追視の障害 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0007772 rdfs:label Impaired smooth pursuit Deterioro de seguimiento lento OFFICIAL -en cs HP:0007773 IAO:0000115 Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. Oční abnormalita charakterizovaná předčasnou degenerací sklivce a sítnice, která může být spojena se zvýšeným rizikem odchlípení sítnice. OFFICIAL -en tr HP:0007773 IAO:0000115 Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. Artmış retinal dekolman riski ile ilişkili olabilen vitrözün ve retinanın prematür dejenerasyonu ile karakterize oküler anormallik OFFICIAL +en cs HP:0007773 IAO:0000115 Ocular abnormality characterized by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. Oční abnormalita charakterizovaná předčasnou degenerací sklivce a sítnice, která může být spojena se zvýšeným rizikem odchlípení sítnice. CANDIDATE +en tr HP:0007773 IAO:0000115 Ocular abnormality characterized by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. Artmış retinal dekolman riski ile ilişkili olabilen vitrözün ve retinanın prematür dejenerasyonu ile karakterize oküler anormallik CANDIDATE en nl HP:0007773 rdfs:label Vitreoretinopathy Vitreoretinopathie CANDIDATE en fr HP:0007773 rdfs:label Vitreoretinopathy Anomalies vitréorétiniennes OFFICIAL label of HP:0007773 (Vitreoretinopathy) ; abnormality of the eye en cs HP:0007773 rdfs:label Vitreoretinopathy Vitreoretinopatie OFFICIAL @@ -43693,8 +43693,8 @@ en ja HP:0007892 rdfs:label Hypoplasia of the lacrimal punctum 涙点低形成 O en es HP:0007892 rdfs:label Hypoplasia of the lacrimal punctum Hipoplasia de punto lacrimal OFFICIAL en ja HP:0007893 rdfs:label obsolete Progressive retinal degeneration 進行性網膜 変性 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0007893 rdfs:label obsolete Progressive retinal degeneration Degeneración retiniana progresiva OFFICIAL -en cs HP:0007894 IAO:0000115 Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid). Snížená pigmentace očního fundu, typicky generalizovaná. Pomocí fundoskopie můžeme odhalit nízkou hladinu pigmentu v oblasti RPE a cévnatku s dobre viditelnými choroidálními cévami (bledé/albinoidní) nebo nízkou hladinu pigmentu v oblasti RPE s hlubokým pigmentem v cévnatce, takže viditelné choroidální cévy jsou odděleny hluboce pigmentovanými zónami (teselované/tigroidní ). OFFICIAL -en tr HP:0007894 IAO:0000115 Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid). Fundusun pigmentasyonunun azalması, tipik olarak genelleştirilebilir. Fundoskopi RPE de koroid damarlarının berrak görünebilirliği ile (renksiz / albinoid) veya koroiddeki derin pigmentli RPE de düşük pigment seviyesi ile RPE de ve koroidde düşük seviyeli bir pigment ortaya çıkarabilir, böylece görünür koroid damarları derin pigmentli bölgeler (mozaik / benekli) ile ayrılır CANDIDATE +en cs HP:0007894 IAO:0000115 Reduced pigmentation of the fundus, typically generalized. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid). Snížená pigmentace očního fundu, typicky generalizovaná. Pomocí fundoskopie můžeme odhalit nízkou hladinu pigmentu v oblasti RPE a cévnatku s dobre viditelnými choroidálními cévami (bledé/albinoidní) nebo nízkou hladinu pigmentu v oblasti RPE s hlubokým pigmentem v cévnatce, takže viditelné choroidální cévy jsou odděleny hluboce pigmentovanými zónami (teselované/tigroidní ). CANDIDATE +en tr HP:0007894 IAO:0000115 Reduced pigmentation of the fundus, typically generalized. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid). Fundusun pigmentasyonunun azalması, tipik olarak genelleştirilebilir. Fundoskopi RPE de koroid damarlarının berrak görünebilirliği ile (renksiz / albinoid) veya koroiddeki derin pigmentli RPE de düşük pigment seviyesi ile RPE de ve koroidde düşük seviyeli bir pigment ortaya çıkarabilir, böylece görünür koroid damarları derin pigmentli bölgeler (mozaik / benekli) ile ayrılır CANDIDATE en nl HP:0007894 rdfs:label Hypopigmentation of the fundus Hypopigmentatie van de fundus CANDIDATE en fr HP:0007894 rdfs:label Hypopigmentation of the fundus Hypopigmentation du fond de l'oeil OFFICIAL label of HP:0007894 (Hypopigmentation of the fundus) ; abnormality of the eye en cs HP:0007894 rdfs:label Hypopigmentation of the fundus Hypopigmentace fundu OFFICIAL @@ -44019,8 +44019,8 @@ en tr HP:0007965 rdfs:label Undetectable visual evoked potentials Saptanamayan u en zh HP:0007965 rdfs:label Undetectable visual evoked potentials 视觉诱发电位无波形 OFFICIAL en ja HP:0007965 rdfs:label Undetectable visual evoked potentials 視覚誘発電位欠損 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0007965 rdfs:label Undetectable visual evoked potentials Ausencia de potenciales evocados visuales OFFICIAL -en cs HP:0007968 IAO:0000115 Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract. Perzistence hyaloidní tepny, což je embryonální tepna, která vede od disku zrakového nervu k zadnímu pouzdru čočky; místo úponu může tvořit zákal. Hyaloidní tepna je větví oftalmické tepny a obvykle zcela regreduje před narozením. Tato vlastnost je důsledkem selhání regrese hyaloidní cévy, která zásobuje primární sklivec během embryogeneze a normálně regreduje ve třetím trimestru těhotenství, což vede ke zvláštní formě zadní katarakty. OFFICIAL -en tr HP:0007968 IAO:0000115 Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract. Optik diskten arka mercek kapsülüne kadar uzanan embriyonik arter olan hiyaloid arterinin inatçılığı devam edebilir; bağlanma yeri opaklık oluşturabilir. Hiyaloid arter oftalmik arterin bir dalıdır ve genellikle doğumdan önce tamamen geriler. Bu özellikler, embriyogenez sırasında primer vitreusa neden olan ve genellikle gebeliğin üçüncü üç aylık döneminde gerileyen hiyaloid damarın gerilemesindeki başarısızlıktan kaynaklanır ve belirli bir posterior katarakt şekline neden olur CANDIDATE +en cs HP:0007968 IAO:0000115 Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract. Perzistence hyaloidní tepny, což je embryonální tepna, která vede od disku zrakového nervu k zadnímu pouzdru čočky; místo úponu může tvořit zákal. Hyaloidní tepna je větví oftalmické tepny a obvykle zcela regreduje před narozením. Tato vlastnost je důsledkem selhání regrese hyaloidní cévy, která zásobuje primární sklivec během embryogeneze a normálně regreduje ve třetím trimestru těhotenství, což vede ke zvláštní formě zadní katarakty. CANDIDATE +en tr HP:0007968 IAO:0000115 Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract. Optik diskten arka mercek kapsülüne kadar uzanan embriyonik arter olan hiyaloid arterinin inatçılığı devam edebilir; bağlanma yeri opaklık oluşturabilir. Hiyaloid arter oftalmik arterin bir dalıdır ve genellikle doğumdan önce tamamen geriler. Bu özellikler, embriyogenez sırasında primer vitreusa neden olan ve genellikle gebeliğin üçüncü üç aylık döneminde gerileyen hiyaloid damarın gerilemesindeki başarısızlıktan kaynaklanır ve belirli bir posterior katarakt şekline neden olur CANDIDATE en nl HP:0007968 rdfs:label Remnants of the hyaloid vascular system Restanten van het hyaloïd-vasculair systeem CANDIDATE en fr HP:0007968 rdfs:label Remnants of the hyaloid vascular system Vestiges du système vasculaire hyaloïde OFFICIAL label of HP:0007968 (Remnants of the hyaloid vascular system) ; abnormality of the eye en cs HP:0007968 rdfs:label Remnants of the hyaloid vascular system Pozůstatky hyaloidního cévního systému OFFICIAL @@ -46227,13 +46227,13 @@ en ja HP:0008418 rdfs:label Squared-off platyspondyly 四角い扁平脊椎 OFFI en es HP:0008418 rdfs:label Squared-off platyspondyly Platispondilia cuadrada OFFICIAL en cs HP:0008419 IAO:0000115 The presence of degenerative changes of intervertebral disk. Přítomnost degenerativních změn meziobratlové ploténky OFFICIAL en tr HP:0008419 IAO:0000115 The presence of degenerative changes of intervertebral disk. İntervertebral diskte dejeneratif değişikliklerin oluşumu CANDIDATE -en nl HP:0008419 rdfs:label Intervertebral disc degeneration Degeneratie van de tussenwervelschijf CANDIDATE -en fr HP:0008419 rdfs:label Intervertebral disc degeneration Dégénérescence des disques intervertébraux OFFICIAL label of HP:0008419 (Intervertebral disc degeneration) ; abnormality of the skeletal system -en cs HP:0008419 rdfs:label Intervertebral disc degeneration Degenerace meziobratlové ploténky OFFICIAL -en tr HP:0008419 rdfs:label Intervertebral disc degeneration İntervertebral disk dejenerasyonu OFFICIAL -en zh HP:0008419 rdfs:label Intervertebral disc degeneration 椎间盘退行性变 OFFICIAL -en ja HP:0008419 rdfs:label Intervertebral disc degeneration 椎間板変性 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT -en es HP:0008419 rdfs:label Intervertebral disc degeneration Degeneración del disco intervertebral OFFICIAL +en nl HP:0008419 rdfs:label Intervertebral disk degeneration Degeneratie van de tussenwervelschijf CANDIDATE +en fr HP:0008419 rdfs:label Intervertebral disk degeneration Dégénérescence des disques intervertébraux CANDIDATE label of HP:0008419 (Intervertebral disc degeneration) ; abnormality of the skeletal system +en cs HP:0008419 rdfs:label Intervertebral disk degeneration Degenerace meziobratlové ploténky CANDIDATE +en tr HP:0008419 rdfs:label Intervertebral disk degeneration İntervertebral disk dejenerasyonu CANDIDATE +en zh HP:0008419 rdfs:label Intervertebral disk degeneration 椎间盘退行性变 CANDIDATE +en ja HP:0008419 rdfs:label Intervertebral disk degeneration 椎間板変性 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT +en es HP:0008419 rdfs:label Intervertebral disk degeneration Degeneración del disco intervertebral CANDIDATE en cs HP:0008420 IAO:0000115 The presence of punctiform calcification of the bone of the vertebral bodies. Přítomnost bodových kalcifikací kosti obratlových těl OFFICIAL en tr HP:0008420 IAO:0000115 The presence of punctiform calcification of the bone of the vertebral bodies. Vertebral cisimlerin kemiğinin nokta biçiminde kalsifikasyonunun varlığı CANDIDATE en fr HP:0008420 rdfs:label Punctate vertebral calcifications calcifications vertébrales ponctuées OFFICIAL label of HP:0008420 (Punctate vertebral calcifications) ; abnormality of the skeletal system @@ -46734,13 +46734,13 @@ en tr HP:0008497 rdfs:label Congenital craniofacial dysostosis Konjenital kraniy en zh HP:0008497 rdfs:label Congenital craniofacial dysostosis 先天性颅面骨发育不全 OFFICIAL en ja HP:0008497 rdfs:label Congenital craniofacial dysostosis 先天性頭蓋顔面異骨症 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0008497 rdfs:label Congenital craniofacial dysostosis Disostosis craneofacial congénita OFFICIAL -en nl HP:0008498 rdfs:label No permanent dentition Geen permanente dentitie CANDIDATE -en fr HP:0008498 rdfs:label No permanent dentition Absence de dentition permanente OFFICIAL label of HP:0008498 (No permanent dentition) ; abnormality of head or neck -en cs HP:0008498 rdfs:label No permanent dentition Chybění trvalého chrupu OFFICIAL -en tr HP:0008498 rdfs:label No permanent dentition Kalıcı dişlenmenin olmaması OFFICIAL -en zh HP:0008498 rdfs:label No permanent dentition 无恒牙 OFFICIAL -en ja HP:0008498 rdfs:label No permanent dentition 永久歯完全欠損 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT -en es HP:0008498 rdfs:label No permanent dentition Ausencia de dentición permanente OFFICIAL +en nl HP:0008498 rdfs:label obsolete No permanent dentition Geen permanente dentitie CANDIDATE +en fr HP:0008498 rdfs:label obsolete No permanent dentition Absence de dentition permanente CANDIDATE label of HP:0008498 (No permanent dentition) ; abnormality of head or neck +en cs HP:0008498 rdfs:label obsolete No permanent dentition Chybění trvalého chrupu CANDIDATE +en tr HP:0008498 rdfs:label obsolete No permanent dentition Kalıcı dişlenmenin olmaması CANDIDATE +en zh HP:0008498 rdfs:label obsolete No permanent dentition 无恒牙 CANDIDATE +en ja HP:0008498 rdfs:label obsolete No permanent dentition 永久歯完全欠損 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT +en es HP:0008498 rdfs:label obsolete No permanent dentition Ausencia de dentición permanente CANDIDATE en cs HP:0008499 IAO:0000115 A severe form of hypermetropia with over +5.00 diopters. Těžká forma hypermetropie s více než +5,00 dioptrií. OFFICIAL en tr HP:0008499 IAO:0000115 A severe form of hypermetropia with over +5.00 diopters. +5.00 dioptri ile şiddetli bir hipermetrop şekli CANDIDATE en nl HP:0008499 rdfs:label High hypermetropia Hoge hypermetropie CANDIDATE @@ -46750,15 +46750,15 @@ en tr HP:0008499 rdfs:label High hypermetropia Yüksek hipermetropi OFFICIAL en zh HP:0008499 rdfs:label High hypermetropia 高度远视 OFFICIAL en ja HP:0008499 rdfs:label High hypermetropia 高度遠視 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0008499 rdfs:label High hypermetropia Hipermetropía de alto grado OFFICIAL -en cs HP:0008501 IAO:0000115 Cleft lip or palate affecting the midline region of the palate. Rozštěp rtu a patra postihující středovou oblast patra OFFICIAL -en tr HP:0008501 IAO:0000115 Cleft lip or palate affecting the midline region of the palate. Damak orta hattını etkileyen yarık dudak veya damak CANDIDATE -en nl HP:0008501 rdfs:label Median cleft lip and palate Mediaan gespleten lip en gehemelte CANDIDATE -en fr HP:0008501 rdfs:label Median cleft lip and palate Fente labiale/palatine médiane OFFICIAL label of HP:0008501 (Median cleft lip and palate) ; abnormality of head or neck -en cs HP:0008501 rdfs:label Median cleft lip and palate Středový rozštěpený rtu a patra OFFICIAL -en tr HP:0008501 rdfs:label Median cleft lip and palate Orta hat yarık dudak ve damak OFFICIAL -en zh HP:0008501 rdfs:label Median cleft lip and palate 唇腭正中裂 OFFICIAL -en ja HP:0008501 rdfs:label Median cleft lip and palate 正中口唇口蓋裂 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT -en es HP:0008501 rdfs:label Median cleft lip and palate Hendidura central de labio y paladar OFFICIAL +en cs HP:0008501 IAO:0000115 Cleft lip or palate affecting the midline region of the palate Rozštěp rtu a patra postihující středovou oblast patra OFFICIAL +en tr HP:0008501 IAO:0000115 Cleft lip or palate affecting the midline region of the palate Damak orta hattını etkileyen yarık dudak veya damak CANDIDATE +en nl HP:0008501 rdfs:label obsolete Median cleft lip and palate Mediaan gespleten lip en gehemelte CANDIDATE +en fr HP:0008501 rdfs:label obsolete Median cleft lip and palate Fente labiale/palatine médiane CANDIDATE label of HP:0008501 (Median cleft lip and palate) ; abnormality of head or neck +en cs HP:0008501 rdfs:label obsolete Median cleft lip and palate Středový rozštěpený rtu a patra CANDIDATE +en tr HP:0008501 rdfs:label obsolete Median cleft lip and palate Orta hat yarık dudak ve damak CANDIDATE +en zh HP:0008501 rdfs:label obsolete Median cleft lip and palate 唇腭正中裂 CANDIDATE +en ja HP:0008501 rdfs:label obsolete Median cleft lip and palate 正中口唇口蓋裂 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT +en es HP:0008501 rdfs:label obsolete Median cleft lip and palate Hendidura central de labio y paladar CANDIDATE en cs HP:0008504 IAO:0000115 The presence of a moderate form of sensorineural hearing impairment. Přítomnost středně těžké formy senzorineurální poruchy sluchu OFFICIAL en tr HP:0008504 IAO:0000115 The presence of a moderate form of sensorineural hearing impairment. Sensörinöral işitme bozukluğunun orta dereceli bir formunun varlığı OFFICIAL en nl HP:0008504 rdfs:label Moderate sensorineural hearing impairment Matig perceptieve slechthorendheid CANDIDATE @@ -47171,15 +47171,15 @@ en tr HP:0008633 rdfs:label Agonadism Gonadal doku yokluğu OFFICIAL en zh HP:0008633 rdfs:label Agonadism 无性腺症 OFFICIAL en ja HP:0008633 rdfs:label Agonadism 生殖組織欠損 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0008633 rdfs:label Agonadism Tejido gonadal ausente OFFICIAL -en cs HP:0008635 IAO:0000115 Abnormal enlargement of the urinary bladder. Abnormální zvětšení močového měchýře. OFFICIAL -en tr HP:0008635 IAO:0000115 Abnormal enlargement of the urinary bladder. Mesanenin anormal genişlemesi OFFICIAL -en nl HP:0008635 rdfs:label Hypertrophy of the urinary bladder Hypertrofie van de blaas CANDIDATE -en fr HP:0008635 rdfs:label Hypertrophy of the urinary bladder Hypertrophie de la vessie urinaire OFFICIAL label of HP:0008635 (Hypertrophy of the urinary bladder) ; abnormality of the genitourinary system -en cs HP:0008635 rdfs:label Hypertrophy of the urinary bladder Hypertrofie močového měchýře OFFICIAL -en tr HP:0008635 rdfs:label Hypertrophy of the urinary bladder Mesane hipertrofisi OFFICIAL -en zh HP:0008635 rdfs:label Hypertrophy of the urinary bladder 膀胱肥大 OFFICIAL -en ja HP:0008635 rdfs:label Hypertrophy of the urinary bladder 膀胱肥大 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT -en es HP:0008635 rdfs:label Hypertrophy of the urinary bladder Hipertrofia de la vejiga urinaria OFFICIAL +en cs HP:0008635 IAO:0000115 Increase in thickness of the wall of the urinary bladder. This finding may be seen in conditions such as bladder outlet obstruction and may be accompanied by increased trabeculation of the bladder wall musculature. Abnormální zvětšení močového měchýře. CANDIDATE +en tr HP:0008635 IAO:0000115 Increase in thickness of the wall of the urinary bladder. This finding may be seen in conditions such as bladder outlet obstruction and may be accompanied by increased trabeculation of the bladder wall musculature. Mesanenin anormal genişlemesi CANDIDATE +en nl HP:0008635 rdfs:label Urinary bladder wall hypertrophy Hypertrofie van de blaas CANDIDATE +en fr HP:0008635 rdfs:label Urinary bladder wall hypertrophy Hypertrophie de la vessie urinaire CANDIDATE label of HP:0008635 (Hypertrophy of the urinary bladder) ; abnormality of the genitourinary system +en cs HP:0008635 rdfs:label Urinary bladder wall hypertrophy Hypertrofie močového měchýře CANDIDATE +en tr HP:0008635 rdfs:label Urinary bladder wall hypertrophy Mesane hipertrofisi CANDIDATE +en zh HP:0008635 rdfs:label Urinary bladder wall hypertrophy 膀胱肥大 CANDIDATE +en ja HP:0008635 rdfs:label Urinary bladder wall hypertrophy 膀胱肥大 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT +en es HP:0008635 rdfs:label Urinary bladder wall hypertrophy Hipertrofia de la vejiga urinaria CANDIDATE en nl HP:0008636 rdfs:label obsolete Lobular glomerulopathy Lobulaire glomerulopathie CANDIDATE en fr HP:0008636 rdfs:label obsolete Lobular glomerulopathy Glomérulopathie lobulaire CANDIDATE label of HP:0008636 (Lobular glomerulopathy) ; abnormality of the genitourinary system en cs HP:0008636 rdfs:label obsolete Lobular glomerulopathy Lobulární glomerulopatie CANDIDATE @@ -53060,15 +53060,15 @@ en tr HP:0009594 rdfs:label Retinal hamartoma Retinal hamartom OFFICIAL en zh HP:0009594 rdfs:label Retinal hamartoma 视网膜错构瘤 OFFICIAL en ja HP:0009594 rdfs:label Retinal hamartoma 網膜過誤腫 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0009594 rdfs:label Retinal hamartoma Hamartoma de retina OFFICIAL -en cs HP:0009595 IAO:0000115 Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1. Menší počet neurofibromů než je obvyklé u neurofibromatózy typu 1 OFFICIAL -en tr HP:0009595 IAO:0000115 Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1. Nörofibromatozis tip 1'de sıklıkla gözlenenden daha az sayıda nörofibroma vardır OFFICIAL -en nl HP:0009595 rdfs:label Occasional neurofibromas Occasionele neurofibromen CANDIDATE -en fr HP:0009595 rdfs:label Occasional neurofibromas neurofibromes occasionnels OFFICIAL label of HP:0009595 (Occasional neurofibromas) ; abnormality of the nervous system ; abnormality of the integument ; neoplasm -en cs HP:0009595 rdfs:label Occasional neurofibromas Náhodné neurofibromy (mimo neurofibromatózu) OFFICIAL -en tr HP:0009595 rdfs:label Occasional neurofibromas Nadir nörofibromlar OFFICIAL -en zh HP:0009595 rdfs:label Occasional neurofibromas 偶发的神经纤维瘤 OFFICIAL -en ja HP:0009595 rdfs:label Occasional neurofibromas 時たまの神経線維腫 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT -en es HP:0009595 rdfs:label Occasional neurofibromas Neurofibromas ocasionales OFFICIAL +en cs HP:0009595 IAO:0000115 Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1 Menší počet neurofibromů než je obvyklé u neurofibromatózy typu 1 OFFICIAL +en tr HP:0009595 IAO:0000115 Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1 Nörofibromatozis tip 1'de sıklıkla gözlenenden daha az sayıda nörofibroma vardır OFFICIAL +en nl HP:0009595 rdfs:label obsolete Occasional neurofibromas Occasionele neurofibromen CANDIDATE +en fr HP:0009595 rdfs:label obsolete Occasional neurofibromas neurofibromes occasionnels CANDIDATE label of HP:0009595 (Occasional neurofibromas) ; abnormality of the nervous system ; abnormality of the integument ; neoplasm +en cs HP:0009595 rdfs:label obsolete Occasional neurofibromas Náhodné neurofibromy (mimo neurofibromatózu) CANDIDATE +en tr HP:0009595 rdfs:label obsolete Occasional neurofibromas Nadir nörofibromlar CANDIDATE +en zh HP:0009595 rdfs:label obsolete Occasional neurofibromas 偶发的神经纤维瘤 CANDIDATE +en ja HP:0009595 rdfs:label obsolete Occasional neurofibromas 時たまの神経線維腫 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT +en es HP:0009595 rdfs:label obsolete Occasional neurofibromas Neurofibromas ocasionales CANDIDATE en cs HP:0009596 IAO:0000115 Absence of the proximal phalanx of the 2nd finger. Chybění proximální falangy 2. prstu na ruce OFFICIAL en tr HP:0009596 IAO:0000115 Absence of the proximal phalanx of the 2nd finger. 2. parmağın proksimal falanksının yokluğu OFFICIAL en nl HP:0009596 rdfs:label Aplasia of the proximal phalanx of the 2nd finger Aplasie van de proximale falanx van de 2e vinger CANDIDATE @@ -54102,8 +54102,8 @@ en tr HP:0009726 rdfs:label Renal neoplasm Renal neoplazm OFFICIAL en zh HP:0009726 rdfs:label Renal neoplasm 肾肿瘤 OFFICIAL en ja HP:0009726 rdfs:label Renal neoplasm 腎新生物 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0009726 rdfs:label Renal neoplasm Neoplasia renal OFFICIAL -en cs HP:0009727 IAO:0000115 Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina. Oblasti sítnice bez pigmentace. Vypíchnuté oblasti chorioretinální hypopigmentace o velikosti menší než 1 průměr disku, které se nacházejí spíše ve střední části sítnice. OFFICIAL -en tr HP:0009727 IAO:0000115 Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina. Pigmentasyonu eksik retina sahaları. Boyut olarak 1 disk çapından daha az ve retinanın orta periferinde yer almaya meyilli delikli koryoretinal hipopigmentasyon sahaları OFFICIAL +en cs HP:0009727 IAO:0000115 Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disk diameter in size and tending to be located in the midperiphery of the retina. Oblasti sítnice bez pigmentace. Vypíchnuté oblasti chorioretinální hypopigmentace o velikosti menší než 1 průměr disku, které se nacházejí spíše ve střední části sítnice. CANDIDATE +en tr HP:0009727 IAO:0000115 Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disk diameter in size and tending to be located in the midperiphery of the retina. Pigmentasyonu eksik retina sahaları. Boyut olarak 1 disk çapından daha az ve retinanın orta periferinde yer almaya meyilli delikli koryoretinal hipopigmentasyon sahaları CANDIDATE en nl HP:0009727 rdfs:label Achromatic retinal patches Retinale achromatische spots CANDIDATE en fr HP:0009727 rdfs:label Achromatic retinal patches Taches rétiniennes achromatiques OFFICIAL label of HP:0009727 (Achromatic retinal patches) ; abnormality of the eye en cs HP:0009727 rdfs:label Achromatic retinal patches Achromatické skvrny na sítnici OFFICIAL @@ -55574,14 +55574,14 @@ en tr HP:0009921 rdfs:label Duane anomaly Duane anomalisi OFFICIAL en zh HP:0009921 rdfs:label Duane anomaly Duane 异常 OFFICIAL en ja HP:0009921 rdfs:label Duane anomaly Duane 奇形 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0009921 rdfs:label Duane anomaly Anomalía de Duane OFFICIAL -en cs HP:0009922 IAO:0000115 Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. Může přetrvávat hyaloidní tepna, což je embryonální tepna, která vede od disku zrakového nervu k zadnímu pouzdru čočky; místo úponu může tvořit zákal. Hyaloidní tepna je větví oftalmické tepny a obvykle zcela regreduje před narozením. OFFICIAL -en tr HP:0009922 IAO:0000115 Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. Şeffaf arterin kalıcılığı, buda arka mercek kapsülünün optik diskten çalıştırılan embriyonik arteri sürdürebilir; bağlılığın yeri opaklık oluşturabilir. Şeffaf arter gözle ilgili arterin dalıdır, ve genellikle doğumdan önce tamamen geri çekilir CANDIDATE -en fr HP:0009922 rdfs:label Vascular remnant arising from the disc Persistance de l'artère hyaloïde OFFICIAL label of HP:0009922 (Vascular remnant arising from the disc) ; abnormality of the eye -en cs HP:0009922 rdfs:label Vascular remnant arising from the disc Cévní zbytek vycházející z disku OFFICIAL -en tr HP:0009922 rdfs:label Vascular remnant arising from the disc Diskten köken alan vasküler kalıntı OFFICIAL -en zh HP:0009922 rdfs:label Vascular remnant arising from the disc 玻璃体动脉续存症 OFFICIAL -en ja HP:0009922 rdfs:label Vascular remnant arising from the disc 硝子体動脈遺残 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT -en es HP:0009922 rdfs:label Vascular remnant arising from the disc Persistencia de la arteria hialoidea OFFICIAL +en cs HP:0009922 IAO:0000115 Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. Může přetrvávat hyaloidní tepna, což je embryonální tepna, která vede od disku zrakového nervu k zadnímu pouzdru čočky; místo úponu může tvořit zákal. Hyaloidní tepna je větví oftalmické tepny a obvykle zcela regreduje před narozením. CANDIDATE +en tr HP:0009922 IAO:0000115 Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. Şeffaf arterin kalıcılığı, buda arka mercek kapsülünün optik diskten çalıştırılan embriyonik arteri sürdürebilir; bağlılığın yeri opaklık oluşturabilir. Şeffaf arter gözle ilgili arterin dalıdır, ve genellikle doğumdan önce tamamen geri çekilir CANDIDATE +en fr HP:0009922 rdfs:label Vascular remnant arising from the disk Persistance de l'artère hyaloïde CANDIDATE label of HP:0009922 (Vascular remnant arising from the disc) ; abnormality of the eye +en cs HP:0009922 rdfs:label Vascular remnant arising from the disk Cévní zbytek vycházející z disku CANDIDATE +en tr HP:0009922 rdfs:label Vascular remnant arising from the disk Diskten köken alan vasküler kalıntı CANDIDATE +en zh HP:0009922 rdfs:label Vascular remnant arising from the disk 玻璃体动脉续存症 CANDIDATE +en ja HP:0009922 rdfs:label Vascular remnant arising from the disk 硝子体動脈遺残 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT +en es HP:0009922 rdfs:label Vascular remnant arising from the disk Persistencia de la arteria hialoidea CANDIDATE en cs HP:0009924 IAO:0000115 Underdevelopment or absence of the nose or parts thereof. Hypoplázie nebo chybění nosu nebo jeho části OFFICIAL en tr HP:0009924 IAO:0000115 Underdevelopment or absence of the nose or parts thereof. Burnun veya dolayısı ile kısımlarının tam gelişmemesi veya yokluğu OFFICIAL en nl HP:0009924 rdfs:label Aplasia/Hypoplasia involving the nose Aplasia/Hypoplasie waarbij neus betrokken is CANDIDATE @@ -58013,8 +58013,8 @@ en tr HP:0010222 rdfs:label Abnormality of the epiphysis of the 3rd metacarpal 3 en zh HP:0010222 rdfs:label Abnormality of the epiphysis of the 3rd metacarpal 第三掌骨骨骺异常 OFFICIAL en ja HP:0010222 rdfs:label Abnormality of the epiphysis of the 3rd metacarpal 第3中手骨骨端の異常 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0010222 rdfs:label Abnormality of the epiphysis of the 3rd metacarpal Anomalía de la epífisis del tercer metacarpiano OFFICIAL -en cs HP:0010223 IAO:0000115 The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. Normální epifýza třetí metakarpální kosti je umístněná jejim distálním konci. Tento termín se použije v případě přítomnosti akcesorní epifýzy, která je umístněná na proximálním konci matakarpální kosti OFFICIAL -en tr HP:0010223 IAO:0000115 The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. Üçüncü metakarpalin normal epifizi metakarpal kemiğin distal ucunda yerleşmiştir. Bu terim eğer metakarpal kemiğin proksimal ucunda yer alan aksesuvar bir epifiz varlığında geçerlidir OFFICIAL +en cs HP:0010223 IAO:0000115 The normal epiphysis of the third metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. Normální epifýza třetí metakarpální kosti je umístněná jejim distálním konci. Tento termín se použije v případě přítomnosti akcesorní epifýzy, která je umístněná na proximálním konci matakarpální kosti CANDIDATE +en tr HP:0010223 IAO:0000115 The normal epiphysis of the third metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. Üçüncü metakarpalin normal epifizi metakarpal kemiğin distal ucunda yerleşmiştir. Bu terim eğer metakarpal kemiğin proksimal ucunda yer alan aksesuvar bir epifiz varlığında geçerlidir CANDIDATE en nl HP:0010223 rdfs:label Pseudoepiphysis of the 3rd metacarpal Pseudo-epifyse van de 3e metacarpaal CANDIDATE en fr HP:0010223 rdfs:label Pseudoepiphysis of the 3rd metacarpal Pseudo-épiphyse du 3ième métacarpien OFFICIAL label of HP:0010223 (Pseudoepiphysis of the 3rd metacarpal) ; abnormality of limbs ; abnormality of the skeletal system en cs HP:0010223 rdfs:label Pseudoepiphysis of the 3rd metacarpal Pseudoepifýza 3. metakarpální kosti OFFICIAL @@ -58031,8 +58031,8 @@ en tr HP:0010224 rdfs:label Abnormality of the epiphysis of the 4th metacarpal 4 en zh HP:0010224 rdfs:label Abnormality of the epiphysis of the 4th metacarpal 第四掌骨骨骺异常 OFFICIAL en ja HP:0010224 rdfs:label Abnormality of the epiphysis of the 4th metacarpal 第4中手骨骨端の異常 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0010224 rdfs:label Abnormality of the epiphysis of the 4th metacarpal Anomalía de la epífisis del cuarto metacarpiano OFFICIAL -en cs HP:0010225 IAO:0000115 The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. Normální epifýza čtvrté metakarpální kosti je umístněná jejim distálním konci. Tento termín se použije v případě přítomnosti akcesorní epifýzy, která je umístněná na proximálním konci matakarpální kosti OFFICIAL -en tr HP:0010225 IAO:0000115 The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. Dördüncü metakarpalin normal epifizi metakarpal kemiğin distal ucunda yerleşmiştir. Bu terim eğer metakarpal kemiğin proksimal ucunda yer alan aksesuvar bir epifiz varlığında geçerlidir OFFICIAL +en cs HP:0010225 IAO:0000115 The normal epiphysis of the fourth metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. Normální epifýza čtvrté metakarpální kosti je umístněná jejim distálním konci. Tento termín se použije v případě přítomnosti akcesorní epifýzy, která je umístněná na proximálním konci matakarpální kosti CANDIDATE +en tr HP:0010225 IAO:0000115 The normal epiphysis of the fourth metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. Dördüncü metakarpalin normal epifizi metakarpal kemiğin distal ucunda yerleşmiştir. Bu terim eğer metakarpal kemiğin proksimal ucunda yer alan aksesuvar bir epifiz varlığında geçerlidir CANDIDATE en nl HP:0010225 rdfs:label Pseudoepiphysis of the 4th metacarpal Pseudo-epifyse van de 4e metacarpaal CANDIDATE en fr HP:0010225 rdfs:label Pseudoepiphysis of the 4th metacarpal pseudo-épiphyse du 4ième métacarpien OFFICIAL label of HP:0010225 (Pseudoepiphysis of the 4th metacarpal) ; abnormality of limbs ; abnormality of the skeletal system en cs HP:0010225 rdfs:label Pseudoepiphysis of the 4th metacarpal Pseudoepifýza 4. metakarpální kosti OFFICIAL @@ -58049,8 +58049,8 @@ en tr HP:0010226 rdfs:label Abnormality of the epiphysis of the 5th metacarpal 5 en zh HP:0010226 rdfs:label Abnormality of the epiphysis of the 5th metacarpal 第五掌骨骨骺异常 OFFICIAL en ja HP:0010226 rdfs:label Abnormality of the epiphysis of the 5th metacarpal 第5中手骨骨端の異常 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0010226 rdfs:label Abnormality of the epiphysis of the 5th metacarpal Anomalía de la epífisis del quinto metacarpiano OFFICIAL -en cs HP:0010227 IAO:0000115 The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. Normální epifýza páté metakarpální kosti je umístněná jejim distálním konci. Tento termín se použije v případě přítomnosti akcesorní epifýzy, která je umístněná na proximálním konci matakarpální kosti OFFICIAL -en tr HP:0010227 IAO:0000115 The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. Beşinci metakarpalin normal epifizi metakarpal kemiğin distal ucunda yerleşmiştir. Bu terim eğer metakarpal kemiğin proksimal ucunda yer alan aksesuvar bir epifiz varlığında geçerlidir OFFICIAL +en cs HP:0010227 IAO:0000115 The normal epiphysis of the fifth metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. Normální epifýza páté metakarpální kosti je umístněná jejim distálním konci. Tento termín se použije v případě přítomnosti akcesorní epifýzy, která je umístněná na proximálním konci matakarpální kosti CANDIDATE +en tr HP:0010227 IAO:0000115 The normal epiphysis of the fifth metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. Beşinci metakarpalin normal epifizi metakarpal kemiğin distal ucunda yerleşmiştir. Bu terim eğer metakarpal kemiğin proksimal ucunda yer alan aksesuvar bir epifiz varlığında geçerlidir CANDIDATE en nl HP:0010227 rdfs:label Pseudoepiphysis of the 5th metacarpal Pseudo-epifyse van de 5e metacarpaal CANDIDATE en fr HP:0010227 rdfs:label Pseudoepiphysis of the 5th metacarpal pseudo-épiphyse du 5ième métacarpien OFFICIAL label of HP:0010227 (Pseudoepiphysis of the 5th metacarpal) ; abnormality of limbs ; abnormality of the skeletal system en cs HP:0010227 rdfs:label Pseudoepiphysis of the 5th metacarpal Pseudoepifýza 5. metakarpální kosti OFFICIAL @@ -60934,13 +60934,13 @@ en tr HP:0010585 rdfs:label Small epiphyses Küçük epifizler OFFICIAL en zh HP:0010585 rdfs:label Small epiphyses 小骨骺 OFFICIAL en ja HP:0010585 rdfs:label Small epiphyses 小さい骨端 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0010585 rdfs:label Small epiphyses Epífisis pequeñas OFFICIAL -en nl HP:0010587 rdfs:label Triangular epiphyses Driehoekige epifysen CANDIDATE -en fr HP:0010587 rdfs:label Triangular epiphyses Épiphyses triangulaires OFFICIAL label of HP:0010587 (Triangular epiphyses) ; abnormality of the skeletal system -en cs HP:0010587 rdfs:label Triangular epiphyses Trojúhleníkové epifýzy OFFICIAL -en tr HP:0010587 rdfs:label Triangular epiphyses Üçgen epifizler OFFICIAL -en zh HP:0010587 rdfs:label Triangular epiphyses 三角形骨骺 OFFICIAL -en ja HP:0010587 rdfs:label Triangular epiphyses 三角形の骨端 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT -en es HP:0010587 rdfs:label Triangular epiphyses Epífisis triangulares OFFICIAL +en nl HP:0010587 rdfs:label Triangular epiphysis Driehoekige epifysen CANDIDATE +en fr HP:0010587 rdfs:label Triangular epiphysis Épiphyses triangulaires CANDIDATE label of HP:0010587 (Triangular epiphyses) ; abnormality of the skeletal system +en cs HP:0010587 rdfs:label Triangular epiphysis Trojúhleníkové epifýzy CANDIDATE +en tr HP:0010587 rdfs:label Triangular epiphysis Üçgen epifizler CANDIDATE +en zh HP:0010587 rdfs:label Triangular epiphysis 三角形骨骺 CANDIDATE +en ja HP:0010587 rdfs:label Triangular epiphysis 三角形の骨端 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT +en es HP:0010587 rdfs:label Triangular epiphysis Epífisis triangulares CANDIDATE en cs HP:0010588 IAO:0000115 Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at each end of a long bone, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. Zástava růstu v místě epifyzární (růstové) ploténky, což je ploténka hyalinní chrupavky v metafýze na obou končích dlouhých kostí a to v dřívějším věku, než je obvyklé a v důsledu toho postižená kost přestane růst a je zkrácená. OFFICIAL en tr HP:0010588 IAO:0000115 Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at each end of a long bone, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. Her bir uzun kemiğin metafizinde epifizyal plak hiyalin kıkırdak tabakada büyüme duraksaması ve dahil olan kemiğin kısalması ile sonuçlanan normal yaştan daha erken olarak büyümenin durması OFFICIAL en nl HP:0010588 rdfs:label Premature epimetaphyseal fusion Premature epimetafysaire fusie CANDIDATE @@ -61063,8 +61063,8 @@ en tr HP:0010602 rdfs:label Type 2 muscle fiber predominance Tip 2 kas lifi bask en zh HP:0010602 rdfs:label Type 2 muscle fiber predominance 2型肌纤维占优势 OFFICIAL en ja HP:0010602 rdfs:label Type 2 muscle fiber predominance 2型筋線維有意 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0010602 rdfs:label Type 2 muscle fiber predominance Predominio de fibra muscular tipo 2 OFFICIAL -en cs HP:0010603 IAO:0000115 A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour. Bengní, jedno či vícecystický intraoseální tumor odontogenního původu, s charakteristickým lemem parakeratinizovaného dlaždicového epitelu a s potenciálem k agresivnímu, infiltrativnímu růstu. OFFICIAL -en tr HP:0010603 IAO:0000115 A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour. Selim, tekli veya çoklu kistik, odontojenik kökenli parakeratinize tabakalanmış skuamöz epitelyum ve agresif, infiltratif davranış potansiyelli kemik içi bir tümör OFFICIAL +en cs HP:0010603 IAO:0000115 A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behavior. Bengní, jedno či vícecystický intraoseální tumor odontogenního původu, s charakteristickým lemem parakeratinizovaného dlaždicového epitelu a s potenciálem k agresivnímu, infiltrativnímu růstu. CANDIDATE +en tr HP:0010603 IAO:0000115 A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behavior. Selim, tekli veya çoklu kistik, odontojenik kökenli parakeratinize tabakalanmış skuamöz epitelyum ve agresif, infiltratif davranış potansiyelli kemik içi bir tümör CANDIDATE en nl HP:0010603 rdfs:label Odontogenic keratocysts of the jaw Odontogenische keratocysten van de kaak CANDIDATE en fr HP:0010603 rdfs:label Odontogenic keratocysts of the jaw Tumeur odontogène kératokystique OFFICIAL label of HP:0010603 (Odontogenic keratocysts of the jaw) ; abnormality of head or neck ; neoplasm en cs HP:0010603 rdfs:label Odontogenic keratocysts of the jaw Odontogenní keratocysty čelisti OFFICIAL @@ -61367,13 +61367,13 @@ en ja HP:0010639 rdfs:label Elevated alkaline phosphatase of bone origin 骨由 en es HP:0010639 rdfs:label Elevated alkaline phosphatase of bone origin Fosfatasa alcalina elevada de origen óseo OFFICIAL en cs HP:0010640 IAO:0000115 Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures). Abnormalita nosní dutiny, která začína vpředu nozdry a končí vzádu choanami. OFFICIAL en tr HP:0010640 IAO:0000115 Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures). Burun boşluğu (boşluk burun deliklerini içerir ve ordan başlar ve boyunca uzanır ve koanaları ve arka burun açıklıklarını içerir) anormalliği OFFICIAL -en nl HP:0010640 rdfs:label Abnormality of the nasal cavity Afwijking van de neusholte CANDIDATE -en fr HP:0010640 rdfs:label Abnormality of the nasal cavity Anomalie de la fosse nasale OFFICIAL label of HP:0010640 (Abnormality of the nasal cavity) ; abnormality of head or neck -en cs HP:0010640 rdfs:label Abnormality of the nasal cavity Abnormalita nosní dutiny OFFICIAL -en tr HP:0010640 rdfs:label Abnormality of the nasal cavity Nazal kavite anormalliği OFFICIAL -en zh HP:0010640 rdfs:label Abnormality of the nasal cavity 鼻腔异常 OFFICIAL -en ja HP:0010640 rdfs:label Abnormality of the nasal cavity 鼻腔の異常 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT -en es HP:0010640 rdfs:label Abnormality of the nasal cavity Anomalía de la cavidad nasal OFFICIAL +en nl HP:0010640 rdfs:label Abnormal nasal cavity morphology Afwijking van de neusholte CANDIDATE +en fr HP:0010640 rdfs:label Abnormal nasal cavity morphology Anomalie de la fosse nasale CANDIDATE label of HP:0010640 (Abnormality of the nasal cavity) ; abnormality of head or neck +en cs HP:0010640 rdfs:label Abnormal nasal cavity morphology Abnormalita nosní dutiny CANDIDATE +en tr HP:0010640 rdfs:label Abnormal nasal cavity morphology Nazal kavite anormalliği CANDIDATE +en zh HP:0010640 rdfs:label Abnormal nasal cavity morphology 鼻腔异常 CANDIDATE +en ja HP:0010640 rdfs:label Abnormal nasal cavity morphology 鼻腔の異常 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT +en es HP:0010640 rdfs:label Abnormal nasal cavity morphology Anomalía de la cavidad nasal CANDIDATE en cs HP:0010641 IAO:0000115 Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae. Abnormalita středního nosního průchodu (meatus nasi medius) – prostoru mezi střední a dolní skořepou. OFFICIAL en tr HP:0010641 IAO:0000115 Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae. Burun delikleri ve koana arasını içine alan boşluk olan orta burun boşluğu anormalliği OFFICIAL en nl HP:0010641 rdfs:label Abnormality of the midnasal cavity Afwijking van de midnasale holte CANDIDATE @@ -62131,8 +62131,8 @@ en tr HP:0010732 rdfs:label Nodular changes affecting the eyelids Göz kapaklar en zh HP:0010732 rdfs:label Nodular changes affecting the eyelids 眼睑的结节样改变 OFFICIAL en ja HP:0010732 rdfs:label Nodular changes affecting the eyelids 眼瞼の結節性変化 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0010732 rdfs:label Nodular changes affecting the eyelids Cambios nodulares que afectan a los párpados OFFICIAL -en cs HP:0010733 IAO:0000115 Naevus flammeus localised in the skin of the eyelid. Nevus flammeus lokalizovaný na kůži víčka OFFICIAL -en tr HP:0010733 IAO:0000115 Naevus flammeus localised in the skin of the eyelid. Göz kapağı derisinde yer alan nevüs flammeus OFFICIAL +en cs HP:0010733 IAO:0000115 Naevus flammeus localized in the skin of the eyelid. Nevus flammeus lokalizovaný na kůži víčka CANDIDATE +en tr HP:0010733 IAO:0000115 Naevus flammeus localized in the skin of the eyelid. Göz kapağı derisinde yer alan nevüs flammeus CANDIDATE en nl HP:0010733 rdfs:label Naevus flammeus of the eyelid Naevus flammeus van het ooglid CANDIDATE en fr HP:0010733 rdfs:label Naevus flammeus of the eyelid Naevus flammeus de la paupière OFFICIAL label of HP:0010733 (Naevus flammeus of the eyelid) ; abnormality of the integument en cs HP:0010733 rdfs:label Naevus flammeus of the eyelid Nevus flammeus očního víčka OFFICIAL @@ -62866,8 +62866,8 @@ en tr HP:0010817 rdfs:label Linear nevus sebaceous Doğrusal nevüs sebaseus OFF en zh HP:0010817 rdfs:label Linear nevus sebaceous 线状皮脂腺痣 OFFICIAL en ja HP:0010817 rdfs:label Linear nevus sebaceous 線状皮脂腺母斑 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0010817 rdfs:label Linear nevus sebaceous Nevus sebáceo linear OFFICIAL -en cs HP:0010818 IAO:0000115 A generalized tonic seizure is a type of generalized motor seizure characterised by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities. Generalizovaný tonický záchvat je typ generalizovaného motorického záchvatu charakterizovaného oboustranným ztuhnutím nebo elevací končetin, často se ztuhnutím krku bez následné klonické fáze. Tonická aktivita může mít podobu trvalé abnormální polohy, a to buď v extenzi, nebo ve flexi, někdy doprovázené třesem končetin OFFICIAL -en tr HP:0010818 IAO:0000115 A generalized tonic seizure is a type of generalized motor seizure characterised by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities. Bir kaç saniyeden dakikalar içinde sonlanan kas kasılmasında uzamış artış ile olan genel nöbetler CANDIDATE +en cs HP:0010818 IAO:0000115 A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities. Generalizovaný tonický záchvat je typ generalizovaného motorického záchvatu charakterizovaného oboustranným ztuhnutím nebo elevací končetin, často se ztuhnutím krku bez následné klonické fáze. Tonická aktivita může mít podobu trvalé abnormální polohy, a to buď v extenzi, nebo ve flexi, někdy doprovázené třesem končetin CANDIDATE +en tr HP:0010818 IAO:0000115 A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities. Bir kaç saniyeden dakikalar içinde sonlanan kas kasılmasında uzamış artış ile olan genel nöbetler CANDIDATE en nl HP:0010818 rdfs:label Generalized tonic seizure Gegeneraliseerde tonische aanvallen CANDIDATE en fr HP:0010818 rdfs:label Generalized tonic seizure Crises comitiales toniques généralisées CANDIDATE label of HP:0010818 (Generalized tonic seizures) ; abnormality of the nervous system en cs HP:0010818 rdfs:label Generalized tonic seizure Generalizované tonické křeče OFFICIAL @@ -65389,13 +65389,13 @@ en ja HP:0011111 rdfs:label Abnormal immune serum protein physiology 免疫血 en es HP:0011111 rdfs:label Abnormal immune serum protein physiology Alteración de la función de proteínas séricas inmunitarias CANDIDATE en cs HP:0011112 IAO:0000115 Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells. Abnormalita hladin cytokinů v krvi, tj. abnormalita některého z neprotilátkových proteinů vytvářených zánětlivými leukocyty a některými neleukocytárními buňkami, které ovlivňují chování jiných buněk. OFFICIAL en tr HP:0011112 IAO:0000115 Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells. Kanda sitokin seviyelerinin anormalliği, yani diğer hücrelerin davranışını etkileyen, inflamatuar lökositler ve bazı lökosit olmayan hücreler tarafından yapılan antikor olmayan proteinlerin herhangi bir anormalliği OFFICIAL -en nl HP:0011112 rdfs:label Abnormality of serum cytokine level Afwijking in serum cytokine niveau CANDIDATE -en fr HP:0011112 rdfs:label Abnormality of serum cytokine level Anomalie du taux de cytokines sériques OFFICIAL label of HP:0011112 (Abnormality of serum cytokine level) ; abnormality of the immune system -en cs HP:0011112 rdfs:label Abnormality of serum cytokine level Abnormalita hladiny sérových cytokinů OFFICIAL -en tr HP:0011112 rdfs:label Abnormality of serum cytokine level Serum sitokin düzeyi anormalliği OFFICIAL -en zh HP:0011112 rdfs:label Abnormality of serum cytokine level 血清细胞因子水平异常 OFFICIAL -en ja HP:0011112 rdfs:label Abnormality of serum cytokine level 血清サイトカイン値の異常 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT -en es HP:0011112 rdfs:label Abnormality of serum cytokine level Alteración del nivel de citoquinas en suero OFFICIAL +en nl HP:0011112 rdfs:label Abnormal circulating cytokine concentration Afwijking in serum cytokine niveau CANDIDATE +en fr HP:0011112 rdfs:label Abnormal circulating cytokine concentration Anomalie du taux de cytokines sériques CANDIDATE label of HP:0011112 (Abnormality of serum cytokine level) ; abnormality of the immune system +en cs HP:0011112 rdfs:label Abnormal circulating cytokine concentration Abnormalita hladiny sérových cytokinů CANDIDATE +en tr HP:0011112 rdfs:label Abnormal circulating cytokine concentration Serum sitokin düzeyi anormalliği CANDIDATE +en zh HP:0011112 rdfs:label Abnormal circulating cytokine concentration 血清细胞因子水平异常 CANDIDATE +en ja HP:0011112 rdfs:label Abnormal circulating cytokine concentration 血清サイトカイン値の異常 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT +en es HP:0011112 rdfs:label Abnormal circulating cytokine concentration Alteración del nivel de citoquinas en suero CANDIDATE en cs HP:0011113 IAO:0000115 An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells). Abnormální produkce nebo uvolňování cytokinu (tj. některého z proteinů, které nejsou protilátkami a které jsou tvořeny zánětlivými leukocyty a některými neleukocytárními buňkami a ovlivňují chování jiných buněk) OFFICIAL en tr HP:0011113 IAO:0000115 An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells). Bir sitokinin (yani, diğer hücrelerin davranışını etkileyen, inflamatuar lökositler ve bazı lökosit olmayan hücreler tarafından yapılan antikor olmayan proteinler) üretiminde veya hücresel salınımında bir anormallik OFFICIAL en nl HP:0011113 rdfs:label Abnormality of cytokine secretion Afwijking van cytokine secretie CANDIDATE @@ -65416,31 +65416,31 @@ en ja HP:0011114 rdfs:label Defective production of NFKB1-dependent cytokines NF en es HP:0011114 rdfs:label Defective production of NFKB1-dependent cytokines Producción anómala de citoquinas NFKB1 dependientes OFFICIAL en cs HP:0011115 IAO:0000115 An abnormality in the production or cellular release of a chemokine (a class of cytokines). Abnormální produkce nebo uvolňování chemokinu (skupina cytokinů) v buňkách OFFICIAL en tr HP:0011115 IAO:0000115 An abnormality in the production or cellular release of a chemokine (a class of cytokines). Bir kemokinin (bir sitokin sınıfı) üretiminde veya hücresel salınımında bir anormallik OFFICIAL -en nl HP:0011115 rdfs:label Abnormality of chemokine secretion Afwijking van chemokine secretie CANDIDATE -en fr HP:0011115 rdfs:label Abnormality of chemokine secretion Anomalie de sécrétion des chémokines OFFICIAL label of HP:0011115 (Abnormality of chemokine secretion) ; abnormality of the immune system -en cs HP:0011115 rdfs:label Abnormality of chemokine secretion Abnormalita v sekreci chemokinu OFFICIAL -en tr HP:0011115 rdfs:label Abnormality of chemokine secretion Kemokin salınımı anormalliği OFFICIAL -en zh HP:0011115 rdfs:label Abnormality of chemokine secretion 趋化因子分泌异常 OFFICIAL -en ja HP:0011115 rdfs:label Abnormality of chemokine secretion ケモカイン分泌の異常 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT -en es HP:0011115 rdfs:label Abnormality of chemokine secretion Alteración de la secreción de quimioquinas OFFICIAL -en cs HP:0011116 IAO:0000115 An abnormality in the production or cellular release of interferons (a class of cytokines). Abnormální produkce nebo uvolňování interferonů (skupina cytokinů) v buňkách OFFICIAL -en tr HP:0011116 IAO:0000115 An abnormality in the production or cellular release of interferons (a class of cytokines). İnterferonların (bir sitokin sınıfı) üretiminde veya hücresel salınımında bir anormallik OFFICIAL -en nl HP:0011116 rdfs:label Abnormality of interferon secretion Afwijking van interferon secretie CANDIDATE -en fr HP:0011116 rdfs:label Abnormality of interferon secretion Anomalie de sécrétion des interférons OFFICIAL label of HP:0011116 (Abnormality of interferon secretion) ; abnormality of the immune system -en cs HP:0011116 rdfs:label Abnormality of interferon secretion Abnormalita v sekreci interferonu OFFICIAL -en tr HP:0011116 rdfs:label Abnormality of interferon secretion İnterferon salınımı anormalliği OFFICIAL -en zh HP:0011116 rdfs:label Abnormality of interferon secretion 干扰素分泌异常 OFFICIAL -en ja HP:0011116 rdfs:label Abnormality of interferon secretion インターフェロン分泌の異常 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT -en es HP:0011116 rdfs:label Abnormality of interferon secretion Alteración de la secreción de interferón OFFICIAL -en cs HP:0011117 IAO:0000115 An abnormality in the production or cellular release of interleukins (a class of cytokines). Abnormální produkce nebo uvolňování interleukinů (skupina cytokinů) v buňkách OFFICIAL -en tr HP:0011117 IAO:0000115 An abnormality in the production or cellular release of interleukins (a class of cytokines). İnterlökinlerin (bir sitokin sınıfı) üretiminde veya hücresel salınımında anormallik OFFICIAL -en nl HP:0011117 rdfs:label Abnormality of interleukin secretion Afwijking van interleukine secretie CANDIDATE -en fr HP:0011117 rdfs:label Abnormality of interleukin secretion Anomalie de sécrétion des interleukines OFFICIAL label of HP:0011117 (Abnormality of interleukin secretion) ; abnormality of the immune system -en cs HP:0011117 rdfs:label Abnormality of interleukin secretion Abnormalita sekrece interleukinu OFFICIAL -en tr HP:0011117 rdfs:label Abnormality of interleukin secretion İnterlökin salınımı anormalliği OFFICIAL -en zh HP:0011117 rdfs:label Abnormality of interleukin secretion 白介素分泌异常 OFFICIAL -en ja HP:0011117 rdfs:label Abnormality of interleukin secretion インターロイキン分泌の異常 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT -en es HP:0011117 rdfs:label Abnormality of interleukin secretion Alteración de la secreción de interleuquina OFFICIAL +en nl HP:0011115 rdfs:label Abnormal circulating chemokine concentration Afwijking van chemokine secretie CANDIDATE +en fr HP:0011115 rdfs:label Abnormal circulating chemokine concentration Anomalie de sécrétion des chémokines CANDIDATE label of HP:0011115 (Abnormality of chemokine secretion) ; abnormality of the immune system +en cs HP:0011115 rdfs:label Abnormal circulating chemokine concentration Abnormalita v sekreci chemokinu CANDIDATE +en tr HP:0011115 rdfs:label Abnormal circulating chemokine concentration Kemokin salınımı anormalliği CANDIDATE +en zh HP:0011115 rdfs:label Abnormal circulating chemokine concentration 趋化因子分泌异常 CANDIDATE +en ja HP:0011115 rdfs:label Abnormal circulating chemokine concentration ケモカイン分泌の異常 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT +en es HP:0011115 rdfs:label Abnormal circulating chemokine concentration Alteración de la secreción de quimioquinas CANDIDATE +en cs HP:0011116 IAO:0000115 The concentration of an interferon is outside the limits of normal. Abnormální produkce nebo uvolňování interferonů (skupina cytokinů) v buňkách CANDIDATE +en tr HP:0011116 IAO:0000115 The concentration of an interferon is outside the limits of normal. İnterferonların (bir sitokin sınıfı) üretiminde veya hücresel salınımında bir anormallik CANDIDATE +en nl HP:0011116 rdfs:label Abnormal circulating interferon concentration Afwijking van interferon secretie CANDIDATE +en fr HP:0011116 rdfs:label Abnormal circulating interferon concentration Anomalie de sécrétion des interférons CANDIDATE label of HP:0011116 (Abnormality of interferon secretion) ; abnormality of the immune system +en cs HP:0011116 rdfs:label Abnormal circulating interferon concentration Abnormalita v sekreci interferonu CANDIDATE +en tr HP:0011116 rdfs:label Abnormal circulating interferon concentration İnterferon salınımı anormalliği CANDIDATE +en zh HP:0011116 rdfs:label Abnormal circulating interferon concentration 干扰素分泌异常 CANDIDATE +en ja HP:0011116 rdfs:label Abnormal circulating interferon concentration インターフェロン分泌の異常 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT +en es HP:0011116 rdfs:label Abnormal circulating interferon concentration Alteración de la secreción de interferón CANDIDATE +en cs HP:0011117 IAO:0000115 The concentration of an interleukin (a class of cytokines) is outside the limits of normal. Abnormální produkce nebo uvolňování interleukinů (skupina cytokinů) v buňkách CANDIDATE +en tr HP:0011117 IAO:0000115 The concentration of an interleukin (a class of cytokines) is outside the limits of normal. İnterlökinlerin (bir sitokin sınıfı) üretiminde veya hücresel salınımında anormallik CANDIDATE +en nl HP:0011117 rdfs:label Abnormal circulating interleukin concentration Afwijking van interleukine secretie CANDIDATE +en fr HP:0011117 rdfs:label Abnormal circulating interleukin concentration Anomalie de sécrétion des interleukines CANDIDATE label of HP:0011117 (Abnormality of interleukin secretion) ; abnormality of the immune system +en cs HP:0011117 rdfs:label Abnormal circulating interleukin concentration Abnormalita sekrece interleukinu CANDIDATE +en tr HP:0011117 rdfs:label Abnormal circulating interleukin concentration İnterlökin salınımı anormalliği CANDIDATE +en zh HP:0011117 rdfs:label Abnormal circulating interleukin concentration 白介素分泌异常 CANDIDATE +en ja HP:0011117 rdfs:label Abnormal circulating interleukin concentration インターロイキン分泌の異常 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT +en es HP:0011117 rdfs:label Abnormal circulating interleukin concentration Alteración de la secreción de interleuquina CANDIDATE en cs HP:0011118 IAO:0000115 An abnormality in the production or cellular release of tumor necrosis factor. Abnormální produkce nebo uvolňování TNF v buňkách OFFICIAL en tr HP:0011118 IAO:0000115 An abnormality in the production or cellular release of tumor necrosis factor. Tümör nekroz faktörün üretiminde veya hücresel salınımında bir anormallik OFFICIAL en nl HP:0011118 rdfs:label Abnormality of tumor necrosis factor secretion Afwijking van tumor necrose factor secretie CANDIDATE @@ -65694,13 +65694,13 @@ en tr HP:0011145 rdfs:label Symptomatic seizures Semptomatik nöbetler OFFICIAL en zh HP:0011145 rdfs:label Symptomatic seizures 症状性癫痫发作 OFFICIAL en ja HP:0011145 rdfs:label Symptomatic seizures 症候性けいれん OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0011145 rdfs:label Symptomatic seizures Convulsiones sintomáticas OFFICIAL -en cs HP:0011146 IAO:0000115 A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event. Dialeptický záchvat je typ záchvatu charakterizovaný převážně sníženou reaktivitou nebo poruchou vědomí s následnou alespoň částečnou amnézií na událost. CANDIDATE +en cs HP:0011146 IAO:0000115 A dialeptic seizure is a type of seizure characterized predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event. Dialeptický záchvat je typ záchvatu charakterizovaný převážně sníženou reaktivitou nebo poruchou vědomí s následnou alespoň částečnou amnézií na událost. CANDIDATE en cs HP:0011146 rdfs:label Dialeptic seizure Dialeptické záchvaty OFFICIAL en zh HP:0011146 rdfs:label Dialeptic seizure 愣神发作 OFFICIAL en ja HP:0011146 rdfs:label Dialeptic seizure 無意識発作 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0011146 rdfs:label Dialeptic seizure Crisis convulsivas dialépticas CANDIDATE -en cs HP:0011147 IAO:0000115 A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event. Fokální motorické záchvaty CANDIDATE -en tr HP:0011147 IAO:0000115 A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event. Tipik absanslar ani başlangıçlı ve ani bitişli bilinç bozukluğunun saniyeler kadar kısa sürdüğü generalize epileptik nöbetlerdir CANDIDATE +en cs HP:0011147 IAO:0000115 A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event. Fokální motorické záchvaty CANDIDATE +en tr HP:0011147 IAO:0000115 A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event. Tipik absanslar ani başlangıçlı ve ani bitişli bilinç bozukluğunun saniyeler kadar kısa sürdüğü generalize epileptik nöbetlerdir CANDIDATE en nl HP:0011147 rdfs:label Typical absence seizure Typische absence aanvallen CANDIDATE en fr HP:0011147 rdfs:label Typical absence seizure Petit mal épileptique typique OFFICIAL label of HP:0011147 (Typical absence seizure) ; abnormality of the nervous system en cs HP:0011147 rdfs:label Typical absence seizure Typické absence OFFICIAL @@ -65710,8 +65710,8 @@ en ja HP:0011147 rdfs:label Typical absence seizure 典型的欠伸発作 OFFICI en es HP:0011147 rdfs:label Typical absence seizure Crisis de ausencia típicas OFFICIAL en ja HP:0011148 rdfs:label obsolete Absence seizures with special features 特別な特徴をもつ欠神発作 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0011148 rdfs:label obsolete Absence seizures with special features Crisis de ausencia con otras características especiales OFFICIAL -en cs HP:0011149 IAO:0000115 An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterised by forced upward jerking of the eyelids during an absence seizure. Absenční záchvaty doprovázené krátkými, opakujícími se, často rytmickými, rychlými (4-6 Hz) myoklonickými záškuby očních víček se současným vychýlením očních bulbů nahoru a extenzí hlavy. Záchvaty jsou obvykle velmi krátké (trvání méně než 6 sekund) a vícenásobné záchvaty se vyskytují denně. Vědomí je většinou zachováno. CANDIDATE -en tr HP:0011149 IAO:0000115 An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterised by forced upward jerking of the eyelids during an absence seizure. Ek olarak göz kapağı myoklonisi ile karakterize absans nöbetleri CANDIDATE +en cs HP:0011149 IAO:0000115 An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterized by forced upward jerking of the eyelids during an absence seizure. Absenční záchvaty doprovázené krátkými, opakujícími se, často rytmickými, rychlými (4-6 Hz) myoklonickými záškuby očních víček se současným vychýlením očních bulbů nahoru a extenzí hlavy. Záchvaty jsou obvykle velmi krátké (trvání méně než 6 sekund) a vícenásobné záchvaty se vyskytují denně. Vědomí je většinou zachováno. CANDIDATE +en tr HP:0011149 IAO:0000115 An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterized by forced upward jerking of the eyelids during an absence seizure. Ek olarak göz kapağı myoklonisi ile karakterize absans nöbetleri CANDIDATE en nl HP:0011149 rdfs:label Absence seizure with eyelid myoclonia Absence met ooglid myoclonie CANDIDATE en fr HP:0011149 rdfs:label Absence seizure with eyelid myoclonia Absences épileptiques avec myoclonie des paupières OFFICIAL label of HP:0011149 (Absence seizure with eyelid myoclonia) ; abnormality of the nervous system en cs HP:0011149 rdfs:label Absence seizure with eyelid myoclonia Absence s myokloniemi víček OFFICIAL @@ -65719,8 +65719,8 @@ en tr HP:0011149 rdfs:label Absence seizure with eyelid myoclonia Göz kapağı en zh HP:0011149 rdfs:label Absence seizure with eyelid myoclonia 失神发作伴眼睑肌阵挛 OFFICIAL en ja HP:0011149 rdfs:label Absence seizure with eyelid myoclonia 眼瞼ミオクローヌスを伴う欠神発作 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0011149 rdfs:label Absence seizure with eyelid myoclonia Crisis de ausencia con mioclonías del párpado OFFICIAL -en cs HP:0011150 IAO:0000115 Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterised by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017. Rytmické myoklonické záškuby ramen a paží s tonickou abdukcí, které vedou k postupnému zvedání paží během záchvatu. Myoklonické záškuby jsou typicky oboustranné, ale mohou být i jednostranné nebo asymetrické. Periorální myoklonie a rytmické záškuby hlavy se mohou rovněž objevit. Křeče trvají 10-60 a typicky se objevují denně (ve dne?). Křeče doprovází porucha pozornosti různé závažnosti od kompletní ztráty po zachovanou pozornost CANDIDATE -en tr HP:0011150 IAO:0000115 Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterised by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017. Kolların ve omuzların EEG boşalımları ile senkronize olduğu, kolların ek tonik bileşenleri ile olan ek olarak ritmik bilateral myoklonus ile karakterize olan absans nöbetleri CANDIDATE +en cs HP:0011150 IAO:0000115 Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterized by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017. Rytmické myoklonické záškuby ramen a paží s tonickou abdukcí, které vedou k postupnému zvedání paží během záchvatu. Myoklonické záškuby jsou typicky oboustranné, ale mohou být i jednostranné nebo asymetrické. Periorální myoklonie a rytmické záškuby hlavy se mohou rovněž objevit. Křeče trvají 10-60 a typicky se objevují denně (ve dne?). Křeče doprovází porucha pozornosti různé závažnosti od kompletní ztráty po zachovanou pozornost CANDIDATE +en tr HP:0011150 IAO:0000115 Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterized by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017. Kolların ve omuzların EEG boşalımları ile senkronize olduğu, kolların ek tonik bileşenleri ile olan ek olarak ritmik bilateral myoklonus ile karakterize olan absans nöbetleri CANDIDATE en nl HP:0011150 rdfs:label Myoclonic absence seizure Myoclonische absences CANDIDATE en fr HP:0011150 rdfs:label Myoclonic absence seizure Absences myocloniques CANDIDATE label of HP:0011150 (Myoclonic absence) ; abnormality of the nervous system en cs HP:0011150 rdfs:label Myoclonic absence seizure Myoclonické absence CANDIDATE @@ -65788,8 +65788,8 @@ en tr HP:0011158 rdfs:label Focal sensory seizure with auditory features İşits en zh HP:0011158 rdfs:label Focal sensory seizure with auditory features 伴有听觉特征的局灶性感觉发作 OFFICIAL en ja HP:0011158 rdfs:label Focal sensory seizure with auditory features 聴覚前兆 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0011158 rdfs:label Focal sensory seizure with auditory features Auras auditivas CANDIDATE -en cs HP:0011159 IAO:0000115 A type of focal autonomic seizure characterised by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature. Aury s břišním diskomfortem včetně evolnosti, pocitu prázdnoty, těsnosti, kručení, motýlů v břiše, malátnosti, bolesti a hladu, pocit se může propagovat do hrudníku nebo hrdla. Některé jevy mohou odrážet iktální autonomní dysfunkci CANDIDATE -en tr HP:0011159 IAO:0000115 A type of focal autonomic seizure characterised by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature. Bulantı, boşluk, sıkılık, çalkalama, kelebekler, bitkinlik, ağrı ve açlık dahil hissin göğüse veya boğaza yükselebildiği abdominal rahatsızlık ile olan auralar. Bazı fenomenler iktal otonomik disfonksiyonu yansıtabilir CANDIDATE +en cs HP:0011159 IAO:0000115 A type of focal autonomic seizure characterized by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature. Aury s břišním diskomfortem včetně evolnosti, pocitu prázdnoty, těsnosti, kručení, motýlů v břiše, malátnosti, bolesti a hladu, pocit se může propagovat do hrudníku nebo hrdla. Některé jevy mohou odrážet iktální autonomní dysfunkci CANDIDATE +en tr HP:0011159 IAO:0000115 A type of focal autonomic seizure characterized by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature. Bulantı, boşluk, sıkılık, çalkalama, kelebekler, bitkinlik, ağrı ve açlık dahil hissin göğüse veya boğaza yükselebildiği abdominal rahatsızlık ile olan auralar. Bazı fenomenler iktal otonomik disfonksiyonu yansıtabilir CANDIDATE en nl HP:0011159 rdfs:label Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena Epigastrische auras CANDIDATE en fr HP:0011159 rdfs:label Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena Auras épigastriques CANDIDATE label of HP:0011159 (Epigastric auras) ; abnormality of the nervous system en cs HP:0011159 rdfs:label Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena Epigastrické aury CANDIDATE @@ -65830,8 +65830,8 @@ en es HP:0011163 rdfs:label Focal sensory seizure with somatosensory features Au en fr HP:0011164 rdfs:label obsolete Vegetative auras Auras végétatives CANDIDATE label of HP:0011164 (Vegetative auras) ; abnormality of the nervous system en ja HP:0011164 rdfs:label obsolete Vegetative auras 自律神経栄前兆 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0011164 rdfs:label obsolete Vegetative auras Auras vegetativas CANDIDATE -en cs HP:0011165 IAO:0000115 A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation. Aury s pocitem blikání nebo blikajících světel, skvrn, jednoduchých vzorů, skotomů nebo amaurózy CANDIDATE -en tr HP:0011165 IAO:0000115 A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation. Işık çakması veya parlaması, noktalar, basit paternler, skotoma veya amorozis hisli auralar CANDIDATE +en cs HP:0011165 IAO:0000115 A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation. Aury s pocitem blikání nebo blikajících světel, skvrn, jednoduchých vzorů, skotomů nebo amaurózy CANDIDATE +en tr HP:0011165 IAO:0000115 A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation. Işık çakması veya parlaması, noktalar, basit paternler, skotoma veya amorozis hisli auralar CANDIDATE en nl HP:0011165 rdfs:label Focal sensory seizure with visual features Visuele auras CANDIDATE en fr HP:0011165 rdfs:label Focal sensory seizure with visual features Auras visuelles CANDIDATE label of HP:0011165 (Visual auras) ; abnormality of the nervous system en cs HP:0011165 rdfs:label Focal sensory seizure with visual features Vizuální aura CANDIDATE @@ -65865,8 +65865,8 @@ en tr HP:0011168 rdfs:label Focal seizure with eyelid myoclonia Göz kapağı my en zh HP:0011168 rdfs:label Focal seizure with eyelid myoclonia 局灶性癫痫伴眼睑肌阵挛 OFFICIAL en ja HP:0011168 rdfs:label Focal seizure with eyelid myoclonia 眼瞼ミオクローヌス OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0011168 rdfs:label Focal seizure with eyelid myoclonia Mioclonías en los párpados CANDIDATE -en cs HP:0011169 IAO:0000115 Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups. Záchvaty s pravidelně se opakujícím myoklonusem, zahrnujícím stejné svalové skupiny, s frekvencí asi 2-3 c/sec. CANDIDATE -en tr HP:0011169 IAO:0000115 Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups. 2-3 döngü/saniye frekansta aynı kas gruplarını içeren düzenli tekrar eden myoklonuslu nöbetler CANDIDATE +en cs HP:0011169 IAO:0000115 Generalized clonic seizure is a type of generalized motor seizure characterized by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups. Záchvaty s pravidelně se opakujícím myoklonusem, zahrnujícím stejné svalové skupiny, s frekvencí asi 2-3 c/sec. CANDIDATE +en tr HP:0011169 IAO:0000115 Generalized clonic seizure is a type of generalized motor seizure characterized by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups. 2-3 döngü/saniye frekansta aynı kas gruplarını içeren düzenli tekrar eden myoklonuslu nöbetler CANDIDATE en nl HP:0011169 rdfs:label Generalized clonic seizure Gegeneraliseerde clonische aanvallen CANDIDATE en fr HP:0011169 rdfs:label Generalized clonic seizure convulsions chroniques généralisées CANDIDATE label of HP:0011169 (Generalized clonic seizures) ; abnormality of the nervous system en cs HP:0011169 rdfs:label Generalized clonic seizure Generalizované klonické křeče OFFICIAL @@ -65919,8 +65919,8 @@ en tr HP:0011174 rdfs:label Focal hyperkinetic seizure Hiperkinetik nöbetler CA en zh HP:0011174 rdfs:label Focal hyperkinetic seizure 局灶性过度运动发作 OFFICIAL en ja HP:0011174 rdfs:label Focal hyperkinetic seizure 多動発作 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0011174 rdfs:label Focal hyperkinetic seizure Convulsiones hiperquinéticas CANDIDATE -en cs HP:0011175 IAO:0000115 A type of focal motor seizure characterised by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation. Tonické záchvaty s trvalou, nuceně konjugovanou rotací oka, hlavy a/nebo trupu nebo laterální odchylkou od střední linie. CANDIDATE -en tr HP:0011175 IAO:0000115 A type of focal motor seizure characterised by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation. Uzamış, zorlanmış konjuge oküler, sefalik ve/veya trunkal rotasyon veya orta hattan lateral deviasyon ile olan tonik nöbetler CANDIDATE +en cs HP:0011175 IAO:0000115 A type of focal motor seizure characterized by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation. Tonické záchvaty s trvalou, nuceně konjugovanou rotací oka, hlavy a/nebo trupu nebo laterální odchylkou od střední linie. CANDIDATE +en tr HP:0011175 IAO:0000115 A type of focal motor seizure characterized by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation. Uzamış, zorlanmış konjuge oküler, sefalik ve/veya trunkal rotasyon veya orta hattan lateral deviasyon ile olan tonik nöbetler CANDIDATE en nl HP:0011175 rdfs:label Focal motor seizure with version Versieve aanvallen CANDIDATE en fr HP:0011175 rdfs:label Focal motor seizure with version Crises versives CANDIDATE label of HP:0011175 (Versive seizures) ; abnormality of the nervous system en cs HP:0011175 rdfs:label Focal motor seizure with version Verzivní křeče CANDIDATE @@ -67518,8 +67518,8 @@ en tr HP:0011358 rdfs:label Generalized hypopigmentation of hair Genel kıl hipo en zh HP:0011358 rdfs:label Generalized hypopigmentation of hair 泛发性毛发色素减退 OFFICIAL en ja HP:0011358 rdfs:label Generalized hypopigmentation of hair 全身性毛髪低色素 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0011358 rdfs:label Generalized hypopigmentation of hair Hipopigmentación generalizada de pelo OFFICIAL -en cs HP:0011359 IAO:0000115 Hair that lacks the lustre (shine or gleam) of normal hair. Vlasy, které postrádají lesk normálních vlasů. OFFICIAL -en tr HP:0011359 IAO:0000115 Hair that lacks the lustre (shine or gleam) of normal hair. Normal saç parıltısı (parlaklık veya ışıltı) eksik olan saç OFFICIAL +en cs HP:0011359 IAO:0000115 Hair that lacks the luster (shine or gleam) of normal hair. Vlasy, které postrádají lesk normálních vlasů. CANDIDATE +en tr HP:0011359 IAO:0000115 Hair that lacks the luster (shine or gleam) of normal hair. Normal saç parıltısı (parlaklık veya ışıltı) eksik olan saç CANDIDATE en nl HP:0011359 rdfs:label Dry hair Droog haar CANDIDATE en fr HP:0011359 rdfs:label Dry hair Cheveux secs OFFICIAL label of HP:0011359 (Dry hair) ; abnormality of the integument en cs HP:0011359 rdfs:label Dry hair Suché vlasy OFFICIAL @@ -67965,8 +67965,8 @@ en tr HP:0011411 rdfs:label Forceps delivery Forseps doğum OFFICIAL en zh HP:0011411 rdfs:label Forceps delivery 产钳助产 OFFICIAL en ja HP:0011411 rdfs:label Forceps delivery 鉗子分娩 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0011411 rdfs:label Forceps delivery Parto con fórceps OFFICIAL -en cs HP:0011412 IAO:0000115 Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately. Porod novorozence pomocí vakuové pumpy, která se používá k asistovanému porodu v případě, že druhá doba porodní dostatečně nepostupuje. OFFICIAL -en tr HP:0011412 IAO:0000115 Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately. Doğumun ikinci evresi uygun şekilde ilerlemediği zaman doğumu asiste etmek için kullanılan bir vakum cihazı olan vantuz aracılığı ile yenidoğanın doğumu OFFICIAL +en cs HP:0011412 IAO:0000115 Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labor has not progressed adequately. Porod novorozence pomocí vakuové pumpy, která se používá k asistovanému porodu v případě, že druhá doba porodní dostatečně nepostupuje. CANDIDATE +en tr HP:0011412 IAO:0000115 Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labor has not progressed adequately. Doğumun ikinci evresi uygun şekilde ilerlemediği zaman doğumu asiste etmek için kullanılan bir vakum cihazı olan vantuz aracılığı ile yenidoğanın doğumu CANDIDATE en nl HP:0011412 rdfs:label Ventouse delivery Vacuümextractie CANDIDATE en fr HP:0011412 rdfs:label Ventouse delivery Accouchement par ventouse OFFICIAL label of HP:0011412 (Ventouse delivery) ; abnormality of prenatal development or birth en cs HP:0011412 rdfs:label Ventouse delivery Porod vakuovou pumpou OFFICIAL @@ -72086,8 +72086,8 @@ en tr HP:0011890 rdfs:label Prolonged bleeding following procedure Prosedür son en zh HP:0011890 rdfs:label Prolonged bleeding following procedure 术后出血时间延长 OFFICIAL en ja HP:0011890 rdfs:label Prolonged bleeding following procedure 処置に続く遷延性出 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0011890 rdfs:label Prolonged bleeding following procedure Sangrado prolongado tras un procedimiento OFFICIAL -en cs HP:0011891 IAO:0000115 Significant maternal haemorrhage/blood loss following deilvery of a child. Významné krvácení či krevní ztárta u matky po porodu OFFICIAL -en tr HP:0011891 IAO:0000115 Significant maternal haemorrhage/blood loss following deilvery of a child. Doğumu takiben önemli maternal hemoraji/kan kaybı OFFICIAL +en cs HP:0011891 IAO:0000115 Significant maternal hemorrhage/blood loss following deilvery of a child. Významné krvácení či krevní ztárta u matky po porodu CANDIDATE +en tr HP:0011891 IAO:0000115 Significant maternal hemorrhage/blood loss following deilvery of a child. Doğumu takiben önemli maternal hemoraji/kan kaybı CANDIDATE en nl HP:0011891 rdfs:label Post-partum hemorrhage Post-partum bloeding CANDIDATE en fr HP:0011891 rdfs:label Post-partum hemorrhage Hémorragie du postpartum OFFICIAL label of HP:0011891 (Post-partum hemorrhage) ; abnormality of blood and blood-forming tissues en cs HP:0011891 rdfs:label Post-partum hemorrhage Poporodní krvácení OFFICIAL @@ -72657,8 +72657,8 @@ en tr HP:0011955 rdfs:label Hepatic granulomatosis Hepatik granülomatozis OFFIC en zh HP:0011955 rdfs:label Hepatic granulomatosis 肝肉芽肿 OFFICIAL en ja HP:0011955 rdfs:label Hepatic granulomatosis 肝肉芽腫症 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0011955 rdfs:label Hepatic granulomatosis Granulomatosis hepática OFFICIAL -en cs HP:0011956 IAO:0000115 A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine. Lymfoproliferativní abnormalita střeva charakterizovaná četnými viditelnými slizničními uzlíky o průměru do 0,5 cm a zřídka přesahujícími tento průměr. Histologicky jsou v lamina propria a povrchové submukóze patrné hyperplastické lymfoidní folikuly s velkými zárodečnými centry. Dochází ke zvětšení slizničních B-buněčných folikulů způsobenému hyperplázií folikulárních center. Jsou obklopeny normálně vypadající plášťovou zónou. Onemocnění může postihnout žaludek, celé tenké střevo a tlusté střevo. OFFICIAL -en tr HP:0011956 IAO:0000115 A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine. Bağırsağın lenfoproliferatif anormalliği, nadiren çapı 0.5 cm'yi aşan çok sayıda görünür mukozal nodül ile karakterizedir Histolojik olarak, büyük germinal merkezli hiperplastik lenfoid folliküller, lamina propriada yüzeyel submukozada görülür. Folikül merkezlerinin hiperplazisi nedeniyle mukozal B hücreli folliküllerin genişlemesi söz konusudur; normal görünen bir manto bölgesi ile çevrili. Hastalık, mideyi, tüm ince bağırsakları ve kalın bağırsağı etkileyebilir CANDIDATE +en cs HP:0011956 IAO:0000115 A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centers are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centers; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine. Lymfoproliferativní abnormalita střeva charakterizovaná četnými viditelnými slizničními uzlíky o průměru do 0,5 cm a zřídka přesahujícími tento průměr. Histologicky jsou v lamina propria a povrchové submukóze patrné hyperplastické lymfoidní folikuly s velkými zárodečnými centry. Dochází ke zvětšení slizničních B-buněčných folikulů způsobenému hyperplázií folikulárních center. Jsou obklopeny normálně vypadající plášťovou zónou. Onemocnění může postihnout žaludek, celé tenké střevo a tlusté střevo. CANDIDATE +en tr HP:0011956 IAO:0000115 A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centers are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centers; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine. Bağırsağın lenfoproliferatif anormalliği, nadiren çapı 0.5 cm'yi aşan çok sayıda görünür mukozal nodül ile karakterizedir Histolojik olarak, büyük germinal merkezli hiperplastik lenfoid folliküller, lamina propriada yüzeyel submukozada görülür. Folikül merkezlerinin hiperplazisi nedeniyle mukozal B hücreli folliküllerin genişlemesi söz konusudur; normal görünen bir manto bölgesi ile çevrili. Hastalık, mideyi, tüm ince bağırsakları ve kalın bağırsağı etkileyebilir CANDIDATE en nl HP:0011956 rdfs:label Intestinal lymphoid nodular hyperplasia Intestinale lymfoïde nodulaire hyperplasie CANDIDATE en fr HP:0011956 rdfs:label Intestinal lymphoid nodular hyperplasia Hyperplasie lymphoïde nodulaire intestinale OFFICIAL label of HP:0011956 (Intestinal lymphoid nodular hyperplasia) ; abnormality of the digestive system en cs HP:0011956 rdfs:label Intestinal lymphoid nodular hyperplasia Střevní lymfoidní nodulární hyperplázie OFFICIAL @@ -73578,8 +73578,8 @@ en tr HP:0012059 rdfs:label Lentigo maligna melanoma Lentigo maligna melanoma OF en zh HP:0012059 rdfs:label Lentigo maligna melanoma 恶性雀斑样黑色素瘤 OFFICIAL en ja HP:0012059 rdfs:label Lentigo maligna melanoma 悪性黒子黒色腫 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0012059 rdfs:label Lentigo maligna melanoma Melanoma léntigo maligno OFFICIAL -en cs HP:0012060 IAO:0000115 A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed. Typ kožního melanomu lokalizovaného na dlani, chodidle nebo pod nehtem (subungvální melanom). Akrální lentiginózní melanom začíná jako pomalu se zvětšující plochá skvrna odbarvené kůže a obvykle vykazuje velikost nad 6 mm a často několik centimetrů nebo více v průměru po diagnóze a variabilní pigmentaci se směsí barev včetně hnědé, modrošedé, černé a červené. Povrch léze je zpočátku hladký, ale později se může stát silnější a nepravidelný a může ulcerovat nebo krvácet OFFICIAL -en tr HP:0012060 IAO:0000115 A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed. Avuç içine, ayak tabanına veya tırnak altına yerleşen bir kutanöz melanom türü (subungual melanoma). Akral desenli melanom, yavaş yavaş büyüyen, renksiz bir cilt yassı leke olarak başlar ve genellikle kahverengi, mavi-gri, siyah ve kırmızı tonları içeren bir renk karışımı değişken pigmentasyon ve tanıya göre çapı 6 mm'nin üzerinde ve çoğunlukla birkaç santimetre veya daha fazla bir boyut gösterir. Lezyonun yüzeyi başlangıçta pürüzsüzdür, ancak ilerleyen kısımda daha kalın ve düzensiz olabilir ve ülsere dönüşebilir veya kanayabilir CANDIDATE +en cs HP:0012060 IAO:0000115 A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discolored skin and usually displays a size above 6 mm and often several centimeters or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed. Typ kožního melanomu lokalizovaného na dlani, chodidle nebo pod nehtem (subungvální melanom). Akrální lentiginózní melanom začíná jako pomalu se zvětšující plochá skvrna odbarvené kůže a obvykle vykazuje velikost nad 6 mm a často několik centimetrů nebo více v průměru po diagnóze a variabilní pigmentaci se směsí barev včetně hnědé, modrošedé, černé a červené. Povrch léze je zpočátku hladký, ale později se může stát silnější a nepravidelný a může ulcerovat nebo krvácet CANDIDATE +en tr HP:0012060 IAO:0000115 A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discolored skin and usually displays a size above 6 mm and often several centimeters or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed. Avuç içine, ayak tabanına veya tırnak altına yerleşen bir kutanöz melanom türü (subungual melanoma). Akral desenli melanom, yavaş yavaş büyüyen, renksiz bir cilt yassı leke olarak başlar ve genellikle kahverengi, mavi-gri, siyah ve kırmızı tonları içeren bir renk karışımı değişken pigmentasyon ve tanıya göre çapı 6 mm'nin üzerinde ve çoğunlukla birkaç santimetre veya daha fazla bir boyut gösterir. Lezyonun yüzeyi başlangıçta pürüzsüzdür, ancak ilerleyen kısımda daha kalın ve düzensiz olabilir ve ülsere dönüşebilir veya kanayabilir CANDIDATE en nl HP:0012060 rdfs:label Acral lentiginous melanoma Acraal lentigineus melanoom CANDIDATE en fr HP:0012060 rdfs:label Acral lentiginous melanoma Mélanome lentigineux des extrémités OFFICIAL label of HP:0012060 (Acral lentiginous melanoma) ; abnormality of the integument ; neoplasm en cs HP:0012060 rdfs:label Acral lentiginous melanoma Akrální lentiginózní melanom OFFICIAL @@ -74186,8 +74186,8 @@ en tr HP:0012127 rdfs:label Uraciluria Urasilüri OFFICIAL en zh HP:0012127 rdfs:label Uraciluria 尿嘧啶尿症 OFFICIAL en ja HP:0012127 rdfs:label Uraciluria ウラシール尿 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0012127 rdfs:label Uraciluria Uraciluria OFFICIAL -en cs HP:0012128 IAO:0000115 Death of cells in the basal ganglia. Odúmrtí buněk bazálních ganglií OFFICIAL -en tr HP:0012128 IAO:0000115 Death of cells in the basal ganglia. Bazal gangliyada hücrelerin ölümleri OFFICIAL +en cs HP:0012128 IAO:0000115 Death of cells in the basal ganglia. This finding can be confirmed by autopsy. It can be suspected with hyperintensities within the basal ganglia on FLAIR and T2-sequences on magnetic resonance imaging. Odúmrtí buněk bazálních ganglií CANDIDATE +en tr HP:0012128 IAO:0000115 Death of cells in the basal ganglia. This finding can be confirmed by autopsy. It can be suspected with hyperintensities within the basal ganglia on FLAIR and T2-sequences on magnetic resonance imaging. Bazal gangliyada hücrelerin ölümleri CANDIDATE en nl HP:0012128 rdfs:label Basal ganglia necrosis Basale ganglia necrose CANDIDATE en fr HP:0012128 rdfs:label Basal ganglia necrosis Nécrose des ganglions de la base OFFICIAL label of HP:0012128 (Basal ganglia necrosis) ; abnormality of the nervous system en cs HP:0012128 rdfs:label Basal ganglia necrosis Nekróza bazálních ganglií OFFICIAL @@ -77339,8 +77339,8 @@ en tr HP:0012489 rdfs:label Suprasellar arachnoid cyst Suprasellar araknoid kist en zh HP:0012489 rdfs:label Suprasellar arachnoid cyst 鞍上蛛网膜囊肿 OFFICIAL en ja HP:0012489 rdfs:label Suprasellar arachnoid cyst 鞍上くも膜嚢胞 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0012489 rdfs:label Suprasellar arachnoid cyst Quiste aracnoideo supraselar OFFICIAL -en cs HP:0012490 IAO:0000115 Inflammation of adipose tissue. Zánět tukové tkáně OFFICIAL -en tr HP:0012490 IAO:0000115 Inflammation of adipose tissue. Adipoz doku inflamasyonu OFFICIAL +en cs HP:0012490 IAO:0000115 Inflammation of subcutaneous adipose tissue. Zánět tukové tkáně CANDIDATE +en tr HP:0012490 IAO:0000115 Inflammation of subcutaneous adipose tissue. Adipoz doku inflamasyonu CANDIDATE en nl HP:0012490 rdfs:label Panniculitis Panniculitis CANDIDATE en fr HP:0012490 rdfs:label Panniculitis Panniculite OFFICIAL label of HP:0012490 (Panniculitis) ; abnormality of the immune system ; abnormality of connective tissue en cs HP:0012490 rdfs:label Panniculitis Panikulitida OFFICIAL @@ -77582,15 +77582,15 @@ en tr HP:0012516 rdfs:label Tetralogy of Fallot with pulmonary atresia Pulmoner en zh HP:0012516 rdfs:label Tetralogy of Fallot with pulmonary atresia 法洛四联症伴肺动脉闭锁 OFFICIAL en ja HP:0012516 rdfs:label Tetralogy of Fallot with pulmonary atresia 肺動脈弁閉鎖を伴うFallot 四徴症 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0012516 rdfs:label Tetralogy of Fallot with pulmonary atresia Tetralogía de Fallot con atresia pulmonar OFFICIAL -en cs HP:0012517 IAO:0000115 An abnormally decreased amount of catalase level. Abnormálně snížené množství hladiny katalázy OFFICIAL -en tr HP:0012517 IAO:0000115 An abnormally decreased amount of catalase level. Anormal olarak azalmış miktarda katalaz aktivitesi CANDIDATE -en nl HP:0012517 rdfs:label Reduced catalase level Verminderde katalase activiteit CANDIDATE -en fr HP:0012517 rdfs:label Reduced catalase level Activité réduite de la catalase CANDIDATE label of HP:0012517 (Reduced catalase activity) ; abnormality of metabolism/homeostasis -en cs HP:0012517 rdfs:label Reduced catalase level Snížená hladina katalázy OFFICIAL -en tr HP:0012517 rdfs:label Reduced catalase level Azalmış katalaz aktivitesi CANDIDATE -en zh HP:0012517 rdfs:label Reduced catalase level 过氧化氢酶活性降低 OFFICIAL -en ja HP:0012517 rdfs:label Reduced catalase level カタラーゼ活性減少 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT -en es HP:0012517 rdfs:label Reduced catalase level Disminución de la actividad de la catalasa CANDIDATE +en cs HP:0012517 IAO:0000115 Activity or concentration of catalase in the blood circulation below the lower limit of normal. Abnormálně snížené množství hladiny katalázy CANDIDATE +en tr HP:0012517 IAO:0000115 Activity or concentration of catalase in the blood circulation below the lower limit of normal. Anormal olarak azalmış miktarda katalaz aktivitesi CANDIDATE +en nl HP:0012517 rdfs:label Reduced circulating catalase activity Verminderde katalase activiteit CANDIDATE +en fr HP:0012517 rdfs:label Reduced circulating catalase activity Activité réduite de la catalase CANDIDATE label of HP:0012517 (Reduced catalase activity) ; abnormality of metabolism/homeostasis +en cs HP:0012517 rdfs:label Reduced circulating catalase activity Snížená hladina katalázy CANDIDATE +en tr HP:0012517 rdfs:label Reduced circulating catalase activity Azalmış katalaz aktivitesi CANDIDATE +en zh HP:0012517 rdfs:label Reduced circulating catalase activity 过氧化氢酶活性降低 CANDIDATE +en ja HP:0012517 rdfs:label Reduced circulating catalase activity カタラーゼ活性減少 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT +en es HP:0012517 rdfs:label Reduced circulating catalase activity Disminución de la actividad de la catalasa CANDIDATE en cs HP:0012518 IAO:0000115 An anomaly of the circle of Willis, also known as the cerebral arterial circle. Anomálie Willisova okruhu, taktíž známeho jako circulus arteriosus cerebri OFFICIAL en tr HP:0012518 IAO:0000115 An anomaly of the circle of Willis, also known as the cerebral arterial circle. Serebral arteriyel poligon olarak da bilinen Willis poligonunun bir anomalisi OFFICIAL en nl HP:0012518 rdfs:label Abnormal circle of Willis morphology Afwijking van de cirkel van Willis CANDIDATE @@ -77663,8 +77663,8 @@ en tr HP:0012525 rdfs:label Abnormal alpha granule distribution Anormal alfa gra en zh HP:0012525 rdfs:label Abnormal alpha granule distribution α颗粒分布异常 OFFICIAL en ja HP:0012525 rdfs:label Abnormal alpha granule distribution α顆粒分布の異常な OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0012525 rdfs:label Abnormal alpha granule distribution Distribución anormal de gránulos alfa OFFICIAL -en cs HP:0012526 IAO:0000115 A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears. Nedostatek alfa granulí krevních destiček. To obvykle vede k šedému vzhledu krevních destiček v krevních nátěrech obarvených giemsou. OFFICIAL -en tr HP:0012526 IAO:0000115 A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears. Platelet alfa granüllerinin yokluğu. Bu tipik olarak plateletlerin giemsa boyalı kan sürüntüsünde gri gözükmesi ile sonuçlanır OFFICIAL +en cs HP:0012526 IAO:0000115 A lack of platelet alpha granules. This typically results in the gray appearance of platelets in giemsa stained blood smears. Nedostatek alfa granulí krevních destiček. To obvykle vede k šedému vzhledu krevních destiček v krevních nátěrech obarvených giemsou. CANDIDATE +en tr HP:0012526 IAO:0000115 A lack of platelet alpha granules. This typically results in the gray appearance of platelets in giemsa stained blood smears. Platelet alfa granüllerinin yokluğu. Bu tipik olarak plateletlerin giemsa boyalı kan sürüntüsünde gri gözükmesi ile sonuçlanır CANDIDATE en nl HP:0012526 rdfs:label Absence of alpha granules Afwezigheid van alfa-granules CANDIDATE en fr HP:0012526 rdfs:label Absence of alpha granules Absence de granules alpha OFFICIAL label of HP:0012526 (Absence of alpha granules) ; abnormality of blood and blood-forming tissues en cs HP:0012526 rdfs:label Absence of alpha granules Chybění alfa granul OFFICIAL @@ -80072,8 +80072,8 @@ en tr HP:0012795 rdfs:label Abnormal optic disc morphology Optik disk anormalli en zh HP:0012795 rdfs:label Abnormal optic disc morphology 视盘形态异常 OFFICIAL en ja HP:0012795 rdfs:label Abnormal optic disc morphology 視神経杯の異常 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0012795 rdfs:label Abnormal optic disc morphology Anomalía del disco óptico CANDIDATE -en cs HP:0012796 IAO:0000115 An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells. Zvýšení poměru průměru pohárku očního disku k celkovému průměru disku. Disk zrakového nervu má oranžově růžový okraj se světlým středem (pohárek), který neobsahuje neuroretinální tkáň. Zvýšení tohoto poměru může znamenat snížení množství zdravých neuroretinálních buněk. OFFICIAL -en tr HP:0012796 IAO:0000115 An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells. Optik disk çukurluğunun çapının diskin toplam çapına oranındaki yükselme. Optik diskte, nöroretinal doku içermeyen, soluk bir merkezi (çukurluğu) olan turuncu-pembe bir çerçeve bulunur. Bu orandaki artış, sağlıklı nöroretinal hücrelerin miktarında bir düşüş olduğunu gösterebilir CANDIDATE +en cs HP:0012796 IAO:0000115 An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disk. The optic disc has an orange-pink rim with a pale center (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells. Zvýšení poměru průměru pohárku očního disku k celkovému průměru disku. Disk zrakového nervu má oranžově růžový okraj se světlým středem (pohárek), který neobsahuje neuroretinální tkáň. Zvýšení tohoto poměru může znamenat snížení množství zdravých neuroretinálních buněk. CANDIDATE +en tr HP:0012796 IAO:0000115 An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disk. The optic disc has an orange-pink rim with a pale center (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells. Optik disk çukurluğunun çapının diskin toplam çapına oranındaki yükselme. Optik diskte, nöroretinal doku içermeyen, soluk bir merkezi (çukurluğu) olan turuncu-pembe bir çerçeve bulunur. Bu orandaki artış, sağlıklı nöroretinal hücrelerin miktarında bir düşüş olduğunu gösterebilir CANDIDATE en nl HP:0012796 rdfs:label Increased cup-to-disc ratio Toegenomen cup/disc ratio CANDIDATE en fr HP:0012796 rdfs:label Increased cup-to-disc ratio Augmentation du rapport cupule/disque OFFICIAL label of HP:0012796 (Increased cup-to-disc ratio) ; abnormality of the eye en cs HP:0012796 rdfs:label Increased cup-to-disc ratio Zvýšený poměr pohárku k disku OFFICIAL @@ -81102,8 +81102,8 @@ en tr HP:0020041 rdfs:label Double elevator palsy Çift elevatör felci OFFICIAL en zh HP:0020041 rdfs:label Double elevator palsy 双下转肌麻痹 OFFICIAL en ja HP:0020041 rdfs:label Double elevator palsy 両上肢麻痺 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0020041 rdfs:label Double elevator palsy Parálisis doble de los músculos elevadores del ojo OFFICIAL -en cs HP:0020042 IAO:0000115 An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye. Abnormalní pohyb očí charakterizovaný současnou slabostí musculus rectus inferior a musculus obliquus superior téhož oka. OFFICIAL -en tr HP:0020042 IAO:0000115 An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye. Aynı gözün inferior rektus kasının ve superior oblik kasının eş zamanlı zayıflığı ile karakterize bir oküler hareket anormalliği OFFICIAL +en cs HP:0020042 IAO:0000115 An ocular movement abnormality characterized by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye. Abnormalní pohyb očí charakterizovaný současnou slabostí musculus rectus inferior a musculus obliquus superior téhož oka. CANDIDATE +en tr HP:0020042 IAO:0000115 An ocular movement abnormality characterized by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye. Aynı gözün inferior rektus kasının ve superior oblik kasının eş zamanlı zayıflığı ile karakterize bir oküler hareket anormalliği CANDIDATE en fr HP:0020042 rdfs:label Double depressor palsy Paralysie du double dépresseur OFFICIAL label of HP:0020042 (Double depressor palsy) ; abnormality of the eye en cs HP:0020042 rdfs:label Double depressor palsy Dvojitá paréza depresorů OFFICIAL en tr HP:0020042 rdfs:label Double depressor palsy Çift depresör felci OFFICIAL @@ -81227,14 +81227,14 @@ en tr HP:0020062 rdfs:label Decreased hemoglobin concentration Azalmış hemoglo en zh HP:0020062 rdfs:label Decreased hemoglobin concentration 血红蛋白浓度减低 OFFICIAL en ja HP:0020062 rdfs:label Decreased hemoglobin concentration ヘモグロビン濃度の減少 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0020062 rdfs:label Decreased hemoglobin concentration Disminución de la concentración de hemoglobina. OFFICIAL -en cs HP:0020063 IAO:0000115 An abnormal elevation above normal hemoglobin concentration in the circulation. Abnormální zvýšení koncentrace hemoglobinu v oběhu nad normální hodnoty OFFICIAL -en tr HP:0020063 IAO:0000115 An abnormal elevation above normal hemoglobin concentration in the circulation. Dolaşımda normal hemoglobin konsantrasyonu üstüne anormal bir yükselme OFFICIAL -en fr HP:0020063 rdfs:label Increased hemoglobin concentration Augmentation de la concentration d'hémoglobine OFFICIAL label of HP:0020063 (Increased hemoglobin concentration) ; abnormality of blood and blood-forming tissues -en cs HP:0020063 rdfs:label Increased hemoglobin concentration Zvýšená koncentrace hemoglobinu OFFICIAL -en tr HP:0020063 rdfs:label Increased hemoglobin concentration Artmış hemoglobin konsantrasyonu OFFICIAL -en zh HP:0020063 rdfs:label Increased hemoglobin concentration 血红蛋白浓度增高 OFFICIAL -en ja HP:0020063 rdfs:label Increased hemoglobin concentration ヘモグロビン濃度の上昇 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT -en es HP:0020063 rdfs:label Increased hemoglobin concentration Aumento de la concentración de hemoglobina. OFFICIAL +en cs HP:0020063 IAO:0000115 An abnormal elevation above normal hemoglobin concentration in the circulation Abnormální zvýšení koncentrace hemoglobinu v oběhu nad normální hodnoty OFFICIAL +en tr HP:0020063 IAO:0000115 An abnormal elevation above normal hemoglobin concentration in the circulation Dolaşımda normal hemoglobin konsantrasyonu üstüne anormal bir yükselme OFFICIAL +en fr HP:0020063 rdfs:label obsolete Increased hemoglobin concentration Augmentation de la concentration d'hémoglobine CANDIDATE label of HP:0020063 (Increased hemoglobin concentration) ; abnormality of blood and blood-forming tissues +en cs HP:0020063 rdfs:label obsolete Increased hemoglobin concentration Zvýšená koncentrace hemoglobinu CANDIDATE +en tr HP:0020063 rdfs:label obsolete Increased hemoglobin concentration Artmış hemoglobin konsantrasyonu CANDIDATE +en zh HP:0020063 rdfs:label obsolete Increased hemoglobin concentration 血红蛋白浓度增高 CANDIDATE +en ja HP:0020063 rdfs:label obsolete Increased hemoglobin concentration ヘモグロビン濃度の上昇 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT +en es HP:0020063 rdfs:label obsolete Increased hemoglobin concentration Aumento de la concentración de hemoglobina. CANDIDATE en cs HP:0020064 IAO:0000115 Any deviation from the normal number of eosinophils per volume in the blood circulation. Jakákoli odchylka od normálního počtu eozinofilů na objem v krevním oběhu OFFICIAL en tr HP:0020064 IAO:0000115 Any deviation from the normal number of eosinophils per volume in the blood circulation. Dolaşımda hacim başına eozinofillerin normal sayısından herhangi bir sapma OFFICIAL en fr HP:0020064 rdfs:label Abnormal eosinophil count Numération anormale des éosinophiles OFFICIAL label of HP:0020064 (Abnormal eosinophil count) ; abnormality of the immune system ; abnormality of blood and blood-forming tissues @@ -81394,7 +81394,7 @@ en cs HP:0020101 rdfs:label Invasive fungal infection Invazivní houbová infekc en zh HP:0020101 rdfs:label Invasive fungal infection 侵袭性真菌感染 OFFICIAL en ja HP:0020101 rdfs:label Invasive fungal infection 侵入性真菌感染症 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0020101 rdfs:label Invasive fungal infection Infección micótica invasiva OFFICIAL -en cs HP:0020102 IAO:0000115 An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnoea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing. Oportunní onemocnění způsobené invazí jednobuněčné houby Pneumocystis jirovecii. K přenosu cyst P. jirovecii dochází vzdušnou cestou a její přítomnost v plicích je obvykle asymptomatická. Lidé s oslabenou imunitou, zejména ti s počtem CD4+ T buněk nižším než 200/mikrolitr, jsou však stále ohroženi vznikem pneumocystové pneumonie v důsledku invaze P. jirovecii. Příznaky vyvolané tímto onemocněním nejsou specifické: progresivní dušnost, neproduktivní kašel, nízká horečka, arteriální parciální tlak kyslíku pod 65 mmHg a oboustranné zastínení intersticia na rentgenových snímcích plic. CANDIDATE +en cs HP:0020102 IAO:0000115 An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing. Oportunní onemocnění způsobené invazí jednobuněčné houby Pneumocystis jirovecii. K přenosu cyst P. jirovecii dochází vzdušnou cestou a její přítomnost v plicích je obvykle asymptomatická. Lidé s oslabenou imunitou, zejména ti s počtem CD4+ T buněk nižším než 200/mikrolitr, jsou však stále ohroženi vznikem pneumocystové pneumonie v důsledku invaze P. jirovecii. Příznaky vyvolané tímto onemocněním nejsou specifické: progresivní dušnost, neproduktivní kašel, nízká horečka, arteriální parciální tlak kyslíku pod 65 mmHg a oboustranné zastínení intersticia na rentgenových snímcích plic. CANDIDATE en cs HP:0020102 rdfs:label Pneumocystis jirovecii pneumonia Pneumonie způsobená Pneumocystis jirovecii CANDIDATE en zh HP:0020102 rdfs:label Pneumocystis jirovecii pneumonia 肺孢子菌肺炎 OFFICIAL en ja HP:0020102 rdfs:label Pneumocystis jirovecii pneumonia ニューモシスティス・ジロベシ肺炎 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT @@ -81729,11 +81729,11 @@ en cs HP:0020174 rdfs:label Refractory drug response Refrakterní odpověď na l en zh HP:0020174 rdfs:label Refractory drug response 药物治疗应答无能 OFFICIAL en ja HP:0020174 rdfs:label Refractory drug response 難治性薬物反応 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0020174 rdfs:label Refractory drug response Respuesta farmacológica refractaria OFFICIAL -en cs HP:0020175 IAO:0000115 A decreased amount of cholinesterase in the blood circulation. Snížené množství cholinesterázy v krevním oběhu. CANDIDATE -en cs HP:0020175 rdfs:label Reduced cholinesterase level Snížená hladina cholinesterázy CANDIDATE -en zh HP:0020175 rdfs:label Reduced cholinesterase level 胆碱酯酶水平降低 OFFICIAL -en ja HP:0020175 rdfs:label Reduced cholinesterase level コリンエステラーゼ値の低下 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT -en es HP:0020175 rdfs:label Reduced cholinesterase level Disminución del nivel de colinesterasa OFFICIAL +en cs HP:0020175 IAO:0000115 Activity or concentration of cholinesterase in the blood circulation below the lower limit of normal. Snížené množství cholinesterázy v krevním oběhu. CANDIDATE +en cs HP:0020175 rdfs:label Reduced circulating cholinesterase activity Snížená hladina cholinesterázy CANDIDATE +en zh HP:0020175 rdfs:label Reduced circulating cholinesterase activity 胆碱酯酶水平降低 CANDIDATE +en ja HP:0020175 rdfs:label Reduced circulating cholinesterase activity コリンエステラーゼ値の低下 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT +en es HP:0020175 rdfs:label Reduced circulating cholinesterase activity Disminución del nivel de colinesterasa CANDIDATE en cs HP:0020176 rdfs:label Cholesterol crystalluria Cholesterolová krystalurie CANDIDATE en zh HP:0020176 rdfs:label Cholesterol crystalluria 胆固醇结晶尿 OFFICIAL en ja HP:0020176 rdfs:label Cholesterol crystalluria コレステロール結晶尿 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT @@ -81858,17 +81858,17 @@ en cs HP:0020200 rdfs:label Increased circulating 18-hydroxycortisone level Zvý en zh HP:0020200 rdfs:label Increased circulating 18-hydroxycortisone level 血液18-羟基皮质酮水平升高 OFFICIAL en ja HP:0020200 rdfs:label Increased circulating 18-hydroxycortisone level 循環18-ヒドロキシコルチゾン濃度の上昇 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0020200 rdfs:label Increased circulating 18-hydroxycortisone level Aumento del nivel de 18-hidroxicortisona circulante OFFICIAL -en cs HP:0020201 IAO:0000115 Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. Jakákoli strukturální vada sarkomery, jež je základní jednotkou myofibril ve svalové buňce, obsahuje překrývající se tlustá a tenká vlákna mezi dvěma sousedními Z disky CANDIDATE +en cs HP:0020201 IAO:0000115 Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z disks. Jakákoli strukturální vada sarkomery, jež je základní jednotkou myofibril ve svalové buňce, obsahuje překrývající se tlustá a tenká vlákna mezi dvěma sousedními Z disky CANDIDATE en cs HP:0020201 rdfs:label Abnormal sarcomere morphology Abnormální morfologie sarkomery CANDIDATE en zh HP:0020201 rdfs:label Abnormal sarcomere morphology 肌节形态异常 OFFICIAL en ja HP:0020201 rdfs:label Abnormal sarcomere morphology サルコメアの形態異常 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0020201 rdfs:label Abnormal sarcomere morphology Morfología anormal del sarcómero OFFICIAL -en cs HP:0020202 IAO:0000115 Any structural anomaly of the Z disc, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. Jakákoli strukturální vada Z-disku, což je deskovitá oblast sarkomery, ve které jsou ukotveny +konce aktinových vláken CANDIDATE -en cs HP:0020202 rdfs:label Abnormal Z disc morphology Abnormální morfologie Z-disku CANDIDATE -en zh HP:0020202 rdfs:label Abnormal Z disc morphology Z盘形态异常 OFFICIAL -en ja HP:0020202 rdfs:label Abnormal Z disc morphology Zディスク形態異常 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT -en es HP:0020202 rdfs:label Abnormal Z disc morphology Morfología anormal del disco Z OFFICIAL -en cs HP:0020203 IAO:0000115 Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disc may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change. Rozšíření či natažení z-disku, který pak již není omezen na úzkou zónu, která protíná I proužek. Z-disk se může klikatě táhnout napříč I proužkem nebo celou sarkomerou. Současně dochází k ohniskovému zesílení a roztažení z-disku. Myofibrilární dezorganizace je častou, ale ne neměnnou doprovodnou změnou CANDIDATE +en cs HP:0020202 IAO:0000115 Any structural anomaly of the Z disk, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. Jakákoli strukturální vada Z-disku, což je deskovitá oblast sarkomery, ve které jsou ukotveny +konce aktinových vláken CANDIDATE +en cs HP:0020202 rdfs:label Abnormal Z disk morphology Abnormální morfologie Z-disku CANDIDATE +en zh HP:0020202 rdfs:label Abnormal Z disk morphology Z盘形态异常 CANDIDATE +en ja HP:0020202 rdfs:label Abnormal Z disk morphology Zディスク形態異常 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT +en es HP:0020202 rdfs:label Abnormal Z disk morphology Morfología anormal del disco Z CANDIDATE +en cs HP:0020203 IAO:0000115 Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disk may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change. Rozšíření či natažení z-disku, který pak již není omezen na úzkou zónu, která protíná I proužek. Z-disk se může klikatě táhnout napříč I proužkem nebo celou sarkomerou. Současně dochází k ohniskovému zesílení a roztažení z-disku. Myofibrilární dezorganizace je častou, ale ne neměnnou doprovodnou změnou CANDIDATE en cs HP:0020203 rdfs:label Z-band streaming Rozšíření pásma Z (Z-disku) CANDIDATE en zh HP:0020203 rdfs:label Z-band streaming Z带漂移 OFFICIAL en ja HP:0020203 rdfs:label Z-band streaming Zバンドストリーミング OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT @@ -82816,8 +82816,8 @@ en tr HP:0025104 rdfs:label Capillary malformation Kapiller malformasyon OFFICIA en zh HP:0025104 rdfs:label Capillary malformation 毛细血管畸形 OFFICIAL en ja HP:0025104 rdfs:label Capillary malformation 毛細血管奇形 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0025104 rdfs:label Capillary malformation Malformación capilar OFFICIAL -en cs HP:0025105 IAO:0000115 A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anaemic spots. Naevus anemicus je kožní léze charakterizovaná nepravidelnými hypopigmentovanými makulami které splývají do plaků a vyskytují se primárně na hrudníku. Obvykle se vyskytuje při narození nebo se vyvíjí v prvních dnech života. Je častější u žen. Diagnóza je potvrzena aplikací jemného tření na lézi a okolní kůži a kontrolou, zda se erytém produkovaný na zdravé kůži neobjevuje v hypopigmentované lézi. Tato bledá makula se stává nápadnější, když se léze a její okolí třou. Okraj naevu je špatně ohraničený a skládá se ze souostroví malých anemických skvrn. CANDIDATE -en tr HP:0025105 IAO:0000115 A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anaemic spots. Düzensiz hipopigmente maküller ile karakterize konjenital bir cilt lezyonu, plaklar oluşturmak için birleşir ve özellikle göğüs bölgesinde görülür. Genellikle doğumda ya da yaşamın ilk günlerinde gelişir. Kadınlarda daha sık görülür. Tanı, lezyona ve çevreleyen deriye hafif sürtünme uygulayarak ve sağlıklı deride üretilen eritemin hipopigmente lezyonda görünmediğini kontrol ederek teyit edilir. Bu soluk makül, lezyon ve çevresi ovulduğunda daha belirgin hale gelir. Küçük anemik noktalar adasından oluşan nevüsün marjı tam tanımlanmıştır CANDIDATE +en cs HP:0025105 IAO:0000115 A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anemic spots. Naevus anemicus je kožní léze charakterizovaná nepravidelnými hypopigmentovanými makulami které splývají do plaků a vyskytují se primárně na hrudníku. Obvykle se vyskytuje při narození nebo se vyvíjí v prvních dnech života. Je častější u žen. Diagnóza je potvrzena aplikací jemného tření na lézi a okolní kůži a kontrolou, zda se erytém produkovaný na zdravé kůži neobjevuje v hypopigmentované lézi. Tato bledá makula se stává nápadnější, když se léze a její okolí třou. Okraj naevu je špatně ohraničený a skládá se ze souostroví malých anemických skvrn. CANDIDATE +en tr HP:0025105 IAO:0000115 A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anemic spots. Düzensiz hipopigmente maküller ile karakterize konjenital bir cilt lezyonu, plaklar oluşturmak için birleşir ve özellikle göğüs bölgesinde görülür. Genellikle doğumda ya da yaşamın ilk günlerinde gelişir. Kadınlarda daha sık görülür. Tanı, lezyona ve çevreleyen deriye hafif sürtünme uygulayarak ve sağlıklı deride üretilen eritemin hipopigmente lezyonda görünmediğini kontrol ederek teyit edilir. Bu soluk makül, lezyon ve çevresi ovulduğunda daha belirgin hale gelir. Küçük anemik noktalar adasından oluşan nevüsün marjı tam tanımlanmıştır CANDIDATE en nl HP:0025105 rdfs:label Nevus anemicus Naevus anemicus CANDIDATE en fr HP:0025105 rdfs:label Nevus anemicus Nevus anémié OFFICIAL label of HP:0025105 (Nevus anemicus) ; abnormality of the integument en cs HP:0025105 rdfs:label Nevus anemicus Nevus anemicus OFFICIAL @@ -83489,8 +83489,8 @@ en tr HP:0025182 rdfs:label Localized area of pendulous skin Lokalize pendüloz en zh HP:0025182 rdfs:label Localized area of pendulous skin 局限性皮肤松弛 OFFICIAL en ja HP:0025182 rdfs:label Localized area of pendulous skin 局所的皮下陥没 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0025182 rdfs:label Localized area of pendulous skin Área localizada de piel colgante OFFICIAL -en cs HP:0025186 IAO:0000115 Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing. Jednostranná ptóza s přidruženou kontrakcí horního víčka a kontrakcí vnějšího nebo vnitřního musculus pterygoideus. Předpokládá se, že k němu dochází v důsledku vrozeného špatného zapojení větve pátého hlavového nervu do větve třetího hlavového nervu zásobujícího musculus levator. U Marcuse Gunn syndromu je elevace a dokonce retrakce postiženého víčka spuštěna žvýkáním, sáním, bočním pohybem dolní čelisti, úsměvem, kontrakcí musculus sternocleidomastoideus, vyplazeným jazykem, Valsalvovým manévrem a dokonce i dýcháním. OFFICIAL -en tr HP:0025186 IAO:0000115 Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing. Üst göz kapağı kasılması ve dış veya iç pterigoid kasının kasılmasına bağlı unilateral pitozis. Beşinci kranyal sinir dalının levator kasını sağlayan üçüncü kranyal sinir dalına konjenital olarak hatalı bağlanması nedeniyle rastlandığı düşünülmektedir. Marcus Gunn çene göz kırpma sinkinezisinde, etkilenmiş göz kapağının yükselmesi ve hatta geri çekilmesi, çiğneme, emme, yanal mandibüla hareketi, gülümseme, sternokleidomastoyid kontraksiyon, çıkıntılı dilde, Valsalva manevrası ve hatta solunum yoluyla tetiklenir CANDIDATE +en cs HP:0025186 IAO:0000115 Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva maneuver and even by breathing. Jednostranná ptóza s přidruženou kontrakcí horního víčka a kontrakcí vnějšího nebo vnitřního musculus pterygoideus. Předpokládá se, že k němu dochází v důsledku vrozeného špatného zapojení větve pátého hlavového nervu do větve třetího hlavového nervu zásobujícího musculus levator. U Marcuse Gunn syndromu je elevace a dokonce retrakce postiženého víčka spuštěna žvýkáním, sáním, bočním pohybem dolní čelisti, úsměvem, kontrakcí musculus sternocleidomastoideus, vyplazeným jazykem, Valsalvovým manévrem a dokonce i dýcháním. CANDIDATE +en tr HP:0025186 IAO:0000115 Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva maneuver and even by breathing. Üst göz kapağı kasılması ve dış veya iç pterigoid kasının kasılmasına bağlı unilateral pitozis. Beşinci kranyal sinir dalının levator kasını sağlayan üçüncü kranyal sinir dalına konjenital olarak hatalı bağlanması nedeniyle rastlandığı düşünülmektedir. Marcus Gunn çene göz kırpma sinkinezisinde, etkilenmiş göz kapağının yükselmesi ve hatta geri çekilmesi, çiğneme, emme, yanal mandibüla hareketi, gülümseme, sternokleidomastoyid kontraksiyon, çıkıntılı dilde, Valsalva manevrası ve hatta solunum yoluyla tetiklenir CANDIDATE en nl HP:0025186 rdfs:label Marcus Gunn jaw winking synkinesis Marcus Gunn jaw winking syndroom CANDIDATE en fr HP:0025186 rdfs:label Marcus Gunn jaw winking synkinesis Syncinésies de la mâchoire de Marcus Gunn OFFICIAL label of HP:0025186 (Marcus Gunn jaw winking synkinesis) ; abnormality of the eye en cs HP:0025186 rdfs:label Marcus Gunn jaw winking synkinesis Marcus Gunn syndrom OFFICIAL @@ -83507,8 +83507,8 @@ en tr HP:0025188 rdfs:label Retinal vasculitis Retinal vaskülit OFFICIAL en zh HP:0025188 rdfs:label Retinal vasculitis 视网膜血管炎 OFFICIAL en ja HP:0025188 rdfs:label Retinal vasculitis 網膜血管炎 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0025188 rdfs:label Retinal vasculitis Vasculitis retiniana OFFICIAL -en cs HP:0025190 IAO:0000115 A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterised by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure. Bilaterální tonicko-klonický záchvat s generalizovaným nástupem je typ bilaterálního tonicko-klonického záchvatu, který se vyznačuje generalizovaným nástupem; tyto záchvaty na začátku záchvatu rychle zahrnují obě hemisféry. CANDIDATE -en tr HP:0025190 IAO:0000115 A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterised by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure. Meydana gelen ve hızla bilateral dağılımlı ağların içine giren generalize tonik-klonik bir nöbet tipi CANDIDATE +en cs HP:0025190 IAO:0000115 A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterized by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure. Bilaterální tonicko-klonický záchvat s generalizovaným nástupem je typ bilaterálního tonicko-klonického záchvatu, který se vyznačuje generalizovaným nástupem; tyto záchvaty na začátku záchvatu rychle zahrnují obě hemisféry. CANDIDATE +en tr HP:0025190 IAO:0000115 A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterized by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure. Meydana gelen ve hızla bilateral dağılımlı ağların içine giren generalize tonik-klonik bir nöbet tipi CANDIDATE en nl HP:0025190 rdfs:label Bilateral tonic-clonic seizure with generalized onset Gegeneraliseerde tonisch-clonische aanvallen met focaal begin CANDIDATE en fr HP:0025190 rdfs:label Bilateral tonic-clonic seizure with generalized onset Crises tonico-cloniques généralisées sans début focal CANDIDATE label of HP:0025190 (Generalized tonic-clonic seizures without focal onset) ; abnormality of the nervous system en cs HP:0025190 rdfs:label Bilateral tonic-clonic seizure with generalized onset Generalizované tonicko-klonické záchvaty bez fokálního začátku CANDIDATE @@ -85196,8 +85196,8 @@ en tr HP:0025388 rdfs:label Thyroid nodule Tiroid nodülü OFFICIAL en zh HP:0025388 rdfs:label Thyroid nodule 甲状腺结节 OFFICIAL en ja HP:0025388 rdfs:label Thyroid nodule 甲状腺結節 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0025388 rdfs:label Thyroid nodule Nódulo tiroideo OFFICIAL -en cs HP:0025389 IAO:0000115 High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities. Výpočetní tomografie s vysokým prostorovým rozlišením (HRCT) může rozlišit nálezy, které charakterizují intersticiální plicní onemocnění způsobem, který není možný s jinými modalitami OFFICIAL -en tr HP:0025389 IAO:0000115 High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities. Yüksek çözünürlüklü bilgisayarlı tomografi (YÇBT) diğer modaliteler ile mümkün olmayan şekilde intersitisyel akciğer hastalıklarını karakterize eden bulguları ayırt edebilir OFFICIAL +en cs HP:0025389 IAO:0000115 High-resolution computed tomography (HRCT) can distinguish findings that characterize characterize interstitial lung diseases in a way not possible with other modalities. Výpočetní tomografie s vysokým prostorovým rozlišením (HRCT) může rozlišit nálezy, které charakterizují intersticiální plicní onemocnění způsobem, který není možný s jinými modalitami CANDIDATE +en tr HP:0025389 IAO:0000115 High-resolution computed tomography (HRCT) can distinguish findings that characterize characterize interstitial lung diseases in a way not possible with other modalities. Yüksek çözünürlüklü bilgisayarlı tomografi (YÇBT) diğer modaliteler ile mümkün olmayan şekilde intersitisyel akciğer hastalıklarını karakterize eden bulguları ayırt edebilir CANDIDATE en nl HP:0025389 rdfs:label Pulmonary interstitial high-resolution computed tomography abnormality Pulmonaire interstitiële hoge-resolutie computertomografie afwijking CANDIDATE en fr HP:0025389 rdfs:label Pulmonary interstitial high-resolution computed tomography abnormality Anomalie de la tomographie à haute résolution interstitielle pulmonaire OFFICIAL label of HP:0025389 (Pulmonary interstitial high-resolution computed tomography abnormality) ; abnormality of the respiratory system en cs HP:0025389 rdfs:label Pulmonary interstitial high-resolution computed tomography abnormality Pulmonární intersticiální abnormalita patrná na výpočetní tomografii s vysokým prostorovým rozlišením (HRCT) plic OFFICIAL @@ -85205,8 +85205,8 @@ en tr HP:0025389 rdfs:label Pulmonary interstitial high-resolution computed tomo en zh HP:0025389 rdfs:label Pulmonary interstitial high-resolution computed tomography abnormality 肺间质高分辨率计算机断层扫描异常 OFFICIAL en ja HP:0025389 rdfs:label Pulmonary interstitial high-resolution computed tomography abnormality 肺間質性高分解能CT異常 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0025389 rdfs:label Pulmonary interstitial high-resolution computed tomography abnormality Anomalía intersticial pulmonar en la tomografía computada de alta resolución OFFICIAL -en cs HP:0025390 IAO:0000115 On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh. Nález na výpočetní tomografii s vysokým prostorovým rozlišením (HRCT) plic, konkrétně retikulární změna typická nespočetnými vzájemně se proplétající stíny připomínající síť OFFICIAL -en tr HP:0025390 IAO:0000115 On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh. Pulmoner interstisyel yüksek çözünürlüklü bilgisayarlı tomografide retiküler patern bir ağı andıran birbiri içine geçmiş sayısız gölge ile karakterizedir OFFICIAL +en cs HP:0025390 IAO:0000115 On pulmonary high-resolution computed tomography, reticular pattern is characterized by innumerable interlacing shadows suggesting a mesh. Nález na výpočetní tomografii s vysokým prostorovým rozlišením (HRCT) plic, konkrétně retikulární změna typická nespočetnými vzájemně se proplétající stíny připomínající síť CANDIDATE +en tr HP:0025390 IAO:0000115 On pulmonary high-resolution computed tomography, reticular pattern is characterized by innumerable interlacing shadows suggesting a mesh. Pulmoner interstisyel yüksek çözünürlüklü bilgisayarlı tomografide retiküler patern bir ağı andıran birbiri içine geçmiş sayısız gölge ile karakterizedir CANDIDATE en nl HP:0025390 rdfs:label Reticular pattern on pulmonary HRCT Reticulair patroon op pulmonale HRCT CANDIDATE en fr HP:0025390 rdfs:label Reticular pattern on pulmonary HRCT Motif réticulaire sur la TDM pulmonaire OFFICIAL label of HP:0025390 (Reticular pattern on pulmonary HRCT) ; abnormality of the respiratory system en cs HP:0025390 rdfs:label Reticular pattern on pulmonary HRCT Retikulární obraz na HRCT plic OFFICIAL @@ -85222,8 +85222,8 @@ en tr HP:0025391 rdfs:label Crazy paving pattern Pulmoner YÇBT'de arnavut kald en zh HP:0025391 rdfs:label Crazy paving pattern 肺部HRCT可见铺石路状结构 OFFICIAL en ja HP:0025391 rdfs:label Crazy paving pattern クレイジーペービングパターン OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0025391 rdfs:label Crazy paving pattern "Patrón pulmonar ""en empedrado"" en la tomografía computada de alta resolución" CANDIDATE -en cs HP:0025392 IAO:0000115 A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter. Nodulární změny na výpočetné tomografii s vysokým rozlišením (HRCT) plic se vyznačuje přítomností četných zaoblených opacit, které jsou od 2 mm do 1 cm v průměru, v případě mikronodulů je nález definován průmerem menším než 3 mm. OFFICIAL -en tr HP:0025392 IAO:0000115 A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter. Nodüler bir kalıp, pulmoner yüksek çözünürlüklü bilgisayarlı tomografide, çapı 3 mm'den küçük olarak tanımlanmış miktonodüllerle çapları 2 mm'den 1 cm'ye kadar sayısız yuvarlaklaştırılan opasitenin varlığı ile karakterizedir CANDIDATE +en cs HP:0025392 IAO:0000115 A nodular pattern is characterized on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter. Nodulární změny na výpočetné tomografii s vysokým rozlišením (HRCT) plic se vyznačuje přítomností četných zaoblených opacit, které jsou od 2 mm do 1 cm v průměru, v případě mikronodulů je nález definován průmerem menším než 3 mm. CANDIDATE +en tr HP:0025392 IAO:0000115 A nodular pattern is characterized on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter. Nodüler bir kalıp, pulmoner yüksek çözünürlüklü bilgisayarlı tomografide, çapı 3 mm'den küçük olarak tanımlanmış miktonodüllerle çapları 2 mm'den 1 cm'ye kadar sayısız yuvarlaklaştırılan opasitenin varlığı ile karakterizedir CANDIDATE en nl HP:0025392 rdfs:label Nodular pattern on pulmonary HRCT Nodulair patroon op pulmonale HRCT CANDIDATE en fr HP:0025392 rdfs:label Nodular pattern on pulmonary HRCT Image nodulaire sur la TDM pulmonaire OFFICIAL label of HP:0025392 (Nodular pattern on pulmonary HRCT) ; abnormality of the respiratory system en cs HP:0025392 rdfs:label Nodular pattern on pulmonary HRCT Nodulární obraz na HRCT plic OFFICIAL @@ -86377,8 +86377,8 @@ en tr HP:0025530 rdfs:label Xanthomas of the palmar creases Palmar çizgilerin k en zh HP:0025530 rdfs:label Xanthomas of the palmar creases 手掌褶皱黄色瘤 OFFICIAL en ja HP:0025530 rdfs:label Xanthomas of the palmar creases 手掌皺黄色腫 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0025530 rdfs:label Xanthomas of the palmar creases Xantomas de los pliegues palmares OFFICIAL -en cs HP:0025531 IAO:0000115 The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body. Harlekýnský fenomén spočívá v náhlé změně barvy kůže, která má za následek dvě různé barvy těla, jednu na každé polovině těla. OFFICIAL -en tr HP:0025531 IAO:0000115 The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body. Her bir vücut yarısında iki farklı vücut rengi ile sonuçlanan deri renginde ani bir değişimi içeren Harlequin fenomeni OFFICIAL +en cs HP:0025531 IAO:0000115 The Harlequin phenomenon consists of a sudden change in skin color, resulting in two different body colors, one on each half of the body. Harlekýnský fenomén spočívá v náhlé změně barvy kůže, která má za následek dvě různé barvy těla, jednu na každé polovině těla. CANDIDATE +en tr HP:0025531 IAO:0000115 The Harlequin phenomenon consists of a sudden change in skin color, resulting in two different body colors, one on each half of the body. Her bir vücut yarısında iki farklı vücut rengi ile sonuçlanan deri renginde ani bir değişimi içeren Harlequin fenomeni CANDIDATE en nl HP:0025531 rdfs:label Harlequin phenomenon Harlekijnfenomeen CANDIDATE en fr HP:0025531 rdfs:label Harlequin phenomenon Phénomène arlequin OFFICIAL label of HP:0025531 (Harlequin phenomenon) ; abnormality of the integument en cs HP:0025531 rdfs:label Harlequin phenomenon Fenomén Harlekýn OFFICIAL @@ -86561,8 +86561,8 @@ en tr HP:0025558 rdfs:label Lamellar cataract with riders Destekli lamellar kata en zh HP:0025558 rdfs:label Lamellar cataract with riders 板层白内障（绕核白内障） OFFICIAL en ja HP:0025558 rdfs:label Lamellar cataract with riders ライダー白内障 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0025558 rdfs:label Lamellar cataract with riders "Cataratas lamelar con ""riders""" OFFICIAL -en cs HP:0025559 IAO:0000115 A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown. Typ katarakty charakterizovaný kyjovitými a bodovými opacitami umístěnými radiálně v kortexu. Tyto opacity obklopují jádro a výsledná vzhled připomíná korunu OFFICIAL -en tr HP:0025559 IAO:0000115 A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown. Derin kortekste ışınsal olarak dağılan çomak şekilli ve nokta opasiteleri ile karakterize bir katarakt tipi. Bu lens opasiteleri bir tacı andıran görünümde nükleusu çevreler OFFICIAL +en cs HP:0025559 IAO:0000115 A type of cataract characterized by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown. Typ katarakty charakterizovaný kyjovitými a bodovými opacitami umístěnými radiálně v kortexu. Tyto opacity obklopují jádro a výsledná vzhled připomíná korunu CANDIDATE +en tr HP:0025559 IAO:0000115 A type of cataract characterized by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown. Derin kortekste ışınsal olarak dağılan çomak şekilli ve nokta opasiteleri ile karakterize bir katarakt tipi. Bu lens opasiteleri bir tacı andıran görünümde nükleusu çevreler CANDIDATE en nl HP:0025559 rdfs:label Coronary cataract Coronair cataract CANDIDATE en fr HP:0025559 rdfs:label Coronary cataract Cataracte coronaire OFFICIAL label of HP:0025559 (Coronary cataract) ; abnormality of the eye en cs HP:0025559 rdfs:label Coronary cataract Koronární katarakta OFFICIAL @@ -86633,8 +86633,8 @@ en tr HP:0025566 rdfs:label Anterior chamber cells grade 4+ Ön kamara hücreler en zh HP:0025566 rdfs:label Anterior chamber cells grade 4+ 前房细胞等级4+ OFFICIAL en ja HP:0025566 rdfs:label Anterior chamber cells grade 4+ グレード4+の前房細胞 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0025566 rdfs:label Anterior chamber cells grade 4+ Celularidad en la cámara anterior grado 4+ OFFICIAL -en cs HP:0025567 IAO:0000115 An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the centre of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months. Anomálie sítnice se serózním odchlípením neurosenzorické sítnice sekundární k jedné nebo více fokálním lézím retinálního pigmentového epitelu (RPE) a spojená s rozmazaným viděním, obvykle pouze na jednom oku a pacientem obvykle vnímána jako tmavá skvrna středu zorného pole s přidruženou mikropsií a metamorfopsií. Normální vidění se často spontánně vrátí během několika měsíců. OFFICIAL -en tr HP:0025567 IAO:0000115 An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the centre of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months. Retina pigment epitelyumunun (RPE) bir veya daha fazla odak lezyonunda ortanca olan ve genellikle yalnızca bir gözde sadece bulutlu görme ile bağlantısı olan nörosensor retinanın serumlu dekolmanı ile retinanın anomalisi tipik olarak hasta tarafından mikroskop ve metamorfopsinin bağlantılı olduğu görme alanının merkezinde karanlık bir nokta olarak görülür. Normal görüş, birkaç ay içinde sıklıkla kendiliğinden tekrar eder CANDIDATE +en cs HP:0025567 IAO:0000115 An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the center of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months. Anomálie sítnice se serózním odchlípením neurosenzorické sítnice sekundární k jedné nebo více fokálním lézím retinálního pigmentového epitelu (RPE) a spojená s rozmazaným viděním, obvykle pouze na jednom oku a pacientem obvykle vnímána jako tmavá skvrna středu zorného pole s přidruženou mikropsií a metamorfopsií. Normální vidění se často spontánně vrátí během několika měsíců. CANDIDATE +en tr HP:0025567 IAO:0000115 An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the center of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months. Retina pigment epitelyumunun (RPE) bir veya daha fazla odak lezyonunda ortanca olan ve genellikle yalnızca bir gözde sadece bulutlu görme ile bağlantısı olan nörosensor retinanın serumlu dekolmanı ile retinanın anomalisi tipik olarak hasta tarafından mikroskop ve metamorfopsinin bağlantılı olduğu görme alanının merkezinde karanlık bir nokta olarak görülür. Normal görüş, birkaç ay içinde sıklıkla kendiliğinden tekrar eder CANDIDATE en nl HP:0025567 rdfs:label Central serous chorioretinopathy Centrale sereuze chorioretinopathie CANDIDATE en fr HP:0025567 rdfs:label Central serous chorioretinopathy Chorioretinopathie séreuse centrale OFFICIAL label of HP:0025567 (Central serous chorioretinopathy) ; abnormality of the eye en cs HP:0025567 rdfs:label Central serous chorioretinopathy Centrální serózní chorioretinopatie OFFICIAL @@ -86667,8 +86667,8 @@ en tr HP:0025570 rdfs:label Choroidal vascular hyperpermeability Koroidal vaskü en zh HP:0025570 rdfs:label Choroidal vascular hyperpermeability 脉络膜血管高通透状态 OFFICIAL en ja HP:0025570 rdfs:label Choroidal vascular hyperpermeability 脈絡膜血管透過性亢進症 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0025570 rdfs:label Choroidal vascular hyperpermeability Hiperpermeabilidad vascular coroidea OFFICIAL -en cs HP:0025571 IAO:0000115 A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree. Typ šedého zákalu, který vykazuje velkolepé zobrazení mnoha barev, jež se třpytí při změně dopadajícího světla jako osvětlený vánoční stromek. OFFICIAL -en tr HP:0025571 IAO:0000115 A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree. Işıklandırılmış yılbaşı ağacı gibi parıldayan birden fazla muhteşem renkler gösteren bir katarakt tipi OFFICIAL +en cs HP:0025571 IAO:0000115 A type of cataract that shows a spectacular display of multiple colors that glitters with the change of incident light like an illuminated Christmas tree. Typ šedého zákalu, který vykazuje velkolepé zobrazení mnoha barev, jež se třpytí při změně dopadajícího světla jako osvětlený vánoční stromek. CANDIDATE +en tr HP:0025571 IAO:0000115 A type of cataract that shows a spectacular display of multiple colors that glitters with the change of incident light like an illuminated Christmas tree. Işıklandırılmış yılbaşı ağacı gibi parıldayan birden fazla muhteşem renkler gösteren bir katarakt tipi CANDIDATE en nl HP:0025571 rdfs:label Christmas tree cataract Kerstboom cataract CANDIDATE en fr HP:0025571 rdfs:label Christmas tree cataract Cataracte en arbre de Noël OFFICIAL label of HP:0025571 (Christmas tree cataract) ; abnormality of the eye en cs HP:0025571 rdfs:label Christmas tree cataract Stromečkovitá katarakta OFFICIAL @@ -87333,7 +87333,7 @@ en cs HP:0025678 rdfs:label Fetal hydrothorax Fetální hydrotorax CANDIDATE en zh HP:0025678 rdfs:label Fetal hydrothorax 胎儿胸腔积液 OFFICIAL en ja HP:0025678 rdfs:label Fetal hydrothorax 胎児水胸 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0025678 rdfs:label Fetal hydrothorax Hidrotórax fetal OFFICIAL -en cs HP:0025679 IAO:0000115 Inflammation of an intervertebral disc or disk space. Zánět meziobratlové ploténky CANDIDATE +en cs HP:0025679 IAO:0000115 Inflammation of an intervertebral disk or disk space. Zánět meziobratlové ploténky CANDIDATE en cs HP:0025679 rdfs:label Diskitis Discitida CANDIDATE en zh HP:0025679 rdfs:label Diskitis 关节盘炎 OFFICIAL en ja HP:0025679 rdfs:label Diskitis 円板炎 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT @@ -87448,17 +87448,17 @@ en cs HP:0025701 rdfs:label Distended jugular lymphatic sacs Distendované jugul en zh HP:0025701 rdfs:label Distended jugular lymphatic sacs 颈静脉淋巴囊扩张 OFFICIAL en ja HP:0025701 rdfs:label Distended jugular lymphatic sacs 頚静脈リンパ嚢腫 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0025701 rdfs:label Distended jugular lymphatic sacs Sacos linfáticos yugulares agrandados OFFICIAL -en cs HP:0025702 IAO:0000115 A type of Schizencephaly in which there is a trans-mantle column of abnormal grey matter but no evidence of a CSF-containing cleft on MR imaging. Typ schizencefalie, u kterého je příčný sloupec abnormální šedé hmoty, ale na zobrazení MR není patrný rozštěp obsahující mozkomíšní mok. CANDIDATE +en cs HP:0025702 IAO:0000115 A type of Schizencephaly in which there is a trans-mantle column of abnormal gray matter but no evidence of a CSF-containing cleft on MR imaging. Typ schizencefalie, u kterého je příčný sloupec abnormální šedé hmoty, ale na zobrazení MR není patrný rozštěp obsahující mozkomíšní mok. CANDIDATE en cs HP:0025702 rdfs:label Type 1 schizencephaly Schizencefalie typ I CANDIDATE en zh HP:0025702 rdfs:label Type 1 schizencephaly 1型脑裂畸形 OFFICIAL en ja HP:0025702 rdfs:label Type 1 schizencephaly 1型統合失調症 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0025702 rdfs:label Type 1 schizencephaly Esquizencefalia tipo 1 OFFICIAL -en cs HP:0025703 IAO:0000115 A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal grey matter that are opposed to each other. Typ schizencefalie, při níž je přítomna rozštěpová štěrbina obsahující mozkomíšní mok s přiléhajícími lemujícími okraji abnormální šedé hmoty, které jsou proti sobě. CANDIDATE +en cs HP:0025703 IAO:0000115 A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal gray matter that are opposed to each other. Typ schizencefalie, při níž je přítomna rozštěpová štěrbina obsahující mozkomíšní mok s přiléhajícími lemujícími okraji abnormální šedé hmoty, které jsou proti sobě. CANDIDATE en cs HP:0025703 rdfs:label Type 2 schizencephaly Schizencefalie typ II CANDIDATE en zh HP:0025703 rdfs:label Type 2 schizencephaly 2型脑裂畸形 OFFICIAL en ja HP:0025703 rdfs:label Type 2 schizencephaly 2型統合失調症 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0025703 rdfs:label Type 2 schizencephaly Esquizencefalia tipo 2 OFFICIAL -en cs HP:0025704 IAO:0000115 A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal grey matter. Typ schizencefalie, při níž je přítomna rozštěpová štěrbina obsahující mozkomíšní mok s nepřiléhajícími výstelkovými lištami abnormální šedé hmoty. CANDIDATE +en cs HP:0025704 IAO:0000115 A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal gray matter. Typ schizencefalie, při níž je přítomna rozštěpová štěrbina obsahující mozkomíšní mok s nepřiléhajícími výstelkovými lištami abnormální šedé hmoty. CANDIDATE en cs HP:0025704 rdfs:label Type 3 schizencephaly Schizencefalie typ III CANDIDATE en zh HP:0025704 rdfs:label Type 3 schizencephaly 3型脑裂畸形 OFFICIAL en ja HP:0025704 rdfs:label Type 3 schizencephaly 3型統合失調症 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT @@ -89913,13 +89913,13 @@ en ja HP:0030271 rdfs:label Reduced erythrocyte 2,3-diphosphoglycerate concentra en es HP:0030271 rdfs:label Reduced erythrocyte 2,3-diphosphoglycerate concentration Disminución de la concentración de 2,3-difosfoglicerato de eritrocitos OFFICIAL en cs HP:0030272 IAO:0000115 An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme. Změněná schopnost jakéhokoli enzymu působit jako katalyzátor v erytrocytech. Tento termín zahrnuje změny způsobené změněnou hladinou enzymu. CANDIDATE en tr HP:0030272 IAO:0000115 An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme. Eritrositler içinde katalist olarak davranan herhangi bir enzimin değiştirilmiş yeteneği. Bu terim bir enzimin değiştirilmiş seviyeleri nedeniyle olan değişiklikleri içerir CANDIDATE -en nl HP:0030272 rdfs:label Abnormal erythrocyte enzyme level Afwijjkende erytrocyt enzym activiteit CANDIDATE -en fr HP:0030272 rdfs:label Abnormal erythrocyte enzyme level Activité enzymatique érythrocytaire anormale CANDIDATE label of HP:0030272 (Abnormal erythrocyte enzyme activity) ; abnormality of metabolism/homeostasis ; abnormality of blood and blood-forming tissues -en cs HP:0030272 rdfs:label Abnormal erythrocyte enzyme level Abnormální hladina erytrocytárních enzymů OFFICIAL -en tr HP:0030272 rdfs:label Abnormal erythrocyte enzyme level Anormal eritrosit enzim aktivitesi CANDIDATE -en zh HP:0030272 rdfs:label Abnormal erythrocyte enzyme level 红细胞酶水平异常 OFFICIAL -en ja HP:0030272 rdfs:label Abnormal erythrocyte enzyme level 赤血球酵素濃度異常 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT -en es HP:0030272 rdfs:label Abnormal erythrocyte enzyme level Actividad enzimática eritrocítica anormal CANDIDATE +en nl HP:0030272 rdfs:label Abnormal erythrocyte enzyme concentration or activity Afwijjkende erytrocyt enzym activiteit CANDIDATE +en fr HP:0030272 rdfs:label Abnormal erythrocyte enzyme concentration or activity Activité enzymatique érythrocytaire anormale CANDIDATE label of HP:0030272 (Abnormal erythrocyte enzyme activity) ; abnormality of metabolism/homeostasis ; abnormality of blood and blood-forming tissues +en cs HP:0030272 rdfs:label Abnormal erythrocyte enzyme concentration or activity Abnormální hladina erytrocytárních enzymů CANDIDATE +en tr HP:0030272 rdfs:label Abnormal erythrocyte enzyme concentration or activity Anormal eritrosit enzim aktivitesi CANDIDATE +en zh HP:0030272 rdfs:label Abnormal erythrocyte enzyme concentration or activity 红细胞酶水平异常 CANDIDATE +en ja HP:0030272 rdfs:label Abnormal erythrocyte enzyme concentration or activity 赤血球酵素濃度異常 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT +en es HP:0030272 rdfs:label Abnormal erythrocyte enzyme concentration or activity Actividad enzimática eritrocítica anormal CANDIDATE en cs HP:0030273 IAO:0000115 Decrease in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine. Snížení aktivity adenosindeaminázy (ADA), enzymu zapojeného v purinovém metabolismu, v erytrocytech. ADA katabolizuje adenosin. CANDIDATE en tr HP:0030273 IAO:0000115 Decrease in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine. Pürin metabolizmasında rol oynayan bir enzim olan adenozin deaminaz (ADA) aktivitesinde eritrositler içinde azalma. ADA, adenozin katabolizmasında yer alır CANDIDATE en nl HP:0030273 rdfs:label Reduced red cell adenosine deaminase level Verminderde rode cel adenosine deaminase activiteit CANDIDATE @@ -90118,13 +90118,13 @@ en ja HP:0030298 rdfs:label Metaphyseal chondromatosis of humerus 上腕骨骨 en es HP:0030298 rdfs:label Metaphyseal chondromatosis of humerus Condromatosis metafisaria del húmero OFFICIAL en cs HP:0030299 IAO:0000115 An anomaly of the metaphysis of the distal femur (close to the knee). Anomálie metafýzy distálního femuru (části blízko u kolena) OFFICIAL en tr HP:0030299 IAO:0000115 An anomaly of the metaphysis of the distal femur (close to the knee). Distal femurun (dize yakın) metafizinin bir anomalisi OFFICIAL -en nl HP:0030299 rdfs:label Distal femoral metaphyseal abnormality Distale femorale metafysaire afwijking CANDIDATE -en fr HP:0030299 rdfs:label Distal femoral metaphyseal abnormality Anomalie de la métaphyse du fémur distal OFFICIAL label of HP:0030299 (Distal femoral metaphyseal abnormality) ; abnormality of limbs ; abnormality of the skeletal system -en cs HP:0030299 rdfs:label Distal femoral metaphyseal abnormality Abnormalita distální femorální metafýzy OFFICIAL -en tr HP:0030299 rdfs:label Distal femoral metaphyseal abnormality Distal femoral metafizyal anormallik OFFICIAL -en zh HP:0030299 rdfs:label Distal femoral metaphyseal abnormality 股骨远侧干骺端异常 OFFICIAL -en ja HP:0030299 rdfs:label Distal femoral metaphyseal abnormality 大腿骨遠位骨幹部異常症 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT -en es HP:0030299 rdfs:label Distal femoral metaphyseal abnormality Anomalía metafisaria femoral distal OFFICIAL +en nl HP:0030299 rdfs:label Abnormal distal femoral metaphysis morphology Distale femorale metafysaire afwijking CANDIDATE +en fr HP:0030299 rdfs:label Abnormal distal femoral metaphysis morphology Anomalie de la métaphyse du fémur distal CANDIDATE label of HP:0030299 (Distal femoral metaphyseal abnormality) ; abnormality of limbs ; abnormality of the skeletal system +en cs HP:0030299 rdfs:label Abnormal distal femoral metaphysis morphology Abnormalita distální femorální metafýzy CANDIDATE +en tr HP:0030299 rdfs:label Abnormal distal femoral metaphysis morphology Distal femoral metafizyal anormallik CANDIDATE +en zh HP:0030299 rdfs:label Abnormal distal femoral metaphysis morphology 股骨远侧干骺端异常 CANDIDATE +en ja HP:0030299 rdfs:label Abnormal distal femoral metaphysis morphology 大腿骨遠位骨幹部異常症 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT +en es HP:0030299 rdfs:label Abnormal distal femoral metaphysis morphology Anomalía metafisaria femoral distal CANDIDATE en cs HP:0030300 IAO:0000115 Presence of only 10 (instead of the usual 12) pairs of ribs. Přítomnost jenom 10 (namísto obvyklých 12) párů žeber OFFICIAL en tr HP:0030300 IAO:0000115 Presence of only 10 (instead of the usual 12) pairs of ribs. Sadece 10 çift kaburga (olağan 12 yerine) varlığı OFFICIAL en nl HP:0030300 rdfs:label 10 pairs of ribs 10 paar ribben CANDIDATE @@ -90271,8 +90271,8 @@ en tr HP:0030319 rdfs:label Weakness of facial musculature Yüz kas sisteminin z en zh HP:0030319 rdfs:label Weakness of facial musculature 面部肌肉无力 OFFICIAL en ja HP:0030319 rdfs:label Weakness of facial musculature 顔面筋の筋力低下 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0030319 rdfs:label Weakness of facial musculature Debilidad de la musculatura facial OFFICIAL -en cs HP:0030320 IAO:0000115 An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space. Zvětšení vertikální vzdálenosti mezi přilehlými obratlovými těly, pozorované jako zvětšení vzdálenosti meziobratlových plotének OFFICIAL -en tr HP:0030320 IAO:0000115 An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space. İntervertebral disk boşluğunda bir artış olarak gözlemlenen, bitişik vertebral cisimler arasında vertikal mesafede bir artış OFFICIAL +en cs HP:0030320 IAO:0000115 An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disk space. Zvětšení vertikální vzdálenosti mezi přilehlými obratlovými těly, pozorované jako zvětšení vzdálenosti meziobratlových plotének CANDIDATE +en tr HP:0030320 IAO:0000115 An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disk space. İntervertebral disk boşluğunda bir artış olarak gözlemlenen, bitişik vertebral cisimler arasında vertikal mesafede bir artış CANDIDATE en nl HP:0030320 rdfs:label Increased intervertebral space Toegenomen intervertebrale ruimte CANDIDATE en fr HP:0030320 rdfs:label Increased intervertebral space Augmentation de l'espace intervertébral OFFICIAL label of HP:0030320 (Increased intervertebral space) ; abnormality of the skeletal system en cs HP:0030320 rdfs:label Increased intervertebral space Zvětšený meziobratlový prostor OFFICIAL @@ -90542,15 +90542,15 @@ en tr HP:0030353 rdfs:label Decreased serum insulin-like growth factor 1 Azalmı en zh HP:0030353 rdfs:label Decreased serum insulin-like growth factor 1 血清胰岛素样生长因子-1（IGF1）水平降低 OFFICIAL en ja HP:0030353 rdfs:label Decreased serum insulin-like growth factor 1 血清インスリン様成長因子1の減少 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0030353 rdfs:label Decreased serum insulin-like growth factor 1 Disminución sérica del IGF1 OFFICIAL -en cs HP:0030354 IAO:0000115 Abnormal levels of interferon in the blood. Abnormální hladiny interferonu v krvi OFFICIAL -en tr HP:0030354 IAO:0000115 Abnormal levels of interferon in the blood. Kanda anormal interferon seviyeleri OFFICIAL -en nl HP:0030354 rdfs:label Abnormal circulating interferon concentration Afwijkend serum interferon niveau CANDIDATE -en fr HP:0030354 rdfs:label Abnormal circulating interferon concentration Taux anormal d'interféron sérique CANDIDATE label of HP:0030354 (Abnormal serum interferon level) ; abnormality of the immune system -en cs HP:0030354 rdfs:label Abnormal circulating interferon concentration Abnormální koncentrace cirkulujícího interferonu CANDIDATE -en tr HP:0030354 rdfs:label Abnormal circulating interferon concentration Anormal serum interferon seviyesi CANDIDATE -en zh HP:0030354 rdfs:label Abnormal circulating interferon concentration 血清干扰素水平异常 CANDIDATE -en ja HP:0030354 rdfs:label Abnormal circulating interferon concentration 循環インターフェロン濃度異常 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT -en es HP:0030354 rdfs:label Abnormal circulating interferon concentration Nivel sérico anormal de interferón CANDIDATE +en cs HP:0030354 IAO:0000115 Abnormal levels of interferon in the blood Abnormální hladiny interferonu v krvi OFFICIAL +en tr HP:0030354 IAO:0000115 Abnormal levels of interferon in the blood Kanda anormal interferon seviyeleri OFFICIAL +en nl HP:0030354 rdfs:label obsolete Abnormal circulating interferon concentration Afwijkend serum interferon niveau CANDIDATE +en fr HP:0030354 rdfs:label obsolete Abnormal circulating interferon concentration Taux anormal d'interféron sérique CANDIDATE label of HP:0030354 (Abnormal serum interferon level) ; abnormality of the immune system +en cs HP:0030354 rdfs:label obsolete Abnormal circulating interferon concentration Abnormální koncentrace cirkulujícího interferonu CANDIDATE +en tr HP:0030354 rdfs:label obsolete Abnormal circulating interferon concentration Anormal serum interferon seviyesi CANDIDATE +en zh HP:0030354 rdfs:label obsolete Abnormal circulating interferon concentration 血清干扰素水平异常 CANDIDATE +en ja HP:0030354 rdfs:label obsolete Abnormal circulating interferon concentration 循環インターフェロン濃度異常 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT +en es HP:0030354 rdfs:label obsolete Abnormal circulating interferon concentration Nivel sérico anormal de interferón CANDIDATE en cs HP:0030355 IAO:0000115 Abnormal levels of interferon gamma measured in the blood circulation. Abnormální hladiny interferonu gamma měřené v krevním oběhu OFFICIAL en tr HP:0030355 IAO:0000115 Abnormal levels of interferon gamma measured in the blood circulation. Kan dolaşımında ölçülen anormal interferon gama seviyeleri OFFICIAL en nl HP:0030355 rdfs:label Abnormal circulating interferon-gamma concentration Afwijkend serum interferon-gamma niveau CANDIDATE @@ -91674,8 +91674,8 @@ en tr HP:0030496 rdfs:label Macular exudate Maküler eksüdat OFFICIAL en zh HP:0030496 rdfs:label Macular exudate 黄斑渗出 OFFICIAL en ja HP:0030496 rdfs:label Macular exudate 黄斑滲出液 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0030496 rdfs:label Macular exudate Exudado macular OFFICIAL -en cs HP:0030497 IAO:0000115 Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. Načechraná bílá skvrna na makule, která představuje lokalizované denzní oblasti bělavého otoku nervových vláken sítnice. Často mají klikatou strukturu, nerovný okraj, ale jinak jsou dobře ohraničené a velikost přibližně 1 mm; mírně vystupují do sklivce a někdy vychylují cévy sítnice. OFFICIAL -en tr HP:0030497 IAO:0000115 Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. Retina sinir lif tabakasının yoğun olduğu bölgelerede beyaz şişmelerin meydana geldiği lokalize bölgeleri temsil eden, maküla dokusu üzerindeki yumuşak ve beyaz bir lekedir. Genellikle iç yapısı zikzaklar, tüylü bir kenara sahiptir, ters yöne doğru iyi çizilmiş bir formdadır ve yaklaşık 1 mm boyuta sahiptirler; vitreusa hafifçe yansıyıp bazen retinal damarları saptırırlar CANDIDATE +en cs HP:0030497 IAO:0000115 Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fiber layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. Načechraná bílá skvrna na makule, která představuje lokalizované denzní oblasti bělavého otoku nervových vláken sítnice. Často mají klikatou strukturu, nerovný okraj, ale jinak jsou dobře ohraničené a velikost přibližně 1 mm; mírně vystupují do sklivce a někdy vychylují cévy sítnice. CANDIDATE +en tr HP:0030497 IAO:0000115 Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fiber layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. Retina sinir lif tabakasının yoğun olduğu bölgelerede beyaz şişmelerin meydana geldiği lokalize bölgeleri temsil eden, maküla dokusu üzerindeki yumuşak ve beyaz bir lekedir. Genellikle iç yapısı zikzaklar, tüylü bir kenara sahiptir, ters yöne doğru iyi çizilmiş bir formdadır ve yaklaşık 1 mm boyuta sahiptirler; vitreusa hafifçe yansıyıp bazen retinal damarları saptırırlar CANDIDATE en fr HP:0030497 rdfs:label Macular cotton wool spot Tâche de coton maculaire OFFICIAL label of HP:0030497 (Macular cotton wool spot) ; abnormality of the eye en cs HP:0030497 rdfs:label Macular cotton wool spot Vatovitá skvrna na makule OFFICIAL en tr HP:0030497 rdfs:label Macular cotton wool spot Maküler pamuk noktası OFFICIAL @@ -92669,8 +92669,8 @@ en tr HP:0030636 rdfs:label Occult macular dystrophy Gizli maküler distrofi OFF en zh HP:0030636 rdfs:label Occult macular dystrophy 隐匿性黄斑营养不良 OFFICIAL en ja HP:0030636 rdfs:label Occult macular dystrophy 潜行性黄斑ジストロフィー OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0030636 rdfs:label Occult macular dystrophy Distrofia macular oculta OFFICIAL -en cs HP:0030637 IAO:0000115 Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia. Fenotyp sítnice charakterizovaný dysfunkcí fotoreceptorů čípků a zachovaným systémem tyčinek. Abnormalita je typicky stacionární nebo velmi pomalu progredující a nálezy mohou zahrnovat oslabené centrální vidění, abnormality barevného vidění, nystagmus a fotofobii. OFFICIAL -en tr HP:0030637 IAO:0000115 Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia. Retinal fenotip koni fotoreseptör disfonksiyonu ve korunmuş çubuk sistemi ile karakterizedir. Anormallik tipik olarak geçicidir veya çok yavaş olarak ilerler ve bulgular azalmış merkezi görme, renk görme anormallikleri, nistagmus ve fotofobi içerebilir OFFICIAL +en cs HP:0030637 IAO:0000115 Retinal phenotype characterized by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, color vision abnormalities, nystagmus and photophobia. Fenotyp sítnice charakterizovaný dysfunkcí fotoreceptorů čípků a zachovaným systémem tyčinek. Abnormalita je typicky stacionární nebo velmi pomalu progredující a nálezy mohou zahrnovat oslabené centrální vidění, abnormality barevného vidění, nystagmus a fotofobii. CANDIDATE +en tr HP:0030637 IAO:0000115 Retinal phenotype characterized by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, color vision abnormalities, nystagmus and photophobia. Retinal fenotip koni fotoreseptör disfonksiyonu ve korunmuş çubuk sistemi ile karakterizedir. Anormallik tipik olarak geçicidir veya çok yavaş olarak ilerler ve bulgular azalmış merkezi görme, renk görme anormallikleri, nistagmus ve fotofobi içerebilir CANDIDATE en fr HP:0030637 rdfs:label Congenital stationary cone dysfunction Dysfonctionnement congénital du cône stationnaire OFFICIAL label of HP:0030637 (Congenital stationary cone dysfunction) ; abnormality of the eye en cs HP:0030637 rdfs:label Congenital stationary cone dysfunction Vrozená stacionární dysfunkce čípků OFFICIAL en tr HP:0030637 rdfs:label Congenital stationary cone dysfunction Koni disfonksiyon sendromu OFFICIAL @@ -92870,8 +92870,8 @@ en tr HP:0030663 rdfs:label Optically empty vitreous Optik olarak boş vitröz O en zh HP:0030663 rdfs:label Optically empty vitreous 光空型玻璃体 OFFICIAL en ja HP:0030663 rdfs:label Optically empty vitreous 光学的に空の硝子体 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0030663 rdfs:label Optically empty vitreous Vítreo vacío ópticamente OFFICIAL -en cs HP:0030664 IAO:0000115 Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus. Slabost dolní části přímého břišního svalu, která se klinicky zjišťuje takto. Když se pacient posadí nebo zvedne hlavu z polohy vleže, pupek se posune směrem k hlavě. Je to důsledek ochrnutí dolní části přímého břišního svalu, takže převažují horní vlákna, která táhnou pupek vzhůru. OFFICIAL -en tr HP:0030664 IAO:0000115 Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus. Rektus karın kasının alt kısmının zayıflığı klinik olarak aşağıdaki gibi tespit edilir. Hasta ayağa kalktığında veya dinlendiği pozisyondan kafasını kaldırdığında göbek deliği başa doğru yer değiştirir. Bu, rektus karın kasının alt kısmının felce uğramasının sonucudur, böylece göbek deliğini yukarı doğru çeken üst lifler baskın olur CANDIDATE +en cs HP:0030664 IAO:0000115 Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibers predominate pulling upwards the umbilicus. Slabost dolní části přímého břišního svalu, která se klinicky zjišťuje takto. Když se pacient posadí nebo zvedne hlavu z polohy vleže, pupek se posune směrem k hlavě. Je to důsledek ochrnutí dolní části přímého břišního svalu, takže převažují horní vlákna, která táhnou pupek vzhůru. CANDIDATE +en tr HP:0030664 IAO:0000115 Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibers predominate pulling upwards the umbilicus. Rektus karın kasının alt kısmının zayıflığı klinik olarak aşağıdaki gibi tespit edilir. Hasta ayağa kalktığında veya dinlendiği pozisyondan kafasını kaldırdığında göbek deliği başa doğru yer değiştirir. Bu, rektus karın kasının alt kısmının felce uğramasının sonucudur, böylece göbek deliğini yukarı doğru çeken üst lifler baskın olur CANDIDATE en fr HP:0030664 rdfs:label Beevor's sign Signe de Beevor OFFICIAL label of HP:0030664 (Beevor's sign) ; abnormality of the musculature ; abnormality of the digestive system en cs HP:0030664 rdfs:label Beevor's sign Beevorovo znamení OFFICIAL en tr HP:0030664 rdfs:label Beevor's sign Beevor işareti OFFICIAL @@ -93000,8 +93000,8 @@ en tr HP:0030679 rdfs:label Ash-leaf spot Diş budak yaprağı leke OFFICIAL en zh HP:0030679 rdfs:label Ash-leaf spot 灰叶状白斑 OFFICIAL en ja HP:0030679 rdfs:label Ash-leaf spot 灰白斑 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0030679 rdfs:label Ash-leaf spot Mácula de ceniza OFFICIAL -en cs HP:0030680 IAO:0000115 Any structural anomaly of the heart and great vessels. Jakákoli strukturální anomálie srdce a velkých cév. OFFICIAL -en tr HP:0030680 IAO:0000115 Any structural anomaly of the heart and great vessels. Kalp ve büyük damarlarının herhangi bir yapısal anomalisi CANDIDATE +en cs HP:0030680 IAO:0000115 Any structural anomaly of the heart and blood vessels. Jakákoli strukturální anomálie srdce a velkých cév. CANDIDATE +en tr HP:0030680 IAO:0000115 Any structural anomaly of the heart and blood vessels. Kalp ve büyük damarlarının herhangi bir yapısal anomalisi CANDIDATE en fr HP:0030680 rdfs:label Abnormal cardiovascular system morphology Anomalie morphologique du système cardiovasculaire CANDIDATE label of HP:0030680 (Abnormality of cardiovascular system morphology) ; abnormality of the cardiovascular system en cs HP:0030680 rdfs:label Abnormal cardiovascular system morphology Abnormalita morfologie kardiovaskulární soustavy CANDIDATE en tr HP:0030680 rdfs:label Abnormal cardiovascular system morphology Kardiyovasküler sistem morfolojisi anormalliği CANDIDATE @@ -93208,8 +93208,8 @@ en tr HP:0030714 rdfs:label Subchorionic thrombohematoma Subkronik trombohematom en zh HP:0030714 rdfs:label Subchorionic thrombohematoma 绒毛膜下血栓血肿 OFFICIAL en ja HP:0030714 rdfs:label Subchorionic thrombohematoma 絨毛膜下血腫 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0030714 rdfs:label Subchorionic thrombohematoma Trombohematoma subcoriónico OFFICIAL -en cs HP:0030715 IAO:0000115 A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis. Vývojová anomálie charakterizovaná fokální obliterací proximálního segmentu bronchu. Průdušky jsou distálně od místa stenózy zcela normální. OFFICIAL -en tr HP:0030715 IAO:0000115 A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis. Bir bronşun proksimal segmentinin fokal obliterasyonu ile karakterize bir gelişimsel anomali. Bronşiyal patern stenoz kısmının distalinde tamamen normaldir OFFICIAL +en cs HP:0030715 IAO:0000115 A developmental anomaly characterized by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis. Vývojová anomálie charakterizovaná fokální obliterací proximálního segmentu bronchu. Průdušky jsou distálně od místa stenózy zcela normální. CANDIDATE +en tr HP:0030715 IAO:0000115 A developmental anomaly characterized by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis. Bir bronşun proksimal segmentinin fokal obliterasyonu ile karakterize bir gelişimsel anomali. Bronşiyal patern stenoz kısmının distalinde tamamen normaldir CANDIDATE en nl HP:0030715 rdfs:label Bronchial atresia Bronchiale atresie CANDIDATE en fr HP:0030715 rdfs:label Bronchial atresia Atrésie bronchique OFFICIAL label of HP:0030715 (Bronchial atresia) ; abnormality of the respiratory system en cs HP:0030715 rdfs:label Bronchial atresia Bronchiální atrézie OFFICIAL @@ -93771,14 +93771,14 @@ en tr HP:0030781 rdfs:label Increased circulating free fatty acid level Dolaşı en zh HP:0030781 rdfs:label Increased circulating free fatty acid level 循环系统内游离脂肪酸水平增高 OFFICIAL en ja HP:0030781 rdfs:label Increased circulating free fatty acid level 循環遊離脂肪酸値の上昇 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0030781 rdfs:label Increased circulating free fatty acid level Aumento del nivel de ácidos grasos libres circulantes OFFICIAL -en cs HP:0030782 IAO:0000115 An abnormal amount of any of the interleukins, a class of cytokines, in the circulation. Abnormální množství některého z interleukinů, skupiny cytokinů, v oběhu OFFICIAL -en tr HP:0030782 IAO:0000115 An abnormal amount of any of the interleukins, a class of cytokines, in the circulation. Bir sitokin sınıfı olan herhangi interlökinin dolaşımdaki anormal bir miktarı OFFICIAL -en fr HP:0030782 rdfs:label Abnormal circulating interleukin concentration Taux anormal d'interleukine sérique CANDIDATE label of HP:0030782 (Abnormal serum interleukin level) ; abnormality of the immune system -en cs HP:0030782 rdfs:label Abnormal circulating interleukin concentration Abnormální sérová hladina interleukinu CANDIDATE -en tr HP:0030782 rdfs:label Abnormal circulating interleukin concentration Anormal serum interlökin seviyesi CANDIDATE -en zh HP:0030782 rdfs:label Abnormal circulating interleukin concentration 循环白介素水平异常 OFFICIAL -en ja HP:0030782 rdfs:label Abnormal circulating interleukin concentration 循環インターロイキン濃度異常 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT -en es HP:0030782 rdfs:label Abnormal circulating interleukin concentration Nivel anormal de interleukina sérica CANDIDATE +en cs HP:0030782 IAO:0000115 An abnormal amount of any of the interleukins, a class of cytokines, in the circulation Abnormální množství některého z interleukinů, skupiny cytokinů, v oběhu OFFICIAL +en tr HP:0030782 IAO:0000115 An abnormal amount of any of the interleukins, a class of cytokines, in the circulation Bir sitokin sınıfı olan herhangi interlökinin dolaşımdaki anormal bir miktarı OFFICIAL +en fr HP:0030782 rdfs:label obsolete Abnormal circulating interleukin concentration Taux anormal d'interleukine sérique CANDIDATE label of HP:0030782 (Abnormal serum interleukin level) ; abnormality of the immune system +en cs HP:0030782 rdfs:label obsolete Abnormal circulating interleukin concentration Abnormální sérová hladina interleukinu CANDIDATE +en tr HP:0030782 rdfs:label obsolete Abnormal circulating interleukin concentration Anormal serum interlökin seviyesi CANDIDATE +en zh HP:0030782 rdfs:label obsolete Abnormal circulating interleukin concentration 循环白介素水平异常 CANDIDATE +en ja HP:0030782 rdfs:label obsolete Abnormal circulating interleukin concentration 循環インターロイキン濃度異常 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT +en es HP:0030782 rdfs:label obsolete Abnormal circulating interleukin concentration Nivel anormal de interleukina sérica CANDIDATE en cs HP:0030783 IAO:0000115 The concentration of interleukin-6 in the blood circulation is above the upper limit of normal. Zvýšená koncentrace interleukinu 6 v krevním oběhu CANDIDATE en tr HP:0030783 IAO:0000115 The concentration of interleukin-6 in the blood circulation is above the upper limit of normal. Dolaşımda artmış interlökin 6 konsantrasyonu CANDIDATE en nl HP:0030783 rdfs:label Increased circulating interleukin 6 concentration Verhoogd serum Interleukine-6 CANDIDATE @@ -96424,15 +96424,15 @@ en tr HP:0031099 rdfs:label Abnormal circulating inhibin level Dolaşımda anorm en zh HP:0031099 rdfs:label Abnormal circulating inhibin level 循环抑制素水平异常 OFFICIAL en ja HP:0031099 rdfs:label Abnormal circulating inhibin level 循環インヒビン値異常 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0031099 rdfs:label Abnormal circulating inhibin level Nivel de inhibina circulante anormal OFFICIAL -en cs HP:0031100 IAO:0000115 A reduced concentration of inhibin B in the blood. Snížená koncentrace inhibinu B v krvi OFFICIAL -en tr HP:0031100 IAO:0000115 A reduced concentration of inhibin B in the blood. Kanda azalmış inhibin B konsantrasyonu OFFICIAL -en nl HP:0031100 rdfs:label Decreased inhibin B level Verlaagd inhibine B niveau CANDIDATE -en fr HP:0031100 rdfs:label Decreased inhibin B level Diminution du taux d'inhibine B OFFICIAL label of HP:0031100 (Decreased inhibin B level) ; abnormality of the endocrine system -en cs HP:0031100 rdfs:label Decreased inhibin B level Snížená hladina inhibinu B OFFICIAL -en tr HP:0031100 rdfs:label Decreased inhibin B level Azalmış inhibin B seviyesi OFFICIAL -en zh HP:0031100 rdfs:label Decreased inhibin B level 抑制素B水平降低 OFFICIAL -en ja HP:0031100 rdfs:label Decreased inhibin B level インヒビンB値の低下 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT -en es HP:0031100 rdfs:label Decreased inhibin B level Disminución del nivel de inhibina B OFFICIAL +en cs HP:0031100 IAO:0000115 The concentration of inhibin B in the blood circulation is below the lower limit of normal. Snížená koncentrace inhibinu B v krvi CANDIDATE +en tr HP:0031100 IAO:0000115 The concentration of inhibin B in the blood circulation is below the lower limit of normal. Kanda azalmış inhibin B konsantrasyonu CANDIDATE +en nl HP:0031100 rdfs:label Decreased circulating inhibin B concentration Verlaagd inhibine B niveau CANDIDATE +en fr HP:0031100 rdfs:label Decreased circulating inhibin B concentration Diminution du taux d'inhibine B CANDIDATE label of HP:0031100 (Decreased inhibin B level) ; abnormality of the endocrine system +en cs HP:0031100 rdfs:label Decreased circulating inhibin B concentration Snížená hladina inhibinu B CANDIDATE +en tr HP:0031100 rdfs:label Decreased circulating inhibin B concentration Azalmış inhibin B seviyesi CANDIDATE +en zh HP:0031100 rdfs:label Decreased circulating inhibin B concentration 抑制素B水平降低 CANDIDATE +en ja HP:0031100 rdfs:label Decreased circulating inhibin B concentration インヒビンB値の低下 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT +en es HP:0031100 rdfs:label Decreased circulating inhibin B concentration Disminución del nivel de inhibina B CANDIDATE en cs HP:0031101 IAO:0000115 Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases. Jakákoli odchylka od normálního rozmezí antimülleriánského hormonu, peptidu produkovaného buňkami granulózy folikulů. Antimülleriánský hormon (AMH), známý také jako Mülleriánská inhibiční látka, je produkován granulózovými buňkami malých antrálních folikulů vaječníku. AMH má ve vaječníku inhibiční úlohu a přispívá k inhibici folikulů. Hladiny AMH jsou u žen do 8 let věku nízké, do puberty rychle stoupají a od 25 let věku postupně klesají až do menopauzy, kdy produkce AMH ustává. OFFICIAL en tr HP:0031101 IAO:0000115 Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases. Folliküllerin granüloza hücreleri tarafından üretilen bir peptid olan, antimüller hormonun normal aralığındaki herhangi bir deviasyon. Müllerian inhibe edici madde olarak da bilinen anti-Müller hormon (AMH) yumurtalıktaki küçük antral foliküllerin granüloza hücreleri tarafından üretilir. AMH, folliküler areste katkıda bulunan, yumurtalıkta inhibe edici bir role sahiptir. Kadınlarda AMH düzeyleri 8 yaşına kadar düşüktür, ergenliğe kadar hızla yükselir ve 25 yaşından menopoz dönemine kadar, AMH üretimi durduğunda istikrarlı bir şekilde azalır CANDIDATE en nl HP:0031101 rdfs:label Abnormal circulating antimullerian hormone concentration Afwijkend Anti-Müller-Hormoon niveau CANDIDATE @@ -96712,13 +96712,13 @@ en ja HP:0031137 rdfs:label Storage in hepatocytes 肝細胞における貯蔵 O en es HP:0031137 rdfs:label Storage in hepatocytes Almacenamiento en hepatocitos OFFICIAL en cs HP:0031138 IAO:0000115 A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP). Odchylka od normální cirkulující koncentrace natriuretického peptidu typu B (BNP) OFFICIAL en tr HP:0031138 IAO:0000115 A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP). Normal dolaşan B tipi natriüretik peptid (BNP) konsantrasyonundan sapma OFFICIAL -en nl HP:0031138 rdfs:label Abnormal B-type natriuretic peptide concentration Afwijkend B-type natriuretisch peptide niveau CANDIDATE -en fr HP:0031138 rdfs:label Abnormal B-type natriuretic peptide concentration Taux anormal de peptide natriurétique de type B CANDIDATE label of HP:0031138 (Abnormal B-type natriuretic peptide level) ; abnormality of metabolism/homeostasis -en cs HP:0031138 rdfs:label Abnormal B-type natriuretic peptide concentration Abnormální hladina natriuretického peptidu typu B CANDIDATE -en tr HP:0031138 rdfs:label Abnormal B-type natriuretic peptide concentration Anormal B tipi natriüretik peptit seviyesi CANDIDATE -en zh HP:0031138 rdfs:label Abnormal B-type natriuretic peptide concentration B型钠尿肽水平异常 CANDIDATE -en ja HP:0031138 rdfs:label Abnormal B-type natriuretic peptide concentration B型ナトリウム利尿ペプチド濃度の異常 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT -en es HP:0031138 rdfs:label Abnormal B-type natriuretic peptide concentration Nivel anormal de péptido natriurético de tipo B CANDIDATE +en nl HP:0031138 rdfs:label Abnormal circulating B-type natriuretic peptide concentration Afwijkend B-type natriuretisch peptide niveau CANDIDATE +en fr HP:0031138 rdfs:label Abnormal circulating B-type natriuretic peptide concentration Taux anormal de peptide natriurétique de type B CANDIDATE label of HP:0031138 (Abnormal B-type natriuretic peptide level) ; abnormality of metabolism/homeostasis +en cs HP:0031138 rdfs:label Abnormal circulating B-type natriuretic peptide concentration Abnormální hladina natriuretického peptidu typu B CANDIDATE +en tr HP:0031138 rdfs:label Abnormal circulating B-type natriuretic peptide concentration Anormal B tipi natriüretik peptit seviyesi CANDIDATE +en zh HP:0031138 rdfs:label Abnormal circulating B-type natriuretic peptide concentration B型钠尿肽水平异常 CANDIDATE +en ja HP:0031138 rdfs:label Abnormal circulating B-type natriuretic peptide concentration B型ナトリウム利尿ペプチド濃度の異常 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT +en es HP:0031138 rdfs:label Abnormal circulating B-type natriuretic peptide concentration Nivel anormal de péptido natriurético de tipo B CANDIDATE en cs HP:0031139 IAO:0000115 A type of rest posture in an infant that indicated a generalized reduction in muscle tone. The hips are flexed and the legs are abducted to an extent that causes the lateral thigh to rest upon the supporting surface. This posture is said to resemble the legs of a frog. Typ klidové polohy u kojence, který naznačuje generalizované snížení svalového tonu. Kyčle jsou ohnuté a nohy jsou abdukovány do té míry, že se boky stehen se opírají o podložku. Tato poloha připomíná nohy žáby. OFFICIAL en tr HP:0031139 IAO:0000115 A type of rest posture in an infant that indicated a generalized reduction in muscle tone. The hips are flexed and the legs are abducted to an extent that causes the lateral thigh to rest upon the supporting surface. This posture is said to resemble the legs of a frog. Bir bebekte kas tonusunda genel bir azalma olduğunu gösteren durgun duruş tipi. Kalça esnetilir ve bacaklar yanal uyluğun destek yüzeyinin üzerine oturmasına neden olacak kadar dışarı doğru çekilir. Bu duruşun bir kurbağanın bacaklarına benzediği söylenir CANDIDATE en nl HP:0031139 rdfs:label Frog-leg posture Kikkerhouding CANDIDATE @@ -97213,8 +97213,8 @@ en tr HP:0031202 rdfs:label Waxy casts Mumsu kümeler OFFICIAL en zh HP:0031202 rdfs:label Waxy casts 蜡样管型 OFFICIAL en ja HP:0031202 rdfs:label Waxy casts ワックス状ギプス OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0031202 rdfs:label Waxy casts Cilindros cerosos OFFICIAL -en cs HP:0031203 IAO:0000115 A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses. Typ bezbuněčných močových válců, které obsahují tukové kapky, tuková tělíska nebo krystaly cholesterolu a jsou často asociovány s volnými formami těchto elementů. Jejich identifikace může vyžadovat použití polarizační světelné mikroskopie, v níž se tukové elementy uložené v matrix válce zobrazují jako maltézské kříže OFFICIAL -en tr HP:0031203 IAO:0000115 A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses. Lipid damlacıkları içeren bir hücresiz ürinerin türü, oval yağlı vücutlar veya kolesterol kristalleri, ve sıklıkla bu öğelerin serbest biçimleri ile ilişkilidir. Onların kimliğini saptama polarize ışık mikroskopisinin kullanılmasını gerektirebilir, Malta haçı olarak döküm kalıba benzeyenin içine ki yağlı parçacıkları gömülenlerin altına CANDIDATE +en cs HP:0031203 IAO:0000115 A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarized light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses. Typ bezbuněčných močových válců, které obsahují tukové kapky, tuková tělíska nebo krystaly cholesterolu a jsou často asociovány s volnými formami těchto elementů. Jejich identifikace může vyžadovat použití polarizační světelné mikroskopie, v níž se tukové elementy uložené v matrix válce zobrazují jako maltézské kříže CANDIDATE +en tr HP:0031203 IAO:0000115 A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarized light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses. Lipid damlacıkları içeren bir hücresiz ürinerin türü, oval yağlı vücutlar veya kolesterol kristalleri, ve sıklıkla bu öğelerin serbest biçimleri ile ilişkilidir. Onların kimliğini saptama polarize ışık mikroskopisinin kullanılmasını gerektirebilir, Malta haçı olarak döküm kalıba benzeyenin içine ki yağlı parçacıkları gömülenlerin altına CANDIDATE en nl HP:0031203 rdfs:label Fatty casts Vette cilinders CANDIDATE en fr HP:0031203 rdfs:label Fatty casts Nodules gras OFFICIAL label of HP:0031203 (Fatty casts) ; abnormality of metabolism/homeostasis ; abnormality of the genitourinary system en cs HP:0031203 rdfs:label Fatty casts Tukové válce v močovém sedimentu OFFICIAL @@ -100666,8 +100666,8 @@ en tr HP:0031605 rdfs:label Abnormality of fundus pigmentation Fundus pigmentasy en zh HP:0031605 rdfs:label Abnormality of fundus pigmentation 眼底色素沉着异常 OFFICIAL en ja HP:0031605 rdfs:label Abnormality of fundus pigmentation 眼底色素異常 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0031605 rdfs:label Abnormality of fundus pigmentation Anomalía de la pigmentación del fondo de ojo OFFICIAL -en cs HP:0031606 IAO:0000115 Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. Načechraná bílá skvrna na makule, která představuje lokalizované denzní oblasti bělavého otoku nervových vláken sítnice. Často mají klikatou strukturu, nerovný okraj, ale jinak jsou dobře ohraničené a velikost přibližně 1 mm; mírně vystupují do sklivce a někdy vychylují cévy sítnice. OFFICIAL -en tr HP:0031606 IAO:0000115 Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. Retinadaki yumuşak beyaz yama, retinal sinir lifi tabakasının yoğun beyaz şişmelerinin lokalize bölgelerini temsil eder. Çoğunlukla zikzak dahili yapıya sahiptirler, tüylü bir kenar ancak bunun dışında iyi betimlenmiş bir biçim ve yaklaşık olarak 1 mm boyut; vitreusa içine hafifçe yansırlar ve bazen retinal damarları saptırırlar CANDIDATE +en cs HP:0031606 IAO:0000115 Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fiber layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. Načechraná bílá skvrna na makule, která představuje lokalizované denzní oblasti bělavého otoku nervových vláken sítnice. Často mají klikatou strukturu, nerovný okraj, ale jinak jsou dobře ohraničené a velikost přibližně 1 mm; mírně vystupují do sklivce a někdy vychylují cévy sítnice. CANDIDATE +en tr HP:0031606 IAO:0000115 Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fiber layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. Retinadaki yumuşak beyaz yama, retinal sinir lifi tabakasının yoğun beyaz şişmelerinin lokalize bölgelerini temsil eder. Çoğunlukla zikzak dahili yapıya sahiptirler, tüylü bir kenar ancak bunun dışında iyi betimlenmiş bir biçim ve yaklaşık olarak 1 mm boyut; vitreusa içine hafifçe yansırlar ve bazen retinal damarları saptırırlar CANDIDATE en fr HP:0031606 rdfs:label Retinal cotton wool spot Tâche cotonneuse rétinienne OFFICIAL label of HP:0031606 (Retinal cotton wool spot) ; abnormality of the eye en cs HP:0031606 rdfs:label Retinal cotton wool spot Vatovitá skvrna na sítnici OFFICIAL en tr HP:0031606 rdfs:label Retinal cotton wool spot Retinal pamuk noktası OFFICIAL @@ -101193,8 +101193,8 @@ en tr HP:0031670 rdfs:label Continuous heart murmur Kesintisiz kalp üfürümü en zh HP:0031670 rdfs:label Continuous heart murmur 持续性心杂音 OFFICIAL en ja HP:0031670 rdfs:label Continuous heart murmur 連続性心雑音 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0031670 rdfs:label Continuous heart murmur Soplo continuo del corazón OFFICIAL -en cs HP:0031671 IAO:0000115 Typical atrial flutter is an organised atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative. Typický flutter síní je organizovaná síňová tachykardie. Může být také definován jako reentry tachykardie omezená na pravou síň. Tato arytmie má délku cyklu 200-260 ms, ačkoliv délka může kolísat v závislosti na předchozí léčbě nebo ablaci, vrozené srdeční vadě atd. Komorová frekvenční odpověď bude omezena vedením atrioventrikulárního uzlu, obvykle představuje odpověď 2:1 nebo 3:1, během flutteru síní. Typický (proti směru hodinových ručiček) flutter je spojen s běžným vzorem flutteru: pravidelným kontinuálním vlněním s dominantními negativními výchylkami v dolních svodech II, III a aVF, často popisovaným také jako vzor zubů pily a plochými výchylkami síní ve svodech I a aVL. Síňové výchylky ve V1 mohou být pozitivní, bifázické nebo negativní. OFFICIAL -en tr HP:0031671 IAO:0000115 Typical atrial flutter is an organised atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative. Tipik bir atriyal çarpıntı organize bir atriyal taşikardidir. Ayrıca, sağ atriyumla sınırlanmış makro-aday taşikardi olarak da tanımlanabilir. Bu aritmi, hastanın önceki tedavisine veya ablasyonuna, konjenital kalp hastalığına vb. bağlı olarak dalgalanma gösterebilir; ancak, 200-260 ms dönem uzunluğuna sahiptir. Ventriküler hız cevabı atriyal çarpıntı sırasında genellikle 2:1 veya 3:1 olan atriyoventriküler düğüm iletkenleri ile sınırlandırılacaktır. Tipik (saat yönünün tersine) çarpıntı, ortak çarpıntı modeliyle ilişkilidir: İnferior lead II, III ve aVF'de dominant negatif sapmalar gösteren düzenli sürekli bir dalgalanma, çoğunlukla bir testere dişi modeli olarak tanımlanır ve düz atriyal sapmalar I ve aVL'ye sebep olur. V1'deki atriyal defleksiyonlar pozitif, bifazik veya negatif olabilir CANDIDATE +en cs HP:0031671 IAO:0000115 Typical atrial flutter is an organized atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative. Typický flutter síní je organizovaná síňová tachykardie. Může být také definován jako reentry tachykardie omezená na pravou síň. Tato arytmie má délku cyklu 200-260 ms, ačkoliv délka může kolísat v závislosti na předchozí léčbě nebo ablaci, vrozené srdeční vadě atd. Komorová frekvenční odpověď bude omezena vedením atrioventrikulárního uzlu, obvykle představuje odpověď 2:1 nebo 3:1, během flutteru síní. Typický (proti směru hodinových ručiček) flutter je spojen s běžným vzorem flutteru: pravidelným kontinuálním vlněním s dominantními negativními výchylkami v dolních svodech II, III a aVF, často popisovaným také jako vzor zubů pily a plochými výchylkami síní ve svodech I a aVL. Síňové výchylky ve V1 mohou být pozitivní, bifázické nebo negativní. CANDIDATE +en tr HP:0031671 IAO:0000115 Typical atrial flutter is an organized atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative. Tipik bir atriyal çarpıntı organize bir atriyal taşikardidir. Ayrıca, sağ atriyumla sınırlanmış makro-aday taşikardi olarak da tanımlanabilir. Bu aritmi, hastanın önceki tedavisine veya ablasyonuna, konjenital kalp hastalığına vb. bağlı olarak dalgalanma gösterebilir; ancak, 200-260 ms dönem uzunluğuna sahiptir. Ventriküler hız cevabı atriyal çarpıntı sırasında genellikle 2:1 veya 3:1 olan atriyoventriküler düğüm iletkenleri ile sınırlandırılacaktır. Tipik (saat yönünün tersine) çarpıntı, ortak çarpıntı modeliyle ilişkilidir: İnferior lead II, III ve aVF'de dominant negatif sapmalar gösteren düzenli sürekli bir dalgalanma, çoğunlukla bir testere dişi modeli olarak tanımlanır ve düz atriyal sapmalar I ve aVL'ye sebep olur. V1'deki atriyal defleksiyonlar pozitif, bifazik veya negatif olabilir CANDIDATE en nl HP:0031671 rdfs:label Typical atrial flutter Typische atriale flutter CANDIDATE en fr HP:0031671 rdfs:label Typical atrial flutter Flutter auriculaire typique OFFICIAL label of HP:0031671 (Typical atrial flutter) ; abnormality of the cardiovascular system en cs HP:0031671 rdfs:label Typical atrial flutter Typický flutter síní OFFICIAL @@ -102319,8 +102319,8 @@ en tr HP:0031804 rdfs:label Premacular hemorrhage Premaküler kanama OFFICIAL en zh HP:0031804 rdfs:label Premacular hemorrhage 黄斑前出血 OFFICIAL en ja HP:0031804 rdfs:label Premacular hemorrhage 黄斑前出血 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0031804 rdfs:label Premacular hemorrhage Hemorragia premacular OFFICIAL -en cs HP:0031805 IAO:0000115 A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal haemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina. "Podtyp krvácení do fundu vyskytující se v neurosenzorické sítnici. Intraretinální hemoragie mohou mít tvar ""tečky"" nebo ""skvrny"" nebo plamene v závislosti na jejich hloubce v sítnici." OFFICIAL -en tr HP:0031805 IAO:0000115 A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal haemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina. Nöroduyusal retina içinde meydana gelen bir fundus hemorajisi alt tipi. İntraretinal hemorajiler retina içindeki derinliklerine bağlı olarak 'nokta' veya 'leke' şekilli veya alev şekilli olabilir OFFICIAL +en cs HP:0031805 IAO:0000115 A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal hemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina. "Podtyp krvácení do fundu vyskytující se v neurosenzorické sítnici. Intraretinální hemoragie mohou mít tvar ""tečky"" nebo ""skvrny"" nebo plamene v závislosti na jejich hloubce v sítnici." CANDIDATE +en tr HP:0031805 IAO:0000115 A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal hemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina. Nöroduyusal retina içinde meydana gelen bir fundus hemorajisi alt tipi. İntraretinal hemorajiler retina içindeki derinliklerine bağlı olarak 'nokta' veya 'leke' şekilli veya alev şekilli olabilir CANDIDATE en fr HP:0031805 rdfs:label Intraretinal hemorrhage Hémorragie intrarétinienne OFFICIAL label of HP:0031805 (Intraretinal hemorrhage) ; abnormality of the cardiovascular system ; abnormality of the eye ; abnormality of blood and blood-forming tissues en cs HP:0031805 rdfs:label Intraretinal hemorrhage Intraretinální hemoragie OFFICIAL en tr HP:0031805 rdfs:label Intraretinal hemorrhage İntraretinal kanama OFFICIAL @@ -103235,8 +103235,8 @@ en tr HP:0031930 rdfs:label Neurocytic rosette Nörositik rozet OFFICIAL en zh HP:0031930 rdfs:label Neurocytic rosette 神经纤维囊状菊形团 OFFICIAL en ja HP:0031930 rdfs:label Neurocytic rosette 神経細胞性ロゼット OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0031930 rdfs:label Neurocytic rosette Roseta neurocítica OFFICIAL -en cs HP:0031931 IAO:0000115 Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behaviour and its occurrence may be favoured by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation. Oční flutter (třepotání) je abnormální oční pohyb sestávající z opakovaných, nepravidelných, mimovolních sérií horizontálních sakád bez intersakadického intervalu. Obvykle se překrývá s normálním okulomotorickým chováním a jeho výskyt mohou podpořit různé události, jako je mrknutí, spuštění normálních sakád nebo optokinetická stimulace. OFFICIAL -en tr HP:0031931 IAO:0000115 Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behaviour and its occurrence may be favoured by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation. Oküler fluter tekrarlayan, düzensiz, salınımlar arası aralık olmadan olan yatay salınımların istemsiz patlamalarından oluşan anormal bir göz hareketidir. Genellikle normal okülomotor davranış üzerine binen ve meydana gelişi göz kırpması, normal salınımların tetiklenmesi veya optokinetik uyarı gibi çeşitli olaylar tarafından mümkün olabilir OFFICIAL +en cs HP:0031931 IAO:0000115 Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behavior and its occurrence may be favored by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation. Oční flutter (třepotání) je abnormální oční pohyb sestávající z opakovaných, nepravidelných, mimovolních sérií horizontálních sakád bez intersakadického intervalu. Obvykle se překrývá s normálním okulomotorickým chováním a jeho výskyt mohou podpořit různé události, jako je mrknutí, spuštění normálních sakád nebo optokinetická stimulace. CANDIDATE +en tr HP:0031931 IAO:0000115 Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behavior and its occurrence may be favored by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation. Oküler fluter tekrarlayan, düzensiz, salınımlar arası aralık olmadan olan yatay salınımların istemsiz patlamalarından oluşan anormal bir göz hareketidir. Genellikle normal okülomotor davranış üzerine binen ve meydana gelişi göz kırpması, normal salınımların tetiklenmesi veya optokinetik uyarı gibi çeşitli olaylar tarafından mümkün olabilir CANDIDATE en fr HP:0031931 rdfs:label Ocular flutter Flutter oculaire OFFICIAL label of HP:0031931 (Ocular flutter) ; abnormality of the eye en cs HP:0031931 rdfs:label Ocular flutter Chvění očí OFFICIAL en tr HP:0031931 rdfs:label Ocular flutter Oküler fluter OFFICIAL @@ -103545,48 +103545,48 @@ en tr HP:0031972 rdfs:label Presyncope Presenkop OFFICIAL en zh HP:0031972 rdfs:label Presyncope 晕厥前状态 OFFICIAL en ja HP:0031972 rdfs:label Presyncope プレyncope OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0031972 rdfs:label Presyncope Presíncope OFFICIAL -en cs HP:0031973 IAO:0000115 An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc. Abnormální zvýšení poměru výšky pohárku hlavy zrakového nervu k výšce disku. OFFICIAL -en tr HP:0031973 IAO:0000115 An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc. Optik sinir baş çukurunun yüksekliğinin disk yüksekliğine oranında anormal bir artış OFFICIAL +en cs HP:0031973 IAO:0000115 An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disk. Abnormální zvýšení poměru výšky pohárku hlavy zrakového nervu k výšce disku. CANDIDATE +en tr HP:0031973 IAO:0000115 An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disk. Optik sinir baş çukurunun yüksekliğinin disk yüksekliğine oranında anormal bir artış CANDIDATE en fr HP:0031973 rdfs:label Increased vertical cup-to-disc ratio Augmentation du rapport vertical cupule/disque OFFICIAL label of HP:0031973 (Increased vertical cup-to-disc ratio) ; abnormality of the eye en cs HP:0031973 rdfs:label Increased vertical cup-to-disc ratio Zvýšený vertikální poměr pohárku k disku OFFICIAL en tr HP:0031973 rdfs:label Increased vertical cup-to-disc ratio Artmış dikey çukurluk disk oranı OFFICIAL en zh HP:0031973 rdfs:label Increased vertical cup-to-disc ratio 垂直杯盘比增加 OFFICIAL en ja HP:0031973 rdfs:label Increased vertical cup-to-disc ratio 垂直カップ・ディスク比の増加 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0031973 rdfs:label Increased vertical cup-to-disc ratio Aumento de la relación copa-disco vertical (CDR) del nervio óptico OFFICIAL -en cs HP:0031974 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.6 (The normal cup-to-disc ratio is 0.3). Poměr výšky pohárku hlavičky zrakového nervu k výšce disku je 0,6 (normální poměr pohárku a disku je 0,3). OFFICIAL -en tr HP:0031974 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.6 (The normal cup-to-disc ratio is 0.3). Optik sinir baş çukur yüksekliğinin disk yüksekliğine oranı 0.6'dır (normal çukur disk oranı 0.3'tür) CANDIDATE +en cs HP:0031974 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.6 (The normal cup-to-disc ratio is 0.3). Poměr výšky pohárku hlavičky zrakového nervu k výšce disku je 0,6 (normální poměr pohárku a disku je 0,3). CANDIDATE +en tr HP:0031974 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.6 (The normal cup-to-disc ratio is 0.3). Optik sinir baş çukur yüksekliğinin disk yüksekliğine oranı 0.6'dır (normal çukur disk oranı 0.3'tür) CANDIDATE en fr HP:0031974 rdfs:label Increased vertical cup-to-disc ratio - 0.6 Augmentation du rapport vertical coupe-disque - 0.6 OFFICIAL label of HP:0031974 (Increased vertical cup-to-disc ratio - 0.6) ; abnormality of the eye en cs HP:0031974 rdfs:label Increased vertical cup-to-disc ratio - 0.6 Zvýšený vertikální poměr pohárku k disku - 0,6 OFFICIAL en tr HP:0031974 rdfs:label Increased vertical cup-to-disc ratio - 0.6 Artmış dikey çukurluk disk oranı - 0.6 OFFICIAL en zh HP:0031974 rdfs:label Increased vertical cup-to-disc ratio - 0.6 垂直杯盘比增加-0.6 OFFICIAL en ja HP:0031974 rdfs:label Increased vertical cup-to-disc ratio - 0.6 垂直カップ・ディスク比の増加-0.6 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0031974 rdfs:label Increased vertical cup-to-disc ratio - 0.6 Aumento de la relación copa-disco vertical (CDR) - 0.6 del nervio óptico OFFICIAL -en cs HP:0031975 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.7 (The normal cup-to-disc ratio is 0.3). Poměr výšky pohárku hlavičky zrakového nervu k výšce disku je 0,7 (normální poměr pohárku a disku je 0,3). OFFICIAL -en tr HP:0031975 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.7 (The normal cup-to-disc ratio is 0.3). Optik sinir baş çukur yüksekliğinin disk yüksekliğine oranı 0.7'dir (normal çukur disk oranı 0.3'tür) OFFICIAL +en cs HP:0031975 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.7 (The normal cup-to-disc ratio is 0.3). Poměr výšky pohárku hlavičky zrakového nervu k výšce disku je 0,7 (normální poměr pohárku a disku je 0,3). CANDIDATE +en tr HP:0031975 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.7 (The normal cup-to-disc ratio is 0.3). Optik sinir baş çukur yüksekliğinin disk yüksekliğine oranı 0.7'dir (normal çukur disk oranı 0.3'tür) CANDIDATE en fr HP:0031975 rdfs:label Increased vertical cup-to-disc ratio - 0.7 Augmentation du rapport vertical coupe-disque - 0.7 OFFICIAL label of HP:0031975 (Increased vertical cup-to-disc ratio - 0.7) ; abnormality of the eye en cs HP:0031975 rdfs:label Increased vertical cup-to-disc ratio - 0.7 Zvýšený vertikální poměr pohárku k disku - 0,7 OFFICIAL en tr HP:0031975 rdfs:label Increased vertical cup-to-disc ratio - 0.7 Artmış dikey çukurluk disk oranı - 0.7 OFFICIAL en zh HP:0031975 rdfs:label Increased vertical cup-to-disc ratio - 0.7 垂直杯盘比增加-0.7 OFFICIAL en ja HP:0031975 rdfs:label Increased vertical cup-to-disc ratio - 0.7 垂直カップ・ディスク比増加-0.7 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0031975 rdfs:label Increased vertical cup-to-disc ratio - 0.7 Aumento de la relación copa-disco vertical (CDR) - 0.7 del nervio óptico OFFICIAL -en cs HP:0031976 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3). Poměr výšky pohárku hlavičky zrakového nervu k výšce disku je 0,8 (normální poměr pohárku a disku je 0,3). OFFICIAL -en tr HP:0031976 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3). Optik sinir baş çukur yüksekliğinin disk yüksekliğine oranı 0.8'dir (normal çukur disk oranı 0.3'tür) OFFICIAL +en cs HP:0031976 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.8 (The normal cup-to-disc ratio is 0.3). Poměr výšky pohárku hlavičky zrakového nervu k výšce disku je 0,8 (normální poměr pohárku a disku je 0,3). CANDIDATE +en tr HP:0031976 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.8 (The normal cup-to-disc ratio is 0.3). Optik sinir baş çukur yüksekliğinin disk yüksekliğine oranı 0.8'dir (normal çukur disk oranı 0.3'tür) CANDIDATE en fr HP:0031976 rdfs:label Increased vertical cup-to-disc ratio - 0.8 Augmentation du rapport vertical entre la coupe et le disque - 0.8 OFFICIAL label of HP:0031976 (Increased vertical cup-to-disc ratio - 0.8) ; abnormality of the eye en cs HP:0031976 rdfs:label Increased vertical cup-to-disc ratio - 0.8 Zvýšený vertikální poměr pohárku k disku - 0,8 OFFICIAL en tr HP:0031976 rdfs:label Increased vertical cup-to-disc ratio - 0.8 Artmış dikey çukurluk disk oranı - 0.8 OFFICIAL en zh HP:0031976 rdfs:label Increased vertical cup-to-disc ratio - 0.8 垂直杯盘比增加-0.8 OFFICIAL en ja HP:0031976 rdfs:label Increased vertical cup-to-disc ratio - 0.8 カップ対ディスク縦比アップ-0.8 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0031976 rdfs:label Increased vertical cup-to-disc ratio - 0.8 Aumento de la relación copa-disco vertical (CDR) - 0.8 del nervio óptico OFFICIAL -en cs HP:0031977 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.9 (The normal cup-to-disc ratio is 0.3). Poměr výšky pohárku hlavičky zrakového nervu k výšce disku je 0,9 (normální poměr pohárku a disku je 0,3). OFFICIAL -en tr HP:0031977 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.9 (The normal cup-to-disc ratio is 0.3). Optik sinir baş çukur yüksekliğinin disk yüksekliğine oranı 0.9'dir (normal çukur disk oranı 0.3'tür) OFFICIAL +en cs HP:0031977 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.9 (The normal cup-to-disc ratio is 0.3). Poměr výšky pohárku hlavičky zrakového nervu k výšce disku je 0,9 (normální poměr pohárku a disku je 0,3). CANDIDATE +en tr HP:0031977 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.9 (The normal cup-to-disc ratio is 0.3). Optik sinir baş çukur yüksekliğinin disk yüksekliğine oranı 0.9'dir (normal çukur disk oranı 0.3'tür) CANDIDATE en fr HP:0031977 rdfs:label Increased vertical cup-to-disc ratio - 0.9 Augmentation du rapport vertical entre la coupe et le disque - 0.9 OFFICIAL label of HP:0031977 (Increased vertical cup-to-disc ratio - 0.9) ; abnormality of the eye en cs HP:0031977 rdfs:label Increased vertical cup-to-disc ratio - 0.9 Zvýšený vertikální poměr pohárku k disku - 0,9 OFFICIAL en tr HP:0031977 rdfs:label Increased vertical cup-to-disc ratio - 0.9 Artmış dikey çukurluk disk oranı - 0.9 OFFICIAL en zh HP:0031977 rdfs:label Increased vertical cup-to-disc ratio - 0.9 垂直杯盘比增加-0.9 OFFICIAL en ja HP:0031977 rdfs:label Increased vertical cup-to-disc ratio - 0.9 カップ・ディスク縦比アップ-0.9 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0031977 rdfs:label Increased vertical cup-to-disc ratio - 0.9 Aumento de la relación copa-disco vertical (CDR) - 0.9 del nervio óptico OFFICIAL -en cs HP:0031978 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 1.0 (The normal cup-to-disc ratio is 0.3). Poměr výšky pohárku hlavičky zrakového nervu k výšce disku je 1,0 (normální poměr pohárku a disku je 0,3). OFFICIAL -en tr HP:0031978 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 1.0 (The normal cup-to-disc ratio is 0.3). Optik sinir baş çukur yüksekliğinin disk yüksekliğine oranı 1.0'dir (normal çukur disk oranı 0.3'tür) OFFICIAL +en cs HP:0031978 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disk is 1.0 (The normal cup-to-disc ratio is 0.3). Poměr výšky pohárku hlavičky zrakového nervu k výšce disku je 1,0 (normální poměr pohárku a disku je 0,3). CANDIDATE +en tr HP:0031978 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disk is 1.0 (The normal cup-to-disc ratio is 0.3). Optik sinir baş çukur yüksekliğinin disk yüksekliğine oranı 1.0'dir (normal çukur disk oranı 0.3'tür) CANDIDATE en fr HP:0031978 rdfs:label Increased vertical cup-to-disc ratio - 1.0 Augmentation du rapport vertical coupe-disque - 1,0 OFFICIAL label of HP:0031978 (Increased vertical cup-to-disc ratio - 1.0) ; abnormality of the eye en cs HP:0031978 rdfs:label Increased vertical cup-to-disc ratio - 1.0 Zvýšený vertikální poměr pohárku k disku - 1,0 OFFICIAL en tr HP:0031978 rdfs:label Increased vertical cup-to-disc ratio - 1.0 Artmış dikey çukurluk disk oranı - 1.0 OFFICIAL @@ -103955,8 +103955,8 @@ en tr HP:0032024 rdfs:label Ileal ulcer İleal ülser OFFICIAL en zh HP:0032024 rdfs:label Ileal ulcer 回肠溃疡 OFFICIAL en ja HP:0032024 rdfs:label Ileal ulcer 腸潰瘍 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0032024 rdfs:label Ileal ulcer Úlcera ileal OFFICIAL -en cs HP:0032025 IAO:0000115 A reduced concentration or activity of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs. Snížená koncentrace cirkulujícího alfa1-antitrypsinu, glykoproteinu o velikosti 52-kDam který je syntetizovaný a vylučovaný hepatocyty do krevního řečiště. Alfa1-antitrypsin je inhibitor séroproteinázy, který má zásadní význam pro udržení proteázové homeostázy v plicích CANDIDATE -en tr HP:0032025 IAO:0000115 A reduced concentration or activity of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs. Ana olarak hepatositler tarafından sentezlenen ve kan akımının içine salgılanan 52-kDa bir glikoprotein olan alfa-1 antitripsininin azalmış dolaşım konsantrasyonu. Alfa-1 antitripsin akciğerlerde proteaz-antiproteaz homeostazini sürdürmede kritik olan bir serin-proteinaz inhibitörüdür CANDIDATE +en cs HP:0032025 IAO:0000115 A reduced concentration or activity of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesized and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs. Snížená koncentrace cirkulujícího alfa1-antitrypsinu, glykoproteinu o velikosti 52-kDam který je syntetizovaný a vylučovaný hepatocyty do krevního řečiště. Alfa1-antitrypsin je inhibitor séroproteinázy, který má zásadní význam pro udržení proteázové homeostázy v plicích CANDIDATE +en tr HP:0032025 IAO:0000115 A reduced concentration or activity of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesized and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs. Ana olarak hepatositler tarafından sentezlenen ve kan akımının içine salgılanan 52-kDa bir glikoprotein olan alfa-1 antitripsininin azalmış dolaşım konsantrasyonu. Alfa-1 antitripsin akciğerlerde proteaz-antiproteaz homeostazini sürdürmede kritik olan bir serin-proteinaz inhibitörüdür CANDIDATE en fr HP:0032025 rdfs:label Reduced circulating alpha-1-antitrypsin concentration Diminution de l'alpha-1-antitrypsine sérique CANDIDATE label of HP:0032025 (Reduced serum alpha-1-antitrypsin) ; abnormality of metabolism/homeostasis en cs HP:0032025 rdfs:label Reduced circulating alpha-1-antitrypsin concentration Snížená hladina sérového alfa1-antitrypsinu CANDIDATE en tr HP:0032025 rdfs:label Reduced circulating alpha-1-antitrypsin concentration Azalmış serum alfa-1-antitripsini CANDIDATE @@ -103971,16 +103971,16 @@ en tr HP:0032026 rdfs:label Anetoderma Anetoderma OFFICIAL en zh HP:0032026 rdfs:label Anetoderma 皮肤松弛 OFFICIAL en ja HP:0032026 rdfs:label Anetoderma 尋常性無汗症 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0032026 rdfs:label Anetoderma Anetoderma OFFICIAL -en cs HP:0032027 IAO:0000115 Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size. Žluté, bílé nebo šedavé léze na sítnici, které jsou dobře ohraničené/výrazné, jednotlivé a většinou stejné velikosti. OFFICIAL -en tr HP:0032027 IAO:0000115 Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size. Retinada iyi tanımlı/ayırt edilebilen, bireysel ve çoğunlukla tek tip boyutta olan sarı, beyaz veya grimsi lezyonlar OFFICIAL +en cs HP:0032027 IAO:0000115 Yellow, white or grayish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size. Žluté, bílé nebo šedavé léze na sítnici, které jsou dobře ohraničené/výrazné, jednotlivé a většinou stejné velikosti. CANDIDATE +en tr HP:0032027 IAO:0000115 Yellow, white or grayish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size. Retinada iyi tanımlı/ayırt edilebilen, bireysel ve çoğunlukla tek tip boyutta olan sarı, beyaz veya grimsi lezyonlar CANDIDATE en fr HP:0032027 rdfs:label Retinal dots Points rétiniens OFFICIAL label of HP:0032027 (Retinal dots) ; abnormality of the eye en cs HP:0032027 rdfs:label Retinal dots Sítnicové tečky OFFICIAL en tr HP:0032027 rdfs:label Retinal dots Retinal noktalar OFFICIAL en zh HP:0032027 rdfs:label Retinal dots 点状视网膜病变 OFFICIAL en ja HP:0032027 rdfs:label Retinal dots 網膜ドット OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0032027 rdfs:label Retinal dots Puntos retinales OFFICIAL -en cs HP:0032028 IAO:0000115 Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size. Žluté, bílé nebo šedavé léze v makule, které jsou dobře ohraničené/výrazné, jednotlivé a většinou stejné velikosti. OFFICIAL -en tr HP:0032028 IAO:0000115 Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size. Makülada iyi tanımlı/ayırt edilebilen, bireysel ve çoğunlukla tek tip boyutta olan sarı, beyaz veya grimsi lezyonlar OFFICIAL +en cs HP:0032028 IAO:0000115 Yellow, white or grayish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size. Žluté, bílé nebo šedavé léze v makule, které jsou dobře ohraničené/výrazné, jednotlivé a většinou stejné velikosti. CANDIDATE +en tr HP:0032028 IAO:0000115 Yellow, white or grayish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size. Makülada iyi tanımlı/ayırt edilebilen, bireysel ve çoğunlukla tek tip boyutta olan sarı, beyaz veya grimsi lezyonlar CANDIDATE en fr HP:0032028 rdfs:label Macular dots Points maculaires OFFICIAL label of HP:0032028 (Macular dots) ; abnormality of the eye en cs HP:0032028 rdfs:label Macular dots Makulární tečky OFFICIAL en tr HP:0032028 rdfs:label Macular dots Maküler noktalar OFFICIAL @@ -103995,16 +103995,16 @@ en tr HP:0032029 rdfs:label Floppy eyelid Gevşek göz kapağı OFFICIAL en zh HP:0032029 rdfs:label Floppy eyelid 眼睑松弛 OFFICIAL en ja HP:0032029 rdfs:label Floppy eyelid 眼瞼下垂症 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0032029 rdfs:label Floppy eyelid Párpado flácido OFFICIAL -en cs HP:0032030 IAO:0000115 Laxity of the tendon stabilising the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed. Zvýšená laxita šlachy stabilizující laterální část tarzální ploténky ke zygomatické kosti. Toto může vést k obloukovitému vzhledu laterálního očního koutku. Když je takové víčko odtaženo mediálně, je možné pozorovat pohyb kantálního úhlu o více než 2 mm. OFFICIAL -en tr HP:0032030 IAO:0000115 Laxity of the tendon stabilising the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed. Tarsal plağın lateral tarafını zigomatik kemiğe stabilize eden tendonun gevşekliği. Bu lateral kantusun yuvarlak görünümü ile sonuçlanabilir. Ayrıca, göz kapağı mediyal olarak çekildiğinde kantal açının 2 mm'den fazla hareketi gözlemlenebilir OFFICIAL +en cs HP:0032030 IAO:0000115 Laxity of the tendon stabilizing the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed. Zvýšená laxita šlachy stabilizující laterální část tarzální ploténky ke zygomatické kosti. Toto může vést k obloukovitému vzhledu laterálního očního koutku. Když je takové víčko odtaženo mediálně, je možné pozorovat pohyb kantálního úhlu o více než 2 mm. CANDIDATE +en tr HP:0032030 IAO:0000115 Laxity of the tendon stabilizing the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed. Tarsal plağın lateral tarafını zigomatik kemiğe stabilize eden tendonun gevşekliği. Bu lateral kantusun yuvarlak görünümü ile sonuçlanabilir. Ayrıca, göz kapağı mediyal olarak çekildiğinde kantal açının 2 mm'den fazla hareketi gözlemlenebilir CANDIDATE en fr HP:0032030 rdfs:label Lateral canthal tendon laxity Laxité du tendon canthal latéral OFFICIAL label of HP:0032030 (Lateral canthal tendon laxity) ; abnormality of head or neck en cs HP:0032030 rdfs:label Lateral canthal tendon laxity Laxicita laterálního kantálního vazu OFFICIAL en tr HP:0032030 rdfs:label Lateral canthal tendon laxity Lateral kantal tendon gevşekliği OFFICIAL en zh HP:0032030 rdfs:label Lateral canthal tendon laxity 外眦肌腱松弛 OFFICIAL en ja HP:0032030 rdfs:label Lateral canthal tendon laxity 外側腱膜弛緩症 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0032030 rdfs:label Lateral canthal tendon laxity Laxitud del tendón cantal lateral OFFICIAL -en cs HP:0032031 IAO:0000115 Laxity of the tendon stabilising the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally. Laxicita vazu stabilizujícího mediální část tarzální ploténky na anteriorní a posteriorní crista lacrimalis. Pokud se víčko odtáhne laterálně, dojde k posunu punctum lacrimale více než 2 mm. OFFICIAL -en tr HP:0032031 IAO:0000115 Laxity of the tendon stabilising the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally. Tarsal plağın mediyal tarafını anterior ve posterior lakrimal kabartılara stabilize eden tendon gevşekliği. Bu, göz kapağı lateral olarak çekildiğinde punktumun 2 mm'den fazla hareketine yol açabilir OFFICIAL +en cs HP:0032031 IAO:0000115 Laxity of the tendon stabilizing the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally. Laxicita vazu stabilizujícího mediální část tarzální ploténky na anteriorní a posteriorní crista lacrimalis. Pokud se víčko odtáhne laterálně, dojde k posunu punctum lacrimale více než 2 mm. CANDIDATE +en tr HP:0032031 IAO:0000115 Laxity of the tendon stabilizing the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally. Tarsal plağın mediyal tarafını anterior ve posterior lakrimal kabartılara stabilize eden tendon gevşekliği. Bu, göz kapağı lateral olarak çekildiğinde punktumun 2 mm'den fazla hareketine yol açabilir CANDIDATE en fr HP:0032031 rdfs:label Medial canthal tendon laxity Laxité du tendon canthal médial OFFICIAL label of HP:0032031 (Medial canthal tendon laxity) ; abnormality of head or neck en cs HP:0032031 rdfs:label Medial canthal tendon laxity Laxicita mediálního kantálního vazu OFFICIAL en tr HP:0032031 rdfs:label Medial canthal tendon laxity Mediyal kantal tendon gevşekliği OFFICIAL @@ -104019,8 +104019,8 @@ en tr HP:0032032 rdfs:label Horizontal eyelid laxity Yatay göz kapağı gevşek en zh HP:0032032 rdfs:label Horizontal eyelid laxity 眼睑水平面上松弛 OFFICIAL en ja HP:0032032 rdfs:label Horizontal eyelid laxity 眼瞼水平弛緩症 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0032032 rdfs:label Horizontal eyelid laxity Laxitud horizontal del párpado OFFICIAL -en cs HP:0032033 IAO:0000115 Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilising structures (e.g. lower lid retractors) or tarsal atrophy are often present. Abnormálně laxní oční víčka asociované s relaxací tkání, predominantně ve vertikální rovině. Lze demonstrovat vertikálním tahem za víčko. Oslabení vertikálních stabilizačních struktur (e.g. dolních retraktorů víčka) či tarzální atrofie jsou často přítomny. OFFICIAL -en tr HP:0032033 IAO:0000115 Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilising structures (e.g. lower lid retractors) or tarsal atrophy are often present. Esas olarak dikey düzlemde doku gevşemesi ile ilişkili anormal olarak gevşek göz kapağı. Dikey göz kapağı çekmesi ile ispat edilebilir. Dikey stabilize edici yapılar (örneğin alt göz kapağı retraktörleri) veya tarsal atrofi sıklıkla mevcuttur OFFICIAL +en cs HP:0032033 IAO:0000115 Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilizing structures (e.g. lower lid retractors) or tarsal atrophy are often present. Abnormálně laxní oční víčka asociované s relaxací tkání, predominantně ve vertikální rovině. Lze demonstrovat vertikálním tahem za víčko. Oslabení vertikálních stabilizačních struktur (e.g. dolních retraktorů víčka) či tarzální atrofie jsou často přítomny. CANDIDATE +en tr HP:0032033 IAO:0000115 Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilizing structures (e.g. lower lid retractors) or tarsal atrophy are often present. Esas olarak dikey düzlemde doku gevşemesi ile ilişkili anormal olarak gevşek göz kapağı. Dikey göz kapağı çekmesi ile ispat edilebilir. Dikey stabilize edici yapılar (örneğin alt göz kapağı retraktörleri) veya tarsal atrofi sıklıkla mevcuttur CANDIDATE en fr HP:0032033 rdfs:label Vertical eyelid laxity Laxité verticale de la paupière OFFICIAL label of HP:0032033 (Vertical eyelid laxity) ; abnormality of head or neck en cs HP:0032033 rdfs:label Vertical eyelid laxity Vertikální laxicita očního víčka OFFICIAL en tr HP:0032033 rdfs:label Vertical eyelid laxity Dikey göz kapağı gevşekliği OFFICIAL @@ -104179,8 +104179,8 @@ en tr HP:0032054 rdfs:label Focal cortical dysplasia type III Fokal kortikal dis en zh HP:0032054 rdfs:label Focal cortical dysplasia type III 局灶性皮质发育不良III型 OFFICIAL en ja HP:0032054 rdfs:label Focal cortical dysplasia type III 局所性皮質形成異常III型 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0032054 rdfs:label Focal cortical dysplasia type III Displasia cortical focal tipo III OFFICIAL -en cs HP:0032055 IAO:0000115 A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organisation (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis). Podtyp fokální kortikální dysplazie typu III, který je charakterizován změnami v architektonické organizaci (kortikální dyslaminace) nebo cytoarchitektonickém složení (hypertrofické neurony mimo vrstvu 5) u pacientů s hipokampální sklerózou. CANDIDATE -en tr HP:0032055 IAO:0000115 A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organisation (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis). Hipokampal sklerozisli hastalarda (HS, sinonim Ammon'un boynuz sklerozu) mimari organizasyonda (kortikal dislaminasyon) veya hücresel mimari bileşimde (Katman 5'in dışında hipertrofik nöronlar) değişimler ile karakterize bir fokal kortikal displazi tip III alt tipi CANDIDATE +en cs HP:0032055 IAO:0000115 A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organization (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis). Podtyp fokální kortikální dysplazie typu III, který je charakterizován změnami v architektonické organizaci (kortikální dyslaminace) nebo cytoarchitektonickém složení (hypertrofické neurony mimo vrstvu 5) u pacientů s hipokampální sklerózou. CANDIDATE +en tr HP:0032055 IAO:0000115 A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organization (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis). Hipokampal sklerozisli hastalarda (HS, sinonim Ammon'un boynuz sklerozu) mimari organizasyonda (kortikal dislaminasyon) veya hücresel mimari bileşimde (Katman 5'in dışında hipertrofik nöronlar) değişimler ile karakterize bir fokal kortikal displazi tip III alt tipi CANDIDATE en fr HP:0032055 rdfs:label Focal cortical dysplasia type IIIa Dysplasie corticale focale de type IIIa OFFICIAL label of HP:0032055 (Focal cortical dysplasia type IIIa) ; abnormality of the nervous system en cs HP:0032055 rdfs:label Focal cortical dysplasia type IIIa Fokální kortikální dysplázie typ IIIa OFFICIAL en tr HP:0032055 rdfs:label Focal cortical dysplasia type IIIa Fokal kortikal displazi tip IIIa OFFICIAL @@ -105040,8 +105040,8 @@ en tr HP:0032169 rdfs:label Severe infection Ciddi enfeksiyon OFFICIAL en zh HP:0032169 rdfs:label Severe infection 重度感染 OFFICIAL en ja HP:0032169 rdfs:label Severe infection 重症感染症 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0032169 rdfs:label Severe infection Infección severa OFFICIAL -en cs HP:0032170 IAO:0000115 An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterised by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella. Neobvykle závažná forma infekce virem Varicella zoster (VZV). Ve většině případů, zejména u dětí, je varicella velmi mírnou infekcí charakterizovanou kožními lézemi, nízkou horečkou a malátností. Těžká infekce je charakterizována projevy zahrnujícími VZV pneumonii, hepatitidu, meningitidu a diseminovanou varicellu. OFFICIAL -en tr HP:0032170 IAO:0000115 An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterised by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella. Varisella zoster virüsü (VZV) enfeksiyonunun olağan dışı ciddi bir formu. Çoğu vakada, özellikle çocuklarda varisella deri lezyonları, düşük dereceli ateş ve halsizlik ile karakterize çok hafif bir enfeksiyondur. Ciddi enfeksiyon VZV pnömonisi, hepatit, menenjit ve yaygın varisella dahil bulgular ile karakterizedir OFFICIAL +en cs HP:0032170 IAO:0000115 An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterized by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella. Neobvykle závažná forma infekce virem Varicella zoster (VZV). Ve většině případů, zejména u dětí, je varicella velmi mírnou infekcí charakterizovanou kožními lézemi, nízkou horečkou a malátností. Těžká infekce je charakterizována projevy zahrnujícími VZV pneumonii, hepatitidu, meningitidu a diseminovanou varicellu. CANDIDATE +en tr HP:0032170 IAO:0000115 An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterized by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella. Varisella zoster virüsü (VZV) enfeksiyonunun olağan dışı ciddi bir formu. Çoğu vakada, özellikle çocuklarda varisella deri lezyonları, düşük dereceli ateş ve halsizlik ile karakterize çok hafif bir enfeksiyondur. Ciddi enfeksiyon VZV pnömonisi, hepatit, menenjit ve yaygın varisella dahil bulgular ile karakterizedir CANDIDATE en fr HP:0032170 rdfs:label Severe varicella zoster infection Infection sévère à la varicelle et au zona OFFICIAL label of HP:0032170 (Severe varicella zoster infection) ; abnormality of the immune system en cs HP:0032170 rdfs:label Severe varicella zoster infection Těžká infekce virem Varicella Zoster OFFICIAL en tr HP:0032170 rdfs:label Severe varicella zoster infection Ciddi varisella zoster enfeksiyonu OFFICIAL @@ -105288,8 +105288,8 @@ en tr HP:0032201 rdfs:label Rotator cuff tear Rotator manşet yırtığı OFFICI en zh HP:0032201 rdfs:label Rotator cuff tear 肩袖撕裂 OFFICIAL en ja HP:0032201 rdfs:label Rotator cuff tear 腱板断裂 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0032201 rdfs:label Rotator cuff tear Desgarro del manguito rotador del hombro OFFICIAL -en cs HP:0032202 IAO:0000115 Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognised: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC. Vulvární intraepiteliální neoplazie (VIN) je obecně považována za prekurzor vulvárního dlaždicobuněčného karcinomu (VSCC). VSCC vzniká buď cestou spojenou s lidským papiloma virem (HPV), nebo častěji mechanismem nezávislým na HPV, často spojeným s chronickými zánětlivými stavy, jako je lichen sclerosus (LS). V souladu s tím jsou uznávány dva odlišné podtypy VIN: HPV asociovaná skvamózní intraepiteliální léze vysokého stupně/obvyklá VIN (HSIL/uVIN) a HPV neasociovaná diferencovaná VIN (dVIN). HSIL se klinicky pozná podle multifokálního bradavičnatého vzhledu a histologicky podle nápadných cytologických a architektonických atypií. Diferencovaná VIN naproti tomu často vytváří špatně definované léze a na histologii notoricky napodobuje nenádorové epiteliální poruchy (NNED), zejména LS. V důsledku toho je dVIN zřídka identifikována dříve, než je diagnostikována invazivní malignita, přestože je prekurzorovou lézí většiny VSCC. OFFICIAL -en tr HP:0032202 IAO:0000115 Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognised: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC. Vulvar intraepitelyal neoplazi (VIN) geniş olarak vulvar skuamöz hücre karsinomunun (VSHK) prekursör lezyonu olarak kabul edilmektedir. VSHK ya human papilloma virüsü (HPV) ilişkili yolak aracılığı ile ya da daha sık olarak HPV'den bağımsız bir mekanizma aracılığıyla liken sklerozus (LS) gibi sıklıkla kronik inflamatuvar durumlara bağlıdır. Uygun olarak, iki ayrı VIN alt tipi tanımlanmıştır: HPV-ilişkili yüksek dereeli skuamöz intraepitelyal lezyon/olağan VIN (HSIL/uVIN) ve HPV-ilişkili olmayan farklılaşmış VIN (dVIN). HSIL klinik olarak çoklu, siğil benzeri görünümü ve histolojide dikkat çekici sitolojik ve yapısal atipi ile tanımlanır. Farklılaşmış VIN, diğer yandan sıklıkla hastalıklı lezyonlar üretir ve histolojide herkesin bildiği gibi neoplastik olmayan epitelyal hastalığı (NNED), özellikle LS'yi taklit eder. Sonuç olarak dVIN, VSHK'nın çoğunluk prekürsör lezyonu olmasına rağmen invazif maliganansinin tanısından önce nadiren tanımlanır OFFICIAL +en cs HP:0032202 IAO:0000115 Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognized: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC. Vulvární intraepiteliální neoplazie (VIN) je obecně považována za prekurzor vulvárního dlaždicobuněčného karcinomu (VSCC). VSCC vzniká buď cestou spojenou s lidským papiloma virem (HPV), nebo častěji mechanismem nezávislým na HPV, často spojeným s chronickými zánětlivými stavy, jako je lichen sclerosus (LS). V souladu s tím jsou uznávány dva odlišné podtypy VIN: HPV asociovaná skvamózní intraepiteliální léze vysokého stupně/obvyklá VIN (HSIL/uVIN) a HPV neasociovaná diferencovaná VIN (dVIN). HSIL se klinicky pozná podle multifokálního bradavičnatého vzhledu a histologicky podle nápadných cytologických a architektonických atypií. Diferencovaná VIN naproti tomu často vytváří špatně definované léze a na histologii notoricky napodobuje nenádorové epiteliální poruchy (NNED), zejména LS. V důsledku toho je dVIN zřídka identifikována dříve, než je diagnostikována invazivní malignita, přestože je prekurzorovou lézí většiny VSCC. CANDIDATE +en tr HP:0032202 IAO:0000115 Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognized: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC. Vulvar intraepitelyal neoplazi (VIN) geniş olarak vulvar skuamöz hücre karsinomunun (VSHK) prekursör lezyonu olarak kabul edilmektedir. VSHK ya human papilloma virüsü (HPV) ilişkili yolak aracılığı ile ya da daha sık olarak HPV'den bağımsız bir mekanizma aracılığıyla liken sklerozus (LS) gibi sıklıkla kronik inflamatuvar durumlara bağlıdır. Uygun olarak, iki ayrı VIN alt tipi tanımlanmıştır: HPV-ilişkili yüksek dereeli skuamöz intraepitelyal lezyon/olağan VIN (HSIL/uVIN) ve HPV-ilişkili olmayan farklılaşmış VIN (dVIN). HSIL klinik olarak çoklu, siğil benzeri görünümü ve histolojide dikkat çekici sitolojik ve yapısal atipi ile tanımlanır. Farklılaşmış VIN, diğer yandan sıklıkla hastalıklı lezyonlar üretir ve histolojide herkesin bildiği gibi neoplastik olmayan epitelyal hastalığı (NNED), özellikle LS'yi taklit eder. Sonuç olarak dVIN, VSHK'nın çoğunluk prekürsör lezyonu olmasına rağmen invazif maliganansinin tanısından önce nadiren tanımlanır CANDIDATE en fr HP:0032202 rdfs:label Vulvar intraepithelial neoplasia Carcinome in situ intra-épithélial vulvaire OFFICIAL label of HP:0032202 (Vulvar intraepithelial neoplasia) ; abnormality of the genitourinary system ; neoplasm en cs HP:0032202 rdfs:label Vulvar intraepithelial neoplasia Intrepiteliální neoplázie vulvy OFFICIAL en tr HP:0032202 rdfs:label Vulvar intraepithelial neoplasia Vulvar intraepitelyal neoplazi OFFICIAL @@ -105824,14 +105824,14 @@ en tr HP:0032271 rdfs:label Extrapulmonary tuberculosis Ekstrapulmoner tüberkü en zh HP:0032271 rdfs:label Extrapulmonary tuberculosis 肺外结核 OFFICIAL en ja HP:0032271 rdfs:label Extrapulmonary tuberculosis 肺外結核 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0032271 rdfs:label Extrapulmonary tuberculosis Tuberculosis extrapulmonar OFFICIAL -en cs HP:0032272 IAO:0000115 Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry. Zvýšená hladina kyseliny N-acetylasparagové (NAA) v moči. Tuto vlastnost lze měřit pomocí plynové chromatografie s hmotnostní spektrometrií. OFFICIAL -en tr HP:0032272 IAO:0000115 Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry. İdrarda artmış N-asetilaspartik asit (NAA). Bu özellik gaz kromotografisi kütle spektrometresi kullanılarak ölçülebilir OFFICIAL -en fr HP:0032272 rdfs:label Elevated urinary N-acetylaspartic acid level Concentration urinaire élevée d'acide N-acétylaspartique OFFICIAL label of HP:0032272 (Elevated urinary N-acetylaspartic acid level) ; abnormality of metabolism/homeostasis ; abnormality of the genitourinary system -en cs HP:0032272 rdfs:label Elevated urinary N-acetylaspartic acid level Zvýšená hladina kyseliny N-acetylasparagové v moči OFFICIAL -en tr HP:0032272 rdfs:label Elevated urinary N-acetylaspartic acid level Artmış idrar N-asetilaspartik asit seviyesi OFFICIAL -en zh HP:0032272 rdfs:label Elevated urinary N-acetylaspartic acid level 尿N-乙酰天门冬氨酸水平升高 OFFICIAL -en ja HP:0032272 rdfs:label Elevated urinary N-acetylaspartic acid level 尿中N-アセチルアスパラギン酸値の上昇 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT -en es HP:0032272 rdfs:label Elevated urinary N-acetylaspartic acid level Aumento de la concentración de ácido N-acetilaspártico urinario OFFICIAL +en cs HP:0032272 IAO:0000115 Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry Zvýšená hladina kyseliny N-acetylasparagové (NAA) v moči. Tuto vlastnost lze měřit pomocí plynové chromatografie s hmotnostní spektrometrií. OFFICIAL +en tr HP:0032272 IAO:0000115 Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry İdrarda artmış N-asetilaspartik asit (NAA). Bu özellik gaz kromotografisi kütle spektrometresi kullanılarak ölçülebilir OFFICIAL +en fr HP:0032272 rdfs:label obsolete Elevated urinary N-acetylaspartic acid level Concentration urinaire élevée d'acide N-acétylaspartique CANDIDATE label of HP:0032272 (Elevated urinary N-acetylaspartic acid level) ; abnormality of metabolism/homeostasis ; abnormality of the genitourinary system +en cs HP:0032272 rdfs:label obsolete Elevated urinary N-acetylaspartic acid level Zvýšená hladina kyseliny N-acetylasparagové v moči CANDIDATE +en tr HP:0032272 rdfs:label obsolete Elevated urinary N-acetylaspartic acid level Artmış idrar N-asetilaspartik asit seviyesi CANDIDATE +en zh HP:0032272 rdfs:label obsolete Elevated urinary N-acetylaspartic acid level 尿N-乙酰天门冬氨酸水平升高 CANDIDATE +en ja HP:0032272 rdfs:label obsolete Elevated urinary N-acetylaspartic acid level 尿中N-アセチルアスパラギン酸値の上昇 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT +en es HP:0032272 rdfs:label obsolete Elevated urinary N-acetylaspartic acid level Aumento de la concentración de ácido N-acetilaspártico urinario CANDIDATE en cs HP:0032273 IAO:0000115 Concentration of N-acetylaspartic acid in the blood circulation above the upper limit of normal. Abnormálně zvýšená koncentrace N-Acetylaspartátové kyseliny v krevním oběhu CANDIDATE en tr HP:0032273 IAO:0000115 Concentration of N-acetylaspartic acid in the blood circulation above the upper limit of normal. Kan dolaşımında anormal olarak artmış N-asetilaspartik asit konsantrasyonu CANDIDATE en fr HP:0032273 rdfs:label Increased circulating N-acetylaspartic acid concentration Augmentation de la concentration circulante d'acide N-acétylaspartique OFFICIAL label of HP:0032273 (Increased circulating N-Acetylaspartic acid concentration) ; abnormality of metabolism/homeostasis @@ -106742,7 +106742,7 @@ en cs HP:0032455 rdfs:label Reduced granulocyte CD18 level Snížená hladina gr en zh HP:0032455 rdfs:label Reduced granulocyte CD18 level 粒细胞CD18水平降低 OFFICIAL en ja HP:0032455 rdfs:label Reduced granulocyte CD18 level 顆粒球CD18レベルの低下 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0032455 rdfs:label Reduced granulocyte CD18 level Nivel reducido de granulocitos CD18 OFFICIAL -en cs HP:0032456 IAO:0000115 A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and grey matter. Typ lissencefalie, při níž je při neuropatologickém vyšetření korová ploténka silně dezorganizovaná s věnčitým vzorem a bez laminace a jasného ohraničení bílé a šedé hmoty. CANDIDATE +en cs HP:0032456 IAO:0000115 A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and gray matter. Typ lissencefalie, při níž je při neuropatologickém vyšetření korová ploténka silně dezorganizovaná s věnčitým vzorem a bez laminace a jasného ohraničení bílé a šedé hmoty. CANDIDATE en cs HP:0032456 rdfs:label Unlayered lissencephaly Bezvrstvá lisencefalie CANDIDATE en zh HP:0032456 rdfs:label Unlayered lissencephaly 未分层无脑回 OFFICIAL en ja HP:0032456 rdfs:label Unlayered lissencephaly 非層状裂頭症 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT @@ -107083,10 +107083,10 @@ en es HP:0032528 rdfs:label Elevated urinary 4-hydroxybutyric acid Elevación de en ja HP:0032529 rdfs:label obsolete Elevated circulating gamma-aminobutyric acid concentration 循環ガンマアミノ酪酸濃度の上昇 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0032529 rdfs:label obsolete Elevated circulating gamma-aminobutyric acid concentration Elevación de la concentración de ácido gamma-aminobutírico circulante CANDIDATE en cs HP:0032530 IAO:0000115 Reduced level of succinic semialdehyde dehydrogenase (SSADH). Snížená hladina sukcinát semialdehyd dehydrogenázy (SSADH) CANDIDATE -en cs HP:0032530 rdfs:label Decreased succinic semialdehyde dehydrogenase level Snížená hladina koncentrace semialdehydu dehydrogenázy CANDIDATE -en zh HP:0032530 rdfs:label Decreased succinic semialdehyde dehydrogenase level 琥珀酸半醛脱氢酶水平降低 OFFICIAL -en ja HP:0032530 rdfs:label Decreased succinic semialdehyde dehydrogenase level コハク酸セミアルデヒド脱水素酵素値の低下 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT -en es HP:0032530 rdfs:label Decreased succinic semialdehyde dehydrogenase level Disminución de la actividad de la semialdehído deshidrogenasa succínica CANDIDATE +en cs HP:0032530 rdfs:label Decreased tissue succinic semialdehyde dehydrogenase activity Snížená hladina koncentrace semialdehydu dehydrogenázy CANDIDATE +en zh HP:0032530 rdfs:label Decreased tissue succinic semialdehyde dehydrogenase activity 琥珀酸半醛脱氢酶水平降低 CANDIDATE +en ja HP:0032530 rdfs:label Decreased tissue succinic semialdehyde dehydrogenase activity コハク酸セミアルデヒド脱水素酵素値の低下 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT +en es HP:0032530 rdfs:label Decreased tissue succinic semialdehyde dehydrogenase activity Disminución de la actividad de la semialdehído deshidrogenasa succínica CANDIDATE en cs HP:0032531 rdfs:label Elevated CSF gamma-aminobutyric acid concentration Zvýšená koncentrace kyseliny gama-aminomáselné v mozkomíšním moku CANDIDATE en zh HP:0032531 rdfs:label Elevated CSF gamma-aminobutyric acid concentration 脑脊液γ-氨基丁酸浓度升高 OFFICIAL en ja HP:0032531 rdfs:label Elevated CSF gamma-aminobutyric acid concentration CSFガンマアミノ酪酸濃度の上昇 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT @@ -107822,7 +107822,7 @@ en cs HP:0032678 rdfs:label Eyelid myoclonia seizure Záchvat s myokloniemi ví en zh HP:0032678 rdfs:label Eyelid myoclonia seizure 眼睑肌阵挛发作 OFFICIAL en ja HP:0032678 rdfs:label Eyelid myoclonia seizure 眼瞼ミオクロニア発作 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0032678 rdfs:label Eyelid myoclonia seizure Convulsión mioclónica de párpados OFFICIAL -en cs HP:0032679 IAO:0000115 A type of focal-onset seizure characterized by non-motor signs or symptoms (or behaviour arrest) as its initial semiological manifestation. Typ fokálního záchvatu charakterizovaný nemotorickými příznaky nebo symptomy (nebo zárazy v chování) jako počátečním semiologickým projevem. CANDIDATE +en cs HP:0032679 IAO:0000115 A type of focal-onset seizure characterized by non-motor signs or symptoms (or behavior arrest) as its initial semiological manifestation. Typ fokálního záchvatu charakterizovaný nemotorickými příznaky nebo symptomy (nebo zárazy v chování) jako počátečním semiologickým projevem. CANDIDATE en cs HP:0032679 rdfs:label Focal non-motor seizure Fokální non-motorický záchvat CANDIDATE en zh HP:0032679 rdfs:label Focal non-motor seizure 局灶性非运动发作 OFFICIAL en ja HP:0032679 rdfs:label Focal non-motor seizure 局所性非運動発作 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT @@ -108095,7 +108095,7 @@ en cs HP:0032735 rdfs:label Focal aware emotional seizure with anger Fokální e en zh HP:0032735 rdfs:label Focal aware emotional seizure with anger 伴有愤怒意识保留的局灶性情感发作 OFFICIAL en ja HP:0032735 rdfs:label Focal aware emotional seizure with anger 怒りを伴う焦点性情動発作 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0032735 rdfs:label Focal aware emotional seizure with anger Convulsión focal emocional sin pérdida de conciencia con ira OFFICIAL -en cs HP:0032736 IAO:0000115 Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behaviour. Fokální emoční záchvat s hněvem je charakterizován přítomností hněvu jako vyjádřené nebo pozorované emoce na začátku záchvatu. Může být doprovázen agresivním chováním. CANDIDATE +en cs HP:0032736 IAO:0000115 Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behavior. Fokální emoční záchvat s hněvem je charakterizován přítomností hněvu jako vyjádřené nebo pozorované emoce na začátku záchvatu. Může být doprovázen agresivním chováním. CANDIDATE en cs HP:0032736 rdfs:label Focal emotional seizure with anger Fokální emoční záchvat se zuřivostí CANDIDATE en zh HP:0032736 rdfs:label Focal emotional seizure with anger 伴愤怒的局灶性情感发作 OFFICIAL en ja HP:0032736 rdfs:label Focal emotional seizure with anger 怒りを伴う焦点性情動発作 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT @@ -108190,7 +108190,7 @@ en cs HP:0032754 rdfs:label Focal aware sensory seizure Fokální senzorický z en zh HP:0032754 rdfs:label Focal aware sensory seizure 意识保留的局灶性感觉发作 OFFICIAL en ja HP:0032754 rdfs:label Focal aware sensory seizure 焦点性感覚発作 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0032754 rdfs:label Focal aware sensory seizure Convulsión focal sensorial sin pérdida de conciencia OFFICIAL -en cs HP:0032755 IAO:0000115 A focal autonomic seizure characterised by impaired awareness at some point within the seizure. Fokální autonomní záchvat charakterizovaný poruchou vědomí v určitém okamžiku záchvatu CANDIDATE +en cs HP:0032755 IAO:0000115 A focal autonomic seizure characterized by impaired awareness at some point within the seizure. Fokální autonomní záchvat charakterizovaný poruchou vědomí v určitém okamžiku záchvatu CANDIDATE en cs HP:0032755 rdfs:label Focal impaired awareness autonomic seizure Fokální autonomní záchvat s poruchou vědomí CANDIDATE en zh HP:0032755 rdfs:label Focal impaired awareness autonomic seizure 意识受损的局灶性自动运动发作 OFFICIAL en ja HP:0032755 rdfs:label Focal impaired awareness autonomic seizure 自律神経発作を伴う焦点性意識障害 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT @@ -108235,7 +108235,7 @@ en cs HP:0032763 rdfs:label Focal autonomic seizure with pupillary dilation/cons en zh HP:0032763 rdfs:label Focal autonomic seizure with pupillary dilation/constriction 伴瞳孔扩张/收缩的局灶性植物神经发作 OFFICIAL en ja HP:0032763 rdfs:label Focal autonomic seizure with pupillary dilation/constriction 瞳孔拡張/収縮を伴う局所性自律神経発作 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0032763 rdfs:label Focal autonomic seizure with pupillary dilation/constriction Convulsión focal autonómica focal con dilatación / constricción pupilar OFFICIAL -en cs HP:0032764 IAO:0000115 A type of focal autonomic seizure characterised by penile erection as the initial semiological feature. Typ fokálního autonomního záchvatu charakterizovaný erekcí penisu jako počátečním semiologickým příznakem CANDIDATE +en cs HP:0032764 IAO:0000115 A type of focal autonomic seizure characterized by penile erection as the initial semiological feature. Typ fokálního autonomního záchvatu charakterizovaný erekcí penisu jako počátečním semiologickým příznakem CANDIDATE en cs HP:0032764 rdfs:label Focal autonomic seizure with erection Fokální autonomní záchvat s erekcí CANDIDATE en zh HP:0032764 rdfs:label Focal autonomic seizure with erection 伴勃起的局灶性植物神经发作 OFFICIAL en ja HP:0032764 rdfs:label Focal autonomic seizure with erection 勃起を伴う局所性自律神経発作 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT @@ -108359,12 +108359,12 @@ en cs HP:0032788 rdfs:label Focal impaired awareness autonomic seizure with palp en zh HP:0032788 rdfs:label Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole 伴心悸/心动过速/心动过缓/心搏停止的意识受损的局灶性植物神经发作 OFFICIAL en ja HP:0032788 rdfs:label Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole 動悸／頻脈／徐脈／心房細動を伴う局所性意識障害性自律神経発作 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0032788 rdfs:label Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole Convulsión focal autonómica con pérdida de conciencial con palpitaciones / taquicardia / bradicardia / asistolia OFFICIAL -en cs HP:0032789 IAO:0000115 A focal behavior arrest seizure characterised by retained awareness throughout the seizure. Fokální záchvat se zárazem v chování charakterizovaný zachovaným vědomím po celou dobu záchvatu. OFFICIAL +en cs HP:0032789 IAO:0000115 A focal behavior arrest seizure characterized by retained awareness throughout the seizure. Fokální záchvat se zárazem v chování charakterizovaný zachovaným vědomím po celou dobu záchvatu. CANDIDATE en cs HP:0032789 rdfs:label Focal aware behavior arrest seizure Fokální záchvat se zárazem v chování bez poruchy vědomí OFFICIAL en zh HP:0032789 rdfs:label Focal aware behavior arrest seizure 行动终止并意识保留的局灶性发作 OFFICIAL en ja HP:0032789 rdfs:label Focal aware behavior arrest seizure 焦点性意識行動停止発作 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0032789 rdfs:label Focal aware behavior arrest seizure Convulsión focal autonómica sin pérdida de conciencia y con parada OFFICIAL -en cs HP:0032790 IAO:0000115 A focal behavior arrest seizure characterised by impaired awareness at some point during the seizure. Fokální záchvat se zárazem v chování charakterizovaný poruchou vědomí v určitém okamžiku záchvatu. OFFICIAL +en cs HP:0032790 IAO:0000115 A focal behavior arrest seizure characterized by impaired awareness at some point during the seizure. Fokální záchvat se zárazem v chování charakterizovaný poruchou vědomí v určitém okamžiku záchvatu. CANDIDATE en cs HP:0032790 rdfs:label Focal impaired awareness behavior arrest seizure Fokální záchvat se zárazem v chování a poruchou vědomí OFFICIAL en zh HP:0032790 rdfs:label Focal impaired awareness behavior arrest seizure 行动终止并意识受损的局灶性发作 OFFICIAL en ja HP:0032790 rdfs:label Focal impaired awareness behavior arrest seizure 焦点性意識障害行動停止発作 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT @@ -108374,7 +108374,7 @@ en cs HP:0032791 rdfs:label Focal impaired awareness cognitive seizure with anom en zh HP:0032791 rdfs:label Focal impaired awareness cognitive seizure with anomia 伴命名障碍意识受损的局灶性知觉发作 OFFICIAL en ja HP:0032791 rdfs:label Focal impaired awareness cognitive seizure with anomia アノミアを伴う局所性意識障害認知発作 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0032791 rdfs:label Focal impaired awareness cognitive seizure with anomia Convulsión focal cognitiva con pérdida de conciencia con anomia OFFICIAL -en cs HP:0032792 IAO:0000115 A tonic seizure is a type of motor seizure characterised by unilateral or bilateral limb stiffening or elevation, often with neck stiffening. Tonický záchvat je typ motorického záchvatu charakterizovaný jednostranným nebo oboustranným ztuhnutím nebo elevací končetin, často se ztuhnutím krku. OFFICIAL +en cs HP:0032792 IAO:0000115 A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening. Tonický záchvat je typ motorického záchvatu charakterizovaný jednostranným nebo oboustranným ztuhnutím nebo elevací končetin, často se ztuhnutím krku. CANDIDATE en cs HP:0032792 rdfs:label Tonic seizure Tonický záchvat OFFICIAL en zh HP:0032792 rdfs:label Tonic seizure 强直发作 OFFICIAL en ja HP:0032792 rdfs:label Tonic seizure 強直発作 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT @@ -108384,12 +108384,12 @@ en cs HP:0032793 rdfs:label Focal impaired awareness cognitive seizure with rece en zh HP:0032793 rdfs:label Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia 伴复述性失语并意识受损的局灶性知觉发作 OFFICIAL en ja HP:0032793 rdfs:label Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia 受容性失語・失行を伴う局所性意識障害認知発作 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0032793 rdfs:label Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia Convulsión focal cognitiva con pérdida de conciencia con disfasia / afasia receptiva OFFICIAL -en cs HP:0032794 IAO:0000115 A myoclonic seizure is a type of motor seizure characterised by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. Myoklonický záchvat je typ motorického záchvatu charakterizovaný náhlou, krátkou (100 ms) mimovolní kontrakcí jednoho nebo více svalů nebo svalových skupin s různou topografií (axiální, proximální končetiny, distální). Myoklonus je méně pravidelně se opakující a méně trvalý než klonus. CANDIDATE +en cs HP:0032794 IAO:0000115 A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. Myoklonický záchvat je typ motorického záchvatu charakterizovaný náhlou, krátkou (100 ms) mimovolní kontrakcí jednoho nebo více svalů nebo svalových skupin s různou topografií (axiální, proximální končetiny, distální). Myoklonus je méně pravidelně se opakující a méně trvalý než klonus. CANDIDATE en cs HP:0032794 rdfs:label Myoclonic seizure Myoklonický záchvat OFFICIAL en zh HP:0032794 rdfs:label Myoclonic seizure 肌阵挛发作 OFFICIAL en ja HP:0032794 rdfs:label Myoclonic seizure ミオクロニー発作 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0032794 rdfs:label Myoclonic seizure Convulsión mioclónica OFFICIAL -en cs HP:0032795 IAO:0000115 A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterised by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus. Generalizované myoklonicko-tonicko-klonické křeče jsou typem generalizované motorické křeče charakterizované jedním nebo více záškuby končetin oboustranně, po nichž následuje tonická a klonická fáze. Počáteční záškuby lze považovat buď za krátké období klonu, nebo za myoklonus. CANDIDATE +en cs HP:0032795 IAO:0000115 A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterized by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus. Generalizované myoklonicko-tonicko-klonické křeče jsou typem generalizované motorické křeče charakterizované jedním nebo více záškuby končetin oboustranně, po nichž následuje tonická a klonická fáze. Počáteční záškuby lze považovat buď za krátké období klonu, nebo za myoklonus. CANDIDATE en cs HP:0032795 rdfs:label Generalized myoclonic-tonic-clonic seizure Generalizované myoklonicko-tonicko-klonické křeče CANDIDATE en zh HP:0032795 rdfs:label Generalized myoclonic-tonic-clonic seizure 全面性肌阵挛-强直-阵挛性发作 OFFICIAL en ja HP:0032795 rdfs:label Generalized myoclonic-tonic-clonic seizure 全般性ミオクロニー-強直間代発作 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT @@ -108667,7 +108667,7 @@ en cs HP:0032850 rdfs:label Focal aware cognitive seizure with expressive dyspha en zh HP:0032850 rdfs:label Focal aware cognitive seizure with expressive dysphasia/aphasia 伴表达性失语并意识保留的局灶性知觉发作 OFFICIAL en ja HP:0032850 rdfs:label Focal aware cognitive seizure with expressive dysphasia/aphasia 表現障害/失語症を伴う焦点性認知発作 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0032850 rdfs:label Focal aware cognitive seizure with expressive dysphasia/aphasia Convulsión focal cognitiva sin pérdida de conciencia con disfasia / afasia expresiva OFFICIAL -en cs HP:0032851 IAO:0000115 A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis. Záchvat charakterizovaný zrakovými halucinacemi, jako jsou blikající světla/barvy, tvary, jednoduché obrazce, skotomata nebo amauróza. CANDIDATE +en cs HP:0032851 IAO:0000115 A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis. Záchvat charakterizovaný zrakovými halucinacemi, jako jsou blikající světla/barvy, tvary, jednoduché obrazce, skotomata nebo amauróza. CANDIDATE en cs HP:0032851 rdfs:label Focal aware sensory seizure with visual features Fokální senzorický záchvat s vizuálními fenomény bez poruchy vědomí CANDIDATE en zh HP:0032851 rdfs:label Focal aware sensory seizure with visual features 伴视觉特征并意识保留的局灶性感觉发作 OFFICIAL en ja HP:0032851 rdfs:label Focal aware sensory seizure with visual features 視覚特徴を伴う焦点性認知発作 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT @@ -109046,7 +109046,7 @@ en cs HP:0032927 rdfs:label Focal impaired awareness undressing automatism seizu en zh HP:0032927 rdfs:label Focal impaired awareness undressing automatism seizure 局灶性意识受损的脱衣自动症发作 OFFICIAL en ja HP:0032927 rdfs:label Focal impaired awareness undressing automatism seizure 焦点性意識障害脱衣自動症発作 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0032927 rdfs:label Focal impaired awareness undressing automatism seizure Convulsión focal de automatismo al desvestirse con pérdida de la conciencia OFFICIAL -en cs HP:0032928 IAO:0000115 Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large calibre myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases. Lehký řetězec neurofilament (NfL) je neuronální cytoplazmatický protein vysoce exprimovaný v myelinizovaných axonech velkého kalibru. Jeho hladina se zvyšuje v mozkomíšním moku (likvoru) a krvi úměrně stupni axonálního poškození u různých neurologických poruch, včetně zánětlivých, neurodegenerativních, traumatických a cerebrovaskulárních onemocněn CANDIDATE +en cs HP:0032928 IAO:0000115 Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large caliber myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases. Lehký řetězec neurofilament (NfL) je neuronální cytoplazmatický protein vysoce exprimovaný v myelinizovaných axonech velkého kalibru. Jeho hladina se zvyšuje v mozkomíšním moku (likvoru) a krvi úměrně stupni axonálního poškození u různých neurologických poruch, včetně zánětlivých, neurodegenerativních, traumatických a cerebrovaskulárních onemocněn CANDIDATE en cs HP:0032928 rdfs:label Elevated CSF neurofilament light chain concentration Zvýšená koncentrace lehkých řetězců neurofilament v likvoru CANDIDATE en zh HP:0032928 rdfs:label Elevated CSF neurofilament light chain concentration 脑脊液神经丝轻链升高 CANDIDATE en ja HP:0032928 rdfs:label Elevated CSF neurofilament light chain concentration CSFニューロフィラメント軽鎖濃度の上昇 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT @@ -109734,7 +109734,7 @@ en cs HP:0033067 rdfs:label Cystine crystalluria Cystinová krystalurie CANDIDAT en zh HP:0033067 rdfs:label Cystine crystalluria 胱氨酸结晶尿 OFFICIAL en ja HP:0033067 rdfs:label Cystine crystalluria シスチン結晶尿 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0033067 rdfs:label Cystine crystalluria Cristaluria de cistina OFFICIAL -en cs HP:0033068 IAO:0000115 A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber colour. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance. Různé léky mohou příležitostně způsobit přechodnou krystalurii, izolovaně nebo ve spojení s jinými abnormalitami moči. Předávkování, dehydratace nebo hypoalbuminémie, které zvyšují množství nenavázaného léčiva, které je ultrafiltrováno glomerulem, jsou faktory obvykle podporující precipitaci krystalů v lumen tubulů. V některých případech má medikamentózní krystalurie typický fenotypový vzhled. Například krystaly sulfadiazinu se jeví jako silně dvojlomné „stohy pšenice“ nebo „skořápky“ s jantarovou barvou. Krystaly acykloviru jsou dvojlomné a jehličkovité, a když jsou hojné, dávají moči hedvábný a opaleskující makroskopický vzhled. CANDIDATE +en cs HP:0033068 IAO:0000115 A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber color. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance. Různé léky mohou příležitostně způsobit přechodnou krystalurii, izolovaně nebo ve spojení s jinými abnormalitami moči. Předávkování, dehydratace nebo hypoalbuminémie, které zvyšují množství nenavázaného léčiva, které je ultrafiltrováno glomerulem, jsou faktory obvykle podporující precipitaci krystalů v lumen tubulů. V některých případech má medikamentózní krystalurie typický fenotypový vzhled. Například krystaly sulfadiazinu se jeví jako silně dvojlomné „stohy pšenice“ nebo „skořápky“ s jantarovou barvou. Krystaly acykloviru jsou dvojlomné a jehličkovité, a když jsou hojné, dávají moči hedvábný a opaleskující makroskopický vzhled. CANDIDATE en cs HP:0033068 rdfs:label Medication crystalluria Medikamentózní krystalurie CANDIDATE en zh HP:0033068 rdfs:label Medication crystalluria 药物结晶尿 OFFICIAL en ja HP:0033068 rdfs:label Medication crystalluria 薬物結晶尿 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT @@ -110024,7 +110024,7 @@ en cs HP:0033125 rdfs:label Follicular lymphoma Folikulární lymfom CANDIDATE en zh HP:0033125 rdfs:label Follicular lymphoma 滤泡淋巴瘤 OFFICIAL en ja HP:0033125 rdfs:label Follicular lymphoma 濾胞性リンパ腫 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0033125 rdfs:label Follicular lymphoma Linfoma folicular OFFICIAL -en cs HP:0033126 IAO:0000115 Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red coloured skin. Nekróza kůže a podkožní tkáně (odumření tkáně). Klinicky se kožní nekróza může projevovat jako bolestivá a extrémně citlivá černá eschara (odumřelá tkáň v ráně v celé tloušťce) obklopená tmavě šedočerveně zbarvenou kůží. CANDIDATE +en cs HP:0033126 IAO:0000115 Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red colored skin. Nekróza kůže a podkožní tkáně (odumření tkáně). Klinicky se kožní nekróza může projevovat jako bolestivá a extrémně citlivá černá eschara (odumřelá tkáň v ráně v celé tloušťce) obklopená tmavě šedočerveně zbarvenou kůží. CANDIDATE en cs HP:0033126 rdfs:label Cutaneous necrosis Kožní nekróza CANDIDATE en zh HP:0033126 rdfs:label Cutaneous necrosis 皮肤坏死 OFFICIAL en ja HP:0033126 rdfs:label Cutaneous necrosis 皮膚壊死 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT @@ -111128,7 +111128,7 @@ en cs HP:0033348 rdfs:label Epileptic aura Epileptická aura CANDIDATE en zh HP:0033348 rdfs:label Epileptic aura 癫痫先兆 OFFICIAL en ja HP:0033348 rdfs:label Epileptic aura てんかん性前兆 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0033348 rdfs:label Epileptic aura Aura epiléptica OFFICIAL -en cs HP:0033349 IAO:0000115 A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognisable by the primary clinician, carer or patient. Čtyřnásobné nebo větší zvýšení obvyklé frekvence záchvatů během třídenního období, kdy pacient prokáže úplné zotavení mezi jednotlivými záchvaty v rámci nakupení. Nakupení záchvatů by mělo být rozpoznatelné pro primárního lékaře, ošetřovatele nebo pacienta. CANDIDATE +en cs HP:0033349 IAO:0000115 A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognizable by the primary clinician, carer or patient. Čtyřnásobné nebo větší zvýšení obvyklé frekvence záchvatů během třídenního období, kdy pacient prokáže úplné zotavení mezi jednotlivými záchvaty v rámci nakupení. Nakupení záchvatů by mělo být rozpoznatelné pro primárního lékaře, ošetřovatele nebo pacienta. CANDIDATE en cs HP:0033349 rdfs:label Seizure cluster Nakupení záchvatů CANDIDATE en zh HP:0033349 rdfs:label Seizure cluster 成簇癫痫发作 OFFICIAL en ja HP:0033349 rdfs:label Seizure cluster けいれん群発 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT @@ -111373,7 +111373,7 @@ en cs HP:0033397 rdfs:label Bowman-space proteinaceous debris Proteínová debri en zh HP:0033397 rdfs:label Bowman-space proteinaceous debris 肾小囊腔蛋白质碎片 OFFICIAL en ja HP:0033397 rdfs:label Bowman-space proteinaceous debris ボーマン腔蛋白質破片 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0033397 rdfs:label Bowman-space proteinaceous debris Desechos proteicos del espacio Bowman OFFICIAL -en cs HP:0033398 IAO:0000115 Deposits of hyalinized collagen fibres in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs). Uložení hyalinizovaných kolagenních vláken v parietální pleuře (přednostně v pleuře přiléhající k žebrům, zejména k šestému až devátému žebru). CANDIDATE +en cs HP:0033398 IAO:0000115 Deposits of hyalinized collagen fibers in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs). Uložení hyalinizovaných kolagenních vláken v parietální pleuře (přednostně v pleuře přiléhající k žebrům, zejména k šestému až devátému žebru). CANDIDATE en cs HP:0033398 rdfs:label Pleural plaque Pleurální plak CANDIDATE en zh HP:0033398 rdfs:label Pleural plaque 胸模斑 OFFICIAL en ja HP:0033398 rdfs:label Pleural plaque 胸膜プラーク OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT @@ -111602,7 +111602,7 @@ en cs HP:0033443 rdfs:label Elevated circulating propionylcarnitine concentratio en zh HP:0033443 rdfs:label Elevated circulating propionylcarnitine concentration 循环丙基肉碱浓度升高 OFFICIAL en ja HP:0033443 rdfs:label Elevated circulating propionylcarnitine concentration 循環中プロピオニルカルニチン濃度の上昇 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0033443 rdfs:label Elevated circulating propionylcarnitine concentration Elevación de la concentración de propionilcarnitina circulante OFFICIAL -en cs HP:0033444 IAO:0000115 Concentration of dodecanoylcarnitine in the blood circulation above the upper limit of normal. Zvýšená koncentrace dodekanoylkarnitinu v krevním oběhu CANDIDATE +en cs HP:0033444 IAO:0000115 Concentration of dodecanoylcarnitine (C12:0) in the blood circulation above the upper limit of normal. Zvýšená koncentrace dodekanoylkarnitinu v krevním oběhu CANDIDATE en cs HP:0033444 rdfs:label Elevated circulating dodecanoylcarnitine concentration Zvýšená koncentrace cirkulujícího dodekanoylkarnitinu CANDIDATE en zh HP:0033444 rdfs:label Elevated circulating dodecanoylcarnitine concentration 循环十二碳酰肉碱浓度升高 OFFICIAL en ja HP:0033444 rdfs:label Elevated circulating dodecanoylcarnitine concentration 循環ドデカノイルカルニチン濃度の上昇 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT @@ -112129,7 +112129,7 @@ en cs HP:0033551 rdfs:label Non-necrotizing pulmonary granulomatosis Nenekrotizu en zh HP:0033551 rdfs:label Non-necrotizing pulmonary granulomatosis 非坏死性肺肉芽肿病 OFFICIAL en ja HP:0033551 rdfs:label Non-necrotizing pulmonary granulomatosis 非壊死性肺肉芽腫症 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0033551 rdfs:label Non-necrotizing pulmonary granulomatosis Granulomatosis pulmonar no necrotizante OFFICIAL -en cs HP:0033552 IAO:0000115 Villitis of unknown etiology (synonymous with villitis of unknown aetiology) is a histologic diagnosis and, although it may have a variable distribution, evidence indicates that 3 parenchymal blocks will identify 62% of villitis, reaching an asymptote of 6 and 7 blocks identifying 85% of villitis. Villitis of unknown etiology by definition excludes those cases where an etiology is identified, such as viral or acute infections, and thus is preferred to the term nonspecific chronic villitis. It is usually lymphohistiocytic: although the presence of rare plasma cells does not exclude the diagnosis, thorough evaluation for an infectious etiology, such as cytomegalovirus, is required in a predominantly plasma cell villitis. Zánět choriových klků (vilitida) neznámé etiologie je histologická diagnóza, a přestože může mít proměnnou distribuci, důkazy naznačují, že 3 parenchymální bloky identifikují 62 % vilitidy a dosahují asymptoty 6 a 7 bloků identifikujících 85 % vilitidy. Vilitida neznámé etiologie podle definice vylučuje ty případy, kdy je identifikována etiologie, jako jsou virové nebo akutní infekce, a proto se jí dává přednost před termínem nespecifická chronická vilitida. Obvykle je lymfohistiocytární: ačkoli přítomnost vzácných plazmatických buněk nevylučuje diagnózu, u převážně plazmatické vilitidy je nutné důkladné vyšetření infekční etiologie, jako je cytomegalovirus. CANDIDATE +en cs HP:0033552 IAO:0000115 Villitis of unknown etiology (synonymous with villitis of unknown etiology) is a histologic diagnosis and, although it may have a variable distribution, evidence indicates that 3 parenchymal blocks will identify 62% of villitis, reaching an asymptote of 6 and 7 blocks identifying 85% of villitis. Villitis of unknown etiology by definition excludes those cases where an etiology is identified, such as viral or acute infections, and thus is preferred to the term nonspecific chronic villitis. It is usually lymphohistiocytic: although the presence of rare plasma cells does not exclude the diagnosis, thorough evaluation for an infectious etiology, such as cytomegalovirus, is required in a predominantly plasma cell villitis. Zánět choriových klků (vilitida) neznámé etiologie je histologická diagnóza, a přestože může mít proměnnou distribuci, důkazy naznačují, že 3 parenchymální bloky identifikují 62 % vilitidy a dosahují asymptoty 6 a 7 bloků identifikujících 85 % vilitidy. Vilitida neznámé etiologie podle definice vylučuje ty případy, kdy je identifikována etiologie, jako jsou virové nebo akutní infekce, a proto se jí dává přednost před termínem nespecifická chronická vilitida. Obvykle je lymfohistiocytární: ačkoli přítomnost vzácných plazmatických buněk nevylučuje diagnózu, u převážně plazmatické vilitidy je nutné důkladné vyšetření infekční etiologie, jako je cytomegalovirus. CANDIDATE en cs HP:0033552 rdfs:label Chronic villitis Chronická villitida CANDIDATE en zh HP:0033552 rdfs:label Chronic villitis 慢性绒毛炎 OFFICIAL en ja HP:0033552 rdfs:label Chronic villitis 慢性絨毛炎 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT @@ -112259,7 +112259,7 @@ en cs HP:0033577 rdfs:label In situ pulmonary artery thrombosis Trombóza plicn en zh HP:0033577 rdfs:label In situ pulmonary artery thrombosis 原位肺动脉血栓形成 OFFICIAL en ja HP:0033577 rdfs:label In situ pulmonary artery thrombosis その場肺動脈血栓症 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0033577 rdfs:label In situ pulmonary artery thrombosis Trombosis in situ de la arteria pulmonar OFFICIAL -en cs HP:0033578 IAO:0000115 Pre-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg). Prekapilární plicní hypertenze je hemodynamický stav charakterizovaný zvýšeným středním tlakem v plicnici (mPAP nad 20 mmHg) a plicním cévním odporem (PVR 3 Woodovy jednotky nebo více) doprovázeným normálním tlakem v zaklínění plicnice (PAWP nejvýše 15 mmHg). CANDIDATE +en cs HP:0033578 IAO:0000115 Pre-capillary pulmonary hypertension is a haemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg). Prekapilární plicní hypertenze je hemodynamický stav charakterizovaný zvýšeným středním tlakem v plicnici (mPAP nad 20 mmHg) a plicním cévním odporem (PVR 3 Woodovy jednotky nebo více) doprovázeným normálním tlakem v zaklínění plicnice (PAWP nejvýše 15 mmHg). CANDIDATE en cs HP:0033578 rdfs:label Pre-capillary pulmonary hypertension Prekapilární plicní hypertenze CANDIDATE en zh HP:0033578 rdfs:label Pre-capillary pulmonary hypertension 毛细血管前肺动脉高压 OFFICIAL en ja HP:0033578 rdfs:label Pre-capillary pulmonary hypertension 前毛細管性肺高血圧症 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT @@ -112269,7 +112269,7 @@ en cs HP:0033579 rdfs:label Decreased growth hormone responses to growth hormone en zh HP:0033579 rdfs:label Decreased growth hormone responses to growth hormone-releasing hormone challenge 生长激素释放激素激发后生长激素分泌不足 OFFICIAL en ja HP:0033579 rdfs:label Decreased growth hormone responses to growth hormone-releasing hormone challenge 成長ホルモン放出ホルモン負荷に対する成長ホルモン反応の低下 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0033579 rdfs:label Decreased growth hormone responses to growth hormone-releasing hormone challenge Disminución de respuesta de la hormona del crecimiento al desafío de la hormona liberadora de la hormona del crecimiento OFFICIAL -en cs HP:0033580 IAO:0000115 An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibres in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fibre action potentials. The shortest latency of the CMAP is the time from stimulus artefact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV). Abnormální nález při měření sumačního akčního potenciálu u EMG. Studie nervového vedení zahrnují aplikaci depolarizujících elektrických pulzů vln obdélnikového průběhu na kůži přes periferní nerv, čímž se vytvoří: (1) šířící se nervový akční potenciál (NAP) zaznamenaný ve vzdáleném bodě stejného nervu: a (2) sumární akční potenciál svalu (CMAP) vznikající aktivací svalových vláken v cílovém svalu zásobovaném nervem. Oba druhy mohou být zaznamenány povrchovými nebo jehlovými elektrodami. CMAP je souhrnná napěťová odezva z jednotlivých akčních potenciálů svalových vláken. Nejkratší latence CMAP je doba od stimulačního artefaktu do nástupu odpovědi a jedná se o dvoufázovou odezvu s počáteční výchylkou nahoru, po níž následuje menší výchylka dolů. Amplituda CMAP se měří od základní čáry po zápornou špičku (neurofyziologická konvence je, že záporné napětí se projevuje odchylkou směrem nahoru) a měří se v milivoltech (mV). CANDIDATE +en cs HP:0033580 IAO:0000115 An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibers in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fiber action potentials. The shortest latency of the CMAP is the time from stimulus artifact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV). Abnormální nález při měření sumačního akčního potenciálu u EMG. Studie nervového vedení zahrnují aplikaci depolarizujících elektrických pulzů vln obdélnikového průběhu na kůži přes periferní nerv, čímž se vytvoří: (1) šířící se nervový akční potenciál (NAP) zaznamenaný ve vzdáleném bodě stejného nervu: a (2) sumární akční potenciál svalu (CMAP) vznikající aktivací svalových vláken v cílovém svalu zásobovaném nervem. Oba druhy mohou být zaznamenány povrchovými nebo jehlovými elektrodami. CMAP je souhrnná napěťová odezva z jednotlivých akčních potenciálů svalových vláken. Nejkratší latence CMAP je doba od stimulačního artefaktu do nástupu odpovědi a jedná se o dvoufázovou odezvu s počáteční výchylkou nahoru, po níž následuje menší výchylka dolů. Amplituda CMAP se měří od základní čáry po zápornou špičku (neurofyziologická konvence je, že záporné napětí se projevuje odchylkou směrem nahoru) a měří se v milivoltech (mV). CANDIDATE en cs HP:0033580 rdfs:label Compound motor action potential abnormality Abnormalita sumačního akčního potenciálu CANDIDATE en zh HP:0033580 rdfs:label Compound motor action potential abnormality 复合肌肉动作电位异常 OFFICIAL en ja HP:0033580 rdfs:label Compound motor action potential abnormality 複合運動活動電位異常 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT @@ -112434,7 +112434,7 @@ en cs HP:0033612 rdfs:label Pure ground-glass pulmonary nodule Plicní uzel char en zh HP:0033612 rdfs:label Pure ground-glass pulmonary nodule 纯毛玻璃样肺结节 OFFICIAL en ja HP:0033612 rdfs:label Pure ground-glass pulmonary nodule 純地球性肺結節 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0033612 rdfs:label Pure ground-glass pulmonary nodule Nódulo pulmonar puro en vidrio esmerilado OFFICIAL -en cs HP:0033613 IAO:0000115 Solid, homogenous nodules characterised by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes. Pevné, homogenní noduly vyznačující se hladkým okrajem a oválným, zaobleným, lentiformním nebo trojúhelníkovým tvarem. Obvykle se nacházejí do 15 mm od abnormality nebo od pleury. Perifisurální noduly lze dále rozlišovat na typické (mají kontakt s interlobární přepážkou) a atypické (nemají kontakt s interlobární přepážkou). Pravděpodobně představují intrapulmonální lymfatické uzliny. CANDIDATE +en cs HP:0033613 IAO:0000115 Solid, homogenous nodules characterized by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes. Pevné, homogenní noduly vyznačující se hladkým okrajem a oválným, zaobleným, lentiformním nebo trojúhelníkovým tvarem. Obvykle se nacházejí do 15 mm od abnormality nebo od pleury. Perifisurální noduly lze dále rozlišovat na typické (mají kontakt s interlobární přepážkou) a atypické (nemají kontakt s interlobární přepážkou). Pravděpodobně představují intrapulmonální lymfatické uzliny. CANDIDATE en cs HP:0033613 rdfs:label Perifissural pulmonary nodule Perifisurální plicní uzlík CANDIDATE en zh HP:0033613 rdfs:label Perifissural pulmonary nodule 裂周肺结节 OFFICIAL en ja HP:0033613 rdfs:label Perifissural pulmonary nodule 裂孔周囲肺結節 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT @@ -112544,12 +112544,12 @@ en cs HP:0033634 rdfs:label Increased alveolar volume Zvýšený alveolární ob en zh HP:0033634 rdfs:label Increased alveolar volume 肺泡容积升高 OFFICIAL en ja HP:0033634 rdfs:label Increased alveolar volume 肺胞容積の増加 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0033634 rdfs:label Increased alveolar volume Aumento del volumen alveolar OFFICIAL -en cs HP:0033635 IAO:0000115 Post-capillary pulmonary hypertension is a hemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units). Postkapilární plicní hypertenze je hemodynamický stav charakterizovaný zvýšeným středním tlakem v plicnici (mPAP větší než 20 mmHg) a tlakem v zaklínění plicnice (PAWP větší než 15 mmHg) a plicní vaskulární rezistencí (PVR menší než 3 Woodovy jednotky). CANDIDATE +en cs HP:0033635 IAO:0000115 Post-capillary pulmonary hypertension is a hemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units). Postkapilární plicní hypertenze je hemodynamický stav charakterizovaný zvýšeným středním tlakem v plicnici (mPAP větší než 20 mmHg) a tlakem v zaklínění plicnice (PAWP větší než 15 mmHg) a plicní vaskulární rezistencí (PVR menší než 3 Woodovy jednotky). CANDIDATE en cs HP:0033635 rdfs:label Post-capillary pulmonary hypertension Postkapilární plicní hypertenze CANDIDATE en zh HP:0033635 rdfs:label Post-capillary pulmonary hypertension 毛细血管后肺动脉高压 OFFICIAL en ja HP:0033635 rdfs:label Post-capillary pulmonary hypertension 毛細血管後肺高血圧症 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0033635 rdfs:label Post-capillary pulmonary hypertension Hipertensión pulmonar poscapilar OFFICIAL -en cs HP:0033636 IAO:0000115 Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units). Kombinovaná pre- a postkapilární plicní hypertenze je hemodynamický stav charakterizovaný zvýšeným středním tlakem v plicnici (mPAP nad 20 mmHg) a tlakem v zaklínění plicnice (PAWP nad 15 mmHg) a plicní vaskulární rezistencí (PVR alespoň 3 Woddovy jednotky). CANDIDATE +en cs HP:0033636 IAO:0000115 Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units). Kombinovaná pre- a postkapilární plicní hypertenze je hemodynamický stav charakterizovaný zvýšeným středním tlakem v plicnici (mPAP nad 20 mmHg) a tlakem v zaklínění plicnice (PAWP nad 15 mmHg) a plicní vaskulární rezistencí (PVR alespoň 3 Woddovy jednotky). CANDIDATE en cs HP:0033636 rdfs:label Combined pre- and post-capillary pulmonary hypertension Kombinovaná prekapilární a postkapilární plicní hypertenze CANDIDATE en zh HP:0033636 rdfs:label Combined pre- and post-capillary pulmonary hypertension 毛细血管前后混合肺动脉高压 OFFICIAL en ja HP:0033636 rdfs:label Combined pre- and post-capillary pulmonary hypertension 毛細血管前および毛細血管後の複合肺高血圧症 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT @@ -112766,7 +112766,7 @@ en cs HP:0033679 rdfs:label Abnormal red nucleus morphology Abnormální morfolo en zh HP:0033679 rdfs:label Abnormal red nucleus morphology 红核形态异常 OFFICIAL en ja HP:0033679 rdfs:label Abnormal red nucleus morphology 赤核形態異常 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0033679 rdfs:label Abnormal red nucleus morphology Morfología anormal del núcleo rojo OFFICIAL -en cs HP:0033680 IAO:0000115 The most common form of astrocytoma (WHO Grade I) in childhood. These typically have MAPK signalling pathway abnormalities. Nejčastější forma astrocytomu (WHO grade I) v dětském věku. Obvykle se u nich vyskytují abnormality signální dráhy MAPK. CANDIDATE +en cs HP:0033680 IAO:0000115 The most common form of astrocytoma (WHO Grade I) in childhood. These typically have MAPK signaling pathway abnormalities. Nejčastější forma astrocytomu (WHO grade I) v dětském věku. Obvykle se u nich vyskytují abnormality signální dráhy MAPK. CANDIDATE en cs HP:0033680 rdfs:label Pilocytic astrocytoma Pilocytární astrocytom CANDIDATE en zh HP:0033680 rdfs:label Pilocytic astrocytoma 毛细胞型星型细胞瘤 OFFICIAL en ja HP:0033680 rdfs:label Pilocytic astrocytoma 小球性星細胞腫 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT @@ -115318,7 +115318,7 @@ en cs HP:0034191 rdfs:label Elevated fetal middle cerebral artery peak systolic en zh HP:0034191 rdfs:label Elevated fetal middle cerebral artery peak systolic velocity 胎儿大脑中动脉收缩期峰值流速上升 OFFICIAL en ja HP:0034191 rdfs:label Elevated fetal middle cerebral artery peak systolic velocity 胎児中大脳動脈収縮期最高速度の上昇 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0034191 rdfs:label Elevated fetal middle cerebral artery peak systolic velocity Elevación de la velocidad sistólica máxima de la arteria cerebral media fetal OFFICIAL -en cs HP:0034192 IAO:0000115 Pulmonary embolism is caused by emboli, which have originated from venous thrombi, travelling to and occluding the arteries of the lung. Plicní embolie je způsobena emboliemi, které pocházejí z žilních trombů, putují do plicních tepen a ucpávají je. CANDIDATE +en cs HP:0034192 IAO:0000115 Pulmonary embolism is caused by emboli, which have originated from venous thrombi, traveling to and occluding the arteries of the lung. Plicní embolie je způsobena emboliemi, které pocházejí z žilních trombů, putují do plicních tepen a ucpávají je. CANDIDATE en cs HP:0034192 rdfs:label Pulmonary thromboembolism Plicní tromboembolizace CANDIDATE en zh HP:0034192 rdfs:label Pulmonary thromboembolism 肺血栓栓塞症 OFFICIAL en ja HP:0034192 rdfs:label Pulmonary thromboembolism 肺血栓塞栓症 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT @@ -115866,7 +115866,7 @@ en cs HP:0034301 rdfs:label Congenital pouch colon Vrozené vychlípení tlusté en zh HP:0034301 rdfs:label Congenital pouch colon 先天性袋状结肠 OFFICIAL en ja HP:0034301 rdfs:label Congenital pouch colon 先天性袋状結腸 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0034301 rdfs:label Congenital pouch colon "Malformación anorectal congénita con ""colon en bolsa""" OFFICIAL -en cs HP:0034302 IAO:0000115 A congenitally anomalous enlarged optic disk (surface area greater than 2.50 square millimeters). It is considered to be a normal variant without physiological defects. Vrozeně anomálně zvětšený optický disk (plocha větší než 2,50 milimetru čtverečních). Považuje se za normální variantu bez fyziologických defektů. CANDIDATE +en cs HP:0034302 IAO:0000115 A congenitally anomalous enlarged optic disc (surface area greater than 2.50 square millimeters). It is considered to be a normal variant without physiological defects. Vrozeně anomálně zvětšený optický disk (plocha větší než 2,50 milimetru čtverečních). Považuje se za normální variantu bez fyziologických defektů. CANDIDATE en cs HP:0034302 rdfs:label Megalopapilla Megalopapila CANDIDATE en zh HP:0034302 rdfs:label Megalopapilla 巨大视乳头 OFFICIAL en ja HP:0034302 rdfs:label Megalopapilla メガロパピラ OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT @@ -116289,12 +116289,12 @@ en cs HP:0034387 rdfs:label Bacterial encephalitis Bakteriální encefalitida CA en zh HP:0034387 rdfs:label Bacterial encephalitis 细菌性脑炎 OFFICIAL en ja HP:0034387 rdfs:label Bacterial encephalitis 細菌性脳炎 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0034387 rdfs:label Bacterial encephalitis Encefalitis bacteriana OFFICIAL -en cs HP:0034388 IAO:0000115 Hilar lymphadenopathy is swelling or enlargement of lymph nodes localised in hila, wedge-shaped anatomical structures containing pulmonary vessels, major bronchi, nerves and lymph nodes. Hilar lymph nodes are not visible on chest X-ray if they are not enlarged. Hilar lymph node enlargement can be caused by benign and malignant conditions and can be symmetrical (bilateral) or asymmetrical (unilateral). Hilová lymfadenopatie je zduření nebo zvětšení lymfatických uzlin lokalizovaných v hilu, klínovité anatomické struktuře obsahující plicní cévy, hlavní průdušky, nervy a lymfatické uzliny. Hilové lymfatické uzliny nejsou na rentgenovém snímku hrudníku viditelné, pokud nejsou zvětšené. Zvětšení hilových lymfatických uzlin může být způsobeno benigními i maligními stavy a může být symetrické (oboustranné) nebo asymetrické (jednostranné). CANDIDATE +en cs HP:0034388 IAO:0000115 Hilar lymphadenopathy is swelling or enlargement of lymph nodes localized in hila, wedge-shaped anatomical structures containing pulmonary vessels, major bronchi, nerves and lymph nodes. Hilar lymph nodes are not visible on chest X-ray if they are not enlarged. Hilar lymph node enlargement can be caused by benign and malignant conditions and can be symmetrical (bilateral) or asymmetrical (unilateral). Hilová lymfadenopatie je zduření nebo zvětšení lymfatických uzlin lokalizovaných v hilu, klínovité anatomické struktuře obsahující plicní cévy, hlavní průdušky, nervy a lymfatické uzliny. Hilové lymfatické uzliny nejsou na rentgenovém snímku hrudníku viditelné, pokud nejsou zvětšené. Zvětšení hilových lymfatických uzlin může být způsobeno benigními i maligními stavy a může být symetrické (oboustranné) nebo asymetrické (jednostranné). CANDIDATE en cs HP:0034388 rdfs:label Hilar lymph node enlargement Zvětšení hilových lymfatických uzlin CANDIDATE en zh HP:0034388 rdfs:label Hilar lymph node enlargement 肺门淋巴结肿大 OFFICIAL en ja HP:0034388 rdfs:label Hilar lymph node enlargement 肝門部リンパ節腫大 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0034388 rdfs:label Hilar lymph node enlargement Agrandamiento de los ganglios linfáticos hiliares OFFICIAL -en cs HP:0034389 IAO:0000115 Pulmonary vein varix (PVV), refers to a localised dilatation of a pulmonary vein. PVV is a rare condition and can be congenital or acquired. PVV typically occur at the confluence of the veins adjacent to the left atrium. PVVs are sometimes classified into three morphological types: saccular, tortuous and confluent. Varixy plicních žil jsou lokalizované dilatace plicních žil. Jde o vzácný stav, který může být vrozený, nebo získaný. Obvykle se vyskytují na soutoku žil přiléhajících k levé síni. Někdy se dělí na tři morfologické typy: vakovité, tortuózní a splývající. CANDIDATE +en cs HP:0034389 IAO:0000115 Pulmonary vein varix (PVV), refers to a localized dilatation of a pulmonary vein. PVV is a rare condition and can be congenital or acquired. PVV typically occur at the confluence of the veins adjacent to the left atrium. PVVs are sometimes classified into three morphological types: saccular, tortuous and confluent. Varixy plicních žil jsou lokalizované dilatace plicních žil. Jde o vzácný stav, který může být vrozený, nebo získaný. Obvykle se vyskytují na soutoku žil přiléhajících k levé síni. Někdy se dělí na tři morfologické typy: vakovité, tortuózní a splývající. CANDIDATE en cs HP:0034389 rdfs:label Pulmonary vein varix Varixy plicních žil CANDIDATE en zh HP:0034389 rdfs:label Pulmonary vein varix 肺静脉曲张 OFFICIAL en ja HP:0034389 rdfs:label Pulmonary vein varix 肺静脈瘤 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT @@ -117769,8 +117769,8 @@ en ja HP:0034993 rdfs:label Hip internal rotation contracture 股関節内旋拘 en es HP:0034993 rdfs:label Hip internal rotation contracture Contractura de rotación interna de cadera OFFICIAL en ja HP:0034994 rdfs:label obsolete Elevated circulating saccharopine concentration 循環サッカロピン濃度の上昇 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0034994 rdfs:label obsolete Elevated circulating saccharopine concentration Aumento de la concentración de sacaropina circulante CANDIDATE -en ja HP:0034995 rdfs:label Reduced hepatic fructose-1,6-bisphosphatase activity 肝フルクトース-1,6-ビスホスファターゼ活性の低下 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT -en es HP:0034995 rdfs:label Reduced hepatic fructose-1,6-bisphosphatase activity Disminución de la actividad de la fructosa-1,6-bisfosfatasa hepática OFFICIAL +en ja HP:0034995 rdfs:label Reduced tissue fructose-1,6-bisphosphatase activity 肝フルクトース-1,6-ビスホスファターゼ活性の低下 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT +en es HP:0034995 rdfs:label Reduced tissue fructose-1,6-bisphosphatase activity Disminución de la actividad de la fructosa-1,6-bisfosfatasa hepática CANDIDATE en ja HP:0034996 rdfs:label Reduced hepatic carbamoylphosphate synthetase 1 activity 肝カルバモイルリン酸合成酵素活性の低下 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0034996 rdfs:label Reduced hepatic carbamoylphosphate synthetase 1 activity Disminución de la actividad de la carbamoilfosfato sintetasa hepática. CANDIDATE en ja HP:0034997 rdfs:label Reduced intraepidermal small nerve fiber density 表皮内小神経線維密度の減少 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT @@ -118150,13 +118150,13 @@ en tr HP:0040056 rdfs:label Absent upper eyelashes Üst kirpik yokluğu OFFICIAL en zh HP:0040056 rdfs:label Absent upper eyelashes 上睫缺如 OFFICIAL en ja HP:0040056 rdfs:label Absent upper eyelashes 上まつげの異常 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0040056 rdfs:label Absent upper eyelashes Ausencia de pestañas superiores OFFICIAL -en nl HP:0040057 rdfs:label Abnormality of nasal hair Afwijking van nasale haar CANDIDATE -en fr HP:0040057 rdfs:label Abnormality of nasal hair Anomalie des poils du nez OFFICIAL label of HP:0040057 (Abnormality of nasal hair) ; abnormality of the integument ; abnormality of head or neck -en cs HP:0040057 rdfs:label Abnormality of nasal hair Abnormalita chloupků v nose OFFICIAL -en tr HP:0040057 rdfs:label Abnormality of nasal hair Burun kılı anormalliği OFFICIAL -en zh HP:0040057 rdfs:label Abnormality of nasal hair 鼻毛异常 OFFICIAL -en ja HP:0040057 rdfs:label Abnormality of nasal hair 鼻毛の異常 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT -en es HP:0040057 rdfs:label Abnormality of nasal hair Anomalía del pelo nasal OFFICIAL +en nl HP:0040057 rdfs:label Abnormal nasal hair morphology Afwijking van nasale haar CANDIDATE +en fr HP:0040057 rdfs:label Abnormal nasal hair morphology Anomalie des poils du nez CANDIDATE label of HP:0040057 (Abnormality of nasal hair) ; abnormality of the integument ; abnormality of head or neck +en cs HP:0040057 rdfs:label Abnormal nasal hair morphology Abnormalita chloupků v nose CANDIDATE +en tr HP:0040057 rdfs:label Abnormal nasal hair morphology Burun kılı anormalliği CANDIDATE +en zh HP:0040057 rdfs:label Abnormal nasal hair morphology 鼻毛异常 CANDIDATE +en ja HP:0040057 rdfs:label Abnormal nasal hair morphology 鼻毛の異常 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT +en es HP:0040057 rdfs:label Abnormal nasal hair morphology Anomalía del pelo nasal CANDIDATE en nl HP:0040059 rdfs:label Calcification of ribs Calcificaties van de ribben CANDIDATE en fr HP:0040059 rdfs:label Calcification of ribs Calcification des côtes OFFICIAL label of HP:0040059 (Calcification of ribs) ; abnormality of the skeletal system en cs HP:0040059 rdfs:label Calcification of ribs Kalcifikace žeber OFFICIAL @@ -118600,13 +118600,13 @@ en tr HP:0040129 rdfs:label Abnormal nerve conduction velocity Anormal sinir ile en zh HP:0040129 rdfs:label Abnormal nerve conduction velocity 神经传导速度异常 OFFICIAL en ja HP:0040129 rdfs:label Abnormal nerve conduction velocity 神経伝導速度異常 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0040129 rdfs:label Abnormal nerve conduction velocity Velocidad de conducción nerviosa anormal OFFICIAL -en nl HP:0040130 rdfs:label Abnormal serum iron concentration Afwijkend serum ijzer CANDIDATE -en fr HP:0040130 rdfs:label Abnormal serum iron concentration Taux plasmatique anormal de fer OFFICIAL label of HP:0040130 (Abnormal serum iron concentration) ; abnormality of metabolism/homeostasis -en cs HP:0040130 rdfs:label Abnormal serum iron concentration Abnormální koncentrace železa v séru OFFICIAL -en tr HP:0040130 rdfs:label Abnormal serum iron concentration Anormal serum demiri OFFICIAL -en zh HP:0040130 rdfs:label Abnormal serum iron concentration 血清铁异常 OFFICIAL -en ja HP:0040130 rdfs:label Abnormal serum iron concentration 血清鉄濃度異常 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT -en es HP:0040130 rdfs:label Abnormal serum iron concentration Hierro sérico anormal OFFICIAL +en nl HP:0040130 rdfs:label Abnormal circulating iron concentration Afwijkend serum ijzer CANDIDATE +en fr HP:0040130 rdfs:label Abnormal circulating iron concentration Taux plasmatique anormal de fer CANDIDATE label of HP:0040130 (Abnormal serum iron concentration) ; abnormality of metabolism/homeostasis +en cs HP:0040130 rdfs:label Abnormal circulating iron concentration Abnormální koncentrace železa v séru CANDIDATE +en tr HP:0040130 rdfs:label Abnormal circulating iron concentration Anormal serum demiri CANDIDATE +en zh HP:0040130 rdfs:label Abnormal circulating iron concentration 血清铁异常 CANDIDATE +en ja HP:0040130 rdfs:label Abnormal circulating iron concentration 血清鉄濃度異常 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT +en es HP:0040130 rdfs:label Abnormal circulating iron concentration Hierro sérico anormal CANDIDATE en nl HP:0040131 rdfs:label Abnormal motor nerve conduction velocity Afwijkende motorische zenuwgeleidingssnelheid CANDIDATE en fr HP:0040131 rdfs:label Abnormal motor nerve conduction velocity Vitesse de conduction nerveuse motrice anormale OFFICIAL label of HP:0040131 (Abnormal motor nerve conduction velocity) ; abnormality of the nervous system en cs HP:0040131 rdfs:label Abnormal motor nerve conduction velocity Abnormální rychlost vedení motorického nervu OFFICIAL @@ -118687,15 +118687,15 @@ en tr HP:0040141 rdfs:label Tardive dyskinesia Tardiv diskinezi OFFICIAL en zh HP:0040141 rdfs:label Tardive dyskinesia 迟发性运动障碍 OFFICIAL en ja HP:0040141 rdfs:label Tardive dyskinesia 遅発性ジスキネジア OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0040141 rdfs:label Tardive dyskinesia Disquinesia tardía OFFICIAL -en cs HP:0040142 IAO:0000115 Decreased level of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate. Snížená aktivita reakce 5-oxo-L-prolin + ATP + 2 H(2)O = L-glutamát + ADP + 2 H(+) + fosfát OFFICIAL -en tr HP:0040142 IAO:0000115 Decreased level of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate. 5-okso-L-prolin + ATP + 2 H(2)O = L-glutamat + ADP + 2 H(+) + fosfat reaksiyonunun azalmış aktivitesi CANDIDATE -en nl HP:0040142 rdfs:label Reduced 5-oxoprolinase level 5-oxoprolinase deficiëntie CANDIDATE -en fr HP:0040142 rdfs:label Reduced 5-oxoprolinase level Diminution de l'activité 5-oxoprolinase CANDIDATE label of HP:0040142 (Reduced 5-oxoprolinase activity) ; abnormality of metabolism/homeostasis -en cs HP:0040142 rdfs:label Reduced 5-oxoprolinase level Snížená hladina 5-oxoprolinázy OFFICIAL -en tr HP:0040142 rdfs:label Reduced 5-oxoprolinase level 5-okzoprolinaz eksikliği CANDIDATE -en zh HP:0040142 rdfs:label Reduced 5-oxoprolinase level 5-羟脯氨酸酶缺乏症 OFFICIAL -en ja HP:0040142 rdfs:label Reduced 5-oxoprolinase level 5-オキソプロリナーゼ値の低下 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT -en es HP:0040142 rdfs:label Reduced 5-oxoprolinase level Deficiencia de 5-oxoprolinasa CANDIDATE +en cs HP:0040142 IAO:0000115 Activity or concentration of 5-oxoprolinase in the blood circulation below the lower limit of normal. This enzyme catalyzes the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate. Snížená aktivita reakce 5-oxo-L-prolin + ATP + 2 H(2)O = L-glutamát + ADP + 2 H(+) + fosfát CANDIDATE +en tr HP:0040142 IAO:0000115 Activity or concentration of 5-oxoprolinase in the blood circulation below the lower limit of normal. This enzyme catalyzes the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate. 5-okso-L-prolin + ATP + 2 H(2)O = L-glutamat + ADP + 2 H(+) + fosfat reaksiyonunun azalmış aktivitesi CANDIDATE +en nl HP:0040142 rdfs:label Reduced circulating 5-oxoprolinase activity 5-oxoprolinase deficiëntie CANDIDATE +en fr HP:0040142 rdfs:label Reduced circulating 5-oxoprolinase activity Diminution de l'activité 5-oxoprolinase CANDIDATE label of HP:0040142 (Reduced 5-oxoprolinase activity) ; abnormality of metabolism/homeostasis +en cs HP:0040142 rdfs:label Reduced circulating 5-oxoprolinase activity Snížená hladina 5-oxoprolinázy CANDIDATE +en tr HP:0040142 rdfs:label Reduced circulating 5-oxoprolinase activity 5-okzoprolinaz eksikliği CANDIDATE +en zh HP:0040142 rdfs:label Reduced circulating 5-oxoprolinase activity 5-羟脯氨酸酶缺乏症 CANDIDATE +en ja HP:0040142 rdfs:label Reduced circulating 5-oxoprolinase activity 5-オキソプロリナーゼ値の低下 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT +en es HP:0040142 rdfs:label Reduced circulating 5-oxoprolinase activity Deficiencia de 5-oxoprolinasa CANDIDATE en cs HP:0040143 IAO:0000115 Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process. With orthotopic os odontoideum, the ossicle moves with the anterior arch of the atlas, while the dystopic type consists of an ossicle near the basion, or one that is fused with the clivus Os odontoideum se anatomicky klasifikuje do dvou typů (ortotopická a dystopická). Os odeontoideum je difinovaná jako kůstka, která vzniká z hladké a koncové části processus odontoideus. V případě ortotopické os odontoideum se kůstka přesouvá s přední části nosiče (C1, atlas), zatímco v případě dystopického typu zůstává kůstka blízko předního okraje foramen magnum nebo je srostlá s bazi lební anteriorně od foramen magnum. OFFICIAL en tr HP:0040143 IAO:0000115 Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process. With orthotopic os odontoideum, the ossicle moves with the anterior arch of the atlas, while the dystopic type consists of an ossicle near the basion, or one that is fused with the clivus Os odontoideum, iki anatomik tipe (ortotopik ve distopik) ayrılır. Os odontoideum, odontoid sürecinin pürüzsüz ve ayrı caudal kısımlarından oluşan bir kemik parçası olarak tanımlanır. Ortotopik os odontoideum ile ossikül, atlasın ön kemeri ile hareket ederken, distopik tip, basionun yakınında bir ossikülden veya klivusta ile kaynaştırılmış kemikten oluşur CANDIDATE en nl HP:0040143 rdfs:label Dystopic os odontoideum Dystopisch os odontoideum CANDIDATE @@ -118743,7 +118743,7 @@ en tr HP:0040148 rdfs:label Cortical myoclonus Kortikal myoklonus OFFICIAL en zh HP:0040148 rdfs:label Cortical myoclonus 皮质性肌阵挛 OFFICIAL en ja HP:0040148 rdfs:label Cortical myoclonus 皮質ミオクローヌス OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0040148 rdfs:label Cortical myoclonus Mioclonus cortical OFFICIAL -en cs HP:0040149 IAO:0000115 The presence of woolly hair on the scalp. The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. Přítomnost vlnitých vlasů na pokožce hlavy. Termín vlnité vlasy označuje abnormální variantu vlasů, které jsou jemné, s pevně stočenými kadeřemi a často hypopigmentované. Optická mikroskopie může odhalit přítomnost těsných spirál a zřetelné zmenšení průměru ve srovnání s normálními vlasy. Elektronová mikroskopie může ukázat ploché, oválné vlasové stvoly se zmenšeným příčným průměrem. CANDIDATE +en cs HP:0040149 IAO:0000115 The presence of wooly hair on the scalp. The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. Přítomnost vlnitých vlasů na pokožce hlavy. Termín vlnité vlasy označuje abnormální variantu vlasů, které jsou jemné, s pevně stočenými kadeřemi a často hypopigmentované. Optická mikroskopie může odhalit přítomnost těsných spirál a zřetelné zmenšení průměru ve srovnání s normálními vlasy. Elektronová mikroskopie může ukázat ploché, oválné vlasové stvoly se zmenšeným příčným průměrem. CANDIDATE en nl HP:0040149 rdfs:label Woolly scalp hair Wollig hoofdhaar CANDIDATE en fr HP:0040149 rdfs:label Woolly scalp hair Cuir chevelu laineux OFFICIAL label of HP:0040149 (Woolly scalp hair) ; abnormality of the integument en cs HP:0040149 rdfs:label Woolly scalp hair Vlnité vlasy skalpu OFFICIAL @@ -119952,13 +119952,13 @@ en tr HP:0040302 rdfs:label Hyperglycerolemia Hipergliserolemi OFFICIAL en zh HP:0040302 rdfs:label Hyperglycerolemia 高甘油血症 OFFICIAL en ja HP:0040302 rdfs:label Hyperglycerolemia 高グリセロール血症 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0040302 rdfs:label Hyperglycerolemia Hiperglicerolemia OFFICIAL -en nl HP:0040303 rdfs:label Decreased serum iron Verminderd serum ijzer CANDIDATE -en fr HP:0040303 rdfs:label Decreased serum iron Decreased serum iron OFFICIAL label of HP:0040303 (Decreased serum iron) ; abnormality of metabolism/homeostasis -en cs HP:0040303 rdfs:label Decreased serum iron Snížené sérového železa OFFICIAL -en tr HP:0040303 rdfs:label Decreased serum iron Azalmış serum demiri OFFICIAL -en zh HP:0040303 rdfs:label Decreased serum iron 血清铁下降 OFFICIAL -en ja HP:0040303 rdfs:label Decreased serum iron 血清鉄の減少 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT -en es HP:0040303 rdfs:label Decreased serum iron Disminución del hierro sérico OFFICIAL +en nl HP:0040303 rdfs:label Decreased circulating iron concentration Verminderd serum ijzer CANDIDATE +en fr HP:0040303 rdfs:label Decreased circulating iron concentration Decreased serum iron CANDIDATE label of HP:0040303 (Decreased serum iron) ; abnormality of metabolism/homeostasis +en cs HP:0040303 rdfs:label Decreased circulating iron concentration Snížené sérového železa CANDIDATE +en tr HP:0040303 rdfs:label Decreased circulating iron concentration Azalmış serum demiri CANDIDATE +en zh HP:0040303 rdfs:label Decreased circulating iron concentration 血清铁下降 CANDIDATE +en ja HP:0040303 rdfs:label Decreased circulating iron concentration 血清鉄の減少 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT +en es HP:0040303 rdfs:label Decreased circulating iron concentration Disminución del hierro sérico CANDIDATE en nl HP:0040304 rdfs:label Duplication of the sella turcica Duplicatie van de sella turcica CANDIDATE en fr HP:0040304 rdfs:label Duplication of the sella turcica Duplication de la selle turcique OFFICIAL label of HP:0040304 (Duplication of the sella turcica) ; abnormality of head or neck ; abnormality of the skeletal system en cs HP:0040304 rdfs:label Duplication of the sella turcica Zdvojení sella turcica OFFICIAL @@ -121673,8 +121673,8 @@ en tr HP:0100020 rdfs:label Posterior capsular cataract Posterior kapsüler kata en zh HP:0100020 rdfs:label Posterior capsular cataract 后囊型白内障 OFFICIAL en ja HP:0100020 rdfs:label Posterior capsular cataract 後部水晶嚢白内障 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0100020 rdfs:label Posterior capsular cataract Catarata capsular posterior OFFICIAL -en cs HP:0100021 IAO:0000115 Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems. Pojem mozková obrna označuje skupinu trvalých poruch vývoje motoriky a držení těla, které vede k omezení aktivity. Tyto poruchy jsou neprogresivní a jsou důsledkem inzultu poškozujícího vývoj mozku plodu nebo kojence. Motorické poruchy při mozkové obrně jsou často provázeny poruchami smyslů, percepce, kognice, komunikace, chování a epilepsií a sekundárními muskuloskeletálními problémy OFFICIAL -en tr HP:0100021 IAO:0000115 Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems. Beyin felci, gelişmekte olan fetüs veya bebek beyninde meydana gelen ilerlemeyen bozukluklara atfedilen, hareket ve duruşun gelişmesindeki kalıcı bozuklukların bir grubunu, aktivite sınırlamasına neden olarak tanımlar. Beyin felcinin motor bozukluklarına, genellikle duyumsama, algılama, biliş, iletişim ve davranış bozuklukları, epilepsi ve ikincil kas-iskelet problemleri eşlik eder OFFICIAL +en cs HP:0100021 IAO:0000115 Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems. Pojem mozková obrna označuje skupinu trvalých poruch vývoje motoriky a držení těla, které vede k omezení aktivity. Tyto poruchy jsou neprogresivní a jsou důsledkem inzultu poškozujícího vývoj mozku plodu nebo kojence. Motorické poruchy při mozkové obrně jsou často provázeny poruchami smyslů, percepce, kognice, komunikace, chování a epilepsií a sekundárními muskuloskeletálními problémy CANDIDATE +en tr HP:0100021 IAO:0000115 Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems. Beyin felci, gelişmekte olan fetüs veya bebek beyninde meydana gelen ilerlemeyen bozukluklara atfedilen, hareket ve duruşun gelişmesindeki kalıcı bozuklukların bir grubunu, aktivite sınırlamasına neden olarak tanımlar. Beyin felcinin motor bozukluklarına, genellikle duyumsama, algılama, biliş, iletişim ve davranış bozuklukları, epilepsi ve ikincil kas-iskelet problemleri eşlik eder CANDIDATE en nl HP:0100021 rdfs:label Cerebral palsy Cerebrale parese CANDIDATE en fr HP:0100021 rdfs:label Cerebral palsy Infirmité motrice cérébrale OFFICIAL label of HP:0100021 (Cerebral palsy) ; abnormality of the nervous system en cs HP:0100021 rdfs:label Cerebral palsy Mozková obrna OFFICIAL @@ -123293,8 +123293,8 @@ en tr HP:0100240 rdfs:label Synostosis of joints Eklemlerin sinostozisi OFFICIAL en zh HP:0100240 rdfs:label Synostosis of joints 关节骨性联接 OFFICIAL en ja HP:0100240 rdfs:label Synostosis of joints 関節骨癒合症 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0100240 rdfs:label Synostosis of joints Sinostosis de las articulaciones OFFICIAL -en cs HP:0100241 IAO:0000115 Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations. Ektopický respirační epitel, který se projevuje jako povrchová kožní léze obvykle jednostranně lokalizovaná v kůži předloktí a spojená s ipsilaterálními malformacemi ruky OFFICIAL -en tr HP:0100241 IAO:0000115 Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations. Ciltte yüzeysel bir lezyon olarak görülen ektopik solunum yolu epiteli, genellikle önkol derisinde tek taraflı lokalizasyonu gösterir ve aynı taraftaki el kusurları ile ilişkilidir OFFICIAL +en cs HP:0100241 IAO:0000115 Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localized unilateral in the skin of the forearm and associated with ipsilateral hand malformations. Ektopický respirační epitel, který se projevuje jako povrchová kožní léze obvykle jednostranně lokalizovaná v kůži předloktí a spojená s ipsilaterálními malformacemi ruky CANDIDATE +en tr HP:0100241 IAO:0000115 Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localized unilateral in the skin of the forearm and associated with ipsilateral hand malformations. Ciltte yüzeysel bir lezyon olarak görülen ektopik solunum yolu epiteli, genellikle önkol derisinde tek taraflı lokalizasyonu gösterir ve aynı taraftaki el kusurları ile ilişkilidir CANDIDATE en nl HP:0100241 rdfs:label Ectopic respiratory mucosa Ectopische respiratoire mucosa CANDIDATE en fr HP:0100241 rdfs:label Ectopic respiratory mucosa Muqueuse respiratoire ectopique OFFICIAL label of HP:0100241 (Ectopic respiratory mucosa) ; abnormality of limbs ; abnormality of the respiratory system en cs HP:0100241 rdfs:label Ectopic respiratory mucosa Ektopická sliznice dýchacích cest OFFICIAL @@ -123576,8 +123576,8 @@ en tr HP:0100273 rdfs:label Neoplasm of the colon Kolon neoplazmı OFFICIAL en zh HP:0100273 rdfs:label Neoplasm of the colon 结肠新生物 OFFICIAL en ja HP:0100273 rdfs:label Neoplasm of the colon 結腸新生物 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0100273 rdfs:label Neoplasm of the colon Neoplasia de colon OFFICIAL -en cs HP:0100274 IAO:0000115 Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal. Gustatorní lakrimace vzniká kvůli aberantní inervaci vláken sedmého hlavového nervu do pterygopalatinního ganglion místo submandibulárního ganglion. Toto vede k nekontrolovanému slzení při jídle nebo při očekávání jídla. OFFICIAL -en tr HP:0100274 IAO:0000115 Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal. Tat duyusu ile göz yaşı salgılanması normalde submandibüler gangliyon için gönderilen yedinci kafa sinir liflerinin pterigopalantin gangliyona gittiği atipik uyarılmadan kaynaklanmaktadır. Bu atipik uyarım yerken veya yemek beklerken kontrolsüz göz yaşarmasına yol açmaktadır OFFICIAL +en cs HP:0100274 IAO:0000115 Gustatory lacrimation results from an aberrant innervation of fibers from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal. Gustatorní lakrimace vzniká kvůli aberantní inervaci vláken sedmého hlavového nervu do pterygopalatinního ganglion místo submandibulárního ganglion. Toto vede k nekontrolovanému slzení při jídle nebo při očekávání jídla. CANDIDATE +en tr HP:0100274 IAO:0000115 Gustatory lacrimation results from an aberrant innervation of fibers from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal. Tat duyusu ile göz yaşı salgılanması normalde submandibüler gangliyon için gönderilen yedinci kafa sinir liflerinin pterigopalantin gangliyona gittiği atipik uyarılmadan kaynaklanmaktadır. Bu atipik uyarım yerken veya yemek beklerken kontrolsüz göz yaşarmasına yol açmaktadır CANDIDATE en nl HP:0100274 rdfs:label Gustatory lacrimation Traanproductie bij smaak CANDIDATE en fr HP:0100274 rdfs:label Gustatory lacrimation Lacrimation liée à la gustativité OFFICIAL label of HP:0100274 (Gustatory lacrimation) ; abnormality of the nervous system ; abnormality of the eye en cs HP:0100274 rdfs:label Gustatory lacrimation Gustatorický pláč OFFICIAL @@ -123977,8 +123977,8 @@ en tr HP:0100324 rdfs:label Scleroderma Skleroderma OFFICIAL en zh HP:0100324 rdfs:label Scleroderma 硬皮病 OFFICIAL en ja HP:0100324 rdfs:label Scleroderma 強皮症 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0100324 rdfs:label Scleroderma Esclerodermia OFFICIAL -en cs HP:0100326 IAO:0000115 Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens. Imunologické stavy, kdy imunitní systém reaguje škodlivými reakcemi v případě opakované expozici senzibilizujícími antigeny OFFICIAL -en tr HP:0100326 IAO:0000115 Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens. Duyarlılık oluşturan antijenlere yeniden maruziyeti takiben bağışıklık sisteminin zararlı yanıtlar ürettiği immünolojik durumlar OFFICIAL +en cs HP:0100326 IAO:0000115 Immunological states where the immune system produces harmful responses upon reexposure to sensitizing antigens. Imunologické stavy, kdy imunitní systém reaguje škodlivými reakcemi v případě opakované expozici senzibilizujícími antigeny CANDIDATE +en tr HP:0100326 IAO:0000115 Immunological states where the immune system produces harmful responses upon reexposure to sensitizing antigens. Duyarlılık oluşturan antijenlere yeniden maruziyeti takiben bağışıklık sisteminin zararlı yanıtlar ürettiği immünolojik durumlar CANDIDATE en nl HP:0100326 rdfs:label Immunologic hypersensitivity Immunologische overgevoeligheid CANDIDATE en fr HP:0100326 rdfs:label Immunologic hypersensitivity Hypersensibilité immunologique OFFICIAL label of HP:0100326 (Immunologic hypersensitivity) ; abnormality of the immune system en cs HP:0100326 rdfs:label Immunologic hypersensitivity Imunologická přecitlivělost OFFICIAL @@ -126839,8 +126839,8 @@ en tr HP:0100684 rdfs:label Salivary gland neoplasm Tükrük bezi neoplazisi OFF en zh HP:0100684 rdfs:label Salivary gland neoplasm 唾液腺肿瘤 OFFICIAL en ja HP:0100684 rdfs:label Salivary gland neoplasm 唾液腺新生物 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0100684 rdfs:label Salivary gland neoplasm Neoplasia de la glándula salival OFFICIAL -en cs HP:0100685 IAO:0000115 An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone. Anomálie Sharpeyových vláken (kostních vláken nebo perforujících vláken), což je matrix pojivové tkáně tvořená svazky silných kolagenních vláken spojujících periost s kostí. OFFICIAL -en tr HP:0100685 IAO:0000115 An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone. Periosteumu kemiğe bağlayan güçlü kolajen lif demetlerinden oluşan bağ dokusunun bir matrisi olan Sharpey liflerinin (kemik lifleri veya delici lifler) bir anormalliği OFFICIAL +en cs HP:0100685 IAO:0000115 An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibers connecting periosteum to bone. Anomálie Sharpeyových vláken (kostních vláken nebo perforujících vláken), což je matrix pojivové tkáně tvořená svazky silných kolagenních vláken spojujících periost s kostí. CANDIDATE +en tr HP:0100685 IAO:0000115 An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibers connecting periosteum to bone. Periosteumu kemiğe bağlayan güçlü kolajen lif demetlerinden oluşan bağ dokusunun bir matrisi olan Sharpey liflerinin (kemik lifleri veya delici lifler) bir anormalliği CANDIDATE en nl HP:0100685 rdfs:label Abnormal Sharpey fiber morphology Afwijking van de sharpeyvezels CANDIDATE en fr HP:0100685 rdfs:label Abnormal Sharpey fiber morphology Anomalie morphologique des fibres de Sharpey OFFICIAL label of HP:0100685 (Abnormal Sharpey fiber morphology) ; abnormality of connective tissue en cs HP:0100685 rdfs:label Abnormal Sharpey fiber morphology Abnormální morfologie Sharpeyových vláken OFFICIAL @@ -127953,8 +127953,8 @@ en tr HP:0100831 rdfs:label Abnormality of vitamin K metabolism K vitamini metab en zh HP:0100831 rdfs:label Abnormality of vitamin K metabolism 维生素K代谢异常 OFFICIAL en ja HP:0100831 rdfs:label Abnormality of vitamin K metabolism ビタミンK代謝の異常 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0100831 rdfs:label Abnormality of vitamin K metabolism Anomalía del metabolismo de la vitamina k OFFICIAL -en cs HP:0100832 IAO:0000115 Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent. Depozitá různé velikosti, tvaru, konzistence, refrakčního indexu a pohyblivosti v rámci očního sklivce, který je za normálních okolností průhledný. OFFICIAL -en tr HP:0100832 IAO:0000115 Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent. Normalde şeffaf olan gözün vitröz mizahındaki çeşitli boyut, şekil, tutarlılık, kırılma indeksi ve hareketliliğin biriktirilmesi CANDIDATE +en cs HP:0100832 IAO:0000115 Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humor, which is normally transparent. Depozitá různé velikosti, tvaru, konzistence, refrakčního indexu a pohyblivosti v rámci očního sklivce, který je za normálních okolností průhledný. CANDIDATE +en tr HP:0100832 IAO:0000115 Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humor, which is normally transparent. Normalde şeffaf olan gözün vitröz mizahındaki çeşitli boyut, şekil, tutarlılık, kırılma indeksi ve hareketliliğin biriktirilmesi CANDIDATE en nl HP:0100832 rdfs:label Vitreous floaters Glasvocht floaters CANDIDATE en fr HP:0100832 rdfs:label Vitreous floaters Mouches volantes OFFICIAL label of HP:0100832 (Vitreous floaters) ; abnormality of the eye en cs HP:0100832 rdfs:label Vitreous floaters Sklivcové zákaly OFFICIAL @@ -128979,13 +128979,13 @@ en tr HP:0100961 rdfs:label Enlarged hippocampus Genişlemiş hipokampüs OFFICI en zh HP:0100961 rdfs:label Enlarged hippocampus 海马区体积扩大 OFFICIAL en ja HP:0100961 rdfs:label Enlarged hippocampus 海馬拡大 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT en es HP:0100961 rdfs:label Enlarged hippocampus Aumento en el tamaño del hipocampo OFFICIAL -en nl HP:0100962 rdfs:label Shyness Verlegenheid CANDIDATE -en fr HP:0100962 rdfs:label Shyness Timidité OFFICIAL label of HP:0100962 (Shyness) ; abnormality of the nervous system -en cs HP:0100962 rdfs:label Shyness Plachost OFFICIAL -en tr HP:0100962 rdfs:label Shyness Utangaçlık OFFICIAL -en zh HP:0100962 rdfs:label Shyness 害羞 OFFICIAL -en ja HP:0100962 rdfs:label Shyness はずかしがり OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT -en es HP:0100962 rdfs:label Shyness Timidez OFFICIAL +en nl HP:0100962 rdfs:label Excessive shyness Verlegenheid CANDIDATE +en fr HP:0100962 rdfs:label Excessive shyness Timidité CANDIDATE label of HP:0100962 (Shyness) ; abnormality of the nervous system +en cs HP:0100962 rdfs:label Excessive shyness Plachost CANDIDATE +en tr HP:0100962 rdfs:label Excessive shyness Utangaçlık CANDIDATE +en zh HP:0100962 rdfs:label Excessive shyness 害羞 CANDIDATE +en ja HP:0100962 rdfs:label Excessive shyness はずかしがり CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 1.0 EXACT +en es HP:0100962 rdfs:label Excessive shyness Timidez CANDIDATE en cs HP:0100963 IAO:0000115 Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain. Zvýšená citlivost na stimulaci, s výjimkou speciálních smyslů (hlavních smyslů)m To může odkazovat na různé způsoby kožní citlivosti včetně dotyku a tepelného vjemu bez bolesti a vněm bolesti jako takové. CANDIDATE en nl HP:0100963 rdfs:label Hyperesthesia Hyperesthesie CANDIDATE en fr HP:0100963 rdfs:label Hyperesthesia Hyperestheésie OFFICIAL label of HP:0100963 (Hyperesthesia) ; abnormality of the nervous system @@ -130783,62 +130783,62 @@ en tr HP:0410191 rdfs:label Increased glucose-6-phosphate dehydrogenase level in en zh HP:0410191 rdfs:label Increased glucose-6-phosphate dehydrogenase level in leukocytes 白细胞6-磷酸葡萄糖脱氢酶升高 OFFICIAL en ja HP:0410191 rdfs:label Increased glucose-6-phosphate dehydrogenase level in leukocytes 白血球中のグルコース-6-リン酸デヒドロゲナーゼ値の増加 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0410191 rdfs:label Increased glucose-6-phosphate dehydrogenase level in leukocytes Aumento del nivel de glucosa-6-fosfato deshidrogenasa en los leucocitos OFFICIAL -en cs HP:0410192 IAO:0000115 An abnormality in uridine diphosphate glucose-4-epimerase level, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose. Abnormalita aktivity uridindifosfátglukóza-4-epimerázy, enzymu katalyzující reakci: UDP-glukóza = UDP-galaktóza CANDIDATE -en tr HP:0410192 IAO:0000115 An abnormality in uridine diphosphate glucose-4-epimerase level, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose. UDP-glukoz = UDP-galaktoz reaksiyonunu katalizleyen bir enzim olan üridin difosfat glukoz-4-epimeraz aktivitesinde bir anormallik CANDIDATE -en fr HP:0410192 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level Activité anormale de l'uridine diphosphate glucose-4-épimérase CANDIDATE label of HP:0410192 (Abnormal uridine diphosphate glucose-4-epimerase activity) ; abnormality of metabolism/homeostasis -en cs HP:0410192 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level Abnormální aktivita uridin difosfát glukóza-4-epimerázy CANDIDATE -en tr HP:0410192 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level Anormal üridin difosfat glukoz-4-epimeraz aktivitesi CANDIDATE -en zh HP:0410192 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level 尿苷二磷酸葡萄糖4位异构酶异常 OFFICIAL -en ja HP:0410192 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level ウリジン二リン酸グルコース-4-エピメラーゼ値の異常 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT -en es HP:0410192 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level Actividad anormal de uridina difosfato glucosa-4-epimerasa CANDIDATE +en cs HP:0410192 IAO:0000115 An abnormality in uridine diphosphate glucose-4-epimerase level, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose Abnormalita aktivity uridindifosfátglukóza-4-epimerázy, enzymu katalyzující reakci: UDP-glukóza = UDP-galaktóza CANDIDATE +en tr HP:0410192 IAO:0000115 An abnormality in uridine diphosphate glucose-4-epimerase level, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose UDP-glukoz = UDP-galaktoz reaksiyonunu katalizleyen bir enzim olan üridin difosfat glukoz-4-epimeraz aktivitesinde bir anormallik CANDIDATE +en fr HP:0410192 rdfs:label obsolete Abnormal uridine diphosphate glucose-4-epimerase level Activité anormale de l'uridine diphosphate glucose-4-épimérase CANDIDATE label of HP:0410192 (Abnormal uridine diphosphate glucose-4-epimerase activity) ; abnormality of metabolism/homeostasis +en cs HP:0410192 rdfs:label obsolete Abnormal uridine diphosphate glucose-4-epimerase level Abnormální aktivita uridin difosfát glukóza-4-epimerázy CANDIDATE +en tr HP:0410192 rdfs:label obsolete Abnormal uridine diphosphate glucose-4-epimerase level Anormal üridin difosfat glukoz-4-epimeraz aktivitesi CANDIDATE +en zh HP:0410192 rdfs:label obsolete Abnormal uridine diphosphate glucose-4-epimerase level 尿苷二磷酸葡萄糖4位异构酶异常 CANDIDATE +en ja HP:0410192 rdfs:label obsolete Abnormal uridine diphosphate glucose-4-epimerase level ウリジン二リン酸グルコース-4-エピメラーゼ値の異常 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT +en es HP:0410192 rdfs:label obsolete Abnormal uridine diphosphate glucose-4-epimerase level Actividad anormal de uridina difosfato glucosa-4-epimerasa CANDIDATE en cs HP:0410193 IAO:0000115 An abnormality in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. Abnormalita aktivity uridindifosfát-glukóza-4-epimerázy v plazmě. Uridin difosfát glukóza-4-epimeráza katalyzuje reakci: UDP-glukóza = UDP-galaktóza CANDIDATE en tr HP:0410193 IAO:0000115 An abnormality in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. Plazmada üridin difosfat glukoz-4-epimeraz aktivitesinde bir anormallik. Üridin difosfat glukoz-4-epimeraz UDP-glukoz = UDP-galaktoz reaksiyonunu katalizler CANDIDATE -en fr HP:0410193 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level in plasma Activité anormale de l'uridine diphosphate glucose-4-épimérase dans le plasma CANDIDATE label of HP:0410193 (Abnormal uridine diphosphate glucose-4-epimerase activity in plasma) ; abnormality of metabolism/homeostasis -en cs HP:0410193 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level in plasma Abnormální aktivita uridin difosfát glukóza-4-epimerázy v plazmě CANDIDATE -en tr HP:0410193 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level in plasma Plazmada anormal üridin difosfat glukoz-4-epimeraz aktivitesi CANDIDATE -en zh HP:0410193 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level in plasma 血浆尿苷二磷酸葡萄糖4位异构酶异常 OFFICIAL -en ja HP:0410193 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level in plasma 血漿中ウリジン二リン酸グルコース-4-エピメラーゼ値異常 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT -en es HP:0410193 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level in plasma Actividad anormal de uridina difosfato glucosa-4-epimerasa en plasma CANDIDATE +en fr HP:0410193 rdfs:label Abnormal circulating UDP glucose-4-epimerase concentration Activité anormale de l'uridine diphosphate glucose-4-épimérase dans le plasma CANDIDATE label of HP:0410193 (Abnormal uridine diphosphate glucose-4-epimerase activity in plasma) ; abnormality of metabolism/homeostasis +en cs HP:0410193 rdfs:label Abnormal circulating UDP glucose-4-epimerase concentration Abnormální aktivita uridin difosfát glukóza-4-epimerázy v plazmě CANDIDATE +en tr HP:0410193 rdfs:label Abnormal circulating UDP glucose-4-epimerase concentration Plazmada anormal üridin difosfat glukoz-4-epimeraz aktivitesi CANDIDATE +en zh HP:0410193 rdfs:label Abnormal circulating UDP glucose-4-epimerase concentration 血浆尿苷二磷酸葡萄糖4位异构酶异常 CANDIDATE +en ja HP:0410193 rdfs:label Abnormal circulating UDP glucose-4-epimerase concentration 血漿中ウリジン二リン酸グルコース-4-エピメラーゼ値異常 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT +en es HP:0410193 rdfs:label Abnormal circulating UDP glucose-4-epimerase concentration Actividad anormal de uridina difosfato glucosa-4-epimerasa en plasma CANDIDATE en cs HP:0410194 IAO:0000115 An increase in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. Zvýšení aktivity uridindifosfátglukóza-4-epimerázy v plazmě. Uridin difosfát glukóza-4-epimeráza katalyzuje reakci: UDP-glukóza = UDP-galaktóza CANDIDATE en tr HP:0410194 IAO:0000115 An increase in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. Plazmada üridin difosfat glukoz-4-epimeraz aktivitesinde bir artış. Üridin difosfat glukoz-4-epimeraz UDP-glukoz = UDP-galaktoz reaksiyonunu katalizler CANDIDATE -en fr HP:0410194 rdfs:label Increased uridine diphosphate glucose-4-epimerase level in plasma Augmentation de l'activité uridine diphosphate glucose-4-épimérase dans le plasma CANDIDATE label of HP:0410194 (Increased uridine diphosphate glucose-4-epimerase activity in plasma) ; abnormality of metabolism/homeostasis -en cs HP:0410194 rdfs:label Increased uridine diphosphate glucose-4-epimerase level in plasma Zvýšená aktivita uridindifosfátglukóza-4-epimerázy v plazmě CANDIDATE -en tr HP:0410194 rdfs:label Increased uridine diphosphate glucose-4-epimerase level in plasma Plazmada artmış üridin difosfat glukoz-4-epimeraz aktivitesi CANDIDATE -en zh HP:0410194 rdfs:label Increased uridine diphosphate glucose-4-epimerase level in plasma 血浆尿苷二磷酸葡萄糖4位异构酶升高 OFFICIAL -en ja HP:0410194 rdfs:label Increased uridine diphosphate glucose-4-epimerase level in plasma 血漿中ウリジン二リン酸グルコース-4-エピメラーゼ値の上昇 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT -en es HP:0410194 rdfs:label Increased uridine diphosphate glucose-4-epimerase level in plasma Aumento de la actividad uridina difosfato glucosa-4-epimerasa en plasma CANDIDATE +en fr HP:0410194 rdfs:label Increased circulating UDP glucose-4-epimerase concentration Augmentation de l'activité uridine diphosphate glucose-4-épimérase dans le plasma CANDIDATE label of HP:0410194 (Increased uridine diphosphate glucose-4-epimerase activity in plasma) ; abnormality of metabolism/homeostasis +en cs HP:0410194 rdfs:label Increased circulating UDP glucose-4-epimerase concentration Zvýšená aktivita uridindifosfátglukóza-4-epimerázy v plazmě CANDIDATE +en tr HP:0410194 rdfs:label Increased circulating UDP glucose-4-epimerase concentration Plazmada artmış üridin difosfat glukoz-4-epimeraz aktivitesi CANDIDATE +en zh HP:0410194 rdfs:label Increased circulating UDP glucose-4-epimerase concentration 血浆尿苷二磷酸葡萄糖4位异构酶升高 CANDIDATE +en ja HP:0410194 rdfs:label Increased circulating UDP glucose-4-epimerase concentration 血漿中ウリジン二リン酸グルコース-4-エピメラーゼ値の上昇 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT +en es HP:0410194 rdfs:label Increased circulating UDP glucose-4-epimerase concentration Aumento de la actividad uridina difosfato glucosa-4-epimerasa en plasma CANDIDATE en cs HP:0410195 IAO:0000115 A decrease in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. Snížení aktivity uridindifosfátglukóza-4-epimerázy v plazmě. Uridin difosfát glukóza-4-epimeráza katalyzuje reakci: UDP-glukóza = UDP-galaktóza CANDIDATE en tr HP:0410195 IAO:0000115 A decrease in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. Plazmada üridin difosfat glukoz-4-epimeraz aktivitesinde bir düşüş. Üridin difosfat glukoz-4-epimeraz UDP-glukoz = UDP-galaktoz reaksiyonunu katalizler CANDIDATE -en fr HP:0410195 rdfs:label Decreased uridine diphosphate glucose-4-epimerase level in plasma Diminution de l'activité uridine diphosphate glucose-4-épimérase dans le plasma CANDIDATE label of HP:0410195 (Decreased uridine diphosphate glucose-4-epimerase activity in plasma) ; abnormality of metabolism/homeostasis -en cs HP:0410195 rdfs:label Decreased uridine diphosphate glucose-4-epimerase level in plasma Snížená aktivita uridindifosfátglukóza-4-epimerázy v plazmě CANDIDATE -en tr HP:0410195 rdfs:label Decreased uridine diphosphate glucose-4-epimerase level in plasma Plazmada azalmış üridin difosfat glukoz-4-epimeraz aktivitesi CANDIDATE -en zh HP:0410195 rdfs:label Decreased uridine diphosphate glucose-4-epimerase level in plasma 血浆尿苷二磷酸葡萄糖4位异构酶降低 OFFICIAL -en ja HP:0410195 rdfs:label Decreased uridine diphosphate glucose-4-epimerase level in plasma 血漿中ウリジン二リン酸グルコース-4-エピメラーゼ値の低下 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT -en es HP:0410195 rdfs:label Decreased uridine diphosphate glucose-4-epimerase level in plasma Disminución de la actividad uridina difosfato glucosa-4-epimerasa en plasma CANDIDATE +en fr HP:0410195 rdfs:label Decreased circulating UDP glucose-4-epimerase concentration Diminution de l'activité uridine diphosphate glucose-4-épimérase dans le plasma CANDIDATE label of HP:0410195 (Decreased uridine diphosphate glucose-4-epimerase activity in plasma) ; abnormality of metabolism/homeostasis +en cs HP:0410195 rdfs:label Decreased circulating UDP glucose-4-epimerase concentration Snížená aktivita uridindifosfátglukóza-4-epimerázy v plazmě CANDIDATE +en tr HP:0410195 rdfs:label Decreased circulating UDP glucose-4-epimerase concentration Plazmada azalmış üridin difosfat glukoz-4-epimeraz aktivitesi CANDIDATE +en zh HP:0410195 rdfs:label Decreased circulating UDP glucose-4-epimerase concentration 血浆尿苷二磷酸葡萄糖4位异构酶降低 CANDIDATE +en ja HP:0410195 rdfs:label Decreased circulating UDP glucose-4-epimerase concentration 血漿中ウリジン二リン酸グルコース-4-エピメラーゼ値の低下 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT +en es HP:0410195 rdfs:label Decreased circulating UDP glucose-4-epimerase concentration Disminución de la actividad uridina difosfato glucosa-4-epimerasa en plasma CANDIDATE en cs HP:0410196 IAO:0000115 An abnormality in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. Abnormalita v aktivitě uridindifosfátglukóza-4-epimerázy v červených krvinkách. Uridin difosfát glukóza-4-epimeráza katalyzuje reakci: UDP-glukóza = UDP-galaktóza CANDIDATE en tr HP:0410196 IAO:0000115 An abnormality in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. Kırmızı kan hücrelerinde üridin difosfat glukoz-4-epimeraz aktivitesinde bir anormallik. Üridin difosfat glukoz-4-epimeraz UDP-glukoz = UDP-galaktoz reaksiyonunu katalizler CANDIDATE -en fr HP:0410196 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells Activité anormale de l'uridine diphosphate glucose-4-épimérase dans les globules rouges. CANDIDATE label of HP:0410196 (Abnormal uridine diphosphate glucose-4-epimerase activity in red blood cells) ; abnormality of metabolism/homeostasis -en cs HP:0410196 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells Abnormální aktivita uridin difosfát glukóza-4-epimerázy v červených krvinkách CANDIDATE -en tr HP:0410196 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells Kırmızı kan hücrelerinde anormal üridin difosfat glukoz-4-epimeraz aktivitesi CANDIDATE -en zh HP:0410196 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells 红细胞尿苷二磷酸葡萄糖4位异构酶异常 OFFICIAL -en ja HP:0410196 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells 赤血球中のウリジン二リン酸グルコース-4-エピメラーゼ値の異常 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT -en es HP:0410196 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells Actividad anormal de uridina difosfato glucosa-4-epimerasa en glóbulos rojos CANDIDATE +en fr HP:0410196 rdfs:label Abnormal erythrocyte UDP glucose-4-epimerase concentration Activité anormale de l'uridine diphosphate glucose-4-épimérase dans les globules rouges. CANDIDATE label of HP:0410196 (Abnormal uridine diphosphate glucose-4-epimerase activity in red blood cells) ; abnormality of metabolism/homeostasis +en cs HP:0410196 rdfs:label Abnormal erythrocyte UDP glucose-4-epimerase concentration Abnormální aktivita uridin difosfát glukóza-4-epimerázy v červených krvinkách CANDIDATE +en tr HP:0410196 rdfs:label Abnormal erythrocyte UDP glucose-4-epimerase concentration Kırmızı kan hücrelerinde anormal üridin difosfat glukoz-4-epimeraz aktivitesi CANDIDATE +en zh HP:0410196 rdfs:label Abnormal erythrocyte UDP glucose-4-epimerase concentration 红细胞尿苷二磷酸葡萄糖4位异构酶异常 CANDIDATE +en ja HP:0410196 rdfs:label Abnormal erythrocyte UDP glucose-4-epimerase concentration 赤血球中のウリジン二リン酸グルコース-4-エピメラーゼ値の異常 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT +en es HP:0410196 rdfs:label Abnormal erythrocyte UDP glucose-4-epimerase concentration Actividad anormal de uridina difosfato glucosa-4-epimerasa en glóbulos rojos CANDIDATE en cs HP:0410197 IAO:0000115 An increase in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. Zvýšení aktivity uridindifosfátglukóza-4-epimerázy v červených krvinkách. Uridin difosfát glukóza-4-epimeráza katalyzuje reakci: UDP-glukóza = UDP-galaktóza CANDIDATE en tr HP:0410197 IAO:0000115 An increase in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. Kırmızı kan hücrelerinde üridin difosfat glukoz-4-epimeraz aktivitesinde bir artış. Üridin difosfat glukoz-4-epimeraz UDP-glukoz = UDP-galaktoz reaksiyonunu katalizler CANDIDATE -en fr HP:0410197 rdfs:label Increased uridine diphosphate glucose-4-epimerase level in red blood cells Augmentation de l'activité de l'uridine diphosphate glucose-4-épimérase dans les globules rouges. CANDIDATE label of HP:0410197 (Increased uridine diphosphate glucose-4-epimerase activity in red blood cells) ; abnormality of metabolism/homeostasis -en cs HP:0410197 rdfs:label Increased uridine diphosphate glucose-4-epimerase level in red blood cells Zvýšená aktivita uridindifosfátglukóza-4-epimerázy v červených krvinkách CANDIDATE -en tr HP:0410197 rdfs:label Increased uridine diphosphate glucose-4-epimerase level in red blood cells Kırmızı kan hücrelerinde artmış üridin difosfat glukoz-4-epimeraz aktivitesi CANDIDATE -en zh HP:0410197 rdfs:label Increased uridine diphosphate glucose-4-epimerase level in red blood cells 红细胞尿苷二磷酸葡萄糖4位异构酶升高 OFFICIAL -en ja HP:0410197 rdfs:label Increased uridine diphosphate glucose-4-epimerase level in red blood cells 赤血球中のウリジン二リン酸グルコース-4-エピメラーゼ値の上昇 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT -en es HP:0410197 rdfs:label Increased uridine diphosphate glucose-4-epimerase level in red blood cells Aumento de la actividad uridina difosfato glucosa-4-epimerasa en los glóbulos rojos CANDIDATE +en fr HP:0410197 rdfs:label Increased erythrocyte UDP glucose-4-epimerase concentration Augmentation de l'activité de l'uridine diphosphate glucose-4-épimérase dans les globules rouges. CANDIDATE label of HP:0410197 (Increased uridine diphosphate glucose-4-epimerase activity in red blood cells) ; abnormality of metabolism/homeostasis +en cs HP:0410197 rdfs:label Increased erythrocyte UDP glucose-4-epimerase concentration Zvýšená aktivita uridindifosfátglukóza-4-epimerázy v červených krvinkách CANDIDATE +en tr HP:0410197 rdfs:label Increased erythrocyte UDP glucose-4-epimerase concentration Kırmızı kan hücrelerinde artmış üridin difosfat glukoz-4-epimeraz aktivitesi CANDIDATE +en zh HP:0410197 rdfs:label Increased erythrocyte UDP glucose-4-epimerase concentration 红细胞尿苷二磷酸葡萄糖4位异构酶升高 CANDIDATE +en ja HP:0410197 rdfs:label Increased erythrocyte UDP glucose-4-epimerase concentration 赤血球中のウリジン二リン酸グルコース-4-エピメラーゼ値の上昇 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT +en es HP:0410197 rdfs:label Increased erythrocyte UDP glucose-4-epimerase concentration Aumento de la actividad uridina difosfato glucosa-4-epimerasa en los glóbulos rojos CANDIDATE en cs HP:0410198 IAO:0000115 A decrease in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. Snížení aktivity uridindifosfátglukóza-4-epimerázy v červených krvinkách. Uridin difosfát glukóza-4-epimeráza katalyzuje reakci: UDP-glukóza = UDP-galaktóza CANDIDATE en tr HP:0410198 IAO:0000115 A decrease in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. Kırmızı kan hücrelerinde üridin difosfat glukoz-4-epimeraz aktivitesinde bir azalma. Üridin difosfat glukoz-4-epimeraz UDP-glukoz = UDP-galaktoz reaksiyonunu katalizler CANDIDATE -en fr HP:0410198 rdfs:label Decreased uridine diphosphate glucose-4-epimerase level in red blood cells Diminution de l'activité uridine diphosphate glucose-4-épimérase dans les globules rouges. CANDIDATE label of HP:0410198 (Decreased uridine diphosphate glucose-4-epimerase activity in red blood cells) ; abnormality of metabolism/homeostasis -en cs HP:0410198 rdfs:label Decreased uridine diphosphate glucose-4-epimerase level in red blood cells Snížená aktivita uridindifosfátglukóza-4-epimerázy v červených krvinkách CANDIDATE -en tr HP:0410198 rdfs:label Decreased uridine diphosphate glucose-4-epimerase level in red blood cells Kırmızı kan hücrelerinde azalmış üridin difosfat glukoz-4-epimeraz aktivitesi CANDIDATE -en zh HP:0410198 rdfs:label Decreased uridine diphosphate glucose-4-epimerase level in red blood cells 红细胞尿苷二磷酸葡萄糖4位异构酶降低 OFFICIAL -en ja HP:0410198 rdfs:label Decreased uridine diphosphate glucose-4-epimerase level in red blood cells 赤血球中のウリジン二リン酸グルコース-4-エピメラーゼ値の減少 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT -en es HP:0410198 rdfs:label Decreased uridine diphosphate glucose-4-epimerase level in red blood cells Disminución de la actividad de la uridina difosfato glucosa-4-epimerasa en los glóbulos rojos CANDIDATE +en fr HP:0410198 rdfs:label Decreased erythrocyte UDP glucose-4-epimerase concentration Diminution de l'activité uridine diphosphate glucose-4-épimérase dans les globules rouges. CANDIDATE label of HP:0410198 (Decreased uridine diphosphate glucose-4-epimerase activity in red blood cells) ; abnormality of metabolism/homeostasis +en cs HP:0410198 rdfs:label Decreased erythrocyte UDP glucose-4-epimerase concentration Snížená aktivita uridindifosfátglukóza-4-epimerázy v červených krvinkách CANDIDATE +en tr HP:0410198 rdfs:label Decreased erythrocyte UDP glucose-4-epimerase concentration Kırmızı kan hücrelerinde azalmış üridin difosfat glukoz-4-epimeraz aktivitesi CANDIDATE +en zh HP:0410198 rdfs:label Decreased erythrocyte UDP glucose-4-epimerase concentration 红细胞尿苷二磷酸葡萄糖4位异构酶降低 CANDIDATE +en ja HP:0410198 rdfs:label Decreased erythrocyte UDP glucose-4-epimerase concentration 赤血球中のウリジン二リン酸グルコース-4-エピメラーゼ値の減少 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT +en es HP:0410198 rdfs:label Decreased erythrocyte UDP glucose-4-epimerase concentration Disminución de la actividad de la uridina difosfato glucosa-4-epimerasa en los glóbulos rojos CANDIDATE en cs HP:0410199 IAO:0000115 Increased concentration of urate in the cerebrospinal fluid. Zvýšená koncentrace urátu v likvoru OFFICIAL en tr HP:0410199 IAO:0000115 Increased concentration of urate in the cerebrospinal fluid. Beyin omurilik sıvısında artmış ürat konsantrasyonu OFFICIAL en fr HP:0410199 rdfs:label Increased CSF urate concentration Augmentation de la concentration d'urate dans le LCR OFFICIAL label of HP:0410199 (Increased CSF urate concentration) ; abnormality of the nervous system @@ -132898,8 +132898,8 @@ en tr HP:0500069 rdfs:label Paralytic ectropion Paralitik ektropiyon OFFICIAL en zh HP:0500069 rdfs:label Paralytic ectropion 麻痹性睑外翻 OFFICIAL en ja HP:0500069 rdfs:label Paralytic ectropion 麻痺性眼瞼外反症 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0500069 rdfs:label Paralytic ectropion Ectropión paralítico OFFICIAL -en cs HP:0500070 IAO:0000115 A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus. Léze konjunktivy tvořená tukovou tkání a hustou pojivovou tkání. Tento typ choristomu složeného z kožních elementů se normálně vyskytuje při vnějším kantu a má gelatinózní vzhled. Klasicky mívá nejasnou zadní hranici (léze často expanduje do orbity) a jasně ohraničenou přední část, několik milimetrů za limbem. OFFICIAL -en tr HP:0500070 IAO:0000115 A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus. Yağ dokusu ve yoğun bağ dokusundan oluşan konjonktival bir lezyon. Dermal bileşenlerin bu koristomaları normal olarak dış kantusta bulunur ve jelatinimsi bir görünüme sahiptir. Klasik olarak belirsiz posterior sınır (sıkça göz çukuru içine uzanan lezyon ile) ve limbus posterioruna bir kaç milimetre mesafede iyi sınırlı anterior sınır vardır OFFICIAL +en cs HP:0500070 IAO:0000115 A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimeters posterior to the limbus. Léze konjunktivy tvořená tukovou tkání a hustou pojivovou tkání. Tento typ choristomu složeného z kožních elementů se normálně vyskytuje při vnějším kantu a má gelatinózní vzhled. Klasicky mívá nejasnou zadní hranici (léze často expanduje do orbity) a jasně ohraničenou přední část, několik milimetrů za limbem. CANDIDATE +en tr HP:0500070 IAO:0000115 A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimeters posterior to the limbus. Yağ dokusu ve yoğun bağ dokusundan oluşan konjonktival bir lezyon. Dermal bileşenlerin bu koristomaları normal olarak dış kantusta bulunur ve jelatinimsi bir görünüme sahiptir. Klasik olarak belirsiz posterior sınır (sıkça göz çukuru içine uzanan lezyon ile) ve limbus posterioruna bir kaç milimetre mesafede iyi sınırlı anterior sınır vardır CANDIDATE en fr HP:0500070 rdfs:label Conjunctival dermolipoma Dermolipome conjonctival OFFICIAL label of HP:0500070 (Conjunctival dermolipoma) ; abnormality of head or neck en cs HP:0500070 rdfs:label Conjunctival dermolipoma Konjunktivální dermolipom OFFICIAL en tr HP:0500070 rdfs:label Conjunctival dermolipoma Konjunktival dermolipoma OFFICIAL @@ -132978,8 +132978,8 @@ en tr HP:0500081 rdfs:label Pseudophakia Psödofaki OFFICIAL en zh HP:0500081 rdfs:label Pseudophakia 人工晶体状态 OFFICIAL en ja HP:0500081 rdfs:label Pseudophakia 仮性近視 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0500081 rdfs:label Pseudophakia Pseudofaquia OFFICIAL -en cs HP:0500086 IAO:0000115 Having a characteristic appearance of a slate gray area of pigmentation within the disc margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas. Charakteristický vzhled břidlicově šedé oblasti pigmentace v rámci okrajů disku, která se běžně objevuje podél inferotemporálního nebo temporálního neuroretinálního okraje. OFFICIAL -en tr HP:0500086 IAO:0000115 Having a characteristic appearance of a slate gray area of pigmentation within the disc margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas. Ortak olarak inferotemporal veya temporal nöroretinal sınır alanları boyunca gözüken disk sınırları içinde arduvaz grisi karakteristik bir pigmentasyon alan görünümüne sahip olan OFFICIAL +en cs HP:0500086 IAO:0000115 Having a characteristic appearance of a slate gray area of pigmentation within the disk margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas. Charakteristický vzhled břidlicově šedé oblasti pigmentace v rámci okrajů disku, která se běžně objevuje podél inferotemporálního nebo temporálního neuroretinálního okraje. CANDIDATE +en tr HP:0500086 IAO:0000115 Having a characteristic appearance of a slate gray area of pigmentation within the disk margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas. Ortak olarak inferotemporal veya temporal nöroretinal sınır alanları boyunca gözüken disk sınırları içinde arduvaz grisi karakteristik bir pigmentasyon alan görünümüne sahip olan CANDIDATE en fr HP:0500086 rdfs:label Optic nerve gray crescent Nerf optique en croissant gris OFFICIAL label of HP:0500086 (Optic nerve gray crescent) ; abnormality of the eye en cs HP:0500086 rdfs:label Optic nerve gray crescent Šedý půlměsíc zrakového nervu OFFICIAL en tr HP:0500086 rdfs:label Optic nerve gray crescent Optik sinir gri hilali OFFICIAL @@ -133018,8 +133018,8 @@ en tr HP:0500090 rdfs:label Periocular capillary hemangioma Perioküler kapiller en zh HP:0500090 rdfs:label Periocular capillary hemangioma 眼周毛细血管瘤 OFFICIAL en ja HP:0500090 rdfs:label Periocular capillary hemangioma 眼周囲毛細血管腫 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:0500090 rdfs:label Periocular capillary hemangioma Hemangioma capilar periocular OFFICIAL -en cs HP:0500091 IAO:0000115 A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva manoeuvre. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to haemorrhage. Hamartom lymfatických cest obvykle se vyskytující v dětství. Mívá tendenci zvěšit se při poloze s hlavou dolů a s Valsalvovým manévrem. Povrchové léze vypadají jako prosvítitelné cystické prostory víčka nebo spojivky a můžou obsahovat krev. Hluboké léze můžou způsobovat graduální proptózu či prezentovat se jako akutní orbitální bolest a omezení vidění z důvodu krvácení. OFFICIAL -en tr HP:0500091 IAO:0000115 A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva manoeuvre. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to haemorrhage. Genellikle çocuklukta kendini gösteren lenf damarlarının bir hamartomu. Baş aşağı duruş ve Valsalva manevrası ile boyutta artış gösterme eğilimindedir. Yüzeysel lezyonlar göz kapağının veya konjunktivanın arkadan ışık ile aydınlanabilecek, kan da içerebilen kistik boşluklar olarak görünür. Derin lezyonlar kademeli propitozise neden olabilir veya akut olarak orbital ağrı ve hemorajiye bağlı olarak azalmış görüş ile kendini gösterir OFFICIAL +en cs HP:0500091 IAO:0000115 A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva maneuver. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to hemorrhage. Hamartom lymfatických cest obvykle se vyskytující v dětství. Mívá tendenci zvěšit se při poloze s hlavou dolů a s Valsalvovým manévrem. Povrchové léze vypadají jako prosvítitelné cystické prostory víčka nebo spojivky a můžou obsahovat krev. Hluboké léze můžou způsobovat graduální proptózu či prezentovat se jako akutní orbitální bolest a omezení vidění z důvodu krvácení. CANDIDATE +en tr HP:0500091 IAO:0000115 A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva maneuver. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to hemorrhage. Genellikle çocuklukta kendini gösteren lenf damarlarının bir hamartomu. Baş aşağı duruş ve Valsalva manevrası ile boyutta artış gösterme eğilimindedir. Yüzeysel lezyonlar göz kapağının veya konjunktivanın arkadan ışık ile aydınlanabilecek, kan da içerebilen kistik boşluklar olarak görünür. Derin lezyonlar kademeli propitozise neden olabilir veya akut olarak orbital ağrı ve hemorajiye bağlı olarak azalmış görüş ile kendini gösterir CANDIDATE en fr HP:0500091 rdfs:label Lymphangioma of the orbit Lymphangiome orbitaire OFFICIAL label of HP:0500091 (Lymphangioma of the orbit) ; abnormality of head or neck ; neoplasm ; abnormality of the immune system en cs HP:0500091 rdfs:label Lymphangioma of the orbit Lymfangiom očnice OFFICIAL en tr HP:0500091 rdfs:label Lymphangioma of the orbit Göz küresi lenfanjiyoması OFFICIAL @@ -134018,14 +134018,14 @@ en cs HP:3000003 rdfs:label Abnormal mandibular ramus morphology Abnormální mo en tr HP:3000003 rdfs:label Abnormal mandibular ramus morphology Mandibular ramus anormalliği OFFICIAL en zh HP:3000003 rdfs:label Abnormal mandibular ramus morphology 下颌支形态异常 OFFICIAL en es HP:3000003 rdfs:label Abnormal mandibular ramus morphology Morfología anormal de la rama mandibular OFFICIAL -en cs HP:3000004 IAO:0000115 An abnormality of a frontalis muscle belly. Abnormalita předního bříška musculus occipitofrontalis zvaného musculus frontalis. OFFICIAL -en tr HP:3000004 IAO:0000115 An abnormality of a frontalis muscle belly. Frontalis kas karnının bir anormalliği OFFICIAL -en nl HP:3000004 rdfs:label Abnormality of frontalis muscle belly Afwijking van musculus frontalis CANDIDATE -en fr HP:3000004 rdfs:label Abnormality of frontalis muscle belly Anomalie du corps du muscle frontal OFFICIAL label of HP:3000004 (Abnormality of frontalis muscle belly) ; abnormality of the musculature ; abnormality of head or neck -en cs HP:3000004 rdfs:label Abnormality of frontalis muscle belly Abnormalita musculus frontalis OFFICIAL -en tr HP:3000004 rdfs:label Abnormality of frontalis muscle belly Frontalis kas karnının anormalliği OFFICIAL -en zh HP:3000004 rdfs:label Abnormality of frontalis muscle belly 额肌肌腹异常 OFFICIAL -en es HP:3000004 rdfs:label Abnormality of frontalis muscle belly Anomalía del músculo frontal OFFICIAL +en cs HP:3000004 IAO:0000115 Abnormal function of the frontalis muscle, which covers parts of the forehead and is responsible for raising the eyebrows. Abnormalita předního bříška musculus occipitofrontalis zvaného musculus frontalis. CANDIDATE +en tr HP:3000004 IAO:0000115 Abnormal function of the frontalis muscle, which covers parts of the forehead and is responsible for raising the eyebrows. Frontalis kas karnının bir anormalliği CANDIDATE +en nl HP:3000004 rdfs:label Abnormal frontalis muscle physiology Afwijking van musculus frontalis CANDIDATE +en fr HP:3000004 rdfs:label Abnormal frontalis muscle physiology Anomalie du corps du muscle frontal CANDIDATE label of HP:3000004 (Abnormality of frontalis muscle belly) ; abnormality of the musculature ; abnormality of head or neck +en cs HP:3000004 rdfs:label Abnormal frontalis muscle physiology Abnormalita musculus frontalis CANDIDATE +en tr HP:3000004 rdfs:label Abnormal frontalis muscle physiology Frontalis kas karnının anormalliği CANDIDATE +en zh HP:3000004 rdfs:label Abnormal frontalis muscle physiology 额肌肌腹异常 CANDIDATE +en es HP:3000004 rdfs:label Abnormal frontalis muscle physiology Anomalía del músculo frontal CANDIDATE en cs HP:3000005 IAO:0000115 An abnormality of a masseter muscle. Abnormalita žvýkacího svalu. OFFICIAL en tr HP:3000005 IAO:0000115 An abnormality of a masseter muscle. Masseter kasının bir anormalliği OFFICIAL en nl HP:3000005 rdfs:label Abnormality of masseter muscle Afwijking van musculus masseter CANDIDATE @@ -134648,7 +134648,7 @@ en cs HP:4000007 rdfs:label Bronchoconstriction Bronchokonstrikce CANDIDATE en zh HP:4000007 rdfs:label Bronchoconstriction 支气管收缩 OFFICIAL en ja HP:4000007 rdfs:label Bronchoconstriction 気管支攣縮 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:4000007 rdfs:label Bronchoconstriction Broncoconstricción OFFICIAL -en cs HP:4000008 IAO:0000115 Pronuclei formation is a critical process during fertilisation. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilisation. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilisation with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI. Tvorba prvojader je kritickým procesem během oplodnění. Normálně jsou v zygotě po oplodnění dvě prvojádra (2PN), tedy otcovské a mateřské. Obecně se uznává, že tvorba mnohočetných prvojader (MPN) je způsobena abnormální extruzí druhého polárního tělíska nebo abnormálním oplodněním více spermiemi. MPN proto může způsobit neplodnost a opakované selhání IVF/ICSI CANDIDATE +en cs HP:4000008 IAO:0000115 Pronuclei formation is a critical process during fertilization. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilization. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilization with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI. Tvorba prvojader je kritickým procesem během oplodnění. Normálně jsou v zygotě po oplodnění dvě prvojádra (2PN), tedy otcovské a mateřské. Obecně se uznává, že tvorba mnohočetných prvojader (MPN) je způsobena abnormální extruzí druhého polárního tělíska nebo abnormálním oplodněním více spermiemi. MPN proto může způsobit neplodnost a opakované selhání IVF/ICSI CANDIDATE en cs HP:4000008 rdfs:label Formation of multiple pronuclei during fertilization Tvorba mnohočetných prvojader při oplození CANDIDATE en zh HP:4000008 rdfs:label Formation of multiple pronuclei during fertilization 受精过程中多原核的形成 OFFICIAL en ja HP:4000008 rdfs:label Formation of multiple pronuclei during fertilization 受精時の複数の前核の形成 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT @@ -134743,10 +134743,10 @@ en zh HP:4000026 rdfs:label Anti-transglutaminase 6 antibody 抗谷氨酰胺转 en ja HP:4000026 rdfs:label Anti-transglutaminase 6 antibody 抗トランスグルタミナーゼ6抗体陽性 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:4000026 rdfs:label Anti-transglutaminase 6 antibody Anticuerpo antitransglutaminasa 6 OFFICIAL en cs HP:4000027 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against LAD-1, which is the soluble 120 kDa ectodomain of BP180. Přítomnost autoprotilátek (imunoglobulinů) v séru, které reagují proti LAD-1, což je rozpustná ektodoména BP180 o molekulární hmotnosti 120 kDa. CANDIDATE -en cs HP:4000027 rdfs:label anti-LAD-1 antibody positivity Pozitivita anti-LAD-1 protilátek CANDIDATE -en zh HP:4000027 rdfs:label anti-LAD-1 antibody positivity 抗LAD-1抗体阳性 OFFICIAL -en ja HP:4000027 rdfs:label anti-LAD-1 antibody positivity 抗LAD-1抗体陽性 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT -en es HP:4000027 rdfs:label anti-LAD-1 antibody positivity positividad del anticuerpo anti-LAD-1 OFFICIAL +en cs HP:4000027 rdfs:label Anti-LAD-1 antibody positivity Pozitivita anti-LAD-1 protilátek CANDIDATE +en zh HP:4000027 rdfs:label Anti-LAD-1 antibody positivity 抗LAD-1抗体阳性 OFFICIAL +en ja HP:4000027 rdfs:label Anti-LAD-1 antibody positivity 抗LAD-1抗体陽性 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT +en es HP:4000027 rdfs:label Anti-LAD-1 antibody positivity positividad del anticuerpo anti-LAD-1 OFFICIAL en cs HP:4000028 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against LABD97, which is structurally identical to a portion of the extracellular domain of BPAg2. BPAg2, a 180 kDa bullous pemphigoid antigen, is a transmembrane protein important for basement membrane cohesion. Přítomnost autoprotilátek (imunoglobulinů) v séru, které reagují proti LABD97, která je strukturně identická s částí extracelulární domény BPAg2. BPAg2, antigen bulózního pemfigoidu o molekulární hmotnosti 180 kDa, je transmembránový protein důležitý pro kohezi bazální membrány. CANDIDATE en cs HP:4000028 rdfs:label Anti-LABD97 antibody positivity Pozitivita anti-LABD97 protilátek CANDIDATE en zh HP:4000028 rdfs:label Anti-LABD97 antibody positivity 抗LABD97抗体阳性 OFFICIAL @@ -134887,7 +134887,7 @@ en cs HP:4000055 rdfs:label Intestinal inflammation Zánět střev CANDIDATE en zh HP:4000055 rdfs:label Intestinal inflammation 肠炎 OFFICIAL en ja HP:4000055 rdfs:label Intestinal inflammation 腸炎 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:4000055 rdfs:label Intestinal inflammation Inflamación intestinal OFFICIAL -en cs HP:4000056 IAO:0000115 Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterised by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighbouring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response. Jakákoli abnormalita programované buněčné smrti (apoptózy), která je definována jako organizovaný zánik buňky charakterizovaný blebbingem membrány (vznikem nepravidelných záhybů), smršťováním buňky, kondenzací chromatinu a fragmentací DNA, po níž následuje rychlé pohlcení zbylého materiálu sousedními buňkami. Apoptóza se od smrti nekrózou liší absencí související zánětlivé reakce. CANDIDATE +en cs HP:4000056 IAO:0000115 Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterized by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighboring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response. Jakákoli abnormalita programované buněčné smrti (apoptózy), která je definována jako organizovaný zánik buňky charakterizovaný blebbingem membrány (vznikem nepravidelných záhybů), smršťováním buňky, kondenzací chromatinu a fragmentací DNA, po níž následuje rychlé pohlcení zbylého materiálu sousedními buňkami. Apoptóza se od smrti nekrózou liší absencí související zánětlivé reakce. CANDIDATE en cs HP:4000056 rdfs:label Abnormal apoptosis Abnormální apoptóza CANDIDATE en zh HP:4000056 rdfs:label Abnormal apoptosis 细胞凋亡异常 OFFICIAL en ja HP:4000056 rdfs:label Abnormal apoptosis アポトーシス異常 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT @@ -135008,7 +135008,7 @@ en cs HP:4000084 rdfs:label Reduced sharing of interests Omezené sdílení záj en zh HP:4000084 rdfs:label Reduced sharing of interests 兴趣分享减少 OFFICIAL en ja HP:4000084 rdfs:label Reduced sharing of interests 興味の共有の減少 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:4000084 rdfs:label Reduced sharing of interests Reducción del intercambio de intereses OFFICIAL -en cs HP:4000085 IAO:0000115 An absence or reduction in object sharing. Object sharing is an early emerging social skill in which a child will share objects such as toys, balls, or books with parents or peers during object play. Object sharing typically develops within the first two years of life. Absence nebo omezení sdílení objektů. Sdílení objektů je raně se objevující sociální dovednost, ve které chce dítě sdílet předměty s rodiči nebo vrstevníky během hry s předměty. Sdílení objektů se obvykle rozvíjí během prvních dvou let života. CANDIDATE +en cs HP:4000085 IAO:0000115 An absence or reduction in object sharing. Object sharing is an early emerging social skill in which a child will share objects such as toys, balls, or books with parents or peers during object play. Absence nebo omezení sdílení objektů. Sdílení objektů je raně se objevující sociální dovednost, ve které chce dítě sdílet předměty s rodiči nebo vrstevníky během hry s předměty. Sdílení objektů se obvykle rozvíjí během prvních dvou let života. CANDIDATE en cs HP:4000085 rdfs:label Reduced object sharing Omezené sdílení objektů CANDIDATE en zh HP:4000085 rdfs:label Reduced object sharing 物品分享减少 OFFICIAL en ja HP:4000085 rdfs:label Reduced object sharing 物体の共有の減少 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT @@ -135033,7 +135033,7 @@ en cs HP:4000090 rdfs:label Abnormal gesture use Abnormální užívání gest C en zh HP:4000090 rdfs:label Abnormal gesture use 异常的交流手势 CANDIDATE en ja HP:4000090 rdfs:label Abnormal gesture use ジェスチャーの異常使用 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:4000090 rdfs:label Abnormal gesture use Gestos comunicativos anormales CANDIDATE -en cs HP:4000092 IAO:0000115 Reduced ability to conduct a reciprocal (back and forth) conversation, as expected for language level. Snížená schopnost vést vzájemnou konverzaci (tam a zpět) charakterizovaná nedostatky ve schopnosti komentovat témata diskuse ostatních, neumět klást otázky a nestavět konverzaci na komentářích ostatních. Postižené osoby nemusí vědět, co mají v rozhovoru říct dál, nemusí si všimnout, zda se ostatní daným tématem nudí, mohou vést jednostrannou konverzaci (mluvit, ale neposlouchat) nebo mohou odbíhat od tématu více, než je společensky přijatelné. CANDIDATE +en cs HP:4000092 IAO:0000115 Reduced use of reciprocal (back and forth) conversation, as compared to what would be expected for language level. Snížená schopnost vést vzájemnou konverzaci (tam a zpět) charakterizovaná nedostatky ve schopnosti komentovat témata diskuse ostatních, neumět klást otázky a nestavět konverzaci na komentářích ostatních. Postižené osoby nemusí vědět, co mají v rozhovoru říct dál, nemusí si všimnout, zda se ostatní daným tématem nudí, mohou vést jednostrannou konverzaci (mluvit, ale neposlouchat) nebo mohou odbíhat od tématu více, než je společensky přijatelné. CANDIDATE en cs HP:4000092 rdfs:label Poor conversational reciprocity Špatná reciprtocita při konverzaci CANDIDATE en zh HP:4000092 rdfs:label Poor conversational reciprocity 会话的相互性差 OFFICIAL en ja HP:4000092 rdfs:label Poor conversational reciprocity 会話の相互性の欠如 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT @@ -135621,12 +135621,12 @@ en ja HP:5200015 rdfs:label Muted facial expression 無表情 OFFICIAL http://p en es HP:5200015 rdfs:label Muted facial expression Expresión facial apagada OFFICIAL en ja HP:5200016 rdfs:label Abnormal peer relationships 異常な仲間関係 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:5200016 rdfs:label Abnormal peer relationships Relaciones anormales con los compañeros OFFICIAL -en ja HP:5200017 rdfs:label Abnormal movements of face and head 顔や頭の異常な動き OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT -en es HP:5200017 rdfs:label Abnormal movements of face and head Movimientos anormales de la cara y la cabeza. OFFICIAL -en ja HP:5200018 rdfs:label Abnormal movements of the upper extremities 上肢の異常な動き OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT -en es HP:5200018 rdfs:label Abnormal movements of the upper extremities Movimientos anormales de las extremidades superiores OFFICIAL -en ja HP:5200019 rdfs:label Abnormal movements of the whole body 全身の異常な動き OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT -en es HP:5200019 rdfs:label Abnormal movements of the whole body Movimientos anormales de todo el cuerpo OFFICIAL +en ja HP:5200017 rdfs:label Steroetypic movements of face and head 顔や頭の異常な動き CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT +en es HP:5200017 rdfs:label Steroetypic movements of face and head Movimientos anormales de la cara y la cabeza. CANDIDATE +en ja HP:5200018 rdfs:label Steroetypic upper-extremity movements 上肢の異常な動き CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT +en es HP:5200018 rdfs:label Steroetypic upper-extremity movements Movimientos anormales de las extremidades superiores CANDIDATE +en ja HP:5200019 rdfs:label Stereotypic whole-body movements 全身の異常な動き CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT +en es HP:5200019 rdfs:label Stereotypic whole-body movements Movimientos anormales de todo el cuerpo CANDIDATE en ja HP:5200020 rdfs:label Abnormal interest in others 他者への異常な関心 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:5200020 rdfs:label Abnormal interest in others Interés anormal en las demás personas OFFICIAL en ja HP:5200021 rdfs:label Reduced social insight 社会的洞察力の低下 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT @@ -135655,8 +135655,8 @@ en ja HP:5200035 rdfs:label Reduced cooperative imaginative play 共同的な想 en es HP:5200035 rdfs:label Reduced cooperative imaginative play Disminución de la actitud al juego imaginativo colaborativo CANDIDATE en ja HP:5200036 rdfs:label Reduced responsiveness to verbal cues 言葉による合図に反応しない。 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:5200036 rdfs:label Reduced responsiveness to verbal cues Falta de respuesta a señales verbales. CANDIDATE -en ja HP:5200037 rdfs:label Lack of expressed empath 交感神経表現の減少 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT -en es HP:5200037 rdfs:label Lack of expressed empath Expresión simpática reducida. CANDIDATE +en ja HP:5200037 rdfs:label Lack of expressed empathy 交感神経表現の減少 CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT +en es HP:5200037 rdfs:label Lack of expressed empathy Expresión simpática reducida. CANDIDATE en ja HP:5200038 rdfs:label Bradylalia ブラディラリア OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT en es HP:5200038 rdfs:label Bradylalia Bradilalia OFFICIAL en ja HP:5200039 rdfs:label Excessively loud speech 声が大きすぎる。 OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 EXACT @@ -135811,7 +135811,7 @@ en es HP:5200231 rdfs:label Hypervigilance Hipervigilancia OFFICIAL en es HP:5200232 rdfs:label Phobia Fobia OFFICIAL en es HP:5200233 rdfs:label Anticipatory anxiety Ansiedad anticipatoria OFFICIAL en es HP:5200234 rdfs:label Flight of ideas Vuelo de ideas OFFICIAL -en es HP:5200235 rdfs:label Thought disorder Trastorno del pensamiento OFFICIAL +en es HP:5200235 rdfs:label Disorganized speech or communication Trastorno del pensamiento CANDIDATE en es HP:5200237 rdfs:label Pronunciation difficulties Dificultades de pronunciación OFFICIAL en es HP:5200238 rdfs:label Vowel expressive impediment Impedimento expresivo vocal OFFICIAL en es HP:5200239 rdfs:label Consonant expressive impediment Impedimento expresivo consonante OFFICIAL diff --git a/src/translations/hp-cs-changed.babelon.tsv b/src/translations/hp-cs-changed.babelon.tsv index bb829cf7f..2c9cd237e 100644 --- a/src/translations/hp-cs-changed.babelon.tsv +++ b/src/translations/hp-cs-changed.babelon.tsv @@ -14,9 +14,13 @@ en cs HP:0000204 IAO:0000115 A gap in the upper lip. This is a congenital defect en cs HP:0000326 rdfs:label Abnormality of the maxilla Abnormalita horní čelisti OFFICIAL en cs HP:0000372 IAO:0000115 An abnormality of the External acoustic tube (also known as the auditory canal) Abnormalita zevního zvukovodu (meatus acusticus externus) OFFICIAL en cs HP:0000372 rdfs:label Abnormality of the auditory canal Abnormalita zvukovodu OFFICIAL +en cs HP:0000415 rdfs:label Abnormality of the choanae Abnormalita choan OFFICIAL +en cs HP:0000543 IAO:0000115 A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression Bledě žludá diskolorace optického disku (místo, kde nervus opticus vstupuje do retiny). Standartní je růžovkasté zbarvení s cetrální žlutkastou depresí OFFICIAL en cs HP:0000587 rdfs:label Abnormality of the optic nerve Abnormalita optického nervu OFFICIAL en cs HP:0000618 IAO:0000115 Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation Slepota je definována jako ztráta zrakového vnímání při zrakové ostrosti menší než 3/60 nebo při velikosti zrakového pole užší než 10 stupňů kolem centrálního bodu fixace. OFFICIAL +en cs HP:0000657 IAO:0000115 Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex Okulomotorická apraxie je porucha dobrovolných a cílených pohybů očí v horizontální rovině a porucha vůlí iniciovaných sakád. Zachované jsou hladké sledovací pohyby očí. Neschopnost pohybu okem se kompenzuje pohybem hlavy. Porušeny ale můžou být i hladké sledovací pohyby a vestibulo-okulární reflex OFFICIAL en cs HP:0000677 IAO:0000115 The absence of six or more teeth from the normal series by a failurento develop Vývojová anomálie charakterizovaná zmenšeným počtem zubů, při níž chybí více než 6 zubů CANDIDATE +en cs HP:0000683 IAO:0000115 A grey discoloration of the dental enamel Šedá diskolorace zubní skloviny OFFICIAL en cs HP:0000708 IAO:0000115 An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities Abnormalita psychického fungování, včetně různých afektivních, behaviorálních, kognitivních a percepčních abnormalit OFFICIAL en cs HP:0000708 rdfs:label Behavioral abnormality Behaviorální abnormalita OFFICIAL en cs HP:0000709 IAO:0000115 A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs Stav charakterizovaný změnami osobnosti a myšlenkových vzorců, často doprovázené halucinacemi a bludy OFFICIAL @@ -31,7 +35,6 @@ en cs HP:0000722 rdfs:label Obsessive-compulsive behavior Obsedantně-kompulzivn en cs HP:0000723 IAO:0000115 Behavior characterized by an abnormal limitation to few interests and activities Chování charakterizované mimořádným omezeným okruhem zájmů a aktivit OFFICIAL en cs HP:0000732 rdfs:label Inflexible adherence to routines or rituals Tvrdošíjné dodržování rutin nebo rituálů OFFICIAL en cs HP:0000733 IAO:0000115 A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral Stereotypie jsou repetitivní, jednoduché pohyby, které jsou potlačitelné vůlí. Obvykle jsou jednoduchého charakteru, například mávání rukami, a nezahrnují komplexní sekvence či frakce pohybů. Pohyby jsou často, ale ne vždy rytmické, a můžou zahrnovat prsty, zápěstí, či více proximální části horní končetiny. Použití dolních končetin není typické. Častější jsou stereotypie bilaterální než unilaterální OFFICIAL -en cs HP:0000733 rdfs:label Motor stereotypy Motorická stereotypie OFFICIAL en cs HP:0000734 IAO:0000115 A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment Nedostatečná zdrženlivost, projevuje se několika způsoby, včetně ignorování sociálních konvencí, impulzivity a špatného hodnocení rizik OFFICIAL en cs HP:0000735 rdfs:label Impaired social interactions Porucha sociální interakce OFFICIAL en cs HP:0000736 IAO:0000115 Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder Porucha pozornosti je charakterizovaná impulzivitou, pozornost pacienta je jednoduše rozptýlitelná, ale nejsou splněny kritéria pro ADHD OFFICIAL @@ -62,6 +65,7 @@ en cs HP:0001167 rdfs:label Abnormality of finger Abnormalita prstu OFFICIAL en cs HP:0001180 rdfs:label Hand oligodactyly Oligodaktylie ruky OFFICIAL en cs HP:0001218 IAO:0000115 Spontaneous detachment (amputation) of an appendage from the body Samovolná amputace (oddělení) části končetiny OFFICIAL en cs HP:0001249 IAO:0000115 Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70 Subnormální kognitivní funkce, která vznikla během vývojového období. Intelektová nedostatečnost, dříve označovaná jako mentální retardace je definována jako IQ skóre pod 70 OFFICIAL +en cs HP:0001250 IAO:0000115 A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain Křeče (epileptické křeče, epileptický záchvat) jsou přechodnou abnormalitou centrální nervové soustavy způsobenou anormálními výboji mozkových neuronů klinicky charakterizovanou kombinacemi poruch čití, ztráty vědomí, postižení psychických funkcí či křečovitých pohybů. Termín epilepsie se používá k popisu chronických, rekurentních záchvatů CANDIDATE en cs HP:0001254 IAO:0000115 A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating Stav nezájmu, netečnosti a lhostejnosti vedoucí k neschopnosti provádět jednoduché úkoly OFFICIAL en cs HP:0001259 IAO:0000115 Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli Kvantitativní porucha vědomí - absence vědomí, absence odpovědi na jakékoliv externí stimuly OFFICIAL en cs HP:0001279 IAO:0000115 Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow Synkopa je náhlá generalizovaná svalová slabost se ztrátou posturálního tonu, neschopností stoje a ztrátou vědomí. Po umístnění pacienta do horizontální pozice se obnoví adekvátní překrvení mozku a pacient nabyde vědomí. Bezvědomí trvá sekundy až minuty. Po atace synkopy, na rozdíl od epilepsie, nebývá přítomna bolest hlavy a spavost. Synkopa je důsledkem náhlého porušení metabolismu mozku způsobeného snížením průtoku krve cerebrálními cévami OFFICIAL @@ -84,16 +88,20 @@ en cs HP:0001761 IAO:0000115 The presence of an unusually high plantar arch. Als en cs HP:0001780 rdfs:label Abnormality of toe Abnormalita prstů nohy OFFICIAL en cs HP:0001844 rdfs:label Abnormality of the hallux Abnormalita palce na noze OFFICIAL en cs HP:0001868 IAO:0000115 Spontaneous detachment of a foot from the body Spontánní oddělení chodidla od těla OFFICIAL +en cs HP:0001900 rdfs:label Increased hemoglobin Zvýšený hemoglobín OFFICIAL en cs HP:0002006 rdfs:label Facial cleft Rozštěp obličeje OFFICIAL en cs HP:0002039 IAO:0000115 A lack or loss of appetite for food (as a medical condition) Nedostatek nebo ztráta chuti k jídlu (jako zdravotní stav) OFFICIAL en cs HP:0002047 IAO:0000115 Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine Maligní hypertermie je charakterizována rychlým zvýšením teploty na 39-42 °C v reakci na inhalační anestetika, jako je halothan, nebo na svalová relaxancia, jako je sukcinylcholin OFFICIAL en cs HP:0002062 rdfs:label Morphological abnormality of the pyramidal tract Morfologická abnormalita pyramidové dráhy OFFICIAL +en cs HP:0002121 IAO:0000115 A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features Záchvaty typu absence se projevují náhlým zastavením aktivity a vědomí. Absence se obvykle vyskytují v mladších věkových skupinách, mají náhlejší začátek a konec a obvykle se u nich projevují méně komplexní automatizmy než u fokálních záchvatů s poruchou vědomí, ale toto rozlišení není absolutní. OFFICIAL +en cs HP:0002123 IAO:0000115 A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus Generalizovaný myoklonický záchvat je typ generalizovaného motorického záchvatu charakterizovaného bilaterální, náhlou, krátkou (100 ms) mimovolní kontrakcí jednoho nebo více svalů nebo svalových skupin s různou topografií (axiální, proximální končetiny, distální). Myoklonus je méně pravidelně se opakující a méně trvalý než klonus. OFFICIAL en cs HP:0002143 IAO:0000115 An abnormality of the spinal cord (myelon) Abnormalita míchy OFFICIAL en cs HP:0002143 rdfs:label Abnormality of the spinal cord Abnormalita míchy OFFICIAL en cs HP:0002151 rdfs:label Increased serum lactate Zvýšení sérového laktátu OFFICIAL en cs HP:0002167 rdfs:label Neurological speech impairment Neurologická porucha řeči OFFICIAL en cs HP:0002193 IAO:0000115 Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc Jedinci s pseudobulbárními příznaky často vykazují abnormální behaviorální příznaky, jako jsou nepřiměřené výbuchy nekontrolovaného smíchu nebo pláče atd. OFFICIAL en cs HP:0002193 rdfs:label Pseudobulbar behavioral symptoms Pseudobulbární behaviorální symptomy OFFICIAL +en cs HP:0002224 IAO:0000115 The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter Termín vlnité vlasy označuje abnormální variantu vlasů, které jsou jemné, s pevně stočenými kadeřemi a často hypopigmentované. Optická mikroskopie může odhalit přítomnost těsných spirál a zřetelné zmenšení průměru ve srovnání s normálními vlasy. Elektronová mikroskopie může ukázat ploché, oválné vlasové stvoly se zmenšeným příčným průměrem. CANDIDATE en cs HP:0002235 IAO:0000115 Uncombable hair Neučesatelné vlasy OFFICIAL en cs HP:0002244 IAO:0000115 An abnormality of the small intestine Abnormalita tenkého střeva OFFICIAL en cs HP:0002244 rdfs:label Abnormality of the small intestine Abnormalita tenkého střeva OFFICIAL @@ -104,6 +112,7 @@ en cs HP:0002360 rdfs:label Sleep disturbance Porucha spánku OFFICIAL en cs HP:0002367 IAO:0000115 Visual perceptions that are not elicited by a corresponding stimulus from the outside world Vizuální vjemy, které nejsou vyvolány odpovídajícím podnětem z vnějšího světa. CANDIDATE en cs HP:0002367 rdfs:label Visual hallucinations Zrakové halucinace OFFICIAL en cs HP:0002461 rdfs:label Dense calcifications in the cerebellar dentate nucleus Denzní kalcifikace mozečkového jádra nucleus dentatus OFFICIAL +en cs HP:0002476 IAO:0000115 The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant Primitivní reflexy jsou skupinou behaviorálních motorických reakcí, které se vyskytují v normálním raném vývoji, následně jsou inhibovány, ale mohou být uvolněny z inhibice při poškození mozku, obvykle frontálním. Jsou tedy součástí širší skupiny reflexů, které odrážejí uvolňovací jevy, jako jsou přehnané natahovací reflexy a extenzorové plantární reflexy. Zahrnují však složitější motorické reakce než tyto jednoduché protahovací reflexy a jsou často normálním rysem u novorozenců nebo kojenců. OFFICIAL en cs HP:0002492 rdfs:label Morphological abnormality of the corticospinal tract Morfologická abnormalita kortikospinální dráhy OFFICIAL en cs HP:0002494 IAO:0000115 Abnormality of REM sleep. Phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tonus except for the eye and middle-ear muscles. There are then phases of rapid eye movements Abnormality REM spánku. Fáze spánku REM jsou charakterizovány desynchronizovanými EEG vzory, zvýšením srdeční frekvence a krevního tlaku, aktivací sympatiku a hlubokou ztrátou svalového tonusu s výjimkou svalů oka a středního ucha. Pak následují fáze rychlých pohybů očí OFFICIAL en cs HP:0002514 IAO:0000115 The presence of calcium deposition within brain structures Přítomnost vápnikových depozit v strukturách mozku OFFICIAL @@ -113,6 +122,7 @@ en cs HP:0002585 rdfs:label Abnormality of the peritoneum Abnormalita peritonea en cs HP:0002664 IAO:0000115 An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour) Abnormalita orgánu nebo orgánového systému, která spočívá v nekontrolované autonomní buněčné proliferaci, která se může objevit v jakékoli části těla jako benigní nebo maligní novotvar (nádor) OFFICIAL en cs HP:0002686 rdfs:label Prenatal maternal abnormality Prenatální mateřská abnormalita OFFICIAL en cs HP:0002693 rdfs:label Abnormality of the skull base Abnormalita lebeční báze OFFICIAL +en cs HP:0002744 rdfs:label Bilateral cleft lip and palate Rozštěp tvrdého patra s oboustranným rozštěpem rtu OFFICIAL en cs HP:0002761 IAO:0000115 Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body Kloubní hypermobilita (schopnost kloubů dosáhnout pozic mimo jejich standardní rozmezí pohybu) postihující mnoho nebo všechny klouby těla. OFFICIAL en cs HP:0002761 rdfs:label Generalized joint laxity Generalizovaná laxicita kloubů OFFICIAL en cs HP:0002813 rdfs:label Abnormality of limb bone morphology Abnormalita morfologie kostí končetin OFFICIAL @@ -133,6 +143,7 @@ en cs HP:0003172 IAO:0000115 An anomaly of the the pubic bone, i.e., of the vent en cs HP:0003172 rdfs:label Abnormality of the pubic bone Abnormalita pubické kosti OFFICIAL en cs HP:0003174 rdfs:label Abnormality of the ischium Abnormalita ischia OFFICIAL en cs HP:0003219 IAO:0000115 An increased concentration of ethylmalonic acid in the urine Zvýšená koncentrace kyseliny ethylmalonové v moči. OFFICIAL +en cs HP:0003220 IAO:0000115 A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration Typ chromozomové aberace charakterizovaný sníženou odolností chromozomů k poškození OFFICIAL en cs HP:0003223 IAO:0000115 Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12 Snížená koncentrace methylkobalaminu. Methylkobalamin je forma vitaminu B12 OFFICIAL en cs HP:0003223 rdfs:label Decreased methylcobalamin Snížení methylkobalaminu OFFICIAL en cs HP:0003234 IAO:0000115 A decreased concentration of carnitine in the blood Snížená koncentrace karnitinu v krvi OFFICIAL @@ -142,27 +153,36 @@ en cs HP:0003310 IAO:0000115 Abnormality of the dens of the axis, which is also en cs HP:0003310 rdfs:label Abnormality of the odontoid process Abnormalita processus odontoideus OFFICIAL en cs HP:0003345 IAO:0000115 An increased concentration of noradrenaline in the urine Zvýšená koncentrace noradrenalinu v moči OFFICIAL en cs HP:0003345 rdfs:label Elevated urinary norepinephrine Zvýšená hladina norepinefrinu v moči. OFFICIAL +en cs HP:0003452 rdfs:label Increased serum iron Zvýšené sérové železo OFFICIAL en cs HP:0003528 rdfs:label Elevated calcitonin Zvýšený kalcitonin OFFICIAL en cs HP:0003532 IAO:0000115 An increased concentration of ornithine in the urine Zvýšená koncentrace ornitinu v moči OFFICIAL +en cs HP:0003637 IAO:0000115 An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase level Abnormální snížení hladiny 4-hydroxyfenylpyruvátdioxygenázy OFFICIAL +en cs HP:0003637 rdfs:label Reduced 4-Hydroxyphenylpyruvate dioxygenase level Snížená hladina 4-hydroxyfenylpyruvátdioxygenázy OFFICIAL en cs HP:0003639 IAO:0000115 An increased concentration of adrenaline in the urine Zvýšená koncentrace adrenalinu v moči OFFICIAL en cs HP:0003639 rdfs:label Elevated urinary epinephrine Zvýšený epinefrin v moči OFFICIAL en cs HP:0003657 rdfs:label Granular osmiophilic deposits (GROD) in cells Granulární osmiofilní depozita (GROD) v buňkách OFFICIAL en cs HP:0003741 rdfs:label Congenital muscular dystrophy Vrozená svalová dystrofie OFFICIAL en cs HP:0003763 IAO:0000115 Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep, but also can occcur while the affected individual is awake Bruxismus je charakterizovaný jako skřípání zuby s pevným sevřením čelistí typicky během spánku CANDIDATE en cs HP:0003839 rdfs:label Abnormality of upper limb epiphysis morphology Abnormalita morfologie epifýz horních končetin OFFICIAL +en cs HP:0004328 IAO:0000115 An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens) Abnormalita předního segmentu oční koule (který zahrnuje struktury před sklivcem: rohovku, duhovku, řasnaté tělísko a čočku). OFFICIAL en cs HP:0004342 IAO:0000115 Abnormality of galactoside metabolism. A galactoside is a glycoside (a suger moiety bound to some other moiety) containing galactose Abnormalita metabolismu galaktosidu. Galaktosid je glykosid (cukerná skupina vázaná na skupinu jinou) obsahující galaktózu OFFICIAL en cs HP:0004362 rdfs:label Abnormality of enteric ganglion morphology Abnormalita morfologie střevních ganglií OFFICIAL en cs HP:0004372 rdfs:label Reduced consciousness/confusion Porucha vědomí/zmatenost OFFICIAL en cs HP:0004376 IAO:0000115 A family of tumours arising in the embryonal remnants of the sympathetic nervous system, which includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma Rodina nádorů vznikajících ze zbytků embryonální tkáně sympatického nervového systému, která zahrnuje neuroblastom, ganglioneuroblastom a ganglioneurom. CANDIDATE +en cs HP:0004398 IAO:0000115 The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the oesophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers Termín peptický vřed označuje kyselé peptické poškození trávicího traktu, které vede k porušení sliznice až do podkoží. Peptické vředy se obvykle nacházejí v žaludku nebo proximálním duodenu, ale mohou se vyskytovat i v jícnu nebo Meckelově divertiklu. Infekce Helicobacter pylori a užívání nesteroidních protizánětlivých léků (NSAID) nebo aspirinu jsou hlavními rizikovými faktory vzniku žaludečních i dvanáctníkových vředů. OFFICIAL +en cs HP:0004431 rdfs:label Complement deficiency Nedostatek komplementu OFFICIAL en cs HP:0004434 IAO:0000115 A reduced level of the complement component C8 in circulation Snížená hladina C8 složky komplementu v krevním oběhu OFFICIAL en cs HP:0004434 rdfs:label Decreased serum complement C8 Nedostatek C8 CANDIDATE en cs HP:0004466 rdfs:label Prolonged brainstem auditory evoked potentials Prodloužené kmenové sluchové evokované potenciály OFFICIAL +en cs HP:0004857 IAO:0000115 A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin Typ anémie, která se projevuje abnormálně velkými erytrocyty s abnormálně vysokým množstvím hemoglobinu. CANDIDATE en cs HP:0004905 IAO:0000115 A reduced concentration of vitamin A Snížená koncentrace vitaminu A CANDIDATE en cs HP:0004905 rdfs:label Low levels of vitamin A Nízká hladina vitaminu A OFFICIAL en cs HP:0005019 rdfs:label Diaphyseal thickening Diafyzální ztluštění OFFICIAL en cs HP:0005072 rdfs:label Hyperextensibility at wrists Hyperextenzibilita zápěstí OFFICIAL +en cs HP:0005106 IAO:0000115 Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs Jakákoliv abnormalita krycích ploch obratlů, které jsou na vrchní a spodní části těla obratle, které naléhají na meziobratlové ploténky OFFICIAL en cs HP:0005186 rdfs:label Synovial hypertrophy Synoviální hypertrofie OFFICIAL en cs HP:0005262 rdfs:label Abnormality of the synovia Abnormalita synovie OFFICIAL +en cs HP:0005289 rdfs:label Abnormality of the nasolabial region Abnormalita nazolabiální oblasti OFFICIAL en cs HP:0005347 IAO:0000115 Tracheal cartilaginous sleeve (TCS) is a rare congenital airway malformation in which distinct tracheal rings are replaced by a continuous cartilaginous segment. Vertically fused C- or O-shaped cartilaginous rings can extend from the subglottis to the carina or bronchus with little to no pars membranacea posteriorly.nComment:Tracheal cartilaginous sleeve has been associated with various craniosynostosis syndromes Tracheal cartilaginous sleeve (tracheální chrupavčitý návlek) je vzácná vrozená malformace dýchacích cest, při které jsou jednotlivé tracheální prstence nahrazeny souvislým chrupavčitým segmentem. Vertikálně srostlé chrupavčité prstence ve tvaru C nebo O se mohou rozprostírat od subglottis ke carina tracheae nebo bronchu a mají malou nebo žádnou pars membranacea na zadní stěně. Komentář: Tracheální chrupavčitý návlek je spojován s různými syndromy kraniosynostózy. CANDIDATE en cs HP:0005356 IAO:0000115 A reduced level of the complement component Factor I in circulation Snížená hladina faktoru I složky komplementu v krevním oběhu OFFICIAL en cs HP:0005356 rdfs:label Decreased serum complement factor I Snížený sérový komplementový faktor I OFFICIAL @@ -189,6 +209,8 @@ en cs HP:0006254 IAO:0000115 An increased concentration of alpha-fetoprotein Zv en cs HP:0006254 rdfs:label Elevated alpha-fetoprotein Zvýšená alfa-fetoprotein OFFICIAL en cs HP:0006344 rdfs:label Abnormality of primary molar morphology Abnormalita morfologie dočasného premoláru OFFICIAL en cs HP:0006380 IAO:0000115 A bent (flexed) knee joint that cannot be straightened actively or passively Ohnutý (ve flexi) kolenní kloub nelze narovnat aktivně nebo pasivně OFFICIAL +en cs HP:0006417 rdfs:label Broad femoral metaphyses Široké metafýzy femuru OFFICIAL +en cs HP:0006431 rdfs:label Proximal femoral metaphyseal abnormality Abnormalita proximální femorální metafýzy OFFICIAL en cs HP:0006477 rdfs:label Abnormality of the alveolar ridges Abnormalita alveolárních výběžků OFFICIAL en cs HP:0006482 rdfs:label Abnormality of dental morphology Abnormalita morfologie zubu OFFICIAL en cs HP:0006499 rdfs:label Abnormality of femoral epiphysis Abnormalita epifýzy femuru OFFICIAL @@ -206,9 +228,16 @@ en cs HP:0006977 rdfs:label Grammar-specific speech disorder Gramaticky specific en cs HP:0006979 IAO:0000115 Any abnormal alteration of an individual's circadian rhythm that affects the timing of sleeping and being awake Jakákoli abnormální změna cirkadiánního rytmu jedince, která ovlivňuje načasování spánku a bdění. OFFICIAL en cs HP:0007081 rdfs:label Late-onset muscular dystrophy Svalová atrofie s pozdním nástupem OFFICIAL en cs HP:0007227 rdfs:label Macrogyria Makrogyrie OFFICIAL +en cs HP:0007270 IAO:0000115 An atypical absence seizure is a type of generalised non-motor (absence) seizure characterised by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity Atypický záchvat absence je typ generalizovaného nemotorického záchvatu (absence), který se vyznačuje přerušením probíhajících činností a sníženou reaktivitou. Ve srovnání s typickým záchvatem absence mohou být změny tonu výraznější, nástup a/nebo ukončení záchvatu mohou být méně náhlé a doba trvání iktu a zotavení po záchvatu může být delší. Ačkoli není vždy k dispozici, EEG často prokazuje pomalou (<3 Hz), nepravidelnou, generalizovanou aktivitu s hroty a vlnami. OFFICIAL +en cs HP:0007413 IAO:0000115 Naevus flammeus localised in the skin of the forehead Naevus flammeus lokalizovaný na kůži čela OFFICIAL en cs HP:0007544 IAO:0000115 Piebaldism is characterized by stable and persistent, well-circumscribed depigmented patches present at birth affecting the skin of the face, trunk, and extremities in a symmetrical distribution Piebaldismus je charakterizován stabilními a trvalými, dobře ohraničenými depigmentovanými skvrnami přítomnými po narození, které postihují kůži obličeje, trupu a končetin v symetrickém rozložení. OFFICIAL en cs HP:0007544 rdfs:label Piebaldism Piebaldismus OFFICIAL en cs HP:0007576 rdfs:label Palmar neurofibromas Dlaňové neurofibromy OFFICIAL +en cs HP:0007616 IAO:0000115 Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns Naevus flammeus lokalizovaný na kůži na krku. Jedná se o jedno z nejčastějších mateřských znamének, které se vyskytuje přibližně u 25 % všech novorozenců. OFFICIAL +en cs HP:0007634 IAO:0000115 An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates Akutní stav charakterizovaný náhlou ztrátou zraku (obvykle zjištěnou ráno), edémem optického disku na počátku, defekty zorného pole souvisejícími s optickým diskem. Nearteritická přední ischemická optická neuropatie může být spojena s plamenkovitými krváceními na oteklém disku nebo blízké neuroretinální vrstvě a někdy s blízkými vatovitými exsudáty. OFFICIAL +en cs HP:0007773 IAO:0000115 Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment Oční abnormalita charakterizovaná předčasnou degenerací sklivce a sítnice, která může být spojena se zvýšeným rizikem odchlípení sítnice. OFFICIAL +en cs HP:0007894 IAO:0000115 Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid) Snížená pigmentace očního fundu, typicky generalizovaná. Pomocí fundoskopie můžeme odhalit nízkou hladinu pigmentu v oblasti RPE a cévnatku s dobre viditelnými choroidálními cévami (bledé/albinoidní) nebo nízkou hladinu pigmentu v oblasti RPE s hlubokým pigmentem v cévnatce, takže viditelné choroidální cévy jsou odděleny hluboce pigmentovanými zónami (teselované/tigroidní ). OFFICIAL +en cs HP:0007968 IAO:0000115 Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract Perzistence hyaloidní tepny, což je embryonální tepna, která vede od disku zrakového nervu k zadnímu pouzdru čočky; místo úponu může tvořit zákal. Hyaloidní tepna je větví oftalmické tepny a obvykle zcela regreduje před narozením. Tato vlastnost je důsledkem selhání regrese hyaloidní cévy, která zásobuje primární sklivec během embryogeneze a normálně regreduje ve třetím trimestru těhotenství, což vede ke zvláštní formě zadní katarakty. OFFICIAL en cs HP:0008075 rdfs:label Progressive pes cavus Progresivní pes cavus OFFICIAL en cs HP:0008112 rdfs:label Plantar flexion contractures Plantární flekční kontraktury OFFICIAL en cs HP:0008160 IAO:0000115 An increase in the level of 3-hydroxydicarboxylic acid in the urine Zvýšení hladiny kyseliny 3-hydroxydikarboxylové v moči OFFICIAL @@ -218,9 +247,14 @@ en cs HP:0008344 IAO:0000115 An increased concentration of a branched chain amin en cs HP:0008344 rdfs:label Elevated plasma branched chain amino acids Zvýšené plazmatické aminokyseliny s rozvětveným řetězcem OFFICIAL en cs HP:0008372 rdfs:label Abnormality of vitamin A metabolism Abnormalita metabolizmu vitaminu A OFFICIAL en cs HP:0008376 rdfs:label Nasal, dysarthic speech Nosní, dysartická řeč OFFICIAL +en cs HP:0008419 rdfs:label Intervertebral disc degeneration Degenerace meziobratlové ploténky OFFICIAL en cs HP:0008480 IAO:0000115 The presence of arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column Přítomnost artrózy, t.j. degenarativní nemoci kloubů, postihující krční páteř OFFICIAL +en cs HP:0008498 rdfs:label No permanent dentition Chybění trvalého chrupu OFFICIAL +en cs HP:0008501 rdfs:label Median cleft lip and palate Středový rozštěpený rtu a patra OFFICIAL en cs HP:0008572 rdfs:label External ear malformation Malformace zevního ucha OFFICIAL en cs HP:0008609 rdfs:label Morphological abnormality of the middle ear Morfologická anomálie středního ucha OFFICIAL +en cs HP:0008635 IAO:0000115 Abnormal enlargement of the urinary bladder Abnormální zvětšení močového měchýře. OFFICIAL +en cs HP:0008635 rdfs:label Hypertrophy of the urinary bladder Hypertrofie močového měchýře OFFICIAL en cs HP:0008636 rdfs:label Lobular glomerulopathy Lobulární glomerulopatie OFFICIAL en cs HP:0008765 IAO:0000115 The false perception of sound Falešný vjem zvuku CANDIDATE en cs HP:0008765 rdfs:label Auditory hallucinations Sluchové halucinace OFFICIAL @@ -232,17 +266,24 @@ en cs HP:0008830 rdfs:label Hypoplastic pubic rami Hypoplastická ramena stydké en cs HP:0009380 IAO:0000115 Aplasia of one or more fingers Aplazie jednoho nebo více prstů na ruce OFFICIAL en cs HP:0009380 rdfs:label Aplasia of the fingers Aplazie prstů na ruce OFFICIAL en cs HP:0009591 IAO:0000115 Abnormality of the vestibulocochlear nerve, the eighth cranial nerve, which is involved in transmitting sound and equilibrium information from the inner ear to the brain Abnormalita vestibulokochleárního nervu, osmého hlavového nervu, který se podílí na přenosu zvuku a informací o rovnováze z vnitřního ucha do mozku OFFICIAL +en cs HP:0009595 rdfs:label Occasional neurofibromas Náhodné neurofibromy (mimo neurofibromatózu) OFFICIAL en cs HP:0009600 IAO:0000115 Chronic loss of joint motion in the thumb due to structural changes in non-bony tissue. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected Chronická ztráta pohyblivosti palce v důsledku strukturálních změn v nekostních/měkkých tkáních. Termín kamptodaktylie se používá pokud jsou postiženy distální nebo proximální interfalangeální klouby OFFICIAL en cs HP:0009600 rdfs:label Flexion contracture of thumb Flekční kontraktura palce na ruce OFFICIAL en cs HP:0009624 rdfs:label Contractures of the carpometacarpal joint of the thumb Kontraktury karpometakarpálního kloubu palce na ruce OFFICIAL en cs HP:0009625 rdfs:label Contractures of the metacarpophalangeal joint of the thumb Kontraktury metakarpofalangeálního kloubu palce OFFICIAL en cs HP:0009626 rdfs:label Contractures of the interphalangeal joint of the thumb Kontraktury interfalangeálného kloubu palce OFFICIAL +en cs HP:0009727 IAO:0000115 Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina Oblasti sítnice bez pigmentace. Vypíchnuté oblasti chorioretinální hypopigmentace o velikosti menší než 1 průměr disku, které se nacházejí spíše ve střední části sítnice. OFFICIAL en cs HP:0009728 IAO:0000115 A benign or malignant neoplasm (tumour) originating in striated muscle, either skeletal muscle or cardiac muscle Nezhoubný nebo zhoubný novotvar (nádor) pocházející z příčně pruhovaného svalu, buď kosterního svalu nebo srdečního svalu OFFICIAL en cs HP:0009735 IAO:0000115 Neurofibromas originating in the spine Nerofibromy lokalizované v oblasti páteře OFFICIAL en cs HP:0009735 rdfs:label Spinal neurofibromas Spinální neurofibromy OFFICIAL en cs HP:0009804 IAO:0000115 The absence of one or more teeth from the normal series by a failurento develop Přítomnost menšího počtu zubů jako u hypodoncie či anodoncie CANDIDATE +en cs HP:0009922 IAO:0000115 Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth Může přetrvávat hyaloidní tepna, což je embryonální tepna, která vede od disku zrakového nervu k zadnímu pouzdru čočky; místo úponu může tvořit zákal. Hyaloidní tepna je větví oftalmické tepny a obvykle zcela regreduje před narozením. OFFICIAL +en cs HP:0009922 rdfs:label Vascular remnant arising from the disc Cévní zbytek vycházející z disku OFFICIAL en cs HP:0010160 rdfs:label Abnormality of the epiphyses of the toes Abnormalita epifýz prstů na noze OFFICIAL en cs HP:0010161 rdfs:label Abnormality of the phalanges of the toes Abnormalita falang prstů na noze OFFICIAL +en cs HP:0010223 IAO:0000115 The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present Normální epifýza třetí metakarpální kosti je umístněná jejim distálním konci. Tento termín se použije v případě přítomnosti akcesorní epifýzy, která je umístněná na proximálním konci matakarpální kosti OFFICIAL +en cs HP:0010225 IAO:0000115 The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present Normální epifýza čtvrté metakarpální kosti je umístněná jejim distálním konci. Tento termín se použije v případě přítomnosti akcesorní epifýzy, která je umístněná na proximálním konci matakarpální kosti OFFICIAL +en cs HP:0010227 IAO:0000115 The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present Normální epifýza páté metakarpální kosti je umístněná jejim distálním konci. Tento termín se použije v případě přítomnosti akcesorní epifýzy, která je umístněná na proximálním konci matakarpální kosti OFFICIAL en cs HP:0010289 IAO:0000115 A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth Rozštěp (mezera, cleft) postihující alveolární výběžky maxilly, tj. vyvíšené části kosti obsahující lůžka zubů. Alveolární cleft může postihnout všechny struktury alveolárního výběžku - dáseň, sliznici, periost, kost i zub. OFFICIAL en cs HP:0010289 rdfs:label Cleft of alveolar ridge of maxilla Rozštěp horního alveolárního oblouku OFFICIAL en cs HP:0010300 IAO:0000115 An abnormally low-pitched voice Nadměrně nízce posazený hlas OFFICIAL @@ -260,13 +301,18 @@ en cs HP:0010535 IAO:0000115 An intermittent cessation of airflow at the mouth a en cs HP:0010536 IAO:0000115 Sleep apnea resulting from a transient abolition of the central drive to the ventilatory muscles Spánková apnoe v důsledku přechodného selhání centrálního řízení dýchacích svalů OFFICIAL en cs HP:0010569 IAO:0000115 Elevated 7-dehydrocholesterol levels Zvýšené hladiny 7-dehydrocholesterolu OFFICIAL en cs HP:0010569 rdfs:label Elevated 7-dehydrocholesterol Zvýšený 7-dehydrocholesterol OFFICIAL +en cs HP:0010587 rdfs:label Triangular epiphyses Trojúhleníkové epifýzy OFFICIAL en cs HP:0010593 rdfs:label Abnormality of fibular epiphyses Abnormalita epifýz fibuly OFFICIAL +en cs HP:0010603 IAO:0000115 A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour Bengní, jedno či vícecystický intraoseální tumor odontogenního původu, s charakteristickým lemem parakeratinizovaného dlaždicového epitelu a s potenciálem k agresivnímu, infiltrativnímu růstu. OFFICIAL en cs HP:0010609 IAO:0000115 Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumours that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region Kožní výrůstky (skin tag, acrochordon či fibroepiteliální polyp) jsou malé, benigní tumorky které se buďto utvorí sekundárně časem v oblastech kožních rýh, jako krk, podpaží či inguinální krajina, nebo můžou být přítomny od narození, obvykle v periaurikulární krajině. OFFICIAL en cs HP:0010630 rdfs:label Abnormality of metatarsal epiphysis Abnormalita epifýzy matatarzální kosti OFFICIAL +en cs HP:0010640 rdfs:label Abnormality of the nasal cavity Abnormalita nosní dutiny OFFICIAL en cs HP:0010663 rdfs:label Abnormality of thalamus morphology Abnormalita morfologie thalamu OFFICIAL en cs HP:0010674 rdfs:label Abnormality of the curvature of the vertebral column Abnormalita zahnutí páteře OFFICIAL +en cs HP:0010733 IAO:0000115 Naevus flammeus localised in the skin of the eyelid Nevus flammeus lokalizovaný na kůži víčka OFFICIAL en cs HP:0010762 IAO:0000115 A chordoma is a tumors that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis Chordom je nádor vznikající ze zbytků embryonální tkáně chorda dorsalis (notochord) podél osy centální nervové soustavy. Chordomy se obecně vyskytují v sakrální oblasti, intrakraniálně v oblasti clivus nebo podél páteře. OFFICIAL en cs HP:0010790 rdfs:label Hyoplasia of the Leydig cells Hypoplázie Leydigových buněk OFFICIAL +en cs HP:0010818 IAO:0000115 A generalized tonic seizure is a type of generalized motor seizure characterised by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities Generalizovaný tonický záchvat je typ generalizovaného motorického záchvatu charakterizovaného oboustranným ztuhnutím nebo elevací končetin, často se ztuhnutím krku bez následné klonické fáze. Tonická aktivita může mít podobu trvalé abnormální polohy, a to buď v extenzi, nebo ve flexi, někdy doprovázené třesem končetin OFFICIAL en cs HP:0010824 IAO:0000115 Any structural abormality of the fifth cranial nerve Jakákoli strukturální abormalita pátého hlavového nervu OFFICIAL en cs HP:0010827 rdfs:label Abnormality of the seventh cranial nerve Abnormalita sedmého hlavového nervu OFFICIAL en cs HP:0010865 IAO:0000115 An enduring pattern of uncooperative, defiant, and hostile behavior toward authority figures that does not involve major antisocial violations, is not accounted for by the child's developmental stage, and results in significant functional impairment. A certain level of oppositional behavior is common in children and adolescents Trvalý vzorec nespolupracujícího, vzdorovitého a nepřátelského chování vůči autoritám, do kterého nepatří závažné antisociální chování, není na vrub vývojové fázi dítěte a vede k významnému funkčnímu poškození. U dětí a dospívajících je běžná určitá míra opozičního chování. OFFICIAL @@ -277,14 +323,30 @@ en cs HP:0010982 IAO:0000115 A type of multifactorial inheritance governed by th en cs HP:0011021 rdfs:label Abnormality of circulating enzyme level Abnormální hladina cirkulujícího enzymu OFFICIAL en cs HP:0011071 rdfs:label Abnormality of permanent molar morphology Abnormalita morfologie trvalých molárů OFFICIAL en cs HP:0011111 rdfs:label Abnormality of immune serum protein physiology Abnormalita fyziologie proteinů imunitního séra OFFICIAL +en cs HP:0011112 rdfs:label Abnormality of serum cytokine level Abnormalita hladiny sérových cytokinů OFFICIAL +en cs HP:0011115 rdfs:label Abnormality of chemokine secretion Abnormalita v sekreci chemokinu OFFICIAL +en cs HP:0011116 IAO:0000115 An abnormality in the production or cellular release of interferons (a class of cytokines) Abnormální produkce nebo uvolňování interferonů (skupina cytokinů) v buňkách OFFICIAL +en cs HP:0011116 rdfs:label Abnormality of interferon secretion Abnormalita v sekreci interferonu OFFICIAL +en cs HP:0011117 IAO:0000115 An abnormality in the production or cellular release of interleukins (a class of cytokines) Abnormální produkce nebo uvolňování interleukinů (skupina cytokinů) v buňkách OFFICIAL +en cs HP:0011117 rdfs:label Abnormality of interleukin secretion Abnormalita sekrece interleukinu OFFICIAL en cs HP:0011121 rdfs:label Abnormality of skin morphology Abnormalita morfologie kůže OFFICIAL en cs HP:0011138 rdfs:label Abnormality of skin adnexa morphology Abnormality morfologie kožních adnex OFFICIAL +en cs HP:0011146 IAO:0000115 A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event Dialeptický záchvat je typ záchvatu charakterizovaný převážně sníženou reaktivitou nebo poruchou vědomí s následnou alespoň částečnou amnézií na událost. CANDIDATE +en cs HP:0011147 IAO:0000115 A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event Fokální motorické záchvaty CANDIDATE +en cs HP:0011149 IAO:0000115 An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterised by forced upward jerking of the eyelids during an absence seizure Absenční záchvaty doprovázené krátkými, opakujícími se, často rytmickými, rychlými (4-6 Hz) myoklonickými záškuby očních víček se současným vychýlením očních bulbů nahoru a extenzí hlavy. Záchvaty jsou obvykle velmi krátké (trvání méně než 6 sekund) a vícenásobné záchvaty se vyskytují denně. Vědomí je většinou zachováno. CANDIDATE +en cs HP:0011150 IAO:0000115 Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterised by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017 Rytmické myoklonické záškuby ramen a paží s tonickou abdukcí, které vedou k postupnému zvedání paží během záchvatu. Myoklonické záškuby jsou typicky oboustranné, ale mohou být i jednostranné nebo asymetrické. Periorální myoklonie a rytmické záškuby hlavy se mohou rovněž objevit. Křeče trvají 10-60 a typicky se objevují denně (ve dne?). Křeče doprovází porucha pozornosti různé závažnosti od kompletní ztráty po zachovanou pozornost CANDIDATE +en cs HP:0011159 IAO:0000115 A type of focal autonomic seizure characterised by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature Aury s břišním diskomfortem včetně evolnosti, pocitu prázdnoty, těsnosti, kručení, motýlů v břiše, malátnosti, bolesti a hladu, pocit se může propagovat do hrudníku nebo hrdla. Některé jevy mohou odrážet iktální autonomní dysfunkci CANDIDATE +en cs HP:0011165 IAO:0000115 A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation Aury s pocitem blikání nebo blikajících světel, skvrn, jednoduchých vzorů, skotomů nebo amaurózy CANDIDATE +en cs HP:0011169 IAO:0000115 Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups Záchvaty s pravidelně se opakujícím myoklonusem, zahrnujícím stejné svalové skupiny, s frekvencí asi 2-3 c/sec. CANDIDATE +en cs HP:0011175 IAO:0000115 A type of focal motor seizure characterised by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation Tonické záchvaty s trvalou, nuceně konjugovanou rotací oka, hlavy a/nebo trupu nebo laterální odchylkou od střední linie. CANDIDATE en cs HP:0011278 rdfs:label Intrapulmonary sequestration Intrapulmonární sekvestrace OFFICIAL en cs HP:0011340 IAO:0000115 A subtle unilateral cleft of the upper lip, which may appear as a small indentation Jemný jednostranný rozštěp horního rtu, který se může jevit jako jako malý zářez OFFICIAL +en cs HP:0011359 IAO:0000115 Hair that lacks the lustre (shine or gleam) of normal hair Vlasy, které postrádají lesk normálních vlasů. OFFICIAL en cs HP:0011376 rdfs:label Morphological abnormality of the vestibule of the inner ear Morfologická abnormalita vestibula vnitřního ucha OFFICIAL en cs HP:0011380 rdfs:label Morphological abnormality of the semicircular canal Morfologická abnormita polokruhovitého kanálku OFFICIAL en cs HP:0011390 rdfs:label Morphological abnormality of the inner ear Morfologická abnormalita vnitřního ucha OFFICIAL en cs HP:0011391 rdfs:label Morphological abnormality of the nerves of the inner ear Morfologická abnormalita nervů vnitřního ucha OFFICIAL +en cs HP:0011412 IAO:0000115 Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately Porod novorozence pomocí vakuové pumpy, která se používá k asistovanému porodu v případě, že druhá doba porodní dostatečně nepostupuje. OFFICIAL en cs HP:0011432 rdfs:label High maternal circulating alpha-fetoprotein concentration Vysoká koncentrace cirkulujícího maternálního alfa-fetoproteinu OFFICIAL en cs HP:0011446 rdfs:label Abnormality of higher mental function Abnormalita vyšších mozkových funkcí OFFICIAL en cs HP:0011472 rdfs:label Abnormality of small intestinal villus morphology Abnormalita morfologie klků tenkého střeva OFFICIAL @@ -299,20 +361,24 @@ en cs HP:0011752 IAO:0000115 The presence of a neoplasm (tumour) in the neurohyp en cs HP:0011766 rdfs:label Abnormality of the parathyroid morphology Abnormalita morfologie příštítných tělísek OFFICIAL en cs HP:0011814 IAO:0000115 An increased level of hypoxanthine in the urine Zvýšená hladina hypoxantinu v moči. OFFICIAL en cs HP:0011814 rdfs:label Increased urinary hypoxanthine Zvýšený hypoxantin v moči OFFICIAL +en cs HP:0011891 IAO:0000115 Significant maternal haemorrhage/blood loss following deilvery of a child Významné krvácení či krevní ztárta u matky po porodu OFFICIAL en cs HP:0011892 IAO:0000115 A reduced concentration of vitamin K Snížená koncentrace vitaminu K CANDIDATE en cs HP:0011892 rdfs:label Low levels of vitamin K Nízká hladina vitaminu K OFFICIAL en cs HP:0011942 IAO:0000115 Increased concentration of SO3(2-), i.e., sulfite, in the urine Zvýšená koncentrace SO3(2-), tj. siřičitanů v moči. OFFICIAL en cs HP:0011942 rdfs:label Increased urinary sulfite Zvýšení sulfitu v moči OFFICIAL +en cs HP:0011956 IAO:0000115 A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine Lymfoproliferativní abnormalita střeva charakterizovaná četnými viditelnými slizničními uzlíky o průměru do 0,5 cm a zřídka přesahujícími tento průměr. Histologicky jsou v lamina propria a povrchové submukóze patrné hyperplastické lymfoidní folikuly s velkými zárodečnými centry. Dochází ke zvětšení slizničních B-buněčných folikulů způsobenému hyperplázií folikulárních center. Jsou obklopeny normálně vypadající plášťovou zónou. Onemocnění může postihnout žaludek, celé tenké střevo a tlusté střevo. OFFICIAL en cs HP:0011976 IAO:0000115 An increased concentration of catecholamine in the urine Zvýšená koncentrace katecholaminů v moči OFFICIAL en cs HP:0011976 rdfs:label Elevated urinary catecholamines Zvýšená koncentrace katecholaminů v moči OFFICIAL en cs HP:0011979 IAO:0000115 An increased concentration of dopamine in the urine Zvýšená koncentrace dopaminu v moči OFFICIAL en cs HP:0011979 rdfs:label Elevated urinary dopamine Zvýšená hladina dopaminu v moči OFFICIAL en cs HP:0011992 rdfs:label Abnormality of neutrophil morphology Abnormalita morfologie neutrofilů OFFICIAL en cs HP:0011999 IAO:0000115 A persecutory delusion of supposed hostility of others Perzekuční klam z domnělého nepřátelství druhých. OFFICIAL +en cs HP:0012060 IAO:0000115 A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed Typ kožního melanomu lokalizovaného na dlani, chodidle nebo pod nehtem (subungvální melanom). Akrální lentiginózní melanom začíná jako pomalu se zvětšující plochá skvrna odbarvené kůže a obvykle vykazuje velikost nad 6 mm a často několik centimetrů nebo více v průměru po diagnóze a variabilní pigmentaci se směsí barev včetně hnědé, modrošedé, černé a červené. Povrch léze je zpočátku hladký, ale později se může stát silnější a nepravidelný a může ulcerovat nebo krvácet OFFICIAL en cs HP:0012071 IAO:0000115 Any deviation from the normal concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine Jakákoli odchylka od normální koncentrace acetylkarnitinu v krevním oběhu, který vzniká reverzibilní esterifikací 3-hydroxylové skupiny karnitinu OFFICIAL en cs HP:0012071 rdfs:label Abnormal circulating acetylcarnitine concentration Abnormální koncentrace cirkulujícího acetylkarnitin OFFICIAL en cs HP:0012075 IAO:0000115 An abnormality of mental functioning affecting the personality and behavioural tendencies of an individual and characterized by a rigid and unhealthy pattern of thinking and behavior. The definition of a personal disorder implies that the abnormality is not the result of damage or insult to the brain or from another psychiatric disorder Abnormalita duševního fungování ovlivňující osobnost a tendence v chování jedince a charakterizovaná strnulým a nezdravým vzorcem myšlení a chování. Definice osobní poruchy znamená, že abnormalita není výsledkem poškození nebo poranění mozku nebo jiné psychiatrické poruchy. OFFICIAL en cs HP:0012076 IAO:0000115 A personality disorder characterized by impulsive behavior and unpredictable and capricious mood. Affected individuals show a liability to outbursts of emotion and an incapacity to control the behavioural explosions Porucha osobnosti charakterizovaná impulzivním chováním a nepředvídatelnou a rozmarnou náladou. Postižení jedinci vykazují náchylnost k výbuchům emocí a neschopnost kontrolovat výbuchy chování. OFFICIAL +en cs HP:0012128 IAO:0000115 Death of cells in the basal ganglia Odúmrtí buněk bazálních ganglií OFFICIAL en cs HP:0012154 IAO:0000115 Inability to experience pleasure activities usually found enjoyable Neschopnost prožívat kladné emoce a city, neschopnost těšit se z příjemností, neschopnost radovat se OFFICIAL en cs HP:0012171 IAO:0000115 Habitual clasping and squeezing of the hands Habituální svírání a mačkání rukou OFFICIAL en cs HP:0012172 IAO:0000115 Habitual repetitive movement of the body Habiruální opakující se pohyb těla OFFICIAL @@ -328,8 +394,12 @@ en cs HP:0012400 rdfs:label Abnormal aldolase level Abnormální hladina aldolá en cs HP:0012434 rdfs:label Delayed social development Opožděný sociální vývoj OFFICIAL en cs HP:0012443 rdfs:label Abnormality of brain morphology Abnormalita morfologie mozku OFFICIAL en cs HP:0012452 IAO:0000115 A feeling of uneasiness and restlessness in the legs after going to bed (sometimes causing insomnia) Pocit neklidu a těžkosti v nohách po ulehnutí do postele (někdy způsobující nespavost) OFFICIAL +en cs HP:0012490 IAO:0000115 Inflammation of adipose tissue Zánět tukové tkáně OFFICIAL en cs HP:0012503 rdfs:label Abnormality of the pituitary gland Abnormalita hypofýzy OFFICIAL +en cs HP:0012517 IAO:0000115 An abnormally decreased amount of catalase level Abnormálně snížené množství hladiny katalázy OFFICIAL +en cs HP:0012517 rdfs:label Reduced catalase level Snížená hladina katalázy OFFICIAL en cs HP:0012519 IAO:0000115 Underdeveloped posterior communicating artery Hypoplastické zadní komunikující tepny OFFICIAL +en cs HP:0012526 IAO:0000115 A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears Nedostatek alfa granulí krevních destiček. To obvykle vede k šedému vzhledu krevních destiček v krevních nátěrech obarvených giemsou. OFFICIAL en cs HP:0012544 IAO:0000115 An increased concentration of fructose 1,6-bisphosphate aldolase in the serum Zvýšená koncentrace fruktóza-1,6-bisfosfát aldolázy v séru OFFICIAL en cs HP:0012544 rdfs:label Elevated aldolase level Zvýšená úroveň aldolázy OFFICIAL en cs HP:0012545 IAO:0000115 An decreased concentration of fructose 1,6-bisphosphate aldolase in the serum Snížená koncentrace fruktóza-1,6-bisfosfát aldolázy v séru​ OFFICIAL @@ -338,16 +408,22 @@ en cs HP:0012671 IAO:0000115 Poverty of behavior and speech output, lack of init en cs HP:0012718 rdfs:label Morphological abnormality of the gastrointestinal tract Morfologická abnormalita gastrointestinálního traktu OFFICIAL en cs HP:0012760 IAO:0000115 A reduced ability to participate in the back and forth flow of social interaction, which is normally characterized by an influence of the behavior of one person on the behavior of another person who is in conversation with the first Snížená schopnost účastnit se obousměrné sociální interakce, která je obvykle charakterizována vlivem chování jedné osoby na chování druhé osoby, která spolu hovoří. OFFICIAL en cs HP:0012760 rdfs:label Impaired social reciprocity Narušená sociální reciprocita OFFICIAL +en cs HP:0012796 IAO:0000115 An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells Zvýšení poměru průměru pohárku očního disku k celkovému průměru disku. Disk zrakového nervu má oranžově růžový okraj se světlým středem (pohárek), který neobsahuje neuroretinální tkáň. Zvýšení tohoto poměru může znamenat snížení množství zdravých neuroretinálních buněk. OFFICIAL en cs HP:0012844 IAO:0000115 A benign tumour originating from the outer root sheath of the hair follicle Nezhoubný nádor vycházející z vnější kořenové pochvy vlasového folikulu OFFICIAL en cs HP:0012845 IAO:0000115 Presence of a unitary trichilemmoma, a benign tumour originating from the outer root sheath of the hair follicle Přítomnost jediného trichilemomu, benigního nádoru pocházejícího z vnější kořenové pochvy vlasového folikulu OFFICIAL en cs HP:0012846 IAO:0000115 Presence of multiple trichilemmomata, a benign tumour originating from the outer root sheath of the hair follicle Přítomnost mnohočetných trichilemomů, benigních nádorů pocházejících z vnější kořenové pochvy vlasového folikulu OFFICIAL +en cs HP:0020042 IAO:0000115 An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye Abnormalní pohyb očí charakterizovaný současnou slabostí musculus rectus inferior a musculus obliquus superior téhož oka. OFFICIAL +en cs HP:0020063 rdfs:label Increased hemoglobin concentration Zvýšená koncentrace hemoglobinu OFFICIAL en cs HP:0020075 IAO:0000115 The presence of leuucine crystals in the urine Přítomnost leucinových krystalů v moči CANDIDATE en cs HP:0020090 IAO:0000115 Infection with live attenuated polio vaccine following vaccination. This is an extreemely rare event that may indicate immunocompromise Infekce živou oslabenou vakcínou proti dětské obrně po očkování. Jedná se o velmi vzácnou příhodu, která může svědčit o oslabení imunity. CANDIDATE +en cs HP:0020102 IAO:0000115 An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnoea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing Oportunní onemocnění způsobené invazí jednobuněčné houby Pneumocystis jirovecii. K přenosu cyst P. jirovecii dochází vzdušnou cestou a její přítomnost v plicích je obvykle asymptomatická. Lidé s oslabenou imunitou, zejména ti s počtem CD4+ T buněk nižším než 200/mikrolitr, jsou však stále ohroženi vznikem pneumocystové pneumonie v důsledku invaze P. jirovecii. Příznaky vyvolané tímto onemocněním nejsou specifické: progresivní dušnost, neproduktivní kašel, nízká horečka, arteriální parciální tlak kyslíku pod 65 mmHg a oboustranné zastínení intersticia na rentgenových snímcích plic. CANDIDATE en cs HP:0020127 IAO:0000115 A lump detected in the region that surrounds a joiny. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction Bulka nalezená v oblasti blízko kloubu. V tomto kontextu je masa obecný termín pro bulku nebo výrůstek, který může být způsoben abnormálním růstem buněk, cystou, hormonálními změnami nebo imunitní reakcí CANDIDATE en cs HP:0020150 IAO:0000115 An increased amount of uromodulin (also known as Tamm Horsfall protein) in the urine Zvýšené množství uromodulinu (také známý jako Tamm Horsfallův protein) v moči CANDIDATE en cs HP:0020150 rdfs:label Elevated urinary uromodulin Zvýšený uromodulin v moči CANDIDATE en cs HP:0020152 rdfs:label Distal joint laxity Laxita distálního kloubu CANDIDATE en cs HP:0020169 IAO:0000115 An anomlous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy Anomální reakce na lék související s individuálními rozdíly v metabolické nebo imunitní odpovědi na léky, které se liší od potenciálně život ohrožujících nežádoucích účinků léku až po změnu terapeutické účinnosti. CANDIDATE +en cs HP:0020175 IAO:0000115 A decreased amount of cholinesterase in the blood circulation Snížené množství cholinesterázy v krevním oběhu. CANDIDATE +en cs HP:0020175 rdfs:label Reduced cholinesterase level Snížená hladina cholinesterázy CANDIDATE en cs HP:0020179 rdfs:label Abnormal haptoglobin level Abnormální hladina haptoglobinu CANDIDATE en cs HP:0020182 rdfs:label Abnormal A-type atrial natriuretic peptide level Abnormální hladina atriálního natriuretického peptidu typu A CANDIDATE en cs HP:0020183 rdfs:label Increased circulating A-type natriuretic peptide level Zvýšená hladina cirkulujícího natriuretického peptidu typu A CANDIDATE @@ -356,6 +432,10 @@ en cs HP:0020188 IAO:0000115 Pachygyria with cortical thickness between 5 and 10 en cs HP:0020189 IAO:0000115 Pachygyria with cortical thickness above 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria Pachygyrie s kortikální tloušťkou nad 10 mm a s převažujícím posteriorním gradientem. Gradient závažnosti se určuje na základě šířky gyrů, přičemž gyry jsou obvykle širší než 5 mm v těžce postižených oblastech. Posteriorní predominantní gradient označuje pachygyrii závažnější jiné okcipitální laloky, ale zahrnuje také vzácnou perisylviální predominantní pachygyrii a temporální predominantní pachygyrii. CANDIDATE en cs HP:0020191 IAO:0000115 Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes Pachygyrie s kortikální tloušťkou větší než 10 mm a převažujícím předním gradientem závažnosti. Gradient závažnosti se určuje na základě šířky gyrů, přičemž gyry jsou obvykle širší než 5 mm v těžce postižených oblastech. Přední převažující gradient označuje pachygyrii závažnější nad frontálními a temporálními laloky. CANDIDATE en cs HP:0020192 IAO:0000115 Pachygyria with a mildly thickend cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age Pachygyrie s mírně ztluštělou mozkovou kůrou 5-10 mm. Tloušťku mozkové kůry nelze spolehlivě změřit na snímcích provedených mezi 3. a 24. měsícem věku. CANDIDATE +en cs HP:0020201 IAO:0000115 Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs Jakákoli strukturální vada sarkomery, jež je základní jednotkou myofibril ve svalové buňce, obsahuje překrývající se tlustá a tenká vlákna mezi dvěma sousedními Z disky CANDIDATE +en cs HP:0020202 IAO:0000115 Any structural anomaly of the Z disc, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached Jakákoli strukturální vada Z-disku, což je deskovitá oblast sarkomery, ve které jsou ukotveny +konce aktinových vláken CANDIDATE +en cs HP:0020202 rdfs:label Abnormal Z disc morphology Abnormální morfologie Z-disku CANDIDATE +en cs HP:0020203 IAO:0000115 Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disc may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change Rozšíření či natažení z-disku, který pak již není omezen na úzkou zónu, která protíná I proužek. Z-disk se může klikatě táhnout napříč I proužkem nebo celou sarkomerou. Současně dochází k ohniskovému zesílení a roztažení z-disku. Myofibrilární dezorganizace je častou, ale ne neměnnou doprovodnou změnou CANDIDATE en cs HP:0020215 IAO:0000115 Seizures induced by thinking and decision-making.ncomment: Záchvat vyvolaný přemýšlením a/nebo rozhodováním CANDIDATE en cs HP:0020222 IAO:0000115 A decreased concentration of homocystine in the blood Snížená koncentrace homocysteinu v krvi CANDIDATE en cs HP:0025028 rdfs:label Abnormality of enteric nervous system morphology Abnormální morfologie střevního nervového systému OFFICIAL @@ -363,6 +443,7 @@ en cs HP:0025029 rdfs:label Abnormality of enteric neuron morphology Abnormalita en cs HP:0025033 rdfs:label Abnormality of digestive system morphology Abnormalita morfologie trávicí soustavy OFFICIAL en cs HP:0025057 rdfs:label Abnormality of olfactory lobe morphology Abnormalita morfologie čichového laloku OFFICIAL en cs HP:0025072 IAO:0000115 Increased amplitude of the U wave, defined as an amplitude grerater than 1-2mm or 25 percent of the height of the T wave Zvýšená amplituda U vlny, definovaná jako amplituda větší než 1-2 mm nebo 25 % výšky T vlny OFFICIAL +en cs HP:0025105 IAO:0000115 A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anaemic spots Naevus anemicus je kožní léze charakterizovaná nepravidelnými hypopigmentovanými makulami které splývají do plaků a vyskytují se primárně na hrudníku. Obvykle se vyskytuje při narození nebo se vyvíjí v prvních dnech života. Je častější u žen. Diagnóza je potvrzena aplikací jemného tření na lézi a okolní kůži a kontrolou, zda se erytém produkovaný na zdravé kůži neobjevuje v hypopigmentované lézi. Tato bledá makula se stává nápadnější, když se léze a její okolí třou. Okraj naevu je špatně ohraničený a skládá se ze souostroví malých anemických skvrn. CANDIDATE en cs HP:0025112 rdfs:label Sound sensitivity Citlivost na zvuk OFFICIAL en cs HP:0025113 IAO:0000115 An adverse response (dislike) to sound no matter what volume the sound is, characterized by a strong negative reaction to soft sounds that can sometimes be further triggered by seeing the source of the offending sound Špatná (negativní) reakce na zvuk bez ohledu na hlasitost zvuku charakterizováno silnou negativní reakcí na mírné zvuky, která může být někdy dále vyvolána pohledem na zdroj nežádoucího zvuku OFFICIAL en cs HP:0025160 IAO:0000115 A temper tantrum is an emotional outburst usually triggered by a sense of frustration and manifested as whining and crying, screaming, kicking, hitting, and breath holding. Temper tantrums are normal in toddlers and young children and usually happen between the ages of one to three years. Temper tantrums may be considered abnormal if they occur at an unusually high frequency, are of unusual severity, or occur at an old age than usual Výbuch vzteku je emocionální výbuch obvykle vyvolaný pocitem frustrace a projevující se jako fňukání a pláč, křik, kopáni, udírání a zadržování dechu. Výbuchy vzteku jsou normální u batolat and mladších dětí a obvykle se vyskytují ve věku jednoho až tří let. Výbuchy vzteku můžou být považovány za abnormální, pokud se vyskytují neobvykle často, jsou neobvykle silné, nebo se vyskytují ve vyšším věku než je obvyklé OFFICIAL @@ -371,6 +452,8 @@ en cs HP:0025162 IAO:0000115 Temper tantrums whose severity is more severe than en cs HP:0025163 rdfs:label Abnormality of optic chiasm morphology Abnormalita morfologie optického chiasmatu OFFICIAL en cs HP:0025171 IAO:0000115 A tumor of the central nervous system that has components of both neurocytic and glial areas, whereby usually the glial component of the tumour predominates. Rossette-forming glioneuronal tumors (RGNT) have biphasic cytoarchitecture with two elements; neurocytic rosettes resembling Homer-Wright rosettes, and astrocytic component resembling a pilocytic astrocytoma. RGNTs are low-grade tumors that lack histopathological signs of malignancy Nádor centrálního nervového systému, který má složky neurocytární i gliové, přičemž obvykle převažuje gliová složka nádoru. Růžice tvořící glioneuronální tumory (RGNT) mají bifázickou cytoarchitekturu se dvěma elementy; neurocytické rozety připomínající Homer-Wrightovy rozety a astrocytární složka připomínající pilocytární astrocytom. RGNT jsou nádory nízkého stupně, které postrádají histopatologické známky malignity OFFICIAL en cs HP:0025179 IAO:0000115 On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within whichnmargins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured Popisný termín, který se používá pro zobrazování výpočetnou tomografií a který se týká rozmazané oblasti zvýšeného útlumu v plicích se zachovanými bronchiálními a cévními znaky CANDIDATE +en cs HP:0025186 IAO:0000115 Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing Jednostranná ptóza s přidruženou kontrakcí horního víčka a kontrakcí vnějšího nebo vnitřního musculus pterygoideus. Předpokládá se, že k němu dochází v důsledku vrozeného špatného zapojení větve pátého hlavového nervu do větve třetího hlavového nervu zásobujícího musculus levator. U Marcuse Gunn syndromu je elevace a dokonce retrakce postiženého víčka spuštěna žvýkáním, sáním, bočním pohybem dolní čelisti, úsměvem, kontrakcí musculus sternocleidomastoideus, vyplazeným jazykem, Valsalvovým manévrem a dokonce i dýcháním. OFFICIAL +en cs HP:0025190 IAO:0000115 A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterised by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure Bilaterální tonicko-klonický záchvat s generalizovaným nástupem je typ bilaterálního tonicko-klonického záchvatu, který se vyznačuje generalizovaným nástupem; tyto záchvaty na začátku záchvatu rychle zahrnují obě hemisféry. CANDIDATE en cs HP:0025233 IAO:0000115 An inability to move the body at sleep onset or upon awakening from sleep lasting seconds to a few minutes Neschopnost pohnout tělem na začátku spánku nebo po probuzení ze spánku trvající několik sekund až několik minut OFFICIAL en cs HP:0025234 IAO:0000115 An undesirable physical event or experience that occurs during entry into sleep, during sleep, or during arousal from sleep Nežádoucí fyzická událost nebo zážitek, ke kterému dochází při vstupu do spánku, během spánku nebo při probuzení ze spánku CANDIDATE en cs HP:0025235 IAO:0000115 A parasomnia that occurs in non-rapid eye movement (NREM) sleep. This refers to a disorder of arousal that occurs during slow-wave sleep (ie, NREM stage 3 sleep) Parasomnie se vyskytují v non-rapid eye movement (NREM) fázi spánku. Jedná se o poruchu dráždivosti během spánku pomalých vln (slow-wave sleep, např. NREM fáze 3). OFFICIAL @@ -384,6 +467,9 @@ en cs HP:0025269 IAO:0000115 A sudden episode of intense fear in a situation in en cs HP:0025319 rdfs:label Rubeosis iridis Rubeóza duhovky OFFICIAL en cs HP:0025361 rdfs:label Abnormality of medullary pyramid morphology Morfologická abnormalita dřenových pyramid ledviny OFFICIAL en cs HP:0025372 IAO:0000115 Particularly loud snoring, snoring at high volume Zvláště hlasité chrápání OFFICIAL +en cs HP:0025389 IAO:0000115 High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities Výpočetní tomografie s vysokým prostorovým rozlišením (HRCT) může rozlišit nálezy, které charakterizují intersticiální plicní onemocnění způsobem, který není možný s jinými modalitami OFFICIAL +en cs HP:0025390 IAO:0000115 On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh Nález na výpočetní tomografii s vysokým prostorovým rozlišením (HRCT) plic, konkrétně retikulární změna typická nespočetnými vzájemně se proplétající stíny připomínající síť OFFICIAL +en cs HP:0025392 IAO:0000115 A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter Nodulární změny na výpočetné tomografii s vysokým rozlišením (HRCT) plic se vyznačuje přítomností četných zaoblených opacit, které jsou od 2 mm do 1 cm v průměru, v případě mikronodulů je nález definován průmerem menším než 3 mm. OFFICIAL en cs HP:0025428 rdfs:label Bronchospasm Bronchospasmus OFFICIAL en cs HP:0025434 rdfs:label Reduced hemolytic complement activity Snížená hemolytická aktivita komplementu OFFICIAL en cs HP:0025437 rdfs:label Macrocephalic sperm head Makrocefalická spermie OFFICIAL @@ -392,11 +478,19 @@ en cs HP:0025483 rdfs:label Abnormal circulating thyroglobulin level Abnormáln en cs HP:0025484 rdfs:label Increased circulating thyroglobulin level Zvýšená hladina cirkulujícího thyreoglobulinu OFFICIAL en cs HP:0025485 IAO:0000115 Vaginal adenosis is defined by the presence of metaplastic cervical or endometrial epithelium within the vaginal wall, thought to be derived from persistent Müllerian (synonymous with paramesonephric) epithelium islets in postembryonic life Vaginální adenóza je definována přítomností metaplastického epitelu děložního hrdla nebo endometria ve stěně pochvy, o němž se předpokládá, že pochází z perzistujících ostrůvků Müllerova (synonymum pro paramesonefrický) epitelu v postembryonálním životě. OFFICIAL en cs HP:0025487 rdfs:label Abnormality of bladder morphology Abnormality morfologie močového měchýře OFFICIAL +en cs HP:0025531 IAO:0000115 The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body Harlekýnský fenomén spočívá v náhlé změně barvy kůže, která má za následek dvě různé barvy těla, jednu na každé polovině těla. OFFICIAL en cs HP:0025550 IAO:0000115 An increase above the normal concentration of ribitol in the blood Zvýšení koncentrace ribitolu v krvi nad normální hodnotu OFFICIAL +en cs HP:0025559 IAO:0000115 A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown Typ katarakty charakterizovaný kyjovitými a bodovými opacitami umístěnými radiálně v kortexu. Tyto opacity obklopují jádro a výsledná vzhled připomíná korunu OFFICIAL +en cs HP:0025567 IAO:0000115 An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the centre of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months Anomálie sítnice se serózním odchlípením neurosenzorické sítnice sekundární k jedné nebo více fokálním lézím retinálního pigmentového epitelu (RPE) a spojená s rozmazaným viděním, obvykle pouze na jednom oku a pacientem obvykle vnímána jako tmavá skvrna středu zorného pole s přidruženou mikropsií a metamorfopsií. Normální vidění se často spontánně vrátí během několika měsíců. OFFICIAL +en cs HP:0025571 IAO:0000115 A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree Typ šedého zákalu, který vykazuje velkolepé zobrazení mnoha barev, jež se třpytí při změně dopadajícího světla jako osvětlený vánoční stromek. OFFICIAL en cs HP:0025624 IAO:0000115 An abnormally decreased proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-ngative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative Abnormálně snížený podíl efektorových paměťových CD4+ T-lymfocytů v porovnání s celkovým počtem T-lymfocytů v krvi. Jedná se o paměťové buňky krátkodobě žijící, které migrují do místa infekce a snaží se patogen eliminovat. Tyto buňky mají fenotyp CD3 pozitivní, CD4 pozitivní, CD62L negativní, CCR7 negativní, CD127 pozitivní, CD45RA negativní, CD45RO pozitivní a CD25 negativní. OFFICIAL en cs HP:0025641 IAO:0000115 An abnormally increased concentration of glycolate in the blood circulation Abnormálně zvýšená koncentrace glykolátu v krevním oběhu CANDIDATE en cs HP:0025654 rdfs:label Placenta acreta Placenta acreta CANDIDATE en cs HP:0025662 IAO:0000115 An anomlous structural finding of the fetal skeleton. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other terms from the skeletal hierarchy can also be used to describe fetal phenotypes Anomální strukturální nález kosterního systému plodu. Pojmy v této subhierarchii jsou omezeny na nálezy, které lze pozorovat pouze v prenatálním období. K popisu fenotypů plodu lze použít i jiné termíny z kosterní hierarchie. CANDIDATE +en cs HP:0025679 IAO:0000115 Inflammation of an intervertebral disc or disk space Zánět meziobratlové ploténky CANDIDATE +en cs HP:0025702 IAO:0000115 A type of Schizencephaly in which there is a trans-mantle column of abnormal grey matter but no evidence of a CSF-containing cleft on MR imaging Typ schizencefalie, u kterého je příčný sloupec abnormální šedé hmoty, ale na zobrazení MR není patrný rozštěp obsahující mozkomíšní mok. CANDIDATE +en cs HP:0025703 IAO:0000115 A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal grey matter that are opposed to each other Typ schizencefalie, při níž je přítomna rozštěpová štěrbina obsahující mozkomíšní mok s přiléhajícími lemujícími okraji abnormální šedé hmoty, které jsou proti sobě. CANDIDATE +en cs HP:0025704 IAO:0000115 A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal grey matter Typ schizencefalie, při níž je přítomna rozštěpová štěrbina obsahující mozkomíšní mok s nepřiléhajícími výstelkovými lištami abnormální šedé hmoty. CANDIDATE en cs HP:0030008 IAO:0000115 Congenital absence of the cervix Vrozená absence hrdla děložního OFFICIAL en cs HP:0030018 IAO:0000115 Dminished sexual desire in female Snížená sexuální touha u žen OFFICIAL en cs HP:0030050 IAO:0000115 An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis Abnormální jev charakterizovaný klasickou tetrádou nadměrné denní ospalosti s neodolatelnými atakami ospalosti, kataplexií (náhlá oboustranná ztráta svalového tonu), s hypnagogickýma halucinacema a spánkovým ochrnutím OFFICIAL @@ -410,15 +504,25 @@ en cs HP:0030222 IAO:0000115 Difficulty in recognizing objects by visual input i en cs HP:0030223 IAO:0000115 Perseveration can be defined as the contextually inappropriate and unintentional repetition of a response or behavioral unit. In other words, the observed repetitiveness does not meet the demands of the situation, is not the product of deliberation, and may even unfold despite counterintention. Perseveration can therefore be differentiated from goal-directed and intentional forms of repetition, such as linguistic redundancies designed to enhance communicative or poetic impact Perseveraci lze definovat jako kontextově nevhodné a neúmyslné opakování reakce nebo jednotky chování. Jinými slovy, pozorovaná repetitivnost neodpovídá požadavkům situace, není produktem uvažování a může se dokonce vyvíjet navzdory protiúmyslu. Perseveraci lze tedy odlišit od cílených a záměrných forem opakování, jako jsou jazykové redundance určené ke zvýšení komunikačního nebo poetického vyznění. OFFICIAL en cs HP:0030223 rdfs:label Perseveration Perseverace OFFICIAL en cs HP:0030270 rdfs:label Elevated red cell adenosine deaminase level Zvýšená aktivita adenosindeaminázy v erytrocytech CANDIDATE +en cs HP:0030272 rdfs:label Abnormal erythrocyte enzyme level Abnormální hladina erytrocytárních enzymů OFFICIAL +en cs HP:0030299 rdfs:label Distal femoral metaphyseal abnormality Abnormalita distální femorální metafýzy OFFICIAL +en cs HP:0030320 IAO:0000115 An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space Zvětšení vertikální vzdálenosti mezi přilehlými obratlovými těly, pozorované jako zvětšení vzdálenosti meziobratlových plotének OFFICIAL +en cs HP:0030354 rdfs:label Abnormal circulating interferon concentration Abnormální koncentrace cirkulujícího interferonu CANDIDATE en cs HP:0030389 IAO:0000115 Any deivation from the normal concentration in the blood circulation of a thromboxane. Thromboxanes are derived from prostaglandin precursors in platelets, and stimulate aggregation of platelets and constriction of blood vessels Odchylka od normální koncentrace tromboxanu v krevním oběhu. Tromboxany jsou odvozeny z prekurzorů prostaglandinů v krevních destičkách a stimulují agregaci krevních destiček a konstrikci krevních cév OFFICIAL en cs HP:0030407 IAO:0000115 A type of pineal parenchymal cell neoplasm that is a mature well-differentiated tumour (WHO grade I) Typ novotvaru pinaeálních parenchymových buněk, který je zralým, dobře diferencovaným nádorem (WHO grade 1) OFFICIAL en cs HP:0030408 IAO:0000115 Pineoblastoma is a rare primitive neuroectodermal tumour (PNET) arising in the pineal gland. Pineoblastomas are classified as a WHO grade IV tumour and comprise one-fourth to one-half of pineal parenchymal tumours. Pineoblastoma is a highly cellular tumor originating in the pineal gland and containing small, poorly differentiated cells Pineoblastom je vzácný primitivní neuroektodermální nádor (PNET) vznikající v epifýze, šišince. Pineoblastomy jsou klasifikovány jako tumor stupně IV podle WHO a zahrnují jednu čtvrtinu až polovinu tumorů epifýzového parenchymu. Pineoblastom je vysoce buněčný nádor pocházející z epifýzy a obsahující malé, špatně diferencované buňky OFFICIAL +en cs HP:0030497 IAO:0000115 Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels Načechraná bílá skvrna na makule, která představuje lokalizované denzní oblasti bělavého otoku nervových vláken sítnice. Často mají klikatou strukturu, nerovný okraj, ale jinak jsou dobře ohraničené a velikost přibližně 1 mm; mírně vystupují do sklivce a někdy vychylují cévy sítnice. OFFICIAL en cs HP:0030508 rdfs:label Retinal cavernous hemangioma Kavernózní hemangiom sítnice OFFICIAL en cs HP:0030515 IAO:0000115 Moderate reduction of the ability to see defined as visual acuity less than 6/18 (20/60 in US notation; 0.5 in decimal notation) but at least 6/60 (20/200 in US notation; 0.1 in decimal notation) Střední snížení schopnosti vidět definované jako zraková ostrost méně než 6/18 (20/60 v USA notaci; 0.5 v desítkové notaci), ale minimálně 6/60 (20/200 v USA notaci; 0,1 v desítkové notaci). OFFICIAL +en cs HP:0030637 IAO:0000115 Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia Fenotyp sítnice charakterizovaný dysfunkcí fotoreceptorů čípků a zachovaným systémem tyčinek. Abnormalita je typicky stacionární nebo velmi pomalu progredující a nálezy mohou zahrnovat oslabené centrální vidění, abnormality barevného vidění, nystagmus a fotofobii. OFFICIAL +en cs HP:0030664 IAO:0000115 Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus Slabost dolní části přímého břišního svalu, která se klinicky zjišťuje takto. Když se pacient posadí nebo zvedne hlavu z polohy vleže, pupek se posune směrem k hlavě. Je to důsledek ochrnutí dolní části přímého břišního svalu, takže převažují horní vlákna, která táhnou pupek vzhůru. OFFICIAL +en cs HP:0030680 IAO:0000115 Any structural anomaly of the heart and great vessels Jakákoli strukturální anomálie srdce a velkých cév. OFFICIAL en cs HP:0030680 rdfs:label Abnormality of cardiovascular system morphology Abnormalita morfologie kardiovaskulární soustavy OFFICIAL +en cs HP:0030715 IAO:0000115 A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis Vývojová anomálie charakterizovaná fokální obliterací proximálního segmentu bronchu. Průdušky jsou distálně od místa stenózy zcela normální. OFFICIAL en cs HP:0030743 IAO:0000115 Persistance of a posterior remnant of the hyaloid artery located at the optic disc Perzistence zadního zbytku hyaloidní tepny v oblasti terče zrakového nervu. OFFICIAL en cs HP:0030744 IAO:0000115 A type of persistance of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract Typ perzistence hyaloidního cévního systému spojený s retrolentální hmotou, který může vést k fetální kataraktě. OFFICIAL en cs HP:0030765 IAO:0000115 Episodes of intense fear, screaming and flailing although affected individuals are still asleep Epizody intenzivního strachu, křiku a neklidem, ačkoli postižení jedinci stále spí OFFICIAL +en cs HP:0030782 rdfs:label Abnormal circulating interleukin concentration Abnormální sérová hladina interleukinu CANDIDATE en cs HP:0030783 IAO:0000115 An increased concentration of interleukin-6 in the blood circulation Zvýšená koncentrace interleukinu 6 v krevním oběhu CANDIDATE en cs HP:0030858 IAO:0000115 A recurrent pattern of behavior that is characeterized by the failure to resist an impulse, drive, or temptation to perform an act that is harmful to the person or to others. The repetitive engagement in these behaviors ultimately interferes with functioning in other domains Opakující se vzorec chování, který je charakterizován neschopností odolat impulsu, pudu nebo pokušení provést čin, který je škodlivý pro danou osobu nebo pro ostatní. Opakované zapojení do tohoto chování nakonec narušuje fungování v jiných oblastech života. OFFICIAL en cs HP:0030935 rdfs:label Abnormality of intestinal smooth muscle morphology Abnormalita morfologie hladké svaloviny střev OFFICIAL @@ -434,9 +538,12 @@ en cs HP:0031040 rdfs:label Late spermatogenesis maturation arrest Pozdní zást en cs HP:0031042 IAO:0000115 Inflammed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry Zanícený jazyk s hyperplastickými (zvětšenými) houbovitými papilami, které prý připomínají jahody nebo maliny OFFICIAL en cs HP:0031085 IAO:0000115 A reduced concentration of prealbumin in the blood. Prealbumin, also known as transthyretin, has a half-life in plasma of about 2 days, much shorter than that of albumin. Prealbumin is therefore more sensitive to changes in protein-energy status than albumin, and its concentration closely reflects recent dietary intake rather than overall nutritional status Snížená koncentrace prealbuminu v krvi. Prealbumin, známý také jako transtyretin, má v plazmě poločas rozpadu přibližně 2 dny, což je mnohem kratší doba než u albuminu. Prealbumin je proto citlivější na změny v energetickém stavu bílkovin než albumin a jeho koncentrace přesně odráží spíše nedávný příjem potravy než celkový stav výživy. OFFICIAL en cs HP:0031085 rdfs:label Decreased prealbumin level Snížená hladina prealbuminu OFFICIAL +en cs HP:0031100 IAO:0000115 A reduced concentration of inhibin B in the blood Snížená koncentrace inhibinu B v krvi OFFICIAL +en cs HP:0031100 rdfs:label Decreased inhibin B level Snížená hladina inhibinu B OFFICIAL en cs HP:0031102 rdfs:label Increased antimullerian hormone level Zvýšená hladina Antimülleriánského hormonu OFFICIAL en cs HP:0031103 rdfs:label Decreased antimullerian hormone level Snížená hladina Antimülleriánského hormonu OFFICIAL en cs HP:0031138 rdfs:label Abnormal B-type natriuretic peptide level Abnormální hladina natriuretického peptidu typu B OFFICIAL +en cs HP:0031203 IAO:0000115 A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses Typ bezbuněčných močových válců, které obsahují tukové kapky, tuková tělíska nebo krystaly cholesterolu a jsou často asociovány s volnými formami těchto elementů. Jejich identifikace může vyžadovat použití polarizační světelné mikroskopie, v níž se tukové elementy uložené v matrix válce zobrazují jako maltézské kříže OFFICIAL en cs HP:0031213 rdfs:label Elevated circulating 17-hydroxyprogesterone Zvýšený cirkulující 17-hydroxyprogesteron OFFICIAL en cs HP:0031339 rdfs:label Abnormal cadiomyocyte dystrophin staining Abnormální barvení kardiomyocytů na dystrofin OFFICIAL en cs HP:0031354 IAO:0000115 Difficulty initiating sleep, that is, increased sleep onset latency Potíže s usínáním, neboli prodloužená latence nástupu spánku OFFICIAL @@ -466,7 +573,10 @@ en cs HP:0031545 IAO:0000115 Reduced level of T cell receptor excision circle (T en cs HP:0031588 IAO:0000115 A conspicuously unhappy disposition characterized by negative assumptions, self-defeating talk, fear of failure, and negative ruminations about past events Nápadně nešťastná nálada charakterizovaná negativními předpoklady, poraženeckými řečmi, strachem ze selhání a negativním přemítáním o minulosti. OFFICIAL en cs HP:0031589 IAO:0000115 Frequent thinking about or preoccupation with killing oneself Časté myšlení nebo připrava k sebevraždě CANDIDATE en cs HP:0031602 IAO:0000115 An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary nbeating Anomálie v systému mukociliárního transportu, který funguje k transportu slizniční vrstvy vystýlající respirační epitel synchronizovaným ciliárním pohybem OFFICIAL +en cs HP:0031606 IAO:0000115 Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels Načechraná bílá skvrna na makule, která představuje lokalizované denzní oblasti bělavého otoku nervových vláken sítnice. Často mají klikatou strukturu, nerovný okraj, ale jinak jsou dobře ohraničené a velikost přibližně 1 mm; mírně vystupují do sklivce a někdy vychylují cévy sítnice. OFFICIAL +en cs HP:0031671 IAO:0000115 Typical atrial flutter is an organised atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative Typický flutter síní je organizovaná síňová tachykardie. Může být také definován jako reentry tachykardie omezená na pravou síň. Tato arytmie má délku cyklu 200-260 ms, ačkoliv délka může kolísat v závislosti na předchozí léčbě nebo ablaci, vrozené srdeční vadě atd. Komorová frekvenční odpověď bude omezena vedením atrioventrikulárního uzlu, obvykle představuje odpověď 2:1 nebo 3:1, během flutteru síní. Typický (proti směru hodinových ručiček) flutter je spojen s běžným vzorem flutteru: pravidelným kontinuálním vlněním s dominantními negativními výchylkami v dolních svodech II, III a aVF, často popisovaným také jako vzor zubů pily a plochými výchylkami síní ve svodech I a aVL. Síňové výchylky ve V1 mohou být pozitivní, bifázické nebo negativní. OFFICIAL en cs HP:0031799 IAO:0000115 Reduced criculating level of apolipoprotein AI, which is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease Snížená hladina apolipoproteinu AI, který je hlavní proteinovou složkou lipoproteinu o vysoké hustotě (HDL) v plazmě. Defekty tohoto genu jsou spojeny s nedostatkem HDL, včetně Tangerovy choroby OFFICIAL +en cs HP:0031805 IAO:0000115 A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal haemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina "Podtyp krvácení do fundu vyskytující se v neurosenzorické sítnici. Intraretinální hemoragie mohou mít tvar ""tečky"" nebo ""skvrny"" nebo plamene v závislosti na jejich hloubce v sítnici." OFFICIAL en cs HP:0031814 IAO:0000115 Repetition of one's own words or phrases Opakování vlastních slov nebo frází. OFFICIAL en cs HP:0031844 IAO:0000115 A sense of intense joy or happiness that is beyond what would be expected under the given circumstances Intenzivní pocit radosti nebo štěstí, které je nad rámec toho, co by se dalo očekávat za daných okolností OFFICIAL en cs HP:0031849 IAO:0000115 A reversal of sleeping habits with a tendency to sleep during the day and to be awake at night Převrácení spánkových návyků s tendencí spát přes den a být v noci vzhůru. OFFICIAL @@ -479,20 +589,36 @@ en cs HP:0031877 IAO:0000115 An abnormally increased concentration of hepcidin i en cs HP:0031877 rdfs:label Elevated hepcidin level Zvýšená hladina hepcidinu OFFICIAL en cs HP:0031906 rdfs:label Decreased total hemolytic complement activity Snížená celková hemolytická aktivita komplementu OFFICIAL en cs HP:0031908 IAO:0000115 Abnormally small sized handwriting defined formally as an impairment of a fine motor skill manifesting mainly as a progressive or stable reduction in amplitude during a writing task Abnormálně malý rukopis formálně definovaný jako porucha jemné motoriky, která se projevuje především progresivním nebo stabilním snížením amplitudy při psaní. OFFICIAL +en cs HP:0031931 IAO:0000115 Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behaviour and its occurrence may be favoured by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation Oční flutter (třepotání) je abnormální oční pohyb sestávající z opakovaných, nepravidelných, mimovolních sérií horizontálních sakád bez intersakadického intervalu. Obvykle se překrývá s normálním okulomotorickým chováním a jeho výskyt mohou podpořit různé události, jako je mrknutí, spuštění normálních sakád nebo optokinetická stimulace. OFFICIAL en cs HP:0031937 IAO:0000115 Extreme rapidity of speech Extrémně rychlá mluva OFFICIAL en cs HP:0031956 IAO:0000115 An abnormally high concentration in the circulation of aspartate aminotransferase (AST) Abnormálně vysoká koncentrace aspartátaminotransferázy (AST) v oběhu OFFICIAL +en cs HP:0031973 IAO:0000115 An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc Abnormální zvýšení poměru výšky pohárku hlavy zrakového nervu k výšce disku. OFFICIAL +en cs HP:0031974 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.6 (The normal cup-to-disc ratio is 0.3) Poměr výšky pohárku hlavičky zrakového nervu k výšce disku je 0,6 (normální poměr pohárku a disku je 0,3). OFFICIAL +en cs HP:0031975 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.7 (The normal cup-to-disc ratio is 0.3) Poměr výšky pohárku hlavičky zrakového nervu k výšce disku je 0,7 (normální poměr pohárku a disku je 0,3). OFFICIAL +en cs HP:0031976 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3) Poměr výšky pohárku hlavičky zrakového nervu k výšce disku je 0,8 (normální poměr pohárku a disku je 0,3). OFFICIAL +en cs HP:0031977 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.9 (The normal cup-to-disc ratio is 0.3) Poměr výšky pohárku hlavičky zrakového nervu k výšce disku je 0,9 (normální poměr pohárku a disku je 0,3). OFFICIAL +en cs HP:0031978 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 1.0 (The normal cup-to-disc ratio is 0.3) Poměr výšky pohárku hlavičky zrakového nervu k výšce disku je 1,0 (normální poměr pohárku a disku je 0,3). OFFICIAL en cs HP:0031986 IAO:0000115 Irregular, small-amplitude myoclonic movements of the hands and/or fingers on keeping outstretched posture (jerky postural tremor). Polyminimyoclonus is stimulus-sensitive and accentuated during voluntary movements. A cortical origin can be demonstrated by back-averaging techniques, and somatosensory evoked potentials (SSEPs) are sometimes giant Nepravidelné myoklonické pohyby rukou a/nebo prstů s malou amplitudou při držení natažené polohy (trhavý posturální třes). Polyminimyoklonus je citlivý na podněty a zvýrazňuje se při volních pohybech. Kortikální původ lze prokázat technikami zpětného zprůměrování a somatosenzorické evokované potenciály (SSEP) jsou někdy zvýšené. OFFICIAL en cs HP:0032025 IAO:0000115 A reduced concentration of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs Snížená koncentrace cirkulujícího alfa1-antitrypsinu, glykoproteinu o velikosti 52-kDam který je syntetizovaný a vylučovaný hepatocyty do krevního řečiště. Alfa1-antitrypsin je inhibitor séroproteinázy, který má zásadní význam pro udržení proteázové homeostázy v plicích OFFICIAL en cs HP:0032025 rdfs:label Reduced serum alpha-1-antitrypsin Snížená hladina sérového alfa1-antitrypsinu OFFICIAL +en cs HP:0032027 IAO:0000115 Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size Žluté, bílé nebo šedavé léze na sítnici, které jsou dobře ohraničené/výrazné, jednotlivé a většinou stejné velikosti. OFFICIAL +en cs HP:0032028 IAO:0000115 Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size Žluté, bílé nebo šedavé léze v makule, které jsou dobře ohraničené/výrazné, jednotlivé a většinou stejné velikosti. OFFICIAL +en cs HP:0032030 IAO:0000115 Laxity of the tendon stabilising the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed Zvýšená laxita šlachy stabilizující laterální část tarzální ploténky ke zygomatické kosti. Toto může vést k obloukovitému vzhledu laterálního očního koutku. Když je takové víčko odtaženo mediálně, je možné pozorovat pohyb kantálního úhlu o více než 2 mm. OFFICIAL +en cs HP:0032031 IAO:0000115 Laxity of the tendon stabilising the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally Laxicita vazu stabilizujícího mediální část tarzální ploténky na anteriorní a posteriorní crista lacrimalis. Pokud se víčko odtáhne laterálně, dojde k posunu punctum lacrimale více než 2 mm. OFFICIAL +en cs HP:0032033 IAO:0000115 Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilising structures (e.g. lower lid retractors) or tarsal atrophy are often present Abnormálně laxní oční víčka asociované s relaxací tkání, predominantně ve vertikální rovině. Lze demonstrovat vertikálním tahem za víčko. Oslabení vertikálních stabilizačních struktur (e.g. dolních retraktorů víčka) či tarzální atrofie jsou často přítomny. OFFICIAL en cs HP:0032037 IAO:0000115 Mild reduction of the ability to see defined as visual acuity less than 6/12 (20/40 in US notation; 0.5 in decimal notation) but at least 6/18 (20/63 in US notation; 0.32 in decimal notation) Mírné snížení zrakové schopnosti definované jako zraková ostrost menší než 6/12 (20/40 v americkém zápisu; 0,5 v desetinném zápisu), ale nejméně 6/18 (20/63 v americkém zápisu; 0,32 v desetinném zápisu). OFFICIAL en cs HP:0032044 IAO:0000115 A reduction in the ability to maintain sustained attention characterized by reduced alertness Snížení schopnosti udržet trvalou pozornost charakterizované sníženou bdělostí. CANDIDATE +en cs HP:0032055 IAO:0000115 A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organisation (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis) Podtyp fokální kortikální dysplazie typu III, který je charakterizován změnami v architektonické organizaci (kortikální dyslaminace) nebo cytoarchitektonickém složení (hypertrofické neurony mimo vrstvu 5) u pacientů s hipokampální sklerózou. CANDIDATE en cs HP:0032119 rdfs:label Narrow angle glaucoma Glaukom s úzkým úhlem OFFICIAL +en cs HP:0032170 IAO:0000115 An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterised by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella Neobvykle závažná forma infekce virem Varicella zoster (VZV). Ve většině případů, zejména u dětí, je varicella velmi mírnou infekcí charakterizovanou kožními lézemi, nízkou horečkou a malátností. Těžká infekce je charakterizována projevy zahrnujícími VZV pneumonii, hepatitidu, meningitidu a diseminovanou varicellu. OFFICIAL +en cs HP:0032202 IAO:0000115 Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognised: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC Vulvární intraepiteliální neoplazie (VIN) je obecně považována za prekurzor vulvárního dlaždicobuněčného karcinomu (VSCC). VSCC vzniká buď cestou spojenou s lidským papiloma virem (HPV), nebo častěji mechanismem nezávislým na HPV, často spojeným s chronickými zánětlivými stavy, jako je lichen sclerosus (LS). V souladu s tím jsou uznávány dva odlišné podtypy VIN: HPV asociovaná skvamózní intraepiteliální léze vysokého stupně/obvyklá VIN (HSIL/uVIN) a HPV neasociovaná diferencovaná VIN (dVIN). HSIL se klinicky pozná podle multifokálního bradavičnatého vzhledu a histologicky podle nápadných cytologických a architektonických atypií. Diferencovaná VIN naproti tomu často vytváří špatně definované léze a na histologii notoricky napodobuje nenádorové epiteliální poruchy (NNED), zejména LS. V důsledku toho je dVIN zřídka identifikována dříve, než je diagnostikována invazivní malignita, přestože je prekurzorovou lézí většiny VSCC. OFFICIAL en cs HP:0032223 IAO:0000115 Any of the various types of human blood whose antigen characteristics determine compatibility in transfusion. While the ABO and Rhesus sytems are the most well known, there are in total about 300 different blood type antigens distributed across 34 different blood type systems Jakýkoli z různých typů lidských krvních skupin, jejichž antigenní vlastnosti určují kompatibilitu s transfuzi. Zatímco AB0 a Rh systém jsou nevíce známé, existuje celkem asi 300 různých typů krevních antigenů tvořících přes 34 různých systémů krvních skupin. OFFICIAL en cs HP:0032227 IAO:0000115 A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elswehere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola Časté benigní onemocnění kůže zahrnující hypertrofii mazových žláz, které se vyznačuje jednotlivými nebo vícečetnými lézemi, jež se projevují jako žluté, měkké, malé papulky s umbilikací. Léze se běžně nacházejí v centrální části obličeje (konkrétně na nose, tvářích a čele), ale mohou se vyskytovat i jinde, včetně hrudníku, úst, šourku, předkožky, penisu, vulvy a areoly. OFFICIAL en cs HP:0032237 IAO:0000115 An abnormally increased number of myelocytes in the peripheral blood circulation. Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and seconday granules, and a nucleus:cytoplasm ratio of 2:1 Abnormálně zvýšený počet myelocytů v periferní krvi. Myelocyty jsou nezralé neutrofily o velikosti 12-18 mikrometrů, s kulatým nebo oválným jádrem bez jadérek, modrorůžově zbarvenou cytoplazmou s primárními a sekundárními granulemi a poměrem jádro:cytoplazma 2:1. OFFICIAL en cs HP:0032238 IAO:0000115 An abnormally increased number of metamyelocytes in the peripheral blood circulation. Metamyelocytes are immature neutrophils with a size of 10-18 micrometers, an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm with seconday granules, and a nucleus:cytoplasm ratio of 1.5:1 Abnormálně zvýšený počet metamyelocytů v periferní krvi. Metamyelocyty jsou nezralé neutrofily o velikosti 10-18 mikrometrů, s vroubkovaným nebo ledvinovitým jádrem, růžovomodře zbarvenou cytoplazmou se sekundárními granulemi a poměrem jádro:cytoplazma 1,5:1. OFFICIAL en cs HP:0032239 IAO:0000115 An abnormally increased number of band cells in the peripheral blood circulation. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small seconday granules, and a nucleus:cytoplasm ratio of 1:2 Abnormálně zvýšený počet tyček v periferním krevním oběhu. Tyčky jsou nezralé neutrofily o velikosti 10-18 mikrometrů, s jádrem ve tvaru podkovy bez nukleolů, světle růžově zbarvenou cytoplazmou s mnoha malými sekrečními granulemi a poměrem jádro:cytoplazma 1:2. OFFICIAL en cs HP:0032248 IAO:0000115 Persistence of virus in the blood circulation longer than would be normal in an immunocompentent host Přetrvávání viru v krevním oběhu déle, než by bylo normální u imunokompetentního hostitele. OFFICIAL +en cs HP:0032272 rdfs:label Elevated urinary N-acetylaspartic acid level Zvýšená hladina kyseliny N-acetylasparagové v moči OFFICIAL en cs HP:0032273 IAO:0000115 An abnormally increased concentration of N-Acetylaspartic acid in the blood circulation Abnormálně zvýšená koncentrace N-Acetylaspartátové kyseliny v krevním oběhu OFFICIAL en cs HP:0032278 IAO:0000115 An increase in the level of 2-hydroxyglutaric acid in the urine Zvýšení hladiny 2-hydroxyglutarové kyseliny v moči OFFICIAL en cs HP:0032301 IAO:0000115 Warts affecting the skin in the genital area (peniile shaft, scrotum, vagina, or labia majora). Warts can be small, beginning as a pinhead-size swelling that may become larger and take on a pdenuculated appearance. Warts can spread and coalesce into large masses in the genital or anal area. Their color is variable but tends to be skin colored or darker, and they may occasionally bleed. Warts may cause itching, redness, or discomfort. An outbreak of genital warts may also cause psychological distress Bradavice postihující kůži v oblasti genitálií (penis, šourek, pochva nebo velké stydké pysky). Bradavice mohou být malé, začínající jako zduření velikosti špendlíkové hlavičky, které se může zvětšovat a nabývat stopkatého vzhledu. Bradavice se mohou šířit a spojovat do velkých útvarů v oblasti genitálií nebo konečníku. Jejich barva je proměnlivá, ale bývají zbarvené jako kůže nebo tmavší a občas mohou krvácet. Bradavice mohou způsobovat svědění, zarudnutí nebo nepříjemné pocity. Výskyt genitálních bradavic může také způsobit psychické potíže. CANDIDATE @@ -506,6 +632,7 @@ en cs HP:0032352 IAO:0000115 Increased level of methionine in urine Zvýšená h en cs HP:0032365 rdfs:label Exacerbated by aspirin ingestion Zhoršuje se po požití aspirinu CANDIDATE en cs HP:0032378 IAO:0000115 Hypersensitivity that is observed within 1 hr of exposures. A variety of adverse reactions can occur within minutes to hours of exposure to a drug. Some can be related to the pharmacological action of the drug (WHO Adverse Reaction Terminology type A for augmented) and usually have a low mortality. Others are not readily predictable based on the structure and pharmacological action of the drug and have a relatively high mortality risk (Type B for bizarre). The most serious form of immediate onset drug hypersensitivity reaction, anaphylaxis. Other reactions including itching,dizziness/light-headedness, nausea, chest discomfort but without any objective skin features, physical signs or physiological compromise. Skin only reactions include generalized erythema, urticaria or angioedema without any sentinel features (see below) of other organ involvement Přecitlivělost, která se projeví do 1 hodiny po expozici. Různé nežádoucí reakce se mohou objevit během několika minut až hodin po expozici léku. Některé z nich mohou souviset s farmakologickým účinkem léčiva (dle terminologie nežádoucích účinku WHO typ A jako „augmented“ ) a obvykle mají nízkou mortalitu. Jiné nejsou snadno předvídatelné na základě struktury a farmakologického účinku léčiva a mají relativně vysoké riziko úmrtí (typ B jako „bizarní“). Nejzávažnější formou reakce z přecitlivělosti na léky s okamžitým nástupem je anafylaxe. Další reakce zahrnující svědění, závratě/světloplachost, nauzeu, nepříjemné pocity na hrudi, ale bez objektivních kožních příznaků, fyzikálních příznaků nebo fyziologického zhoršení. Reakce pouze na kůži zahrnují generalizovaný erytém, kopřivku nebo angioedém bez jakýchkoli sentinelových příznaků postižení jiných orgánů. CANDIDATE en cs HP:0032422 IAO:0000115 Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2B particle is defined as an HDL particle with a size of 9.7-12 nm Jakákoli odchylka od normální koncentrace subfrakce HDL2b v krevním oběhu. Částice HDL2b je definována jako částice HDL o velikosti 9,7-12 nm. CANDIDATE +en cs HP:0032456 IAO:0000115 A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and grey matter Typ lissencefalie, při níž je při neuropatologickém vyšetření korová ploténka silně dezorganizovaná s věnčitým vzorem a bez laminace a jasného ohraničení bílé a šedé hmoty. CANDIDATE en cs HP:0032476 rdfs:label Abnormal circulating vitamin B6 level Abnormální hladina cirkulujícího vitaminu B6 CANDIDATE en cs HP:0032477 rdfs:label Elevated circulating vitamin B6 level Zvýšená hladina cirkulujícího vitaminu B6 CANDIDATE en cs HP:0032501 rdfs:label Exacerbated by contraceptive medication Zhoršení vlivem antikoncepčních léků CANDIDATE @@ -515,6 +642,7 @@ en cs HP:0032514 IAO:0000115 A congenital developmental anomaly characterized by en cs HP:0032514 rdfs:label Duplicated lacrimal punctum Duplikace punctum lacrimale CANDIDATE en cs HP:0032516 IAO:0000115 Infection that extends deeply into the dermins by dermatophytes, fungi that typically cause different types of superficial infection (tinea) or skin, hair, or nails Infekce, která zasahuje hluboko do kůže dermatofyty, houbami, které obvykle způsobují různé typy povrchových infekcí (tinea) nebo kůže, vlasů či nehtů. CANDIDATE en cs HP:0032525 rdfs:label Aggravated by acetylcholinesterase inhibitor Zhoršené inhibitorem acetylcholinesterázy CANDIDATE +en cs HP:0032530 rdfs:label Decreased succinic semialdehyde dehydrogenase level Snížená hladina koncentrace semialdehydu dehydrogenázy CANDIDATE en cs HP:0032538 IAO:0000115 A groove or crease on the shins (pretibial, i.e., over the shin bone). Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm in length and lenghten as the limb grows. They appear as an elongated dimple because of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple or crease grows in proportion to the growth of the leg Drážka nebo záhyb na holeních (pretibiální, tj. přes holenní kost). Pretibiální rýhy mohou být zřejmé již při narození a mohou mít délku od 3 cm do více než 15 cm a prodlužují se, jak končetina roste. Vypadají jako podlouhlý důlek který vzniká kvůli připojení kůže k podložní tkáni (např. k holenní kosti). Důlek nebo záhyb roste úměrně s růstem nohy. CANDIDATE en cs HP:0032641 IAO:0000115 Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present Intersticiální agregáty histiciocytů, příležitostně vícejaderné s přidruženým lymfoplasmacytickým a příležitostně eozinofilním zánětem. Organizace se může pohybovat od špatně definovaných až po dobře definované a mohou být přítomny obří mnohojaderné buňky. CANDIDATE en cs HP:0032642 IAO:0000115 An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation Organizovaný soubor histiocytů (konkrétně makrofágů) lokalizovaný v intersticiální tkáni ledviny. Ve světelné mikroskopii se aktivované histiocyty jeví jako epiteloidní buňky s kulatými až oválnými jádry, často s nepravidelnými konturami a hojnou granulární eozinofilní cytoplazmou s nezřetelnými hranicemi buněk. Mohou se také spojovat do vícejaderných obrovských buněk. Granulomy mohou být spojeny s periferním prstencem lymfoplazmocytárního a příležitostně eozinofilního zánětu. Organizace může být od špatně až po dobře ohraničenou. Granulomy se mohou projevovat jako nekrotizující nebo nenekrotizující. Mikroskopicky mají nekrotizující granulomy zřetelně centrální nekrózu s palisádovou lymfohistiocytární reakcí a prstencem chronického zánětu. CANDIDATE @@ -522,15 +650,25 @@ en cs HP:0032643 IAO:0000115 Interstital aggregates of histiciocytes, occasional en cs HP:0032649 IAO:0000115 A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occurunder the metatarsal heads and thehead of the plantar-flexed talus Typ ploché nohy, pro který je charakteristický abductovalgus zadní části chodidla, metatarsus addductus a zkrácení Achillovy šlachy. K převažujícím rentgenografickým nálezům patří addukce přednoží s laterální subluxací os naviculare na talus a valgozita paty. Velmi abnormální opotřebení obuvi je pozorováno na mediální straně. Mozoly se vyskytují pod hlavičkami metatarzů a hlavičkou plantárně ohnutého talu. CANDIDATE en cs HP:0032660 IAO:0000115 A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between.ncomment: nsource: nseeAlso: Tonic-clonic status epilepticus Typ epileptického statu charakterizovaný prolongovaným oboustranným tonicko-klonickým záchvatem nebo opakovanými oboustrannými tonicko-klonickými záchvaty bez zotavení mezi nimi CANDIDATE en cs HP:0032674 IAO:0000115 A cutaneous wound is a defined as a disruption of normal anatomic structure and function of the skin that occured owing to an injury of the skin. Wound healing is a dynamic, interactive processinvolving soluble mediators, blood cells, extracellularmatrix, and parenchymal cells. Wound healing has three phases: inflammation, tissue formation, and tissue remodeling, that overlap in time Rána kůže je definována jako narušení normální anatomické struktury a funkce kůže, ke kterému došlo v důsledku poranění kůže. Hojení ran je dynamický, interaktivní proces zahrnující rozpustné mediátory, krevní buňky, extracelulární matrix a parenchymální buňky. Hojení ran má tři fáze: zánět, tvorbu tkáně a přestavbu tkáně, které se v čase překrývají. CANDIDATE +en cs HP:0032679 IAO:0000115 A type of focal-onset seizure characterized by non-motor signs or symptoms (or behaviour arrest) as its initial semiological manifestation Typ fokálního záchvatu charakterizovaný nemotorickými příznaky nebo symptomy (nebo zárazy v chování) jako počátečním semiologickým projevem. CANDIDATE +en cs HP:0032736 IAO:0000115 Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behaviour Fokální emoční záchvat s hněvem je charakterizován přítomností hněvu jako vyjádřené nebo pozorované emoce na začátku záchvatu. Může být doprovázen agresivním chováním. CANDIDATE +en cs HP:0032755 IAO:0000115 A focal autonomic seizure characterised by impaired awareness at some point within the seizure Fokální autonomní záchvat charakterizovaný poruchou vědomí v určitém okamžiku záchvatu CANDIDATE en cs HP:0032764 IAO:0000115 A type of focal autonomic seizure characterised by penile erection as the intial semiological feature Typ fokálního autonomního záchvatu charakterizovaný erekcí penisu jako počátečním semiologickým příznakem CANDIDATE +en cs HP:0032789 IAO:0000115 A focal behavior arrest seizure characterised by retained awareness throughout the seizure Fokální záchvat se zárazem v chování charakterizovaný zachovaným vědomím po celou dobu záchvatu. OFFICIAL +en cs HP:0032790 IAO:0000115 A focal behavior arrest seizure characterised by impaired awareness at some point during the seizure Fokální záchvat se zárazem v chování charakterizovaný poruchou vědomí v určitém okamžiku záchvatu. OFFICIAL +en cs HP:0032792 IAO:0000115 A tonic seizure is a type of motor seizure characterised by unilateral or bilateral limb stiffening or elevation, often with neck stiffening Tonický záchvat je typ motorického záchvatu charakterizovaný jednostranným nebo oboustranným ztuhnutím nebo elevací končetin, často se ztuhnutím krku. OFFICIAL +en cs HP:0032794 IAO:0000115 A myoclonic seizure is a type of motor seizure characterised by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus Myoklonický záchvat je typ motorického záchvatu charakterizovaný náhlou, krátkou (100 ms) mimovolní kontrakcí jednoho nebo více svalů nebo svalových skupin s různou topografií (axiální, proximální končetiny, distální). Myoklonus je méně pravidelně se opakující a méně trvalý než klonus. CANDIDATE +en cs HP:0032795 IAO:0000115 A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterised by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus Generalizované myoklonicko-tonicko-klonické křeče jsou typem generalizované motorické křeče charakterizované jedním nebo více záškuby končetin oboustranně, po nichž následuje tonická a klonická fáze. Počáteční záškuby lze považovat buď za krátké období klonu, nebo za myoklonus. CANDIDATE en cs HP:0032816 IAO:0000115 Neonatal multifocal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at multiple sites Neonatální multifokální myoklonický záchvat je typ novorozeneckého elektroklinického motorického záchvatu, kde převládajícím motorickým projevem je náhlá, krátká (<<100 ms) nedobrovolná jednorázová nebo vícenásobná kontrakce svalů nebo svalových skupin různé topografie (axiální, proximální končetina, distální) který se vyskytuje na více místech. CANDIDATE en cs HP:0032829 IAO:0000115 Neonatal electro-clinical motor seizure with automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, and in association with other features Neonatální elektroklinický motorický záchvat s automatismy je typ novorozeneckého elektroklinického záchvatu, kde EEG nález koreluje s koordinovanou motorickou aktivitou, typicky orální, obvykle s poruchou vědomí a dalšími projevy. OFFICIAL en cs HP:0032832 IAO:0000115 Neonatal bilateral asymmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body asymmetrically Neonatální bilaterální asymetrický myoklonický záchvat je typ neonatálního elektroklinického motorického záchvatu, jehož převládajícím motorickým projevem je náhlá, krátká (<100 msec) mimovolní jednotlivá nebo vícenásobná kontrakce svalů nebo svalových skupin s různou topografií (axiální, proximální končetiny, distální), která se vyskytuje na obou stranách těla asymetricky. OFFICIAL en cs HP:0032834 IAO:0000115 Neonatal seizure with bilateral asymmetric automatisms is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at one side of the body Neonatální záchvat s oboustrannými asymetrickými automatismy je typ novorozeneckého elektroklinického záchvatu, kdy elektrografická aktivita koreluje s koordinovanou motorickou aktivitou, obvykle orální, vyskytující se na jedné straně těla. Záchvat je obvykle provázen poruchou vědomí. OFFICIAL en cs HP:0032835 IAO:0000115 Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at both sides of the body symmetrically Neonatální záchvat s oboustrannými asymetrickými automatismy je typ novorozeneckého elektroklinického záchvatu, kdy elektrografická aktivita koreluje s koordinovanou motorickou aktivitou, typicky orální, vyskytující se na obou stranách těla symetricky. Záchvat je obvykle provázen poruchou vědomí. OFFICIAL en cs HP:0032836 IAO:0000115 Neonatal bilateral symmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body symmetrically Neonatálbí bilaterální symetrický myoklonický záchvat je typ novorozeneckého elektroklinického motorického záchvatu, jehož převládajícím motorickým projevem je náhlá, krátká (<100 msec) mimovolní jednotlivá nebo vícenásobná kontrakce svalů nebo svalových skupin s různou topografií (axiální, proximální končetiny, distální), která se vyskytuje na obou stranách těla symetricky. OFFICIAL +en cs HP:0032851 IAO:0000115 A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis Záchvat charakterizovaný zrakovými halucinacemi, jako jsou blikající světla/barvy, tvary, jednoduché obrazce, skotomata nebo amauróza. CANDIDATE en cs HP:0032858 IAO:0000115 A focal motor seizure with negative myoclonus characterized by impairement of awareness at some point during the seizure Fokální motorický záchvat s negativním myoklonem charakterizovaný poruchou uvědomění v určitém okamžiku během záchvatu CANDIDATE en cs HP:0032879 IAO:0000115 A focal cognitive seizure with dissociation at the onset of the seizure impairment of awareness at at some point during the seizure Fokální kognitivní záchvat s disociací na počátku záchvatu a s poruchou vědomí v určitém okamžiku záchvatu. CANDIDATE +en cs HP:0032928 IAO:0000115 Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large calibre myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases Lehký řetězec neurofilament (NfL) je neuronální cytoplazmatický protein vysoce exprimovaný v myelinizovaných axonech velkého kalibru. Jeho hladina se zvyšuje v mozkomíšním moku (likvoru) a krvi úměrně stupni axonálního poškození u různých neurologických poruch, včetně zánětlivých, neurodegenerativních, traumatických a cerebrovaskulárních onemocněn CANDIDATE en cs HP:0032936 IAO:0000115 Unintentional reexperiencing a traumatic event comprising symptoms are usually sensory impressions and emotional responses from the trauma that appear to lack a time perspective and a context Nezáměrné znovuprožívání traumatické události zahrnující symptomy. Obvykle smyslové vjemy a emoční reakce na trauma, které jako by postrádaly časovou perspektivu a kontext. CANDIDATE en cs HP:0032937 IAO:0000115 After suffering psychological trauma, people can repeatedly experience sensory-perceptual impressions of the event, which intrude involuntarily into consciousness. These intrusive memories typically take the form of visual images (e.g., pictures in the mind's eye), but can also include sounds, smells, tastes and bodily sensations, and come with a range of negative emotions associated with the hotspots in the trauma memory Po utrpěném psychickém traumatu mohou lidé opakovaně zažívat smyslově-percepční vjemy události, které nedobrovolně pronikají do vědomí. Tyto vtíravé vzpomínky mají obvykle podobu vizuálních obrazů (např. obrázků v mysli), ale mohou zahrnovat také zvuky, vůně, chutě a tělesné pocity a přicházejí s řadou negativních emocí spojených s horkými místy traumatické vzpomínky. CANDIDATE en cs HP:0032938 IAO:0000115 Recurrent distressing dreams in which the content and/or affect of the dream are related to the traumatic event or events Opakující se znepokojivé sny, jejichž obsah a/nebo vliv souvisí s traumatickou událostí nebo událostmi. CANDIDATE @@ -561,9 +699,11 @@ en cs HP:0033060 IAO:0000115 A reduced level of the complement component C5 in t en cs HP:0033060 rdfs:label Decreased serum complement C5 Snížení sérového komplementu C5 CANDIDATE en cs HP:0033063 IAO:0000115 A tendency to sleep less hours than usual while feeling well rested Tendence spát méně hodin než je běžné a přitom se cítit odpočatý. CANDIDATE en cs HP:0033063 rdfs:label Shortened sleep cycle Zkrácený spánkový cyklus CANDIDATE +en cs HP:0033068 IAO:0000115 A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber colour. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance Různé léky mohou příležitostně způsobit přechodnou krystalurii, izolovaně nebo ve spojení s jinými abnormalitami moči. Předávkování, dehydratace nebo hypoalbuminémie, které zvyšují množství nenavázaného léčiva, které je ultrafiltrováno glomerulem, jsou faktory obvykle podporující precipitaci krystalů v lumen tubulů. V některých případech má medikamentózní krystalurie typický fenotypový vzhled. Například krystaly sulfadiazinu se jeví jako silně dvojlomné „stohy pšenice“ nebo „skořápky“ s jantarovou barvou. Krystaly acykloviru jsou dvojlomné a jehličkovité, a když jsou hojné, dávají moči hedvábný a opaleskující makroskopický vzhled. CANDIDATE en cs HP:0033080 IAO:0000115 Thyrotrophin-releasing hormone (TRH) is a hypothalamic tripeptide synthesised by, stored within and released from the hypothalamus. It stimulates the synthesis and release of thyroid-stimulating hormone (TSH) from the anterior pituitary gland. Following administration of exogenous TRH, a transient increase in serum TSH is expected. This term refers to an abnormal reponse in the TRH stimulation test Tyreotropin uvolňující hormon (TRH) je hypotalamický tripeptid, který je syntetizován, ukládán a uvolňován z hypotalamu. Stimuluje syntézu a uvolňování hormonu stimulujícího štítnou žlázu (TSH) z přední hypofýzy. Po podání exogenního TRH se očekává přechodné zvýšení TSH v séru. Tento termín označuje abnormální odpověď při TRH stimulačním testu. CANDIDATE en cs HP:0033092 IAO:0000115 An increase in the level of succinate in the urine Zvýšení hladiny sukcinátu v moči CANDIDATE en cs HP:0033114 IAO:0000115 A type of gallop rhytm in which both the third and the fourth sounds are present Typ cvalového rytmu, ve kterém se vyskytuje jak třetí, tak čtvrtá ozva. CANDIDATE +en cs HP:0033126 IAO:0000115 Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red coloured skin Nekróza kůže a podkožní tkáně (odumření tkáně). Klinicky se kožní nekróza může projevovat jako bolestivá a extrémně citlivá černá eschara (odumřelá tkáň v ráně v celé tloušťce) obklopená tmavě šedočerveně zbarvenou kůží. CANDIDATE en cs HP:0033136 IAO:0000115 An inflammed lymph node that is filled with pus Zanícená lymfatická uzlina, která je naplněná hnisem. CANDIDATE en cs HP:0033154 IAO:0000115 An increased concentration of lysyl-pyridinoline (deoxypyridinoline) cross-links in the bloood circulation Zvýšená koncentrace lysyl-pyridinolinových příčných vazeb (cross-link)(deoxypiridinolin) v oběhu. CANDIDATE en cs HP:0033159 IAO:0000115 Decreased level of inosine in urine. Inosine is a purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond Snížená hladina inosinu v moči. Inosin je purinový nukleosid, ve kterém je hypoxanthin připojen k ribofuranóze prostřednictvím beta-N(9)-glykosidické vazby. CANDIDATE @@ -581,7 +721,9 @@ en cs HP:0033302 IAO:0000115 An abnormally increased concentration of 4-Hydroxyp en cs HP:0033324 IAO:0000115 Increased concentration of homovanillic acid in the blood circulation Zvýšená koncentrace kyseliny homovanilové v krevním oběhu CANDIDATE en cs HP:0033332 IAO:0000115 An increased concentration of serum amyloid A in the blood circulation Zvýšená koncentrace amyloidu A v krevním oběhu CANDIDATE en cs HP:0033332 rdfs:label Elevated circulating amyloid A Zvýšený cirkulující amyloid A CANDIDATE +en cs HP:0033349 IAO:0000115 A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognisable by the primary clinician, carer or patient Čtyřnásobné nebo větší zvýšení obvyklé frekvence záchvatů během třídenního období, kdy pacient prokáže úplné zotavení mezi jednotlivými záchvaty v rámci nakupení. Nakupení záchvatů by mělo být rozpoznatelné pro primárního lékaře, ošetřovatele nebo pacienta. CANDIDATE en cs HP:0033363 IAO:0000115 Hyaline membranes are homogeneous eosinophilic material composed of cellular debris, plasma proteins, and surfactantnplastered against alveolar ducts and alveolar walls. The hyaline membranes are deposited along the walls of the alveoli, where gas exchange typically occurs, thereby making gas exchange difficult Hyalinní membrány jsou homogenní eozinofilní materiál složený z buněčných zbytků, plazmatických proteinů a surfaktantu, který je připevněn k alveolárním kanálkům a alveolárním stěnám. Hyalinní membrány se ukládají podél stěn alveolů, kde obvykle dochází k výměně plynů, a tím ztěžují výměnu plynů. CANDIDATE +en cs HP:0033398 IAO:0000115 Deposits of hyalinized collagen fibres in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs) Uložení hyalinizovaných kolagenních vláken v parietální pleuře (přednostně v pleuře přiléhající k žebrům, zejména k šestému až devátému žebru). CANDIDATE en cs HP:0033436 IAO:0000115 An abnormally increased concentration of 3-methyl-2-oxovaleric acid in the blood circulation Abnormálně zvýšená koncentrace kyseliny 3-methyl-2-oxovalerové v krevním oběhu CANDIDATE en cs HP:0033437 IAO:0000115 Abnormal increase of the concentration of 4-methyl-2-oxopentanoic acid in the blood circulation Abnormální zvýšení koncentrace kyseliny 4-methyl-2-oxopentanové v krevním oběhu CANDIDATE en cs HP:0033439 IAO:0000115 Increased concentration of decenoylcarnitine in the blood circulation Zvýšená koncentrace decenoylkarnitinu v krevním oběhu. CANDIDATE @@ -608,11 +750,18 @@ en cs HP:0033519 rdfs:label Methamphetamine addiction Metamfetaminová závislos en cs HP:0033520 IAO:0000115 Paradoxical embolism describes the passage of a venous or right-sided cardiac thrombus into the arterial or systemic circulation.nComment: Paradoxical embolism occurs most commonly through an intracardiac defect at the atrial level, but can also be due to another type of right-to-left-shunt, as for example in pulmonary arteriovenous malformations. Paradoxical embolism may lead to serious complications as ischemic stroke Paradoxní embolie popisuje průchod žilního nebo pravostranného srdečního trombu do arteriálního nebo systémového oběhu. CANDIDATE en cs HP:0033543 IAO:0000115 Nicotine addition can be defined as chronic compulsive nicotine seeking and continued use despite harmful consequences Závislost na nikotinu lze definovat jako chronické nutkavé vyhledávání nikotinu a pokračující užívání navzdory škodlivým následkům. CANDIDATE en cs HP:0033543 rdfs:label Nicotine addiction Nikotinismus CANDIDATE +en cs HP:0033552 IAO:0000115 Villitis of unknown etiology (synonymous with villitis of unknown aetiology) is a histologic diagnosis and, although it may have a variable distribution, evidence indicates that 3 parenchymal blocks will identify 62% of villitis, reaching an asymptote of 6 and 7 blocks identifying 85% of villitis. Villitis of unknown etiology by definition excludes those cases where an etiology is identified, such as viral or acute infections, and thus is preferred to the term nonspecific chronic villitis. It is usually lymphohistiocytic: although the presence of rare plasma cells does not exclude the diagnosis, thorough evaluation for an infectious etiology, such as cytomegalovirus, is required in a predominantly plasma cell villitis Zánět choriových klků (vilitida) neznámé etiologie je histologická diagnóza, a přestože může mít proměnnou distribuci, důkazy naznačují, že 3 parenchymální bloky identifikují 62 % vilitidy a dosahují asymptoty 6 a 7 bloků identifikujících 85 % vilitidy. Vilitida neznámé etiologie podle definice vylučuje ty případy, kdy je identifikována etiologie, jako jsou virové nebo akutní infekce, a proto se jí dává přednost před termínem nespecifická chronická vilitida. Obvykle je lymfohistiocytární: ačkoli přítomnost vzácných plazmatických buněk nevylučuje diagnózu, u převážně plazmatické vilitidy je nutné důkladné vyšetření infekční etiologie, jako je cytomegalovirus. CANDIDATE en cs HP:0033561 IAO:0000115 The presence of autoantibodies in the blood circulation that react against bactericidal/permeability-increasing protein (BPI). BPI is an endotoxin-binding host protein with important antibacterial effects against Gram-negative bacteria, such as Pseudomonas aeruginosa. nBPI is a 55 kDalton protein that is most abundant in the azurophilic granules of neutrophils. BPI also acts as a target antigen for antineutrophil cytoplasmic autoantibodies Přítomnost autoprotilátek v krevním oběhu, které reagují proti baktericidnímu a permeabilitu zvyšujícímu (bactericidal/permeability-increasing - BPI) proteinu. BPI hostitelský endotoxin vázající protein s významnými antibakteriálními účinky proti gramnegativním bakteriím, jako je Pseudomonas aeruginosa. nBPI je protein o molekulární hmotnosti 55 kiloDaltonů, který je nejhojněji zastoupen v azurofilních granulech neutrofilů. BPI také působí jako cílový antigen pro antineutrofilní cytoplazmatické autoprotilátky. CANDIDATE +en cs HP:0033578 IAO:0000115 Pre-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg) Prekapilární plicní hypertenze je hemodynamický stav charakterizovaný zvýšeným středním tlakem v plicnici (mPAP nad 20 mmHg) a plicním cévním odporem (PVR 3 Woodovy jednotky nebo více) doprovázeným normálním tlakem v zaklínění plicnice (PAWP nejvýše 15 mmHg). CANDIDATE +en cs HP:0033580 IAO:0000115 An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibres in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fibre action potentials. The shortest latency of the CMAP is the time from stimulus artefact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV) Abnormální nález při měření sumačního akčního potenciálu u EMG. Studie nervového vedení zahrnují aplikaci depolarizujících elektrických pulzů vln obdélnikového průběhu na kůži přes periferní nerv, čímž se vytvoří: (1) šířící se nervový akční potenciál (NAP) zaznamenaný ve vzdáleném bodě stejného nervu: a (2) sumární akční potenciál svalu (CMAP) vznikající aktivací svalových vláken v cílovém svalu zásobovaném nervem. Oba druhy mohou být zaznamenány povrchovými nebo jehlovými elektrodami. CMAP je souhrnná napěťová odezva z jednotlivých akčních potenciálů svalových vláken. Nejkratší latence CMAP je doba od stimulačního artefaktu do nástupu odpovědi a jedná se o dvoufázovou odezvu s počáteční výchylkou nahoru, po níž následuje menší výchylka dolů. Amplituda CMAP se měří od základní čáry po zápornou špičku (neurofyziologická konvence je, že záporné napětí se projevuje odchylkou směrem nahoru) a měří se v milivoltech (mV). CANDIDATE +en cs HP:0033613 IAO:0000115 Solid, homogenous nodules characterised by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes Pevné, homogenní noduly vyznačující se hladkým okrajem a oválným, zaobleným, lentiformním nebo trojúhelníkovým tvarem. Obvykle se nacházejí do 15 mm od abnormality nebo od pleury. Perifisurální noduly lze dále rozlišovat na typické (mají kontakt s interlobární přepážkou) a atypické (nemají kontakt s interlobární přepážkou). Pravděpodobně představují intrapulmonální lymfatické uzliny. CANDIDATE en cs HP:0033627 IAO:0000115 Increased amount of harderoporphyrin in the urine Zvýšené množství harderoporfyrinu v moči CANDIDATE +en cs HP:0033635 IAO:0000115 Post-capillary pulmonary hypertension is a hemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units) Postkapilární plicní hypertenze je hemodynamický stav charakterizovaný zvýšeným středním tlakem v plicnici (mPAP větší než 20 mmHg) a tlakem v zaklínění plicnice (PAWP větší než 15 mmHg) a plicní vaskulární rezistencí (PVR menší než 3 Woodovy jednotky). CANDIDATE +en cs HP:0033636 IAO:0000115 Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units) Kombinovaná pre- a postkapilární plicní hypertenze je hemodynamický stav charakterizovaný zvýšeným středním tlakem v plicnici (mPAP nad 20 mmHg) a tlakem v zaklínění plicnice (PAWP nad 15 mmHg) a plicní vaskulární rezistencí (PVR alespoň 3 Woddovy jednotky). CANDIDATE en cs HP:0033650 IAO:0000115 A parenchymal band is a linear opacity, usually 1-3 mm thick and up to 5 cm long that usually extends to the visceral pleuran(which is often thickened and may be retracted at the site of contact). It reflects pleuroparenchymal fibrosis and is usually associated with distortion of the lung architecture. Parenchymal bands are most frequently encountered in individuals who have been exposed to asbestos Parenchymální pruh je lineární opacita, obvykle 1-3 mm tlustá a až 5 cm dlouhá, která se obvykle rozšiřuje k viscerální pleuře (která je často zesílená a může být zatažena v místě kontaktu). Odráží pleuroparenchymální fibrózu a je obvykle spojen s distorzí plicní architektury. Parenchymatické pásy se nejčastěji vyskytují u jedinců, kteří byli vystaveni azbestu. CANDIDATE en cs HP:0033664 IAO:0000115 Gangliogliomas are rare tumours of the central nervous system. The are WHO grade I and considered low grade. They are well differentiated neuroepithelial tumours consisting of both dysplastic neuronal and neoplastic glial cells Gangliogliomy jsou vzácné nádory centrálního nervového systému. Jsou klasifikovány podle WHO jako grade I a jsou považovány za low grade. Jsou to dobře diferencované neuroepiteliální nádory sestávající z dysplastických neuronových a neoplastických gliových buněk. CANDIDATE en cs HP:0033676 IAO:0000115 A behavioral or psychological symptom that typically occurs following exposure to one or more traumatic events. Posttraumatic stress disorder (PTSD) symptoms include intrusive recollections (re-experiencing the trauma in flashbacks, memories or nightmares); avoidant and numbing symptoms (including diminished emotions and avoidance of situations that are reminders of the traumatic event); and hyperarousal (including increased irritability, exaggerated startle reactions or difficulty sleeping or concentrating) Behaviorální nebo psychologický symptom, který se obvykle objevuje po vystavení jedné nebo více traumatickým událostem. Mezi symptomy posttraumatické stresové poruchy (PTSD) patří intruzivní myšlenky (znovu prožívání traumatu ve flashbacích, vzpomínkách nebo nočních můrách); vyhýbavé a otupující symptomy (včetně snížených emocí a vyhýbání se situacím, které připomínají traumatickou událost); a hyperarousal (včetně zvýšené podrážděnosti, přehnaných úlekových reakcí nebo potíží se spánkem nebo koncentrací). CANDIDATE +en cs HP:0033680 IAO:0000115 The most common form of astrocytoma (WHO Grade I) in childhood. These typically have MAPK signalling pathway abnormalities Nejčastější forma astrocytomu (WHO grade I) v dětském věku. Obvykle se u nich vyskytují abnormality signální dráhy MAPK. CANDIDATE en cs HP:0033694 IAO:0000115 The false perception of tactile sensory input that creates a hallucinatory sensation of physical contact with an imaginary object Falešné vnímání hmatových smyslových vstupů, které vytváří halucinační pocit fyzického kontaktu s imaginárním předmětem. CANDIDATE en cs HP:0033705 IAO:0000115 A feeling of sadness characterized by crying episodes that can come on suddenly and are not under usual social control Pocit smutku charakterizovaný epizodami pláče, které mohou přijít náhle a nejsou pod obvyklou sociální kontrolou. CANDIDATE en cs HP:0033706 IAO:0000115 This condition is caused by slow-growing conglomeration of dust particles and collagen deposition in individuals (mostly coal workers) heavily exposed to inorganic dust. Progressive massive fibrosis manifests as masslike lesions, usually bilateral and innthe upper lobes. Background nodular opacities reflect accompanying pneumoconiosis, with or without emphysematous destruction adjacent to the massive fibrosis. Lesions similar to progressive massive fibrosis sometimes occur in other conditions, such as sarcoidosis and talcosis Toto onemocnění je způsobeno pomalu rostoucím shlukováním prachových částic a ukládáním kolagenu u osob (většinou horníků) silně vystavených anorganickému prachu. Progresivní masivní fibróza se projevuje jako masivní léze, obvykle oboustranné a v horních lalocích. Nodulární opacity v pozadí odrážejí doprovodnou pneumokoniózu, s emfyzematózní destrukcí nebo bez ní, která přiléhá k masivní fibróze. Léze podobné progresivní masivní fibróze se někdy vyskytují i u jiných onemocnění, jako je sarkoidóza a talkóza. CANDIDATE @@ -626,12 +775,14 @@ en cs HP:0034026 rdfs:label Elevated circulating sacchoropine concentration Zvý en cs HP:0034041 rdfs:label Ventricular ectopy Komorová ektopie CANDIDATE en cs HP:0034074 IAO:0000115 An abnormally elevated echogenicity of fetal long bones in a prenatal sonographic investigation. Ths finding is due to hypermineralization Abnormálně zvýšená echogenita dlouhých kostí plodu při prenatálním sonografickém vyšetření. Tento nález je způsoben hypermineralizací. OFFICIAL en cs HP:0034116 rdfs:label Anti-thyrotropin receptor antibody Protilátky proti thyreotropinovému receptoru CANDIDATE +en cs HP:0034192 IAO:0000115 Pulmonary embolism is caused by emboli, which have originated from venous thrombi, travelling to and occluding the arteries of the lung Plicní embolie je způsobena emboliemi, které pocházejí z žilních trombů, putují do plicních tepen a ucpávají je. CANDIDATE en cs HP:0034206 IAO:0000115 An anomlous structural finding of the fetal central nervous system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes Anomální strukturální nález centrálního nervového systému plodu. Pojmy v této subhierarchii jsou omezeny na nálezy, které lze pozorovat pouze v prenatálním období. K popisu fenotypů plodu lze také použít jiné termíny HPO. CANDIDATE en cs HP:0034207 IAO:0000115 An anomlous structural finding of the fetal gastrointestinal system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes Anomální strukturální nález gastrointestinálního systému plodu. Pojmy v této subhierarchii jsou omezeny na nálezy, které lze pozorovat pouze v prenatálním období. K popisu fenotypů plodu lze také použít jiné termíny HPO. CANDIDATE en cs HP:0034242 IAO:0000115 An anomlous structural finding of the fetal genitourinary system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes Anomální strukturální nález urogenitálního systému plodu. Pojmy v této subhierarchii jsou omezeny na nálezy, které lze pozorovat pouze v prenatálním období. K popisu fenotypů plodu lze také použít jiné termíny HPO. CANDIDATE en cs HP:0034243 IAO:0000115 An anomlous structural finding of the fetal lungs. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes Anomální strukturální nález na plicích plodu. Pojmy v této subhierarchii jsou omezeny na nálezy, které lze pozorovat pouze v prenatálním období. K popisu fenotypů plodu lze také použít jiné termíny HPO. CANDIDATE en cs HP:0034290 IAO:0000115 An increased concentration of tiglylglycine in the blood circulation Zvýšená koncentrace tiglylglycinu v krevním oběhu CANDIDATE en cs HP:0034300 IAO:0000115 Reduced enzyme of acid sphingomyelinase activity in the blood circulation Snížená aktivita enzymu kyselí sfingomyelináziy v krevním oběhu CANDIDATE +en cs HP:0034302 IAO:0000115 A congenitally anomalous enlarged optic disk (surface area greater than 2.50 square millimeters). It is considered to be a normal variant without physiological defects Vrozeně anomálně zvětšený optický disk (plocha větší než 2,50 milimetru čtverečních). Považuje se za normální variantu bez fyziologických defektů. CANDIDATE en cs HP:0034318 IAO:0000115 Reactivation is the mechanism whereby a latent virus that has infected a host cell switches to a lytic stage, undergoing productive viral replication and allowing the virus to spread. This term refers to reactivation regarded as unusual because of frequency, intensity, location, or nature of the virus, in the sense that the rreactivation would not be observed in an immunocompetent host Reaktivace je mechanismus, kterým latentní virus, který infikoval hostitelskou buňku, přechází do lytického stadia, dochází k produktivní replikaci viru a virus se může šířit. Tento termín označuje reaktivaci považovanou za neobvyklou z důvodu četnosti, intenzity, lokalizace nebo povahy viru v tom smyslu, že reaktivace by nebyla pozorována u imunokompetentního hostitele. CANDIDATE en cs HP:0034321 IAO:0000115 An increased concentration of guanidinoacetic acid in the blood circulation Zvýšená koncentrace kyseliny guanidinoctové v krevním oběhu CANDIDATE en cs HP:0034326 IAO:0000115 Ectopic endometrial tissue within the uterine myometrium Ektopická endometriální tkáň v myometriu dělohy CANDIDATE @@ -640,6 +791,8 @@ en cs HP:0034337 IAO:0000115 An abormality of the hand characterized by metacarp en cs HP:0034367 IAO:0000115 Abnormally reduced activity of the enzyme beta-mannosidase, which is a lysosomal enzyme that catabolized oligosaccharides Abnormálně snížená aktivita enzymu beta-manosidázy, což je lysozomální enzym, který katabolizuje oligosacharidy. CANDIDATE en cs HP:0034367 rdfs:label Decreased beta-mannosidase activity Snížená aktivita beta-manosidázy CANDIDATE en cs HP:0034379 rdfs:label Vascular granular osmiophilic material deposition Ukládání vaskulárního granulovaného osmiofilního materiálu CANDIDATE +en cs HP:0034388 IAO:0000115 Hilar lymphadenopathy is swelling or enlargement of lymph nodes localised in hila, wedge-shaped anatomical structures containing pulmonary vessels, major bronchi, nerves and lymph nodes. Hilar lymph nodes are not visible on chest X-ray if they are not enlarged. Hilar lymph node enlargement can be caused by benign and malignant conditions and can be symmetrical (bilateral) or asymmetrical (unilateral) Hilová lymfadenopatie je zduření nebo zvětšení lymfatických uzlin lokalizovaných v hilu, klínovité anatomické struktuře obsahující plicní cévy, hlavní průdušky, nervy a lymfatické uzliny. Hilové lymfatické uzliny nejsou na rentgenovém snímku hrudníku viditelné, pokud nejsou zvětšené. Zvětšení hilových lymfatických uzlin může být způsobeno benigními i maligními stavy a může být symetrické (oboustranné) nebo asymetrické (jednostranné). CANDIDATE +en cs HP:0034389 IAO:0000115 Pulmonary vein varix (PVV), refers to a localised dilatation of a pulmonary vein. PVV is a rare condition and can be congenital or acquired. PVV typically occur at the confluence of the veins adjacent to the left atrium. PVVs are sometimes classified into three morphological types: saccular, tortuous and confluent Varixy plicních žil jsou lokalizované dilatace plicních žil. Jde o vzácný stav, který může být vrozený, nebo získaný. Obvykle se vyskytují na soutoku žil přiléhajících k levé síni. Někdy se dělí na tři morfologické typy: vakovité, tortuózní a splývající. CANDIDATE en cs HP:0034402 IAO:0000115 A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm Rabdoidní nádor vycházející z ledviny. Vyskytuje se u dětí a je spojen s abnormalitami chromozomu 22. Je charakterizován přítomností buněk s velkým excentrickým jádrem, prominujícím jadérkem a hojnou cytoplazmou. CANDIDATE en cs HP:0034434 IAO:0000115 Any abnormal behavior related to communication Jakékoli abnormální chování související s komunikací CANDIDATE en cs HP:0034434 rdfs:label Abnormal social communication behavior Abnormální sociální komunikace CANDIDATE @@ -651,6 +804,7 @@ en cs HP:0034497 IAO:0000115 An increased amount of hexanoic acid in the urine Z en cs HP:0034501 IAO:0000115 Abnormal lincrease in the width of the mediastinum, often defined as being greater than 6 to 8cm Abnormální zvětšení šířky mediastina, často definované jako větší než 6 až 8 cm. CANDIDATE en cs HP:0034510 IAO:0000115 Any deviation from the normal activity of an enzyme in muscle tissue, usually measured in a muscle biopsy specimen Jakákoli odchylka od normální aktivity enzymu ve svalové tkáni, obvykle měřená ve vzorku svalové biopsie CANDIDATE en cs HP:0034510 rdfs:label Abnormal muscle tissue enzyme activity Abnormální aktivita enzymů svalové tkáně CANDIDATE +en cs HP:0040057 rdfs:label Abnormality of nasal hair Abnormalita chloupků v nose OFFICIAL en cs HP:0040082 IAO:0000115 A conspicuously happy disposition with frequent smiling and laughing that may be context-inappropriate or unrelated to context Nápadně šťastná povaha s častým úsměvem a smíchem, který může být kontextově nevhodný nebo s kontextem nesouvisející OFFICIAL en cs HP:0040090 IAO:0000115 An abnormality of the tympanic membrane Abnormalita tympanické membrány OFFICIAL en cs HP:0040090 rdfs:label Abnormality of the tympanic membrane Abnormalita tympanické membrány OFFICIAL @@ -660,10 +814,15 @@ en cs HP:0040108 rdfs:label Morphological abnormality of the anterior semicircul en cs HP:0040109 rdfs:label Morphological abnormality of the utricle Morfologická abnormalita utrikulu OFFICIAL en cs HP:0040110 rdfs:label Morphological abnormality of the saccule Morfologická abnormalita sakulu OFFICIAL en cs HP:0040126 rdfs:label Abnormal vitamin B12 level Abnormální hladina vitaminu B12 OFFICIAL +en cs HP:0040130 rdfs:label Abnormal serum iron concentration Abnormální koncentrace železa v séru OFFICIAL +en cs HP:0040142 IAO:0000115 Decreased level of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate Snížená aktivita reakce 5-oxo-L-prolin + ATP + 2 H(2)O = L-glutamát + ADP + 2 H(+) + fosfát OFFICIAL +en cs HP:0040142 rdfs:label Reduced 5-oxoprolinase level Snížená hladina 5-oxoprolinázy OFFICIAL +en cs HP:0040149 IAO:0000115 The presence of woolly hair on the scalp. The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter Přítomnost vlnitých vlasů na pokožce hlavy. Termín vlnité vlasy označuje abnormální variantu vlasů, které jsou jemné, s pevně stočenými kadeřemi a často hypopigmentované. Optická mikroskopie může odhalit přítomnost těsných spirál a zřetelné zmenšení průměru ve srovnání s normálními vlasy. Elektronová mikroskopie může ukázat ploché, oválné vlasové stvoly se zmenšeným příčným průměrem. CANDIDATE en cs HP:0040208 IAO:0000115 Increased concentration of biopterin in the cerebrospinal fluid (CSF) Zvýšená koncentrace biopterinu v mozkomíšním moku OFFICIAL en cs HP:0040209 IAO:0000115 Decreased concentration of biopterin in the cerebrospinal fluid (CSF) Snížená koncentrace biopterinu v mozkomíšním moku OFFICIAL en cs HP:0040268 rdfs:label Recurrent infections of the middle ear Opakovaná infekce středního ucha OFFICIAL en cs HP:0040278 rdfs:label Prolactinoma Prolaktinom OFFICIAL +en cs HP:0040303 rdfs:label Decreased serum iron Snížené sérového železa OFFICIAL en cs HP:0040323 rdfs:label Erythema of the eyelids Erytém očních víček OFFICIAL en cs HP:0041048 IAO:0000115 A decrease in the protein expression fo GPI-anchor proteins, such as CD55 and CD59, at the cell surface, which suggests a defect in GPI-anchor biosynthesis Snížení exprese proteinů tzv. GPI kotev, jako jsou CD55 a CD59, na povrchu buněk, což naznačuje poruchu biosyntézy GPI kotev. CANDIDATE en cs HP:0041063 rdfs:label Chronic decreased cirulating IgG2 Chronicky snížený cirkulujícíc IgG2 CANDIDATE @@ -687,14 +846,18 @@ en cs HP:0045057 IAO:0000115 A decrease in the concentration of alpha-fetoprotei en cs HP:0045057 rdfs:label Decreased levels of alpha-fetoprotein Snížená hladina alfa fetoproteinu OFFICIAL en cs HP:0100007 IAO:0000115 A benign or malignant neoplasm (tumour) of the peripheral nervous system Benigní nebo maligní neoplázie (tumor) periferního nervového systému OFFICIAL en cs HP:0100016 rdfs:label Abnormality of mesentery morphology Abnormalita morfologie mesenteria OFFICIAL +en cs HP:0100021 IAO:0000115 Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems Pojem mozková obrna označuje skupinu trvalých poruch vývoje motoriky a držení těla, které vede k omezení aktivity. Tyto poruchy jsou neprogresivní a jsou důsledkem inzultu poškozujícího vývoj mozku plodu nebo kojence. Motorické poruchy při mozkové obrně jsou často provázeny poruchami smyslů, percepce, kognice, komunikace, chování a epilepsií a sekundárními muskuloskeletálními problémy OFFICIAL en cs HP:0100023 IAO:0000115 A type of stereotypic behavior in which the affected individual repeatedly waves the hands up and down Typ stereotypního chování, při němž postižený jedinec opakovaně mává rukama OFFICIAL en cs HP:0100024 IAO:0000115 An unusually happy aspect over time which can also may be observed during inappropriate situations that should be causing for example distress, fear or anger Neobvykle pozitivní ladění i v situacích, které za normálních okolností pozitivní ladění neevokují a které by měly být příčinou například strachu, nebo hněvu OFFICIAL en cs HP:0100025 IAO:0000115 A form of hypersociability that presents as mostly inappropriate people-orientation and friendliness towards others on an inadequate level which might go as far as being dangerous considering for example young children following strangers without restriction Forma neadekvátně zvýšené sociability zahrnující neobvykle přátelské chování či neadekvátně vstřícné chování vůči ostatním lidem. Chování toho to typu může vyústit v nebezpečné situace, jako je například skutečnost, že dítě bezelstně následuje neznámého cizího dospělého OFFICIAL en cs HP:0100033 IAO:0000115 Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppresable and are usually associated with awareness of an urge to perform the movement Opakované, definované, intermitentní, mimovolné pohyby či části pohybů, které pacient může na krátkou chvíli vůlí potlačit, obvykle jsou asociované s touhou provést daný pohyb OFFICIAL en cs HP:0100035 IAO:0000115 Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound Mimovolné zvuky produkované pohybem vzduchu nosem, dutinou ústní či hrdlem. Hlasivky nejsou použity u tohoto typu tiku OFFICIAL +en cs HP:0100241 IAO:0000115 Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations Ektopický respirační epitel, který se projevuje jako povrchová kožní léze obvykle jednostranně lokalizovaná v kůži předloktí a spojená s ipsilaterálními malformacemi ruky OFFICIAL en cs HP:0100251 IAO:0000115 The presence of mulitple lipomas located in the central nervous system Mnohočetné lipomy centrálního nervového systému CANDIDATE +en cs HP:0100274 IAO:0000115 Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal Gustatorní lakrimace vzniká kvůli aberantní inervaci vláken sedmého hlavového nervu do pterygopalatinního ganglion místo submandibulárního ganglion. Toto vede k nekontrolovanému slzení při jídle nebo při očekávání jídla. OFFICIAL en cs HP:0100291 rdfs:label Abnormality of central somatosensory evoked potentials Abnormalita centrálních somatosenzorických evokovaných potenciálů OFFICIAL en cs HP:0100311 IAO:0000115 Bands of scar-like tisssue that hve formed within a cerebral ventricle Pruhy jizvě podobného vaziva které se vytvořili v mozkové komoře. CANDIDATE +en cs HP:0100326 IAO:0000115 Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens Imunologické stavy, kdy imunitní systém reaguje škodlivými reakcemi v případě opakované expozici senzibilizujícími antigeny OFFICIAL en cs HP:0100335 IAO:0000115 Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region Rozštěpová vada horního rtu postihující spíše laterální část horního rtu než středovou/mediální oblast OFFICIAL en cs HP:0100335 rdfs:label Non-midline cleft lip Nestředový rozštěp rtu OFFICIAL en cs HP:0100502 rdfs:label Vitamin B12 deficiency Nedostatek vitamínu B12 OFFICIAL @@ -715,6 +878,7 @@ en cs HP:0100514 rdfs:label Abnormality of vitamin E metabolism Abnormalita meta en cs HP:0100523 IAO:0000115 The presence of an abscess of the liver Přítomnost abscesu v játrech OFFICIAL en cs HP:0100530 rdfs:label Abnormal calcium-phosphate regulating hormone level Abnormalita hladiny hormonu regulující vápník-fosfát OFFICIAL en cs HP:0100543 IAO:0000115 Abnormal cognition with deficits in thinking, reasoning, or remembering Abnormality v procesu myšlení, včetně schopnosti zpracovávat informace CANDIDATE +en cs HP:0100685 IAO:0000115 An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone Anomálie Sharpeyových vláken (kostních vláken nebo perforujících vláken), což je matrix pojivové tkáně tvořená svazky silných kolagenních vláken spojujících periost s kostí. OFFICIAL en cs HP:0100698 IAO:0000115 The presence of Neurofibromas in the subcutis Přítomnost neurofibromů v podkoží OFFICIAL en cs HP:0100698 rdfs:label Subcutaneous neurofibromas Podkožní neurofibromy OFFICIAL en cs HP:0100710 IAO:0000115 Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; difficulty establishing or following plans; a sense of urgency and self-harming behavior under emotional distress Jednání na základě okamžitého podnětu; jednání na základě okamžitého podnětu bez plánu nebo zvažování důsledků; potíže se stanovením nebo dodržováním plánů; pocit naléhavosti a sebepoškozující chování v emočním stresu. OFFICIAL @@ -724,11 +888,13 @@ en cs HP:0100738 IAO:0000115 Abnormal eating habit with excessive or insufficien en cs HP:0100742 IAO:0000115 A benign or malignant neoplasm (tumour) originating in the vascular system Benigní nebo maligní novotvar (nádor) pocházející z cévního systému OFFICIAL en cs HP:0100753 IAO:0000115 A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7% Duševní porucha charakterizovaná rozpadem myšlenkových procesů a emoční citlivosti. Nejčastěji se projevuje jako sluchové halucinace, paranoidní nebo bizarní bludy nebo dezorganizovaná řeč a myšlení a je doprovázena významnou sociální nebo pracovní dysfunkcí. K nástupu symptomů obvykle dochází v mladé dospělosti, s celosvětovou celoživotní prevalencí asi 0,3–0,7 % OFFICIAL en cs HP:0100754 IAO:0000115 A state of abnormally elevated or irritable mood, arousal, and or energy levels Stav abnormálně zlepšené nebo podrážděné nálady, excitace a nabuzení. OFFICIAL +en cs HP:0100832 IAO:0000115 Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent Depozitá různé velikosti, tvaru, konzistence, refrakčního indexu a pohyblivosti v rámci očního sklivce, který je za normálních okolností průhledný. OFFICIAL en cs HP:0100851 IAO:0000115 An abnormality of emotional behaviour Abnormalita emočního chování OFFICIAL en cs HP:0100851 rdfs:label Abnormal emotion/affect behavior Abnormální emoce/afektivní chování OFFICIAL en cs HP:0100852 IAO:0000115 An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response Abnormalita strachu nebo s úzkostí souvisejícího chování, které zahrňuje buďto abnormální snížení strachu a úzkostní odpovědi nebo naopak abnormální vystupňování strachu a úzkostní odpovědi. OFFICIAL en cs HP:0100852 rdfs:label Abnormal fear/anxiety-related behavior Abnormální chování související se strachem/úzkostí OFFICIAL en cs HP:0100889 rdfs:label Abnormality of the ductus choledochus Abnormalita ductus choledochus OFFICIAL +en cs HP:0100962 rdfs:label Shyness Plachost OFFICIAL en cs HP:0200000 rdfs:label Dysharmonic bone age Disharmonický kostní věk OFFICIAL en cs HP:0410003 rdfs:label Cleft maxillary alveolus Rozštěp maxilárního alveolu OFFICIAL en cs HP:0410051 IAO:0000115 An increase in the level of 3-hydroxy-3-methylglutaric acid in the urine Zvýšení hladiny kyseliny 3-hydroxy-3-methylglutarové v moči CANDIDATE @@ -749,12 +915,22 @@ en cs HP:0410146 IAO:0000115 An increase in biotinidase level, an enzyme that re en cs HP:0410146 rdfs:label Increased biotinidase level Zvýšená aktivita biotinidázy CANDIDATE en cs HP:0410153 IAO:0000115 An increase in the level of methylsuccinic acid in the urine Zvýšení hladiny kyseliny methylsukcinové v moči. OFFICIAL en cs HP:0410176 rdfs:label Abnormal glucose-6-phosphate dehydrogenase level Abnormální hladina glukóza-6-fosfátdehydrogenázy OFFICIAL +en cs HP:0410192 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level Abnormální aktivita uridin difosfát glukóza-4-epimerázy CANDIDATE +en cs HP:0410193 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level in plasma Abnormální aktivita uridin difosfát glukóza-4-epimerázy v plazmě CANDIDATE +en cs HP:0410194 rdfs:label Increased uridine diphosphate glucose-4-epimerase level in plasma Zvýšená aktivita uridindifosfátglukóza-4-epimerázy v plazmě CANDIDATE +en cs HP:0410195 rdfs:label Decreased uridine diphosphate glucose-4-epimerase level in plasma Snížená aktivita uridindifosfátglukóza-4-epimerázy v plazmě CANDIDATE +en cs HP:0410196 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells Abnormální aktivita uridin difosfát glukóza-4-epimerázy v červených krvinkách CANDIDATE +en cs HP:0410197 rdfs:label Increased uridine diphosphate glucose-4-epimerase level in red blood cells Zvýšená aktivita uridindifosfátglukóza-4-epimerázy v červených krvinkách CANDIDATE +en cs HP:0410198 rdfs:label Decreased uridine diphosphate glucose-4-epimerase level in red blood cells Snížená aktivita uridindifosfátglukóza-4-epimerázy v červených krvinkách CANDIDATE en cs HP:0410280 IAO:0000115 Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset Nástup projevů onemocnění před dospělostí, zde definováno jako před dosažením věku 15 let, ale s vyloučením novorozeneckého období OFFICIAL en cs HP:0410309 IAO:0000115 A increased concentration of alpha-aminoadipic acid in the urine Zvýšená koncentrace kyseliny alfa-aminoadipové v moči CANDIDATE en cs HP:0410325 rdfs:label House dust mite allergy Alergie na prachové roztoče CANDIDATE en cs HP:0410350 IAO:0000115 An abnormal increase in the concentrationl of small fucosylated oligosaccharides in the urine Abnormální zvýšení koncentrace malých fukosylovaných oligosacharidů v moči CANDIDATE en cs HP:0500046 IAO:0000115 Inflamation of the eyelid due to overactivity of the sebaceous gland Zánět očního víčka způsobený nadměrnou aktivitou mazové žlázy. OFFICIAL +en cs HP:0500070 IAO:0000115 A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus Léze konjunktivy tvořená tukovou tkání a hustou pojivovou tkání. Tento typ choristomu složeného z kožních elementů se normálně vyskytuje při vnějším kantu a má gelatinózní vzhled. Klasicky mívá nejasnou zadní hranici (léze často expanduje do orbity) a jasně ohraničenou přední část, několik milimetrů za limbem. OFFICIAL +en cs HP:0500086 IAO:0000115 Having a characteristic appearance of a slate gray area of pigmentation within the disc margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas Charakteristický vzhled břidlicově šedé oblasti pigmentace v rámci okrajů disku, která se běžně objevuje podél inferotemporálního nebo temporálního neuroretinálního okraje. OFFICIAL en cs HP:0500089 IAO:0000115 A benign tumour of meningothelial cells of the meninges that usually occurs in middle age. It is typically unilateral and there is an association with neurofibromatosis type 2 Nezhoubný nádor z meningoteliálních buněk mozkových blan, který se obvykle vyskytuje ve středním věku. Je typicky jednostranný a existuje souvislost s neurofibromatózou typu 2 OFFICIAL +en cs HP:0500091 IAO:0000115 A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva manoeuvre. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to haemorrhage Hamartom lymfatických cest obvykle se vyskytující v dětství. Mívá tendenci zvěšit se při poloze s hlavou dolů a s Valsalvovým manévrem. Povrchové léze vypadají jako prosvítitelné cystické prostory víčka nebo spojivky a můžou obsahovat krev. Hluboké léze můžou způsobovat graduální proptózu či prezentovat se jako akutní orbitální bolest a omezení vidění z důvodu krvácení. OFFICIAL en cs HP:0500092 IAO:0000115 A mesenchymal tumour that is considered to be the commonest primary orbital malignancy in children. Histologically, it may be differentiated into embryonal, alveolar, and pleomorphic types. It is usually intraconal or within the superior orbit Mezenchymální nádor, který je považován za nejčastější primární malignitu orbity u dětí. Histologicky lze rozlišit na typy embryonální, alveolární a pleomorfní. Obvykle se nachází intrakonálně nebo v horní části orbity OFFICIAL en cs HP:0500149 IAO:0000115 An increased amount of glutamate in the blood Zvýšené množství glutamátu v krvi OFFICIAL en cs HP:0500161 IAO:0000115 An increased amount of carnosine in the blood Zvýšené množství karnosinu v krvi OFFICIAL @@ -762,10 +938,14 @@ en cs HP:0500161 rdfs:label Increased level of carnosine in blood Zvýšená hla en cs HP:0500162 rdfs:label Decreased level of carnosine in blood Snížená hladina karnosinu v krvi OFFICIAL en cs HP:0500210 IAO:0000115 Abnormally increased levels of methionine in cerebrospinal fluid Abnormálně zvýšená hladina methioninu v mozkomíšním moku CANDIDATE en cs HP:0500248 IAO:0000115 Abnormally increased levels of alpha-aminobutyrate in cerebrospinal fluid Abnormálně zvýšené hladiny alfa-aminobutyrátu v mozkomíšním moku CANDIDATE +en cs HP:3000004 IAO:0000115 An abnormality of a frontalis muscle belly Abnormalita předního bříška musculus occipitofrontalis zvaného musculus frontalis. OFFICIAL +en cs HP:3000004 rdfs:label Abnormality of frontalis muscle belly Abnormalita musculus frontalis OFFICIAL +en cs HP:4000008 IAO:0000115 Pronuclei formation is a critical process during fertilisation. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilisation. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilisation with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI Tvorba prvojader je kritickým procesem během oplodnění. Normálně jsou v zygotě po oplodnění dvě prvojádra (2PN), tedy otcovské a mateřské. Obecně se uznává, že tvorba mnohočetných prvojader (MPN) je způsobena abnormální extruzí druhého polárního tělíska nebo abnormálním oplodněním více spermiemi. MPN proto může způsobit neplodnost a opakované selhání IVF/ICSI CANDIDATE en cs HP:4000009 IAO:0000115 An excessive, irrational and debilitating fear to carry out a physical movement, due to a feeling of vulnerability to a painful injury or reinjury Nadměrný, iracionální a debilitující strach provést fyzický pohyb kvůli pocitu zranitelnosti vůči bolestivému insultu nebo opětovnému zranění. CANDIDATE en cs HP:4000020 IAO:0000115 Bullous pemphigoid (BP) is an autoimmune disease associated with subepidermal blistering due to autoantibodies directed against BP180 and BP230. BP180 is currently considered as the major pathogenic autoantigen Bulózní pemfigoid (BP) je autoimunitní onemocnění spojené se subepidermálními puchýři způsobenými autoprotilátkami namířenými proti BP180 a BP230. BP180 je v současnosti považován za hlavní patogenní autoantigen. CANDIDATE en cs HP:4000025 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against an integrin. Integrins are a family of cell adhesion moleculeswith 24 known integrin heterodimers. Integrins transduce mechanical and biochemical signals from fibrotic extracellular matrix into the cell, activate latent TGFbeta, and subsequently modulate fibroblast adhesion, migration, and growth Přítomnost autoprotilátek (imunoglobulinů) v séru, které reagují proti integrinu. Integriny jsou rodinou buněčných adhezních molekul s 24 známými integrinovými heterodimery. Integriny přenášejí mechanické a biochemické signály z fibrózní extracelulární matrix do buňky, aktivují latentní TGFbeta a následně modulují adhezi, migraci a růst fibroblastů. CANDIDATE en cs HP:4000034 rdfs:label Infection-ssociated lymphopenia Lymfopenie asociovaná s infekcí CANDIDATE +en cs HP:4000056 IAO:0000115 Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterised by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighbouring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response Jakákoli abnormalita programované buněčné smrti (apoptózy), která je definována jako organizovaný zánik buňky charakterizovaný blebbingem membrány (vznikem nepravidelných záhybů), smršťováním buňky, kondenzací chromatinu a fragmentací DNA, po níž následuje rychlé pohlcení zbylého materiálu sousedními buňkami. Apoptóza se od smrti nekrózou liší absencí související zánětlivé reakce. CANDIDATE en cs HP:4000058 IAO:0000115 A type of proteinuria characterized by increased permeability of the glomerular capillary wall to macromolecules (particularly albumin), whereby protein excretion can reach 20 g/24 h and consists mainly of albumin. nPMID: 19634399 Typ proteinurie charakterizovaný zvýšenou permeabilitou glomerulární kapilární stěny pro makromolekuly (zejména albumin), přičemž exkrece proteinu může dosáhnout 20 g/24 h a skládá se převážně z albuminu. nPMID: 19634399 CANDIDATE en cs HP:4000069 IAO:0000115 A type of abnormal interest characterized by a persistent and intense focus in parts of a toy/object. For examples, affected individuals may spin the wheels on a toy car rather than driving the toy car Typ abnormálního zájmu charakterizovaný trvalým a intenzivním zaměřením na části hračky/předmětu. Postižení jedinci mohou například roztáčet kola na autíčku, spíše než řídit autíčko. CANDIDATE en cs HP:4000070 rdfs:label Circumscribed interests Omezené zájmy CANDIDATE diff --git a/src/translations/hp-cs-not-translated.babelon.tsv b/src/translations/hp-cs-not-translated.babelon.tsv index 33e689c54..b5072c7e7 100644 --- a/src/translations/hp-cs-not-translated.babelon.tsv +++ b/src/translations/hp-cs-not-translated.babelon.tsv @@ -539,7 +539,7 @@ en Shoulder abduction contracture HP:0034990 rdfs:label cs NOT_TRANSLATED en Shoulder external rotation contracture HP:0034991 rdfs:label cs NOT_TRANSLATED en Thumb adduction contracture HP:0034992 rdfs:label cs NOT_TRANSLATED en Hip internal rotation contracture HP:0034993 rdfs:label cs NOT_TRANSLATED -en Reduced hepatic fructose-1,6-bisphosphatase activity HP:0034995 rdfs:label cs NOT_TRANSLATED +en Reduced tissue fructose-1,6-bisphosphatase activity HP:0034995 rdfs:label cs NOT_TRANSLATED en Reduced hepatic carbamoylphosphate synthetase 1 activity HP:0034996 rdfs:label cs NOT_TRANSLATED en Reduced intraepidermal small nerve fiber density HP:0034997 rdfs:label cs NOT_TRANSLATED en Femoral artery duplication HP:0034998 rdfs:label cs NOT_TRANSLATED @@ -710,6 +710,14 @@ en Positive CSF pathogen-specific antibody positivity HP:0430139 rdfs:label cs en Positive CSF nucleic acid pathogen test HP:0430140 rdfs:label cs NOT_TRANSLATED en Positive CSF varicella zoster antibody positivity HP:0430141 rdfs:label cs NOT_TRANSLATED en Reduced circulating interleukin 6 concentration HP:0430142 rdfs:label cs NOT_TRANSLATED +en Elevated circulating C12 acylcarnitine concentration HP:0430143 rdfs:label cs NOT_TRANSLATED +en Frontalis muscle overactivity HP:0430144 rdfs:label cs NOT_TRANSLATED +en Nasal dermoid cyst HP:0430145 rdfs:label cs NOT_TRANSLATED +en Elevated circulating complement C3 concentration HP:0430146 rdfs:label cs NOT_TRANSLATED +en Abnormal circulating inhibin B concentration HP:0430147 rdfs:label cs NOT_TRANSLATED +en Abnormal circulating lipoprotein(a) concentration HP:0430148 rdfs:label cs NOT_TRANSLATED +en Positive blood infectious agent test HP:0430150 rdfs:label cs NOT_TRANSLATED +en Positive respiratory tract infectious agent test HP:0430151 rdfs:label cs NOT_TRANSLATED en Decreased Succinyl-CoA 3-ketoacid CoA transferase activity HP:4000162 rdfs:label cs NOT_TRANSLATED en Reduced phytanic acid oxidase activity in cultured fibroblasts HP:4000163 rdfs:label cs NOT_TRANSLATED en Reduced bifunctional protein activity HP:4000164 rdfs:label cs NOT_TRANSLATED @@ -777,9 +785,9 @@ en Ambiguous facial expression HP:5200013 rdfs:label cs NOT_TRANSLATED en Exaggerated facial expression HP:5200014 rdfs:label cs NOT_TRANSLATED en Muted facial expression HP:5200015 rdfs:label cs NOT_TRANSLATED en Abnormal peer relationships HP:5200016 rdfs:label cs NOT_TRANSLATED -en Abnormal movements of face and head HP:5200017 rdfs:label cs NOT_TRANSLATED -en Abnormal movements of the upper extremities HP:5200018 rdfs:label cs NOT_TRANSLATED -en Abnormal movements of the whole body HP:5200019 rdfs:label cs NOT_TRANSLATED +en Steroetypic movements of face and head HP:5200017 rdfs:label cs NOT_TRANSLATED +en Steroetypic upper-extremity movements HP:5200018 rdfs:label cs NOT_TRANSLATED +en Stereotypic whole-body movements HP:5200019 rdfs:label cs NOT_TRANSLATED en Abnormal interest in others HP:5200020 rdfs:label cs NOT_TRANSLATED en Reduced social insight HP:5200021 rdfs:label cs NOT_TRANSLATED en Reduced awareness of convention HP:5200022 rdfs:label cs NOT_TRANSLATED @@ -791,7 +799,7 @@ en Social disinhibition HP:5200029 rdfs:label cs NOT_TRANSLATED en Diminished integration of verbal and non-verbal communicative behavior HP:5200030 rdfs:label cs NOT_TRANSLATED en Reduced cooperative imaginative play HP:5200035 rdfs:label cs NOT_TRANSLATED en Reduced responsiveness to verbal cues HP:5200036 rdfs:label cs NOT_TRANSLATED -en Lack of expressed empath HP:5200037 rdfs:label cs NOT_TRANSLATED +en Lack of expressed empathy HP:5200037 rdfs:label cs NOT_TRANSLATED en Bradylalia HP:5200038 rdfs:label cs NOT_TRANSLATED en Excessively loud speech HP:5200039 rdfs:label cs NOT_TRANSLATED en Excessively quiet voice HP:5200040 rdfs:label cs NOT_TRANSLATED @@ -881,7 +889,7 @@ en Hypervigilance HP:5200231 rdfs:label cs NOT_TRANSLATED en Phobia HP:5200232 rdfs:label cs NOT_TRANSLATED en Anticipatory anxiety HP:5200233 rdfs:label cs NOT_TRANSLATED en Flight of ideas HP:5200234 rdfs:label cs NOT_TRANSLATED -en Thought disorder HP:5200235 rdfs:label cs NOT_TRANSLATED +en Disorganized speech or communication HP:5200235 rdfs:label cs NOT_TRANSLATED en Pronunciation difficulties HP:5200237 rdfs:label cs NOT_TRANSLATED en Vowel expressive impediment HP:5200238 rdfs:label cs NOT_TRANSLATED en Consonant expressive impediment HP:5200239 rdfs:label cs NOT_TRANSLATED @@ -1227,7 +1235,7 @@ en Prosthetic heart valve HP:6000227 rdfs:label cs NOT_TRANSLATED en Failure to increase oxygen saturation on hyperoxia test HP:6000228 rdfs:label cs NOT_TRANSLATED en High-set nipples HP:6000229 rdfs:label cs NOT_TRANSLATED en Decreased muscle caveolin-3 level HP:6000230 rdfs:label cs NOT_TRANSLATED -en Abnormal tissue enzyme activity HP:6000231 rdfs:label cs NOT_TRANSLATED +en Abnormal tissue enzyme concentration or activity HP:6000231 rdfs:label cs NOT_TRANSLATED en Splenic necrosis HP:6000232 rdfs:label cs NOT_TRANSLATED en Carcinoid tumor of the pancreas HP:6000233 rdfs:label cs NOT_TRANSLATED en Elevated circulating dihydroxyphenylacetic acid concentration HP:6000234 rdfs:label cs NOT_TRANSLATED @@ -1445,5 +1453,250 @@ en Elevated thallium cadmiun concentration HP:6000445 rdfs:label cs NOT_TRANSLA en Abnormal circulating CC chemokine concentration HP:6000446 rdfs:label cs NOT_TRANSLATED en Decreased CSF asialotransferrin to transferrin ratio HP:6000447 rdfs:label cs NOT_TRANSLATED en Anti-desmocollin antibody positivity HP:6000448 rdfs:label cs NOT_TRANSLATED +en Occupational exposure to raw nonsynthetic textiles HP:6000449 rdfs:label cs NOT_TRANSLATED +en Rokitansky-Aschoff gallbladder sinuses HP:6000450 rdfs:label cs NOT_TRANSLATED +en Porcelain gallbladder HP:6000451 rdfs:label cs NOT_TRANSLATED +en Gallbladder adhesions HP:6000452 rdfs:label cs NOT_TRANSLATED +en Bilioduodenal fistula HP:6000453 rdfs:label cs NOT_TRANSLATED +en Pneumobilia HP:6000454 rdfs:label cs NOT_TRANSLATED +en Ectopic gallstone HP:6000455 rdfs:label cs NOT_TRANSLATED +en Sleep drunkeness HP:6000456 rdfs:label cs NOT_TRANSLATED +en Mallory bodies HP:6000457 rdfs:label cs NOT_TRANSLATED +en Sulfur-containing abscess HP:6000458 rdfs:label cs NOT_TRANSLATED +en Retracted tympanic membrane HP:6000459 rdfs:label cs NOT_TRANSLATED +en Ectopic testis HP:6000460 rdfs:label cs NOT_TRANSLATED +en Cerebral subcortical cyst HP:6000461 rdfs:label cs NOT_TRANSLATED +en Anti-ADAMTS13 antibody positivity HP:6000462 rdfs:label cs NOT_TRANSLATED +en Habitual mouth breathing HP:6000463 rdfs:label cs NOT_TRANSLATED +en Squared off shoulders HP:6000464 rdfs:label cs NOT_TRANSLATED +en Elevated urine mesaconic acid level HP:6000465 rdfs:label cs NOT_TRANSLATED +en Elevated urine 3-methyladipic acid level HP:6000466 rdfs:label cs NOT_TRANSLATED +en Elevated urine D-lactate level HP:6000467 rdfs:label cs NOT_TRANSLATED +en Elevated CSF alpha-ketoglutarate concentration HP:6000468 rdfs:label cs NOT_TRANSLATED +en Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level HP:6000469 rdfs:label cs NOT_TRANSLATED +en Fetal oral mass HP:6000470 rdfs:label cs NOT_TRANSLATED +en Dilated ejaculatory duct HP:6000471 rdfs:label cs NOT_TRANSLATED +en Decreased Wiskott-Aldrich syndrome protein concentration in hematopoietic cells HP:6000472 rdfs:label cs NOT_TRANSLATED +en Decreased FOXP3-expressing T cell count HP:6000473 rdfs:label cs NOT_TRANSLATED +en Elevated circulating complement component concentration HP:6000474 rdfs:label cs NOT_TRANSLATED +en Anti-beta fodrin antibody positivity HP:6000475 rdfs:label cs NOT_TRANSLATED +en Elevated circulating tetradecenoylcarnitine concentration HP:6000476 rdfs:label cs NOT_TRANSLATED +en Elevated urine 2-trans,4-cis-decadienoylcarnitine level HP:6000477 rdfs:label cs NOT_TRANSLATED +en Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration HP:6000478 rdfs:label cs NOT_TRANSLATED +en Elevated urine N-acetyltyrosine level HP:6000479 rdfs:label cs NOT_TRANSLATED +en Elevated urine manganese level HP:6000480 rdfs:label cs NOT_TRANSLATED +en Reduced urinary manganese level HP:6000481 rdfs:label cs NOT_TRANSLATED +en Decreased circulating catecholamine concentration HP:6000482 rdfs:label cs NOT_TRANSLATED +en Empty sella turcica HP:6000483 rdfs:label cs NOT_TRANSLATED +en Elevated brain guanidinoacetate level by MRS HP:6000484 rdfs:label cs NOT_TRANSLATED +en Elevated circulating beta chorionic gonadotropin concentration HP:6000485 rdfs:label cs NOT_TRANSLATED +en Elevated circulating CXCL10 concentration HP:6000486 rdfs:label cs NOT_TRANSLATED +en Reduced circulating interleukin 12 concentration HP:6000487 rdfs:label cs NOT_TRANSLATED +en Reduced circulating fibroblast growth factor 23 concentration HP:6000488 rdfs:label cs NOT_TRANSLATED +en Abnormal circulating fibroblast growth factor 23 concentration HP:6000489 rdfs:label cs NOT_TRANSLATED +en Impaired heel-walking ability HP:6000490 rdfs:label cs NOT_TRANSLATED +en Anti-prothrombin antibody positivity HP:6000491 rdfs:label cs NOT_TRANSLATED +en Anti-factor V antibody positivity HP:6000492 rdfs:label cs NOT_TRANSLATED +en Anti-factor VII antibody positivity HP:6000493 rdfs:label cs NOT_TRANSLATED +en Anti-factor VIII antibody positivity HP:6000494 rdfs:label cs NOT_TRANSLATED +en Anti-factor IX antibody positivity HP:6000495 rdfs:label cs NOT_TRANSLATED +en Anti-factor X antibody positivity HP:6000496 rdfs:label cs NOT_TRANSLATED +en Anti-factor XI antibody positivity HP:6000497 rdfs:label cs NOT_TRANSLATED +en Anti-factor XIII antibody positivity HP:6000498 rdfs:label cs NOT_TRANSLATED +en Anti-factor H antibody positivity HP:6000499 rdfs:label cs NOT_TRANSLATED +en Extremities cold to touch HP:6000500 rdfs:label cs NOT_TRANSLATED +en Ruffled acrosome HP:6000501 rdfs:label cs NOT_TRANSLATED +en Elevated circulating calprotectin concentration HP:6000502 rdfs:label cs NOT_TRANSLATED +en 4-5 toe cutaneous syndactyly HP:6000503 rdfs:label cs NOT_TRANSLATED +en Poly-hill sign HP:6000504 rdfs:label cs NOT_TRANSLATED +en 3-5 finger cutaneous syndactyly HP:6000505 rdfs:label cs NOT_TRANSLATED +en Radioulnar subluxation HP:6000506 rdfs:label cs NOT_TRANSLATED +en Non-pitting edema HP:6000507 rdfs:label cs NOT_TRANSLATED +en Anti-human ferritin peptide antibody positivity HP:6000508 rdfs:label cs NOT_TRANSLATED +en Elevated CSF L-2-hydroxyglutaric acid concentration HP:6000509 rdfs:label cs NOT_TRANSLATED +en Elevated erythrocyte inosine triphosphate concentration HP:6000510 rdfs:label cs NOT_TRANSLATED +en Reduced erythrocyte inosine triphosphatase activity HP:6000511 rdfs:label cs NOT_TRANSLATED +en Reduced circulating alpha-1,3-fucosyltransferase activity HP:6000512 rdfs:label cs NOT_TRANSLATED +en Diminished neutrophil myeloperoxidase activity HP:6000513 rdfs:label cs NOT_TRANSLATED +en Reduced erythrocyte uroporphyrinogen III cosynthase activity HP:6000514 rdfs:label cs NOT_TRANSLATED +en Elevated 18-hydroxycorticosterone to aldosterone ratio HP:6000515 rdfs:label cs NOT_TRANSLATED +en Elevated circulating 21-deoxycortisol concentration HP:6000516 rdfs:label cs NOT_TRANSLATED +en Elevated monolysocardiolipin/cardiolipin ratio HP:6000517 rdfs:label cs NOT_TRANSLATED +en Low maternal vitamin B12 concentration HP:6000518 rdfs:label cs NOT_TRANSLATED +en Elevated circulating inhibin A concentration HP:6000519 rdfs:label cs NOT_TRANSLATED +en Increased circulating inhibin B concentration HP:6000520 rdfs:label cs NOT_TRANSLATED +en Elevated circulating lipoprotein(a) concentration HP:6000521 rdfs:label cs NOT_TRANSLATED +en Reduced circulating lipoprotein(a) concentration HP:6000522 rdfs:label cs NOT_TRANSLATED +en Increased urinary bile acid level HP:6000523 rdfs:label cs NOT_TRANSLATED +en Abnormal urinary bile acid level HP:6000524 rdfs:label cs NOT_TRANSLATED +en Reduced erythrocyte glutathione reductase activity HP:6000525 rdfs:label cs NOT_TRANSLATED +en Failure to elevate lactate upon ischemic exercise test HP:6000526 rdfs:label cs NOT_TRANSLATED +en Elevated circulating cholestanol concentration HP:6000527 rdfs:label cs NOT_TRANSLATED +en Livestock exposure HP:6000528 rdfs:label cs NOT_TRANSLATED +en Synchronous skin lesions HP:6000529 rdfs:label cs NOT_TRANSLATED +en Serpentine skin location HP:6000530 rdfs:label cs NOT_TRANSLATED +en Abnormal urinary organic compound level HP:6000531 rdfs:label cs NOT_TRANSLATED +en Elevated urinary histamine level HP:6000532 rdfs:label cs NOT_TRANSLATED +en Elevated urinary N-methylhistamine level HP:6000533 rdfs:label cs NOT_TRANSLATED +en Elevated urinary ureidopropionic acid level HP:6000534 rdfs:label cs NOT_TRANSLATED +en Elevated urinary porphyrin level HP:6000535 rdfs:label cs NOT_TRANSLATED +en Elevated urinary coproporphyrin level HP:6000536 rdfs:label cs NOT_TRANSLATED +en Ecrrine sweat gland predominance HP:6000537 rdfs:label cs NOT_TRANSLATED +en Poorly demarcated skin lesion HP:6000538 rdfs:label cs NOT_TRANSLATED +en History of recent cat bite HP:6000539 rdfs:label cs NOT_TRANSLATED +en History of recent stay in area with inadequate sewage sanitation HP:6000540 rdfs:label cs NOT_TRANSLATED +en Positive cutaneous herpes simplex virus nucleic acid test HP:6000541 rdfs:label cs NOT_TRANSLATED +en Positive CSF mycobacterium tuberculosis nucleic acid test HP:6000542 rdfs:label cs NOT_TRANSLATED +en Posiitive mycobacterium CSF culture HP:6000543 rdfs:label cs NOT_TRANSLATED +en Positive mycobacterium CSF microscopy HP:6000544 rdfs:label cs NOT_TRANSLATED +en Positive treponema pallidum PCR test in the blood circulation HP:6000545 rdfs:label cs NOT_TRANSLATED +en Positive human Immunodeficiency virus nucleic acid test in the blood circulation HP:6000546 rdfs:label cs NOT_TRANSLATED +en Positive CSF enterovirus nucleic acid test HP:6000547 rdfs:label cs NOT_TRANSLATED +en Positive CSF Borrelia burgdorferi nucleic acid test HP:6000548 rdfs:label cs NOT_TRANSLATED +en Positive CSF arbovirus nucleic acid test HP:6000549 rdfs:label cs NOT_TRANSLATED +en Positive Bartonella henselae nucleic acid test in the blood circulation HP:6000550 rdfs:label cs NOT_TRANSLATED +en Positive Dengue virus PCR test in the blood circulation HP:6000551 rdfs:label cs NOT_TRANSLATED +en Positive CSF JC-virus nucleic acid test HP:6000552 rdfs:label cs NOT_TRANSLATED +en Bloodstream Malaria parasite HP:6000553 rdfs:label cs NOT_TRANSLATED +en Positive bloodstream plasmodium falciparum nucleic acid pathogen test HP:6000554 rdfs:label cs NOT_TRANSLATED +en Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity HP:6000555 rdfs:label cs NOT_TRANSLATED +en Reduced circulating dopamine beta-hydroxylase activity HP:6000556 rdfs:label cs NOT_TRANSLATED +en Reduced erythrocyte bisphosphoglycerate mutase activity HP:6000557 rdfs:label cs NOT_TRANSLATED +en Reduced erythrocyte adenylate kinase activity HP:6000558 rdfs:label cs NOT_TRANSLATED +en Reduced erythrocyte hexokinase activity HP:6000559 rdfs:label cs NOT_TRANSLATED +en Decreased circulating carboxypeptidase N activity HP:6000560 rdfs:label cs NOT_TRANSLATED +en Elevated red cell pyruvate kinase activity HP:6000561 rdfs:label cs NOT_TRANSLATED +en Reduced circulating adenosine deaminase-2 activity HP:6000562 rdfs:label cs NOT_TRANSLATED +en Reduced sepiapterin reductase activity in cultured fibroblasts HP:6000563 rdfs:label cs NOT_TRANSLATED +en Elevated circulating vasoactive intestinal peptide concentration HP:6000564 rdfs:label cs NOT_TRANSLATED +en Elevated circulating cholesterol sulfate concentration HP:6000565 rdfs:label cs NOT_TRANSLATED +en Elevated circulating lipoprotein X concentration HP:6000566 rdfs:label cs NOT_TRANSLATED +en Elevated circulating oxalate concentration HP:6000567 rdfs:label cs NOT_TRANSLATED +en Elevated blood ethylene glycol concentration HP:6000568 rdfs:label cs NOT_TRANSLATED +en Midline notching of lower lip HP:6000569 rdfs:label cs NOT_TRANSLATED +en Reduced tissue thymidine phosphorylase activity HP:6000570 rdfs:label cs NOT_TRANSLATED +en Reduced tissue tripeptidyl peptidase 1 activity HP:6000571 rdfs:label cs NOT_TRANSLATED +en Reduced tissue arginine:glycine amidinotransferase activity HP:6000572 rdfs:label cs NOT_TRANSLATED +en Reduced tissue aspartylglucosaminidase activity HP:6000573 rdfs:label cs NOT_TRANSLATED +en Reduced tissue carnitine-acylcarnitine translocase activity HP:6000574 rdfs:label cs NOT_TRANSLATED +en Reduced circulating 6-pyruvoyltetrahydropterin synthase activity HP:6000575 rdfs:label cs NOT_TRANSLATED +en Reduced tissue mannosyl-oligosaccharide glucosidase activity HP:6000576 rdfs:label cs NOT_TRANSLATED +en Reduced tissue 3-methylglutaconyl-CoA hydratase activity HP:6000577 rdfs:label cs NOT_TRANSLATED +en Reduced tissue gamma-glutamyltransferase activity HP:6000578 rdfs:label cs NOT_TRANSLATED +en Positive oropharangeal infectious agent test HP:6000579 rdfs:label cs NOT_TRANSLATED +en Positive oropharynx poliovirus nucleic acid test HP:6000580 rdfs:label cs NOT_TRANSLATED +en Positive synonvial fluid infectious agent test HP:6000581 rdfs:label cs NOT_TRANSLATED +en Positive synonvial fluid culture HP:6000582 rdfs:label cs NOT_TRANSLATED +en Positive synovial fluid gram stain HP:6000583 rdfs:label cs NOT_TRANSLATED +en Anti Parvovirus antibody positivity HP:6000584 rdfs:label cs NOT_TRANSLATED +en Brain parenchymal tuberculoma HP:6000585 rdfs:label cs NOT_TRANSLATED +en Muscle arteriovenous malformation HP:6000586 rdfs:label cs NOT_TRANSLATED +en Bone arteriovenous malformation HP:6000587 rdfs:label cs NOT_TRANSLATED +en Periosteal elevation HP:6000588 rdfs:label cs NOT_TRANSLATED +en Esophageal dilation HP:6000589 rdfs:label cs NOT_TRANSLATED +en Spinal lipoma HP:6000590 rdfs:label cs NOT_TRANSLATED +en Loose body in joint HP:6000591 rdfs:label cs NOT_TRANSLATED +en Paraspinal arteriovenous malformation HP:6000592 rdfs:label cs NOT_TRANSLATED +en Supernumerary tarsal bone HP:6000593 rdfs:label cs NOT_TRANSLATED +en Maxillary cyst HP:6000594 rdfs:label cs NOT_TRANSLATED +en Mandibular cyst HP:6000595 rdfs:label cs NOT_TRANSLATED +en Sixth cranial nerve hypoplasia HP:6000596 rdfs:label cs NOT_TRANSLATED +en Third cranial nerve hypoplasia HP:6000597 rdfs:label cs NOT_TRANSLATED +en Elevated urinary succinylacetone level HP:6000598 rdfs:label cs NOT_TRANSLATED +en Elevated urinary 2-oxoisocaproic level HP:6000599 rdfs:label cs NOT_TRANSLATED +en Elevated urinary 2-oxovaleric acid level HP:6000600 rdfs:label cs NOT_TRANSLATED +en Elevated urinary 2-hydroxyisocaproic acid level HP:6000601 rdfs:label cs NOT_TRANSLATED +en Elevated urinary isovalerylglycine level HP:6000602 rdfs:label cs NOT_TRANSLATED +en Elevated urinary 2-methyl-3-hydroxybutyric acid level HP:6000603 rdfs:label cs NOT_TRANSLATED +en Elevated urinary 3-hydroxypentanoic acid level HP:6000604 rdfs:label cs NOT_TRANSLATED +en Elevated urinary 7-hydroxyoctanoic acid level HP:6000605 rdfs:label cs NOT_TRANSLATED +en Elevated urinary D-glyceric acid level HP:6000606 rdfs:label cs NOT_TRANSLATED +en Elevated urinary 3-hydroxyisobutyric acid level HP:6000607 rdfs:label cs NOT_TRANSLATED +en Elevated urinary 3,4-Dihydroxybutyric acid level HP:6000608 rdfs:label cs NOT_TRANSLATED +en Elevated urinary 3-hydroxyadipic acid level HP:6000609 rdfs:label cs NOT_TRANSLATED +en Elevated erythrocyte galactose-1-phosphate concentration HP:6000610 rdfs:label cs NOT_TRANSLATED +en Elevated circulating chitotriosidase activity HP:6000611 rdfs:label cs NOT_TRANSLATED +en Squamosal suture synostosis HP:6000612 rdfs:label cs NOT_TRANSLATED +en Enlarged fetal lungs HP:6000613 rdfs:label cs NOT_TRANSLATED +en Orbital inflammation HP:6000614 rdfs:label cs NOT_TRANSLATED +en Reduced Inositol polyphosphate 5-phosphatase OCRL-1 activity in cultured fibroblasts HP:6000615 rdfs:label cs NOT_TRANSLATED +en Reduced muscle glycogen debrancher enzyme activity HP:6000616 rdfs:label cs NOT_TRANSLATED +en Reduced tissue UDP-glucuronyl-transferase activity HP:6000617 rdfs:label cs NOT_TRANSLATED +en Temporal artery giant cells HP:6000618 rdfs:label cs NOT_TRANSLATED +en Reduced phosphoenolpyruvate carboxykinase activity in cultured fibroblasts HP:6000619 rdfs:label cs NOT_TRANSLATED +en Elevated urinary pyrroline hydroxycarboxylic acid level HP:6000620 rdfs:label cs NOT_TRANSLATED +en Elevated urinary N-tau-ribosylhistidine level HP:6000621 rdfs:label cs NOT_TRANSLATED +en Elevated urinary ureidoisobutyric acid level HP:6000622 rdfs:label cs NOT_TRANSLATED +en Elevated urinary N-carbamyl-beta-aminoisobutyric acid level HP:6000623 rdfs:label cs NOT_TRANSLATED +en Nipple epidermal Paget cells HP:6000624 rdfs:label cs NOT_TRANSLATED +en Penile corporal blood gas ischemia HP:6000625 rdfs:label cs NOT_TRANSLATED +en Recent temporal region trauma HP:6000626 rdfs:label cs NOT_TRANSLATED +en Rest limb pain HP:6000627 rdfs:label cs NOT_TRANSLATED +en Scalloped appearance of liver surface HP:6000628 rdfs:label cs NOT_TRANSLATED +en Nipple thickening HP:6000629 rdfs:label cs NOT_TRANSLATED +en Hypoechoic breast mass HP:6000630 rdfs:label cs NOT_TRANSLATED +en Unilocular ovarian cyst HP:6000631 rdfs:label cs NOT_TRANSLATED +en Mesenteric torsion HP:6000632 rdfs:label cs NOT_TRANSLATED +en High-pitched bowel sounds HP:6000633 rdfs:label cs NOT_TRANSLATED +en Exacerbated by opiate medication HP:6000634 rdfs:label cs NOT_TRANSLATED +en Breast granuloma HP:6000635 rdfs:label cs NOT_TRANSLATED +en Exposure to cosmetic fragrances HP:6000636 rdfs:label cs NOT_TRANSLATED +en Sweating and flushing in the preauricular area in response to mastication HP:6000637 rdfs:label cs NOT_TRANSLATED +en Reduced hepatic glyoxylate reductase activity HP:6000638 rdfs:label cs NOT_TRANSLATED +en PAS-positive lymphocyte vacuolization HP:6000639 rdfs:label cs NOT_TRANSLATED +en Lipid-laden bone-marrow macrophages HP:6000640 rdfs:label cs NOT_TRANSLATED +en Bone marrow monocytosis HP:6000641 rdfs:label cs NOT_TRANSLATED +en Sunflower cataract HP:6000642 rdfs:label cs NOT_TRANSLATED +en Anti-lamin A antibody positivity HP:6000643 rdfs:label cs NOT_TRANSLATED +en Anti-lamin C antibody positivity HP:6000644 rdfs:label cs NOT_TRANSLATED +en Anti-vinculin antibody positivity HP:6000645 rdfs:label cs NOT_TRANSLATED +en Anti-annexin A5 antibody positivity HP:6000646 rdfs:label cs NOT_TRANSLATED +en Bulging fontanelle HP:6000647 rdfs:label cs NOT_TRANSLATED +en 3-4 toe cutaneous syndactyly HP:6000648 rdfs:label cs NOT_TRANSLATED +en Triangular nail HP:6000649 rdfs:label cs NOT_TRANSLATED +en Distal tibiofibular synostosis HP:6000650 rdfs:label cs NOT_TRANSLATED +en Abnormal metacarpal ossification HP:6000651 rdfs:label cs NOT_TRANSLATED +en Rib spur HP:6000652 rdfs:label cs NOT_TRANSLATED +en Crescent-shaped iliac bone HP:6000653 rdfs:label cs NOT_TRANSLATED +en Abnormal ischium ossification HP:6000654 rdfs:label cs NOT_TRANSLATED +en Femoral neck fracture HP:6000655 rdfs:label cs NOT_TRANSLATED +en Papillary dermis eosinophilic hyaline material HP:6000656 rdfs:label cs NOT_TRANSLATED +en Pancreatic intraductal papillary mucinous neoplasm HP:6000657 rdfs:label cs NOT_TRANSLATED +en Medium vessel vasculitis HP:6000658 rdfs:label cs NOT_TRANSLATED +en Elevated muscle fiber laminin alpha 5 expression HP:6000659 rdfs:label cs NOT_TRANSLATED +en Paravertebral mass HP:6000660 rdfs:label cs NOT_TRANSLATED +en Phlebolith HP:6000661 rdfs:label cs NOT_TRANSLATED +en Bladder rupture HP:6000662 rdfs:label cs NOT_TRANSLATED +en Elevated myocardial iron load HP:6000663 rdfs:label cs NOT_TRANSLATED +en Right ventricular regional wall motion abnormality HP:6000664 rdfs:label cs NOT_TRANSLATED +en Right ventricular regional akinesia HP:6000665 rdfs:label cs NOT_TRANSLATED +en Right ventricular regional dyskinesia HP:6000666 rdfs:label cs NOT_TRANSLATED +en Right ventricular aneurysm HP:6000667 rdfs:label cs NOT_TRANSLATED +en Glomerular immune-complex deposition HP:6000668 rdfs:label cs NOT_TRANSLATED +en Glomerular PLA2R immune-complex deposition HP:6000669 rdfs:label cs NOT_TRANSLATED +en Elevated urinary L-glycerate level HP:6000670 rdfs:label cs NOT_TRANSLATED +en Breast myxoma HP:6000671 rdfs:label cs NOT_TRANSLATED +en Ovarian cystadenoma HP:6000672 rdfs:label cs NOT_TRANSLATED +en Abnormal CSF N-acetylaspartic acid concentration HP:6000673 rdfs:label cs NOT_TRANSLATED +en Decreased CSF N-acetylaspartic acid concentration HP:6000674 rdfs:label cs NOT_TRANSLATED +en Elevated urinary mevalonate lactone level HP:6000675 rdfs:label cs NOT_TRANSLATED +en Anti-von Willebrand factor antibody positivity HP:6000676 rdfs:label cs NOT_TRANSLATED +en Elevated natural killer cell count HP:6000677 rdfs:label cs NOT_TRANSLATED +en Myositis-specific autoantibody positivity HP:6000678 rdfs:label cs NOT_TRANSLATED +en Abnormal serum osmolality HP:6000679 rdfs:label cs NOT_TRANSLATED +en Low serum osmolality HP:6000680 rdfs:label cs NOT_TRANSLATED +en High serum osmolality HP:6000681 rdfs:label cs NOT_TRANSLATED +en History of compressive dressings HP:6000682 rdfs:label cs NOT_TRANSLATED +en Triggered by overhead motions HP:6000683 rdfs:label cs NOT_TRANSLATED +en Radiating pain HP:6000684 rdfs:label cs NOT_TRANSLATED +en Mitral opening snap HP:6000685 rdfs:label cs NOT_TRANSLATED +en Mucus in stool HP:6000686 rdfs:label cs NOT_TRANSLATED +en Elevated circulating CCL3 concentration HP:6000687 rdfs:label cs NOT_TRANSLATED +en Elevated circulating CCL4 concentration HP:6000688 rdfs:label cs NOT_TRANSLATED +en Elevated CSF 14-3-3 protein concentration HP:6000689 rdfs:label cs NOT_TRANSLATED +en Elevated CSF dihydrobiopterin concentration HP:6000690 rdfs:label cs NOT_TRANSLATED +en Left atrial fibrosis HP:6000691 rdfs:label cs NOT_TRANSLATED +en Abnormal circulating atrial natriuretic peptide pro-hormone concentration HP:6000692 rdfs:label cs NOT_TRANSLATED +en Reduced circulating NT-proANP concentration HP:6000693 rdfs:label cs NOT_TRANSLATED en inheres in RO:0000052 rdfs:label cs NOT_TRANSLATED en inheres in part of RO:0002314 rdfs:label cs NOT_TRANSLATED diff --git a/src/translations/hp-cs-preprocessed.babelon.tsv b/src/translations/hp-cs-preprocessed.babelon.tsv index c7a00c9a1..406214f0c 100644 --- a/src/translations/hp-cs-preprocessed.babelon.tsv +++ b/src/translations/hp-cs-preprocessed.babelon.tsv @@ -616,7 +616,7 @@ en cs HP:0000413 rdfs:label Atresia of the external auditory canal Atrézie zevn en cs HP:0000414 IAO:0000115 Increased volume and globular shape of the anteroinferior aspect of the nose. Zvětšený objem a kulovitý tvar špičky nosu OFFICIAL en cs HP:0000414 rdfs:label Bulbous nose Bulbózní špička nosu OFFICIAL en cs HP:0000415 IAO:0000115 Abnormality of the choanae (the posterior nasal apertures). Abnormalita choan OFFICIAL -en cs HP:0000415 rdfs:label Abnormality of the choanae Abnormalita choan OFFICIAL +en cs HP:0000415 rdfs:label Abnormal choanae morphology Abnormalita choan CANDIDATE en cs HP:0000417 rdfs:label Slender nose Štíhlý nos OFFICIAL en cs HP:0000418 IAO:0000115 Decreased width of the nasal ridge. Zmenšená šířka hřbetu nosu OFFICIAL en cs HP:0000418 rdfs:label Narrow nasal ridge Úzký hřbet nosu OFFICIAL @@ -799,7 +799,7 @@ en cs HP:0000541 IAO:0000115 Separation of the inner layers of the retina (neura en cs HP:0000541 rdfs:label Retinal detachment Odchlípení sítnice OFFICIAL en cs HP:0000542 IAO:0000115 Reduced ability to move the eye in the direction of the nose. Snížená schopnost pohybovat okem směrem k nosu OFFICIAL en cs HP:0000542 rdfs:label Impaired ocular adduction Porucha addukce oka OFFICIAL -en cs HP:0000543 IAO:0000115 A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. Bledě žludá diskolorace optického disku (místo, kde nervus opticus vstupuje do retiny). Standartní je růžovkasté zbarvení s cetrální žlutkastou depresí OFFICIAL +en cs HP:0000543 IAO:0000115 A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. Bledě žludá diskolorace optického disku (místo, kde nervus opticus vstupuje do retiny). Standartní je růžovkasté zbarvení s cetrální žlutkastou depresí CANDIDATE en cs HP:0000543 rdfs:label Optic disc pallor Bledost optického disku OFFICIAL en cs HP:0000544 IAO:0000115 Paralysis of the external ocular muscles. Paralýza zevních okohybních svalů OFFICIAL en cs HP:0000544 rdfs:label External ophthalmoplegia Externí oftalmoplégie OFFICIAL @@ -985,7 +985,7 @@ en cs HP:0000654 IAO:0000115 Descreased amplitude of eletrical response upon ele en cs HP:0000654 rdfs:label Decreased light- and dark-adapted electroretinogram amplitude Porucha adaptace na světlo a tmu nalezena při retinografii OFFICIAL en cs HP:0000656 IAO:0000115 An outward turning (eversion) or rotation of the eyelid margin. Everze (otočení směrem ven) nebo rotace okraje očního víčka OFFICIAL en cs HP:0000656 rdfs:label Ectropion Ektropium OFFICIAL -en cs HP:0000657 IAO:0000115 Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex. Okulomotorická apraxie je porucha dobrovolných a cílených pohybů očí v horizontální rovině a porucha vůlí iniciovaných sakád. Zachované jsou hladké sledovací pohyby očí. Neschopnost pohybu okem se kompenzuje pohybem hlavy. Porušeny ale můžou být i hladké sledovací pohyby a vestibulo-okulární reflex OFFICIAL +en cs HP:0000657 IAO:0000115 Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex. Okulomotorická apraxie je porucha dobrovolných a cílených pohybů očí v horizontální rovině a porucha vůlí iniciovaných sakád. Zachované jsou hladké sledovací pohyby očí. Neschopnost pohybu okem se kompenzuje pohybem hlavy. Porušeny ale můžou být i hladké sledovací pohyby a vestibulo-okulární reflex CANDIDATE en cs HP:0000657 rdfs:label Oculomotor apraxia Okulomotorická apraxie OFFICIAL en cs HP:0000658 rdfs:label Eyelid apraxia Apraxie víček OFFICIAL en cs HP:0000659 IAO:0000115 A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity. Forma dysgeneze předního segmentu. Petersova anomálie se vyznačuje centrálním, paracentrálním, nebo úplným zákalem rohovky OFFICIAL @@ -1021,7 +1021,7 @@ en cs HP:0000680 IAO:0000115 Delayed tooth eruption affecting the primary dentit en cs HP:0000680 rdfs:label Delayed eruption of primary teeth Opožděná erupce mléčných zubů OFFICIAL en cs HP:0000682 IAO:0000115 An abnormality of the dental enamel. Abnormalita skloviny zubu OFFICIAL en cs HP:0000682 rdfs:label Abnormal dental enamel morphology Abnormální morfologie zubní skloviny OFFICIAL -en cs HP:0000683 IAO:0000115 A grey discoloration of the dental enamel. Šedá diskolorace zubní skloviny OFFICIAL +en cs HP:0000683 IAO:0000115 A gray discoloration of the dental enamel. Šedá diskolorace zubní skloviny CANDIDATE en cs HP:0000683 rdfs:label Grayish enamel Šedá sklovina OFFICIAL en cs HP:0000684 IAO:0000115 Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age. Opožděná erupce zubů, kterou můžeme definovat jako erupci v čase pozdějším než 2 SD za průměrným časem OFFICIAL en cs HP:0000684 rdfs:label Delayed eruption of teeth Opožděná erupce zubů OFFICIAL @@ -1092,7 +1092,7 @@ en cs HP:0000729 IAO:0000115 Persistent deficits in social interaction and commu en cs HP:0000729 rdfs:label Autistic behavior Autistické chování OFFICIAL en cs HP:0000732 rdfs:label Inflexible adherence to routines Tvrdošíjné dodržování rutin nebo rituálů CANDIDATE en cs HP:0000733 IAO:0000115 Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose. Stereotypie jsou repetitivní, jednoduché pohyby, které jsou potlačitelné vůlí. Obvykle jsou jednoduchého charakteru, například mávání rukami, a nezahrnují komplexní sekvence či frakce pohybů. Pohyby jsou často, ale ne vždy rytmické, a můžou zahrnovat prsty, zápěstí, či více proximální části horní končetiny. Použití dolních končetin není typické. Častější jsou stereotypie bilaterální než unilaterální CANDIDATE -en cs HP:0000733 rdfs:label Abnormal repetitive mannerisms Motorická stereotypie CANDIDATE +en cs HP:0000733 rdfs:label Motor stereotypy Motorická stereotypie OFFICIAL en cs HP:0000734 IAO:0000115 Reduced ability to control, or a failure to resist a temptation, urge, or impulse. Examples include disregard for social conventions, general impulsivity, and poor risk assessment. Nedostatečná zdrženlivost, projevuje se několika způsoby, včetně ignorování sociálních konvencí, impulzivity a špatného hodnocení rizik CANDIDATE en cs HP:0000734 rdfs:label Disinhibition Disinhibice OFFICIAL en cs HP:0000735 IAO:0000115 Difficulty in social interactions related to an impairment of characteristics such as eye contact, smiling, appropriate facial expressions, and body postures and characterized by difficulty in forming peer relationships and forming friendships Potíže v sociálních interakcích, vyplývající z porušené schopnosti navazovat oční kontakt, snížené schopnosti používat účelně úsměv, vhodné výrazy obličeje či řeč těla, charakterizované obtížemi při navazování vztahů s vrstevníky OFFICIAL @@ -1797,7 +1797,7 @@ en cs HP:0001248 IAO:0000115 Decreased length of the tubular bones of the hand, en cs HP:0001248 rdfs:label Short tubular bones of the hand Krátké tubulární kosti ruky OFFICIAL en cs HP:0001249 IAO:0000115 Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70. Subnormální kognitivní funkce, která vznikla během vývojového období. Intelektová nedostatečnost, dříve označovaná jako mentální retardace je definována jako IQ skóre pod 70 CANDIDATE en cs HP:0001249 rdfs:label Intellectual disability Intelektová nedostatečnost OFFICIAL -en cs HP:0001250 IAO:0000115 A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Křeče (epileptické křeče, epileptický záchvat) jsou přechodnou abnormalitou centrální nervové soustavy způsobenou anormálními výboji mozkových neuronů klinicky charakterizovanou kombinacemi poruch čití, ztráty vědomí, postižení psychických funkcí či křečovitých pohybů. Termín epilepsie se používá k popisu chronických, rekurentních záchvatů CANDIDATE +en cs HP:0001250 IAO:0000115 A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Křeče (epileptické křeče, epileptický záchvat) jsou přechodnou abnormalitou centrální nervové soustavy způsobenou anormálními výboji mozkových neuronů klinicky charakterizovanou kombinacemi poruch čití, ztráty vědomí, postižení psychických funkcí či křečovitých pohybů. Termín epilepsie se používá k popisu chronických, rekurentních záchvatů CANDIDATE en cs HP:0001250 rdfs:label Seizure Křeče OFFICIAL en cs HP:0001251 IAO:0000115 Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). Cerebelární ataxie je ataxie způsobená dysfunkcí mozečku. Tato způsobuje rozličné neurologické defekte jako asynergie (ztráta koordinace mezi svaly, končetinami a klouby), dysmetrie (ztráta schopnosti posoudit vzdálenost - nedotažení či přestřelení pohybu při pokusu uchopit předmět), dysdiadochokineze (neschopnost opakovaně provádět rychlé pohyby vyžadující zapojení antagonistických svalových skupin) CANDIDATE en cs HP:0001251 rdfs:label Ataxia Ataxie OFFICIAL @@ -2612,7 +2612,7 @@ en cs HP:0001898 IAO:0000115 The presence of an increased mass of red blood cell en cs HP:0001898 rdfs:label Increased red blood cell mass Zvýšené množství červených krvinek OFFICIAL en cs HP:0001899 IAO:0000115 An elevation above the normal ratio of the volume of red blood cells to the total volume of blood. Zvýšení poměru objemu červených krvinek k celkovému objemu krve nad normální hodnotu OFFICIAL en cs HP:0001899 rdfs:label Increased hematocrit Zvýšený hematokrit OFFICIAL -en cs HP:0001900 rdfs:label Increased hemoglobin Zvýšený hemoglobín OFFICIAL +en cs HP:0001900 rdfs:label Increased circulating hemoglobin concentration Zvýšený hemoglobín CANDIDATE en cs HP:0001901 IAO:0000115 Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal. Polycytemie je diagnostikována, pokud počet červených krvinek, hladina hemoglobinu a objem červených krvinek překračují horní hranici normy OFFICIAL en cs HP:0001901 rdfs:label Polycythemia Polycytémia OFFICIAL en cs HP:0001902 IAO:0000115 Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998). Obří krevní destičky jsou větší než 7 mikrometrů, obvykle mají velikost 10 až 20 mikrometrů. Termín obří trombocyty se používá, pokud je trombocyt větší než velikost průměrné červené krvinky ve vyšetřovaném poli. (Popis převzat z College of American Pathologists, Hematology Manual, 1998) OFFICIAL @@ -2943,9 +2943,9 @@ en cs HP:0002119 IAO:0000115 An increase in size of the ventricular system of th en cs HP:0002119 rdfs:label Ventriculomegaly Ventrikulomegalie OFFICIAL en cs HP:0002120 IAO:0000115 Atrophy of the cortex of the cerebrum. Atrofie mozkové kůry OFFICIAL en cs HP:0002120 rdfs:label Cerebral cortical atrophy Cerebrální kortikální atrofie OFFICIAL -en cs HP:0002121 IAO:0000115 A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. Záchvaty typu absence se projevují náhlým zastavením aktivity a vědomí. Absence se obvykle vyskytují v mladších věkových skupinách, mají náhlejší začátek a konec a obvykle se u nich projevují méně komplexní automatizmy než u fokálních záchvatů s poruchou vědomí, ale toto rozlišení není absolutní. OFFICIAL +en cs HP:0002121 IAO:0000115 A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. Záchvaty typu absence se projevují náhlým zastavením aktivity a vědomí. Absence se obvykle vyskytují v mladších věkových skupinách, mají náhlejší začátek a konec a obvykle se u nich projevují méně komplexní automatizmy než u fokálních záchvatů s poruchou vědomí, ale toto rozlišení není absolutní. CANDIDATE en cs HP:0002121 rdfs:label Generalized non-motor (absence) seizure Generalizovaný nemotorický záchvat (absence) OFFICIAL -en cs HP:0002123 IAO:0000115 A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. Generalizovaný myoklonický záchvat je typ generalizovaného motorického záchvatu charakterizovaného bilaterální, náhlou, krátkou (100 ms) mimovolní kontrakcí jednoho nebo více svalů nebo svalových skupin s různou topografií (axiální, proximální končetiny, distální). Myoklonus je méně pravidelně se opakující a méně trvalý než klonus. OFFICIAL +en cs HP:0002123 IAO:0000115 A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. Generalizovaný myoklonický záchvat je typ generalizovaného motorického záchvatu charakterizovaného bilaterální, náhlou, krátkou (100 ms) mimovolní kontrakcí jednoho nebo více svalů nebo svalových skupin s různou topografií (axiální, proximální končetiny, distální). Myoklonus je méně pravidelně se opakující a méně trvalý než klonus. CANDIDATE en cs HP:0002123 rdfs:label Generalized myoclonic seizure Generalizovaný myoklonický záchvat OFFICIAL en cs HP:0002126 IAO:0000115 Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds). Vrozená vada mozkové hemisféry charakterizovaná velkým počtem malých gyrů (závitů) na povrchu mozku CANDIDATE en cs HP:0002126 rdfs:label Polymicrogyria Polymikrogyrie OFFICIAL @@ -3092,7 +3092,7 @@ en cs HP:0002221 IAO:0000115 Absence of axillary hair. Nepřítomnost axilární en cs HP:0002221 rdfs:label Absent axillary hair Chybějící axilární ochlupení OFFICIAL en cs HP:0002223 IAO:0000115 Absence of the eyebrow. Nepřítomnost obočí OFFICIAL en cs HP:0002223 rdfs:label Absent eyebrow Chybějící obočí OFFICIAL -en cs HP:0002224 IAO:0000115 The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. Termín vlnité vlasy označuje abnormální variantu vlasů, které jsou jemné, s pevně stočenými kadeřemi a často hypopigmentované. Optická mikroskopie může odhalit přítomnost těsných spirál a zřetelné zmenšení průměru ve srovnání s normálními vlasy. Elektronová mikroskopie může ukázat ploché, oválné vlasové stvoly se zmenšeným příčným průměrem. CANDIDATE +en cs HP:0002224 IAO:0000115 The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. Termín vlnité vlasy označuje abnormální variantu vlasů, které jsou jemné, s pevně stočenými kadeřemi a často hypopigmentované. Optická mikroskopie může odhalit přítomnost těsných spirál a zřetelné zmenšení průměru ve srovnání s normálními vlasy. Elektronová mikroskopie může ukázat ploché, oválné vlasové stvoly se zmenšeným příčným průměrem. CANDIDATE en cs HP:0002224 rdfs:label Woolly hair Vlnité vlasy OFFICIAL en cs HP:0002225 IAO:0000115 Reduced number or density of pubic hair. Snížený počet nebo hustota pubického ochlupení OFFICIAL en cs HP:0002225 rdfs:label Sparse pubic hair Řídké pubické ochlupení OFFICIAL @@ -3373,7 +3373,7 @@ en cs HP:0002474 IAO:0000115 A delay in the acquisition of the ability to use la en cs HP:0002474 rdfs:label Expressive language delay Expresivní porucha řeči OFFICIAL en cs HP:0002475 IAO:0000115 Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column. Vyhřeznutí mozkových blan a části míchy skrz defekt páteře. OFFICIAL en cs HP:0002475 rdfs:label Myelomeningocele Myelomeningokéla OFFICIAL -en cs HP:0002476 IAO:0000115 The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant. Primitivní reflexy jsou skupinou behaviorálních motorických reakcí, které se vyskytují v normálním raném vývoji, následně jsou inhibovány, ale mohou být uvolněny z inhibice při poškození mozku, obvykle frontálním. Jsou tedy součástí širší skupiny reflexů, které odrážejí uvolňovací jevy, jako jsou přehnané natahovací reflexy a extenzorové plantární reflexy. Zahrnují však složitější motorické reakce než tyto jednoduché protahovací reflexy a jsou často normálním rysem u novorozenců nebo kojenců. OFFICIAL +en cs HP:0002476 IAO:0000115 The primitive reflexes are a group of behavioral motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant. Primitivní reflexy jsou skupinou behaviorálních motorických reakcí, které se vyskytují v normálním raném vývoji, následně jsou inhibovány, ale mohou být uvolněny z inhibice při poškození mozku, obvykle frontálním. Jsou tedy součástí širší skupiny reflexů, které odrážejí uvolňovací jevy, jako jsou přehnané natahovací reflexy a extenzorové plantární reflexy. Zahrnují však složitější motorické reakce než tyto jednoduché protahovací reflexy a jsou často normálním rysem u novorozenců nebo kojenců. CANDIDATE en cs HP:0002476 rdfs:label Primitive reflex Primitivní reflex OFFICIAL en cs HP:0002478 rdfs:label Progressive spastic quadriplegia Progresivní spastická quadruplegie OFFICIAL en cs HP:0002480 IAO:0000115 Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes. Dysfunkce centrálního nervového systému související se selháním jater a klinicky charakterizovaná (v závislosti na stupni závažnosti) letargií, zmatením, nystagmem, dekortikační rigiditou, spasticitou a bilaterálními Babinskými reflexy OFFICIAL @@ -3738,8 +3738,8 @@ en cs HP:0002742 IAO:0000115 Increased susceptibility to Klebsiella infections, en cs HP:0002742 rdfs:label Recurrent Klebsiella infections Opakované infekce Klebsiellou OFFICIAL en cs HP:0002743 IAO:0000115 Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection. Zvýšená náchylnost k enterovirálním infekcím projevující se jako opakující se epizody enterovirální infekce OFFICIAL en cs HP:0002743 rdfs:label Recurrent enteroviral infections Opakované enterovirální infekce OFFICIAL -en cs HP:0002744 IAO:0000115 Cleft lip and cleft palate affecting both sides of the face. Rozštěp rtu a rozštěp patra postihující obě strany obličeje OFFICIAL -en cs HP:0002744 rdfs:label Bilateral cleft lip and palate Rozštěp tvrdého patra s oboustranným rozštěpem rtu OFFICIAL +en cs HP:0002744 IAO:0000115 Cleft lip and cleft palate affecting both sides of the face Rozštěp rtu a rozštěp patra postihující obě strany obličeje OFFICIAL +en cs HP:0002744 rdfs:label obsolete Bilateral cleft lip and palate Rozštěp tvrdého patra s oboustranným rozštěpem rtu CANDIDATE en cs HP:0002745 IAO:0000115 A thickened white patch on the oral mucosa that cannot be rubbed off. Ztluštělá bílá skvrna na sliznici dutiny ústní, kterou nelze setřít OFFICIAL en cs HP:0002745 rdfs:label Oral leukoplakia Ústní leukoplakie OFFICIAL en cs HP:0002747 rdfs:label Respiratory insufficiency due to muscle weakness Respirační nedostatečnost v důsledku svalové slabosti OFFICIAL @@ -4353,7 +4353,7 @@ en cs HP:0003218 IAO:0000115 An increased concentration of orotic acid in the ur en cs HP:0003218 rdfs:label Oroticaciduria Orotic aciduria OFFICIAL en cs HP:0003219 IAO:0000115 The concentration of ethylmalonic acid in the urine, normalized for urine concentration, is above the upper limit of normal. Zvýšená koncentrace kyseliny ethylmalonové v moči. CANDIDATE en cs HP:0003219 rdfs:label Ethylmalonic aciduria Ethylmalonová acidurie OFFICIAL -en cs HP:0003220 IAO:0000115 A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration. Typ chromozomové aberace charakterizovaný sníženou odolností chromozomů k poškození OFFICIAL +en cs HP:0003220 IAO:0000115 A type of chromosomal aberration characterized by reduced resistance of chromosomes to change or deterioration. Typ chromozomové aberace charakterizovaný sníženou odolností chromozomů k poškození CANDIDATE en cs HP:0003220 rdfs:label Abnormality of chromosome stability Chromozomová instabilita OFFICIAL en cs HP:0003221 IAO:0000115 Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C. Zvýšené množství chromozomálních zlomů v kultivovaných periferních lymfocytech či jiných buňkách indukované DNA zesíťujícími (crosslinking) činidly, jako je diepoxybutan a mitomycin C OFFICIAL en cs HP:0003221 rdfs:label Chromosomal breakage induced by crosslinking agents Chromozomový zlom způsobený zesíťujícími (crosslinking) látkami OFFICIAL @@ -4645,7 +4645,7 @@ en cs HP:0003450 IAO:0000115 The presence of axonal regeneration following a pre en cs HP:0003450 rdfs:label Axonal regeneration Axonální regenerace OFFICIAL en cs HP:0003451 IAO:0000115 An increased rate of premature chromosome condensation. Zvýšená míra předčasné chromozomové kondenzace OFFICIAL en cs HP:0003451 rdfs:label Increased rate of premature chromosome condensation Zvýšená míra předčasné chromozomové kondenzace OFFICIAL -en cs HP:0003452 rdfs:label Increased serum iron Zvýšené sérové železo OFFICIAL +en cs HP:0003452 rdfs:label Increased circulating iron concentration Zvýšené sérové železo CANDIDATE en cs HP:0003453 IAO:0000115 The presence of autoantibodies in the serum that react against neutrophils. Přítomnost autoprotilátek v séru, které reagují proti neutrofilům OFFICIAL en cs HP:0003453 rdfs:label Antineutrophil antibody positivity Pozitivita antineutrofilových protilátek OFFICIAL en cs HP:0003454 IAO:0000115 The presence in the serum of autoantibodies directed against thrombocytes. Přítomnost sérových autoprotilátek namířených proti trombocytům OFFICIAL @@ -4832,8 +4832,8 @@ en cs HP:0003634 IAO:0000115 Congenital lack of development of the muscles, whic en cs HP:0003634 rdfs:label Amyoplasia Amyoplázie OFFICIAL en cs HP:0003635 IAO:0000115 Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg. Úbytek (vymizení) dříve přítomné podkožní tukové tkáně na paži nebo noze OFFICIAL en cs HP:0003635 rdfs:label Loss of subcutaneous adipose tissue in limbs Úbytek podkožní tukové tkáně na končetinách OFFICIAL -en cs HP:0003637 IAO:0000115 An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase level. Abnormální snížení hladiny 4-hydroxyfenylpyruvátdioxygenázy OFFICIAL -en cs HP:0003637 rdfs:label Reduced 4-Hydroxyphenylpyruvate dioxygenase level Snížená hladina 4-hydroxyfenylpyruvátdioxygenázy OFFICIAL +en cs HP:0003637 IAO:0000115 Activity or concentration of 4-hydroxyphenylpyruvate dioxygenase in the blood circulation below the lower limit of normal. Abnormální snížení hladiny 4-hydroxyfenylpyruvátdioxygenázy CANDIDATE +en cs HP:0003637 rdfs:label Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity Snížená hladina 4-hydroxyfenylpyruvátdioxygenázy CANDIDATE en cs HP:0003639 IAO:0000115 The concentration of epinephrine in the urine, normalized for urine concentration, is above the upper limit of normal. Zvýšená koncentrace adrenalinu v moči CANDIDATE en cs HP:0003639 rdfs:label Elevated urinary epinephrine level Zvýšený epinefrin v moči CANDIDATE en cs HP:0003640 IAO:0000115 The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the central nervous system. Přítomnost pěnových buněk, typu makrofágů, které se lokalizují v tukových ložiscích na stěnách cév, v centrálním nervovém systému. CANDIDATE @@ -5486,7 +5486,7 @@ en cs HP:0004326 IAO:0000115 Severe weight loss, wasting of muscle, loss of appe en cs HP:0004326 rdfs:label Cachexia Kachexie OFFICIAL en cs HP:0004327 IAO:0000115 Any structural anomaly of the vitreous body. Jakákoli strukturální anomálie sklivce. OFFICIAL en cs HP:0004327 rdfs:label Abnormal vitreous humor morphology Abnormální morfologie sklivce OFFICIAL -en cs HP:0004328 IAO:0000115 An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens). Abnormalita předního segmentu oční koule (který zahrnuje struktury před sklivcem: rohovku, duhovku, řasnaté tělísko a čočku). OFFICIAL +en cs HP:0004328 IAO:0000115 An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humor: the cornea, iris, ciliary body, and lens). Abnormalita předního segmentu oční koule (který zahrnuje struktury před sklivcem: rohovku, duhovku, řasnaté tělísko a čočku). CANDIDATE en cs HP:0004328 rdfs:label Abnormal anterior eye segment morphology Abnormální morfologie předního očního segmentu OFFICIAL en cs HP:0004329 rdfs:label Abnormal posterior eye segment morphology Abnormální morfologie zadního očního segmentu OFFICIAL en cs HP:0004330 IAO:0000115 An increase in the magnitude or amount of ossification of the skull. Zvýšená intenzita osifikace kostí lebky. OFFICIAL @@ -5601,7 +5601,7 @@ en cs HP:0004396 IAO:0000115 A reduced desire to eat. Snížená chuť k jídlu en cs HP:0004396 rdfs:label Poor appetite Nízká chuť k jídlu OFFICIAL en cs HP:0004397 IAO:0000115 Abnormal displacement or malposition of the anus. Abnormální posunutí nebo špatná poloha anu OFFICIAL en cs HP:0004397 rdfs:label Ectopic anus Ektopický anus OFFICIAL -en cs HP:0004398 IAO:0000115 The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the oesophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers. Termín peptický vřed označuje kyselé peptické poškození trávicího traktu, které vede k porušení sliznice až do podkoží. Peptické vředy se obvykle nacházejí v žaludku nebo proximálním duodenu, ale mohou se vyskytovat i v jícnu nebo Meckelově divertiklu. Infekce Helicobacter pylori a užívání nesteroidních protizánětlivých léků (NSAID) nebo aspirinu jsou hlavními rizikovými faktory vzniku žaludečních i dvanáctníkových vředů. OFFICIAL +en cs HP:0004398 IAO:0000115 The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the esophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers. Termín peptický vřed označuje kyselé peptické poškození trávicího traktu, které vede k porušení sliznice až do podkoží. Peptické vředy se obvykle nacházejí v žaludku nebo proximálním duodenu, ale mohou se vyskytovat i v jícnu nebo Meckelově divertiklu. Infekce Helicobacter pylori a užívání nesteroidních protizánětlivých léků (NSAID) nebo aspirinu jsou hlavními rizikovými faktory vzniku žaludečních i dvanáctníkových vředů. CANDIDATE en cs HP:0004398 rdfs:label Peptic ulcer Peptický vřed OFFICIAL en cs HP:0004399 IAO:0000115 Congenital atresia of the pylorus. Vrozená atrézie pyloru OFFICIAL en cs HP:0004399 rdfs:label Congenital pyloric atresia Kongenitální pylorická atrézie OFFICIAL @@ -5651,7 +5651,7 @@ en cs HP:0004429 rdfs:label Recurrent viral infections Opakované virové infekc en cs HP:0004430 IAO:0000115 A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems. Kombinovaná primární imunodeficience charakterizovaná závažným defektem v systému T-lymfocytů i B-lymfocytů OFFICIAL en cs HP:0004430 rdfs:label Severe combined immunodeficiency Těžká kombinovaná imunodeficience OFFICIAL en cs HP:0004431 IAO:0000115 An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins. Imunodeficit definovaný nepřítomnou nebo suboptimální funkcí jednoho z proteinu komplementového systému OFFICIAL -en cs HP:0004431 rdfs:label Complement deficiency Nedostatek komplementu OFFICIAL +en cs HP:0004431 rdfs:label Reduced circulating complement concentration Nedostatek komplementu CANDIDATE en cs HP:0004432 IAO:0000115 A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured. Absence nebo extrémně nízká hladina IgA, IgM a IgM v oběhu CANDIDATE en cs HP:0004432 rdfs:label Agammaglobulinemia Agamaglobulinemie OFFICIAL en cs HP:0004433 IAO:0000115 Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens. Nedostatek sekrečního IgA (polymery 2-4 monomerů IgA jsou spojeny dvěma přídatnýmia řetězcema), který je primární protilátkovou odpovědí na slizniční úrovni, kde tvoří imunitní komplexy s patogeny a alergeny OFFICIAL @@ -6030,7 +6030,7 @@ en cs HP:0004855 IAO:0000115 An abnormality of coagulation related to a decrease en cs HP:0004855 rdfs:label Reduced protein S activity Snížená aktivita proteinu S OFFICIAL en cs HP:0004856 IAO:0000115 A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes. Typ anémie charakterizovaný normální koncentrací hemoglobínu v erytrocytech a menší než normální velikosti erytrocytů OFFICIAL en cs HP:0004856 rdfs:label Normochromic microcytic anemia Normochromní mikrocytární anémie OFFICIAL -en cs HP:0004857 IAO:0000115 A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin. Typ anémie, která se projevuje abnormálně velkými erytrocyty s abnormálně vysokým množstvím hemoglobinu. CANDIDATE +en cs HP:0004857 IAO:0000115 A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of hemoglobin. Typ anémie, která se projevuje abnormálně velkými erytrocyty s abnormálně vysokým množstvím hemoglobinu. CANDIDATE en cs HP:0004857 rdfs:label Hyperchromic macrocytic anemia Hyperchromní makrocytání anémie OFFICIAL en cs HP:0004859 IAO:0000115 Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes. Trombocytopenie související s nedostatkem nebo závažným snížením počtu megakaryocytů OFFICIAL en cs HP:0004859 rdfs:label Amegakaryocytic thrombocytopenia Amegakaryocytární trombocytopenie OFFICIAL @@ -6274,7 +6274,7 @@ en cs HP:0005103 rdfs:label Calcification of the auricular cartilage Kalcifikace en cs HP:0005104 IAO:0000115 Underdevelopment of the nasal septum. Nedostatečné vyvinutí nosní přepážky OFFICIAL en cs HP:0005104 rdfs:label Hypoplastic nasal septum Hypoplastická nosní přepážka OFFICIAL en cs HP:0005105 rdfs:label Abnormal nasal morphology Abnormální morfologie nosu OFFICIAL -en cs HP:0005106 IAO:0000115 Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs. Jakákoliv abnormalita krycích ploch obratlů, které jsou na vrchní a spodní části těla obratle, které naléhají na meziobratlové ploténky OFFICIAL +en cs HP:0005106 IAO:0000115 Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral disks. Jakákoliv abnormalita krycích ploch obratlů, které jsou na vrchní a spodní části těla obratle, které naléhají na meziobratlové ploténky CANDIDATE en cs HP:0005106 rdfs:label Abnormality of the vertebral endplates Abnormalita krycích ploch (vrstvička hyalinní chrupavky) obratlů OFFICIAL en cs HP:0005107 IAO:0000115 An abnormality of the sacral bone. Jakákoliv abnormalita křížové kosti OFFICIAL en cs HP:0005107 rdfs:label Abnormal sacrum morphology Abnormální morfologie křížové kosti OFFICIAL @@ -6494,7 +6494,7 @@ en cs HP:0005281 rdfs:label Hypoplastic nasal bridge Hypoplastický kořen nosu en cs HP:0005285 rdfs:label Absent nasal bridge Chybějící kořen nosu OFFICIAL en cs HP:0005288 IAO:0000115 Abnormality of the nostril. Abnormalita nares, vhodu do nosu OFFICIAL en cs HP:0005288 rdfs:label Abnormal nostril morphology Abnormální morfologie nozder OFFICIAL -en cs HP:0005289 rdfs:label Abnormality of the nasolabial region Abnormalita nazolabiální oblasti OFFICIAL +en cs HP:0005289 rdfs:label Abnormal nasolabial region morphology Abnormalita nazolabiální oblasti CANDIDATE en cs HP:0005290 rdfs:label Internal carotid artery hypoplasia Hypoplázie arteria carotis interna OFFICIAL en cs HP:0005291 rdfs:label Inflammatory arteriopathy Zánětlivá arteriopatie OFFICIAL en cs HP:0005292 rdfs:label Intimal thickening in the coronary arteries Ztluštění intimy koronárních tepen OFFICIAL @@ -7500,7 +7500,7 @@ en cs HP:0006414 IAO:0000115 A bending or abnormal curvature of the distal porti en cs HP:0006414 rdfs:label Distal tibial bowing Distální ohnutí tibie OFFICIAL en cs HP:0006415 IAO:0000115 Increased density of the compact bone of long bone. Zvýšení kostní denzity kompaktní kosti dlouhých kostí OFFICIAL en cs HP:0006415 rdfs:label Cortically dense long tubular bones Denzní kortikální kost dlouhých tubulárních kostí OFFICIAL -en cs HP:0006417 rdfs:label Broad femoral metaphyses Široké metafýzy femuru OFFICIAL +en cs HP:0006417 rdfs:label Wide femoral metaphysis Široké metafýzy femuru CANDIDATE en cs HP:0006420 IAO:0000115 The presence of asymmetric developmental dysplasia of the radius. Přítomnost asymetrické vývojové dysplazie radia OFFICIAL en cs HP:0006420 rdfs:label Asymmetric radial dysplasia Asymetrická radiální dysplazie OFFICIAL en cs HP:0006423 rdfs:label Peg-like central prominence of distal tibial metaphyses Čepovitá centrální prominence distální metafýzy tibie OFFICIAL @@ -7510,7 +7510,7 @@ en cs HP:0006426 rdfs:label Rudimentary to absent tibiae Rudimentární až zcel en cs HP:0006429 IAO:0000115 An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). Abnormálně široký krček stehenní kosti (krček je část spojující hlavici s tělem kosti). OFFICIAL en cs HP:0006429 rdfs:label Broad femoral neck Široký krček femuru OFFICIAL en cs HP:0006431 IAO:0000115 An anomaly of the metaphysis of the proximal femur (close to the hip). Anomálie metafýzy proximálního femuru (části blízko u kyčle) OFFICIAL -en cs HP:0006431 rdfs:label Proximal femoral metaphyseal abnormality Abnormalita proximální femorální metafýzy OFFICIAL +en cs HP:0006431 rdfs:label Abnormal proximal femoral metaphysis morphology Abnormalita proximální femorální metafýzy CANDIDATE en cs HP:0006432 rdfs:label Trapezoidal distal femoral condyles Lichoběžníkové distální kondyly femuru OFFICIAL en cs HP:0006433 IAO:0000115 Radial dysplasia, also known as radial longitudinal deficiency, includes radial clubhand and is a disfiguring, and potentially disabling, congenital limb anomaly. The entire upper limb may be involved, although the defect is most evident in the forearm and hand. Affected children suffer a variable degree of hypoplasia or absence of the preaxial skeleton and soft tissues, in particular the thumb, radius, and dorsoradial soft tissues. The hand is usually radially deviated and subluxated off the distal aspect of the ulna, the ulna may be shortened and have a bow-shaped deformity, and there is no true wrist (radiocarpal) joint in Bayne2 type-III and IV radial dysplasia. Radiální dysplazie, známá také jako longitudinální radiální hypoplazie, zahrnuje radial club hand a je deformující a potenciálně invalidizující vrozenou anomálií končetiny. Může být postižena celá horní končetina, ačkoli vada je nejvíce patrná na předloktí a ruce. Postižené děti trpí různým stupněm hypoplázie nebo aplázie preaxiálního skeletu a měkkých tkání, zejména palce, radia a přilehlých měkkých tkání. Ruka je obvykle v zápěstí radiálně zahnuta a je přítomna subluxace ulny, ulna může být zkrácená a mít zahnutý tvar. U radiální dysplazie typu Bayne2 III a IV není přítomen skutečný zápěstní (radiokarpální) kloub CANDIDATE en cs HP:0006433 rdfs:label Radial dysplasia Radiální dysplázie OFFICIAL @@ -8241,7 +8241,7 @@ en cs HP:0007267 rdfs:label Chronic axonal neuropathy Chronická axonální neur en cs HP:0007268 rdfs:label Aprosencephaly Aprosencefalie OFFICIAL en cs HP:0007269 IAO:0000115 Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. Svalová slabost a atrofie související se ztrátou motorických neuronů míchy a mozkového kmene OFFICIAL en cs HP:0007269 rdfs:label Spinal muscular atrophy Spinální svalová atrofie OFFICIAL -en cs HP:0007270 IAO:0000115 An atypical absence seizure is a type of generalised non-motor (absence) seizure characterised by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity. Atypický záchvat absence je typ generalizovaného nemotorického záchvatu (absence), který se vyznačuje přerušením probíhajících činností a sníženou reaktivitou. Ve srovnání s typickým záchvatem absence mohou být změny tonu výraznější, nástup a/nebo ukončení záchvatu mohou být méně náhlé a doba trvání iktu a zotavení po záchvatu může být delší. Ačkoli není vždy k dispozici, EEG často prokazuje pomalou (<3 Hz), nepravidelnou, generalizovanou aktivitu s hroty a vlnami. OFFICIAL +en cs HP:0007270 IAO:0000115 An atypical absence seizure is a type of generalized non-motor (absence) seizure characterized by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity. Atypický záchvat absence je typ generalizovaného nemotorického záchvatu (absence), který se vyznačuje přerušením probíhajících činností a sníženou reaktivitou. Ve srovnání s typickým záchvatem absence mohou být změny tonu výraznější, nástup a/nebo ukončení záchvatu mohou být méně náhlé a doba trvání iktu a zotavení po záchvatu může být delší. Ačkoli není vždy k dispozici, EEG často prokazuje pomalou (<3 Hz), nepravidelnou, generalizovanou aktivitu s hroty a vlnami. CANDIDATE en cs HP:0007270 rdfs:label Atypical absence seizure Atypické absence OFFICIAL en cs HP:0007271 rdfs:label Occipital myelomeningocele Okcipitální meningomyelokéla OFFICIAL en cs HP:0007272 rdfs:label Progressive psychomotor deterioration Progresivní psychomotorická deteriorace OFFICIAL @@ -8368,7 +8368,7 @@ en cs HP:0007410 IAO:0000115 An abnormally increased perspiration on palms and s en cs HP:0007410 rdfs:label Palmoplantar hyperhidrosis Palmoplantární hyperhidróza OFFICIAL en cs HP:0007411 rdfs:label Hypoplastic-absent sebaceous glands Hypoplastické-chybějící mazové žlázy OFFICIAL en cs HP:0007412 rdfs:label Macular hyperpigmented dermopathy Makulární hyperpigmentovaná dermopatie OFFICIAL -en cs HP:0007413 IAO:0000115 Naevus flammeus localised in the skin of the forehead. Naevus flammeus lokalizovaný na kůži čela OFFICIAL +en cs HP:0007413 IAO:0000115 Naevus flammeus localized in the skin of the forehead. Naevus flammeus lokalizovaný na kůži čela CANDIDATE en cs HP:0007413 rdfs:label Nevus flammeus of the forehead Nevus flammenus na čele OFFICIAL en cs HP:0007414 rdfs:label Neonatal wrinkled skin of hands and feet Vrásčitá kůže rukou a nohou u novorozenců OFFICIAL en cs HP:0007417 IAO:0000115 Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy. Kožní léze, která se vyvíjí jako suchá, šupinatá, červená skvrna, která přechází v indurovaný a hyperpigmentovaný plak s přilnavými šupinami. Jizvení může vyústit v centrální bílé skvrny (ztráta pigmentace) a atrofii kůže. OFFICIAL @@ -8555,7 +8555,7 @@ en cs HP:0007609 IAO:0000115 An abnormal accumulation of fluid beneath the skin, en cs HP:0007609 rdfs:label Hypoproteinemic edema Hypoproteinemický edém OFFICIAL en cs HP:0007610 rdfs:label Blotching pigmentation of the skin Skvrnitá pigmentace kůže OFFICIAL en cs HP:0007613 rdfs:label Spinous keratoses of palms and soles Spinózní keratózy dlaní a chodidel OFFICIAL -en cs HP:0007616 IAO:0000115 Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns. Naevus flammeus lokalizovaný na kůži na krku. Jedná se o jedno z nejčastějších mateřských znamének, které se vyskytuje přibližně u 25 % všech novorozenců. OFFICIAL +en cs HP:0007616 IAO:0000115 Naevus flammeus localized in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns. Naevus flammeus lokalizovaný na kůži na krku. Jedná se o jedno z nejčastějších mateřských znamének, které se vyskytuje přibližně u 25 % všech novorozenců. CANDIDATE en cs HP:0007616 rdfs:label Nevus flammeus nuchae Nevus flammeus nuchae OFFICIAL en cs HP:0007617 rdfs:label Fine, reticulate skin pigmentation Jemná retikulární pigmentace kůže OFFICIAL en cs HP:0007618 IAO:0000115 Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument). Depozice kalciových solí v podkožní tkáni (t.j. nejspodnější vrstvě kůže) OFFICIAL @@ -8570,7 +8570,7 @@ en cs HP:0007627 rdfs:label Mandibular condyle aplasia Aplázie mandibulárních en cs HP:0007628 rdfs:label Mandibular condyle hypoplasia Hypoplázie mandibulárních kondylů OFFICIAL en cs HP:0007633 IAO:0000115 A developmental anomaly characterized by abnormal smallness of both eyes. Vývojová anomálie charakterizovaná abnormálním zmenšením obou očí. OFFICIAL en cs HP:0007633 rdfs:label Bilateral microphthalmos Oboustranný mikroftalmus OFFICIAL -en cs HP:0007634 IAO:0000115 An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates. Akutní stav charakterizovaný náhlou ztrátou zraku (obvykle zjištěnou ráno), edémem optického disku na počátku, defekty zorného pole souvisejícími s optickým diskem. Nearteritická přední ischemická optická neuropatie může být spojena s plamenkovitými krváceními na oteklém disku nebo blízké neuroretinální vrstvě a někdy s blízkými vatovitými exsudáty. OFFICIAL +en cs HP:0007634 IAO:0000115 An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disk or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates. Akutní stav charakterizovaný náhlou ztrátou zraku (obvykle zjištěnou ráno), edémem optického disku na počátku, defekty zorného pole souvisejícími s optickým diskem. Nearteritická přední ischemická optická neuropatie může být spojena s plamenkovitými krváceními na oteklém disku nebo blízké neuroretinální vrstvě a někdy s blízkými vatovitými exsudáty. CANDIDATE en cs HP:0007634 rdfs:label Nonarteritic anterior ischemic optic neuropathy Nearteritická forma přední ischemické neuropatie OFFICIAL en cs HP:0007641 IAO:0000115 A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments. Forma barvosleposti, při které lze rozlišit pouze dvě ze tří základních barev z důvodu absence jednoho z pigmentů čípku sítnice. OFFICIAL en cs HP:0007641 rdfs:label Dyschromatopsia Dyschromatopsie OFFICIAL @@ -8686,7 +8686,7 @@ en cs HP:0007769 rdfs:label Peripheral retinal degeneration Periferní retináln en cs HP:0007770 rdfs:label Hypoplasia of the retina Hypoplázie sítnice OFFICIAL en cs HP:0007772 IAO:0000115 An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion. Porucha schopnosti sledovat předměty pomocí systému plynulého sledování, což je třída poměrně pomalých očních pohybů, které minimalizují pohyb cíle na sítnici. OFFICIAL en cs HP:0007772 rdfs:label Impaired smooth pursuit Zhoršené plynulé sledování OFFICIAL -en cs HP:0007773 IAO:0000115 Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. Oční abnormalita charakterizovaná předčasnou degenerací sklivce a sítnice, která může být spojena se zvýšeným rizikem odchlípení sítnice. OFFICIAL +en cs HP:0007773 IAO:0000115 Ocular abnormality characterized by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. Oční abnormalita charakterizovaná předčasnou degenerací sklivce a sítnice, která může být spojena se zvýšeným rizikem odchlípení sítnice. CANDIDATE en cs HP:0007773 rdfs:label Vitreoretinopathy Vitreoretinopatie OFFICIAL en cs HP:0007774 IAO:0000115 Underdevelopment of the ciliary body. Hypoplázie řasnatého tělíska OFFICIAL en cs HP:0007774 rdfs:label Hypoplasia of the ciliary body Hypoplázie ciliárního tělíska OFFICIAL @@ -8788,7 +8788,7 @@ en cs HP:0007889 IAO:0000115 A type of posterior subcapsular cataract characteri en cs HP:0007889 rdfs:label Iridescent posterior subcapsular cataract Iridescentní zadní subkapsulární katarakta OFFICIAL en cs HP:0007892 IAO:0000115 Underdevelopment of the lacrimal puncta. Nedostatečně vyvinuté punctum lacrimale. OFFICIAL en cs HP:0007892 rdfs:label Hypoplasia of the lacrimal punctum Hypoplázie punctum lacrimale OFFICIAL -en cs HP:0007894 IAO:0000115 Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid). Snížená pigmentace očního fundu, typicky generalizovaná. Pomocí fundoskopie můžeme odhalit nízkou hladinu pigmentu v oblasti RPE a cévnatku s dobre viditelnými choroidálními cévami (bledé/albinoidní) nebo nízkou hladinu pigmentu v oblasti RPE s hlubokým pigmentem v cévnatce, takže viditelné choroidální cévy jsou odděleny hluboce pigmentovanými zónami (teselované/tigroidní ). OFFICIAL +en cs HP:0007894 IAO:0000115 Reduced pigmentation of the fundus, typically generalized. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid). Snížená pigmentace očního fundu, typicky generalizovaná. Pomocí fundoskopie můžeme odhalit nízkou hladinu pigmentu v oblasti RPE a cévnatku s dobre viditelnými choroidálními cévami (bledé/albinoidní) nebo nízkou hladinu pigmentu v oblasti RPE s hlubokým pigmentem v cévnatce, takže viditelné choroidální cévy jsou odděleny hluboce pigmentovanými zónami (teselované/tigroidní ). CANDIDATE en cs HP:0007894 rdfs:label Hypopigmentation of the fundus Hypopigmentace fundu OFFICIAL en cs HP:0007898 rdfs:label Exudative retinopathy Exsudativní retinopatie OFFICIAL en cs HP:0007899 IAO:0000115 Failure of attachment of the retina during development. Selhání uchycení sítnice během vývoje. OFFICIAL @@ -8850,7 +8850,7 @@ en cs HP:0007963 IAO:0000115 A spectrum of fundoscopic appearances characterized en cs HP:0007963 rdfs:label Pattern dystrophy of the retina Pattern dystrofie sítnice OFFICIAL en cs HP:0007964 rdfs:label Degenerative vitreoretinopathy Degenerativní vitreoretinopatie OFFICIAL en cs HP:0007965 rdfs:label Undetectable visual evoked potentials Nedetekovatelné zrakové evokované potenciály OFFICIAL -en cs HP:0007968 IAO:0000115 Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract. Perzistence hyaloidní tepny, což je embryonální tepna, která vede od disku zrakového nervu k zadnímu pouzdru čočky; místo úponu může tvořit zákal. Hyaloidní tepna je větví oftalmické tepny a obvykle zcela regreduje před narozením. Tato vlastnost je důsledkem selhání regrese hyaloidní cévy, která zásobuje primární sklivec během embryogeneze a normálně regreduje ve třetím trimestru těhotenství, což vede ke zvláštní formě zadní katarakty. OFFICIAL +en cs HP:0007968 IAO:0000115 Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract. Perzistence hyaloidní tepny, což je embryonální tepna, která vede od disku zrakového nervu k zadnímu pouzdru čočky; místo úponu může tvořit zákal. Hyaloidní tepna je větví oftalmické tepny a obvykle zcela regreduje před narozením. Tato vlastnost je důsledkem selhání regrese hyaloidní cévy, která zásobuje primární sklivec během embryogeneze a normálně regreduje ve třetím trimestru těhotenství, což vede ke zvláštní formě zadní katarakty. CANDIDATE en cs HP:0007968 rdfs:label Remnants of the hyaloid vascular system Pozůstatky hyaloidního cévního systému OFFICIAL en cs HP:0007970 rdfs:label Congenital ptosis Kongenitální ptóza OFFICIAL en cs HP:0007971 IAO:0000115 A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens. Vrozená katarakta, při níž je zákal omezen na vrstvy čočky vně jádra (tj. perinukleární oblast), tj. mezi jadernou a kortikální vrstvou čočky. OFFICIAL @@ -9293,7 +9293,7 @@ en cs HP:0008417 IAO:0000115 Small, underdeveloped vertebral bodies. Malé, hypo en cs HP:0008417 rdfs:label Vertebral hypoplasia Hypoplázie obratlů OFFICIAL en cs HP:0008418 rdfs:label Squared-off platyspondyly Čtvercová platyspondylie OFFICIAL en cs HP:0008419 IAO:0000115 The presence of degenerative changes of intervertebral disk. Přítomnost degenerativních změn meziobratlové ploténky OFFICIAL -en cs HP:0008419 rdfs:label Intervertebral disc degeneration Degenerace meziobratlové ploténky OFFICIAL +en cs HP:0008419 rdfs:label Intervertebral disk degeneration Degenerace meziobratlové ploténky CANDIDATE en cs HP:0008420 IAO:0000115 The presence of punctiform calcification of the bone of the vertebral bodies. Přítomnost bodových kalcifikací kosti obratlových těl OFFICIAL en cs HP:0008420 rdfs:label Punctate vertebral calcifications Tečkované kalcifikace obratlů OFFICIAL en cs HP:0008421 rdfs:label Tall lumbar vertebral bodies Vysoká tělá lumbálních obratů OFFICIAL @@ -9391,11 +9391,11 @@ en cs HP:0008494 IAO:0000115 Partial displacement of the lens in the inferior di en cs HP:0008494 rdfs:label Inferior lens subluxation Subluxace čočky směrem dolů OFFICIAL en cs HP:0008496 rdfs:label Multiple rows of eyelashes Více řad očních řas OFFICIAL en cs HP:0008497 rdfs:label Congenital craniofacial dysostosis Kongenitální kraniofaciální dysostóza OFFICIAL -en cs HP:0008498 rdfs:label No permanent dentition Chybění trvalého chrupu OFFICIAL +en cs HP:0008498 rdfs:label obsolete No permanent dentition Chybění trvalého chrupu CANDIDATE en cs HP:0008499 IAO:0000115 A severe form of hypermetropia with over +5.00 diopters. Těžká forma hypermetropie s více než +5,00 dioptrií. OFFICIAL en cs HP:0008499 rdfs:label High hypermetropia Vysoký stupeň hypermetropie OFFICIAL -en cs HP:0008501 IAO:0000115 Cleft lip or palate affecting the midline region of the palate. Rozštěp rtu a patra postihující středovou oblast patra OFFICIAL -en cs HP:0008501 rdfs:label Median cleft lip and palate Středový rozštěpený rtu a patra OFFICIAL +en cs HP:0008501 IAO:0000115 Cleft lip or palate affecting the midline region of the palate Rozštěp rtu a patra postihující středovou oblast patra OFFICIAL +en cs HP:0008501 rdfs:label obsolete Median cleft lip and palate Středový rozštěpený rtu a patra CANDIDATE en cs HP:0008504 IAO:0000115 The presence of a moderate form of sensorineural hearing impairment. Přítomnost středně těžké formy senzorineurální poruchy sluchu OFFICIAL en cs HP:0008504 rdfs:label Moderate sensorineural hearing impairment Středně těžká percepční porucha sluchu OFFICIAL en cs HP:0008507 rdfs:label Static ophthalmoparesis Statická oftalmoparéza OFFICIAL @@ -9483,8 +9483,8 @@ en cs HP:0008631 IAO:0000115 A developmental anomaly of the ureter. Vývojová a en cs HP:0008631 rdfs:label Ureteral dysgenesis Ureterální dysgeneze OFFICIAL en cs HP:0008633 IAO:0000115 Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females). Nepřítomnost pohlavních žláz (gonády jsou orgány, které produkují gamety; varlata u mužů a vaječníky u žen) OFFICIAL en cs HP:0008633 rdfs:label Agonadism Agonadismus OFFICIAL -en cs HP:0008635 IAO:0000115 Abnormal enlargement of the urinary bladder. Abnormální zvětšení močového měchýře. OFFICIAL -en cs HP:0008635 rdfs:label Hypertrophy of the urinary bladder Hypertrofie močového měchýře OFFICIAL +en cs HP:0008635 IAO:0000115 Increase in thickness of the wall of the urinary bladder. This finding may be seen in conditions such as bladder outlet obstruction and may be accompanied by increased trabeculation of the bladder wall musculature. Abnormální zvětšení močového měchýře. CANDIDATE +en cs HP:0008635 rdfs:label Urinary bladder wall hypertrophy Hypertrofie močového měchýře CANDIDATE en cs HP:0008636 rdfs:label obsolete Lobular glomerulopathy Lobulární glomerulopatie CANDIDATE en cs HP:0008639 rdfs:label Gonadal hypoplasia Gonadální hypoplázie OFFICIAL en cs HP:0008640 rdfs:label Congenital macroorchidism Vrozený makroorchidismus OFFICIAL @@ -10715,8 +10715,8 @@ en cs HP:0009593 IAO:0000115 The presence of a peripheral schwannoma. Přítomno en cs HP:0009593 rdfs:label Peripheral schwannoma Periferní schwannom OFFICIAL en cs HP:0009594 IAO:0000115 A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina. Hamartom (benigní, fokální malformace sestávající z neuspořádané směsi buněk a tkání) sítnice OFFICIAL en cs HP:0009594 rdfs:label Retinal hamartoma Hamartom sítnice OFFICIAL -en cs HP:0009595 IAO:0000115 Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1. Menší počet neurofibromů než je obvyklé u neurofibromatózy typu 1 OFFICIAL -en cs HP:0009595 rdfs:label Occasional neurofibromas Náhodné neurofibromy (mimo neurofibromatózu) OFFICIAL +en cs HP:0009595 IAO:0000115 Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1 Menší počet neurofibromů než je obvyklé u neurofibromatózy typu 1 OFFICIAL +en cs HP:0009595 rdfs:label obsolete Occasional neurofibromas Náhodné neurofibromy (mimo neurofibromatózu) CANDIDATE en cs HP:0009596 IAO:0000115 Absence of the proximal phalanx of the 2nd finger. Chybění proximální falangy 2. prstu na ruce OFFICIAL en cs HP:0009596 rdfs:label Aplasia of the proximal phalanx of the 2nd finger Aplázie proximální falangy 2. prstu na ruce OFFICIAL en cs HP:0009597 IAO:0000115 Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger. Hypoplazie (vrozené zkrácení) proximálního falangu druhého prstu OFFICIAL @@ -10941,7 +10941,7 @@ en cs HP:0009725 IAO:0000115 The presence of a neoplasm of the urinary bladder. en cs HP:0009725 rdfs:label Bladder neoplasm Novotvar měchýře OFFICIAL en cs HP:0009726 IAO:0000115 The presence of a neoplasm of the kidney. Přítomnost novotvaru ledvin OFFICIAL en cs HP:0009726 rdfs:label Renal neoplasm Neoplázie ledviny OFFICIAL -en cs HP:0009727 IAO:0000115 Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina. Oblasti sítnice bez pigmentace. Vypíchnuté oblasti chorioretinální hypopigmentace o velikosti menší než 1 průměr disku, které se nacházejí spíše ve střední části sítnice. OFFICIAL +en cs HP:0009727 IAO:0000115 Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disk diameter in size and tending to be located in the midperiphery of the retina. Oblasti sítnice bez pigmentace. Vypíchnuté oblasti chorioretinální hypopigmentace o velikosti menší než 1 průměr disku, které se nacházejí spíše ve střední části sítnice. CANDIDATE en cs HP:0009727 rdfs:label Achromatic retinal patches Achromatické skvrny na sítnici OFFICIAL en cs HP:0009728 IAO:0000115 A benign or malignant neoplasm (tumor) originating in striated muscle, either skeletal muscle or cardiac muscle. Nezhoubný nebo zhoubný novotvar (nádor) pocházející z příčně pruhovaného svalu, buď kosterního svalu nebo srdečního svalu CANDIDATE en cs HP:0009728 rdfs:label Neoplasm of striated muscle Novotvar příčně pruhovaného svalstva OFFICIAL @@ -11254,8 +11254,8 @@ en cs HP:0009920 IAO:0000115 A dermal melanocytic hamartoma that presents as blu en cs HP:0009920 rdfs:label Nevus of Ota Otův névus OFFICIAL en cs HP:0009921 IAO:0000115 A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction Stav spojený s omezením horizontálního pohybu oka s retrakcí očního bulbu a zúžením palpebrální štěrbiny při addukci. OFFICIAL en cs HP:0009921 rdfs:label Duane anomaly Duanův syndrom OFFICIAL -en cs HP:0009922 IAO:0000115 Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. Může přetrvávat hyaloidní tepna, což je embryonální tepna, která vede od disku zrakového nervu k zadnímu pouzdru čočky; místo úponu může tvořit zákal. Hyaloidní tepna je větví oftalmické tepny a obvykle zcela regreduje před narozením. OFFICIAL -en cs HP:0009922 rdfs:label Vascular remnant arising from the disc Cévní zbytek vycházející z disku OFFICIAL +en cs HP:0009922 IAO:0000115 Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. Může přetrvávat hyaloidní tepna, což je embryonální tepna, která vede od disku zrakového nervu k zadnímu pouzdru čočky; místo úponu může tvořit zákal. Hyaloidní tepna je větví oftalmické tepny a obvykle zcela regreduje před narozením. CANDIDATE +en cs HP:0009922 rdfs:label Vascular remnant arising from the disk Cévní zbytek vycházející z disku CANDIDATE en cs HP:0009924 IAO:0000115 Underdevelopment or absence of the nose or parts thereof. Hypoplázie nebo chybění nosu nebo jeho části OFFICIAL en cs HP:0009924 rdfs:label Aplasia/Hypoplasia involving the nose Aplázie/Hypoplázie postihující nos OFFICIAL en cs HP:0009926 IAO:0000115 Abnormally increased lacrimation, that is, excessive tearing (watering eye). Abnormálně zvýšené slzení, tj. nadměrné slzení (slzení očí). OFFICIAL @@ -11743,15 +11743,15 @@ en cs HP:0010220 IAO:0000115 Any abnormality of the epiphysis of the second meta en cs HP:0010220 rdfs:label Abnormality of the epiphysis of the 2nd metacarpal Abnormalita epifýzy 2. metakarpální kosti OFFICIAL en cs HP:0010222 IAO:0000115 Any abnormality of the epiphysis of the third metacarpal bone. Jakákoliv abnormalita epifýzy třetí metakarpální kosti OFFICIAL en cs HP:0010222 rdfs:label Abnormality of the epiphysis of the 3rd metacarpal Abnormalita epifýzy 3. metakarpální kosti OFFICIAL -en cs HP:0010223 IAO:0000115 The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. Normální epifýza třetí metakarpální kosti je umístněná jejim distálním konci. Tento termín se použije v případě přítomnosti akcesorní epifýzy, která je umístněná na proximálním konci matakarpální kosti OFFICIAL +en cs HP:0010223 IAO:0000115 The normal epiphysis of the third metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. Normální epifýza třetí metakarpální kosti je umístněná jejim distálním konci. Tento termín se použije v případě přítomnosti akcesorní epifýzy, která je umístněná na proximálním konci matakarpální kosti CANDIDATE en cs HP:0010223 rdfs:label Pseudoepiphysis of the 3rd metacarpal Pseudoepifýza 3. metakarpální kosti OFFICIAL en cs HP:0010224 IAO:0000115 Any abnormality of the epiphysis of the 4th metacarpal bone. Jakákoliv abnormalita epifýzy čtvrté metakarpální kosti OFFICIAL en cs HP:0010224 rdfs:label Abnormality of the epiphysis of the 4th metacarpal Abnormalita epifýzy 4. metakarpální kosti OFFICIAL -en cs HP:0010225 IAO:0000115 The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. Normální epifýza čtvrté metakarpální kosti je umístněná jejim distálním konci. Tento termín se použije v případě přítomnosti akcesorní epifýzy, která je umístněná na proximálním konci matakarpální kosti OFFICIAL +en cs HP:0010225 IAO:0000115 The normal epiphysis of the fourth metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. Normální epifýza čtvrté metakarpální kosti je umístněná jejim distálním konci. Tento termín se použije v případě přítomnosti akcesorní epifýzy, která je umístněná na proximálním konci matakarpální kosti CANDIDATE en cs HP:0010225 rdfs:label Pseudoepiphysis of the 4th metacarpal Pseudoepifýza 4. metakarpální kosti OFFICIAL en cs HP:0010226 IAO:0000115 Any abnormality of the epiphysis of the fifth metacarpal bone. Jakákoliv abnormalita epifýzy čtvrtý metakarpální kosti OFFICIAL en cs HP:0010226 rdfs:label Abnormality of the epiphysis of the 5th metacarpal Abnormalita epifýzy 5. metakarpální kosti OFFICIAL -en cs HP:0010227 IAO:0000115 The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. Normální epifýza páté metakarpální kosti je umístněná jejim distálním konci. Tento termín se použije v případě přítomnosti akcesorní epifýzy, která je umístněná na proximálním konci matakarpální kosti OFFICIAL +en cs HP:0010227 IAO:0000115 The normal epiphysis of the fifth metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. Normální epifýza páté metakarpální kosti je umístněná jejim distálním konci. Tento termín se použije v případě přítomnosti akcesorní epifýzy, která je umístněná na proximálním konci matakarpální kosti CANDIDATE en cs HP:0010227 rdfs:label Pseudoepiphysis of the 5th metacarpal Pseudoepifýza 5. metakarpální kosti OFFICIAL en cs HP:0010228 IAO:0000115 Absence of one or more epiphyses of the phalanges of the fingers. Nepřítomnost jedné nebo více epifýz falang prstů na ruce OFFICIAL en cs HP:0010228 rdfs:label Absent epiphyses of the phalanges of the hand Chybějící epifýzy falangů na ruce OFFICIAL @@ -12337,7 +12337,7 @@ en cs HP:0010583 rdfs:label Ivory epiphyses Slonovinové epifýzy OFFICIAL en cs HP:0010584 rdfs:label Pseudoepiphyses Pseudoepifýzy OFFICIAL en cs HP:0010585 IAO:0000115 Reduction in the size or volume of epiphyses. Zmenšení velikosti nebo rozměrů epifýz OFFICIAL en cs HP:0010585 rdfs:label Small epiphyses Malé epifýzy OFFICIAL -en cs HP:0010587 rdfs:label Triangular epiphyses Trojúhleníkové epifýzy OFFICIAL +en cs HP:0010587 rdfs:label Triangular epiphysis Trojúhleníkové epifýzy CANDIDATE en cs HP:0010588 IAO:0000115 Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at each end of a long bone, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. Zástava růstu v místě epifyzární (růstové) ploténky, což je ploténka hyalinní chrupavky v metafýze na obou končích dlouhých kostí a to v dřívějším věku, než je obvyklé a v důsledu toho postižená kost přestane růst a je zkrácená. OFFICIAL en cs HP:0010588 rdfs:label Premature epimetaphyseal fusion Predčasný epimetafyzální srůst OFFICIAL en cs HP:0010590 IAO:0000115 Any abnormality of the distal epiphysis of the femur. Jakákoliv abnormalita distální epifýzy femuru OFFICIAL @@ -12364,7 +12364,7 @@ en cs HP:0010601 IAO:0000115 Any abnormality of the proximal epiphysis of the ul en cs HP:0010601 rdfs:label Abnormal proximal ulnar epiphysis morphology Abnormalita proximální ulnární epifýzy CANDIDATE en cs HP:0010602 IAO:0000115 An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy). Abnormální převaha svalových vláken typu II (obecně lze tuto vlastnost pozorovat pouze ve svalové biopsii) OFFICIAL en cs HP:0010602 rdfs:label Type 2 muscle fiber predominance Převaha svalových vláken typu 2 OFFICIAL -en cs HP:0010603 IAO:0000115 A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour. Bengní, jedno či vícecystický intraoseální tumor odontogenního původu, s charakteristickým lemem parakeratinizovaného dlaždicového epitelu a s potenciálem k agresivnímu, infiltrativnímu růstu. OFFICIAL +en cs HP:0010603 IAO:0000115 A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behavior. Bengní, jedno či vícecystický intraoseální tumor odontogenního původu, s charakteristickým lemem parakeratinizovaného dlaždicového epitelu a s potenciálem k agresivnímu, infiltrativnímu růstu. CANDIDATE en cs HP:0010603 rdfs:label Odontogenic keratocysts of the jaw Odontogenní keratocysty čelisti OFFICIAL en cs HP:0010604 rdfs:label Cyst of the eyelid Cysty očních víček OFFICIAL en cs HP:0010605 IAO:0000115 A chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland. A chalazion or meibomian cyst appears as a painless tuberous swelling in the upper lid without loss of eyelashes. Chronický granulomatózní zánět s epiteloidními buňkami postihující meibomské žlázy z důvodu upchání jejich vývodu. Chalazion, neboli meibomská cysta se projeví jako nebolestivý, tuberózní útvar horního víčka bez ztráty řas. OFFICIAL @@ -12431,7 +12431,7 @@ en cs HP:0010638 rdfs:label Elevated alkaline phosphatase of hepatic origin Zvý en cs HP:0010639 IAO:0000115 An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. Abnormálně zvýšená hladina kostní izoformy alkalické fosfatázy, tkáňově nespecifického izozymu v krvi OFFICIAL en cs HP:0010639 rdfs:label Elevated alkaline phosphatase of bone origin Zvýšení alkalické fosfatázy kostního původu OFFICIAL en cs HP:0010640 IAO:0000115 Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures). Abnormalita nosní dutiny, která začína vpředu nozdry a končí vzádu choanami. OFFICIAL -en cs HP:0010640 rdfs:label Abnormality of the nasal cavity Abnormalita nosní dutiny OFFICIAL +en cs HP:0010640 rdfs:label Abnormal nasal cavity morphology Abnormalita nosní dutiny CANDIDATE en cs HP:0010641 IAO:0000115 Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae. Abnormalita středního nosního průchodu (meatus nasi medius) – prostoru mezi střední a dolní skořepou. OFFICIAL en cs HP:0010641 rdfs:label Abnormality of the midnasal cavity Abnormalita středního nosního průchodu OFFICIAL en cs HP:0010643 IAO:0000115 Absence or abnormal closure of the midnasal cavity. Absence nebo abnormální uzávěr středního nosního meátu. OFFICIAL @@ -12598,7 +12598,7 @@ en cs HP:0010731 IAO:0000115 The eyebrows extend towards - or even all the way d en cs HP:0010731 rdfs:label Extension of eyebrows towards upper eyelid Prodloužení obočí směrem k hornímu víčku OFFICIAL en cs HP:0010732 IAO:0000115 Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more. Nodulární změny postihující oční víčka, které můžou mít různé příčiny jako cystické léze (chalazion, hordeolum), lipogranulomy, melanom, infekční nemoci (molluscum contagiosum) a mnoho dalších. OFFICIAL en cs HP:0010732 rdfs:label Nodular changes affecting the eyelids Nodulární změny postihující oční víčka OFFICIAL -en cs HP:0010733 IAO:0000115 Naevus flammeus localised in the skin of the eyelid. Nevus flammeus lokalizovaný na kůži víčka OFFICIAL +en cs HP:0010733 IAO:0000115 Naevus flammeus localized in the skin of the eyelid. Nevus flammeus lokalizovaný na kůži víčka CANDIDATE en cs HP:0010733 rdfs:label Naevus flammeus of the eyelid Nevus flammeus očního víčka OFFICIAL en cs HP:0010734 IAO:0000115 Tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone or bones may be involved. Fibrous dysplasia can either effect isolated bones (Monostotic fibrous dysplasia) or also generalized all bones of the body (Polyostotic fibrous dysplasia). Nádorové výrůstky, které spočívají v nahrazení medulární kosti fibrózní tkání, což způsobuje rozšíření a oslabení postižených oblastí kosti. Zejména při postižení lebky nebo obličejových kostí mohou léze způsobit navenek viditelné deformace. Často, ale ne nutně pokaždé, bývá postižena lebka a postižena může být i jakákoli jiná kost nebo kosti. Fibrózní dysplázie může postihovat buď izolované kosti (monostotická fibrózní dysplázie), nebo také generalizovaně všechny kosti těla (polyostotická fibrózní dysplázie). OFFICIAL en cs HP:0010734 rdfs:label Fibrous dysplasia of the bones Fibrózní dysplázie kostí OFFICIAL @@ -12756,7 +12756,7 @@ en cs HP:0010816 IAO:0000115 Epidermal naevi are due to an overgrowth of the epi en cs HP:0010816 rdfs:label Epidermal nevus Epidermální névus OFFICIAL en cs HP:0010817 IAO:0000115 A type of nevus sebaceous with a linear form, raised borders and yellowish color. Typ naevus sebaceous lineárního uspořádání, se zvýšeným ohraničením a žlutavou barvou. OFFICIAL en cs HP:0010817 rdfs:label Linear nevus sebaceous Lineární nevus sebaceous OFFICIAL -en cs HP:0010818 IAO:0000115 A generalized tonic seizure is a type of generalized motor seizure characterised by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities. Generalizovaný tonický záchvat je typ generalizovaného motorického záchvatu charakterizovaného oboustranným ztuhnutím nebo elevací končetin, často se ztuhnutím krku bez následné klonické fáze. Tonická aktivita může mít podobu trvalé abnormální polohy, a to buď v extenzi, nebo ve flexi, někdy doprovázené třesem končetin OFFICIAL +en cs HP:0010818 IAO:0000115 A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities. Generalizovaný tonický záchvat je typ generalizovaného motorického záchvatu charakterizovaného oboustranným ztuhnutím nebo elevací končetin, často se ztuhnutím krku bez následné klonické fáze. Tonická aktivita může mít podobu trvalé abnormální polohy, a to buď v extenzi, nebo ve flexi, někdy doprovázené třesem končetin CANDIDATE en cs HP:0010818 rdfs:label Generalized tonic seizure Generalizované tonické křeče OFFICIAL en cs HP:0010819 IAO:0000115 Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature. Atonický záchvat je typ motorického záchvatu charakterizovaný náhlou ztrátou nebo snížením svalového tonu bez zjevné předchozí myoklonické nebo tonické příhody trvající přibližně 1 až 2 sekundy, která se týká svalstva hlavy, trupu, čelistí nebo končetin. OFFICIAL en cs HP:0010819 rdfs:label Atonic seizure Atonické záchvaty OFFICIAL @@ -13312,17 +13312,17 @@ en cs HP:0011110 rdfs:label Recurrent tonsillitis Recidivující tonzilitida OFF en cs HP:0011111 IAO:0000115 An abnormality of the concentration or function of circulating immune proteins. Abnormalita v koncentraci nebo funkci cirkulujících imunitních proteinů OFFICIAL en cs HP:0011111 rdfs:label Abnormal immune serum protein physiology Abnormalita fyziologie proteinů imunitního séra CANDIDATE en cs HP:0011112 IAO:0000115 Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells. Abnormalita hladin cytokinů v krvi, tj. abnormalita některého z neprotilátkových proteinů vytvářených zánětlivými leukocyty a některými neleukocytárními buňkami, které ovlivňují chování jiných buněk. OFFICIAL -en cs HP:0011112 rdfs:label Abnormality of serum cytokine level Abnormalita hladiny sérových cytokinů OFFICIAL +en cs HP:0011112 rdfs:label Abnormal circulating cytokine concentration Abnormalita hladiny sérových cytokinů CANDIDATE en cs HP:0011113 IAO:0000115 An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells). Abnormální produkce nebo uvolňování cytokinu (tj. některého z proteinů, které nejsou protilátkami a které jsou tvořeny zánětlivými leukocyty a některými neleukocytárními buňkami a ovlivňují chování jiných buněk) OFFICIAL en cs HP:0011113 rdfs:label Abnormality of cytokine secretion Abnormalita v sekreci cytokinu OFFICIAL en cs HP:0011114 IAO:0000115 An impairment in the production by leukocytes of NFKB1-dependent cytokines such as tumor necrosis factor-alpha and interferon-alpha. Porucha produkce leukocytů, které jsou závislé na NFKB1 cytokinech, jako je tumor nekrotizující faktor alfa a interferon alfa OFFICIAL en cs HP:0011114 rdfs:label Defective production of NFKB1-dependent cytokines Defektní produkce NFkB1-depedentních cytokinů OFFICIAL en cs HP:0011115 IAO:0000115 An abnormality in the production or cellular release of a chemokine (a class of cytokines). Abnormální produkce nebo uvolňování chemokinu (skupina cytokinů) v buňkách OFFICIAL -en cs HP:0011115 rdfs:label Abnormality of chemokine secretion Abnormalita v sekreci chemokinu OFFICIAL -en cs HP:0011116 IAO:0000115 An abnormality in the production or cellular release of interferons (a class of cytokines). Abnormální produkce nebo uvolňování interferonů (skupina cytokinů) v buňkách OFFICIAL -en cs HP:0011116 rdfs:label Abnormality of interferon secretion Abnormalita v sekreci interferonu OFFICIAL -en cs HP:0011117 IAO:0000115 An abnormality in the production or cellular release of interleukins (a class of cytokines). Abnormální produkce nebo uvolňování interleukinů (skupina cytokinů) v buňkách OFFICIAL -en cs HP:0011117 rdfs:label Abnormality of interleukin secretion Abnormalita sekrece interleukinu OFFICIAL +en cs HP:0011115 rdfs:label Abnormal circulating chemokine concentration Abnormalita v sekreci chemokinu CANDIDATE +en cs HP:0011116 IAO:0000115 The concentration of an interferon is outside the limits of normal. Abnormální produkce nebo uvolňování interferonů (skupina cytokinů) v buňkách CANDIDATE +en cs HP:0011116 rdfs:label Abnormal circulating interferon concentration Abnormalita v sekreci interferonu CANDIDATE +en cs HP:0011117 IAO:0000115 The concentration of an interleukin (a class of cytokines) is outside the limits of normal. Abnormální produkce nebo uvolňování interleukinů (skupina cytokinů) v buňkách CANDIDATE +en cs HP:0011117 rdfs:label Abnormal circulating interleukin concentration Abnormalita sekrece interleukinu CANDIDATE en cs HP:0011118 IAO:0000115 An abnormality in the production or cellular release of tumor necrosis factor. Abnormální produkce nebo uvolňování TNF v buňkách OFFICIAL en cs HP:0011118 rdfs:label Abnormality of tumor necrosis factor secretion Abnormalita v sekreci tumor necrosis factor (TNF, faktoru nádorové nekrózy) OFFICIAL en cs HP:0011119 IAO:0000115 An abnormality of the nasal dorsum, also known as the nasal ridge. Abnormální hřbet nosu OFFICIAL @@ -13379,13 +13379,13 @@ en cs HP:0011144 IAO:0000115 A type of age-related cataract consisting of granul en cs HP:0011144 rdfs:label Age-related posterior subcapsular cataract Katarakta subkapulární katarakta způsobená stárnutím OFFICIAL en cs HP:0011145 IAO:0000115 A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed. Záchvat, který se vyskytuje v souvislosti s poškozením mozku (systémovým, toxickým nebo metabolickým) a nemusí se opakovat, když byla odstraněna základní příčina nebo pominula akutní fáze OFFICIAL en cs HP:0011145 rdfs:label Symptomatic seizures Symptomatické křeče Symptomatická epilepsie OFFICIAL -en cs HP:0011146 IAO:0000115 A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event. Dialeptický záchvat je typ záchvatu charakterizovaný převážně sníženou reaktivitou nebo poruchou vědomí s následnou alespoň částečnou amnézií na událost. CANDIDATE +en cs HP:0011146 IAO:0000115 A dialeptic seizure is a type of seizure characterized predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event. Dialeptický záchvat je typ záchvatu charakterizovaný převážně sníženou reaktivitou nebo poruchou vědomí s následnou alespoň částečnou amnézií na událost. CANDIDATE en cs HP:0011146 rdfs:label Dialeptic seizure Dialeptické záchvaty OFFICIAL -en cs HP:0011147 IAO:0000115 A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event. Fokální motorické záchvaty CANDIDATE +en cs HP:0011147 IAO:0000115 A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event. Fokální motorické záchvaty CANDIDATE en cs HP:0011147 rdfs:label Typical absence seizure Typické absence OFFICIAL -en cs HP:0011149 IAO:0000115 An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterised by forced upward jerking of the eyelids during an absence seizure. Absenční záchvaty doprovázené krátkými, opakujícími se, často rytmickými, rychlými (4-6 Hz) myoklonickými záškuby očních víček se současným vychýlením očních bulbů nahoru a extenzí hlavy. Záchvaty jsou obvykle velmi krátké (trvání méně než 6 sekund) a vícenásobné záchvaty se vyskytují denně. Vědomí je většinou zachováno. CANDIDATE +en cs HP:0011149 IAO:0000115 An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterized by forced upward jerking of the eyelids during an absence seizure. Absenční záchvaty doprovázené krátkými, opakujícími se, často rytmickými, rychlými (4-6 Hz) myoklonickými záškuby očních víček se současným vychýlením očních bulbů nahoru a extenzí hlavy. Záchvaty jsou obvykle velmi krátké (trvání méně než 6 sekund) a vícenásobné záchvaty se vyskytují denně. Vědomí je většinou zachováno. CANDIDATE en cs HP:0011149 rdfs:label Absence seizure with eyelid myoclonia Absence s myokloniemi víček OFFICIAL -en cs HP:0011150 IAO:0000115 Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterised by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017. Rytmické myoklonické záškuby ramen a paží s tonickou abdukcí, které vedou k postupnému zvedání paží během záchvatu. Myoklonické záškuby jsou typicky oboustranné, ale mohou být i jednostranné nebo asymetrické. Periorální myoklonie a rytmické záškuby hlavy se mohou rovněž objevit. Křeče trvají 10-60 a typicky se objevují denně (ve dne?). Křeče doprovází porucha pozornosti různé závažnosti od kompletní ztráty po zachovanou pozornost CANDIDATE +en cs HP:0011150 IAO:0000115 Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterized by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017. Rytmické myoklonické záškuby ramen a paží s tonickou abdukcí, které vedou k postupnému zvedání paží během záchvatu. Myoklonické záškuby jsou typicky oboustranné, ale mohou být i jednostranné nebo asymetrické. Periorální myoklonie a rytmické záškuby hlavy se mohou rovněž objevit. Křeče trvají 10-60 a typicky se objevují denně (ve dne?). Křeče doprovází porucha pozornosti různé závažnosti od kompletní ztráty po zachovanou pozornost CANDIDATE en cs HP:0011150 rdfs:label Myoclonic absence seizure Myoclonické absence CANDIDATE en cs HP:0011151 IAO:0000115 Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure. Atypická absence trvající déle než 30 minut CANDIDATE en cs HP:0011151 rdfs:label Atypical absence status epilepticus Status epilepticus atypických absencí CANDIDATE @@ -13399,7 +13399,7 @@ en cs HP:0011157 IAO:0000115 A focal sensory seizure is a type seizure beginning en cs HP:0011157 rdfs:label Focal sensory seizure Fokální senzorické záchvaty OFFICIAL en cs HP:0011158 IAO:0000115 A seizure characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones as its first clinical manifestation. Typ fokálního smyslového záchvatu, který se vyznačuje elementárními sluchovými jevy včetně bzučení, zvonění, bubnování nebo jednotlivých tónů. CANDIDATE en cs HP:0011158 rdfs:label Focal sensory seizure with auditory features Fokální sluchové záchvaty CANDIDATE -en cs HP:0011159 IAO:0000115 A type of focal autonomic seizure characterised by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature. Aury s břišním diskomfortem včetně evolnosti, pocitu prázdnoty, těsnosti, kručení, motýlů v břiše, malátnosti, bolesti a hladu, pocit se může propagovat do hrudníku nebo hrdla. Některé jevy mohou odrážet iktální autonomní dysfunkci CANDIDATE +en cs HP:0011159 IAO:0000115 A type of focal autonomic seizure characterized by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature. Aury s břišním diskomfortem včetně evolnosti, pocitu prázdnoty, těsnosti, kručení, motýlů v břiše, malátnosti, bolesti a hladu, pocit se může propagovat do hrudníku nebo hrdla. Některé jevy mohou odrážet iktální autonomní dysfunkci CANDIDATE en cs HP:0011159 rdfs:label Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena Epigastrické aury CANDIDATE en cs HP:0011160 IAO:0000115 A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes as its first clinical manifestation. Aura s chuťovými vjemy typu kyselé, hořké, slané, sladké nebo kovové chutě CANDIDATE en cs HP:0011160 rdfs:label Focal sensory seizure with gustatory features Fokální chuťové záchvaty CANDIDATE @@ -13407,7 +13407,7 @@ en cs HP:0011161 IAO:0000115 Seizures characterized by olfactory phenomena as it en cs HP:0011161 rdfs:label Focal sensory seizure with olfactory features Čichová aura CANDIDATE en cs HP:0011163 IAO:0000115 A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move as its first clinical manifestation. Aura s pocitem brnění, necitlivosti, elektrickým šokem, bolestí, smyslem pro pohyb nebo touhou po pohybu CANDIDATE en cs HP:0011163 rdfs:label Focal sensory seizure with somatosensory features Somatosenzorické aury CANDIDATE -en cs HP:0011165 IAO:0000115 A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation. Aury s pocitem blikání nebo blikajících světel, skvrn, jednoduchých vzorů, skotomů nebo amaurózy CANDIDATE +en cs HP:0011165 IAO:0000115 A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation. Aury s pocitem blikání nebo blikajících světel, skvrn, jednoduchých vzorů, skotomů nebo amaurózy CANDIDATE en cs HP:0011165 rdfs:label Focal sensory seizure with visual features Vizuální aura CANDIDATE en cs HP:0011166 IAO:0000115 A type of focal motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. Typ fokálního motorického záchvatu charakterizovaného náhlou, krátkou (100 ms) mimovolní jednorázovou nebo vícenásobnou kontrakcí svalů nebo svalových skupin s různou topografií (axiální, proximální končetiny, distální). Myoklonus je méně pravidelně se opakující a méně trvalý než klonus. CANDIDATE en cs HP:0011166 rdfs:label Focal myoclonic seizure Fokální myoklonické záchvaty CANDIDATE @@ -13415,7 +13415,7 @@ en cs HP:0011167 IAO:0000115 A type of focal motor seizure characterized by sust en cs HP:0011167 rdfs:label Focal tonic seizure Fokální tonické křeče OFFICIAL en cs HP:0011168 IAO:0000115 Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures. Fokální křeče s myokloniemi víček, nikoliv myoklonie víček v kontextu absencí OFFICIAL en cs HP:0011168 rdfs:label Focal seizure with eyelid myoclonia Myoklonie víček CANDIDATE -en cs HP:0011169 IAO:0000115 Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups. Záchvaty s pravidelně se opakujícím myoklonusem, zahrnujícím stejné svalové skupiny, s frekvencí asi 2-3 c/sec. CANDIDATE +en cs HP:0011169 IAO:0000115 Generalized clonic seizure is a type of generalized motor seizure characterized by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups. Záchvaty s pravidelně se opakujícím myoklonusem, zahrnujícím stejné svalové skupiny, s frekvencí asi 2-3 c/sec. CANDIDATE en cs HP:0011169 rdfs:label Generalized clonic seizure Generalizované klonické křeče OFFICIAL en cs HP:0011170 IAO:0000115 A generalized myoclonic-atonic seizure is a type of generalized motor seizure characterized by a myoclonic jerk followed by an atonic motor component. Záchvaty s náhlou ztrátou nebo snížením svalového tonu s předchozí myoklonickou nebo tonickou událostí trvající jednu až dvě sekundy nebo déle, zahrnující svaly hlavy, trupu, čelisti nebo končetin CANDIDATE en cs HP:0011170 rdfs:label Generalized myoclonic-atonic seizure Myoklonicko-atonické záchvaty CANDIDATE @@ -13427,7 +13427,7 @@ en cs HP:0011173 IAO:0000115 A type of focal non-motor seizure characterized by en cs HP:0011173 rdfs:label Focal behavior arrest seizure Hypokinetické křeče CANDIDATE en cs HP:0011174 IAO:0000115 A focal seizure characterized at onset by predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrusting, thrashing, rocking movements. Záchvaty se zvýšenou rychlostí probíhajících pohybů nebo nepřiměřeně rychlým provedením pohybu zahrnujícího převážně proximální končetiny nebo axiální svaly produkující nepravidelné sekvenční balistické pohyby, jako je šlapání do pedálů, údery pánve, houpavé pohyby CANDIDATE en cs HP:0011174 rdfs:label Focal hyperkinetic seizure Hyperkinetické křeče CANDIDATE -en cs HP:0011175 IAO:0000115 A type of focal motor seizure characterised by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation. Tonické záchvaty s trvalou, nuceně konjugovanou rotací oka, hlavy a/nebo trupu nebo laterální odchylkou od střední linie. CANDIDATE +en cs HP:0011175 IAO:0000115 A type of focal motor seizure characterized by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation. Tonické záchvaty s trvalou, nuceně konjugovanou rotací oka, hlavy a/nebo trupu nebo laterální odchylkou od střední linie. CANDIDATE en cs HP:0011175 rdfs:label Focal motor seizure with version Verzivní křeče CANDIDATE en cs HP:0011176 IAO:0000115 An EEG with constitutional variants contains waves that are rare or unusual but not generally pathologic. EEG záznam s konstitučními variantami a vlnami které jsou neobvyklé, ale který nelze považovat za patologický OFFICIAL en cs HP:0011176 rdfs:label EEG with constitutional variants EEG s konstitučními variantami OFFICIAL @@ -13783,7 +13783,7 @@ en cs HP:0011356 IAO:0000115 An abnormality of the skin that is restricted to a en cs HP:0011356 rdfs:label Regional abnormality of skin Regionální abnormalita kůže OFFICIAL en cs HP:0011358 IAO:0000115 Reduced pigmentation of hair diffusely. Difuzně snížená pigmentace vlasů OFFICIAL en cs HP:0011358 rdfs:label Generalized hypopigmentation of hair Generalizovaná hypopigmentace vlasů OFFICIAL -en cs HP:0011359 IAO:0000115 Hair that lacks the lustre (shine or gleam) of normal hair. Vlasy, které postrádají lesk normálních vlasů. OFFICIAL +en cs HP:0011359 IAO:0000115 Hair that lacks the luster (shine or gleam) of normal hair. Vlasy, které postrádají lesk normálních vlasů. CANDIDATE en cs HP:0011359 rdfs:label Dry hair Suché vlasy OFFICIAL en cs HP:0011360 IAO:0000115 An abnormality of the distribution of hair growth that is acquired during the course of life. Abnormalita v rozložení vlasového porostu, která vzniká v průběhu života. OFFICIAL en cs HP:0011360 rdfs:label Acquired abnormal hair pattern Získané abnormální rozložení vlasů OFFICIAL @@ -13878,7 +13878,7 @@ en cs HP:0011409 rdfs:label Abnormal placental membrane morphology Abnormální en cs HP:0011410 IAO:0000115 Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy). Porod plodu pomocí chirurgických řezů provedených přes břišní stěnu (laparotomie) a děložní stěnu (hysterotomie). OFFICIAL en cs HP:0011410 rdfs:label Caesarian section Císařský řez OFFICIAL en cs HP:0011411 rdfs:label Forceps delivery Klešťový porod OFFICIAL -en cs HP:0011412 IAO:0000115 Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately. Porod novorozence pomocí vakuové pumpy, která se používá k asistovanému porodu v případě, že druhá doba porodní dostatečně nepostupuje. OFFICIAL +en cs HP:0011412 IAO:0000115 Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labor has not progressed adequately. Porod novorozence pomocí vakuové pumpy, která se používá k asistovanému porodu v případě, že druhá doba porodní dostatečně nepostupuje. CANDIDATE en cs HP:0011412 rdfs:label Ventouse delivery Porod vakuovou pumpou OFFICIAL en cs HP:0011413 IAO:0000115 Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex. Dystokie raménka vzniká, když přední raménko plodu narazí na symfýzu rodičky následně po porodu hlavičky. OFFICIAL en cs HP:0011413 rdfs:label Shoulder dystocia dystokie raménka OFFICIAL @@ -14780,7 +14780,7 @@ en cs HP:0011889 IAO:0000115 Significant bleeding or hemorrhage without signific en cs HP:0011889 rdfs:label Bleeding with minor or no trauma Krvácení při menším nebo žádném poranění OFFICIAL en cs HP:0011890 IAO:0000115 Prolonged or protracted bleeding following an invasive procedure or intervention. Prodloužené nebo dlouhotrvající krvácení po invazivním zákroku nebo intervenci OFFICIAL en cs HP:0011890 rdfs:label Prolonged bleeding following procedure Prodloužené krvácení po zákroku OFFICIAL -en cs HP:0011891 IAO:0000115 Significant maternal haemorrhage/blood loss following deilvery of a child. Významné krvácení či krevní ztárta u matky po porodu OFFICIAL +en cs HP:0011891 IAO:0000115 Significant maternal hemorrhage/blood loss following deilvery of a child. Významné krvácení či krevní ztárta u matky po porodu CANDIDATE en cs HP:0011891 rdfs:label Post-partum hemorrhage Poporodní krvácení OFFICIAL en cs HP:0011892 IAO:0000115 The concentration of vitamin K in the blood circulation is below the lower limit of normal. Snížená koncentrace vitaminu K CANDIDATE en cs HP:0011892 rdfs:label Decreased circulating vitamin K concentration Nízká hladina vitaminu K CANDIDATE @@ -14907,7 +14907,7 @@ en cs HP:0011954 IAO:0000115 Diffuse benign transformation of the hepatic parenc en cs HP:0011954 rdfs:label Nodular regenerative hyperplasia of liver Nodulární regenerativní hyperplázie jater OFFICIAL en cs HP:0011955 IAO:0000115 The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes. Přítomnost mnohočetných granulomů v játrech na základě patologického vyšetření. Granulomy jsou malé 0,5 až 2 mm velké shluky modifikovaných makrofágů nazývaných epiteloidní buňky obvykle obklopené lymfocyty. OFFICIAL en cs HP:0011955 rdfs:label Hepatic granulomatosis Jaterní granulomatóza OFFICIAL -en cs HP:0011956 IAO:0000115 A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine. Lymfoproliferativní abnormalita střeva charakterizovaná četnými viditelnými slizničními uzlíky o průměru do 0,5 cm a zřídka přesahujícími tento průměr. Histologicky jsou v lamina propria a povrchové submukóze patrné hyperplastické lymfoidní folikuly s velkými zárodečnými centry. Dochází ke zvětšení slizničních B-buněčných folikulů způsobenému hyperplázií folikulárních center. Jsou obklopeny normálně vypadající plášťovou zónou. Onemocnění může postihnout žaludek, celé tenké střevo a tlusté střevo. OFFICIAL +en cs HP:0011956 IAO:0000115 A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centers are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centers; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine. Lymfoproliferativní abnormalita střeva charakterizovaná četnými viditelnými slizničními uzlíky o průměru do 0,5 cm a zřídka přesahujícími tento průměr. Histologicky jsou v lamina propria a povrchové submukóze patrné hyperplastické lymfoidní folikuly s velkými zárodečnými centry. Dochází ke zvětšení slizničních B-buněčných folikulů způsobenému hyperplázií folikulárních center. Jsou obklopeny normálně vypadající plášťovou zónou. Onemocnění může postihnout žaludek, celé tenké střevo a tlusté střevo. CANDIDATE en cs HP:0011956 rdfs:label Intestinal lymphoid nodular hyperplasia Střevní lymfoidní nodulární hyperplázie OFFICIAL en cs HP:0011957 IAO:0000115 An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major. AAbnormality prsních svalů, mezi které patří velký prsní sval, silný vějířovitý sval přední části hrudníku a malý prsní sval, tenký trojúhelníkový sval umístěný pod velkým prsním svalem. OFFICIAL en cs HP:0011957 rdfs:label Abnormal pectoral muscle morphology Abnormalita prsních svalů CANDIDATE @@ -15113,7 +15113,7 @@ en cs HP:0012058 IAO:0000115 A type of melanoma that starts as a raised area tha en cs HP:0012058 rdfs:label Nodular melanoma Nodulární melanom OFFICIAL en cs HP:0012059 IAO:0000115 A subtype of melanoma in situ that typically develops on sun-damaged skin. The lesion is typically a large, irregularly pigmented macule that has developed from an ordinary lentigo (a small pigmented spot on the skin with a clearly-defined edge). Change to a malignant lentigo typically takes place over 20 years or more, and many patients accept the change as a consequence of aging. Podtyp melanomu in situ, který se obvykle vyvíjí na kůži poškozené sluncem. Léze je zpravidla velká, nepravidelně pigmentovaná makula, která se vyvinula z obyčejného lentiga (malá pigmentovaná skvrna na kůži s jasně ohraničeným okrajem). Ke změně na lentigo maligna obvykle dochází po 20 a více letech a mnoho pacientů tuto změnu bere jako důsledek stárnutí. OFFICIAL en cs HP:0012059 rdfs:label Lentigo maligna melanoma Lentigo maligna melanom OFFICIAL -en cs HP:0012060 IAO:0000115 A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed. Typ kožního melanomu lokalizovaného na dlani, chodidle nebo pod nehtem (subungvální melanom). Akrální lentiginózní melanom začíná jako pomalu se zvětšující plochá skvrna odbarvené kůže a obvykle vykazuje velikost nad 6 mm a často několik centimetrů nebo více v průměru po diagnóze a variabilní pigmentaci se směsí barev včetně hnědé, modrošedé, černé a červené. Povrch léze je zpočátku hladký, ale později se může stát silnější a nepravidelný a může ulcerovat nebo krvácet OFFICIAL +en cs HP:0012060 IAO:0000115 A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discolored skin and usually displays a size above 6 mm and often several centimeters or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed. Typ kožního melanomu lokalizovaného na dlani, chodidle nebo pod nehtem (subungvální melanom). Akrální lentiginózní melanom začíná jako pomalu se zvětšující plochá skvrna odbarvené kůže a obvykle vykazuje velikost nad 6 mm a často několik centimetrů nebo více v průměru po diagnóze a variabilní pigmentaci se směsí barev včetně hnědé, modrošedé, černé a červené. Povrch léze je zpočátku hladký, ale později se může stát silnější a nepravidelný a může ulcerovat nebo krvácet CANDIDATE en cs HP:0012060 rdfs:label Acral lentiginous melanoma Akrální lentiginózní melanom OFFICIAL en cs HP:0012061 IAO:0000115 Excretion of oligosaccharides conjugated to sialic acid in the urine. Vylučování oligosacharidů konjugovaných s kyselinou sialovou močí. OFFICIAL en cs HP:0012061 rdfs:label Urinary excretion of sialylated oligosaccharides Vylučování sialylovaných oligosacharidů do moči OFFICIAL @@ -15248,7 +15248,7 @@ en cs HP:0012126 IAO:0000115 A cancer arising in any part of the stomach. Karcin en cs HP:0012126 rdfs:label Stomach cancer Karcinom žaludku OFFICIAL en cs HP:0012127 IAO:0000115 Increased concentration of uracil in the urine. Zvýšená koncentrace uracilu v moči OFFICIAL en cs HP:0012127 rdfs:label Uraciluria Uracylurie OFFICIAL -en cs HP:0012128 IAO:0000115 Death of cells in the basal ganglia. Odúmrtí buněk bazálních ganglií OFFICIAL +en cs HP:0012128 IAO:0000115 Death of cells in the basal ganglia. This finding can be confirmed by autopsy. It can be suspected with hyperintensities within the basal ganglia on FLAIR and T2-sequences on magnetic resonance imaging. Odúmrtí buněk bazálních ganglií CANDIDATE en cs HP:0012128 rdfs:label Basal ganglia necrosis Nekróza bazálních ganglií OFFICIAL en cs HP:0012129 rdfs:label Abnormality of bone marrow stromal cells Abnormalita stromálních buněk kostní dřeně OFFICIAL en cs HP:0012130 IAO:0000115 An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes. Anomálie buněk erytroidní linie, která zahrňuje linii erytropoetických buňek až k erytrocytům včetně OFFICIAL @@ -15945,7 +15945,7 @@ en cs HP:0012488 IAO:0000115 An arachnoid cyst located within the ventricular sy en cs HP:0012488 rdfs:label Intraventricular arachnoid cyst Intraventrikulární arachnoidální cysta OFFICIAL en cs HP:0012489 IAO:0000115 An arachnoid cyst that progressively enlarges from an abnormality in the membrane of Liliequist or in the interpeduncular cistern, and typically, expands from the prepontine space, displacing the floor of the third ventricle upwards, the pituitary stalk and optic chiasm upwards and forwards, and the mammillary bodies upwards and backwards. Arachnoidální cysta, která se postupně zvětšuje v důsledku abnormality v Liliequistově membráně nebo v interpedunkulární cisterně a obvykle se rozšiřuje z prepontinního prostoru a vytlačuje dno třetí komory nahoru, stopku hypofýzy a optické chiasma nahoru a dopředu a mamilární tělíska nahoru a dozadu. OFFICIAL en cs HP:0012489 rdfs:label Suprasellar arachnoid cyst Supraselární arachnoidální cysta OFFICIAL -en cs HP:0012490 IAO:0000115 Inflammation of adipose tissue. Zánět tukové tkáně OFFICIAL +en cs HP:0012490 IAO:0000115 Inflammation of subcutaneous adipose tissue. Zánět tukové tkáně CANDIDATE en cs HP:0012490 rdfs:label Panniculitis Panikulitida OFFICIAL en cs HP:0012491 IAO:0000115 An anomaly of the intracellular membrane complexes known as the dense tubular system. Anomálie intracelulárních membránových komplexů známých jako denzní tubulární systém OFFICIAL en cs HP:0012491 rdfs:label Abnormal dense tubular system Abnormální denzní tubulární systém OFFICIAL @@ -15999,8 +15999,8 @@ en cs HP:0012515 IAO:0000115 Reduced ability to flex the femur, that is, to pull en cs HP:0012515 rdfs:label Hip flexor weakness Slabost flexorů kyčle OFFICIAL en cs HP:0012516 IAO:0000115 An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries. Extrémní forma Fallotovy tetralogie charakterizované absencí průtoku z pravé komory na plicních tepen OFFICIAL en cs HP:0012516 rdfs:label Tetralogy of Fallot with pulmonary atresia Fallotova Tetralogie s plicní atrézií OFFICIAL -en cs HP:0012517 IAO:0000115 An abnormally decreased amount of catalase level. Abnormálně snížené množství hladiny katalázy OFFICIAL -en cs HP:0012517 rdfs:label Reduced catalase level Snížená hladina katalázy OFFICIAL +en cs HP:0012517 IAO:0000115 Activity or concentration of catalase in the blood circulation below the lower limit of normal. Abnormálně snížené množství hladiny katalázy CANDIDATE +en cs HP:0012517 rdfs:label Reduced circulating catalase activity Snížená hladina katalázy CANDIDATE en cs HP:0012518 IAO:0000115 An anomaly of the circle of Willis, also known as the cerebral arterial circle. Anomálie Willisova okruhu, taktíž známeho jako circulus arteriosus cerebri OFFICIAL en cs HP:0012518 rdfs:label Abnormal circle of Willis morphology Abnormální morfologie Willisova okruhu OFFICIAL en cs HP:0012519 IAO:0000115 A developmental anomnaly characterized by underdevelopment of the posterior communicating artery. Hypoplastické zadní komunikující tepny CANDIDATE @@ -16017,7 +16017,7 @@ en cs HP:0012524 IAO:0000115 A deviation from the normal discoid platelet shape. en cs HP:0012524 rdfs:label Abnormal platelet shape Abnormální tvar krevních destiček OFFICIAL en cs HP:0012525 IAO:0000115 An anomalous location and arrangement of platelet alpha granules. Anomální umístění a uspořádání destičkových alfa granulí OFFICIAL en cs HP:0012525 rdfs:label Abnormal alpha granule distribution Abnormální distribuce alfa granul OFFICIAL -en cs HP:0012526 IAO:0000115 A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears. Nedostatek alfa granulí krevních destiček. To obvykle vede k šedému vzhledu krevních destiček v krevních nátěrech obarvených giemsou. OFFICIAL +en cs HP:0012526 IAO:0000115 A lack of platelet alpha granules. This typically results in the gray appearance of platelets in giemsa stained blood smears. Nedostatek alfa granulí krevních destiček. To obvykle vede k šedému vzhledu krevních destiček v krevních nátěrech obarvených giemsou. CANDIDATE en cs HP:0012526 rdfs:label Absence of alpha granules Chybění alfa granul OFFICIAL en cs HP:0012527 IAO:0000115 A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor. Odchylka od normálního obsahu alfa granulí krevních destiček, které normálně obsahují hemostatické proteiny, jako je fibrinogen, von Willebrandův faktor a růstové faktory, jako je růstový faktor z destiček. OFFICIAL en cs HP:0012527 rdfs:label Abnormal alpha granule content Abnormální obsah alfa granul destiček OFFICIAL @@ -16552,7 +16552,7 @@ en cs HP:0012794 IAO:0000115 Multiple areas of darker than expected signal on ma en cs HP:0012794 rdfs:label Periventricular white matter hypodensities Hypodenzita periventrikulární bílé hmoty mozkové OFFICIAL en cs HP:0012795 IAO:0000115 A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination. Morfologická abnormalita zrakového disku, tj. části zrakového nervu, která je klinicky viditelná při fundoskopickém vyšetření. OFFICIAL en cs HP:0012795 rdfs:label Abnormal optic disc morphology Abnormální morfologie optického disku OFFICIAL -en cs HP:0012796 IAO:0000115 An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells. Zvýšení poměru průměru pohárku očního disku k celkovému průměru disku. Disk zrakového nervu má oranžově růžový okraj se světlým středem (pohárek), který neobsahuje neuroretinální tkáň. Zvýšení tohoto poměru může znamenat snížení množství zdravých neuroretinálních buněk. OFFICIAL +en cs HP:0012796 IAO:0000115 An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disk. The optic disc has an orange-pink rim with a pale center (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells. Zvýšení poměru průměru pohárku očního disku k celkovému průměru disku. Disk zrakového nervu má oranžově růžový okraj se světlým středem (pohárek), který neobsahuje neuroretinální tkáň. Zvýšení tohoto poměru může znamenat snížení množství zdravých neuroretinálních buněk. CANDIDATE en cs HP:0012796 rdfs:label Increased cup-to-disc ratio Zvýšený poměr pohárku k disku OFFICIAL en cs HP:0012797 IAO:0000115 A benign or malignant neoplasm arising from the lymphatic vessels. Nezhoubný nebo zhoubný novotvar vycházející z lymfatických cév OFFICIAL en cs HP:0012797 rdfs:label Lymphatic vessel neoplasm Neoplázie lymfatických cév OFFICIAL @@ -16786,7 +16786,7 @@ en cs HP:0020038 IAO:0000115 Elongation, dilatation, and/or tortuosity of the ve en cs HP:0020038 rdfs:label Vertebrobasilar dolichoectasia Vertebrobazilární dolichoektázie OFFICIAL en cs HP:0020041 IAO:0000115 A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia. Typ inkomitantního strabismu, při kterém jsou oba elevátorové svaly (tj. musculus obliquus inferior a musculus rectus superior) stejného oka slabé, což vede k omezené elevaci a hypotropii. OFFICIAL en cs HP:0020041 rdfs:label Double elevator palsy Dvojitá paréza elevátorů OFFICIAL -en cs HP:0020042 IAO:0000115 An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye. Abnormalní pohyb očí charakterizovaný současnou slabostí musculus rectus inferior a musculus obliquus superior téhož oka. OFFICIAL +en cs HP:0020042 IAO:0000115 An ocular movement abnormality characterized by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye. Abnormalní pohyb očí charakterizovaný současnou slabostí musculus rectus inferior a musculus obliquus superior téhož oka. CANDIDATE en cs HP:0020042 rdfs:label Double depressor palsy Dvojitá paréza depresorů OFFICIAL en cs HP:0020043 IAO:0000115 A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts upwards and/or downwards. Typ inkomitantního strabismu, při kterém se úhel odchylky mění podle toho, jak se pohled pacienta posouvá nahoru a/nebo dolů. OFFICIAL en cs HP:0020043 rdfs:label Vertical incomitant strabismus Vertikální inkomitantní strabismus OFFICIAL @@ -16815,8 +16815,8 @@ en cs HP:0020061 IAO:0000115 Any deviation from the normal concentration of hemo en cs HP:0020061 rdfs:label Abnormal hemoglobin concentration Abnormální koncentrace hemoglobinu OFFICIAL en cs HP:0020062 IAO:0000115 An abnormal reduction below normal hemoglobin concentration in the circulation. Abnormální snížení koncentrace hemoglobinu v oběhu pod normální hodnotu OFFICIAL en cs HP:0020062 rdfs:label Decreased hemoglobin concentration Snížená koncentrace hemoglobinu OFFICIAL -en cs HP:0020063 IAO:0000115 An abnormal elevation above normal hemoglobin concentration in the circulation. Abnormální zvýšení koncentrace hemoglobinu v oběhu nad normální hodnoty OFFICIAL -en cs HP:0020063 rdfs:label Increased hemoglobin concentration Zvýšená koncentrace hemoglobinu OFFICIAL +en cs HP:0020063 IAO:0000115 An abnormal elevation above normal hemoglobin concentration in the circulation Abnormální zvýšení koncentrace hemoglobinu v oběhu nad normální hodnoty OFFICIAL +en cs HP:0020063 rdfs:label obsolete Increased hemoglobin concentration Zvýšená koncentrace hemoglobinu CANDIDATE en cs HP:0020064 IAO:0000115 Any deviation from the normal number of eosinophils per volume in the blood circulation. Jakákoli odchylka od normálního počtu eozinofilů na objem v krevním oběhu OFFICIAL en cs HP:0020064 rdfs:label Abnormal eosinophil count Abnormální počet eozinofilů OFFICIAL en cs HP:0020071 IAO:0000115 The presence of virus in the blood. Přítomnost viru v krvi OFFICIAL @@ -16875,7 +16875,7 @@ en cs HP:0020100 IAO:0000115 An unusual fungal infection that is regarded as a s en cs HP:0020100 rdfs:label Unusual fungal infection Neobvyklá houbová infekce CANDIDATE en cs HP:0020101 IAO:0000115 Fungal infection characterized by invasion of host tissues. Houbová infekce charakterizovaná invazí do hostitelské tkáně CANDIDATE en cs HP:0020101 rdfs:label Invasive fungal infection Invazivní houbová infekce CANDIDATE -en cs HP:0020102 IAO:0000115 An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnoea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing. Oportunní onemocnění způsobené invazí jednobuněčné houby Pneumocystis jirovecii. K přenosu cyst P. jirovecii dochází vzdušnou cestou a její přítomnost v plicích je obvykle asymptomatická. Lidé s oslabenou imunitou, zejména ti s počtem CD4+ T buněk nižším než 200/mikrolitr, jsou však stále ohroženi vznikem pneumocystové pneumonie v důsledku invaze P. jirovecii. Příznaky vyvolané tímto onemocněním nejsou specifické: progresivní dušnost, neproduktivní kašel, nízká horečka, arteriální parciální tlak kyslíku pod 65 mmHg a oboustranné zastínení intersticia na rentgenových snímcích plic. CANDIDATE +en cs HP:0020102 IAO:0000115 An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing. Oportunní onemocnění způsobené invazí jednobuněčné houby Pneumocystis jirovecii. K přenosu cyst P. jirovecii dochází vzdušnou cestou a její přítomnost v plicích je obvykle asymptomatická. Lidé s oslabenou imunitou, zejména ti s počtem CD4+ T buněk nižším než 200/mikrolitr, jsou však stále ohroženi vznikem pneumocystové pneumonie v důsledku invaze P. jirovecii. Příznaky vyvolané tímto onemocněním nejsou specifické: progresivní dušnost, neproduktivní kašel, nízká horečka, arteriální parciální tlak kyslíku pod 65 mmHg a oboustranné zastínení intersticia na rentgenových snímcích plic. CANDIDATE en cs HP:0020102 rdfs:label Pneumocystis jirovecii pneumonia Pneumonie způsobená Pneumocystis jirovecii CANDIDATE en cs HP:0020103 IAO:0000115 Infection of the lungs with aspergillus. In the respiratory mucosa, the spores may germinate into hyphae, which in turn can invade the mucosa leading to invasive pulmonary aspergillosis. Aspergilová infekce plic. Ve sliznici dýchacích cest mohou spory vyklíčit v hyfy, které se pak mohou invazivni šířit do sliznice a vést k invazivní plicní aspergilóze. CANDIDATE en cs HP:0020103 rdfs:label Invasive pulmonary aspergillosis Invazivní plicní aspergilóza CANDIDATE @@ -17009,8 +17009,8 @@ en cs HP:0020173 IAO:0000115 Decreased response to a drug intervention in compar en cs HP:0020173 rdfs:label Reduced drug efficacy Snížená odpověď na lék CANDIDATE en cs HP:0020174 IAO:0000115 Absent or significantly reduced efficacy of drug intervention characterized by lack of measurable benefit or deterioration of disease course. Chybějící nebo výrazně snížená účinnost lékové intervence charakterizovaná nedostatkem měřitelného přínosu nebo zhoršením průběhu onemocnění. CANDIDATE en cs HP:0020174 rdfs:label Refractory drug response Refrakterní odpověď na lék CANDIDATE -en cs HP:0020175 IAO:0000115 A decreased amount of cholinesterase in the blood circulation. Snížené množství cholinesterázy v krevním oběhu. CANDIDATE -en cs HP:0020175 rdfs:label Reduced cholinesterase level Snížená hladina cholinesterázy CANDIDATE +en cs HP:0020175 IAO:0000115 Activity or concentration of cholinesterase in the blood circulation below the lower limit of normal. Snížené množství cholinesterázy v krevním oběhu. CANDIDATE +en cs HP:0020175 rdfs:label Reduced circulating cholinesterase activity Snížená hladina cholinesterázy CANDIDATE en cs HP:0020176 rdfs:label Cholesterol crystalluria Cholesterolová krystalurie CANDIDATE en cs HP:0020177 IAO:0000115 An abnormal proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative. Abnormální proporce CD8-pozitivních, alfa beta efektorových paměťových RA TEMRA T buněk vzhledem k celkovému počtu T buněk. Tyto buňky mají CD45RA-pozitivní, CD45RO-negativní a CCR7-negativní fenotyp. CANDIDATE en cs HP:0020177 rdfs:label Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells Abnormální proporce CD8-pozitivních alfa beta TEMRA T buněk CANDIDATE @@ -17060,11 +17060,11 @@ en cs HP:0020199 IAO:0000115 A subnormal concentration of 18-Hydroxycorticostero en cs HP:0020199 rdfs:label Decreased circulating 18-hydroxycortisone level Snížená hladina cirkulujícího 18-hydroxykortizonu CANDIDATE en cs HP:0020200 IAO:0000115 An abnormally elevated concentration of 18-Hydroxycorticosterone level in the blood circulation. Abnormálně zvýšená koncentrace 18-hydroxykortikosteronu v krevním oběhu CANDIDATE en cs HP:0020200 rdfs:label Increased circulating 18-hydroxycortisone level Zvýšená hladina cirkulujícího 18-hydroxykortizonu CANDIDATE -en cs HP:0020201 IAO:0000115 Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. Jakákoli strukturální vada sarkomery, jež je základní jednotkou myofibril ve svalové buňce, obsahuje překrývající se tlustá a tenká vlákna mezi dvěma sousedními Z disky CANDIDATE +en cs HP:0020201 IAO:0000115 Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z disks. Jakákoli strukturální vada sarkomery, jež je základní jednotkou myofibril ve svalové buňce, obsahuje překrývající se tlustá a tenká vlákna mezi dvěma sousedními Z disky CANDIDATE en cs HP:0020201 rdfs:label Abnormal sarcomere morphology Abnormální morfologie sarkomery CANDIDATE -en cs HP:0020202 IAO:0000115 Any structural anomaly of the Z disc, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. Jakákoli strukturální vada Z-disku, což je deskovitá oblast sarkomery, ve které jsou ukotveny +konce aktinových vláken CANDIDATE -en cs HP:0020202 rdfs:label Abnormal Z disc morphology Abnormální morfologie Z-disku CANDIDATE -en cs HP:0020203 IAO:0000115 Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disc may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change. Rozšíření či natažení z-disku, který pak již není omezen na úzkou zónu, která protíná I proužek. Z-disk se může klikatě táhnout napříč I proužkem nebo celou sarkomerou. Současně dochází k ohniskovému zesílení a roztažení z-disku. Myofibrilární dezorganizace je častou, ale ne neměnnou doprovodnou změnou CANDIDATE +en cs HP:0020202 IAO:0000115 Any structural anomaly of the Z disk, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. Jakákoli strukturální vada Z-disku, což je deskovitá oblast sarkomery, ve které jsou ukotveny +konce aktinových vláken CANDIDATE +en cs HP:0020202 rdfs:label Abnormal Z disk morphology Abnormální morfologie Z-disku CANDIDATE +en cs HP:0020203 IAO:0000115 Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disk may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change. Rozšíření či natažení z-disku, který pak již není omezen na úzkou zónu, která protíná I proužek. Z-disk se může klikatě táhnout napříč I proužkem nebo celou sarkomerou. Současně dochází k ohniskovému zesílení a roztažení z-disku. Myofibrilární dezorganizace je častou, ale ne neměnnou doprovodnou změnou CANDIDATE en cs HP:0020203 rdfs:label Z-band streaming Rozšíření pásma Z (Z-disku) CANDIDATE en cs HP:0020204 IAO:0000115 Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains. Tubulointersticiální infiltrace bakteriemi identifikovanými při běžném a/nebo speciálním barvení (Brown-Hopps) CANDIDATE en cs HP:0020204 rdfs:label Tubulointerstitial bacterial infiltration Tubulointersticiální bakteriální infiltrace CANDIDATE @@ -17292,7 +17292,7 @@ en cs HP:0025103 IAO:0000115 A type of skin nodule that has a small depression t en cs HP:0025103 rdfs:label Umbilicated nodule Nodulus s centrální vkleslinou OFFICIAL en cs HP:0025104 IAO:0000115 A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules). Kapilární malformace je plochá, ostře ohraničená cévní skvrna na kůži. Může pokrývat velkou plochu nebo může být rozptýlená a jevit se jako malé barevné ostrůvky. U kapilární maformace převažují malé, pomalu proudící cévy (tj. arterioly a postkapilární venuly). CANDIDATE en cs HP:0025104 rdfs:label Capillary malformation Kapilární malformace OFFICIAL -en cs HP:0025105 IAO:0000115 A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anaemic spots. Naevus anemicus je kožní léze charakterizovaná nepravidelnými hypopigmentovanými makulami které splývají do plaků a vyskytují se primárně na hrudníku. Obvykle se vyskytuje při narození nebo se vyvíjí v prvních dnech života. Je častější u žen. Diagnóza je potvrzena aplikací jemného tření na lézi a okolní kůži a kontrolou, zda se erytém produkovaný na zdravé kůži neobjevuje v hypopigmentované lézi. Tato bledá makula se stává nápadnější, když se léze a její okolí třou. Okraj naevu je špatně ohraničený a skládá se ze souostroví malých anemických skvrn. CANDIDATE +en cs HP:0025105 IAO:0000115 A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anemic spots. Naevus anemicus je kožní léze charakterizovaná nepravidelnými hypopigmentovanými makulami které splývají do plaků a vyskytují se primárně na hrudníku. Obvykle se vyskytuje při narození nebo se vyvíjí v prvních dnech života. Je častější u žen. Diagnóza je potvrzena aplikací jemného tření na lézi a okolní kůži a kontrolou, zda se erytém produkovaný na zdravé kůži neobjevuje v hypopigmentované lézi. Tato bledá makula se stává nápadnější, když se léze a její okolí třou. Okraj naevu je špatně ohraničený a skládá se ze souostroví malých anemických skvrn. CANDIDATE en cs HP:0025105 rdfs:label Nevus anemicus Nevus anemicus OFFICIAL en cs HP:0025106 IAO:0000115 A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life. Varianta skvrny barvy portského vína charakterizované bledě červeným nebo dokonce růžovým odstínem, v porovnaní s klasickou skvrnou barvy portského vína. Analogicky se tato skvrna může nazývat skvrna barvy růžového vína nebo naevus roseus. Diagnóza naevus roseus však může být vyslovena až v dospělosti, protože některé skvrny barvy portského vín můžou být ze začátku u dětí růžové. Naevus roseus se v průběhu života nemění, zatímco co skvrna barvy portského vína může hypertrofovat, tmavnout a vznikat na ní uzlíky. OFFICIAL en cs HP:0025106 rdfs:label Nevus roseus Nevus roseus OFFICIAL @@ -17442,11 +17442,11 @@ en cs HP:0025181 IAO:0000115 An abscess-like lesion located within the abdomen. en cs HP:0025181 rdfs:label Abdominal aseptic abscess Břišní aseptický absces OFFICIAL en cs HP:0025182 IAO:0000115 A confined region of lax skin that hangs below the level of the surrounding skin. Histopatholigically, there is a loss of elastic fibers in the dermis of the affected region. Ohraničená oblast ochablé kůže, která visí pod úrovní okolní kůže. Histopatologicky dochází k úbytku elastických vláken v dermis postižené oblasti. OFFICIAL en cs HP:0025182 rdfs:label Localized area of pendulous skin Lokalizovaná oblast převislé kůže OFFICIAL -en cs HP:0025186 IAO:0000115 Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing. Jednostranná ptóza s přidruženou kontrakcí horního víčka a kontrakcí vnějšího nebo vnitřního musculus pterygoideus. Předpokládá se, že k němu dochází v důsledku vrozeného špatného zapojení větve pátého hlavového nervu do větve třetího hlavového nervu zásobujícího musculus levator. U Marcuse Gunn syndromu je elevace a dokonce retrakce postiženého víčka spuštěna žvýkáním, sáním, bočním pohybem dolní čelisti, úsměvem, kontrakcí musculus sternocleidomastoideus, vyplazeným jazykem, Valsalvovým manévrem a dokonce i dýcháním. OFFICIAL +en cs HP:0025186 IAO:0000115 Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva maneuver and even by breathing. Jednostranná ptóza s přidruženou kontrakcí horního víčka a kontrakcí vnějšího nebo vnitřního musculus pterygoideus. Předpokládá se, že k němu dochází v důsledku vrozeného špatného zapojení větve pátého hlavového nervu do větve třetího hlavového nervu zásobujícího musculus levator. U Marcuse Gunn syndromu je elevace a dokonce retrakce postiženého víčka spuštěna žvýkáním, sáním, bočním pohybem dolní čelisti, úsměvem, kontrakcí musculus sternocleidomastoideus, vyplazeným jazykem, Valsalvovým manévrem a dokonce i dýcháním. CANDIDATE en cs HP:0025186 rdfs:label Marcus Gunn jaw winking synkinesis Marcus Gunn syndrom OFFICIAL en cs HP:0025188 IAO:0000115 Inflammation of retinal blood vessels as manifested by perivascular sheathing or cuffing, vascular leakage and/or occlusion. Zánět krevních cév sítnice projevující se perivaskulárním obalem nebo manžetou, prosakováním cév a/nebo okluzí. OFFICIAL en cs HP:0025188 rdfs:label Retinal vasculitis Retinální vaskulitída OFFICIAL -en cs HP:0025190 IAO:0000115 A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterised by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure. Bilaterální tonicko-klonický záchvat s generalizovaným nástupem je typ bilaterálního tonicko-klonického záchvatu, který se vyznačuje generalizovaným nástupem; tyto záchvaty na začátku záchvatu rychle zahrnují obě hemisféry. CANDIDATE +en cs HP:0025190 IAO:0000115 A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterized by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure. Bilaterální tonicko-klonický záchvat s generalizovaným nástupem je typ bilaterálního tonicko-klonického záchvatu, který se vyznačuje generalizovaným nástupem; tyto záchvaty na začátku záchvatu rychle zahrnují obě hemisféry. CANDIDATE en cs HP:0025190 rdfs:label Bilateral tonic-clonic seizure with generalized onset Generalizované tonicko-klonické záchvaty bez fokálního začátku CANDIDATE en cs HP:0025192 IAO:0000115 Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the fourth cerebral ventricle (which is located beneath the tentorium of the cerebellum). Oblasti jasnějšího, než očekávaného signálu na snímcích z magnetické rezonance vycházející z bílé hmoty mozkové, která obklopuje čtvrtou mozkovou komoru (která se nachází pod tentorium cerebelli) OFFICIAL en cs HP:0025192 rdfs:label Subtentorial periventricular white matter hyperdensity Subtentoriální periventrikulární hyperdenzita bílé hmoty OFFICIAL @@ -17821,13 +17821,13 @@ en cs HP:0025387 IAO:0000115 A type of resting tremor characterized by simultane en cs HP:0025387 rdfs:label Pill-rolling tremor Tremor připomínající počítání peněz OFFICIAL en cs HP:0025388 IAO:0000115 "A nodular lesion that develops in the thyroid gland. The term ""thyroid nodule"" refers to any abnormal growth that forms a lump in the thyroid gland." "Nodulární léze vyvíjející se ve štítné žláze. Termín ""Uzel štítné žlázy"" odkazuje na jakýkoli abnormální výrůstek, který tvoří bulku ve štítné žláze." OFFICIAL en cs HP:0025388 rdfs:label Thyroid nodule Uzel štítné žlázy OFFICIAL -en cs HP:0025389 IAO:0000115 High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities. Výpočetní tomografie s vysokým prostorovým rozlišením (HRCT) může rozlišit nálezy, které charakterizují intersticiální plicní onemocnění způsobem, který není možný s jinými modalitami OFFICIAL +en cs HP:0025389 IAO:0000115 High-resolution computed tomography (HRCT) can distinguish findings that characterize characterize interstitial lung diseases in a way not possible with other modalities. Výpočetní tomografie s vysokým prostorovým rozlišením (HRCT) může rozlišit nálezy, které charakterizují intersticiální plicní onemocnění způsobem, který není možný s jinými modalitami CANDIDATE en cs HP:0025389 rdfs:label Pulmonary interstitial high-resolution computed tomography abnormality Pulmonární intersticiální abnormalita patrná na výpočetní tomografii s vysokým prostorovým rozlišením (HRCT) plic OFFICIAL -en cs HP:0025390 IAO:0000115 On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh. Nález na výpočetní tomografii s vysokým prostorovým rozlišením (HRCT) plic, konkrétně retikulární změna typická nespočetnými vzájemně se proplétající stíny připomínající síť OFFICIAL +en cs HP:0025390 IAO:0000115 On pulmonary high-resolution computed tomography, reticular pattern is characterized by innumerable interlacing shadows suggesting a mesh. Nález na výpočetní tomografii s vysokým prostorovým rozlišením (HRCT) plic, konkrétně retikulární změna typická nespočetnými vzájemně se proplétající stíny připomínající síť CANDIDATE en cs HP:0025390 rdfs:label Reticular pattern on pulmonary HRCT Retikulární obraz na HRCT plic OFFICIAL en cs HP:0025391 IAO:0000115 The so-called crazy paving pattern appears as thickened interlobular septa and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones. The crazy-paving pattern is often sharply demarcated from more normal lung and may have a geographic outline. It was originally reported in patients with alveolar proteinosis and is also encountered in other diffuse lung diseases that affect both the interstitial and airspace compartments, such as lipoid pneumonia. Takzvaný obraz dláždění netříděným kamenem (crazy paving) na HRCT je charakterizován přítomností zesílených interlobulárních přepážek a intralobulárních linií superponovaných na pozadí opacit mléčného skla, připomínajícího nepravidelně tvarované dlažební kostky. CANDIDATE en cs HP:0025391 rdfs:label Crazy paving pattern Obraz dláždění netříděným kamenem na HRCT plic CANDIDATE -en cs HP:0025392 IAO:0000115 A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter. Nodulární změny na výpočetné tomografii s vysokým rozlišením (HRCT) plic se vyznačuje přítomností četných zaoblených opacit, které jsou od 2 mm do 1 cm v průměru, v případě mikronodulů je nález definován průmerem menším než 3 mm. OFFICIAL +en cs HP:0025392 IAO:0000115 A nodular pattern is characterized on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter. Nodulární změny na výpočetné tomografii s vysokým rozlišením (HRCT) plic se vyznačuje přítomností četných zaoblených opacit, které jsou od 2 mm do 1 cm v průměru, v případě mikronodulů je nález definován průmerem menším než 3 mm. CANDIDATE en cs HP:0025392 rdfs:label Nodular pattern on pulmonary HRCT Nodulární obraz na HRCT plic OFFICIAL en cs HP:0025393 IAO:0000115 Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography. Současný výskyt retikulárních a mikronodulárních změn na výpočetní tomografii s vysokým rozlišením (HRCT) plic OFFICIAL en cs HP:0025393 rdfs:label Reticulonodular pattern on pulmonary HRCT Retikulonodulární obraz na HRCT plic OFFICIAL @@ -18087,7 +18087,7 @@ en cs HP:0025529 IAO:0000115 A nodule of the skin that exhibits an increased amo en cs HP:0025529 rdfs:label Hyperpigmented nodule Hyperpigmentované noduly OFFICIAL en cs HP:0025530 IAO:0000115 The presence of multiple xanthomas (xanthomata) in the skin distributed in the creases of the palm of the hand. Xanthomas are yellowish, firm, lipid-laden nodules in the skin. Přítomnost mnohočetných xantomů v kůži umístněných v dlaňových rýhách. Xantomy jsou nažloutlé, pevné, lipidy vyplněné uzlíky v kůži OFFICIAL en cs HP:0025530 rdfs:label Xanthomas of the palmar creases Xantomy dlanových rýh OFFICIAL -en cs HP:0025531 IAO:0000115 The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body. Harlekýnský fenomén spočívá v náhlé změně barvy kůže, která má za následek dvě různé barvy těla, jednu na každé polovině těla. OFFICIAL +en cs HP:0025531 IAO:0000115 The Harlequin phenomenon consists of a sudden change in skin color, resulting in two different body colors, one on each half of the body. Harlekýnský fenomén spočívá v náhlé změně barvy kůže, která má za následek dvě různé barvy těla, jednu na každé polovině těla. CANDIDATE en cs HP:0025531 rdfs:label Harlequin phenomenon Fenomén Harlekýn OFFICIAL en cs HP:0025532 IAO:0000115 With the pathergy test, a small, sterile needle is inserted into the skin of the forearm. The site of injectionis circuled and observed after one and two days. If a small red bump or pustule at the site of needle insertion occurs, the pathergy test is considered to have a positive (abnormal) result. Při testu patergie se do kůže předloktí zavede malá sterilní jehla. Místo vpichu se obkrouží a pozoruje se po jednom a dvou dnech. Pokud se v místě vpichu jehly objeví malý červený hrbolek nebo puchýřek, považuje se test patergie za pozitivní (abnormální). OFFICIAL en cs HP:0025532 rdfs:label Positive pathergy test Pozitivní test patergie OFFICIAL @@ -18127,7 +18127,7 @@ en cs HP:0025555 IAO:0000115 Telangiectasia (small dilated blood vessels) locate en cs HP:0025555 rdfs:label Periungual teleangiectasia Periunguální teleangiektázie OFFICIAL en cs HP:0025558 IAO:0000115 Lamellar cataracts with associated linear lens opacities radially extending towards the periphery of the lens. Lamelární katarakta s asociovanými lineárními opacitami čočky radiálně zasahujícím k periferii čočky OFFICIAL en cs HP:0025558 rdfs:label Lamellar cataract with riders Lamelární katarakta s jezdci OFFICIAL -en cs HP:0025559 IAO:0000115 A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown. Typ katarakty charakterizovaný kyjovitými a bodovými opacitami umístěnými radiálně v kortexu. Tyto opacity obklopují jádro a výsledná vzhled připomíná korunu OFFICIAL +en cs HP:0025559 IAO:0000115 A type of cataract characterized by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown. Typ katarakty charakterizovaný kyjovitými a bodovými opacitami umístěnými radiálně v kortexu. Tyto opacity obklopují jádro a výsledná vzhled připomíná korunu CANDIDATE en cs HP:0025559 rdfs:label Coronary cataract Koronární katarakta OFFICIAL en cs HP:0025560 IAO:0000115 Tiny deposits corresponding to cells floating in the anterior chamber of the eye. This appearance is typically associated with intraocular inflammation leading to breakdown of the blood-aqueous barrier and resulting in an increase in the number of cells and in the aqueous humor. Grading (SUN Working Group) is performed by estimating the number of cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. Drobná ložiska odpovídající buňkám plovoucím v přední oční komoře. Tento vzhled je obvykle spojen s nitroočním zánětem, který vede k narušení hemato-vodné bariéry a má za následek zvýšení počtu buněk a ve vodném moku. Třídění (SUN Working Group) se provádí odhadem počtu buněk v poli o rozměrech 1 × 1 mm za použití přiměřené intenzity světla a zvětšení na štěrbinové lampě. OFFICIAL en cs HP:0025560 rdfs:label Anterior chamber cells Buňky přední komory OFFICIAL @@ -18143,14 +18143,14 @@ en cs HP:0025565 IAO:0000115 Anterior chamber cells with 26-50 cells in a 1 mm b en cs HP:0025565 rdfs:label Anterior chamber cells grade 3+ Buňky přední komory třídy 3+ OFFICIAL en cs HP:0025566 IAO:0000115 Anterior chamber cells with more than 50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. Buňky přední komory s více než 50 buňkami v poli štěrbinového paprsku o rozměrech 1 × 1 mm, při použití dostatečné intenzity světla a zvětšení na štěrbinové lampě. OFFICIAL en cs HP:0025566 rdfs:label Anterior chamber cells grade 4+ Buňky přední komory třídy 4+ OFFICIAL -en cs HP:0025567 IAO:0000115 An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the centre of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months. Anomálie sítnice se serózním odchlípením neurosenzorické sítnice sekundární k jedné nebo více fokálním lézím retinálního pigmentového epitelu (RPE) a spojená s rozmazaným viděním, obvykle pouze na jednom oku a pacientem obvykle vnímána jako tmavá skvrna středu zorného pole s přidruženou mikropsií a metamorfopsií. Normální vidění se často spontánně vrátí během několika měsíců. OFFICIAL +en cs HP:0025567 IAO:0000115 An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the center of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months. Anomálie sítnice se serózním odchlípením neurosenzorické sítnice sekundární k jedné nebo více fokálním lézím retinálního pigmentového epitelu (RPE) a spojená s rozmazaným viděním, obvykle pouze na jednom oku a pacientem obvykle vnímána jako tmavá skvrna středu zorného pole s přidruženou mikropsií a metamorfopsií. Normální vidění se často spontánně vrátí během několika měsíců. CANDIDATE en cs HP:0025567 rdfs:label Central serous chorioretinopathy Centrální serózní chorioretinopatie OFFICIAL en cs HP:0025568 rdfs:label Abnormal morphology of the choroidal vasculature Abnormální morfologie choroidální vaskulatury OFFICIAL en cs HP:0025569 IAO:0000115 The presence of aneurysmal polypoidal lesions in the choroidal vasculature. The aneurysmal dilatations, also known as polyps, may be found at subfoveal, juxtafoveal, extrafoveal, peripapillary or even peripheral regions. These polypoidal dilatations may be visible as reddish-orange subretinal nodules during ophthalmoscopic examination. The polypoidal lesions are best detected on indocyanine green angiography (ICGA) and might be associated with a branching vascular network (BVN) of neovascularization. Přítomnost aneuryzmatických polypoidních lézí v choroidální vaskulatuře. Aneuryzmatické dilatace, také známé jako polypy, lze nalézt v subfoveální, juxtafoveální, extrafoveální, peripapilární nebo dokonce periferní oblasti. Tyto polypoidní dilatace mohou být viditelné jako červenooranžové subretinální noduly při oftalmoskopickém vyšetření. Polypoidní léze se nejlépe detekují na angiografii s indocyaninovou zelenou (ICGA) a mohou být spojeny s rozvětvenou vaskulární sítí (branching vascular network, BVN) neovaskularizace. OFFICIAL en cs HP:0025569 rdfs:label Polypoidal choroidal vasculopathy Polypoidní choroidální vaskulopatie OFFICIAL en cs HP:0025570 IAO:0000115 Increased tendency of choiroidal blood vessels to allow fluids to leak characterized by multifocal choroidal hyperfluorescence on indocyanine green angiography (ICGA). Zvýšená tendence choroidálních krevních cév k úniku tekutin charakterizovaná multifokální choroidální hyperfluorescencí na indocyaninové zelené angiografii (ICGA). OFFICIAL en cs HP:0025570 rdfs:label Choroidal vascular hyperpermeability Choroidální vaskulární hyperpermeabilita OFFICIAL -en cs HP:0025571 IAO:0000115 A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree. Typ šedého zákalu, který vykazuje velkolepé zobrazení mnoha barev, jež se třpytí při změně dopadajícího světla jako osvětlený vánoční stromek. OFFICIAL +en cs HP:0025571 IAO:0000115 A type of cataract that shows a spectacular display of multiple colors that glitters with the change of incident light like an illuminated Christmas tree. Typ šedého zákalu, který vykazuje velkolepé zobrazení mnoha barev, jež se třpytí při změně dopadajícího světla jako osvětlený vánoční stromek. CANDIDATE en cs HP:0025571 rdfs:label Christmas tree cataract Stromečkovitá katarakta OFFICIAL en cs HP:0025572 IAO:0000115 Punctal stenosis is a condition in which the external opening of the lacrimal canaliculus is narrowed or occluded. Punktální stenóza je stav zúžení či okluce zevního vyústění canaliculus lacrimalis v oblasti punctum lacrimale. OFFICIAL en cs HP:0025572 rdfs:label Punctal stenosis Stenóza puctum lacrimale OFFICIAL @@ -18347,7 +18347,7 @@ en cs HP:0025677 IAO:0000115 The presence of chyle (a type of lipid-rich lymph) en cs HP:0025677 rdfs:label Fetal chylothorax Fetální chylotorax CANDIDATE en cs HP:0025678 IAO:0000115 Accumulation of lymphatic fluid in the pleural space. This finding is usually observed by prenatal sonography. Once neonatal feeding is established and the lymphatic fluid contains chyle, transformation to chylothorax may be observed. Hromadění lymfatické tekutiny v pleurálním prostoru. Tento nález je obvykle pozorován při prenatální sonografií. Jakmile je zavedena novorozenecká výživa a lymfatická tekutina obsahuje tuky, lze pozorovat transformaci na chylothorax CANDIDATE en cs HP:0025678 rdfs:label Fetal hydrothorax Fetální hydrotorax CANDIDATE -en cs HP:0025679 IAO:0000115 Inflammation of an intervertebral disc or disk space. Zánět meziobratlové ploténky CANDIDATE +en cs HP:0025679 IAO:0000115 Inflammation of an intervertebral disk or disk space. Zánět meziobratlové ploténky CANDIDATE en cs HP:0025679 rdfs:label Diskitis Discitida CANDIDATE en cs HP:0025680 IAO:0000115 Compound muscle action potential amplitude (CMAP) facilitation denotes an increase in tendon reflexes, strength, or CMAP amplitude after 10 seconds of maximal voluntary contraction. Facilitace amplitudy sumačného akčního potenciálu svalu (CMAP) znamená zvýšení šlacho-svalových reflexů, síly, nebo amplitudy CMAP po deseti vteřinách maximální vědomé kontrakce. CANDIDATE en cs HP:0025680 rdfs:label Compound muscle action potential amplitude facilitation Facilitace amplitudy sumačního svalového akčního potenciálu CANDIDATE @@ -18393,11 +18393,11 @@ en cs HP:0025700 IAO:0000115 A complete or near-complete lack of amniotic fluid en cs HP:0025700 rdfs:label Anhydramnios Anhydramnion CANDIDATE en cs HP:0025701 IAO:0000115 The jugular lymphatic sacs (JLS) are a physiological and temporary part of fetal lymphatic development. They are formed from small buds of lymphatic endothelial cells arising from the internal jugular veins. By 14 weeks gestation they have developed into lymphatic nodes which drain into the systemic circulation. Visibility of JLS on ultrasound past 14 weeks of gestation implies distension and this may be associated with raised nuchal translucency. Jugulární lymfatické vaky (JLS) jsou fyziologickou a dočasnou součástí fetálního vývoje lymfatického systému. Jsou tvořeny malými pupeny lymfatických endoteliálních buněk vycházejících z vnitřních jugulárních žil. Ve 14. týdnu těhotenství se z nich vyvíjejí lymfatické uzliny, ze kterých lymfa odtéká do systémového oběhu. Viditelnost JLS na ultrazvuku po 14 týdnech těhotenství implikuje jejich zvětšení, což může být spojeno se zvýšenou nuchální translucencí CANDIDATE en cs HP:0025701 rdfs:label Distended jugular lymphatic sacs Distendované jugulární lymfatické vaky CANDIDATE -en cs HP:0025702 IAO:0000115 A type of Schizencephaly in which there is a trans-mantle column of abnormal grey matter but no evidence of a CSF-containing cleft on MR imaging. Typ schizencefalie, u kterého je příčný sloupec abnormální šedé hmoty, ale na zobrazení MR není patrný rozštěp obsahující mozkomíšní mok. CANDIDATE +en cs HP:0025702 IAO:0000115 A type of Schizencephaly in which there is a trans-mantle column of abnormal gray matter but no evidence of a CSF-containing cleft on MR imaging. Typ schizencefalie, u kterého je příčný sloupec abnormální šedé hmoty, ale na zobrazení MR není patrný rozštěp obsahující mozkomíšní mok. CANDIDATE en cs HP:0025702 rdfs:label Type 1 schizencephaly Schizencefalie typ I CANDIDATE -en cs HP:0025703 IAO:0000115 A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal grey matter that are opposed to each other. Typ schizencefalie, při níž je přítomna rozštěpová štěrbina obsahující mozkomíšní mok s přiléhajícími lemujícími okraji abnormální šedé hmoty, které jsou proti sobě. CANDIDATE +en cs HP:0025703 IAO:0000115 A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal gray matter that are opposed to each other. Typ schizencefalie, při níž je přítomna rozštěpová štěrbina obsahující mozkomíšní mok s přiléhajícími lemujícími okraji abnormální šedé hmoty, které jsou proti sobě. CANDIDATE en cs HP:0025703 rdfs:label Type 2 schizencephaly Schizencefalie typ II CANDIDATE -en cs HP:0025704 IAO:0000115 A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal grey matter. Typ schizencefalie, při níž je přítomna rozštěpová štěrbina obsahující mozkomíšní mok s nepřiléhajícími výstelkovými lištami abnormální šedé hmoty. CANDIDATE +en cs HP:0025704 IAO:0000115 A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal gray matter. Typ schizencefalie, při níž je přítomna rozštěpová štěrbina obsahující mozkomíšní mok s nepřiléhajícími výstelkovými lištami abnormální šedé hmoty. CANDIDATE en cs HP:0025704 rdfs:label Type 3 schizencephaly Schizencefalie typ III CANDIDATE en cs HP:0025705 IAO:0000115 Abnormal appearance or non-visualization (apparent absence) of the nasal bone of a fetus in first trimester sonographic screening. Assessment of the fetal nasal bone is generally performed at 11-14 weeks gestational age. Abnormální vzhled nebo nezobrazení (zdánlivá absence) nosní kosti plodu při sonografickém screeningu v prvním trimestru. Vyšetření nosní kosti plodu se obecně provádí v 11.-14. týdnu gestačního věku CANDIDATE en cs HP:0025705 rdfs:label Abnormal fetal nasal bone visualization Abnormální vizualizace nosní kůstky plodu CANDIDATE @@ -18970,7 +18970,7 @@ en cs HP:0030270 rdfs:label Elevated red cell adenosine deaminase activity Zvý en cs HP:0030271 IAO:0000115 This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes. 2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation. Tento termín označuje nepřiměřeně nízkou koncentraci 2,3-DPG v erytrocytech. 2,3-difosfoglycerát (2,3-DPG) řídí pohyb kyslíku z červených krvinek do tkání. Anémie je obvykle doprovázena zvýšenou hladinou 2,3-DPG, aby se podpořilo okysličení tkáni. OFFICIAL en cs HP:0030271 rdfs:label Reduced erythrocyte 2,3-diphosphoglycerate concentration Snížená koncentrace 2,3-difosfoglycerátu v erytrocytech OFFICIAL en cs HP:0030272 IAO:0000115 An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme. Změněná schopnost jakéhokoli enzymu působit jako katalyzátor v erytrocytech. Tento termín zahrnuje změny způsobené změněnou hladinou enzymu. CANDIDATE -en cs HP:0030272 rdfs:label Abnormal erythrocyte enzyme level Abnormální hladina erytrocytárních enzymů OFFICIAL +en cs HP:0030272 rdfs:label Abnormal erythrocyte enzyme concentration or activity Abnormální hladina erytrocytárních enzymů CANDIDATE en cs HP:0030273 IAO:0000115 Decrease in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine. Snížení aktivity adenosindeaminázy (ADA), enzymu zapojeného v purinovém metabolismu, v erytrocytech. ADA katabolizuje adenosin. CANDIDATE en cs HP:0030273 rdfs:label Reduced red cell adenosine deaminase level Snížená aktivita adenosindeaminázy v erytrocytech CANDIDATE en cs HP:0030274 IAO:0000115 Additional scrotum, or part of a scrotum in an abnormal location. Další šourek nebo část šourku na neobvyklém místě. OFFICIAL @@ -19013,7 +19013,7 @@ en cs HP:0030296 rdfs:label Metaphyseal chondromatosis of radius Metafyzální c en cs HP:0030297 rdfs:label Metaphyseal chondromatosis of ulna Metafyzální chondromatóza ulny OFFICIAL en cs HP:0030298 rdfs:label Metaphyseal chondromatosis of humerus Metafyzální chondromatóza humeru OFFICIAL en cs HP:0030299 IAO:0000115 An anomaly of the metaphysis of the distal femur (close to the knee). Anomálie metafýzy distálního femuru (části blízko u kolena) OFFICIAL -en cs HP:0030299 rdfs:label Distal femoral metaphyseal abnormality Abnormalita distální femorální metafýzy OFFICIAL +en cs HP:0030299 rdfs:label Abnormal distal femoral metaphysis morphology Abnormalita distální femorální metafýzy CANDIDATE en cs HP:0030300 IAO:0000115 Presence of only 10 (instead of the usual 12) pairs of ribs. Přítomnost jenom 10 (namísto obvyklých 12) párů žeber OFFICIAL en cs HP:0030300 rdfs:label 10 pairs of ribs 10 párů žeber OFFICIAL en cs HP:0030301 IAO:0000115 An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts. Anomálie přední komisury, svazku nervových vláken, které spojují dvě mozkové hemisféry přes střední čáru. Přední komisura hraje roli při vnímání bolesti a obsahuje dekusační vlákna z čichových cest. OFFICIAL @@ -19047,7 +19047,7 @@ en cs HP:0030318 IAO:0000115 A type of inflammation of the lips involving one or en cs HP:0030318 rdfs:label Angular cheilitis Angulární cheilitida OFFICIAL en cs HP:0030319 IAO:0000115 Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve). Snížená síla jednoho nebo více svalů inervovaných nervus facialis (sedmý hlavový nerv). OFFICIAL en cs HP:0030319 rdfs:label Weakness of facial musculature Slabost obličejového svalstva OFFICIAL -en cs HP:0030320 IAO:0000115 An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space. Zvětšení vertikální vzdálenosti mezi přilehlými obratlovými těly, pozorované jako zvětšení vzdálenosti meziobratlových plotének OFFICIAL +en cs HP:0030320 IAO:0000115 An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disk space. Zvětšení vertikální vzdálenosti mezi přilehlými obratlovými těly, pozorované jako zvětšení vzdálenosti meziobratlových plotének CANDIDATE en cs HP:0030320 rdfs:label Increased intervertebral space Zvětšený meziobratlový prostor OFFICIAL en cs HP:0030321 IAO:0000115 An anomaly of the vertebral artery, the major artery of the neck that originates from the subclavian artery and merges to form the single midline basilar artery in a complex called the vertebrobasilar system. Anomálie vertebrální arterie, hlavní arterie krku, která vystupuje z podkličkové artárie a v dalším průběhu se obě párové vertebrální arterie slučují ve střední čáře do bazilární arterie v komplexu nazvaném vertebrobazilární systém OFFICIAL en cs HP:0030321 rdfs:label Abnormal vertebral artery morphology Abnormální morfologie vertebrální arterie OFFICIAL @@ -19107,8 +19107,8 @@ en cs HP:0030352 IAO:0000115 An anomalous level of insulin-like growth factor 1 en cs HP:0030352 rdfs:label Abnormal serum insulin-like growth factor 1 level Abnormální hladina sérového inzulínu podobného růstového faktoru 1 OFFICIAL en cs HP:0030353 IAO:0000115 A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation. Snížená hladina IGF-1 (inzulínu podobný růstový faktor 1) v krevním oběhu OFFICIAL en cs HP:0030353 rdfs:label Decreased serum insulin-like growth factor 1 Snížení sérového inzulínu podobného růstového faktoru 1 OFFICIAL -en cs HP:0030354 IAO:0000115 Abnormal levels of interferon in the blood. Abnormální hladiny interferonu v krvi OFFICIAL -en cs HP:0030354 rdfs:label Abnormal circulating interferon concentration Abnormální koncentrace cirkulujícího interferonu CANDIDATE +en cs HP:0030354 IAO:0000115 Abnormal levels of interferon in the blood Abnormální hladiny interferonu v krvi OFFICIAL +en cs HP:0030354 rdfs:label obsolete Abnormal circulating interferon concentration Abnormální koncentrace cirkulujícího interferonu CANDIDATE en cs HP:0030355 IAO:0000115 Abnormal levels of interferon gamma measured in the blood circulation. Abnormální hladiny interferonu gamma měřené v krevním oběhu OFFICIAL en cs HP:0030355 rdfs:label Abnormal circulating interferon-gamma concentration Abnormální koncentrace cirkulujícího interferonu gamma CANDIDATE en cs HP:0030356 IAO:0000115 An elevation in the concentration of interferon gamma measured in the blood circulation. Zvýšení koncentrace interferonu gama měřeného v krevním oběhu OFFICIAL @@ -19345,7 +19345,7 @@ en cs HP:0030495 IAO:0000115 Any structural anomaly of the blood vessels of the en cs HP:0030495 rdfs:label Abnormality morphology of the macular vasculature Abnormální morfologie makulární vaskulatury OFFICIAL en cs HP:0030496 IAO:0000115 Yellow-white intraretinal deposits in the macula typically associated with damaged outer blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature. Žlutobílá intraretinální depozita v makule typicky spojená s poškozenou vnější hematoretinální bariérou a exsudací serózní tekutiny a lipidů z retinální mikrovaskulatury. OFFICIAL en cs HP:0030496 rdfs:label Macular exudate Makulární exsudát OFFICIAL -en cs HP:0030497 IAO:0000115 Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. Načechraná bílá skvrna na makule, která představuje lokalizované denzní oblasti bělavého otoku nervových vláken sítnice. Často mají klikatou strukturu, nerovný okraj, ale jinak jsou dobře ohraničené a velikost přibližně 1 mm; mírně vystupují do sklivce a někdy vychylují cévy sítnice. OFFICIAL +en cs HP:0030497 IAO:0000115 Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fiber layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. Načechraná bílá skvrna na makule, která představuje lokalizované denzní oblasti bělavého otoku nervových vláken sítnice. Často mají klikatou strukturu, nerovný okraj, ale jinak jsou dobře ohraničené a velikost přibližně 1 mm; mírně vystupují do sklivce a někdy vychylují cévy sítnice. CANDIDATE en cs HP:0030497 rdfs:label Macular cotton wool spot Vatovitá skvrna na makule OFFICIAL en cs HP:0030498 IAO:0000115 Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging. Abnormální zvětšení tloušťky sítnice v makulární oblasti pozorované při fundoskopii nebo při zobrazení očního pozadí. OFFICIAL en cs HP:0030498 rdfs:label Macular thickening Ztluštění makuly OFFICIAL @@ -19503,7 +19503,7 @@ en cs HP:0030634 rdfs:label Perifoveal ring of hyperautofluorescence surrounded en cs HP:0030635 rdfs:label Retinal dystrophy with early macular involvement Retinální dystrofie s postižením maculy OFFICIAL en cs HP:0030636 IAO:0000115 Occult macular dystrophy is a, typically hereditary, abnormality of the macula associated with progressive foveal cone dysfunction and no apparent fundoscopic, full-field electroretinogram (ERG), or fluorescein angiogram abnormalities. Okultní makulární dystrofie je typicky dědičná abnormalita makuly spojená s progresivní dysfunkcí čípků fovey a bez zjevných abnormalit fundoskopického elektroretinogramu celého zorního pole (ERG) nebo fluoresceinového angiogramu. OFFICIAL en cs HP:0030636 rdfs:label Occult macular dystrophy Okultní makulární dystrofie OFFICIAL -en cs HP:0030637 IAO:0000115 Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia. Fenotyp sítnice charakterizovaný dysfunkcí fotoreceptorů čípků a zachovaným systémem tyčinek. Abnormalita je typicky stacionární nebo velmi pomalu progredující a nálezy mohou zahrnovat oslabené centrální vidění, abnormality barevného vidění, nystagmus a fotofobii. OFFICIAL +en cs HP:0030637 IAO:0000115 Retinal phenotype characterized by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, color vision abnormalities, nystagmus and photophobia. Fenotyp sítnice charakterizovaný dysfunkcí fotoreceptorů čípků a zachovaným systémem tyčinek. Abnormalita je typicky stacionární nebo velmi pomalu progredující a nálezy mohou zahrnovat oslabené centrální vidění, abnormality barevného vidění, nystagmus a fotofobii. CANDIDATE en cs HP:0030637 rdfs:label Congenital stationary cone dysfunction Vrozená stacionární dysfunkce čípků OFFICIAL en cs HP:0030638 rdfs:label Congenital stationary night blindness with normal fundus Vrozená stacionární noční slepota s normálním fundem OFFICIAL en cs HP:0030639 rdfs:label Congenital stationary night blindness with abnormal fundus Vrozená stacionární noční slepota s abnormálním fundem OFFICIAL @@ -19542,7 +19542,7 @@ en cs HP:0030662 IAO:0000115 The presence of inflammatory cells such as lymphocy en cs HP:0030662 rdfs:label Vitreous inflammatory cells Zánětlivé buňky v sklivci OFFICIAL en cs HP:0030663 IAO:0000115 Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernable gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity. Zbytkový sklivcový gel zabírající bezprostřední retrolentální prostor a minimální až žádný rozeznatelný gel v centrální sklivcové dutině, což vytváří vzhled prázdné sklivcové dutiny. OFFICIAL en cs HP:0030663 rdfs:label Optically empty vitreous Opticky prázdný sklivec OFFICIAL -en cs HP:0030664 IAO:0000115 Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus. Slabost dolní části přímého břišního svalu, která se klinicky zjišťuje takto. Když se pacient posadí nebo zvedne hlavu z polohy vleže, pupek se posune směrem k hlavě. Je to důsledek ochrnutí dolní části přímého břišního svalu, takže převažují horní vlákna, která táhnou pupek vzhůru. OFFICIAL +en cs HP:0030664 IAO:0000115 Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibers predominate pulling upwards the umbilicus. Slabost dolní části přímého břišního svalu, která se klinicky zjišťuje takto. Když se pacient posadí nebo zvedne hlavu z polohy vleže, pupek se posune směrem k hlavě. Je to důsledek ochrnutí dolní části přímého břišního svalu, takže převažují horní vlákna, která táhnou pupek vzhůru. CANDIDATE en cs HP:0030664 rdfs:label Beevor's sign Beevorovo znamení OFFICIAL en cs HP:0030665 IAO:0000115 Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements. Rubrální třes je charakterizován pomalým hrubým třesem v klidu, který se zhoršuje posturálními úpravami a řízenými dobrovolnými pohyby OFFICIAL en cs HP:0030665 rdfs:label Rubral tremor Rubrální třes OFFICIAL @@ -19572,7 +19572,7 @@ en cs HP:0030677 IAO:0000115 A congenital auricular deformity, which is mainly c en cs HP:0030677 rdfs:label Mozart ear Mozartovo ucho OFFICIAL en cs HP:0030679 IAO:0000115 A hypopigmented spot in the shape of a leaf from the mountain ash tree. Hypopigmentované skvrny tvaru jasanového listu. OFFICIAL en cs HP:0030679 rdfs:label Ash-leaf spot Ash-leaf spot OFFICIAL -en cs HP:0030680 IAO:0000115 Any structural anomaly of the heart and great vessels. Jakákoli strukturální anomálie srdce a velkých cév. OFFICIAL +en cs HP:0030680 IAO:0000115 Any structural anomaly of the heart and blood vessels. Jakákoli strukturální anomálie srdce a velkých cév. CANDIDATE en cs HP:0030680 rdfs:label Abnormal cardiovascular system morphology Abnormalita morfologie kardiovaskulární soustavy CANDIDATE en cs HP:0030681 IAO:0000115 Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae). Jakákoli strukturální anomálie svalových sloupců, které vyčnívají z vnitřního povrchu pravé a levé komory srdce (kardiální trabekuly, trabeculae carneae) OFFICIAL en cs HP:0030681 rdfs:label Abnormal morphology of myocardial trabeculae Abnormální morfologie myokardiálních trabekul OFFICIAL @@ -19619,7 +19619,7 @@ en cs HP:0030713 IAO:0000115 Vein of Galen aneurysmal malformation is a choroida en cs HP:0030713 rdfs:label Vein of Galen aneurysmal malformation Aneurysma Gslénovy žíly OFFICIAL en cs HP:0030714 IAO:0000115 A large maternal clot that separates the chorionic plate from the villous chorion. Velká mateřská sraženina, která odděluje choriovou ploténku od vilózního choria. OFFICIAL en cs HP:0030714 rdfs:label Subchorionic thrombohematoma Subchoriální trombus hematom OFFICIAL -en cs HP:0030715 IAO:0000115 A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis. Vývojová anomálie charakterizovaná fokální obliterací proximálního segmentu bronchu. Průdušky jsou distálně od místa stenózy zcela normální. OFFICIAL +en cs HP:0030715 IAO:0000115 A developmental anomaly characterized by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis. Vývojová anomálie charakterizovaná fokální obliterací proximálního segmentu bronchu. Průdušky jsou distálně od místa stenózy zcela normální. CANDIDATE en cs HP:0030715 rdfs:label Bronchial atresia Bronchiální atrézie OFFICIAL en cs HP:0030716 IAO:0000115 Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly. Částečné nebo úplné chyběné lebečních kostí. Tento stav je často, i když ne vždy, asociovaný s anencefalií. OFFICIAL en cs HP:0030716 rdfs:label Acrania Akranie OFFICIAL @@ -19747,8 +19747,8 @@ en cs HP:0030780 IAO:0000115 An anomaly of the protein C anticoagulant pathway, en cs HP:0030780 rdfs:label Abnormality of the protein C anticoagulant pathway Abnormita antikoagulační kaskády proteinu C OFFICIAL en cs HP:0030781 IAO:0000115 A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues. Vyšší než normální hladiny mastných kyselin, které se mohou vyskytnout v plazmě v důsledku lipolýzy v tukové tkáni nebo při příjmu plazmatických triacyglycerolů do tkání OFFICIAL en cs HP:0030781 rdfs:label Increased circulating free fatty acid level Zvýšená hladina cirkulujících volných mastných kyselin OFFICIAL -en cs HP:0030782 IAO:0000115 An abnormal amount of any of the interleukins, a class of cytokines, in the circulation. Abnormální množství některého z interleukinů, skupiny cytokinů, v oběhu OFFICIAL -en cs HP:0030782 rdfs:label Abnormal circulating interleukin concentration Abnormální sérová hladina interleukinu CANDIDATE +en cs HP:0030782 IAO:0000115 An abnormal amount of any of the interleukins, a class of cytokines, in the circulation Abnormální množství některého z interleukinů, skupiny cytokinů, v oběhu OFFICIAL +en cs HP:0030782 rdfs:label obsolete Abnormal circulating interleukin concentration Abnormální sérová hladina interleukinu CANDIDATE en cs HP:0030783 IAO:0000115 The concentration of interleukin-6 in the blood circulation is above the upper limit of normal. Zvýšená koncentrace interleukinu 6 v krevním oběhu CANDIDATE en cs HP:0030783 rdfs:label Increased circulating interleukin 6 concentration Zvýšení sérového interleukinu 6 CANDIDATE en cs HP:0030784 IAO:0000115 An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name. Neschopnost pojmenovat správně vnímané osoby a předměty. Jedinec je schopen popsat daný objekt, ale nedokáže uvést jeho jméno. OFFICIAL @@ -20330,8 +20330,8 @@ en cs HP:0031098 IAO:0000115 Reduced amount of the thyroid-stimulating hormone ( en cs HP:0031098 rdfs:label Decreased thyroid-stimulating hormone level Snížená hladina hormonu stimulujícího štítnou žlázu OFFICIAL en cs HP:0031099 IAO:0000115 Any deviation from the normal concentration of inhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone. Jakákoli odchylka od normální koncentrace iInhibinů, což jsou heterodimerní proteinové hormony vylučované granulózními buňkami vaječníků u žen a Sertoliho buňkami varlat u mužů. Inhibiny potlačují sekreci hormonu stimulujícího folikuly hypofýzy. OFFICIAL en cs HP:0031099 rdfs:label Abnormal circulating inhibin level Abnormální hladina cirkulujícího inhibinu OFFICIAL -en cs HP:0031100 IAO:0000115 A reduced concentration of inhibin B in the blood. Snížená koncentrace inhibinu B v krvi OFFICIAL -en cs HP:0031100 rdfs:label Decreased inhibin B level Snížená hladina inhibinu B OFFICIAL +en cs HP:0031100 IAO:0000115 The concentration of inhibin B in the blood circulation is below the lower limit of normal. Snížená koncentrace inhibinu B v krvi CANDIDATE +en cs HP:0031100 rdfs:label Decreased circulating inhibin B concentration Snížená hladina inhibinu B CANDIDATE en cs HP:0031101 IAO:0000115 Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases. Jakákoli odchylka od normálního rozmezí antimülleriánského hormonu, peptidu produkovaného buňkami granulózy folikulů. Antimülleriánský hormon (AMH), známý také jako Mülleriánská inhibiční látka, je produkován granulózovými buňkami malých antrálních folikulů vaječníku. AMH má ve vaječníku inhibiční úlohu a přispívá k inhibici folikulů. Hladiny AMH jsou u žen do 8 let věku nízké, do puberty rychle stoupají a od 25 let věku postupně klesají až do menopauzy, kdy produkce AMH ustává. OFFICIAL en cs HP:0031101 rdfs:label Abnormal circulating antimullerian hormone concentration Abnormální koncentrace cirkulujícího Antimülleriánského hormonu OFFICIAL en cs HP:0031102 IAO:0000115 An elevation above the normal range of the antimullerian hormone in the circulation. Zvýšení hladiny antimülleriánského hormonu v oběhu nad normální rozmezí. OFFICIAL @@ -20397,7 +20397,7 @@ en cs HP:0031136 rdfs:label Decreased acrosin in sperm head Snížení počtu ak en cs HP:0031137 IAO:0000115 Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material. Hepatocyty (jaterní parenchymové buňky) mají nafouklý vzhled v důsledku expanze cytoplazmy nahromaděným materiálem. OFFICIAL en cs HP:0031137 rdfs:label Storage in hepatocytes Ukládání v hepatocytech OFFICIAL en cs HP:0031138 IAO:0000115 A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP). Odchylka od normální cirkulující koncentrace natriuretického peptidu typu B (BNP) OFFICIAL -en cs HP:0031138 rdfs:label Abnormal B-type natriuretic peptide concentration Abnormální hladina natriuretického peptidu typu B CANDIDATE +en cs HP:0031138 rdfs:label Abnormal circulating B-type natriuretic peptide concentration Abnormální hladina natriuretického peptidu typu B CANDIDATE en cs HP:0031139 IAO:0000115 A type of rest posture in an infant that indicated a generalized reduction in muscle tone. The hips are flexed and the legs are abducted to an extent that causes the lateral thigh to rest upon the supporting surface. This posture is said to resemble the legs of a frog. Typ klidové polohy u kojence, který naznačuje generalizované snížení svalového tonu. Kyčle jsou ohnuté a nohy jsou abdukovány do té míry, že se boky stehen se opírají o podložku. Tato poloha připomíná nohy žáby. OFFICIAL en cs HP:0031139 rdfs:label Frog-leg posture Žabí poloha OFFICIAL en cs HP:0031140 IAO:0000115 An abnormal appearance of the liver or any of its components on sonography (ultrasound). Abnormální vzhled jater nebo některé z jejich složek při sonografickém vyšetření (ultrazvuk) OFFICIAL @@ -20512,7 +20512,7 @@ en cs HP:0031201 IAO:0000115 A type of acelluar casts that have a surface compos en cs HP:0031201 rdfs:label Granular casts Granulované válce v močovém sedimentu OFFICIAL en cs HP:0031202 IAO:0000115 A type of acellular urinary casts that display a melted wax (waxy) appearance, which gives them a high refractive index. They are frequently dark, with blunt extremities, indented and cracked edges and a large size, which is often several times that of other types of casts. Typ bezbuněčných močových válců, které díky vysokému indexu lomu mají vzhled roztaveného vosku (voskový vzhled). Často jsou tmavé se zaoblenými konci, s nerovnými hranami s prasklinami a jsou vetší velikostí, často i několikanásobně větší než jiné typy válců OFFICIAL en cs HP:0031202 rdfs:label Waxy casts Voskové válce v močovém sedimentu OFFICIAL -en cs HP:0031203 IAO:0000115 A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses. Typ bezbuněčných močových válců, které obsahují tukové kapky, tuková tělíska nebo krystaly cholesterolu a jsou často asociovány s volnými formami těchto elementů. Jejich identifikace může vyžadovat použití polarizační světelné mikroskopie, v níž se tukové elementy uložené v matrix válce zobrazují jako maltézské kříže OFFICIAL +en cs HP:0031203 IAO:0000115 A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarized light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses. Typ bezbuněčných močových válců, které obsahují tukové kapky, tuková tělíska nebo krystaly cholesterolu a jsou často asociovány s volnými formami těchto elementů. Jejich identifikace může vyžadovat použití polarizační světelné mikroskopie, v níž se tukové elementy uložené v matrix válce zobrazují jako maltézské kříže CANDIDATE en cs HP:0031203 rdfs:label Fatty casts Tukové válce v močovém sedimentu OFFICIAL en cs HP:0031204 IAO:0000115 A type of urinary cast that contain bacteria. Bacterial casts can be difficult to identify and can be distinguished from other types of casts using phase contrast microscopy. Bacterial casts are diagnostic of acute pyelonephritis or intrinsic renal infection. Typ močových válců obsahující bakterie. Bakteriální válce může být obtížné identifikovat a odlišit od jiných typů valců pomocí mikroskopie s fázovým kontrastem. Bakteriální válce jsou diagnostické pro akutní pyelonefritidu nebo intersticiální nefritidu OFFICIAL en cs HP:0031204 rdfs:label Bacterial cell casts Bakteriální válce v močovém sedimentu OFFICIAL @@ -21289,7 +21289,7 @@ en cs HP:0031604 IAO:0000115 A developmental defect characterized by the lack of en cs HP:0031604 rdfs:label Agenesis of the carotid canal Ageneze karotického kanálu OFFICIAL en cs HP:0031605 IAO:0000115 Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve. Jakákoli anomálie pigmentace očního pozadí, zadní části oka včetně sítnice a zrakového nervu. OFFICIAL en cs HP:0031605 rdfs:label Abnormality of fundus pigmentation Abnormalita pigmentace fundu OFFICIAL -en cs HP:0031606 IAO:0000115 Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. Načechraná bílá skvrna na makule, která představuje lokalizované denzní oblasti bělavého otoku nervových vláken sítnice. Často mají klikatou strukturu, nerovný okraj, ale jinak jsou dobře ohraničené a velikost přibližně 1 mm; mírně vystupují do sklivce a někdy vychylují cévy sítnice. OFFICIAL +en cs HP:0031606 IAO:0000115 Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fiber layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. Načechraná bílá skvrna na makule, která představuje lokalizované denzní oblasti bělavého otoku nervových vláken sítnice. Často mají klikatou strukturu, nerovný okraj, ale jinak jsou dobře ohraničené a velikost přibližně 1 mm; mírně vystupují do sklivce a někdy vychylují cévy sítnice. CANDIDATE en cs HP:0031606 rdfs:label Retinal cotton wool spot Vatovitá skvrna na sítnici OFFICIAL en cs HP:0031607 IAO:0000115 Weakness in the supporting structures of the pelvic floor allowing the pelvic viscera to descend or one or more of the pelvic organs drop from their normal position. Slabost podpůrných struktur pánevního dna, která umožňuje pokles pánevních vnitřností nebo pokles jednoho či více pánevních orgánů z jejich normální polohy. OFFICIAL en cs HP:0031607 rdfs:label Pelvic organ prolapse Prolaps pánevních orgánů OFFICIAL @@ -21408,7 +21408,7 @@ en cs HP:0031669 IAO:0000115 A murmur that occurs in the middle of the diastolic en cs HP:0031669 rdfs:label Middiastolic murmur Středně diastolický šelest OFFICIAL en cs HP:0031670 IAO:0000115 A murmur that occurs in both systole and diastole. Šelest slyšitelný behem systoly i diastoly OFFICIAL en cs HP:0031670 rdfs:label Continuous heart murmur Kontinuální srdeční šelest OFFICIAL -en cs HP:0031671 IAO:0000115 Typical atrial flutter is an organised atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative. Typický flutter síní je organizovaná síňová tachykardie. Může být také definován jako reentry tachykardie omezená na pravou síň. Tato arytmie má délku cyklu 200-260 ms, ačkoliv délka může kolísat v závislosti na předchozí léčbě nebo ablaci, vrozené srdeční vadě atd. Komorová frekvenční odpověď bude omezena vedením atrioventrikulárního uzlu, obvykle představuje odpověď 2:1 nebo 3:1, během flutteru síní. Typický (proti směru hodinových ručiček) flutter je spojen s běžným vzorem flutteru: pravidelným kontinuálním vlněním s dominantními negativními výchylkami v dolních svodech II, III a aVF, často popisovaným také jako vzor zubů pily a plochými výchylkami síní ve svodech I a aVL. Síňové výchylky ve V1 mohou být pozitivní, bifázické nebo negativní. OFFICIAL +en cs HP:0031671 IAO:0000115 Typical atrial flutter is an organized atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative. Typický flutter síní je organizovaná síňová tachykardie. Může být také definován jako reentry tachykardie omezená na pravou síň. Tato arytmie má délku cyklu 200-260 ms, ačkoliv délka může kolísat v závislosti na předchozí léčbě nebo ablaci, vrozené srdeční vadě atd. Komorová frekvenční odpověď bude omezena vedením atrioventrikulárního uzlu, obvykle představuje odpověď 2:1 nebo 3:1, během flutteru síní. Typický (proti směru hodinových ručiček) flutter je spojen s běžným vzorem flutteru: pravidelným kontinuálním vlněním s dominantními negativními výchylkami v dolních svodech II, III a aVF, často popisovaným také jako vzor zubů pily a plochými výchylkami síní ve svodech I a aVL. Síňové výchylky ve V1 mohou být pozitivní, bifázické nebo negativní. CANDIDATE en cs HP:0031671 rdfs:label Typical atrial flutter Typický flutter síní OFFICIAL en cs HP:0031672 IAO:0000115 A type of atrial flutter associated with rounded or bimodal positive deflections in inferior leads II, III and aVF, and a very characteristic bimodal negative wave in the shape of a W is seen in lead V1. Typ síňového flutteru spojený se zaoblenými nebo bimodálními pozitivními výchylkami ve spodních svodech II, III a aVF a velmi charakteristická bimodální negativní vlna ve tvaru W je vidět ve svodu V1. OFFICIAL en cs HP:0031672 rdfs:label Reverse typical atrial flutter Reverzní typický flutter síní OFFICIAL @@ -21666,7 +21666,7 @@ en cs HP:0031801 rdfs:label Vocal cord dysfunction Dysfunkce hlasových vazů OF en cs HP:0031803 IAO:0000115 Bleeding within the fundus of the eye. Krvácení v očním pozadí. OFFICIAL en cs HP:0031803 rdfs:label Fundus hemorrhage Hemoragie fundu OFFICIAL en cs HP:0031804 rdfs:label Premacular hemorrhage Premakulární krvácení OFFICIAL -en cs HP:0031805 IAO:0000115 A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal haemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina. "Podtyp krvácení do fundu vyskytující se v neurosenzorické sítnici. Intraretinální hemoragie mohou mít tvar ""tečky"" nebo ""skvrny"" nebo plamene v závislosti na jejich hloubce v sítnici." OFFICIAL +en cs HP:0031805 IAO:0000115 A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal hemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina. "Podtyp krvácení do fundu vyskytující se v neurosenzorické sítnici. Intraretinální hemoragie mohou mít tvar ""tečky"" nebo ""skvrny"" nebo plamene v závislosti na jejich hloubce v sítnici." CANDIDATE en cs HP:0031805 rdfs:label Intraretinal hemorrhage Intraretinální hemoragie OFFICIAL en cs HP:0031806 IAO:0000115 Any deviation from the normal number of basophils per volume in the blood circulation. Jakákoli odchylka od normálního počtu bazofilů na objem v krevním oběhu OFFICIAL en cs HP:0031806 rdfs:label Abnormal basophil count Abnormální počet bazofilů OFFICIAL @@ -21893,7 +21893,7 @@ en cs HP:0031929 IAO:0000115 A type of rosette in which a spoke-wheel arrangemen en cs HP:0031929 rdfs:label Perivascular pseudorosette Perivaskulární pseudorozeta OFFICIAL en cs HP:0031930 IAO:0000115 A type of rosette that is similar to the Homer Wright rosette, but the central fiber-rich neuropil island is larger and more irregular. Typ rozety podobný Homer Wrightově rozetě, ale s větším a více nepravidelným centrálním vláknitým ostrůvkem neuropilu OFFICIAL en cs HP:0031930 rdfs:label Neurocytic rosette Neurocytární rozeta OFFICIAL -en cs HP:0031931 IAO:0000115 Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behaviour and its occurrence may be favoured by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation. Oční flutter (třepotání) je abnormální oční pohyb sestávající z opakovaných, nepravidelných, mimovolních sérií horizontálních sakád bez intersakadického intervalu. Obvykle se překrývá s normálním okulomotorickým chováním a jeho výskyt mohou podpořit různé události, jako je mrknutí, spuštění normálních sakád nebo optokinetická stimulace. OFFICIAL +en cs HP:0031931 IAO:0000115 Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behavior and its occurrence may be favored by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation. Oční flutter (třepotání) je abnormální oční pohyb sestávající z opakovaných, nepravidelných, mimovolních sérií horizontálních sakád bez intersakadického intervalu. Obvykle se překrývá s normálním okulomotorickým chováním a jeho výskyt mohou podpořit různé události, jako je mrknutí, spuštění normálních sakád nebo optokinetická stimulace. CANDIDATE en cs HP:0031931 rdfs:label Ocular flutter Chvění očí OFFICIAL en cs HP:0031932 IAO:0000115 Aorto-left ventricular tunnel (ALVT) is a congenital extracardiac channel connecting the ascending aorta above the sino-tubular junction to either left or right ventricular cavity. Aortolevokomorový tunel (ALVT) je vrozený extrakardiální kanál spojující vzestupnou aortu nad sinotubulární junkcí s dutinou levé komory CANDIDATE en cs HP:0031932 rdfs:label Aorto-left ventricular tunnel Aortolevokomorový tunel OFFICIAL @@ -21970,17 +21970,17 @@ en cs HP:0031971 IAO:0000115 A localized hypertrophy of the subaortic segment of en cs HP:0031971 rdfs:label Subaortic ventricular septal bulge Výduť subaortálního komorového septa OFFICIAL en cs HP:0031972 IAO:0000115 Presyncope is a state of lightheadedness, muscular weakness, blurred vision, and feeling faint. Presyncope is most often cardiovascular in cause. Presynkopa je stav točení hlavy, svalové slabosti, rozmazaného vidění a pocitu na omdlení. Presynkopa je nejčastěji kardiovaskulární příčiny OFFICIAL en cs HP:0031972 rdfs:label Presyncope Presynkopa OFFICIAL -en cs HP:0031973 IAO:0000115 An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc. Abnormální zvýšení poměru výšky pohárku hlavy zrakového nervu k výšce disku. OFFICIAL +en cs HP:0031973 IAO:0000115 An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disk. Abnormální zvýšení poměru výšky pohárku hlavy zrakového nervu k výšce disku. CANDIDATE en cs HP:0031973 rdfs:label Increased vertical cup-to-disc ratio Zvýšený vertikální poměr pohárku k disku OFFICIAL -en cs HP:0031974 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.6 (The normal cup-to-disc ratio is 0.3). Poměr výšky pohárku hlavičky zrakového nervu k výšce disku je 0,6 (normální poměr pohárku a disku je 0,3). OFFICIAL +en cs HP:0031974 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.6 (The normal cup-to-disc ratio is 0.3). Poměr výšky pohárku hlavičky zrakového nervu k výšce disku je 0,6 (normální poměr pohárku a disku je 0,3). CANDIDATE en cs HP:0031974 rdfs:label Increased vertical cup-to-disc ratio - 0.6 Zvýšený vertikální poměr pohárku k disku - 0,6 OFFICIAL -en cs HP:0031975 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.7 (The normal cup-to-disc ratio is 0.3). Poměr výšky pohárku hlavičky zrakového nervu k výšce disku je 0,7 (normální poměr pohárku a disku je 0,3). OFFICIAL +en cs HP:0031975 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.7 (The normal cup-to-disc ratio is 0.3). Poměr výšky pohárku hlavičky zrakového nervu k výšce disku je 0,7 (normální poměr pohárku a disku je 0,3). CANDIDATE en cs HP:0031975 rdfs:label Increased vertical cup-to-disc ratio - 0.7 Zvýšený vertikální poměr pohárku k disku - 0,7 OFFICIAL -en cs HP:0031976 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3). Poměr výšky pohárku hlavičky zrakového nervu k výšce disku je 0,8 (normální poměr pohárku a disku je 0,3). OFFICIAL +en cs HP:0031976 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.8 (The normal cup-to-disc ratio is 0.3). Poměr výšky pohárku hlavičky zrakového nervu k výšce disku je 0,8 (normální poměr pohárku a disku je 0,3). CANDIDATE en cs HP:0031976 rdfs:label Increased vertical cup-to-disc ratio - 0.8 Zvýšený vertikální poměr pohárku k disku - 0,8 OFFICIAL -en cs HP:0031977 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.9 (The normal cup-to-disc ratio is 0.3). Poměr výšky pohárku hlavičky zrakového nervu k výšce disku je 0,9 (normální poměr pohárku a disku je 0,3). OFFICIAL +en cs HP:0031977 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.9 (The normal cup-to-disc ratio is 0.3). Poměr výšky pohárku hlavičky zrakového nervu k výšce disku je 0,9 (normální poměr pohárku a disku je 0,3). CANDIDATE en cs HP:0031977 rdfs:label Increased vertical cup-to-disc ratio - 0.9 Zvýšený vertikální poměr pohárku k disku - 0,9 OFFICIAL -en cs HP:0031978 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 1.0 (The normal cup-to-disc ratio is 0.3). Poměr výšky pohárku hlavičky zrakového nervu k výšce disku je 1,0 (normální poměr pohárku a disku je 0,3). OFFICIAL +en cs HP:0031978 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disk is 1.0 (The normal cup-to-disc ratio is 0.3). Poměr výšky pohárku hlavičky zrakového nervu k výšce disku je 1,0 (normální poměr pohárku a disku je 0,3). CANDIDATE en cs HP:0031978 rdfs:label Increased vertical cup-to-disc ratio - 1.0 Zvýšený vertikální poměr pohárku k disku - 1,0 OFFICIAL en cs HP:0031979 IAO:0000115 Any deviation from the normal concentration of a carbohydrate in the urine. Jakákoli odchylka od normální koncentrace karbohydrátů v moči. OFFICIAL en cs HP:0031979 rdfs:label Abnormal urine carbohydrate level Abnormální hladina sacharidů v moči OFFICIAL @@ -22072,23 +22072,23 @@ en cs HP:0032023 IAO:0000115 Cellular infiltrate confirmed by a cellular infiltr en cs HP:0032023 rdfs:label Eosinophilic gallbladder infiltration Eozinofilní infiltrace žlučníku OFFICIAL en cs HP:0032024 IAO:0000115 An erosion of the mucous membrane in a portion of the ileum. Eroze sliznice v části ilea OFFICIAL en cs HP:0032024 rdfs:label Ileal ulcer Ileální vřed OFFICIAL -en cs HP:0032025 IAO:0000115 A reduced concentration or activity of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs. Snížená koncentrace cirkulujícího alfa1-antitrypsinu, glykoproteinu o velikosti 52-kDam který je syntetizovaný a vylučovaný hepatocyty do krevního řečiště. Alfa1-antitrypsin je inhibitor séroproteinázy, který má zásadní význam pro udržení proteázové homeostázy v plicích CANDIDATE +en cs HP:0032025 IAO:0000115 A reduced concentration or activity of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesized and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs. Snížená koncentrace cirkulujícího alfa1-antitrypsinu, glykoproteinu o velikosti 52-kDam který je syntetizovaný a vylučovaný hepatocyty do krevního řečiště. Alfa1-antitrypsin je inhibitor séroproteinázy, který má zásadní význam pro udržení proteázové homeostázy v plicích CANDIDATE en cs HP:0032025 rdfs:label Reduced circulating alpha-1-antitrypsin concentration Snížená hladina sérového alfa1-antitrypsinu CANDIDATE en cs HP:0032026 IAO:0000115 Circumscribed area of flaccid skin due to the loss of elastic tissue in the dermis. Ohraničená oblast ochablé kůže v důsledku ztráty elastické tkáně v dermis. OFFICIAL en cs HP:0032026 rdfs:label Anetoderma Anetodermie OFFICIAL -en cs HP:0032027 IAO:0000115 Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size. Žluté, bílé nebo šedavé léze na sítnici, které jsou dobře ohraničené/výrazné, jednotlivé a většinou stejné velikosti. OFFICIAL +en cs HP:0032027 IAO:0000115 Yellow, white or grayish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size. Žluté, bílé nebo šedavé léze na sítnici, které jsou dobře ohraničené/výrazné, jednotlivé a většinou stejné velikosti. CANDIDATE en cs HP:0032027 rdfs:label Retinal dots Sítnicové tečky OFFICIAL -en cs HP:0032028 IAO:0000115 Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size. Žluté, bílé nebo šedavé léze v makule, které jsou dobře ohraničené/výrazné, jednotlivé a většinou stejné velikosti. OFFICIAL +en cs HP:0032028 IAO:0000115 Yellow, white or grayish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size. Žluté, bílé nebo šedavé léze v makule, které jsou dobře ohraničené/výrazné, jednotlivé a většinou stejné velikosti. CANDIDATE en cs HP:0032028 rdfs:label Macular dots Makulární tečky OFFICIAL en cs HP:0032029 IAO:0000115 Excessive eyelid tissue laxity, typically affecting both upper eyelids and associated with spontanteous tarsal eversion during sleep. It is more common in the obese, it may be associated with obstructive sleep apnea and it may result in corneal exposure or chronic papillary conjunctivitis. Excesivní laxicita tkáně očního víčka, obvykle postihující obě horní víčka, asociovaná se spontánní tarzální everzí během spánku. Je častější u obézních osob, může být asociována s obstruktivní spánkovou apneou a může vést k chronické expozici rohovky zevnímu prostředí a k chronické papilární konjunktivitis. OFFICIAL en cs HP:0032029 rdfs:label Floppy eyelid Ochablé víčko OFFICIAL -en cs HP:0032030 IAO:0000115 Laxity of the tendon stabilising the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed. Zvýšená laxita šlachy stabilizující laterální část tarzální ploténky ke zygomatické kosti. Toto může vést k obloukovitému vzhledu laterálního očního koutku. Když je takové víčko odtaženo mediálně, je možné pozorovat pohyb kantálního úhlu o více než 2 mm. OFFICIAL +en cs HP:0032030 IAO:0000115 Laxity of the tendon stabilizing the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed. Zvýšená laxita šlachy stabilizující laterální část tarzální ploténky ke zygomatické kosti. Toto může vést k obloukovitému vzhledu laterálního očního koutku. Když je takové víčko odtaženo mediálně, je možné pozorovat pohyb kantálního úhlu o více než 2 mm. CANDIDATE en cs HP:0032030 rdfs:label Lateral canthal tendon laxity Laxicita laterálního kantálního vazu OFFICIAL -en cs HP:0032031 IAO:0000115 Laxity of the tendon stabilising the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally. Laxicita vazu stabilizujícího mediální část tarzální ploténky na anteriorní a posteriorní crista lacrimalis. Pokud se víčko odtáhne laterálně, dojde k posunu punctum lacrimale více než 2 mm. OFFICIAL +en cs HP:0032031 IAO:0000115 Laxity of the tendon stabilizing the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally. Laxicita vazu stabilizujícího mediální část tarzální ploténky na anteriorní a posteriorní crista lacrimalis. Pokud se víčko odtáhne laterálně, dojde k posunu punctum lacrimale více než 2 mm. CANDIDATE en cs HP:0032031 rdfs:label Medial canthal tendon laxity Laxicita mediálního kantálního vazu OFFICIAL en cs HP:0032032 IAO:0000115 Abnormally lax eyelid associated with tissue relaxation, predominantly in the horizontal plane. It can be demonstrated by the horizontal eyelid distraction test (e.g. by pulling the eyelid medially and laterally). Medial and/or lateral canthal tendon laxity are often present. Abnormální laxicita očního víčka asociována s relaxací tkání, predominantně v horizontální rovině. Může být ozřejmena distrakčním testem. Často je přítomna laxicita mediálních a/nebo laterálních vazů očního koutku. CANDIDATE en cs HP:0032032 rdfs:label Horizontal eyelid laxity Horizontální laxicita očního víčka OFFICIAL -en cs HP:0032033 IAO:0000115 Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilising structures (e.g. lower lid retractors) or tarsal atrophy are often present. Abnormálně laxní oční víčka asociované s relaxací tkání, predominantně ve vertikální rovině. Lze demonstrovat vertikálním tahem za víčko. Oslabení vertikálních stabilizačních struktur (e.g. dolních retraktorů víčka) či tarzální atrofie jsou často přítomny. OFFICIAL +en cs HP:0032033 IAO:0000115 Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilizing structures (e.g. lower lid retractors) or tarsal atrophy are often present. Abnormálně laxní oční víčka asociované s relaxací tkání, predominantně ve vertikální rovině. Lze demonstrovat vertikálním tahem za víčko. Oslabení vertikálních stabilizačních struktur (e.g. dolních retraktorů víčka) či tarzální atrofie jsou často přítomny. CANDIDATE en cs HP:0032033 rdfs:label Vertical eyelid laxity Vertikální laxicita očního víčka OFFICIAL en cs HP:0032034 IAO:0000115 Abnormally lax upper eyelid associated with tissue relaxation. Abnormálné laxní horní oční víčko asociované s relaxací tkání. OFFICIAL en cs HP:0032034 rdfs:label Upper eyelid laxity Laxicita horního očního víčka OFFICIAL @@ -22128,7 +22128,7 @@ en cs HP:0032053 IAO:0000115 A subtype of focal cortical dysplasia type II that en cs HP:0032053 rdfs:label Focal cortical dysplasia type IIb Fokální kortikální dysplázie typ IIb OFFICIAL en cs HP:0032054 IAO:0000115 A type of focal cortical dysplasia that is characterized by cortical lamination abnormalities associated with a principal lesion, usually adjacent to or affecting the same cortical area/lobe. Typ fokální kortikální dysplazie charakterizováný abnormalitami kortikální laminace spojenými s hlavní lézí, která obvykle sousedí se stejnou kortikální oblastí nebo postihuje stejný kortikální lalok. OFFICIAL en cs HP:0032054 rdfs:label Focal cortical dysplasia type III Fokální kortikální dysplázie typ III OFFICIAL -en cs HP:0032055 IAO:0000115 A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organisation (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis). Podtyp fokální kortikální dysplazie typu III, který je charakterizován změnami v architektonické organizaci (kortikální dyslaminace) nebo cytoarchitektonickém složení (hypertrofické neurony mimo vrstvu 5) u pacientů s hipokampální sklerózou. CANDIDATE +en cs HP:0032055 IAO:0000115 A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organization (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis). Podtyp fokální kortikální dysplazie typu III, který je charakterizován změnami v architektonické organizaci (kortikální dyslaminace) nebo cytoarchitektonickém složení (hypertrofické neurony mimo vrstvu 5) u pacientů s hipokampální sklerózou. CANDIDATE en cs HP:0032055 rdfs:label Focal cortical dysplasia type IIIa Fokální kortikální dysplázie typ IIIa OFFICIAL en cs HP:0032056 IAO:0000115 A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) and/or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to glial or glioneuronal tumor. Podtyp fokální kortikální dysplazie typu III, který se vyznačuje změněným architektonickým (kortikální dyslaminace, hypoplazie bez šestivrstevné struktury) a/nebo cytoarchitektonickým složením (hypertrofické neurony) neokortexu, které se vyskytují v blízkosti gliového nebo glioneuronálního nádoru. OFFICIAL en cs HP:0032056 rdfs:label Focal cortical dysplasia type IIIb Fokální kortikální dysplázie typ IIIb OFFICIAL @@ -22342,7 +22342,7 @@ en cs HP:0032168 IAO:0000115 An infection of the colon (colitis) by clostridium en cs HP:0032168 rdfs:label Clostridium difficile colitis Kolitida způsobená Clostridium difficile OFFICIAL en cs HP:0032169 IAO:0000115 A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection. Typ infekce, který je považován za příznak patologické náchylnosti k infekci z důvodu neobvyklé závažnosti nebo intenzity infekce. OFFICIAL en cs HP:0032169 rdfs:label Severe infection Závažná infekce OFFICIAL -en cs HP:0032170 IAO:0000115 An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterised by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella. Neobvykle závažná forma infekce virem Varicella zoster (VZV). Ve většině případů, zejména u dětí, je varicella velmi mírnou infekcí charakterizovanou kožními lézemi, nízkou horečkou a malátností. Těžká infekce je charakterizována projevy zahrnujícími VZV pneumonii, hepatitidu, meningitidu a diseminovanou varicellu. OFFICIAL +en cs HP:0032170 IAO:0000115 An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterized by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella. Neobvykle závažná forma infekce virem Varicella zoster (VZV). Ve většině případů, zejména u dětí, je varicella velmi mírnou infekcí charakterizovanou kožními lézemi, nízkou horečkou a malátností. Těžká infekce je charakterizována projevy zahrnujícími VZV pneumonii, hepatitidu, meningitidu a diseminovanou varicellu. CANDIDATE en cs HP:0032170 rdfs:label Severe varicella zoster infection Těžká infekce virem Varicella Zoster OFFICIAL en cs HP:0032171 IAO:0000115 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the urinary bladder. Bladder pain may be more pronounced with a full bladder and relieved upon urination, but this is not always the case. Nepříjemný pocit charakterizovaný fyzickým diskomfortem (jako je píchání, pulzování nebo bolest) lokalizovaný v močovém měchýři. Bolest močového měchýře může být výraznější při plném močovém měchýři a zmírnit se při močení, ale není tomu tak vždy. OFFICIAL en cs HP:0032171 rdfs:label Bladder pain Bolest v oblasti močového měchýře OFFICIAL @@ -22404,7 +22404,7 @@ en cs HP:0032200 IAO:0000115 The presence of thick collagen bundles around blood en cs HP:0032200 rdfs:label Perivascular fibrosis Perivaskulární fibróza OFFICIAL en cs HP:0032201 IAO:0000115 The term rotator cuff describes the tendons connecting the infraspinatus, supraspinatus, teres minor, and subscapularis muscles to the humeral head.Traumatic tears of the rotator cuff tend to occur at the tendon-bone junction of the supraspinatus and greater tuberosity of the humerus whereas degenerative tears tend to be seen posteriorly at the junction of the supraspinatus and infraspinatu A rotator cuff tear is when one or more of these tendons tears or detaches from the humerus. Ratátorova manžeta pozůstává ze čtyř svalů (m. supraspinatus, m. infraspinatus, m. teres minor a m. subscapularis), které jsou napojené blízku hlavice humeru prostřednictvím šlach a které se zcela zásadních způsobem podílejí na stabilitě a funkci ramene. Syndrom manžety rotátoru se vyskytně v případě, kdy je jedna nebo více šlach manžety natržena nebo odtržena od humeru. CANDIDATE en cs HP:0032201 rdfs:label Rotator cuff tear Syndrom manžety rotátoru OFFICIAL -en cs HP:0032202 IAO:0000115 Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognised: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC. Vulvární intraepiteliální neoplazie (VIN) je obecně považována za prekurzor vulvárního dlaždicobuněčného karcinomu (VSCC). VSCC vzniká buď cestou spojenou s lidským papiloma virem (HPV), nebo častěji mechanismem nezávislým na HPV, často spojeným s chronickými zánětlivými stavy, jako je lichen sclerosus (LS). V souladu s tím jsou uznávány dva odlišné podtypy VIN: HPV asociovaná skvamózní intraepiteliální léze vysokého stupně/obvyklá VIN (HSIL/uVIN) a HPV neasociovaná diferencovaná VIN (dVIN). HSIL se klinicky pozná podle multifokálního bradavičnatého vzhledu a histologicky podle nápadných cytologických a architektonických atypií. Diferencovaná VIN naproti tomu často vytváří špatně definované léze a na histologii notoricky napodobuje nenádorové epiteliální poruchy (NNED), zejména LS. V důsledku toho je dVIN zřídka identifikována dříve, než je diagnostikována invazivní malignita, přestože je prekurzorovou lézí většiny VSCC. OFFICIAL +en cs HP:0032202 IAO:0000115 Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognized: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC. Vulvární intraepiteliální neoplazie (VIN) je obecně považována za prekurzor vulvárního dlaždicobuněčného karcinomu (VSCC). VSCC vzniká buď cestou spojenou s lidským papiloma virem (HPV), nebo častěji mechanismem nezávislým na HPV, často spojeným s chronickými zánětlivými stavy, jako je lichen sclerosus (LS). V souladu s tím jsou uznávány dva odlišné podtypy VIN: HPV asociovaná skvamózní intraepiteliální léze vysokého stupně/obvyklá VIN (HSIL/uVIN) a HPV neasociovaná diferencovaná VIN (dVIN). HSIL se klinicky pozná podle multifokálního bradavičnatého vzhledu a histologicky podle nápadných cytologických a architektonických atypií. Diferencovaná VIN naproti tomu často vytváří špatně definované léze a na histologii notoricky napodobuje nenádorové epiteliální poruchy (NNED), zejména LS. V důsledku toho je dVIN zřídka identifikována dříve, než je diagnostikována invazivní malignita, přestože je prekurzorovou lézí většiny VSCC. CANDIDATE en cs HP:0032202 rdfs:label Vulvar intraepithelial neoplasia Intrepiteliální neoplázie vulvy OFFICIAL en cs HP:0032203 IAO:0000115 Lymphoid nodular hyperplasia (LNH) of the terminal ileum and colon has been considered a mucosal response to nonspecific stimuli, most often infections, and consequently has been regarded as a pathophysiologic phenomenon during infancy and childhood. LNH can be ascertained by colonoscopy, whereby a lymphoid nodule is defined as an extruding follicle with a diameter of not more than 2 mm, and LNH is defined as a cluster of not more than 10 of such extruding lymphoid nodules (see Figure 1 of PMID:17368236). Lymfoidní nodulární hyperplázie (LNH) terminálního ilea a tlustého střeva byla považována za slizniční odpověď na nespecifické podněty, nejčastěji infekce, a proto byla považována za patofyziologický jev v kojeneckém a dětském věku. LNH lze zjistit kolonoskopií, přičemž lymfoidní uzlík je definován jako extrudující folikul o průměru nejvýše 2 mm a LNH je definován jako shluk nejvýše 10 takových extrudujících lymfoidních uzlíků. OFFICIAL en cs HP:0032203 rdfs:label Lymphoid nodular hyperplasia Lymfoidní nodulární hyperplázie OFFICIAL @@ -22537,8 +22537,8 @@ en cs HP:0032270 IAO:0000115 A tram-track sign is composed of two enhancing area en cs HP:0032270 rdfs:label Optic nerve tram-track sign Příznak tzv. tramvajových kolejí optického nervu (tram track sign) OFFICIAL en cs HP:0032271 IAO:0000115 A type of tubercular infection located outside of the lung, which is the most common location of tuberculosis. There are two types of clinical manifestation of tuberculosis (TB) are pulmonary TB (PTB) and extrapulmonary TB (EPTB). The former is most common. EPTB refers to TB involving organs other than the lungs (e.g., pleura, lymph nodes, abdomen, genitourinary tract, skin, joints and bones, or meninges). A patient with both pulmonary and EPTB is classified as a case of PTB. Typ tuberkulózní infekce, která se nachází mimo plíce, což je nejčastější místo výskytu tuberkulózy. Existují dva typy klinických projevů tuberkulózy (TBC), a to plicní TBC (PTB) a mimoplicní TBC (EPTB). První z nich je nejčastější. EPTB označuje TBC postihující jiné orgány než plíce (např. pohrudnici, mízní uzliny, břicho, urogenitální trakt, kůži, klouby a kosti nebo mozkové blány). Pacient s plicní i EPTB je klasifikován jako případ PTB. OFFICIAL en cs HP:0032271 rdfs:label Extrapulmonary tuberculosis Extrapulmonální tuberkulóza OFFICIAL -en cs HP:0032272 IAO:0000115 Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry. Zvýšená hladina kyseliny N-acetylasparagové (NAA) v moči. Tuto vlastnost lze měřit pomocí plynové chromatografie s hmotnostní spektrometrií. OFFICIAL -en cs HP:0032272 rdfs:label Elevated urinary N-acetylaspartic acid level Zvýšená hladina kyseliny N-acetylasparagové v moči OFFICIAL +en cs HP:0032272 IAO:0000115 Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry Zvýšená hladina kyseliny N-acetylasparagové (NAA) v moči. Tuto vlastnost lze měřit pomocí plynové chromatografie s hmotnostní spektrometrií. OFFICIAL +en cs HP:0032272 rdfs:label obsolete Elevated urinary N-acetylaspartic acid level Zvýšená hladina kyseliny N-acetylasparagové v moči CANDIDATE en cs HP:0032273 IAO:0000115 Concentration of N-acetylaspartic acid in the blood circulation above the upper limit of normal. Abnormálně zvýšená koncentrace N-Acetylaspartátové kyseliny v krevním oběhu CANDIDATE en cs HP:0032273 rdfs:label Increased circulating N-acetylaspartic acid concentration Zvýšená koncentrace cirkulující N-acetylaspartátové kyseliny OFFICIAL en cs HP:0032274 IAO:0000115 An abnormally increased concentration of N-acetylaspartic acid in the cerebrospinal fluid (CSF). Abnormálně zvýšená koncentrace N-Acetylaspartátové kyseliny v mozkomíšném moku CANDIDATE @@ -22885,7 +22885,7 @@ en cs HP:0032454 IAO:0000115 Flat, distinct, discolored area on the lip less tha en cs HP:0032454 rdfs:label Labial melanotic macule Labiální melanotická makula CANDIDATE en cs HP:0032455 IAO:0000115 Reduced level of CD18 on the granulocyte surface. This feature can be assessed by flow cytometry. Snížená hladina CD18 na povrchu granulocytů. Tento stav může být zhodnocen průtokovou cytometrií. CANDIDATE en cs HP:0032455 rdfs:label Reduced granulocyte CD18 level Snížená hladina granulocytů CD18 CANDIDATE -en cs HP:0032456 IAO:0000115 A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and grey matter. Typ lissencefalie, při níž je při neuropatologickém vyšetření korová ploténka silně dezorganizovaná s věnčitým vzorem a bez laminace a jasného ohraničení bílé a šedé hmoty. CANDIDATE +en cs HP:0032456 IAO:0000115 A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and gray matter. Typ lissencefalie, při níž je při neuropatologickém vyšetření korová ploténka silně dezorganizovaná s věnčitým vzorem a bez laminace a jasného ohraničení bílé a šedé hmoty. CANDIDATE en cs HP:0032456 rdfs:label Unlayered lissencephaly Bezvrstvá lisencefalie CANDIDATE en cs HP:0032457 IAO:0000115 Pachygyria-agyria spectrum whereby at neuropathological examination the cortical plate consists of a two-three layered organization made up of a molecular layer, a relatively thin wavy layer with a higher cellular density and a third layer with lower cellularity. Pachygyrie-agyrie spektrum, kdy při neuropatologickém vyšetření tvoří korovou ploténku dvou- až třívrstevná struktura tvořená molekulární vrstvou, relativně tenkou zvlněnou vrstvou s vyšší buněčnou hustotou a třetí vrstvou s nižší celularitou. CANDIDATE en cs HP:0032457 rdfs:label 2-3-layered lissencephaly 2-3 vrstvá lissencefalie CANDIDATE @@ -23019,7 +23019,7 @@ en cs HP:0032527 rdfs:label Inferiorly positioned umbilicus Níže umístěný p en cs HP:0032528 IAO:0000115 An increased amount of 4-hydroxybutyric acid in the urine. Zvýšené množství kyseliny 4-hydroxymáselné v moči CANDIDATE en cs HP:0032528 rdfs:label Elevated urinary 4-hydroxybutyric acid Zvýšená hladina kyseliny 4-hydroxymáselné v moči CANDIDATE en cs HP:0032530 IAO:0000115 Reduced level of succinic semialdehyde dehydrogenase (SSADH). Snížená hladina sukcinát semialdehyd dehydrogenázy (SSADH) CANDIDATE -en cs HP:0032530 rdfs:label Decreased succinic semialdehyde dehydrogenase level Snížená hladina koncentrace semialdehydu dehydrogenázy CANDIDATE +en cs HP:0032530 rdfs:label Decreased tissue succinic semialdehyde dehydrogenase activity Snížená hladina koncentrace semialdehydu dehydrogenázy CANDIDATE en cs HP:0032531 rdfs:label Elevated CSF gamma-aminobutyric acid concentration Zvýšená koncentrace kyseliny gama-aminomáselné v mozkomíšním moku CANDIDATE en cs HP:0032532 IAO:0000115 Abnormally increased level of 4-hydroxybutyric acid in the cerebrospinal fluid (CSF). Abnormálně zvýšená hladina kyseliny 4_hydroxymáselné v mozkomíšním moku CANDIDATE en cs HP:0032532 rdfs:label Elevated CSF 4-hydroxybutyric acid concentration Zvýšená koncentrace kyseliny 4-hydroxymáselné v mozkomíšním moku CANDIDATE @@ -23311,7 +23311,7 @@ en cs HP:0032677 IAO:0000115 A generalized motor seizure is a type of generalize en cs HP:0032677 rdfs:label Generalized-onset motor seizure Generalizované motorické záchvaty CANDIDATE en cs HP:0032678 IAO:0000115 An eyelid myoclonia seizure is a type of generalized myoclonic seizure which may or may not be associated with loss of awareness. Myoklonie očních víček je typ generalizovaného myoklonického záchvatu, který může, ale nemusí být spojen se ztrátou vědomí. CANDIDATE en cs HP:0032678 rdfs:label Eyelid myoclonia seizure Záchvat s myokloniemi víček CANDIDATE -en cs HP:0032679 IAO:0000115 A type of focal-onset seizure characterized by non-motor signs or symptoms (or behaviour arrest) as its initial semiological manifestation. Typ fokálního záchvatu charakterizovaný nemotorickými příznaky nebo symptomy (nebo zárazy v chování) jako počátečním semiologickým projevem. CANDIDATE +en cs HP:0032679 IAO:0000115 A type of focal-onset seizure characterized by non-motor signs or symptoms (or behavior arrest) as its initial semiological manifestation. Typ fokálního záchvatu charakterizovaný nemotorickými příznaky nebo symptomy (nebo zárazy v chování) jako počátečním semiologickým projevem. CANDIDATE en cs HP:0032679 rdfs:label Focal non-motor seizure Fokální non-motorický záchvat CANDIDATE en cs HP:0032680 IAO:0000115 A focal cognitive seizure involves an alteration in a cognitive function (which can be a deficit or a positive phenomenon such as forced thought), which occurs at seizure onset. To be classified as a focal cognitive seizure, the change in cognitive function should be specific and out of proportion to other relatively unimpaired aspects of cognition, because all cognition is impaired in a focal impaired awareness seizure. Fokální kognitivní záchvat zahrnuje změnu kognitivní funkce (může se jednat o deficit nebo pozitivní jev, např. vynucené myšlení), ke které dochází při vzniku záchvatu. Aby mohl být fokální kognitivní záchvat klasifikován jako fokální kognitivní záchvat, měla by být změna kognitivní funkce specifická a neproporcionální vůči ostatním relativně neporušeným aspektům poznávání, protože při fokálním záchvatu poruchy vědomí je narušeno veškeré poznávání. CANDIDATE en cs HP:0032680 rdfs:label Focal cognitive seizure Fokální kognitivní záchvat CANDIDATE @@ -23417,7 +23417,7 @@ en cs HP:0032734 IAO:0000115 A focal emotional seizure during which awareness is en cs HP:0032734 rdfs:label Focal aware emotional seizure Fokální emoční záchvat bez poruchy vědomí CANDIDATE en cs HP:0032735 IAO:0000115 Focal emotional seizure with anger in which awareness is retained throughout. Fokální emoční záchvat dse zuřivostí, při kterém je po celou dobu zachováno vědomí CANDIDATE en cs HP:0032735 rdfs:label Focal aware emotional seizure with anger Fokální emoční záchvat se zuřivostí bez poruchy vědomí CANDIDATE -en cs HP:0032736 IAO:0000115 Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behaviour. Fokální emoční záchvat s hněvem je charakterizován přítomností hněvu jako vyjádřené nebo pozorované emoce na začátku záchvatu. Může být doprovázen agresivním chováním. CANDIDATE +en cs HP:0032736 IAO:0000115 Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behavior. Fokální emoční záchvat s hněvem je charakterizován přítomností hněvu jako vyjádřené nebo pozorované emoce na začátku záchvatu. Může být doprovázen agresivním chováním. CANDIDATE en cs HP:0032736 rdfs:label Focal emotional seizure with anger Fokální emoční záchvat se zuřivostí CANDIDATE en cs HP:0032737 IAO:0000115 Focal emotional seizure with paranoia is characterized by the presence of paranoia as an expressed or observed emotion at the outset of the seizure. Fokální emoční záchvat s paranoiou je charakterizován přítomností paranoie jako vyjádřené nebo pozorované emoce na počátku záchvatu. CANDIDATE en cs HP:0032737 rdfs:label Focal emotional seizure with paranoia Fokální emoční záchvat s paranoiou CANDIDATE @@ -23455,7 +23455,7 @@ en cs HP:0032753 IAO:0000115 A focal emotional seizure with agitation in which a en cs HP:0032753 rdfs:label Focal impaired awareness emotional seizure with agitation Fokální emoční záchvat s agitovaností a s poruchou vědomí CANDIDATE en cs HP:0032754 IAO:0000115 A focal sensory seizure during which awareness is retained throughout the seizure. Fokální senzorický záchvat, při kterém je vědomí zachováno po celou dobu záchvatu. CANDIDATE en cs HP:0032754 rdfs:label Focal aware sensory seizure Fokální senzorický záchvat bez poruchy vědomí CANDIDATE -en cs HP:0032755 IAO:0000115 A focal autonomic seizure characterised by impaired awareness at some point within the seizure. Fokální autonomní záchvat charakterizovaný poruchou vědomí v určitém okamžiku záchvatu CANDIDATE +en cs HP:0032755 IAO:0000115 A focal autonomic seizure characterized by impaired awareness at some point within the seizure. Fokální autonomní záchvat charakterizovaný poruchou vědomí v určitém okamžiku záchvatu CANDIDATE en cs HP:0032755 rdfs:label Focal impaired awareness autonomic seizure Fokální autonomní záchvat s poruchou vědomí CANDIDATE en cs HP:0032756 IAO:0000115 A focal cognitive seizure in which awareness is partially or fully impaired at some point during the seizure. Fokální kognitivní záchvat, při kterém je vědomí v určitém okamžiku záchvatu částečně nebo úplně narušeno CANDIDATE en cs HP:0032756 rdfs:label Focal impaired awareness cognitive seizure Fokální kognitivní záchvat s poruchnou vědomí CANDIDATE @@ -23473,7 +23473,7 @@ en cs HP:0032762 IAO:0000115 A type of focal autonomic seizure characterized by en cs HP:0032762 rdfs:label Focal autonomic seizure with pallor/flushing Fokální autonomní záchvat s bledostí/červenáním CANDIDATE en cs HP:0032763 IAO:0000115 A type of focal autonomic seizure characterized by pupillary dilatation or contraction as the initial semiological feature. Typ fokálního autonomního záchvatu charakterizovaný dilatací nebo kontrakcí zornic jako počátečním semiologickým příznakem CANDIDATE en cs HP:0032763 rdfs:label Focal autonomic seizure with pupillary dilation/constriction Fokální autonomní záchvat s dilatací/konstrikcí zornic CANDIDATE -en cs HP:0032764 IAO:0000115 A type of focal autonomic seizure characterised by penile erection as the initial semiological feature. Typ fokálního autonomního záchvatu charakterizovaný erekcí penisu jako počátečním semiologickým příznakem CANDIDATE +en cs HP:0032764 IAO:0000115 A type of focal autonomic seizure characterized by penile erection as the initial semiological feature. Typ fokálního autonomního záchvatu charakterizovaný erekcí penisu jako počátečním semiologickým příznakem CANDIDATE en cs HP:0032764 rdfs:label Focal autonomic seizure with erection Fokální autonomní záchvat s erekcí CANDIDATE en cs HP:0032765 IAO:0000115 A type of focal autonomic seizure characterized by an urge to unripe or defecate as the initial semiological feature. Typ fokálního autonomního záchvatu charakterizovaného nutkáním na močení nebo defekaci jako počátečním semiologickým příznakem CANDIDATE en cs HP:0032765 rdfs:label Focal autonomic seizure with urge to urinate/defecate Fokální autonomní záchvat s nutkáním na močení/defekaci CANDIDATE @@ -23522,19 +23522,19 @@ en cs HP:0032787 IAO:0000115 A focal sensory seizure in which awareness is parti en cs HP:0032787 rdfs:label Focal impaired awareness sensory seizure Fokální senzorický záchvat s poruchou vědomí OFFICIAL en cs HP:0032788 IAO:0000115 A focal autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by impaired awareness at some point during the seizure. Fokální autonomní záchvat s palpitacemi / tachykardií / bradykardií / asystolií charakterizovaný poruchou vědomí v určitém okamžiku záchvatu. OFFICIAL en cs HP:0032788 rdfs:label Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole Fokální autonomním záchvat s palpitacemi/tachykardií/bradykardií/asystolií a s poruchou vědomí OFFICIAL -en cs HP:0032789 IAO:0000115 A focal behavior arrest seizure characterised by retained awareness throughout the seizure. Fokální záchvat se zárazem v chování charakterizovaný zachovaným vědomím po celou dobu záchvatu. OFFICIAL +en cs HP:0032789 IAO:0000115 A focal behavior arrest seizure characterized by retained awareness throughout the seizure. Fokální záchvat se zárazem v chování charakterizovaný zachovaným vědomím po celou dobu záchvatu. CANDIDATE en cs HP:0032789 rdfs:label Focal aware behavior arrest seizure Fokální záchvat se zárazem v chování bez poruchy vědomí OFFICIAL -en cs HP:0032790 IAO:0000115 A focal behavior arrest seizure characterised by impaired awareness at some point during the seizure. Fokální záchvat se zárazem v chování charakterizovaný poruchou vědomí v určitém okamžiku záchvatu. OFFICIAL +en cs HP:0032790 IAO:0000115 A focal behavior arrest seizure characterized by impaired awareness at some point during the seizure. Fokální záchvat se zárazem v chování charakterizovaný poruchou vědomí v určitém okamžiku záchvatu. CANDIDATE en cs HP:0032790 rdfs:label Focal impaired awareness behavior arrest seizure Fokální záchvat se zárazem v chování a poruchou vědomí OFFICIAL en cs HP:0032791 IAO:0000115 A focal cognitive seizure with anomia characterized by impairment of awareness at some point during the seizure. Fokální kognitivní záchvat s anomií charakterizovaný poruchou vědomí v určitém okamžiku během záchvatu OFFICIAL en cs HP:0032791 rdfs:label Focal impaired awareness cognitive seizure with anomia Fokální kognitivní záchvat s anomií a poruchou vědomí OFFICIAL -en cs HP:0032792 IAO:0000115 A tonic seizure is a type of motor seizure characterised by unilateral or bilateral limb stiffening or elevation, often with neck stiffening. Tonický záchvat je typ motorického záchvatu charakterizovaný jednostranným nebo oboustranným ztuhnutím nebo elevací končetin, často se ztuhnutím krku. OFFICIAL +en cs HP:0032792 IAO:0000115 A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening. Tonický záchvat je typ motorického záchvatu charakterizovaný jednostranným nebo oboustranným ztuhnutím nebo elevací končetin, často se ztuhnutím krku. CANDIDATE en cs HP:0032792 rdfs:label Tonic seizure Tonický záchvat OFFICIAL en cs HP:0032793 IAO:0000115 A focal cognitive seizure with receptive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure. Fokální kognitivní záchvat s receptivní dysfázií / afázií charakterizovaný poruchou vědomí v určitém okamžiku záchvatu. OFFICIAL en cs HP:0032793 rdfs:label Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia Fokální kognitivní záchvat s poruchou vědomí a s receptivní dysfázií/afázií OFFICIAL -en cs HP:0032794 IAO:0000115 A myoclonic seizure is a type of motor seizure characterised by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. Myoklonický záchvat je typ motorického záchvatu charakterizovaný náhlou, krátkou (100 ms) mimovolní kontrakcí jednoho nebo více svalů nebo svalových skupin s různou topografií (axiální, proximální končetiny, distální). Myoklonus je méně pravidelně se opakující a méně trvalý než klonus. CANDIDATE +en cs HP:0032794 IAO:0000115 A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. Myoklonický záchvat je typ motorického záchvatu charakterizovaný náhlou, krátkou (100 ms) mimovolní kontrakcí jednoho nebo více svalů nebo svalových skupin s různou topografií (axiální, proximální končetiny, distální). Myoklonus je méně pravidelně se opakující a méně trvalý než klonus. CANDIDATE en cs HP:0032794 rdfs:label Myoclonic seizure Myoklonický záchvat OFFICIAL -en cs HP:0032795 IAO:0000115 A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterised by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus. Generalizované myoklonicko-tonicko-klonické křeče jsou typem generalizované motorické křeče charakterizované jedním nebo více záškuby končetin oboustranně, po nichž následuje tonická a klonická fáze. Počáteční záškuby lze považovat buď za krátké období klonu, nebo za myoklonus. CANDIDATE +en cs HP:0032795 IAO:0000115 A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterized by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus. Generalizované myoklonicko-tonicko-klonické křeče jsou typem generalizované motorické křeče charakterizované jedním nebo více záškuby končetin oboustranně, po nichž následuje tonická a klonická fáze. Počáteční záškuby lze považovat buď za krátké období klonu, nebo za myoklonus. CANDIDATE en cs HP:0032795 rdfs:label Generalized myoclonic-tonic-clonic seizure Generalizované myoklonicko-tonicko-klonické křeče CANDIDATE en cs HP:0032796 IAO:0000115 A focal cognitive seizure with left-right confusion characterized by impairment of awareness at some point during the seizure. Fokální kognitivní křeč s levopravou dezorientací charakterizovanou poruchou vědomí v určitém okamžiku křeče. CANDIDATE en cs HP:0032796 rdfs:label Focal impaired awareness cognitive seizure with left-right confusion Fokální porucha vědomí s kognitivním záchvatem s levopravou dezorientací CANDIDATE @@ -23645,7 +23645,7 @@ en cs HP:0032849 IAO:0000115 Aphasic status epilepticus is a type of focal non-c en cs HP:0032849 rdfs:label Aphasic status epilepticus Afázický status epilepticus CANDIDATE en cs HP:0032850 IAO:0000115 A focal cognitive seizure with expressive dysphasia / aphasia characterized by retained awareness throughout the seizure. Fokální kognitivní záchvat s expresivní dysfázií/afázií charakterizovaný zachovaným vědomím po celou dobu záchvatu CANDIDATE en cs HP:0032850 rdfs:label Focal aware cognitive seizure with expressive dysphasia/aphasia Fokální kognitivní záchvat s expresivní dysfázií/afázií bez poruchy vědomí OFFICIAL -en cs HP:0032851 IAO:0000115 A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis. Záchvat charakterizovaný zrakovými halucinacemi, jako jsou blikající světla/barvy, tvary, jednoduché obrazce, skotomata nebo amauróza. CANDIDATE +en cs HP:0032851 IAO:0000115 A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis. Záchvat charakterizovaný zrakovými halucinacemi, jako jsou blikající světla/barvy, tvary, jednoduché obrazce, skotomata nebo amauróza. CANDIDATE en cs HP:0032851 rdfs:label Focal aware sensory seizure with visual features Fokální senzorický záchvat s vizuálními fenomény bez poruchy vědomí CANDIDATE en cs HP:0032852 IAO:0000115 A focal cognitive seizure with conduction dysphasia / aphasia characterized by impairment of awareness at some point during the seizure. Fokální kognitivní záchvat s kondukční dysfázií / afázií charakterizovaný poruchou vědomí v určitém okamžiku během záchvatu CANDIDATE en cs HP:0032852 rdfs:label Focal impaired awareness cognitive seizure with conduction dysphasia/aphasia Fokální kognitivní záchvat s poruchou vědomí a s kondukční dysfázií/afázií CANDIDATE @@ -23795,7 +23795,7 @@ en cs HP:0032926 IAO:0000115 A type of focal automatism in which awareness is pa en cs HP:0032926 rdfs:label Focal impaired awareness head nodding automatism seizure Fokální záchvat se automatismy kývání hlavou a s poruchou vědomí CANDIDATE en cs HP:0032927 IAO:0000115 A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary undressing at onset. Typ fokálního záchvatu s automatismy, při kterém je vědomí částečně nebo úplně narušeno v určitém okamžiku během záchvatu, a který je charakterizován mimovolním svlékáním na začátku záchvatu. CANDIDATE en cs HP:0032927 rdfs:label Focal impaired awareness undressing automatism seizure Fokální záchvat se svlékacími automatismy a s poruchou vědomí CANDIDATE -en cs HP:0032928 IAO:0000115 Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large calibre myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases. Lehký řetězec neurofilament (NfL) je neuronální cytoplazmatický protein vysoce exprimovaný v myelinizovaných axonech velkého kalibru. Jeho hladina se zvyšuje v mozkomíšním moku (likvoru) a krvi úměrně stupni axonálního poškození u různých neurologických poruch, včetně zánětlivých, neurodegenerativních, traumatických a cerebrovaskulárních onemocněn CANDIDATE +en cs HP:0032928 IAO:0000115 Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large caliber myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases. Lehký řetězec neurofilament (NfL) je neuronální cytoplazmatický protein vysoce exprimovaný v myelinizovaných axonech velkého kalibru. Jeho hladina se zvyšuje v mozkomíšním moku (likvoru) a krvi úměrně stupni axonálního poškození u různých neurologických poruch, včetně zánětlivých, neurodegenerativních, traumatických a cerebrovaskulárních onemocněn CANDIDATE en cs HP:0032928 rdfs:label Elevated CSF neurofilament light chain concentration Zvýšená koncentrace lehkých řetězců neurofilament v likvoru CANDIDATE en cs HP:0032929 IAO:0000115 Any abnormal structure of a chondrocyte, which is a polymorphic cell that forms cartilage. Jakákoli abnormální struktura chondrocytu, což je buňka tvořící chrupavku CANDIDATE en cs HP:0032929 rdfs:label Abnormal chondrocyte morphology Abnormální morfologie chondrocytu CANDIDATE @@ -24066,7 +24066,7 @@ en cs HP:0033065 rdfs:label Mild albuminuria Malá albuminurie CANDIDATE en cs HP:0033066 IAO:0000115 The presence of severely increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio greater than 300 mg/gm (greater than 34 mg/mmol). Přítomnost výrazně zvýšené koncentrace albuminu v moči, definované jako poměr albuminu a kreatininu vyšší než 300 mg/gm (více než 34 mg/mmol). CANDIDATE en cs HP:0033066 rdfs:label Severe albuminuria Závažná albuminurie CANDIDATE en cs HP:0033067 rdfs:label Cystine crystalluria Cystinová krystalurie CANDIDATE -en cs HP:0033068 IAO:0000115 A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber colour. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance. Různé léky mohou příležitostně způsobit přechodnou krystalurii, izolovaně nebo ve spojení s jinými abnormalitami moči. Předávkování, dehydratace nebo hypoalbuminémie, které zvyšují množství nenavázaného léčiva, které je ultrafiltrováno glomerulem, jsou faktory obvykle podporující precipitaci krystalů v lumen tubulů. V některých případech má medikamentózní krystalurie typický fenotypový vzhled. Například krystaly sulfadiazinu se jeví jako silně dvojlomné „stohy pšenice“ nebo „skořápky“ s jantarovou barvou. Krystaly acykloviru jsou dvojlomné a jehličkovité, a když jsou hojné, dávají moči hedvábný a opaleskující makroskopický vzhled. CANDIDATE +en cs HP:0033068 IAO:0000115 A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber color. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance. Různé léky mohou příležitostně způsobit přechodnou krystalurii, izolovaně nebo ve spojení s jinými abnormalitami moči. Předávkování, dehydratace nebo hypoalbuminémie, které zvyšují množství nenavázaného léčiva, které je ultrafiltrováno glomerulem, jsou faktory obvykle podporující precipitaci krystalů v lumen tubulů. V některých případech má medikamentózní krystalurie typický fenotypový vzhled. Například krystaly sulfadiazinu se jeví jako silně dvojlomné „stohy pšenice“ nebo „skořápky“ s jantarovou barvou. Krystaly acykloviru jsou dvojlomné a jehličkovité, a když jsou hojné, dávají moči hedvábný a opaleskující makroskopický vzhled. CANDIDATE en cs HP:0033068 rdfs:label Medication crystalluria Medikamentózní krystalurie CANDIDATE en cs HP:0033069 IAO:0000115 An increased number of IgG4+ plasma cells in the interstitial space of the kidney. Zvýšený počet IgG4+ plazmatických buněk v intersticiálním prostoru ledviny CANDIDATE en cs HP:0033069 rdfs:label Renal interstitial IgG4+ plasma cell infiltration Renální intersticiální infiltrace IgG4+ plazmatickými buňkami CANDIDATE @@ -24182,7 +24182,7 @@ en cs HP:0033124 IAO:0000115 An increased level of sorbitol in the blood circula en cs HP:0033124 rdfs:label Increased serum sorbitol concentration Zvýšený sérová koncentrace sorbitolu CANDIDATE en cs HP:0033125 IAO:0000115 An indolent B cell lymphoproliferative disorder of transformed follicular center B cells. Follicular lymphoma is characterized by diffuse lymphadenopathy, bone marrow involvement, splenomegaly and less commonly other extranodal sites of involvement. Indolentní lymfoproliferativní onemocnění transformovaných buněk B folikulárního centra. Folikulární lymfom je charakterizován difuzní lymfadenopatií, postižením kostní dřeně, splenomegalií a méně často dalšími extranodálními místy postižení. CANDIDATE en cs HP:0033125 rdfs:label Follicular lymphoma Folikulární lymfom CANDIDATE -en cs HP:0033126 IAO:0000115 Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red coloured skin. Nekróza kůže a podkožní tkáně (odumření tkáně). Klinicky se kožní nekróza může projevovat jako bolestivá a extrémně citlivá černá eschara (odumřelá tkáň v ráně v celé tloušťce) obklopená tmavě šedočerveně zbarvenou kůží. CANDIDATE +en cs HP:0033126 IAO:0000115 Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red colored skin. Nekróza kůže a podkožní tkáně (odumření tkáně). Klinicky se kožní nekróza může projevovat jako bolestivá a extrémně citlivá černá eschara (odumřelá tkáň v ráně v celé tloušťce) obklopená tmavě šedočerveně zbarvenou kůží. CANDIDATE en cs HP:0033126 rdfs:label Cutaneous necrosis Kožní nekróza CANDIDATE en cs HP:0033127 IAO:0000115 An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body. Anomálie pohybového aparátu, který se skládá z kostí, svalů, chrupavek, šlach, vazů, kloubů a další pojivové tkáně. Muskuloskeletální systém podporuje váhu těla, udržuje polohu těla a umožňuje vytvářet pohyby těla nebo jeho částí CANDIDATE en cs HP:0033127 rdfs:label Abnormality of the musculoskeletal system Abnormalita muskuloskeletálního systému Porucha pohybového aparátu OFFICIAL @@ -24619,7 +24619,7 @@ en cs HP:0033347 IAO:0000115 A purely subjective manifestation of an epileptic s en cs HP:0033347 rdfs:label Cognitive epileptic aura Kognitivní epileptická aura CANDIDATE en cs HP:0033348 IAO:0000115 An epileptic aura is a purely subjective clinical manifestation of an epileptic seizure. If an epileptic aura is not followed by loss of awareness or propagation to a bilateral tonic-clonic seizure then it is a type of focal aware non-motor seizure. Epileptická aura je čistě subjektivní klinický projev epileptického záchvatu. Pokud po epileptické auře nenásleduje ztráta vědomí nebo propagace do oboustranného tonicko-klonického záchvatu, jedná se o typ fokálního vědomého nemotorického záchvatu. CANDIDATE en cs HP:0033348 rdfs:label Epileptic aura Epileptická aura CANDIDATE -en cs HP:0033349 IAO:0000115 A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognisable by the primary clinician, carer or patient. Čtyřnásobné nebo větší zvýšení obvyklé frekvence záchvatů během třídenního období, kdy pacient prokáže úplné zotavení mezi jednotlivými záchvaty v rámci nakupení. Nakupení záchvatů by mělo být rozpoznatelné pro primárního lékaře, ošetřovatele nebo pacienta. CANDIDATE +en cs HP:0033349 IAO:0000115 A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognizable by the primary clinician, carer or patient. Čtyřnásobné nebo větší zvýšení obvyklé frekvence záchvatů během třídenního období, kdy pacient prokáže úplné zotavení mezi jednotlivými záchvaty v rámci nakupení. Nakupení záchvatů by mělo být rozpoznatelné pro primárního lékaře, ošetřovatele nebo pacienta. CANDIDATE en cs HP:0033349 rdfs:label Seizure cluster Nakupení záchvatů CANDIDATE en cs HP:0033350 IAO:0000115 An increase in the amount of air a person can forcefully expel in one second, compared to some standard or previous measure of same subject. Zvýšené množství vzduchu, které může člověk násilně vydechnout za jednu sekundu, ve srovnání se standardním měřením nebo s předchozím měřením stejného subjektu. CANDIDATE en cs HP:0033350 rdfs:label Elevated forced expiratory volume in one second Zvětšená jednovteřinová vitální kapacita (FEV1) CANDIDATE @@ -24717,7 +24717,7 @@ en cs HP:0033396 IAO:0000115 Presence of ropey, eosinophilic material (brght red en cs HP:0033396 rdfs:label Glomerular extracapillary fibrin Glomerulární extrakapilární fibrin CANDIDATE en cs HP:0033397 IAO:0000115 The presence of eosinophilic Periodic Acid Schiff (PAS)-positive cell free, protein-derived material occupying Bowman's space. Přítomnost eozinofilního, PAS (Periodic Acid Schiff) pozitivního bezbuněčného, proteínového materiálu, který zabírá Bowmanův prostor CANDIDATE en cs HP:0033397 rdfs:label Bowman-space proteinaceous debris Proteínová debris v Bowmanově prostoru CANDIDATE -en cs HP:0033398 IAO:0000115 Deposits of hyalinized collagen fibres in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs). Uložení hyalinizovaných kolagenních vláken v parietální pleuře (přednostně v pleuře přiléhající k žebrům, zejména k šestému až devátému žebru). CANDIDATE +en cs HP:0033398 IAO:0000115 Deposits of hyalinized collagen fibers in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs). Uložení hyalinizovaných kolagenních vláken v parietální pleuře (přednostně v pleuře přiléhající k žebrům, zejména k šestému až devátému žebru). CANDIDATE en cs HP:0033398 rdfs:label Pleural plaque Pleurální plak CANDIDATE en cs HP:0033399 IAO:0000115 Fever that persists longer than expected for an acute infectious disease. No precise threshold exists, and the clinical interpretation of fever is context-dependent, but as a rule of thumb, this term refers to fever that persists longer than 2-3 weeks. Horečka, která přetrvává déle, než se u akutního infekčního onemocnění očekává. Přesná hranice neexistuje a klinická interpretace horečky závisí na kontextu, ale zpravidla se tento termín vztahuje na horečku, která přetrvává déle než 2-3 týdny. CANDIDATE en cs HP:0033399 rdfs:label Persistent fever Perzistující horečka CANDIDATE @@ -24808,7 +24808,7 @@ en cs HP:0033442 IAO:0000115 Concentration of glutarylcarnitine in the blood cir en cs HP:0033442 rdfs:label Elevated circulating glutarylcarnitine concentration Zvýšená koncentrace cirkulujícího glutarylkarnitinu CANDIDATE en cs HP:0033443 IAO:0000115 Increased concentration of propionylcarnitine in the blood circulation. Zvýšená koncentrace propionylkarnitinu v krevním oběhu CANDIDATE en cs HP:0033443 rdfs:label Elevated circulating propionylcarnitine concentration Zvýšená koncentrace cirkulujícího propionylkarnitinu CANDIDATE -en cs HP:0033444 IAO:0000115 Concentration of dodecanoylcarnitine in the blood circulation above the upper limit of normal. Zvýšená koncentrace dodekanoylkarnitinu v krevním oběhu CANDIDATE +en cs HP:0033444 IAO:0000115 Concentration of dodecanoylcarnitine (C12:0) in the blood circulation above the upper limit of normal. Zvýšená koncentrace dodekanoylkarnitinu v krevním oběhu CANDIDATE en cs HP:0033444 rdfs:label Elevated circulating dodecanoylcarnitine concentration Zvýšená koncentrace cirkulujícího dodekanoylkarnitinu CANDIDATE en cs HP:0033445 IAO:0000115 An abnormally reduced concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine. Abnormálně snížená koncentrace acylkarnitinu v krevním oběhu, který vzniká reverzibilní esterifikací 3-hydroxylové skupiny karnitinu. CANDIDATE en cs HP:0033445 rdfs:label Reduced circulating acylcarnitine concentration Snížená koncentrace cirkulujícího acylkarnitinu CANDIDATE @@ -25012,7 +25012,7 @@ en cs HP:0033550 IAO:0000115 A granuloma that is associated with necrotic change en cs HP:0033550 rdfs:label Necrotizing pulmonary granulomatosis Nekrotizující plicní granulomatóza CANDIDATE en cs HP:0033551 IAO:0000115 A granuloma located in the lung that is not associated with necrotic changes. Granulom v plicích, který není spojen s nekrotickými změnami. CANDIDATE en cs HP:0033551 rdfs:label Non-necrotizing pulmonary granulomatosis Nenekrotizující plicní granulomatóza CANDIDATE -en cs HP:0033552 IAO:0000115 Villitis of unknown etiology (synonymous with villitis of unknown aetiology) is a histologic diagnosis and, although it may have a variable distribution, evidence indicates that 3 parenchymal blocks will identify 62% of villitis, reaching an asymptote of 6 and 7 blocks identifying 85% of villitis. Villitis of unknown etiology by definition excludes those cases where an etiology is identified, such as viral or acute infections, and thus is preferred to the term nonspecific chronic villitis. It is usually lymphohistiocytic: although the presence of rare plasma cells does not exclude the diagnosis, thorough evaluation for an infectious etiology, such as cytomegalovirus, is required in a predominantly plasma cell villitis. Zánět choriových klků (vilitida) neznámé etiologie je histologická diagnóza, a přestože může mít proměnnou distribuci, důkazy naznačují, že 3 parenchymální bloky identifikují 62 % vilitidy a dosahují asymptoty 6 a 7 bloků identifikujících 85 % vilitidy. Vilitida neznámé etiologie podle definice vylučuje ty případy, kdy je identifikována etiologie, jako jsou virové nebo akutní infekce, a proto se jí dává přednost před termínem nespecifická chronická vilitida. Obvykle je lymfohistiocytární: ačkoli přítomnost vzácných plazmatických buněk nevylučuje diagnózu, u převážně plazmatické vilitidy je nutné důkladné vyšetření infekční etiologie, jako je cytomegalovirus. CANDIDATE +en cs HP:0033552 IAO:0000115 Villitis of unknown etiology (synonymous with villitis of unknown etiology) is a histologic diagnosis and, although it may have a variable distribution, evidence indicates that 3 parenchymal blocks will identify 62% of villitis, reaching an asymptote of 6 and 7 blocks identifying 85% of villitis. Villitis of unknown etiology by definition excludes those cases where an etiology is identified, such as viral or acute infections, and thus is preferred to the term nonspecific chronic villitis. It is usually lymphohistiocytic: although the presence of rare plasma cells does not exclude the diagnosis, thorough evaluation for an infectious etiology, such as cytomegalovirus, is required in a predominantly plasma cell villitis. Zánět choriových klků (vilitida) neznámé etiologie je histologická diagnóza, a přestože může mít proměnnou distribuci, důkazy naznačují, že 3 parenchymální bloky identifikují 62 % vilitidy a dosahují asymptoty 6 a 7 bloků identifikujících 85 % vilitidy. Vilitida neznámé etiologie podle definice vylučuje ty případy, kdy je identifikována etiologie, jako jsou virové nebo akutní infekce, a proto se jí dává přednost před termínem nespecifická chronická vilitida. Obvykle je lymfohistiocytární: ačkoli přítomnost vzácných plazmatických buněk nevylučuje diagnózu, u převážně plazmatické vilitidy je nutné důkladné vyšetření infekční etiologie, jako je cytomegalovirus. CANDIDATE en cs HP:0033552 rdfs:label Chronic villitis Chronická villitida CANDIDATE en cs HP:0033553 IAO:0000115 Embolization of intravascular thrombus containing microorganisms into the distant tissues via arterial system. Embolizace intravaskulárního trombu obsahujícího mikroorganismy do vzdálených tkání prostřednictvím arteriálního systému CANDIDATE en cs HP:0033553 rdfs:label Septic embolism Septický embolus CANDIDATE @@ -25064,11 +25064,11 @@ en cs HP:0033576 IAO:0000115 The presence of autoantibodies in the blood circula en cs HP:0033576 rdfs:label Anti-H2B antibody positivity Pozitivita anti-H2B protilátek CANDIDATE en cs HP:0033577 IAO:0000115 Localized thrombosis in pulmonary arteries frequently found in patients with idiopathic and hereditary pulmonary arterial hypertension and pulmonary arterial hypertension associated with congenital heart disease. Lokalizovaná trombóza v plicních tepnách, která se často vyskytuje u pacientů s idiopatickou a dědičnou plicní arteriální hypertenzí a plicní arteriální hypertenzí spojenou s vrozenou srdeční vadou. CANDIDATE en cs HP:0033577 rdfs:label In situ pulmonary artery thrombosis Trombóza plicních tepen in situ CANDIDATE -en cs HP:0033578 IAO:0000115 Pre-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg). Prekapilární plicní hypertenze je hemodynamický stav charakterizovaný zvýšeným středním tlakem v plicnici (mPAP nad 20 mmHg) a plicním cévním odporem (PVR 3 Woodovy jednotky nebo více) doprovázeným normálním tlakem v zaklínění plicnice (PAWP nejvýše 15 mmHg). CANDIDATE +en cs HP:0033578 IAO:0000115 Pre-capillary pulmonary hypertension is a haemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg). Prekapilární plicní hypertenze je hemodynamický stav charakterizovaný zvýšeným středním tlakem v plicnici (mPAP nad 20 mmHg) a plicním cévním odporem (PVR 3 Woodovy jednotky nebo více) doprovázeným normálním tlakem v zaklínění plicnice (PAWP nejvýše 15 mmHg). CANDIDATE en cs HP:0033578 rdfs:label Pre-capillary pulmonary hypertension Prekapilární plicní hypertenze CANDIDATE en cs HP:0033579 IAO:0000115 Insufficient growth hormone secretion following administration of growth hormone-releasing hormone. Nedostatečná sekrece růstového hormonu po podání hormonu uvolňujícího růstový hormon CANDIDATE en cs HP:0033579 rdfs:label Decreased growth hormone responses to growth hormone-releasing hormone challenge Snížená reakce růstového hormonu na působení hormonu uvolňujícího růstový hormon CANDIDATE -en cs HP:0033580 IAO:0000115 An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibres in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fibre action potentials. The shortest latency of the CMAP is the time from stimulus artefact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV). Abnormální nález při měření sumačního akčního potenciálu u EMG. Studie nervového vedení zahrnují aplikaci depolarizujících elektrických pulzů vln obdélnikového průběhu na kůži přes periferní nerv, čímž se vytvoří: (1) šířící se nervový akční potenciál (NAP) zaznamenaný ve vzdáleném bodě stejného nervu: a (2) sumární akční potenciál svalu (CMAP) vznikající aktivací svalových vláken v cílovém svalu zásobovaném nervem. Oba druhy mohou být zaznamenány povrchovými nebo jehlovými elektrodami. CMAP je souhrnná napěťová odezva z jednotlivých akčních potenciálů svalových vláken. Nejkratší latence CMAP je doba od stimulačního artefaktu do nástupu odpovědi a jedná se o dvoufázovou odezvu s počáteční výchylkou nahoru, po níž následuje menší výchylka dolů. Amplituda CMAP se měří od základní čáry po zápornou špičku (neurofyziologická konvence je, že záporné napětí se projevuje odchylkou směrem nahoru) a měří se v milivoltech (mV). CANDIDATE +en cs HP:0033580 IAO:0000115 An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibers in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fiber action potentials. The shortest latency of the CMAP is the time from stimulus artifact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV). Abnormální nález při měření sumačního akčního potenciálu u EMG. Studie nervového vedení zahrnují aplikaci depolarizujících elektrických pulzů vln obdélnikového průběhu na kůži přes periferní nerv, čímž se vytvoří: (1) šířící se nervový akční potenciál (NAP) zaznamenaný ve vzdáleném bodě stejného nervu: a (2) sumární akční potenciál svalu (CMAP) vznikající aktivací svalových vláken v cílovém svalu zásobovaném nervem. Oba druhy mohou být zaznamenány povrchovými nebo jehlovými elektrodami. CMAP je souhrnná napěťová odezva z jednotlivých akčních potenciálů svalových vláken. Nejkratší latence CMAP je doba od stimulačního artefaktu do nástupu odpovědi a jedná se o dvoufázovou odezvu s počáteční výchylkou nahoru, po níž následuje menší výchylka dolů. Amplituda CMAP se měří od základní čáry po zápornou špičku (neurofyziologická konvence je, že záporné napětí se projevuje odchylkou směrem nahoru) a měří se v milivoltech (mV). CANDIDATE en cs HP:0033580 rdfs:label Compound motor action potential abnormality Abnormalita sumačního akčního potenciálu CANDIDATE en cs HP:0033581 IAO:0000115 The absence of any palpable lymph nodes in the presence of symptoms suggesting infection in that drainage area should raise suspicion for immunodeficiency diseases. Absence hmatných lymfatických uzlin při přítomnosti příznaků naznačujících infekci v této drenážní oblasti by měla vyvolat podezření na onemocnění způsobené imunodeficitem. CANDIDATE en cs HP:0033581 rdfs:label Absent peripheral lymph nodes in presence of infection Chybějící periferní lymfatické uzliny v případě infekce CANDIDATE @@ -25134,7 +25134,7 @@ en cs HP:0033611 IAO:0000115 Part-solid pulmonary nodules are nodules that prese en cs HP:0033611 rdfs:label Part-solid pulmonary nodule Částečně solidní plicní uzel CANDIDATE en cs HP:0033612 IAO:0000115 Pure ground-glass pulmonary nodules (GGNs) are defined as focal nodular areas of increased lung attenuation through which lung parenchymal structures, such as the pulmonary vessels or bronchial structures, can be observed. Plicní uzel charakteru mléčného skla (pure ground-glass pulmonary nodule) je definovaný jako fokální nodulární oblast zvýšené atenuace plic, přes které lze pozorovat struktury plicního parenchymu, jako jsou plicní cévy nebo bronchiální struktury. CANDIDATE en cs HP:0033612 rdfs:label Pure ground-glass pulmonary nodule Plicní uzel charakteru mléčného skla CANDIDATE -en cs HP:0033613 IAO:0000115 Solid, homogenous nodules characterised by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes. Pevné, homogenní noduly vyznačující se hladkým okrajem a oválným, zaobleným, lentiformním nebo trojúhelníkovým tvarem. Obvykle se nacházejí do 15 mm od abnormality nebo od pleury. Perifisurální noduly lze dále rozlišovat na typické (mají kontakt s interlobární přepážkou) a atypické (nemají kontakt s interlobární přepážkou). Pravděpodobně představují intrapulmonální lymfatické uzliny. CANDIDATE +en cs HP:0033613 IAO:0000115 Solid, homogenous nodules characterized by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes. Pevné, homogenní noduly vyznačující se hladkým okrajem a oválným, zaobleným, lentiformním nebo trojúhelníkovým tvarem. Obvykle se nacházejí do 15 mm od abnormality nebo od pleury. Perifisurální noduly lze dále rozlišovat na typické (mají kontakt s interlobární přepážkou) a atypické (nemají kontakt s interlobární přepážkou). Pravděpodobně představují intrapulmonální lymfatické uzliny. CANDIDATE en cs HP:0033613 rdfs:label Perifissural pulmonary nodule Perifisurální plicní uzlík CANDIDATE en cs HP:0033614 IAO:0000115 Aberrant or accessory bronchus supplying the upper lobe originating from the lateral wall of the trachea. The tracheal bronchus is more commonly right-sided, has a variable length and may be blind-ended. Two common types of tracheal bronchus are: supernumerary and displaced. Aberantní nebo akcesorní bronchus zásobující horní lalok vycházející z laterální stěny trachey. Tracheální bronchus je častěji pravostranný, má proměnlivou délku a může být slepý. Dva běžné typy tracheálního bronchu jsou: nadpočetný a posunutý. CANDIDATE en cs HP:0033614 rdfs:label Tracheal bronchus Tracheální bronchus CANDIDATE @@ -25178,9 +25178,9 @@ en cs HP:0033633 IAO:0000115 An abnormal reduction in alveolar volume. Abnormál en cs HP:0033633 rdfs:label Decreased alveolar volume Snížený alveolární objem CANDIDATE en cs HP:0033634 IAO:0000115 An abnormal elevation in alveolar volume. Abnormální zvýšení alveolárního objemu CANDIDATE en cs HP:0033634 rdfs:label Increased alveolar volume Zvýšený alveolární objem CANDIDATE -en cs HP:0033635 IAO:0000115 Post-capillary pulmonary hypertension is a hemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units). Postkapilární plicní hypertenze je hemodynamický stav charakterizovaný zvýšeným středním tlakem v plicnici (mPAP větší než 20 mmHg) a tlakem v zaklínění plicnice (PAWP větší než 15 mmHg) a plicní vaskulární rezistencí (PVR menší než 3 Woodovy jednotky). CANDIDATE +en cs HP:0033635 IAO:0000115 Post-capillary pulmonary hypertension is a hemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units). Postkapilární plicní hypertenze je hemodynamický stav charakterizovaný zvýšeným středním tlakem v plicnici (mPAP větší než 20 mmHg) a tlakem v zaklínění plicnice (PAWP větší než 15 mmHg) a plicní vaskulární rezistencí (PVR menší než 3 Woodovy jednotky). CANDIDATE en cs HP:0033635 rdfs:label Post-capillary pulmonary hypertension Postkapilární plicní hypertenze CANDIDATE -en cs HP:0033636 IAO:0000115 Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units). Kombinovaná pre- a postkapilární plicní hypertenze je hemodynamický stav charakterizovaný zvýšeným středním tlakem v plicnici (mPAP nad 20 mmHg) a tlakem v zaklínění plicnice (PAWP nad 15 mmHg) a plicní vaskulární rezistencí (PVR alespoň 3 Woddovy jednotky). CANDIDATE +en cs HP:0033636 IAO:0000115 Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units). Kombinovaná pre- a postkapilární plicní hypertenze je hemodynamický stav charakterizovaný zvýšeným středním tlakem v plicnici (mPAP nad 20 mmHg) a tlakem v zaklínění plicnice (PAWP nad 15 mmHg) a plicní vaskulární rezistencí (PVR alespoň 3 Woddovy jednotky). CANDIDATE en cs HP:0033636 rdfs:label Combined pre- and post-capillary pulmonary hypertension Kombinovaná prekapilární a postkapilární plicní hypertenze CANDIDATE en cs HP:0033637 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endomysial tissue transglutaminase 2 (tTG2). Přítomnost autoprotilátek (imunoglobulinů) v krevním oběhu, které reagují proti endomysiální tkáňové transglutamináze 2 (tTG2). CANDIDATE en cs HP:0033637 rdfs:label Anti-endomysial antibody positivity Pozitivita anti-endomysiálních protilátek CANDIDATE @@ -25266,7 +25266,7 @@ en cs HP:0033678 IAO:0000115 The term acute coronary syndrome (ACS) refers to an en cs HP:0033678 rdfs:label Acute coronary syndrome Akutní koronární syndrom CANDIDATE en cs HP:0033679 IAO:0000115 Any structural anomaly of the red nucleus, a part of the midbrain involved in control of movement. Jakákoli strukturální anomálie nucleus ruber, části středního mozku zapojené do řízení pohybu. CANDIDATE en cs HP:0033679 rdfs:label Abnormal red nucleus morphology Abnormální morfologie nucleus ruber CANDIDATE -en cs HP:0033680 IAO:0000115 The most common form of astrocytoma (WHO Grade I) in childhood. These typically have MAPK signalling pathway abnormalities. Nejčastější forma astrocytomu (WHO grade I) v dětském věku. Obvykle se u nich vyskytují abnormality signální dráhy MAPK. CANDIDATE +en cs HP:0033680 IAO:0000115 The most common form of astrocytoma (WHO Grade I) in childhood. These typically have MAPK signaling pathway abnormalities. Nejčastější forma astrocytomu (WHO grade I) v dětském věku. Obvykle se u nich vyskytují abnormality signální dráhy MAPK. CANDIDATE en cs HP:0033680 rdfs:label Pilocytic astrocytoma Pilocytární astrocytom CANDIDATE en cs HP:0033681 IAO:0000115 Oligodendroglioma is a type of diffusely infiltrating glioma and constitutes approximately 5% of primary intracranial tumors. They often involve the cortical gray matter and are most commonly seen in the frontal lobes. OGs are generally low grade WHO grade II neoplasms that are slow-growing tumors and have a favorable treatment response when compared to other gliomas. Grade III anaplastic OG is a more malignant form of the tumor which portends a less favorable prognosis and may occur de novo or as degeneration from the lower grade OG. Oligodendrogliom je typ difuzně infiltrujícího gliomu a tvoří přibližně 5 % primárních intrakraniálních nádorů. Často postihují šedou kůru mozkovou a nejčastěji se vyskytují ve frontálních lalocích. Oligodendrogliomy jsou obecně novotvary nízkého stupně II podle WHO, které jsou pomalu rostoucími nádory a ve srovnání s jinými gliomy mají příznivou odpověď na léčbu. Anaplastický oligodendrogliom III. stupně je malignější forma nádoru, která předznamenává méně příznivou prognózu a může vzniknout de novo nebo jako degenerace z oligodendrogliomu nižšího stupně. CANDIDATE en cs HP:0033681 rdfs:label Oligodendroglioma Oligodendrogliom CANDIDATE @@ -26283,7 +26283,7 @@ en cs HP:0034190 IAO:0000115 Abnormal functionality of the fetal cardiovascular en cs HP:0034190 rdfs:label Abnormal fetal cardiovascular physiology Abnormální kardiovaskulární fyziologie plodu CANDIDATE en cs HP:0034191 IAO:0000115 Increased peak systolic velocity of the fetal middle cerebral artery (MCA) as evaluated by Doppler ultrasound. Zvýšená maximální systolická rychlost průtoku ve střední mozkové tepně (MCA) plodu hodnocená dopplerovským ultrazvukem CANDIDATE en cs HP:0034191 rdfs:label Elevated fetal middle cerebral artery peak systolic velocity Zvýšená maximální systolická rychlost střední mozkové tepny plodu CANDIDATE -en cs HP:0034192 IAO:0000115 Pulmonary embolism is caused by emboli, which have originated from venous thrombi, travelling to and occluding the arteries of the lung. Plicní embolie je způsobena emboliemi, které pocházejí z žilních trombů, putují do plicních tepen a ucpávají je. CANDIDATE +en cs HP:0034192 IAO:0000115 Pulmonary embolism is caused by emboli, which have originated from venous thrombi, traveling to and occluding the arteries of the lung. Plicní embolie je způsobena emboliemi, které pocházejí z žilních trombů, putují do plicních tepen a ucpávají je. CANDIDATE en cs HP:0034192 rdfs:label Pulmonary thromboembolism Plicní tromboembolizace CANDIDATE en cs HP:0034193 IAO:0000115 Cleavage within the epidermal keratinocytes, which is the innermost layer of the epidermis and consists of proliferating cells that give rise to the outer layers of the epidermis. Štěpení v epidermálních keratinocytech, což je nejvnitřnější vrstva epidermis a sestává z proliferujících buněk, které dávají vzniknout vnějším vrstvám epidermis. CANDIDATE en cs HP:0034193 rdfs:label Stratum basale cleavage Štěpení stratum basale CANDIDATE @@ -26501,7 +26501,7 @@ en cs HP:0034300 IAO:0000115 Reduced activity of the enzyme acid sphingomyelinas en cs HP:0034300 rdfs:label Decreased acid sphingomyelinase activity Snížená aktivita kyselé sfingomyelinázy CANDIDATE en cs HP:0034301 IAO:0000115 A malformation of the colon in which a pouch-like dilatation of a varying degree of shortened colon is associated with an anorectal malformation. The pouch usually terminates in a fistulous communication with the genitourinary tract. Malformace tlustého střeva, při níž je váčkovitá dilatace různého stupně zkrácení tlustého střeva spojena s anorektální malformací. Vak obvykle končí píštělí s močopohlavním ústrojím. CANDIDATE en cs HP:0034301 rdfs:label Congenital pouch colon Vrozené vychlípení tlustého střeva CANDIDATE -en cs HP:0034302 IAO:0000115 A congenitally anomalous enlarged optic disk (surface area greater than 2.50 square millimeters). It is considered to be a normal variant without physiological defects. Vrozeně anomálně zvětšený optický disk (plocha větší než 2,50 milimetru čtverečních). Považuje se za normální variantu bez fyziologických defektů. CANDIDATE +en cs HP:0034302 IAO:0000115 A congenitally anomalous enlarged optic disc (surface area greater than 2.50 square millimeters). It is considered to be a normal variant without physiological defects. Vrozeně anomálně zvětšený optický disk (plocha větší než 2,50 milimetru čtverečních). Považuje se za normální variantu bez fyziologických defektů. CANDIDATE en cs HP:0034302 rdfs:label Megalopapilla Megalopapila CANDIDATE en cs HP:0034303 IAO:0000115 A bifid T-wave with a notch duration between the 2 peaks at leasy 0.04 sec and an amplitude at least 0.05 mV. Rozdvojená vlna T s trváním zářezu mezi dvěma vrcholy nejméně 0,04 s a amplitudou nejméně 0,05 mV. CANDIDATE en cs HP:0034303 rdfs:label Notched T wave Vlna T se zářezem CANDIDATE @@ -26668,9 +26668,9 @@ en cs HP:0034386 IAO:0000115 A lower than normal left ventricular endsystolic di en cs HP:0034386 rdfs:label Reduced left ventricular endsystolic diameter Snížený endsystolický průměr levé komory CANDIDATE en cs HP:0034387 IAO:0000115 Encephalitis caused by bacterial infection. Encefalitida způsobená bakteriální infekcí CANDIDATE en cs HP:0034387 rdfs:label Bacterial encephalitis Bakteriální encefalitida CANDIDATE -en cs HP:0034388 IAO:0000115 Hilar lymphadenopathy is swelling or enlargement of lymph nodes localised in hila, wedge-shaped anatomical structures containing pulmonary vessels, major bronchi, nerves and lymph nodes. Hilar lymph nodes are not visible on chest X-ray if they are not enlarged. Hilar lymph node enlargement can be caused by benign and malignant conditions and can be symmetrical (bilateral) or asymmetrical (unilateral). Hilová lymfadenopatie je zduření nebo zvětšení lymfatických uzlin lokalizovaných v hilu, klínovité anatomické struktuře obsahující plicní cévy, hlavní průdušky, nervy a lymfatické uzliny. Hilové lymfatické uzliny nejsou na rentgenovém snímku hrudníku viditelné, pokud nejsou zvětšené. Zvětšení hilových lymfatických uzlin může být způsobeno benigními i maligními stavy a může být symetrické (oboustranné) nebo asymetrické (jednostranné). CANDIDATE +en cs HP:0034388 IAO:0000115 Hilar lymphadenopathy is swelling or enlargement of lymph nodes localized in hila, wedge-shaped anatomical structures containing pulmonary vessels, major bronchi, nerves and lymph nodes. Hilar lymph nodes are not visible on chest X-ray if they are not enlarged. Hilar lymph node enlargement can be caused by benign and malignant conditions and can be symmetrical (bilateral) or asymmetrical (unilateral). Hilová lymfadenopatie je zduření nebo zvětšení lymfatických uzlin lokalizovaných v hilu, klínovité anatomické struktuře obsahující plicní cévy, hlavní průdušky, nervy a lymfatické uzliny. Hilové lymfatické uzliny nejsou na rentgenovém snímku hrudníku viditelné, pokud nejsou zvětšené. Zvětšení hilových lymfatických uzlin může být způsobeno benigními i maligními stavy a může být symetrické (oboustranné) nebo asymetrické (jednostranné). CANDIDATE en cs HP:0034388 rdfs:label Hilar lymph node enlargement Zvětšení hilových lymfatických uzlin CANDIDATE -en cs HP:0034389 IAO:0000115 Pulmonary vein varix (PVV), refers to a localised dilatation of a pulmonary vein. PVV is a rare condition and can be congenital or acquired. PVV typically occur at the confluence of the veins adjacent to the left atrium. PVVs are sometimes classified into three morphological types: saccular, tortuous and confluent. Varixy plicních žil jsou lokalizované dilatace plicních žil. Jde o vzácný stav, který může být vrozený, nebo získaný. Obvykle se vyskytují na soutoku žil přiléhajících k levé síni. Někdy se dělí na tři morfologické typy: vakovité, tortuózní a splývající. CANDIDATE +en cs HP:0034389 IAO:0000115 Pulmonary vein varix (PVV), refers to a localized dilatation of a pulmonary vein. PVV is a rare condition and can be congenital or acquired. PVV typically occur at the confluence of the veins adjacent to the left atrium. PVVs are sometimes classified into three morphological types: saccular, tortuous and confluent. Varixy plicních žil jsou lokalizované dilatace plicních žil. Jde o vzácný stav, který může být vrozený, nebo získaný. Obvykle se vyskytují na soutoku žil přiléhajících k levé síni. Někdy se dělí na tři morfologické typy: vakovité, tortuózní a splývající. CANDIDATE en cs HP:0034389 rdfs:label Pulmonary vein varix Varixy plicních žil CANDIDATE en cs HP:0034390 IAO:0000115 Abnormally decreased levels of glycine in cerebrospinal fluid. Abnormálně snížené hladiny glycinu v mozkomíšním moku CANDIDATE en cs HP:0034390 rdfs:label Decreased CSF glycine concentration Snížená koncentrace glycinu v CSF CANDIDATE @@ -26977,7 +26977,7 @@ en cs HP:0040053 rdfs:label Long lower eyelashes Dlouhé spodní řasy OFFICIAL en cs HP:0040054 rdfs:label Short upper eyelashes Krátké horní řasy OFFICIAL en cs HP:0040055 rdfs:label Short lower eyelashes Krátké spodní řasy OFFICIAL en cs HP:0040056 rdfs:label Absent upper eyelashes Chybějící horní řasy OFFICIAL -en cs HP:0040057 rdfs:label Abnormality of nasal hair Abnormalita chloupků v nose OFFICIAL +en cs HP:0040057 rdfs:label Abnormal nasal hair morphology Abnormalita chloupků v nose CANDIDATE en cs HP:0040059 rdfs:label Calcification of ribs Kalcifikace žeber OFFICIAL en cs HP:0040061 rdfs:label Osteosclerosis of the radius Osteoskleróza vřetenní kosti OFFICIAL en cs HP:0040062 rdfs:label Slender radius Úzká vřetenní kost (radius) OFFICIAL @@ -27050,7 +27050,7 @@ en cs HP:0040127 IAO:0000115 An abnormality of the composition of sweat or the l en cs HP:0040127 rdfs:label Abnormal sweat homeostasis Abnormální homeostáza potu OFFICIAL en cs HP:0040128 rdfs:label Abnormal sweat electrolytes Abnormální elektrolyty v potu OFFICIAL en cs HP:0040129 rdfs:label Abnormal nerve conduction velocity Abnormální rychlost nervového vedení OFFICIAL -en cs HP:0040130 rdfs:label Abnormal serum iron concentration Abnormální koncentrace železa v séru OFFICIAL +en cs HP:0040130 rdfs:label Abnormal circulating iron concentration Abnormální koncentrace železa v séru CANDIDATE en cs HP:0040131 rdfs:label Abnormal motor nerve conduction velocity Abnormální rychlost vedení motorického nervu OFFICIAL en cs HP:0040132 rdfs:label Abnormal sensory nerve conduction velocity Abnormální rychlost vedení senzorických nervů OFFICIAL en cs HP:0040133 IAO:0000115 A deviation from the normal circulating concentration of ferritin. Ferritin concentration can be measured in serum or plasma. Odchylka od normální koncentrace cirkulujícího feritinu. Koncentrace feritinu může být stanovena v séru či plazmě. OFFICIAL @@ -27066,8 +27066,8 @@ en cs HP:0040139 IAO:0000115 Yellow nodules of lipoid material are deposited in en cs HP:0040139 rdfs:label Lipogranulomatosis Lipogranulomatóza OFFICIAL en cs HP:0040140 rdfs:label Degeneration of the striatum Degenerace striata OFFICIAL en cs HP:0040141 rdfs:label Tardive dyskinesia Tardivní dyskineze OFFICIAL -en cs HP:0040142 IAO:0000115 Decreased level of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate. Snížená aktivita reakce 5-oxo-L-prolin + ATP + 2 H(2)O = L-glutamát + ADP + 2 H(+) + fosfát OFFICIAL -en cs HP:0040142 rdfs:label Reduced 5-oxoprolinase level Snížená hladina 5-oxoprolinázy OFFICIAL +en cs HP:0040142 IAO:0000115 Activity or concentration of 5-oxoprolinase in the blood circulation below the lower limit of normal. This enzyme catalyzes the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate. Snížená aktivita reakce 5-oxo-L-prolin + ATP + 2 H(2)O = L-glutamát + ADP + 2 H(+) + fosfát CANDIDATE +en cs HP:0040142 rdfs:label Reduced circulating 5-oxoprolinase activity Snížená hladina 5-oxoprolinázy CANDIDATE en cs HP:0040143 IAO:0000115 Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process. With orthotopic os odontoideum, the ossicle moves with the anterior arch of the atlas, while the dystopic type consists of an ossicle near the basion, or one that is fused with the clivus Os odontoideum se anatomicky klasifikuje do dvou typů (ortotopická a dystopická). Os odeontoideum je difinovaná jako kůstka, která vzniká z hladké a koncové části processus odontoideus. V případě ortotopické os odontoideum se kůstka přesouvá s přední části nosiče (C1, atlas), zatímco v případě dystopického typu zůstává kůstka blízko předního okraje foramen magnum nebo je srostlá s bazi lební anteriorně od foramen magnum. OFFICIAL en cs HP:0040143 rdfs:label Dystopic os odontoideum Dystopická os odontoideum OFFICIAL en cs HP:0040144 IAO:0000115 An increase in the level of L-2-hydroxyglutaric acid in the urine. Zvýšení hladiny L-2-hydroxyglutarové kyseliny v moči OFFICIAL @@ -27077,7 +27077,7 @@ en cs HP:0040146 rdfs:label D-2-hydroxyglutaric acidemia D-2-hydroxyglutarová a en cs HP:0040147 rdfs:label L-2-hydroxyglutaric acidemia L-2-hydroxyglutarová acidémie OFFICIAL en cs HP:0040148 IAO:0000115 Cortical myoclonus mainly affects the distal upper limbs and face, which reflects the largest cortical representations of these body areas. It is often focal, but may be multifocal, bilateral or generalized, as a consequence of intracortical and transcallosal spreading of abnormal activity. It typically occurs on voluntary action and may affect speech and gait. Cortical myoclonic jerks are stimulus sensitive, typically to touch, but sensitivity to visual stimuli is also described. Most patients with cortical myoclonus have both positive myoclonus and NM, occurring either independently or together as a complex of the two kinds of myoclonus. If cortical myoclonus is prolonged and lasts for hours, days or weeks, it is called epilepsia partials continua and is considered to be a rare form of focal epileptic status. Focal cortical myoclonus almost always points to an underlining lesion of the sensori-motor cortex, which produces hyperexcitability (e.g. vascular, inflammatory or neoplastic). Kortikální myoklonus postihuje především distální horní končetiny a obličej, což odráží největší korové zastoupení těchto tělesných oblastí. Často je fokální, ale může být multifokální, bilaterální nebo generalizovaný, což je důsledek intrakortikálního a transkalózního šíření abnormální aktivity. Obvykle se vyskytuje při volní činnosti a může ovlivňovat řeč a chůzi. Kortikální myoklonické záškuby jsou citlivé na podněty, typicky na dotek, ale popisuje se i citlivost na zrakové podněty. Většina pacientů s kortikálním myoklonusem má jak pozitivní myoklonus, tak negativní myoklonus, které se vyskytují buď nezávisle, nebo společně jako komplex obou druhů myoklonusu. Pokud je kortikální myoklonus prolongovaný a trvá hodiny, dny nebo týdny, nazývá se epilepsia partials continua a považuje se za vzácnou formu fokálního epileptického statusu. Fokální kortikální myoklonus téměř vždy ukazuje na lézi senzomotorické kůry, která vyvolává hyperexcitabilitu (např. vaskulární, zánětlivou nebo neoplastickou). CANDIDATE en cs HP:0040148 rdfs:label Cortical myoclonus Kortikální myoklonus OFFICIAL -en cs HP:0040149 IAO:0000115 The presence of woolly hair on the scalp. The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. Přítomnost vlnitých vlasů na pokožce hlavy. Termín vlnité vlasy označuje abnormální variantu vlasů, které jsou jemné, s pevně stočenými kadeřemi a často hypopigmentované. Optická mikroskopie může odhalit přítomnost těsných spirál a zřetelné zmenšení průměru ve srovnání s normálními vlasy. Elektronová mikroskopie může ukázat ploché, oválné vlasové stvoly se zmenšeným příčným průměrem. CANDIDATE +en cs HP:0040149 IAO:0000115 The presence of wooly hair on the scalp. The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. Přítomnost vlnitých vlasů na pokožce hlavy. Termín vlnité vlasy označuje abnormální variantu vlasů, které jsou jemné, s pevně stočenými kadeřemi a často hypopigmentované. Optická mikroskopie může odhalit přítomnost těsných spirál a zřetelné zmenšení průměru ve srovnání s normálními vlasy. Elektronová mikroskopie může ukázat ploché, oválné vlasové stvoly se zmenšeným příčným průměrem. CANDIDATE en cs HP:0040149 rdfs:label Woolly scalp hair Vlnité vlasy skalpu OFFICIAL en cs HP:0040150 rdfs:label Epiblepharon of upper lid Epiblepharon horního víčka OFFICIAL en cs HP:0040151 rdfs:label Epiblepharon of lower lid Epiblepharon dolního víčka OFFICIAL @@ -27319,7 +27319,7 @@ en cs HP:0040301 IAO:0000115 An increased concentration of glycerol in the urine en cs HP:0040301 rdfs:label Increased urinary glycerol Zvýšený glycerol v moči OFFICIAL en cs HP:0040302 IAO:0000115 Increased concentration of glycerol in the blood. Zvýšená koncentrace glycerolu v krvi OFFICIAL en cs HP:0040302 rdfs:label Hyperglycerolemia Hyperglyrecolémie OFFICIAL -en cs HP:0040303 rdfs:label Decreased serum iron Snížené sérového železa OFFICIAL +en cs HP:0040303 rdfs:label Decreased circulating iron concentration Snížené sérového železa CANDIDATE en cs HP:0040304 rdfs:label Duplication of the sella turcica Zdvojení sella turcica OFFICIAL en cs HP:0040305 IAO:0000115 Increased desire for sexual activity on the part of a male. Zvýšená touha po sexuální aktivitě na straně muže OFFICIAL en cs HP:0040305 rdfs:label Increased male libido Zvýšené mužské libido OFFICIAL @@ -27819,7 +27819,7 @@ en cs HP:0100019 IAO:0000115 A cataract which affects the layer of the lens surr en cs HP:0100019 rdfs:label Cortical cataract Kortikální katarakta OFFICIAL en cs HP:0100020 IAO:0000115 A cataract which is found in the back outer layer of the lens. This type often develops more rapidly. Katarakta, která postihuje zadní část kapsuly čočky. Tento typ se často vyvíjí rychle OFFICIAL en cs HP:0100020 rdfs:label Posterior capsular cataract Zadní kapsulární katarakta OFFICIAL -en cs HP:0100021 IAO:0000115 Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems. Pojem mozková obrna označuje skupinu trvalých poruch vývoje motoriky a držení těla, které vede k omezení aktivity. Tyto poruchy jsou neprogresivní a jsou důsledkem inzultu poškozujícího vývoj mozku plodu nebo kojence. Motorické poruchy při mozkové obrně jsou často provázeny poruchami smyslů, percepce, kognice, komunikace, chování a epilepsií a sekundárními muskuloskeletálními problémy OFFICIAL +en cs HP:0100021 IAO:0000115 Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems. Pojem mozková obrna označuje skupinu trvalých poruch vývoje motoriky a držení těla, které vede k omezení aktivity. Tyto poruchy jsou neprogresivní a jsou důsledkem inzultu poškozujícího vývoj mozku plodu nebo kojence. Motorické poruchy při mozkové obrně jsou často provázeny poruchami smyslů, percepce, kognice, komunikace, chování a epilepsií a sekundárními muskuloskeletálními problémy CANDIDATE en cs HP:0100021 rdfs:label Cerebral palsy Mozková obrna OFFICIAL en cs HP:0100022 IAO:0000115 An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. Abnormalita pohybu s neurologickým základem charakterizovaná změnami koordinace a rychlosti cíleného pohybu OFFICIAL en cs HP:0100022 rdfs:label Abnormality of movement Abnormalita pohybu OFFICIAL @@ -28090,7 +28090,7 @@ en cs HP:0100238 IAO:0000115 An abnormal union between bones or parts of bones o en cs HP:0100238 rdfs:label Synostosis involving bones of the upper limbs Synostóza kostí horních končetin OFFICIAL en cs HP:0100240 IAO:0000115 The abnormal fusion of neighboring bones across a joint. Abnormální srůst sousedních kostí v kloubu OFFICIAL en cs HP:0100240 rdfs:label Synostosis of joints Synostóza kloubů OFFICIAL -en cs HP:0100241 IAO:0000115 Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations. Ektopický respirační epitel, který se projevuje jako povrchová kožní léze obvykle jednostranně lokalizovaná v kůži předloktí a spojená s ipsilaterálními malformacemi ruky OFFICIAL +en cs HP:0100241 IAO:0000115 Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localized unilateral in the skin of the forearm and associated with ipsilateral hand malformations. Ektopický respirační epitel, který se projevuje jako povrchová kožní léze obvykle jednostranně lokalizovaná v kůži předloktí a spojená s ipsilaterálními malformacemi ruky CANDIDATE en cs HP:0100241 rdfs:label Ectopic respiratory mucosa Ektopická sliznice dýchacích cest OFFICIAL en cs HP:0100242 IAO:0000115 A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant. Novotvar pojivové tkáně vzniklý proliferací mezodermálních buněk. Hlavními typy sarkomů jsou sarkomy kostí a měkkých tkání. Sarkom je obvykle vysoce maligní. OFFICIAL en cs HP:0100242 rdfs:label Sarcoma Sarkom OFFICIAL @@ -28149,7 +28149,7 @@ en cs HP:0100271 rdfs:label Hyponasal speech Hyponazální řeč OFFICIAL en cs HP:0100272 IAO:0000115 A congenital branchial sinus is a remnant of the embryonic branchial arches and their intervening clefts and pouches that has failed to regress completely. Sinuses typically have their external orifice inferior to the ramus of the mandible. They may traverse the parotid gland, and run in close vicinity to the facial nerve in the external auditory canal. Vrozený branchiální sinus je pozůstatkem embryonálních branchiálních oblouků a jejich štěrbin a výchlipek, které se chybou vývoje zcela nezanikly. Sinusy mají obvykle své vnější ústí uhlem pod spodní hranou dolní čelisti. Mohou procházet příušní žlázou a vést v těsné blízkosti obličejového nervu ve vnějším zvukovém kanálu OFFICIAL en cs HP:0100272 rdfs:label Branchial sinus Branchiální sinus OFFICIAL en cs HP:0100273 rdfs:label Neoplasm of the colon Novotvar tlustého střeva OFFICIAL -en cs HP:0100274 IAO:0000115 Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal. Gustatorní lakrimace vzniká kvůli aberantní inervaci vláken sedmého hlavového nervu do pterygopalatinního ganglion místo submandibulárního ganglion. Toto vede k nekontrolovanému slzení při jídle nebo při očekávání jídla. OFFICIAL +en cs HP:0100274 IAO:0000115 Gustatory lacrimation results from an aberrant innervation of fibers from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal. Gustatorní lakrimace vzniká kvůli aberantní inervaci vláken sedmého hlavového nervu do pterygopalatinního ganglion místo submandibulárního ganglion. Toto vede k nekontrolovanému slzení při jídle nebo při očekávání jídla. CANDIDATE en cs HP:0100274 rdfs:label Gustatory lacrimation Gustatorický pláč OFFICIAL en cs HP:0100275 IAO:0000115 Diffuse unlocalised atrophy affecting the cerebellum. Difúzní nelokalizovaná atrofie postihující mozeček OFFICIAL en cs HP:0100275 rdfs:label Diffuse cerebellar atrophy Difúzní mozečková atrofie OFFICIAL @@ -28232,7 +28232,7 @@ en cs HP:0100323 IAO:0000115 Juvenile aseptic necrosis comprises a group of orth en cs HP:0100323 rdfs:label Juvenile aseptic necrosis Juvenilní aseptická nekróza OFFICIAL en cs HP:0100324 IAO:0000115 A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin. Chronický autoimunitní jev charakterizovaný fibrózou (nebo zatuhnutím) a vaskulárními změnami kůže OFFICIAL en cs HP:0100324 rdfs:label Scleroderma Sklerodermie OFFICIAL -en cs HP:0100326 IAO:0000115 Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens. Imunologické stavy, kdy imunitní systém reaguje škodlivými reakcemi v případě opakované expozici senzibilizujícími antigeny OFFICIAL +en cs HP:0100326 IAO:0000115 Immunological states where the immune system produces harmful responses upon reexposure to sensitizing antigens. Imunologické stavy, kdy imunitní systém reaguje škodlivými reakcemi v případě opakované expozici senzibilizujícími antigeny CANDIDATE en cs HP:0100326 rdfs:label Immunologic hypersensitivity Imunologická přecitlivělost OFFICIAL en cs HP:0100327 IAO:0000115 Hypersensitivity in form of an adverse immune reaction against cow milk protein. Hypersenzitivita ve formě nepříznivé imunologické reakce proti bílkovině kravského mléka OFFICIAL en cs HP:0100327 rdfs:label Cow milk allergy Alergie na kravské mléko OFFICIAL @@ -28819,7 +28819,7 @@ en cs HP:0100682 IAO:0000115 A congenital absence or considerable underdevelopme en cs HP:0100682 rdfs:label Tracheal atresia Atrézie trachey OFFICIAL en cs HP:0100684 IAO:0000115 A tumor (abnormal growth of tissue) of a salivary gland. Tumor (abnormální růst tkáně) slinné žlázy OFFICIAL en cs HP:0100684 rdfs:label Salivary gland neoplasm Novotvar slinné žlázy OFFICIAL -en cs HP:0100685 IAO:0000115 An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone. Anomálie Sharpeyových vláken (kostních vláken nebo perforujících vláken), což je matrix pojivové tkáně tvořená svazky silných kolagenních vláken spojujících periost s kostí. OFFICIAL +en cs HP:0100685 IAO:0000115 An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibers connecting periosteum to bone. Anomálie Sharpeyových vláken (kostních vláken nebo perforujících vláken), což je matrix pojivové tkáně tvořená svazky silných kolagenních vláken spojujících periost s kostí. CANDIDATE en cs HP:0100685 rdfs:label Abnormal Sharpey fiber morphology Abnormální morfologie Sharpeyových vláken OFFICIAL en cs HP:0100686 rdfs:label Enthesitis Entezitida OFFICIAL en cs HP:0100687 IAO:0000115 The presence of an extra auricle on one or both sides of the head. Přítomnost dalšího ušního boltce na jedné nebo obou stranách hlavy OFFICIAL @@ -29050,7 +29050,7 @@ en cs HP:0100829 rdfs:label Galactorrhea Galaktorea OFFICIAL en cs HP:0100830 rdfs:label Round ear Kulaté ucho OFFICIAL en cs HP:0100831 IAO:0000115 Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade. Vitamin K je vitamin rozpustný v tucíh podporující koagulační kaskádu OFFICIAL en cs HP:0100831 rdfs:label Abnormality of vitamin K metabolism Abnormalita metabolismu vitaminu K OFFICIAL -en cs HP:0100832 IAO:0000115 Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent. Depozitá různé velikosti, tvaru, konzistence, refrakčního indexu a pohyblivosti v rámci očního sklivce, který je za normálních okolností průhledný. OFFICIAL +en cs HP:0100832 IAO:0000115 Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humor, which is normally transparent. Depozitá různé velikosti, tvaru, konzistence, refrakčního indexu a pohyblivosti v rámci očního sklivce, který je za normálních okolností průhledný. CANDIDATE en cs HP:0100832 rdfs:label Vitreous floaters Sklivcové zákaly OFFICIAL en cs HP:0100833 IAO:0000115 The presence of a neoplasm of the small intestine. Přítomnost novotvaru tenkého střeva OFFICIAL en cs HP:0100833 rdfs:label Neoplasm of the small intestine Novotvar tenkého střeva OFFICIAL @@ -29257,7 +29257,7 @@ en cs HP:0100960 IAO:0000115 Abnormal difference in size between the left and ri en cs HP:0100960 rdfs:label Lateral ventricular asymmetry Laterální ventrikulární asymetrie OFFICIAL en cs HP:0100961 IAO:0000115 Increase in size of the hippocampus. Zvětšení hippocampu OFFICIAL en cs HP:0100961 rdfs:label Enlarged hippocampus Zvětšený hipokampus OFFICIAL -en cs HP:0100962 rdfs:label Shyness Plachost OFFICIAL +en cs HP:0100962 rdfs:label Excessive shyness Plachost CANDIDATE en cs HP:0100963 IAO:0000115 Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain. Zvýšená citlivost na stimulaci, s výjimkou speciálních smyslů (hlavních smyslů)m To může odkazovat na různé způsoby kožní citlivosti včetně dotyku a tepelného vjemu bez bolesti a vněm bolesti jako takové. CANDIDATE en cs HP:0100963 rdfs:label Hyperesthesia Hyperestezie OFFICIAL en cs HP:0200000 IAO:0000115 Different levels of maturation of different bones. Různý stupeň zrání v různých kostech OFFICIAL @@ -29643,20 +29643,20 @@ en cs HP:0410190 IAO:0000115 A decrease in the level of glucose-6-phosphate dehy en cs HP:0410190 rdfs:label Decreased glucose-6-phosphate dehydrogenase level in leukocytes Snížená hladina glukóza-6-fosfátdehydrogenázy v leukocytech OFFICIAL en cs HP:0410191 IAO:0000115 An increase in the level of glucose-6-phosphate dehydrogenase in leukocytes. Zvýšení hladiny glukóza-6-fosfátdehydrogenázy v leukocytech OFFICIAL en cs HP:0410191 rdfs:label Increased glucose-6-phosphate dehydrogenase level in leukocytes Zvýšená hladina glukóza-6-fosfátdehydrogenázy v leukocytech OFFICIAL -en cs HP:0410192 IAO:0000115 An abnormality in uridine diphosphate glucose-4-epimerase level, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose. Abnormalita aktivity uridindifosfátglukóza-4-epimerázy, enzymu katalyzující reakci: UDP-glukóza = UDP-galaktóza CANDIDATE -en cs HP:0410192 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level Abnormální aktivita uridin difosfát glukóza-4-epimerázy CANDIDATE +en cs HP:0410192 IAO:0000115 An abnormality in uridine diphosphate glucose-4-epimerase level, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose Abnormalita aktivity uridindifosfátglukóza-4-epimerázy, enzymu katalyzující reakci: UDP-glukóza = UDP-galaktóza CANDIDATE +en cs HP:0410192 rdfs:label obsolete Abnormal uridine diphosphate glucose-4-epimerase level Abnormální aktivita uridin difosfát glukóza-4-epimerázy CANDIDATE en cs HP:0410193 IAO:0000115 An abnormality in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. Abnormalita aktivity uridindifosfát-glukóza-4-epimerázy v plazmě. Uridin difosfát glukóza-4-epimeráza katalyzuje reakci: UDP-glukóza = UDP-galaktóza CANDIDATE -en cs HP:0410193 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level in plasma Abnormální aktivita uridin difosfát glukóza-4-epimerázy v plazmě CANDIDATE +en cs HP:0410193 rdfs:label Abnormal circulating UDP glucose-4-epimerase concentration Abnormální aktivita uridin difosfát glukóza-4-epimerázy v plazmě CANDIDATE en cs HP:0410194 IAO:0000115 An increase in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. Zvýšení aktivity uridindifosfátglukóza-4-epimerázy v plazmě. Uridin difosfát glukóza-4-epimeráza katalyzuje reakci: UDP-glukóza = UDP-galaktóza CANDIDATE -en cs HP:0410194 rdfs:label Increased uridine diphosphate glucose-4-epimerase level in plasma Zvýšená aktivita uridindifosfátglukóza-4-epimerázy v plazmě CANDIDATE +en cs HP:0410194 rdfs:label Increased circulating UDP glucose-4-epimerase concentration Zvýšená aktivita uridindifosfátglukóza-4-epimerázy v plazmě CANDIDATE en cs HP:0410195 IAO:0000115 A decrease in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. Snížení aktivity uridindifosfátglukóza-4-epimerázy v plazmě. Uridin difosfát glukóza-4-epimeráza katalyzuje reakci: UDP-glukóza = UDP-galaktóza CANDIDATE -en cs HP:0410195 rdfs:label Decreased uridine diphosphate glucose-4-epimerase level in plasma Snížená aktivita uridindifosfátglukóza-4-epimerázy v plazmě CANDIDATE +en cs HP:0410195 rdfs:label Decreased circulating UDP glucose-4-epimerase concentration Snížená aktivita uridindifosfátglukóza-4-epimerázy v plazmě CANDIDATE en cs HP:0410196 IAO:0000115 An abnormality in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. Abnormalita v aktivitě uridindifosfátglukóza-4-epimerázy v červených krvinkách. Uridin difosfát glukóza-4-epimeráza katalyzuje reakci: UDP-glukóza = UDP-galaktóza CANDIDATE -en cs HP:0410196 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells Abnormální aktivita uridin difosfát glukóza-4-epimerázy v červených krvinkách CANDIDATE +en cs HP:0410196 rdfs:label Abnormal erythrocyte UDP glucose-4-epimerase concentration Abnormální aktivita uridin difosfát glukóza-4-epimerázy v červených krvinkách CANDIDATE en cs HP:0410197 IAO:0000115 An increase in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. Zvýšení aktivity uridindifosfátglukóza-4-epimerázy v červených krvinkách. Uridin difosfát glukóza-4-epimeráza katalyzuje reakci: UDP-glukóza = UDP-galaktóza CANDIDATE -en cs HP:0410197 rdfs:label Increased uridine diphosphate glucose-4-epimerase level in red blood cells Zvýšená aktivita uridindifosfátglukóza-4-epimerázy v červených krvinkách CANDIDATE +en cs HP:0410197 rdfs:label Increased erythrocyte UDP glucose-4-epimerase concentration Zvýšená aktivita uridindifosfátglukóza-4-epimerázy v červených krvinkách CANDIDATE en cs HP:0410198 IAO:0000115 A decrease in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. Snížení aktivity uridindifosfátglukóza-4-epimerázy v červených krvinkách. Uridin difosfát glukóza-4-epimeráza katalyzuje reakci: UDP-glukóza = UDP-galaktóza CANDIDATE -en cs HP:0410198 rdfs:label Decreased uridine diphosphate glucose-4-epimerase level in red blood cells Snížená aktivita uridindifosfátglukóza-4-epimerázy v červených krvinkách CANDIDATE +en cs HP:0410198 rdfs:label Decreased erythrocyte UDP glucose-4-epimerase concentration Snížená aktivita uridindifosfátglukóza-4-epimerázy v červených krvinkách CANDIDATE en cs HP:0410199 IAO:0000115 Increased concentration of urate in the cerebrospinal fluid. Zvýšená koncentrace urátu v likvoru OFFICIAL en cs HP:0410199 rdfs:label Increased CSF urate concentration Zvýšená koncentrace urátů v mozkomíšním moku OFFICIAL en cs HP:0410200 IAO:0000115 Detection of barbiturate metabolites such as phenobarbital in meconium. Detekce barbiturátových metabolitů jako například fenobarbital v mekoniu OFFICIAL @@ -30222,7 +30222,7 @@ en cs HP:0500066 IAO:0000115 The difference between total and manifest myopia. R en cs HP:0500066 rdfs:label Latent myopia Latentní myopie OFFICIAL en cs HP:0500069 IAO:0000115 A type of ectropion associated with orbicularis muscle weakness caused by cranial nerve VII palsy. Typ ektropia asociovaného se slabostí musculus orbicularis oculi způsobenou parézou VII hlavového nervu. OFFICIAL en cs HP:0500069 rdfs:label Paralytic ectropion Paralytické ektropium OFFICIAL -en cs HP:0500070 IAO:0000115 A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus. Léze konjunktivy tvořená tukovou tkání a hustou pojivovou tkání. Tento typ choristomu složeného z kožních elementů se normálně vyskytuje při vnějším kantu a má gelatinózní vzhled. Klasicky mívá nejasnou zadní hranici (léze často expanduje do orbity) a jasně ohraničenou přední část, několik milimetrů za limbem. OFFICIAL +en cs HP:0500070 IAO:0000115 A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimeters posterior to the limbus. Léze konjunktivy tvořená tukovou tkání a hustou pojivovou tkání. Tento typ choristomu složeného z kožních elementů se normálně vyskytuje při vnějším kantu a má gelatinózní vzhled. Klasicky mívá nejasnou zadní hranici (léze často expanduje do orbity) a jasně ohraničenou přední část, několik milimetrů za limbem. CANDIDATE en cs HP:0500070 rdfs:label Conjunctival dermolipoma Konjunktivální dermolipom OFFICIAL en cs HP:0500072 IAO:0000115 Eccentric fixation in which the angle of eccentricity equals the objective angle of deviation. Excentrická fixace, ve které se úhel excentricity rovná objektivnímu úhlu odchylky. OFFICIAL en cs HP:0500072 rdfs:label Absolute eccentric fixation Absolutní excentrická fixace OFFICIAL @@ -30242,7 +30242,7 @@ en cs HP:0500079 IAO:0000115 A type of vertical phoria in which, in dissociation en cs HP:0500079 rdfs:label Alternating hypophoria Alternující hypoforie OFFICIAL en cs HP:0500081 IAO:0000115 The term pseudophakia refers to having an artificial lens implanted after the natural eye lens has been removed. During cataract surgery the natural cloudy lens is replaced by an pseudophakia intraocular lens (IOL). Termín pseudofakie se týká implantace umělé čočky po odstranění přirozené oční čočky. Během operace šedého zákalu je přirozená zakalená čočka nahrazena pseudofakickou intraokulární čočkou (IOL). OFFICIAL en cs HP:0500081 rdfs:label Pseudophakia Pseudofakie OFFICIAL -en cs HP:0500086 IAO:0000115 Having a characteristic appearance of a slate gray area of pigmentation within the disc margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas. Charakteristický vzhled břidlicově šedé oblasti pigmentace v rámci okrajů disku, která se běžně objevuje podél inferotemporálního nebo temporálního neuroretinálního okraje. OFFICIAL +en cs HP:0500086 IAO:0000115 Having a characteristic appearance of a slate gray area of pigmentation within the disk margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas. Charakteristický vzhled břidlicově šedé oblasti pigmentace v rámci okrajů disku, která se běžně objevuje podél inferotemporálního nebo temporálního neuroretinálního okraje. CANDIDATE en cs HP:0500086 rdfs:label Optic nerve gray crescent Šedý půlměsíc zrakového nervu OFFICIAL en cs HP:0500087 IAO:0000115 Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve. Ztenčení vrstev sítnice a sítnicového pigmentového epitelu v okolí zrakového nervu. OFFICIAL en cs HP:0500087 rdfs:label Peripapillary atrophy Peripapilární atrofie OFFICIAL @@ -30252,7 +30252,7 @@ en cs HP:0500089 IAO:0000115 A benign tumor of meningothelial cells of the menin en cs HP:0500089 rdfs:label Optic nerve sheath meningioma Meningeom pochvy zrakového nervu OFFICIAL en cs HP:0500090 IAO:0000115 A capillary hemangioma surrounding the eyeball but within the orbit. Kapilární hemangiom obklopující oční bulvu, ale nepřesahující očnici OFFICIAL en cs HP:0500090 rdfs:label Periocular capillary hemangioma Periokulární kapilární hemangiom OFFICIAL -en cs HP:0500091 IAO:0000115 A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva manoeuvre. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to haemorrhage. Hamartom lymfatických cest obvykle se vyskytující v dětství. Mívá tendenci zvěšit se při poloze s hlavou dolů a s Valsalvovým manévrem. Povrchové léze vypadají jako prosvítitelné cystické prostory víčka nebo spojivky a můžou obsahovat krev. Hluboké léze můžou způsobovat graduální proptózu či prezentovat se jako akutní orbitální bolest a omezení vidění z důvodu krvácení. OFFICIAL +en cs HP:0500091 IAO:0000115 A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva maneuver. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to hemorrhage. Hamartom lymfatických cest obvykle se vyskytující v dětství. Mívá tendenci zvěšit se při poloze s hlavou dolů a s Valsalvovým manévrem. Povrchové léze vypadají jako prosvítitelné cystické prostory víčka nebo spojivky a můžou obsahovat krev. Hluboké léze můžou způsobovat graduální proptózu či prezentovat se jako akutní orbitální bolest a omezení vidění z důvodu krvácení. CANDIDATE en cs HP:0500091 rdfs:label Lymphangioma of the orbit Lymfangiom očnice OFFICIAL en cs HP:0500092 IAO:0000115 A mesenchymal tumor that is considered to be the commonest primary orbital malignancy in children. Histologically, it may be differentiated into embryonal, alveolar, and pleomorphic types. It is usually intraconal or within the superior orbit. Mezenchymální nádor, který je považován za nejčastější primární malignitu orbity u dětí. Histologicky lze rozlišit na typy embryonální, alveolární a pleomorfní. Obvykle se nachází intrakonálně nebo v horní části orbity CANDIDATE en cs HP:0500092 rdfs:label Orbital rhabdomyosarcoma Orbitální rhabdomyosarkom OFFICIAL @@ -30570,8 +30570,8 @@ en cs HP:3000002 IAO:0000115 Any structural anomaly of an inner ear epithelium. en cs HP:3000002 rdfs:label Abnormal inner ear epithelium morphology Abnormální morfologie epitelu vnitřního ucha OFFICIAL en cs HP:3000003 IAO:0000115 An abnormality of a mandibular ramus. Abnormalita ramus mandibulae OFFICIAL en cs HP:3000003 rdfs:label Abnormal mandibular ramus morphology Abnormální morfologie ramus mandibulae OFFICIAL -en cs HP:3000004 IAO:0000115 An abnormality of a frontalis muscle belly. Abnormalita předního bříška musculus occipitofrontalis zvaného musculus frontalis. OFFICIAL -en cs HP:3000004 rdfs:label Abnormality of frontalis muscle belly Abnormalita musculus frontalis OFFICIAL +en cs HP:3000004 IAO:0000115 Abnormal function of the frontalis muscle, which covers parts of the forehead and is responsible for raising the eyebrows. Abnormalita předního bříška musculus occipitofrontalis zvaného musculus frontalis. CANDIDATE +en cs HP:3000004 rdfs:label Abnormal frontalis muscle physiology Abnormalita musculus frontalis CANDIDATE en cs HP:3000005 IAO:0000115 An abnormality of a masseter muscle. Abnormalita žvýkacího svalu. OFFICIAL en cs HP:3000005 rdfs:label Abnormality of masseter muscle Abnormalita musculus masseter OFFICIAL en cs HP:3000006 IAO:0000115 An abnormality of a medial pterygoid muscle. Abnormální musculus pterygoideus medialis OFFICIAL @@ -30732,7 +30732,7 @@ en cs HP:4000006 IAO:0000115 Increased duration of myocardial T1 time without ga en cs HP:4000006 rdfs:label Elevated myocardial native T1 Zvýšení nativního T1 relaxačního času myokardu CANDIDATE en cs HP:4000007 IAO:0000115 Tightening of smooth muscle surrounding the bronchi and bronchioles with consequent wheezing and shortness of breath. Stažení hladkého svalstva kolem bronchů a bronchiolů s následným sípáním a dušností. CANDIDATE en cs HP:4000007 rdfs:label Bronchoconstriction Bronchokonstrikce CANDIDATE -en cs HP:4000008 IAO:0000115 Pronuclei formation is a critical process during fertilisation. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilisation. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilisation with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI. Tvorba prvojader je kritickým procesem během oplodnění. Normálně jsou v zygotě po oplodnění dvě prvojádra (2PN), tedy otcovské a mateřské. Obecně se uznává, že tvorba mnohočetných prvojader (MPN) je způsobena abnormální extruzí druhého polárního tělíska nebo abnormálním oplodněním více spermiemi. MPN proto může způsobit neplodnost a opakované selhání IVF/ICSI CANDIDATE +en cs HP:4000008 IAO:0000115 Pronuclei formation is a critical process during fertilization. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilization. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilization with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI. Tvorba prvojader je kritickým procesem během oplodnění. Normálně jsou v zygotě po oplodnění dvě prvojádra (2PN), tedy otcovské a mateřské. Obecně se uznává, že tvorba mnohočetných prvojader (MPN) je způsobena abnormální extruzí druhého polárního tělíska nebo abnormálním oplodněním více spermiemi. MPN proto může způsobit neplodnost a opakované selhání IVF/ICSI CANDIDATE en cs HP:4000008 rdfs:label Formation of multiple pronuclei during fertilization Tvorba mnohočetných prvojader při oplození CANDIDATE en cs HP:4000009 IAO:0000115 An excessive, irrational, and debilitating fear of carrying out a physical movement due to a feeling of vulnerability to painful injury or reinjury. Nadměrný, iracionální a debilitující strach provést fyzický pohyb kvůli pocitu zranitelnosti vůči bolestivému insultu nebo opětovnému zranění. CANDIDATE en cs HP:4000009 rdfs:label Kinesiophobia Kineziofobie CANDIDATE @@ -30770,7 +30770,7 @@ en cs HP:4000025 rdfs:label Anti-integrin antibody positivity Pozitivita anti-in en cs HP:4000026 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transglutaminase 6. Přítomnost autoprotilátek (imunoglobulinů) v krevním oběhu, které reagují proti transglutamináze 6. CANDIDATE en cs HP:4000026 rdfs:label Anti-transglutaminase 6 antibody Protilátky proti transglutamináze 6 CANDIDATE en cs HP:4000027 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against LAD-1, which is the soluble 120 kDa ectodomain of BP180. Přítomnost autoprotilátek (imunoglobulinů) v séru, které reagují proti LAD-1, což je rozpustná ektodoména BP180 o molekulární hmotnosti 120 kDa. CANDIDATE -en cs HP:4000027 rdfs:label anti-LAD-1 antibody positivity Pozitivita anti-LAD-1 protilátek CANDIDATE +en cs HP:4000027 rdfs:label Anti-LAD-1 antibody positivity Pozitivita anti-LAD-1 protilátek CANDIDATE en cs HP:4000028 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against LABD97, which is structurally identical to a portion of the extracellular domain of BPAg2. BPAg2, a 180 kDa bullous pemphigoid antigen, is a transmembrane protein important for basement membrane cohesion. Přítomnost autoprotilátek (imunoglobulinů) v séru, které reagují proti LABD97, která je strukturně identická s částí extracelulární domény BPAg2. BPAg2, antigen bulózního pemfigoidu o molekulární hmotnosti 180 kDa, je transmembránový protein důležitý pro kohezi bazální membrány. CANDIDATE en cs HP:4000028 rdfs:label Anti-LABD97 antibody positivity Pozitivita anti-LABD97 protilátek CANDIDATE en cs HP:4000029 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against gliadin. Přítomnost autoprotilátek (imunoglobulinů) v séru, které reagují proti gliadinu. CANDIDATE @@ -30827,7 +30827,7 @@ en cs HP:4000054 IAO:0000115 A widespread rash. Rozšířená vyrážka CANDIDAT en cs HP:4000054 rdfs:label Exanthem Exantém CANDIDATE en cs HP:4000055 IAO:0000115 A reaction characterizeds by capillary dilatation, leukocytic infiltration, redness, heat, pain, swelling localized to the in the intestinal tract. Reakce charakterizovaná dilatací kapilár, leukocytární infiltrací, zarudnutím, teplem, bolestí a otokem lokalizovaným ve střevním traktu. CANDIDATE en cs HP:4000055 rdfs:label Intestinal inflammation Zánět střev CANDIDATE -en cs HP:4000056 IAO:0000115 Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterised by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighbouring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response. Jakákoli abnormalita programované buněčné smrti (apoptózy), která je definována jako organizovaný zánik buňky charakterizovaný blebbingem membrány (vznikem nepravidelných záhybů), smršťováním buňky, kondenzací chromatinu a fragmentací DNA, po níž následuje rychlé pohlcení zbylého materiálu sousedními buňkami. Apoptóza se od smrti nekrózou liší absencí související zánětlivé reakce. CANDIDATE +en cs HP:4000056 IAO:0000115 Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterized by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighboring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response. Jakákoli abnormalita programované buněčné smrti (apoptózy), která je definována jako organizovaný zánik buňky charakterizovaný blebbingem membrány (vznikem nepravidelných záhybů), smršťováním buňky, kondenzací chromatinu a fragmentací DNA, po níž následuje rychlé pohlcení zbylého materiálu sousedními buňkami. Apoptóza se od smrti nekrózou liší absencí související zánětlivé reakce. CANDIDATE en cs HP:4000056 rdfs:label Abnormal apoptosis Abnormální apoptóza CANDIDATE en cs HP:4000057 IAO:0000115 A reduced amount of programmed cell death upon stimulation of the FAS receptor, which normally induces caspase-8 dependent apoptosis. Snížený počet programované buněčné smrti při stimulaci receptoru FAS, který normálně indukuje apoptózu závislou na kaspáze-8. CANDIDATE en cs HP:4000057 rdfs:label Decreased FasL-mediated apoptosis Snížení FasL zprostředkované apoptózy CANDIDATE @@ -30876,7 +30876,7 @@ en cs HP:4000083 IAO:0000115 Lack of interest in peers of comparable age and soc en cs HP:4000083 rdfs:label Lack of interest in peers Absence zájmu o vrstevníky CANDIDATE en cs HP:4000084 IAO:0000115 An absence or abnormally low frequency of engaging with others to share personal interests or topics. Interest sharing includes offers of information about oneself as a form of social interaction. Snížení sdílení zájmů s ostatníma. CANDIDATE en cs HP:4000084 rdfs:label Reduced sharing of interests Omezené sdílení zájmů CANDIDATE -en cs HP:4000085 IAO:0000115 An absence or reduction in object sharing. Object sharing is an early emerging social skill in which a child will share objects such as toys, balls, or books with parents or peers during object play. Object sharing typically develops within the first two years of life. Absence nebo omezení sdílení objektů. Sdílení objektů je raně se objevující sociální dovednost, ve které chce dítě sdílet předměty s rodiči nebo vrstevníky během hry s předměty. Sdílení objektů se obvykle rozvíjí během prvních dvou let života. CANDIDATE +en cs HP:4000085 IAO:0000115 An absence or reduction in object sharing. Object sharing is an early emerging social skill in which a child will share objects such as toys, balls, or books with parents or peers during object play. Absence nebo omezení sdílení objektů. Sdílení objektů je raně se objevující sociální dovednost, ve které chce dítě sdílet předměty s rodiči nebo vrstevníky během hry s předměty. Sdílení objektů se obvykle rozvíjí během prvních dvou let života. CANDIDATE en cs HP:4000085 rdfs:label Reduced object sharing Omezené sdílení objektů CANDIDATE en cs HP:4000087 IAO:0000115 Abnormal expressions (movements or position of muscles of the face that convey the emotional state of an individual to observers during social interactions) comprising abnormalities of quantity, range, context-appropriateness, and quality. Abnormální výraza obličeje (pohyby nebo pozice svalů obličeje, které pozorovatelům zprostředkovávají emoční stav jedince) zahrnující abnormality kvantity, rozsahu, vhodnosti kontextu a kvality. CANDIDATE en cs HP:4000087 rdfs:label Abnormal communicative facial expressions Abnormální používání mimiky CANDIDATE @@ -30886,7 +30886,7 @@ en cs HP:4000089 IAO:0000115 Spontaneous production of communicative facial expr en cs HP:4000089 rdfs:label Abnormal quality of facial expression Atypický výraz obličeje CANDIDATE en cs HP:4000090 IAO:0000115 Abnormality in the use of gestures defined as hand, shoulder, and head movements that convey a shared meaning within a culture that replace or supplement verbal communication. Abnormality v používání gest definovaných jako pohyby rukou, ramen a hlavy, které vyjadřují sdílený význam v rámci kultury, a nahrazují nebo doplňují verbální komunikaci. CANDIDATE en cs HP:4000090 rdfs:label Abnormal gesture use Abnormální užívání gest CANDIDATE -en cs HP:4000092 IAO:0000115 Reduced ability to conduct a reciprocal (back and forth) conversation, as expected for language level. Snížená schopnost vést vzájemnou konverzaci (tam a zpět) charakterizovaná nedostatky ve schopnosti komentovat témata diskuse ostatních, neumět klást otázky a nestavět konverzaci na komentářích ostatních. Postižené osoby nemusí vědět, co mají v rozhovoru říct dál, nemusí si všimnout, zda se ostatní daným tématem nudí, mohou vést jednostrannou konverzaci (mluvit, ale neposlouchat) nebo mohou odbíhat od tématu více, než je společensky přijatelné. CANDIDATE +en cs HP:4000092 IAO:0000115 Reduced use of reciprocal (back and forth) conversation, as compared to what would be expected for language level. Snížená schopnost vést vzájemnou konverzaci (tam a zpět) charakterizovaná nedostatky ve schopnosti komentovat témata diskuse ostatních, neumět klást otázky a nestavět konverzaci na komentářích ostatních. Postižené osoby nemusí vědět, co mají v rozhovoru říct dál, nemusí si všimnout, zda se ostatní daným tématem nudí, mohou vést jednostrannou konverzaci (mluvit, ale neposlouchat) nebo mohou odbíhat od tématu více, než je společensky přijatelné. CANDIDATE en cs HP:4000092 rdfs:label Poor conversational reciprocity Špatná reciprtocita při konverzaci CANDIDATE en cs HP:4000093 IAO:0000115 A condition in which the permanent teeth, because of deficiency of growth in the jaw or segment of jaw, assume a path of eruption that intercepts a primary tooth, causes its premature loss and produces a consequent malposition of the permanent tooth. Stav, kdy stálé zuby v důsledku nedostatečného růstu v čelisti nebo segmentu čelisti zaujmou dráhu erupce, která se kříží primárním zubem, způsobí jeho předčasnou ztrátu a způsobí následné špatné postavení stálého zubu. CANDIDATE en cs HP:4000093 rdfs:label Ectopic tooth eruption Ektopická erupce zubu CANDIDATE diff --git a/src/translations/hp-cs.babelon.owl b/src/translations/hp-cs.babelon.owl index c3505a44f..b217fdee9 100644 --- a/src/translations/hp-cs.babelon.owl +++ b/src/translations/hp-cs.babelon.owl @@ -11,8 +11,8 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:babelon="https://w3id.org/babelon/"> - - 2024-03-06 + + 2024-04-03 @@ -6884,9 +6884,9 @@ Abnormalita choan en - Abnormality of the choanae + Abnormal choanae morphology cs - OFFICIAL + CANDIDATE Štíhlý nos @@ -8907,9 +8907,9 @@ Bledě žludá diskolorace optického disku (místo, kde nervus opticus vstupuje do retiny). Standartní je růžovkasté zbarvení s cetrální žlutkastou depresí en - A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. + A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. cs - OFFICIAL + CANDIDATE @@ -10959,9 +10959,9 @@ Okulomotorická apraxie je porucha dobrovolných a cílených pohybů očí v horizontální rovině a porucha vůlí iniciovaných sakád. Zachované jsou hladké sledovací pohyby očí. Neschopnost pohybu okem se kompenzuje pohybem hlavy. Porušeny ale můžou být i hladké sledovací pohyby a vestibulo-okulární reflex en - Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex. + Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex. cs - OFFICIAL + CANDIDATE @@ -11357,9 +11357,9 @@ Šedá diskolorace zubní skloviny en - A grey discoloration of the dental enamel. + A gray discoloration of the dental enamel. cs - OFFICIAL + CANDIDATE @@ -12142,9 +12142,9 @@ Motorická stereotypie en - Abnormal repetitive mannerisms + Motor stereotypy cs - CANDIDATE + OFFICIAL Nedostatečná zdrženlivost, projevuje se několika způsoby, včetně ignorování sociálních konvencí, impulzivity a špatného hodnocení rizik @@ -19955,7 +19955,7 @@ Křeče (epileptické křeče, epileptický záchvat) jsou přechodnou abnormalitou centrální nervové soustavy způsobenou anormálními výboji mozkových neuronů klinicky charakterizovanou kombinacemi poruch čití, ztráty vědomí, postižení psychických funkcí či křečovitých pohybů. Termín epilepsie se používá k popisu chronických, rekurentních záchvatů en - A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. + A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. cs CANDIDATE @@ -28966,9 +28966,9 @@ Zvýšený hemoglobín en - Increased hemoglobin + Increased circulating hemoglobin concentration cs - OFFICIAL + CANDIDATE Polycytemie je diagnostikována, pokud počet červených krvinek, hladina hemoglobinu a objem červených krvinek překračují horní hranici normy @@ -32635,9 +32635,9 @@ Záchvaty typu absence se projevují náhlým zastavením aktivity a vědomí. Absence se obvykle vyskytují v mladších věkových skupinách, mají náhlejší začátek a konec a obvykle se u nich projevují méně komplexní automatizmy než u fokálních záchvatů s poruchou vědomí, ale toto rozlišení není absolutní. en - A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. + A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. cs - OFFICIAL + CANDIDATE @@ -32657,9 +32657,9 @@ Generalizovaný myoklonický záchvat je typ generalizovaného motorického záchvatu charakterizovaného bilaterální, náhlou, krátkou (100 ms) mimovolní kontrakcí jednoho nebo více svalů nebo svalových skupin s různou topografií (axiální, proximální končetiny, distální). Myoklonus je méně pravidelně se opakující a méně trvalý než klonus. en - A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. + A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. cs - OFFICIAL + CANDIDATE @@ -34285,7 +34285,7 @@ Termín vlnité vlasy označuje abnormální variantu vlasů, které jsou jemné, s pevně stočenými kadeřemi a často hypopigmentované. Optická mikroskopie může odhalit přítomnost těsných spirál a zřetelné zmenšení průměru ve srovnání s normálními vlasy. Elektronová mikroskopie může ukázat ploché, oválné vlasové stvoly se zmenšeným příčným průměrem. en - The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. + The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. cs CANDIDATE @@ -37407,9 +37407,9 @@ Primitivní reflexy jsou skupinou behaviorálních motorických reakcí, které se vyskytují v normálním raném vývoji, následně jsou inhibovány, ale mohou být uvolněny z inhibice při poškození mozku, obvykle frontálním. Jsou tedy součástí širší skupiny reflexů, které odrážejí uvolňovací jevy, jako jsou přehnané natahovací reflexy a extenzorové plantární reflexy. Zahrnují však složitější motorické reakce než tyto jednoduché protahovací reflexy a jsou často normálním rysem u novorozenců nebo kojenců. en - The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant. + The primitive reflexes are a group of behavioral motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant. cs - OFFICIAL + CANDIDATE @@ -41451,7 +41451,7 @@ Rozštěp rtu a rozštěp patra postihující obě strany obličeje en - Cleft lip and cleft palate affecting both sides of the face. + Cleft lip and cleft palate affecting both sides of the face cs OFFICIAL @@ -41460,9 +41460,9 @@ Rozštěp tvrdého patra s oboustranným rozštěpem rtu en - Bilateral cleft lip and palate + obsolete Bilateral cleft lip and palate cs - OFFICIAL + CANDIDATE Ztluštělá bílá skvrna na sliznici dutiny ústní, kterou nelze setřít @@ -48267,9 +48267,9 @@ Typ chromozomové aberace charakterizovaný sníženou odolností chromozomů k poškození en - A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration. + A type of chromosomal aberration characterized by reduced resistance of chromosomes to change or deterioration. cs - OFFICIAL + CANDIDATE @@ -51512,9 +51512,9 @@ Zvýšené sérové železo en - Increased serum iron + Increased circulating iron concentration cs - OFFICIAL + CANDIDATE Přítomnost autoprotilátek v séru, které reagují proti neutrofilům @@ -53583,18 +53583,18 @@ Abnormální snížení hladiny 4-hydroxyfenylpyruvátdioxygenázy en - An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase level. + Activity or concentration of 4-hydroxyphenylpyruvate dioxygenase in the blood circulation below the lower limit of normal. cs - OFFICIAL + CANDIDATE Snížená hladina 4-hydroxyfenylpyruvátdioxygenázy en - Reduced 4-Hydroxyphenylpyruvate dioxygenase level + Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity cs - OFFICIAL + CANDIDATE Zvýšená koncentrace adrenalinu v moči @@ -60991,9 +60991,9 @@ Abnormalita předního segmentu oční koule (který zahrnuje struktury před sklivcem: rohovku, duhovku, řasnaté tělísko a čočku). en - An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens). + An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humor: the cornea, iris, ciliary body, and lens). cs - OFFICIAL + CANDIDATE @@ -62265,9 +62265,9 @@ Termín peptický vřed označuje kyselé peptické poškození trávicího traktu, které vede k porušení sliznice až do podkoží. Peptické vředy se obvykle nacházejí v žaludku nebo proximálním duodenu, ale mohou se vyskytovat i v jícnu nebo Meckelově divertiklu. Infekce Helicobacter pylori a užívání nesteroidních protizánětlivých léků (NSAID) nebo aspirinu jsou hlavními rizikovými faktory vzniku žaludečních i dvanáctníkových vředů. en - The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the oesophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers. + The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the esophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers. cs - OFFICIAL + CANDIDATE @@ -62818,9 +62818,9 @@ Nedostatek komplementu en - Complement deficiency + Reduced circulating complement concentration cs - OFFICIAL + CANDIDATE Absence nebo extrémně nízká hladina IgA, IgM a IgM v oběhu @@ -67029,7 +67029,7 @@ Typ anémie, která se projevuje abnormálně velkými erytrocyty s abnormálně vysokým množstvím hemoglobinu. en - A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin. + A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of hemoglobin. cs CANDIDATE @@ -69753,9 +69753,9 @@ Jakákoliv abnormalita krycích ploch obratlů, které jsou na vrchní a spodní části těla obratle, které naléhají na meziobratlové ploténky en - Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs. + Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral disks. cs - OFFICIAL + CANDIDATE @@ -72204,9 +72204,9 @@ Abnormalita nazolabiální oblasti en - Abnormality of the nasolabial region + Abnormal nasolabial region morphology cs - OFFICIAL + CANDIDATE Hypoplázie arteria carotis interna @@ -83476,9 +83476,9 @@ Široké metafýzy femuru en - Broad femoral metaphyses + Wide femoral metaphysis cs - OFFICIAL + CANDIDATE Přítomnost asymetrické vývojové dysplazie radia @@ -83588,9 +83588,9 @@ Abnormalita proximální femorální metafýzy en - Proximal femoral metaphyseal abnormality + Abnormal proximal femoral metaphysis morphology cs - OFFICIAL + CANDIDATE Lichoběžníkové distální kondyly femuru @@ -91811,9 +91811,9 @@ Atypický záchvat absence je typ generalizovaného nemotorického záchvatu (absence), který se vyznačuje přerušením probíhajících činností a sníženou reaktivitou. Ve srovnání s typickým záchvatem absence mohou být změny tonu výraznější, nástup a/nebo ukončení záchvatu mohou být méně náhlé a doba trvání iktu a zotavení po záchvatu může být delší. Ačkoli není vždy k dispozici, EEG často prokazuje pomalou (<3 Hz), nepravidelnou, generalizovanou aktivitu s hroty a vlnami. en - An atypical absence seizure is a type of generalised non-motor (absence) seizure characterised by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity. + An atypical absence seizure is a type of generalized non-motor (absence) seizure characterized by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity. cs - OFFICIAL + CANDIDATE @@ -93253,9 +93253,9 @@ Naevus flammeus lokalizovaný na kůži čela en - Naevus flammeus localised in the skin of the forehead. + Naevus flammeus localized in the skin of the forehead. cs - OFFICIAL + CANDIDATE @@ -95391,9 +95391,9 @@ Naevus flammeus lokalizovaný na kůži na krku. Jedná se o jedno z nejčastějších mateřských znamének, které se vyskytuje přibližně u 25 % všech novorozenců. en - Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns. + Naevus flammeus localized in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns. cs - OFFICIAL + CANDIDATE @@ -95561,9 +95561,9 @@ Akutní stav charakterizovaný náhlou ztrátou zraku (obvykle zjištěnou ráno), edémem optického disku na počátku, defekty zorného pole souvisejícími s optickým diskem. Nearteritická přední ischemická optická neuropatie může být spojena s plamenkovitými krváceními na oteklém disku nebo blízké neuroretinální vrstvě a někdy s blízkými vatovitými exsudáty. en - An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates. + An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disk or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates. cs - OFFICIAL + CANDIDATE @@ -96861,9 +96861,9 @@ Oční abnormalita charakterizovaná předčasnou degenerací sklivce a sítnice, která může být spojena se zvýšeným rizikem odchlípení sítnice. en - Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. + Ocular abnormality characterized by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. cs - OFFICIAL + CANDIDATE @@ -98003,9 +98003,9 @@ Snížená pigmentace očního fundu, typicky generalizovaná. Pomocí fundoskopie můžeme odhalit nízkou hladinu pigmentu v oblasti RPE a cévnatku s dobre viditelnými choroidálními cévami (bledé/albinoidní) nebo nízkou hladinu pigmentu v oblasti RPE s hlubokým pigmentem v cévnatce, takže viditelné choroidální cévy jsou odděleny hluboce pigmentovanými zónami (teselované/tigroidní ). en - Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid). + Reduced pigmentation of the fundus, typically generalized. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid). cs - OFFICIAL + CANDIDATE @@ -98697,9 +98697,9 @@ Perzistence hyaloidní tepny, což je embryonální tepna, která vede od disku zrakového nervu k zadnímu pouzdru čočky; místo úponu může tvořit zákal. Hyaloidní tepna je větví oftalmické tepny a obvykle zcela regreduje před narozením. Tato vlastnost je důsledkem selhání regrese hyaloidní cévy, která zásobuje primární sklivec během embryogeneze a normálně regreduje ve třetím trimestru těhotenství, což vede ke zvláštní formě zadní katarakty. en - Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract. + Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract. cs - OFFICIAL + CANDIDATE @@ -103648,9 +103648,9 @@ Degenerace meziobratlové ploténky en - Intervertebral disc degeneration + Intervertebral disk degeneration cs - OFFICIAL + CANDIDATE Přítomnost bodových kalcifikací kosti obratlových těl @@ -104756,9 +104756,9 @@ Chybění trvalého chrupu en - No permanent dentition + obsolete No permanent dentition cs - OFFICIAL + CANDIDATE Těžká forma hypermetropie s více než +5,00 dioptrií. @@ -104791,7 +104791,7 @@ Rozštěp rtu a patra postihující středovou oblast patra en - Cleft lip or palate affecting the midline region of the palate. + Cleft lip or palate affecting the midline region of the palate cs OFFICIAL @@ -104800,9 +104800,9 @@ Středový rozštěpený rtu a patra en - Median cleft lip and palate + obsolete Median cleft lip and palate cs - OFFICIAL + CANDIDATE Přítomnost středně těžké formy senzorineurální poruchy sluchu @@ -105781,18 +105781,18 @@ Abnormální zvětšení močového měchýře. en - Abnormal enlargement of the urinary bladder. + Increase in thickness of the wall of the urinary bladder. This finding may be seen in conditions such as bladder outlet obstruction and may be accompanied by increased trabeculation of the bladder wall musculature. cs - OFFICIAL + CANDIDATE Hypertrofie močového měchýře en - Hypertrophy of the urinary bladder + Urinary bladder wall hypertrophy cs - OFFICIAL + CANDIDATE Lobulární glomerulopatie @@ -119467,7 +119467,7 @@ Menší počet neurofibromů než je obvyklé u neurofibromatózy typu 1 en - Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1. + Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1 cs OFFICIAL @@ -119476,9 +119476,9 @@ Náhodné neurofibromy (mimo neurofibromatózu) en - Occasional neurofibromas + obsolete Occasional neurofibromas cs - OFFICIAL + CANDIDATE Chybění proximální falangy 2. prstu na ruce @@ -121961,9 +121961,9 @@ Oblasti sítnice bez pigmentace. Vypíchnuté oblasti chorioretinální hypopigmentace o velikosti menší než 1 průměr disku, které se nacházejí spíše ve střední části sítnice. en - Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina. + Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disk diameter in size and tending to be located in the midperiphery of the retina. cs - OFFICIAL + CANDIDATE @@ -125425,18 +125425,18 @@ Může přetrvávat hyaloidní tepna, což je embryonální tepna, která vede od disku zrakového nervu k zadnímu pouzdru čočky; místo úponu může tvořit zákal. Hyaloidní tepna je větví oftalmické tepny a obvykle zcela regreduje před narozením. en - Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. + Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. cs - OFFICIAL + CANDIDATE Cévní zbytek vycházející z disku en - Vascular remnant arising from the disc + Vascular remnant arising from the disk cs - OFFICIAL + CANDIDATE Hypoplázie nebo chybění nosu nebo jeho části @@ -130895,9 +130895,9 @@ Normální epifýza třetí metakarpální kosti je umístněná jejim distálním konci. Tento termín se použije v případě přítomnosti akcesorní epifýzy, která je umístněná na proximálním konci matakarpální kosti en - The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. + The normal epiphysis of the third metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. cs - OFFICIAL + CANDIDATE @@ -130939,9 +130939,9 @@ Normální epifýza čtvrté metakarpální kosti je umístněná jejim distálním konci. Tento termín se použije v případě přítomnosti akcesorní epifýzy, která je umístněná na proximálním konci matakarpální kosti en - The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. + The normal epiphysis of the fourth metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. cs - OFFICIAL + CANDIDATE @@ -130983,9 +130983,9 @@ Normální epifýza páté metakarpální kosti je umístněná jejim distálním konci. Tento termín se použije v případě přítomnosti akcesorní epifýzy, která je umístněná na proximálním konci matakarpální kosti en - The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. + The normal epiphysis of the fifth metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. cs - OFFICIAL + CANDIDATE @@ -137526,9 +137526,9 @@ Trojúhleníkové epifýzy en - Triangular epiphyses + Triangular epiphysis cs - OFFICIAL + CANDIDATE Zástava růstu v místě epifyzární (růstové) ploténky, což je ploténka hyalinní chrupavky v metafýze na obou končích dlouhých kostí a to v dřívějším věku, než je obvyklé a v důsledu toho postižená kost přestane růst a je zkrácená. @@ -137827,9 +137827,9 @@ Bengní, jedno či vícecystický intraoseální tumor odontogenního původu, s charakteristickým lemem parakeratinizovaného dlaždicového epitelu a s potenciálem k agresivnímu, infiltrativnímu růstu. en - A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour. + A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behavior. cs - OFFICIAL + CANDIDATE @@ -138564,9 +138564,9 @@ Abnormalita nosní dutiny en - Abnormality of the nasal cavity + Abnormal nasal cavity morphology cs - OFFICIAL + CANDIDATE Abnormalita středního nosního průchodu (meatus nasi medius) – prostoru mezi střední a dolní skořepou. @@ -140405,9 +140405,9 @@ Nevus flammeus lokalizovaný na kůži víčka en - Naevus flammeus localised in the skin of the eyelid. + Naevus flammeus localized in the skin of the eyelid. cs - OFFICIAL + CANDIDATE @@ -142147,9 +142147,9 @@ Generalizovaný tonický záchvat je typ generalizovaného motorického záchvatu charakterizovaného oboustranným ztuhnutím nebo elevací končetin, často se ztuhnutím krku bez následné klonické fáze. Tonická aktivita může mít podobu trvalé abnormální polohy, a to buď v extenzi, nebo ve flexi, někdy doprovázené třesem končetin en - A generalized tonic seizure is a type of generalized motor seizure characterised by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities. + A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities. cs - OFFICIAL + CANDIDATE @@ -148268,9 +148268,9 @@ Abnormalita hladiny sérových cytokinů en - Abnormality of serum cytokine level + Abnormal circulating cytokine concentration cs - OFFICIAL + CANDIDATE Abnormální produkce nebo uvolňování cytokinu (tj. některého z proteinů, které nejsou protilátkami a které jsou tvořeny zánětlivými leukocyty a některými neleukocytárními buňkami a ovlivňují chování jiných buněk) @@ -148334,9 +148334,9 @@ Abnormalita v sekreci chemokinu en - Abnormality of chemokine secretion + Abnormal circulating chemokine concentration cs - OFFICIAL + CANDIDATE Abnormální produkce nebo uvolňování interferonů (skupina cytokinů) v buňkách @@ -148347,18 +148347,18 @@ Abnormální produkce nebo uvolňování interferonů (skupina cytokinů) v buňkách en - An abnormality in the production or cellular release of interferons (a class of cytokines). + The concentration of an interferon is outside the limits of normal. cs - OFFICIAL + CANDIDATE Abnormalita v sekreci interferonu en - Abnormality of interferon secretion + Abnormal circulating interferon concentration cs - OFFICIAL + CANDIDATE Abnormální produkce nebo uvolňování interleukinů (skupina cytokinů) v buňkách @@ -148369,18 +148369,18 @@ Abnormální produkce nebo uvolňování interleukinů (skupina cytokinů) v buňkách en - An abnormality in the production or cellular release of interleukins (a class of cytokines). + The concentration of an interleukin (a class of cytokines) is outside the limits of normal. cs - OFFICIAL + CANDIDATE Abnormalita sekrece interleukinu en - Abnormality of interleukin secretion + Abnormal circulating interleukin concentration cs - OFFICIAL + CANDIDATE Abnormální produkce nebo uvolňování TNF v buňkách @@ -149007,7 +149007,7 @@ Dialeptický záchvat je typ záchvatu charakterizovaný převážně sníženou reaktivitou nebo poruchou vědomí s následnou alespoň částečnou amnézií na událost. en - A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event. + A dialeptic seizure is a type of seizure characterized predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event. cs CANDIDATE @@ -149029,7 +149029,7 @@ Fokální motorické záchvaty en - A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event. + A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event. cs CANDIDATE @@ -149051,7 +149051,7 @@ Absenční záchvaty doprovázené krátkými, opakujícími se, často rytmickými, rychlými (4-6 Hz) myoklonickými záškuby očních víček se současným vychýlením očních bulbů nahoru a extenzí hlavy. Záchvaty jsou obvykle velmi krátké (trvání méně než 6 sekund) a vícenásobné záchvaty se vyskytují denně. Vědomí je většinou zachováno. en - An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterised by forced upward jerking of the eyelids during an absence seizure. + An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterized by forced upward jerking of the eyelids during an absence seizure. cs CANDIDATE @@ -149073,7 +149073,7 @@ Rytmické myoklonické záškuby ramen a paží s tonickou abdukcí, které vedou k postupnému zvedání paží během záchvatu. Myoklonické záškuby jsou typicky oboustranné, ale mohou být i jednostranné nebo asymetrické. Periorální myoklonie a rytmické záškuby hlavy se mohou rovněž objevit. Křeče trvají 10-60 a typicky se objevují denně (ve dne?). Křeče doprovází porucha pozornosti různé závažnosti od kompletní ztráty po zachovanou pozornost en - Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterised by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017. + Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterized by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017. cs CANDIDATE @@ -149227,7 +149227,7 @@ Aury s břišním diskomfortem včetně evolnosti, pocitu prázdnoty, těsnosti, kručení, motýlů v břiše, malátnosti, bolesti a hladu, pocit se může propagovat do hrudníku nebo hrdla. Některé jevy mohou odrážet iktální autonomní dysfunkci en - A type of focal autonomic seizure characterised by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature. + A type of focal autonomic seizure characterized by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature. cs CANDIDATE @@ -149315,7 +149315,7 @@ Aury s pocitem blikání nebo blikajících světel, skvrn, jednoduchých vzorů, skotomů nebo amaurózy en - A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation. + A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation. cs CANDIDATE @@ -149403,7 +149403,7 @@ Záchvaty s pravidelně se opakujícím myoklonusem, zahrnujícím stejné svalové skupiny, s frekvencí asi 2-3 c/sec. en - Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups. + Generalized clonic seizure is a type of generalized motor seizure characterized by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups. cs CANDIDATE @@ -149535,7 +149535,7 @@ Tonické záchvaty s trvalou, nuceně konjugovanou rotací oka, hlavy a/nebo trupu nebo laterální odchylkou od střední linie. en - A type of focal motor seizure characterised by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation. + A type of focal motor seizure characterized by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation. cs CANDIDATE @@ -153455,9 +153455,9 @@ Vlasy, které postrádají lesk normálních vlasů. en - Hair that lacks the lustre (shine or gleam) of normal hair. + Hair that lacks the luster (shine or gleam) of normal hair. cs - OFFICIAL + CANDIDATE @@ -154507,9 +154507,9 @@ Porod novorozence pomocí vakuové pumpy, která se používá k asistovanému porodu v případě, že druhá doba porodní dostatečně nepostupuje. en - Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately. + Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labor has not progressed adequately. cs - OFFICIAL + CANDIDATE @@ -164471,9 +164471,9 @@ Významné krvácení či krevní ztárta u matky po porodu en - Significant maternal haemorrhage/blood loss following deilvery of a child. + Significant maternal hemorrhage/blood loss following deilvery of a child. cs - OFFICIAL + CANDIDATE @@ -165869,9 +165869,9 @@ Lymfoproliferativní abnormalita střeva charakterizovaná četnými viditelnými slizničními uzlíky o průměru do 0,5 cm a zřídka přesahujícími tento průměr. Histologicky jsou v lamina propria a povrchové submukóze patrné hyperplastické lymfoidní folikuly s velkými zárodečnými centry. Dochází ke zvětšení slizničních B-buněčných folikulů způsobenému hyperplázií folikulárních center. Jsou obklopeny normálně vypadající plášťovou zónou. Onemocnění může postihnout žaludek, celé tenké střevo a tlusté střevo. en - A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine. + A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centers are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centers; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine. cs - OFFICIAL + CANDIDATE @@ -168137,9 +168137,9 @@ Typ kožního melanomu lokalizovaného na dlani, chodidle nebo pod nehtem (subungvální melanom). Akrální lentiginózní melanom začíná jako pomalu se zvětšující plochá skvrna odbarvené kůže a obvykle vykazuje velikost nad 6 mm a často několik centimetrů nebo více v průměru po diagnóze a variabilní pigmentaci se směsí barev včetně hnědé, modrošedé, černé a červené. Povrch léze je zpočátku hladký, ale později se může stát silnější a nepravidelný a může ulcerovat nebo krvácet en - A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed. + A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discolored skin and usually displays a size above 6 mm and often several centimeters or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed. cs - OFFICIAL + CANDIDATE @@ -169623,9 +169623,9 @@ Odúmrtí buněk bazálních ganglií en - Death of cells in the basal ganglia. + Death of cells in the basal ganglia. This finding can be confirmed by autopsy. It can be suspected with hyperintensities within the basal ganglia on FLAIR and T2-sequences on magnetic resonance imaging. cs - OFFICIAL + CANDIDATE @@ -177297,9 +177297,9 @@ Zánět tukové tkáně en - Inflammation of adipose tissue. + Inflammation of subcutaneous adipose tissue. cs - OFFICIAL + CANDIDATE @@ -177891,18 +177891,18 @@ Abnormálně snížené množství hladiny katalázy en - An abnormally decreased amount of catalase level. + Activity or concentration of catalase in the blood circulation below the lower limit of normal. cs - OFFICIAL + CANDIDATE Snížená hladina katalázy en - Reduced catalase level + Reduced circulating catalase activity cs - OFFICIAL + CANDIDATE Anomálie Willisova okruhu, taktíž známeho jako circulus arteriosus cerebri @@ -178089,9 +178089,9 @@ Nedostatek alfa granulí krevních destiček. To obvykle vede k šedému vzhledu krevních destiček v krevních nátěrech obarvených giemsou. en - A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears. + A lack of platelet alpha granules. This typically results in the gray appearance of platelets in giemsa stained blood smears. cs - OFFICIAL + CANDIDATE @@ -183975,9 +183975,9 @@ Zvýšení poměru průměru pohárku očního disku k celkovému průměru disku. Disk zrakového nervu má oranžově růžový okraj se světlým středem (pohárek), který neobsahuje neuroretinální tkáň. Zvýšení tohoto poměru může znamenat snížení množství zdravých neuroretinálních buněk. en - An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells. + An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disk. The optic disc has an orange-pink rim with a pale center (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells. cs - OFFICIAL + CANDIDATE @@ -186549,9 +186549,9 @@ Abnormalní pohyb očí charakterizovaný současnou slabostí musculus rectus inferior a musculus obliquus superior téhož oka. en - An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye. + An ocular movement abnormality characterized by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye. cs - OFFICIAL + CANDIDATE @@ -186869,7 +186869,7 @@ Abnormální zvýšení koncentrace hemoglobinu v oběhu nad normální hodnoty en - An abnormal elevation above normal hemoglobin concentration in the circulation. + An abnormal elevation above normal hemoglobin concentration in the circulation cs OFFICIAL @@ -186878,9 +186878,9 @@ Zvýšená koncentrace hemoglobinu en - Increased hemoglobin concentration + obsolete Increased hemoglobin concentration cs - OFFICIAL + CANDIDATE Jakákoli odchylka od normálního počtu eozinofilů na objem v krevním oběhu @@ -187529,7 +187529,7 @@ Oportunní onemocnění způsobené invazí jednobuněčné houby Pneumocystis jirovecii. K přenosu cyst P. jirovecii dochází vzdušnou cestou a její přítomnost v plicích je obvykle asymptomatická. Lidé s oslabenou imunitou, zejména ti s počtem CD4+ T buněk nižším než 200/mikrolitr, jsou však stále ohroženi vznikem pneumocystové pneumonie v důsledku invaze P. jirovecii. Příznaky vyvolané tímto onemocněním nejsou specifické: progresivní dušnost, neproduktivní kašel, nízká horečka, arteriální parciální tlak kyslíku pod 65 mmHg a oboustranné zastínení intersticia na rentgenových snímcích plic. en - An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnoea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing. + An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing. cs CANDIDATE @@ -189003,7 +189003,7 @@ Snížené množství cholinesterázy v krevním oběhu. en - A decreased amount of cholinesterase in the blood circulation. + Activity or concentration of cholinesterase in the blood circulation below the lower limit of normal. cs CANDIDATE @@ -189012,7 +189012,7 @@ Snížená hladina cholinesterázy en - Reduced cholinesterase level + Reduced circulating cholinesterase activity cs CANDIDATE @@ -189565,7 +189565,7 @@ Jakákoli strukturální vada sarkomery, jež je základní jednotkou myofibril ve svalové buňce, obsahuje překrývající se tlustá a tenká vlákna mezi dvěma sousedními Z disky en - Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. + Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z disks. cs CANDIDATE @@ -189587,7 +189587,7 @@ Jakákoli strukturální vada Z-disku, což je deskovitá oblast sarkomery, ve které jsou ukotveny +konce aktinových vláken en - Any structural anomaly of the Z disc, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. + Any structural anomaly of the Z disk, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. cs CANDIDATE @@ -189596,7 +189596,7 @@ Abnormální morfologie Z-disku en - Abnormal Z disc morphology + Abnormal Z disk morphology cs CANDIDATE @@ -189609,7 +189609,7 @@ Rozšíření či natažení z-disku, který pak již není omezen na úzkou zónu, která protíná I proužek. Z-disk se může klikatě táhnout napříč I proužkem nebo celou sarkomerou. Současně dochází k ohniskovému zesílení a roztažení z-disku. Myofibrilární dezorganizace je častou, ale ne neměnnou doprovodnou změnou en - Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disc may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change. + Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disk may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change. cs CANDIDATE @@ -192121,7 +192121,7 @@ Naevus anemicus je kožní léze charakterizovaná nepravidelnými hypopigmentovanými makulami které splývají do plaků a vyskytují se primárně na hrudníku. Obvykle se vyskytuje při narození nebo se vyvíjí v prvních dnech života. Je častější u žen. Diagnóza je potvrzena aplikací jemného tření na lézi a okolní kůži a kontrolou, zda se erytém produkovaný na zdravé kůži neobjevuje v hypopigmentované lézi. Tato bledá makula se stává nápadnější, když se léze a její okolí třou. Okraj naevu je špatně ohraničený a skládá se ze souostroví malých anemických skvrn. en - A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anaemic spots. + A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anemic spots. cs CANDIDATE @@ -193771,9 +193771,9 @@ Jednostranná ptóza s přidruženou kontrakcí horního víčka a kontrakcí vnějšího nebo vnitřního musculus pterygoideus. Předpokládá se, že k němu dochází v důsledku vrozeného špatného zapojení větve pátého hlavového nervu do větve třetího hlavového nervu zásobujícího musculus levator. U Marcuse Gunn syndromu je elevace a dokonce retrakce postiženého víčka spuštěna žvýkáním, sáním, bočním pohybem dolní čelisti, úsměvem, kontrakcí musculus sternocleidomastoideus, vyplazeným jazykem, Valsalvovým manévrem a dokonce i dýcháním. en - Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing. + Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva maneuver and even by breathing. cs - OFFICIAL + CANDIDATE @@ -193815,7 +193815,7 @@ Bilaterální tonicko-klonický záchvat s generalizovaným nástupem je typ bilaterálního tonicko-klonického záchvatu, který se vyznačuje generalizovaným nástupem; tyto záchvaty na začátku záchvatu rychle zahrnují obě hemisféry. en - A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterised by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure. + A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterized by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure. cs CANDIDATE @@ -197941,9 +197941,9 @@ Výpočetní tomografie s vysokým prostorovým rozlišením (HRCT) může rozlišit nálezy, které charakterizují intersticiální plicní onemocnění způsobem, který není možný s jinými modalitami en - High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities. + High-resolution computed tomography (HRCT) can distinguish findings that characterize characterize interstitial lung diseases in a way not possible with other modalities. cs - OFFICIAL + CANDIDATE @@ -197963,9 +197963,9 @@ Nález na výpočetní tomografii s vysokým prostorovým rozlišením (HRCT) plic, konkrétně retikulární změna typická nespočetnými vzájemně se proplétající stíny připomínající síť en - On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh. + On pulmonary high-resolution computed tomography, reticular pattern is characterized by innumerable interlacing shadows suggesting a mesh. cs - OFFICIAL + CANDIDATE @@ -198007,9 +198007,9 @@ Nodulární změny na výpočetné tomografii s vysokým rozlišením (HRCT) plic se vyznačuje přítomností četných zaoblených opacit, které jsou od 2 mm do 1 cm v průměru, v případě mikronodulů je nález definován průmerem menším než 3 mm. en - A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter. + A nodular pattern is characterized on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter. cs - OFFICIAL + CANDIDATE @@ -200867,9 +200867,9 @@ Harlekýnský fenomén spočívá v náhlé změně barvy kůže, která má za následek dvě různé barvy těla, jednu na každé polovině těla. en - The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body. + The Harlequin phenomenon consists of a sudden change in skin color, resulting in two different body colors, one on each half of the body. cs - OFFICIAL + CANDIDATE @@ -201309,9 +201309,9 @@ Typ katarakty charakterizovaný kyjovitými a bodovými opacitami umístěnými radiálně v kortexu. Tyto opacity obklopují jádro a výsledná vzhled připomíná korunu en - A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown. + A type of cataract characterized by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown. cs - OFFICIAL + CANDIDATE @@ -201485,9 +201485,9 @@ Anomálie sítnice se serózním odchlípením neurosenzorické sítnice sekundární k jedné nebo více fokálním lézím retinálního pigmentového epitelu (RPE) a spojená s rozmazaným viděním, obvykle pouze na jednom oku a pacientem obvykle vnímána jako tmavá skvrna středu zorného pole s přidruženou mikropsií a metamorfopsií. Normální vidění se často spontánně vrátí během několika měsíců. en - An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the centre of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months. + An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the center of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months. cs - OFFICIAL + CANDIDATE @@ -201563,9 +201563,9 @@ Typ šedého zákalu, který vykazuje velkolepé zobrazení mnoha barev, jež se třpytí při změně dopadajícího světla jako osvětlený vánoční stromek. en - A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree. + A type of cataract that shows a spectacular display of multiple colors that glitters with the change of incident light like an illuminated Christmas tree. cs - OFFICIAL + CANDIDATE @@ -203733,7 +203733,7 @@ Zánět meziobratlové ploténky en - Inflammation of an intervertebral disc or disk space. + Inflammation of an intervertebral disk or disk space. cs CANDIDATE @@ -204239,7 +204239,7 @@ Typ schizencefalie, u kterého je příčný sloupec abnormální šedé hmoty, ale na zobrazení MR není patrný rozštěp obsahující mozkomíšní mok. en - A type of Schizencephaly in which there is a trans-mantle column of abnormal grey matter but no evidence of a CSF-containing cleft on MR imaging. + A type of Schizencephaly in which there is a trans-mantle column of abnormal gray matter but no evidence of a CSF-containing cleft on MR imaging. cs CANDIDATE @@ -204261,7 +204261,7 @@ Typ schizencefalie, při níž je přítomna rozštěpová štěrbina obsahující mozkomíšní mok s přiléhajícími lemujícími okraji abnormální šedé hmoty, které jsou proti sobě. en - A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal grey matter that are opposed to each other. + A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal gray matter that are opposed to each other. cs CANDIDATE @@ -204283,7 +204283,7 @@ Typ schizencefalie, při níž je přítomna rozštěpová štěrbina obsahující mozkomíšní mok s nepřiléhajícími výstelkovými lištami abnormální šedé hmoty. en - A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal grey matter. + A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal gray matter. cs CANDIDATE @@ -210588,9 +210588,9 @@ Abnormální hladina erytrocytárních enzymů en - Abnormal erythrocyte enzyme level + Abnormal erythrocyte enzyme concentration or activity cs - OFFICIAL + CANDIDATE Snížení aktivity adenosindeaminázy (ADA), enzymu zapojeného v purinovém metabolismu, v erytrocytech. ADA katabolizuje adenosin. @@ -211066,9 +211066,9 @@ Abnormalita distální femorální metafýzy en - Distal femoral metaphyseal abnormality + Abnormal distal femoral metaphysis morphology cs - OFFICIAL + CANDIDATE Přítomnost jenom 10 (namísto obvyklých 12) párů žeber @@ -211443,9 +211443,9 @@ Zvětšení vertikální vzdálenosti mezi přilehlými obratlovými těly, pozorované jako zvětšení vzdálenosti meziobratlových plotének en - An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space. + An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disk space. cs - OFFICIAL + CANDIDATE @@ -212103,7 +212103,7 @@ Abnormální hladiny interferonu v krvi en - Abnormal levels of interferon in the blood. + Abnormal levels of interferon in the blood cs OFFICIAL @@ -212112,7 +212112,7 @@ Abnormální koncentrace cirkulujícího interferonu en - Abnormal circulating interferon concentration + obsolete Abnormal circulating interferon concentration cs CANDIDATE @@ -214757,9 +214757,9 @@ Načechraná bílá skvrna na makule, která představuje lokalizované denzní oblasti bělavého otoku nervových vláken sítnice. Často mají klikatou strukturu, nerovný okraj, ale jinak jsou dobře ohraničené a velikost přibližně 1 mm; mírně vystupují do sklivce a někdy vychylují cévy sítnice. en - Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. + Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fiber layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. cs - OFFICIAL + CANDIDATE @@ -216611,9 +216611,9 @@ Fenotyp sítnice charakterizovaný dysfunkcí fotoreceptorů čípků a zachovaným systémem tyčinek. Abnormalita je typicky stacionární nebo velmi pomalu progredující a nálezy mohou zahrnovat oslabené centrální vidění, abnormality barevného vidění, nystagmus a fotofobii. en - Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia. + Retinal phenotype characterized by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, color vision abnormalities, nystagmus and photophobia. cs - OFFICIAL + CANDIDATE @@ -217053,9 +217053,9 @@ Slabost dolní části přímého břišního svalu, která se klinicky zjišťuje takto. Když se pacient posadí nebo zvedne hlavu z polohy vleže, pupek se posune směrem k hlavě. Je to důsledek ochrnutí dolní části přímého břišního svalu, takže převažují horní vlákna, která táhnou pupek vzhůru. en - Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus. + Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibers predominate pulling upwards the umbilicus. cs - OFFICIAL + CANDIDATE @@ -217383,9 +217383,9 @@ Jakákoli strukturální anomálie srdce a velkých cév. en - Any structural anomaly of the heart and great vessels. + Any structural anomaly of the heart and blood vessels. cs - OFFICIAL + CANDIDATE @@ -217901,9 +217901,9 @@ Vývojová anomálie charakterizovaná fokální obliterací proximálního segmentu bronchu. Průdušky jsou distálně od místa stenózy zcela normální. en - A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis. + A developmental anomaly characterized by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis. cs - OFFICIAL + CANDIDATE @@ -219309,7 +219309,7 @@ Abnormální množství některého z interleukinů, skupiny cytokinů, v oběhu en - An abnormal amount of any of the interleukins, a class of cytokines, in the circulation. + An abnormal amount of any of the interleukins, a class of cytokines, in the circulation cs OFFICIAL @@ -219318,7 +219318,7 @@ Abnormální sérová hladina interleukinu en - Abnormal circulating interleukin concentration + obsolete Abnormal circulating interleukin concentration cs CANDIDATE @@ -225743,18 +225743,18 @@ Snížená koncentrace inhibinu B v krvi en - A reduced concentration of inhibin B in the blood. + The concentration of inhibin B in the blood circulation is below the lower limit of normal. cs - OFFICIAL + CANDIDATE Snížená hladina inhibinu B en - Decreased inhibin B level + Decreased circulating inhibin B concentration cs - OFFICIAL + CANDIDATE Jakákoli odchylka od normálního rozmezí antimülleriánského hormonu, peptidu produkovaného buňkami granulózy folikulů. Antimülleriánský hormon (AMH), známý také jako Mülleriánská inhibiční látka, je produkován granulózovými buňkami malých antrálních folikulů vaječníku. AMH má ve vaječníku inhibiční úlohu a přispívá k inhibici folikulů. Hladiny AMH jsou u žen do 8 let věku nízké, do puberty rychle stoupají a od 25 let věku postupně klesají až do menopauzy, kdy produkce AMH ustává. @@ -226478,7 +226478,7 @@ Abnormální hladina natriuretického peptidu typu B en - Abnormal B-type natriuretic peptide concentration + Abnormal circulating B-type natriuretic peptide concentration cs CANDIDATE @@ -227745,9 +227745,9 @@ Typ bezbuněčných močových válců, které obsahují tukové kapky, tuková tělíska nebo krystaly cholesterolu a jsou často asociovány s volnými formami těchto elementů. Jejich identifikace může vyžadovat použití polarizační světelné mikroskopie, v níž se tukové elementy uložené v matrix válce zobrazují jako maltézské kříže en - A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses. + A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarized light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses. cs - OFFICIAL + CANDIDATE @@ -236297,9 +236297,9 @@ Načechraná bílá skvrna na makule, která představuje lokalizované denzní oblasti bělavého otoku nervových vláken sítnice. Často mají klikatou strukturu, nerovný okraj, ale jinak jsou dobře ohraničené a velikost přibližně 1 mm; mírně vystupují do sklivce a někdy vychylují cévy sítnice. en - Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. + Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fiber layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. cs - OFFICIAL + CANDIDATE @@ -237607,9 +237607,9 @@ Typický flutter síní je organizovaná síňová tachykardie. Může být také definován jako reentry tachykardie omezená na pravou síň. Tato arytmie má délku cyklu 200-260 ms, ačkoliv délka může kolísat v závislosti na předchozí léčbě nebo ablaci, vrozené srdeční vadě atd. Komorová frekvenční odpověď bude omezena vedením atrioventrikulárního uzlu, obvykle představuje odpověď 2:1 nebo 3:1, během flutteru síní. Typický (proti směru hodinových ručiček) flutter je spojen s běžným vzorem flutteru: pravidelným kontinuálním vlněním s dominantními negativními výchylkami v dolních svodech II, III a aVF, často popisovaným také jako vzor zubů pily a plochými výchylkami síní ve svodech I a aVL. Síňové výchylky ve V1 mohou být pozitivní, bifázické nebo negativní. en - Typical atrial flutter is an organised atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative. + Typical atrial flutter is an organized atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative. cs - OFFICIAL + CANDIDATE @@ -240447,9 +240447,9 @@ "Podtyp krvácení do fundu vyskytující se v neurosenzorické sítnici. Intraretinální hemoragie mohou mít tvar ""tečky"" nebo ""skvrny"" nebo plamene v závislosti na jejich hloubce v sítnici." en - A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal haemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina. + A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal hemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina. cs - OFFICIAL + CANDIDATE @@ -242945,9 +242945,9 @@ Oční flutter (třepotání) je abnormální oční pohyb sestávající z opakovaných, nepravidelných, mimovolních sérií horizontálních sakád bez intersakadického intervalu. Obvykle se překrývá s normálním okulomotorickým chováním a jeho výskyt mohou podpořit různé události, jako je mrknutí, spuštění normálních sakád nebo optokinetická stimulace. en - Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behaviour and its occurrence may be favoured by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation. + Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behavior and its occurrence may be favored by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation. cs - OFFICIAL + CANDIDATE @@ -243793,9 +243793,9 @@ Abnormální zvýšení poměru výšky pohárku hlavy zrakového nervu k výšce disku. en - An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc. + An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disk. cs - OFFICIAL + CANDIDATE @@ -243815,9 +243815,9 @@ Poměr výšky pohárku hlavičky zrakového nervu k výšce disku je 0,6 (normální poměr pohárku a disku je 0,3). en - Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.6 (The normal cup-to-disc ratio is 0.3). + Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.6 (The normal cup-to-disc ratio is 0.3). cs - OFFICIAL + CANDIDATE @@ -243837,9 +243837,9 @@ Poměr výšky pohárku hlavičky zrakového nervu k výšce disku je 0,7 (normální poměr pohárku a disku je 0,3). en - Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.7 (The normal cup-to-disc ratio is 0.3). + Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.7 (The normal cup-to-disc ratio is 0.3). cs - OFFICIAL + CANDIDATE @@ -243859,9 +243859,9 @@ Poměr výšky pohárku hlavičky zrakového nervu k výšce disku je 0,8 (normální poměr pohárku a disku je 0,3). en - Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3). + Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.8 (The normal cup-to-disc ratio is 0.3). cs - OFFICIAL + CANDIDATE @@ -243881,9 +243881,9 @@ Poměr výšky pohárku hlavičky zrakového nervu k výšce disku je 0,9 (normální poměr pohárku a disku je 0,3). en - Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.9 (The normal cup-to-disc ratio is 0.3). + Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.9 (The normal cup-to-disc ratio is 0.3). cs - OFFICIAL + CANDIDATE @@ -243903,9 +243903,9 @@ Poměr výšky pohárku hlavičky zrakového nervu k výšce disku je 1,0 (normální poměr pohárku a disku je 0,3). en - Ratio of the height of the cup of the optic nerve head to the height of the disc is 1.0 (The normal cup-to-disc ratio is 0.3). + Ratio of the height of the cup of the optic nerve head to the height of the disk is 1.0 (The normal cup-to-disc ratio is 0.3). cs - OFFICIAL + CANDIDATE @@ -244915,7 +244915,7 @@ Snížená koncentrace cirkulujícího alfa1-antitrypsinu, glykoproteinu o velikosti 52-kDam který je syntetizovaný a vylučovaný hepatocyty do krevního řečiště. Alfa1-antitrypsin je inhibitor séroproteinázy, který má zásadní význam pro udržení proteázové homeostázy v plicích en - A reduced concentration or activity of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs. + A reduced concentration or activity of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesized and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs. cs CANDIDATE @@ -244959,9 +244959,9 @@ Žluté, bílé nebo šedavé léze na sítnici, které jsou dobře ohraničené/výrazné, jednotlivé a většinou stejné velikosti. en - Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size. + Yellow, white or grayish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size. cs - OFFICIAL + CANDIDATE @@ -244981,9 +244981,9 @@ Žluté, bílé nebo šedavé léze v makule, které jsou dobře ohraničené/výrazné, jednotlivé a většinou stejné velikosti. en - Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size. + Yellow, white or grayish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size. cs - OFFICIAL + CANDIDATE @@ -245025,9 +245025,9 @@ Zvýšená laxita šlachy stabilizující laterální část tarzální ploténky ke zygomatické kosti. Toto může vést k obloukovitému vzhledu laterálního očního koutku. Když je takové víčko odtaženo mediálně, je možné pozorovat pohyb kantálního úhlu o více než 2 mm. en - Laxity of the tendon stabilising the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed. + Laxity of the tendon stabilizing the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed. cs - OFFICIAL + CANDIDATE @@ -245047,9 +245047,9 @@ Laxicita vazu stabilizujícího mediální část tarzální ploténky na anteriorní a posteriorní crista lacrimalis. Pokud se víčko odtáhne laterálně, dojde k posunu punctum lacrimale více než 2 mm. en - Laxity of the tendon stabilising the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally. + Laxity of the tendon stabilizing the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally. cs - OFFICIAL + CANDIDATE @@ -245091,9 +245091,9 @@ Abnormálně laxní oční víčka asociované s relaxací tkání, predominantně ve vertikální rovině. Lze demonstrovat vertikálním tahem za víčko. Oslabení vertikálních stabilizačních struktur (e.g. dolních retraktorů víčka) či tarzální atrofie jsou často přítomny. en - Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilising structures (e.g. lower lid retractors) or tarsal atrophy are often present. + Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilizing structures (e.g. lower lid retractors) or tarsal atrophy are often present. cs - OFFICIAL + CANDIDATE @@ -245531,7 +245531,7 @@ Podtyp fokální kortikální dysplazie typu III, který je charakterizován změnami v architektonické organizaci (kortikální dyslaminace) nebo cytoarchitektonickém složení (hypertrofické neurony mimo vrstvu 5) u pacientů s hipokampální sklerózou. en - A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organisation (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis). + A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organization (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis). cs CANDIDATE @@ -247887,9 +247887,9 @@ Neobvykle závažná forma infekce virem Varicella zoster (VZV). Ve většině případů, zejména u dětí, je varicella velmi mírnou infekcí charakterizovanou kožními lézemi, nízkou horečkou a malátností. Těžká infekce je charakterizována projevy zahrnujícími VZV pneumonii, hepatitidu, meningitidu a diseminovanou varicellu. en - An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterised by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella. + An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterized by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella. cs - OFFICIAL + CANDIDATE @@ -248569,9 +248569,9 @@ Vulvární intraepiteliální neoplazie (VIN) je obecně považována za prekurzor vulvárního dlaždicobuněčného karcinomu (VSCC). VSCC vzniká buď cestou spojenou s lidským papiloma virem (HPV), nebo častěji mechanismem nezávislým na HPV, často spojeným s chronickými zánětlivými stavy, jako je lichen sclerosus (LS). V souladu s tím jsou uznávány dva odlišné podtypy VIN: HPV asociovaná skvamózní intraepiteliální léze vysokého stupně/obvyklá VIN (HSIL/uVIN) a HPV neasociovaná diferencovaná VIN (dVIN). HSIL se klinicky pozná podle multifokálního bradavičnatého vzhledu a histologicky podle nápadných cytologických a architektonických atypií. Diferencovaná VIN naproti tomu často vytváří špatně definované léze a na histologii notoricky napodobuje nenádorové epiteliální poruchy (NNED), zejména LS. V důsledku toho je dVIN zřídka identifikována dříve, než je diagnostikována invazivní malignita, přestože je prekurzorovou lézí většiny VSCC. en - Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognised: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC. + Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognized: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC. cs - OFFICIAL + CANDIDATE @@ -250033,7 +250033,7 @@ Zvýšená hladina kyseliny N-acetylasparagové (NAA) v moči. Tuto vlastnost lze měřit pomocí plynové chromatografie s hmotnostní spektrometrií. en - Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry. + Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry cs OFFICIAL @@ -250042,9 +250042,9 @@ Zvýšená hladina kyseliny N-acetylasparagové v moči en - Elevated urinary N-acetylaspartic acid level + obsolete Elevated urinary N-acetylaspartic acid level cs - OFFICIAL + CANDIDATE Abnormálně zvýšená koncentrace N-Acetylaspartátové kyseliny v krevním oběhu @@ -253863,7 +253863,7 @@ Typ lissencefalie, při níž je při neuropatologickém vyšetření korová ploténka silně dezorganizovaná s věnčitým vzorem a bez laminace a jasného ohraničení bílé a šedé hmoty. en - A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and grey matter. + A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and gray matter. cs CANDIDATE @@ -255336,7 +255336,7 @@ Snížená hladina koncentrace semialdehydu dehydrogenázy en - Decreased succinic semialdehyde dehydrogenase level + Decreased tissue succinic semialdehyde dehydrogenase activity cs CANDIDATE @@ -258555,7 +258555,7 @@ Typ fokálního záchvatu charakterizovaný nemotorickými příznaky nebo symptomy (nebo zárazy v chování) jako počátečním semiologickým projevem. en - A type of focal-onset seizure characterized by non-motor signs or symptoms (or behaviour arrest) as its initial semiological manifestation. + A type of focal-onset seizure characterized by non-motor signs or symptoms (or behavior arrest) as its initial semiological manifestation. cs CANDIDATE @@ -259721,7 +259721,7 @@ Fokální emoční záchvat s hněvem je charakterizován přítomností hněvu jako vyjádřené nebo pozorované emoce na začátku záchvatu. Může být doprovázen agresivním chováním. en - Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behaviour. + Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behavior. cs CANDIDATE @@ -260139,7 +260139,7 @@ Fokální autonomní záchvat charakterizovaný poruchou vědomí v určitém okamžiku záchvatu en - A focal autonomic seizure characterised by impaired awareness at some point within the seizure. + A focal autonomic seizure characterized by impaired awareness at some point within the seizure. cs CANDIDATE @@ -260337,7 +260337,7 @@ Typ fokálního autonomního záchvatu charakterizovaný erekcí penisu jako počátečním semiologickým příznakem en - A type of focal autonomic seizure characterised by penile erection as the initial semiological feature. + A type of focal autonomic seizure characterized by penile erection as the initial semiological feature. cs CANDIDATE @@ -260877,9 +260877,9 @@ Fokální záchvat se zárazem v chování charakterizovaný zachovaným vědomím po celou dobu záchvatu. en - A focal behavior arrest seizure characterised by retained awareness throughout the seizure. + A focal behavior arrest seizure characterized by retained awareness throughout the seizure. cs - OFFICIAL + CANDIDATE @@ -260899,9 +260899,9 @@ Fokální záchvat se zárazem v chování charakterizovaný poruchou vědomí v určitém okamžiku záchvatu. en - A focal behavior arrest seizure characterised by impaired awareness at some point during the seizure. + A focal behavior arrest seizure characterized by impaired awareness at some point during the seizure. cs - OFFICIAL + CANDIDATE @@ -260943,9 +260943,9 @@ Tonický záchvat je typ motorického záchvatu charakterizovaný jednostranným nebo oboustranným ztuhnutím nebo elevací končetin, často se ztuhnutím krku. en - A tonic seizure is a type of motor seizure characterised by unilateral or bilateral limb stiffening or elevation, often with neck stiffening. + A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening. cs - OFFICIAL + CANDIDATE @@ -260987,7 +260987,7 @@ Myoklonický záchvat je typ motorického záchvatu charakterizovaný náhlou, krátkou (100 ms) mimovolní kontrakcí jednoho nebo více svalů nebo svalových skupin s různou topografií (axiální, proximální končetiny, distální). Myoklonus je méně pravidelně se opakující a méně trvalý než klonus. en - A myoclonic seizure is a type of motor seizure characterised by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. + A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. cs CANDIDATE @@ -261009,7 +261009,7 @@ Generalizované myoklonicko-tonicko-klonické křeče jsou typem generalizované motorické křeče charakterizované jedním nebo více záškuby končetin oboustranně, po nichž následuje tonická a klonická fáze. Počáteční záškuby lze považovat buď za krátké období klonu, nebo za myoklonus. en - A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterised by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus. + A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterized by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus. cs CANDIDATE @@ -262231,7 +262231,7 @@ Záchvat charakterizovaný zrakovými halucinacemi, jako jsou blikající světla/barvy, tvary, jednoduché obrazce, skotomata nebo amauróza. en - A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis. + A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis. cs CANDIDATE @@ -263881,7 +263881,7 @@ Lehký řetězec neurofilament (NfL) je neuronální cytoplazmatický protein vysoce exprimovaný v myelinizovaných axonech velkého kalibru. Jeho hladina se zvyšuje v mozkomíšním moku (likvoru) a krvi úměrně stupni axonálního poškození u různých neurologických poruch, včetně zánětlivých, neurodegenerativních, traumatických a cerebrovaskulárních onemocněn en - Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large calibre myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases. + Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large caliber myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases. cs CANDIDATE @@ -266865,7 +266865,7 @@ Různé léky mohou příležitostně způsobit přechodnou krystalurii, izolovaně nebo ve spojení s jinými abnormalitami moči. Předávkování, dehydratace nebo hypoalbuminémie, které zvyšují množství nenavázaného léčiva, které je ultrafiltrováno glomerulem, jsou faktory obvykle podporující precipitaci krystalů v lumen tubulů. V některých případech má medikamentózní krystalurie typický fenotypový vzhled. Například krystaly sulfadiazinu se jeví jako silně dvojlomné „stohy pšenice“ nebo „skořápky“ s jantarovou barvou. Krystaly acykloviru jsou dvojlomné a jehličkovité, a když jsou hojné, dávají moči hedvábný a opaleskující makroskopický vzhled. en - A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber colour. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance. + A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber color. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance. cs CANDIDATE @@ -268141,7 +268141,7 @@ Nekróza kůže a podkožní tkáně (odumření tkáně). Klinicky se kožní nekróza může projevovat jako bolestivá a extrémně citlivá černá eschara (odumřelá tkáň v ráně v celé tloušťce) obklopená tmavě šedočerveně zbarvenou kůží. en - Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red coloured skin. + Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red colored skin. cs CANDIDATE @@ -272953,7 +272953,7 @@ Čtyřnásobné nebo větší zvýšení obvyklé frekvence záchvatů během třídenního období, kdy pacient prokáže úplné zotavení mezi jednotlivými záchvaty v rámci nakupení. Nakupení záchvatů by mělo být rozpoznatelné pro primárního lékaře, ošetřovatele nebo pacienta. en - A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognisable by the primary clinician, carer or patient. + A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognizable by the primary clinician, carer or patient. cs CANDIDATE @@ -274031,7 +274031,7 @@ Uložení hyalinizovaných kolagenních vláken v parietální pleuře (přednostně v pleuře přiléhající k žebrům, zejména k šestému až devátému žebru). en - Deposits of hyalinized collagen fibres in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs). + Deposits of hyalinized collagen fibers in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs). cs CANDIDATE @@ -275033,7 +275033,7 @@ Zvýšená koncentrace dodekanoylkarnitinu v krevním oběhu en - Concentration of dodecanoylcarnitine in the blood circulation above the upper limit of normal. + Concentration of dodecanoylcarnitine (C12:0) in the blood circulation above the upper limit of normal. cs CANDIDATE @@ -277285,7 +277285,7 @@ Zánět choriových klků (vilitida) neznámé etiologie je histologická diagnóza, a přestože může mít proměnnou distribuci, důkazy naznačují, že 3 parenchymální bloky identifikují 62 % vilitidy a dosahují asymptoty 6 a 7 bloků identifikujících 85 % vilitidy. Vilitida neznámé etiologie podle definice vylučuje ty případy, kdy je identifikována etiologie, jako jsou virové nebo akutní infekce, a proto se jí dává přednost před termínem nespecifická chronická vilitida. Obvykle je lymfohistiocytární: ačkoli přítomnost vzácných plazmatických buněk nevylučuje diagnózu, u převážně plazmatické vilitidy je nutné důkladné vyšetření infekční etiologie, jako je cytomegalovirus. en - Villitis of unknown etiology (synonymous with villitis of unknown aetiology) is a histologic diagnosis and, although it may have a variable distribution, evidence indicates that 3 parenchymal blocks will identify 62% of villitis, reaching an asymptote of 6 and 7 blocks identifying 85% of villitis. Villitis of unknown etiology by definition excludes those cases where an etiology is identified, such as viral or acute infections, and thus is preferred to the term nonspecific chronic villitis. It is usually lymphohistiocytic: although the presence of rare plasma cells does not exclude the diagnosis, thorough evaluation for an infectious etiology, such as cytomegalovirus, is required in a predominantly plasma cell villitis. + Villitis of unknown etiology (synonymous with villitis of unknown etiology) is a histologic diagnosis and, although it may have a variable distribution, evidence indicates that 3 parenchymal blocks will identify 62% of villitis, reaching an asymptote of 6 and 7 blocks identifying 85% of villitis. Villitis of unknown etiology by definition excludes those cases where an etiology is identified, such as viral or acute infections, and thus is preferred to the term nonspecific chronic villitis. It is usually lymphohistiocytic: although the presence of rare plasma cells does not exclude the diagnosis, thorough evaluation for an infectious etiology, such as cytomegalovirus, is required in a predominantly plasma cell villitis. cs CANDIDATE @@ -277857,7 +277857,7 @@ Prekapilární plicní hypertenze je hemodynamický stav charakterizovaný zvýšeným středním tlakem v plicnici (mPAP nad 20 mmHg) a plicním cévním odporem (PVR 3 Woodovy jednotky nebo více) doprovázeným normálním tlakem v zaklínění plicnice (PAWP nejvýše 15 mmHg). en - Pre-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg). + Pre-capillary pulmonary hypertension is a haemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg). cs CANDIDATE @@ -277901,7 +277901,7 @@ Abnormální nález při měření sumačního akčního potenciálu u EMG. Studie nervového vedení zahrnují aplikaci depolarizujících elektrických pulzů vln obdélnikového průběhu na kůži přes periferní nerv, čímž se vytvoří: (1) šířící se nervový akční potenciál (NAP) zaznamenaný ve vzdáleném bodě stejného nervu: a (2) sumární akční potenciál svalu (CMAP) vznikající aktivací svalových vláken v cílovém svalu zásobovaném nervem. Oba druhy mohou být zaznamenány povrchovými nebo jehlovými elektrodami. CMAP je souhrnná napěťová odezva z jednotlivých akčních potenciálů svalových vláken. Nejkratší latence CMAP je doba od stimulačního artefaktu do nástupu odpovědi a jedná se o dvoufázovou odezvu s počáteční výchylkou nahoru, po níž následuje menší výchylka dolů. Amplituda CMAP se měří od základní čáry po zápornou špičku (neurofyziologická konvence je, že záporné napětí se projevuje odchylkou směrem nahoru) a měří se v milivoltech (mV). en - An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibres in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fibre action potentials. The shortest latency of the CMAP is the time from stimulus artefact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV). + An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibers in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fiber action potentials. The shortest latency of the CMAP is the time from stimulus artifact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV). cs CANDIDATE @@ -278627,7 +278627,7 @@ Pevné, homogenní noduly vyznačující se hladkým okrajem a oválným, zaobleným, lentiformním nebo trojúhelníkovým tvarem. Obvykle se nacházejí do 15 mm od abnormality nebo od pleury. Perifisurální noduly lze dále rozlišovat na typické (mají kontakt s interlobární přepážkou) a atypické (nemají kontakt s interlobární přepážkou). Pravděpodobně představují intrapulmonální lymfatické uzliny. en - Solid, homogenous nodules characterised by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes. + Solid, homogenous nodules characterized by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes. cs CANDIDATE @@ -279111,7 +279111,7 @@ Postkapilární plicní hypertenze je hemodynamický stav charakterizovaný zvýšeným středním tlakem v plicnici (mPAP větší než 20 mmHg) a tlakem v zaklínění plicnice (PAWP větší než 15 mmHg) a plicní vaskulární rezistencí (PVR menší než 3 Woodovy jednotky). en - Post-capillary pulmonary hypertension is a hemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units). + Post-capillary pulmonary hypertension is a hemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units). cs CANDIDATE @@ -279133,7 +279133,7 @@ Kombinovaná pre- a postkapilární plicní hypertenze je hemodynamický stav charakterizovaný zvýšeným středním tlakem v plicnici (mPAP nad 20 mmHg) a tlakem v zaklínění plicnice (PAWP nad 15 mmHg) a plicní vaskulární rezistencí (PVR alespoň 3 Woddovy jednotky). en - Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units). + Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units). cs CANDIDATE @@ -280079,7 +280079,7 @@ Nejčastější forma astrocytomu (WHO grade I) v dětském věku. Obvykle se u nich vyskytují abnormality signální dráhy MAPK. en - The most common form of astrocytoma (WHO Grade I) in childhood. These typically have MAPK signalling pathway abnormalities. + The most common form of astrocytoma (WHO Grade I) in childhood. These typically have MAPK signaling pathway abnormalities. cs CANDIDATE @@ -291271,7 +291271,7 @@ Plicní embolie je způsobena emboliemi, které pocházejí z žilních trombů, putují do plicních tepen a ucpávají je. en - Pulmonary embolism is caused by emboli, which have originated from venous thrombi, travelling to and occluding the arteries of the lung. + Pulmonary embolism is caused by emboli, which have originated from venous thrombi, traveling to and occluding the arteries of the lung. cs CANDIDATE @@ -293671,7 +293671,7 @@ Vrozeně anomálně zvětšený optický disk (plocha větší než 2,50 milimetru čtverečních). Považuje se za normální variantu bez fyziologických defektů. en - A congenitally anomalous enlarged optic disk (surface area greater than 2.50 square millimeters). It is considered to be a normal variant without physiological defects. + A congenitally anomalous enlarged optic disc (surface area greater than 2.50 square millimeters). It is considered to be a normal variant without physiological defects. cs CANDIDATE @@ -295511,7 +295511,7 @@ Hilová lymfadenopatie je zduření nebo zvětšení lymfatických uzlin lokalizovaných v hilu, klínovité anatomické struktuře obsahující plicní cévy, hlavní průdušky, nervy a lymfatické uzliny. Hilové lymfatické uzliny nejsou na rentgenovém snímku hrudníku viditelné, pokud nejsou zvětšené. Zvětšení hilových lymfatických uzlin může být způsobeno benigními i maligními stavy a může být symetrické (oboustranné) nebo asymetrické (jednostranné). en - Hilar lymphadenopathy is swelling or enlargement of lymph nodes localised in hila, wedge-shaped anatomical structures containing pulmonary vessels, major bronchi, nerves and lymph nodes. Hilar lymph nodes are not visible on chest X-ray if they are not enlarged. Hilar lymph node enlargement can be caused by benign and malignant conditions and can be symmetrical (bilateral) or asymmetrical (unilateral). + Hilar lymphadenopathy is swelling or enlargement of lymph nodes localized in hila, wedge-shaped anatomical structures containing pulmonary vessels, major bronchi, nerves and lymph nodes. Hilar lymph nodes are not visible on chest X-ray if they are not enlarged. Hilar lymph node enlargement can be caused by benign and malignant conditions and can be symmetrical (bilateral) or asymmetrical (unilateral). cs CANDIDATE @@ -295533,7 +295533,7 @@ Varixy plicních žil jsou lokalizované dilatace plicních žil. Jde o vzácný stav, který může být vrozený, nebo získaný. Obvykle se vyskytují na soutoku žil přiléhajících k levé síni. Někdy se dělí na tři morfologické typy: vakovité, tortuózní a splývající. en - Pulmonary vein varix (PVV), refers to a localised dilatation of a pulmonary vein. PVV is a rare condition and can be congenital or acquired. PVV typically occur at the confluence of the veins adjacent to the left atrium. PVVs are sometimes classified into three morphological types: saccular, tortuous and confluent. + Pulmonary vein varix (PVV), refers to a localized dilatation of a pulmonary vein. PVV is a rare condition and can be congenital or acquired. PVV typically occur at the confluence of the veins adjacent to the left atrium. PVVs are sometimes classified into three morphological types: saccular, tortuous and confluent. cs CANDIDATE @@ -298952,9 +298952,9 @@ Abnormalita chloupků v nose en - Abnormality of nasal hair + Abnormal nasal hair morphology cs - OFFICIAL + CANDIDATE Kalcifikace žeber @@ -299798,9 +299798,9 @@ Abnormální koncentrace železa v séru en - Abnormal serum iron concentration + Abnormal circulating iron concentration cs - OFFICIAL + CANDIDATE Abnormální rychlost vedení motorického nervu @@ -299981,18 +299981,18 @@ Snížená aktivita reakce 5-oxo-L-prolin + ATP + 2 H(2)O = L-glutamát + ADP + 2 H(+) + fosfát en - Decreased level of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate. + Activity or concentration of 5-oxoprolinase in the blood circulation below the lower limit of normal. This enzyme catalyzes the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate. cs - OFFICIAL + CANDIDATE Snížená hladina 5-oxoprolinázy en - Reduced 5-oxoprolinase level + Reduced circulating 5-oxoprolinase activity cs - OFFICIAL + CANDIDATE Os odontoideum se anatomicky klasifikuje do dvou typů (ortotopická a dystopická). Os odeontoideum je difinovaná jako kůstka, která vzniká z hladké a koncové části processus odontoideus. V případě ortotopické os odontoideum se kůstka přesouvá s přední části nosiče (C1, atlas), zatímco v případě dystopického typu zůstává kůstka blízko předního okraje foramen magnum nebo je srostlá s bazi lební anteriorně od foramen magnum. @@ -300105,7 +300105,7 @@ Přítomnost vlnitých vlasů na pokožce hlavy. Termín vlnité vlasy označuje abnormální variantu vlasů, které jsou jemné, s pevně stočenými kadeřemi a často hypopigmentované. Optická mikroskopie může odhalit přítomnost těsných spirál a zřetelné zmenšení průměru ve srovnání s normálními vlasy. Elektronová mikroskopie může ukázat ploché, oválné vlasové stvoly se zmenšeným příčným průměrem. en - The presence of woolly hair on the scalp. The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. + The presence of wooly hair on the scalp. The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. cs CANDIDATE @@ -302812,9 +302812,9 @@ Snížené sérového železa en - Decreased serum iron + Decreased circulating iron concentration cs - OFFICIAL + CANDIDATE Zdvojení sella turcica @@ -308345,9 +308345,9 @@ Pojem mozková obrna označuje skupinu trvalých poruch vývoje motoriky a držení těla, které vede k omezení aktivity. Tyto poruchy jsou neprogresivní a jsou důsledkem inzultu poškozujícího vývoj mozku plodu nebo kojence. Motorické poruchy při mozkové obrně jsou často provázeny poruchami smyslů, percepce, kognice, komunikace, chování a epilepsií a sekundárními muskuloskeletálními problémy en - Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems. + Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems. cs - OFFICIAL + CANDIDATE @@ -311489,9 +311489,9 @@ Ektopický respirační epitel, který se projevuje jako povrchová kožní léze obvykle jednostranně lokalizovaná v kůži předloktí a spojená s ipsilaterálními malformacemi ruky en - Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations. + Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localized unilateral in the skin of the forearm and associated with ipsilateral hand malformations. cs - OFFICIAL + CANDIDATE @@ -312145,9 +312145,9 @@ Gustatorní lakrimace vzniká kvůli aberantní inervaci vláken sedmého hlavového nervu do pterygopalatinního ganglion místo submandibulárního ganglion. Toto vede k nekontrolovanému slzení při jídle nebo při očekávání jídla. en - Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal. + Gustatory lacrimation results from an aberrant innervation of fibers from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal. cs - OFFICIAL + CANDIDATE @@ -313071,9 +313071,9 @@ Imunologické stavy, kdy imunitní systém reaguje škodlivými reakcemi v případě opakované expozici senzibilizujícími antigeny en - Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens. + Immunological states where the immune system produces harmful responses upon reexposure to sensitizing antigens. cs - OFFICIAL + CANDIDATE @@ -319619,9 +319619,9 @@ Anomálie Sharpeyových vláken (kostních vláken nebo perforujících vláken), což je matrix pojivové tkáně tvořená svazky silných kolagenních vláken spojujících periost s kostí. en - An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone. + An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibers connecting periosteum to bone. cs - OFFICIAL + CANDIDATE @@ -322189,9 +322189,9 @@ Depozitá různé velikosti, tvaru, konzistence, refrakčního indexu a pohyblivosti v rámci očního sklivce, který je za normálních okolností průhledný. en - Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent. + Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humor, which is normally transparent. cs - OFFICIAL + CANDIDATE @@ -324502,9 +324502,9 @@ Plachost en - Shyness + Excessive shyness cs - OFFICIAL + CANDIDATE Zvýšená citlivost na stimulaci, s výjimkou speciálních smyslů (hlavních smyslů)m To může odkazovat na různé způsoby kožní citlivosti včetně dotyku a tepelného vjemu bez bolesti a vněm bolesti jako takové. @@ -328797,7 +328797,7 @@ Abnormalita aktivity uridindifosfátglukóza-4-epimerázy, enzymu katalyzující reakci: UDP-glukóza = UDP-galaktóza en - An abnormality in uridine diphosphate glucose-4-epimerase level, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose. + An abnormality in uridine diphosphate glucose-4-epimerase level, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose cs CANDIDATE @@ -328806,7 +328806,7 @@ Abnormální aktivita uridin difosfát glukóza-4-epimerázy en - Abnormal uridine diphosphate glucose-4-epimerase level + obsolete Abnormal uridine diphosphate glucose-4-epimerase level cs CANDIDATE @@ -328828,7 +328828,7 @@ Abnormální aktivita uridin difosfát glukóza-4-epimerázy v plazmě en - Abnormal uridine diphosphate glucose-4-epimerase level in plasma + Abnormal circulating UDP glucose-4-epimerase concentration cs CANDIDATE @@ -328850,7 +328850,7 @@ Zvýšená aktivita uridindifosfátglukóza-4-epimerázy v plazmě en - Increased uridine diphosphate glucose-4-epimerase level in plasma + Increased circulating UDP glucose-4-epimerase concentration cs CANDIDATE @@ -328872,7 +328872,7 @@ Snížená aktivita uridindifosfátglukóza-4-epimerázy v plazmě en - Decreased uridine diphosphate glucose-4-epimerase level in plasma + Decreased circulating UDP glucose-4-epimerase concentration cs CANDIDATE @@ -328894,7 +328894,7 @@ Abnormální aktivita uridin difosfát glukóza-4-epimerázy v červených krvinkách en - Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells + Abnormal erythrocyte UDP glucose-4-epimerase concentration cs CANDIDATE @@ -328916,7 +328916,7 @@ Zvýšená aktivita uridindifosfátglukóza-4-epimerázy v červených krvinkách en - Increased uridine diphosphate glucose-4-epimerase level in red blood cells + Increased erythrocyte UDP glucose-4-epimerase concentration cs CANDIDATE @@ -328938,7 +328938,7 @@ Snížená aktivita uridindifosfátglukóza-4-epimerázy v červených krvinkách en - Decreased uridine diphosphate glucose-4-epimerase level in red blood cells + Decreased erythrocyte UDP glucose-4-epimerase concentration cs CANDIDATE @@ -335169,9 +335169,9 @@ Léze konjunktivy tvořená tukovou tkání a hustou pojivovou tkání. Tento typ choristomu složeného z kožních elementů se normálně vyskytuje při vnějším kantu a má gelatinózní vzhled. Klasicky mívá nejasnou zadní hranici (léze často expanduje do orbity) a jasně ohraničenou přední část, několik milimetrů za limbem. en - A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus. + A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimeters posterior to the limbus. cs - OFFICIAL + CANDIDATE @@ -335389,9 +335389,9 @@ Charakteristický vzhled břidlicově šedé oblasti pigmentace v rámci okrajů disku, která se běžně objevuje podél inferotemporálního nebo temporálního neuroretinálního okraje. en - Having a characteristic appearance of a slate gray area of pigmentation within the disc margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas. + Having a characteristic appearance of a slate gray area of pigmentation within the disk margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas. cs - OFFICIAL + CANDIDATE @@ -335499,9 +335499,9 @@ Hamartom lymfatických cest obvykle se vyskytující v dětství. Mívá tendenci zvěšit se při poloze s hlavou dolů a s Valsalvovým manévrem. Povrchové léze vypadají jako prosvítitelné cystické prostory víčka nebo spojivky a můžou obsahovat krev. Hluboké léze můžou způsobovat graduální proptózu či prezentovat se jako akutní orbitální bolest a omezení vidění z důvodu krvácení. en - A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva manoeuvre. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to haemorrhage. + A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva maneuver. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to hemorrhage. cs - OFFICIAL + CANDIDATE @@ -338999,18 +338999,18 @@ Abnormalita předního bříška musculus occipitofrontalis zvaného musculus frontalis. en - An abnormality of a frontalis muscle belly. + Abnormal function of the frontalis muscle, which covers parts of the forehead and is responsible for raising the eyebrows. cs - OFFICIAL + CANDIDATE Abnormalita musculus frontalis en - Abnormality of frontalis muscle belly + Abnormal frontalis muscle physiology cs - OFFICIAL + CANDIDATE Abnormalita žvýkacího svalu. @@ -340781,7 +340781,7 @@ Tvorba prvojader je kritickým procesem během oplodnění. Normálně jsou v zygotě po oplodnění dvě prvojádra (2PN), tedy otcovské a mateřské. Obecně se uznává, že tvorba mnohočetných prvojader (MPN) je způsobena abnormální extruzí druhého polárního tělíska nebo abnormálním oplodněním více spermiemi. MPN proto může způsobit neplodnost a opakované selhání IVF/ICSI en - Pronuclei formation is a critical process during fertilisation. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilisation. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilisation with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI. + Pronuclei formation is a critical process during fertilization. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilization. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilization with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI. cs CANDIDATE @@ -341198,7 +341198,7 @@ Pozitivita anti-LAD-1 protilátek en - anti-LAD-1 antibody positivity + Anti-LAD-1 antibody positivity cs CANDIDATE @@ -341827,7 +341827,7 @@ Jakákoli abnormalita programované buněčné smrti (apoptózy), která je definována jako organizovaný zánik buňky charakterizovaný blebbingem membrány (vznikem nepravidelných záhybů), smršťováním buňky, kondenzací chromatinu a fragmentací DNA, po níž následuje rychlé pohlcení zbylého materiálu sousedními buňkami. Apoptóza se od smrti nekrózou liší absencí související zánětlivé reakce. en - Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterised by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighbouring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response. + Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterized by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighboring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response. cs CANDIDATE @@ -342367,7 +342367,7 @@ Absence nebo omezení sdílení objektů. Sdílení objektů je raně se objevující sociální dovednost, ve které chce dítě sdílet předměty s rodiči nebo vrstevníky během hry s předměty. Sdílení objektů se obvykle rozvíjí během prvních dvou let života. en - An absence or reduction in object sharing. Object sharing is an early emerging social skill in which a child will share objects such as toys, balls, or books with parents or peers during object play. Object sharing typically develops within the first two years of life. + An absence or reduction in object sharing. Object sharing is an early emerging social skill in which a child will share objects such as toys, balls, or books with parents or peers during object play. cs CANDIDATE @@ -342477,7 +342477,7 @@ Snížená schopnost vést vzájemnou konverzaci (tam a zpět) charakterizovaná nedostatky ve schopnosti komentovat témata diskuse ostatních, neumět klást otázky a nestavět konverzaci na komentářích ostatních. Postižené osoby nemusí vědět, co mají v rozhovoru říct dál, nemusí si všimnout, zda se ostatní daným tématem nudí, mohou vést jednostrannou konverzaci (mluvit, ale neposlouchat) nebo mohou odbíhat od tématu více, než je společensky přijatelné. en - Reduced ability to conduct a reciprocal (back and forth) conversation, as expected for language level. + Reduced use of reciprocal (back and forth) conversation, as compared to what would be expected for language level. cs CANDIDATE diff --git a/src/translations/hp-cs.synonyms.owl b/src/translations/hp-cs.synonyms.owl index 884ad0285..169ade507 100644 --- a/src/translations/hp-cs.synonyms.owl +++ b/src/translations/hp-cs.synonyms.owl @@ -8,8 +8,8 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - - 2024-03-06 + + 2024-04-03 diff --git a/src/translations/hp-de-not-translated.babelon.tsv b/src/translations/hp-de-not-translated.babelon.tsv index 69c0aff32..3a2e6ffdb 100644 --- a/src/translations/hp-de-not-translated.babelon.tsv +++ b/src/translations/hp-de-not-translated.babelon.tsv @@ -320,7 +320,7 @@ en Mixed hearing impairment HP:0000410 rdfs:label de NOT_TRANSLATED en Protruding ear HP:0000411 rdfs:label de NOT_TRANSLATED en Atresia of the external auditory canal HP:0000413 rdfs:label de NOT_TRANSLATED en Bulbous nose HP:0000414 rdfs:label de NOT_TRANSLATED -en Abnormality of the choanae HP:0000415 rdfs:label de NOT_TRANSLATED +en Abnormal choanae morphology HP:0000415 rdfs:label de NOT_TRANSLATED en Slender nose HP:0000417 rdfs:label de NOT_TRANSLATED en Narrow nasal ridge HP:0000418 rdfs:label de NOT_TRANSLATED en Abnormal nasal septum morphology HP:0000419 rdfs:label de NOT_TRANSLATED @@ -569,7 +569,7 @@ en Frontal lobe dementia HP:0000727 rdfs:label de NOT_TRANSLATED en Impaired ability to form peer relationships HP:0000728 rdfs:label de NOT_TRANSLATED en Autistic behavior HP:0000729 rdfs:label de NOT_TRANSLATED en Inflexible adherence to routines HP:0000732 rdfs:label de NOT_TRANSLATED -en Abnormal repetitive mannerisms HP:0000733 rdfs:label de NOT_TRANSLATED +en Motor stereotypy HP:0000733 rdfs:label de NOT_TRANSLATED en Disinhibition HP:0000734 rdfs:label de NOT_TRANSLATED en Short attention span HP:0000736 rdfs:label de NOT_TRANSLATED en Irritability HP:0000737 rdfs:label de NOT_TRANSLATED @@ -1374,7 +1374,7 @@ en Reticulocytopenia HP:0001896 rdfs:label de NOT_TRANSLATED en Normocytic anemia HP:0001897 rdfs:label de NOT_TRANSLATED en Increased red blood cell mass HP:0001898 rdfs:label de NOT_TRANSLATED en Increased hematocrit HP:0001899 rdfs:label de NOT_TRANSLATED -en Increased hemoglobin HP:0001900 rdfs:label de NOT_TRANSLATED +en Increased circulating hemoglobin concentration HP:0001900 rdfs:label de NOT_TRANSLATED en Polycythemia HP:0001901 rdfs:label de NOT_TRANSLATED en Giant platelets HP:0001902 rdfs:label de NOT_TRANSLATED en Anemia HP:0001903 rdfs:label de NOT_TRANSLATED @@ -1986,7 +1986,6 @@ en Recurrent E. coli infections HP:0002740 rdfs:label de NOT_TRANSLATED en Recurrent Serratia marcescens infections HP:0002741 rdfs:label de NOT_TRANSLATED en Recurrent Klebsiella infections HP:0002742 rdfs:label de NOT_TRANSLATED en Recurrent enteroviral infections HP:0002743 rdfs:label de NOT_TRANSLATED -en Bilateral cleft lip and palate HP:0002744 rdfs:label de NOT_TRANSLATED en Oral leukoplakia HP:0002745 rdfs:label de NOT_TRANSLATED en Respiratory insufficiency due to muscle weakness HP:0002747 rdfs:label de NOT_TRANSLATED en Rickets HP:0002748 rdfs:label de NOT_TRANSLATED @@ -2482,7 +2481,7 @@ en Decreased sensory nerve conduction velocity HP:0003448 rdfs:label de NOT_TRA en Cold-induced muscle cramps HP:0003449 rdfs:label de NOT_TRANSLATED en Axonal regeneration HP:0003450 rdfs:label de NOT_TRANSLATED en Increased rate of premature chromosome condensation HP:0003451 rdfs:label de NOT_TRANSLATED -en Increased serum iron HP:0003452 rdfs:label de NOT_TRANSLATED +en Increased circulating iron concentration HP:0003452 rdfs:label de NOT_TRANSLATED en Antineutrophil antibody positivity HP:0003453 rdfs:label de NOT_TRANSLATED en Platelet antibody positive HP:0003454 rdfs:label de NOT_TRANSLATED en Elevated circulating long chain fatty acid concentration HP:0003455 rdfs:label de NOT_TRANSLATED @@ -2582,7 +2581,7 @@ en Juvenile onset HP:0003621 rdfs:label de NOT_TRANSLATED en Neonatal onset HP:0003623 rdfs:label de NOT_TRANSLATED en Amyoplasia HP:0003634 rdfs:label de NOT_TRANSLATED en Loss of subcutaneous adipose tissue in limbs HP:0003635 rdfs:label de NOT_TRANSLATED -en Reduced 4-Hydroxyphenylpyruvate dioxygenase level HP:0003637 rdfs:label de NOT_TRANSLATED +en Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity HP:0003637 rdfs:label de NOT_TRANSLATED en Elevated urinary epinephrine level HP:0003639 rdfs:label de NOT_TRANSLATED en CNS foam cells HP:0003640 rdfs:label de NOT_TRANSLATED en Hemoglobinuria HP:0003641 rdfs:label de NOT_TRANSLATED @@ -3104,7 +3103,7 @@ en Abnormal cheek morphology HP:0004426 rdfs:label de NOT_TRANSLATED en Elfin facies HP:0004428 rdfs:label de NOT_TRANSLATED en Recurrent viral infections HP:0004429 rdfs:label de NOT_TRANSLATED en Severe combined immunodeficiency HP:0004430 rdfs:label de NOT_TRANSLATED -en Complement deficiency HP:0004431 rdfs:label de NOT_TRANSLATED +en Reduced circulating complement concentration HP:0004431 rdfs:label de NOT_TRANSLATED en Agammaglobulinemia HP:0004432 rdfs:label de NOT_TRANSLATED en Secretory IgA deficiency HP:0004433 rdfs:label de NOT_TRANSLATED en Decreased circulating complement C8 concentration HP:0004434 rdfs:label de NOT_TRANSLATED @@ -3582,7 +3581,7 @@ en Depressed nasal bridge HP:0005280 rdfs:label de NOT_TRANSLATED en Hypoplastic nasal bridge HP:0005281 rdfs:label de NOT_TRANSLATED en Absent nasal bridge HP:0005285 rdfs:label de NOT_TRANSLATED en Abnormal nostril morphology HP:0005288 rdfs:label de NOT_TRANSLATED -en Abnormality of the nasolabial region HP:0005289 rdfs:label de NOT_TRANSLATED +en Abnormal nasolabial region morphology HP:0005289 rdfs:label de NOT_TRANSLATED en Internal carotid artery hypoplasia HP:0005290 rdfs:label de NOT_TRANSLATED en Inflammatory arteriopathy HP:0005291 rdfs:label de NOT_TRANSLATED en Intimal thickening in the coronary arteries HP:0005292 rdfs:label de NOT_TRANSLATED @@ -4185,13 +4184,13 @@ en Progressive leg bowing HP:0006409 rdfs:label de NOT_TRANSLATED en Broad tibial metaphyses HP:0006413 rdfs:label de NOT_TRANSLATED en Distal tibial bowing HP:0006414 rdfs:label de NOT_TRANSLATED en Cortically dense long tubular bones HP:0006415 rdfs:label de NOT_TRANSLATED -en Broad femoral metaphyses HP:0006417 rdfs:label de NOT_TRANSLATED +en Wide femoral metaphysis HP:0006417 rdfs:label de NOT_TRANSLATED en Asymmetric radial dysplasia HP:0006420 rdfs:label de NOT_TRANSLATED en Peg-like central prominence of distal tibial metaphyses HP:0006423 rdfs:label de NOT_TRANSLATED en Elongated radius HP:0006424 rdfs:label de NOT_TRANSLATED en Rudimentary to absent tibiae HP:0006426 rdfs:label de NOT_TRANSLATED en Broad femoral neck HP:0006429 rdfs:label de NOT_TRANSLATED -en Proximal femoral metaphyseal abnormality HP:0006431 rdfs:label de NOT_TRANSLATED +en Abnormal proximal femoral metaphysis morphology HP:0006431 rdfs:label de NOT_TRANSLATED en Trapezoidal distal femoral condyles HP:0006432 rdfs:label de NOT_TRANSLATED en Radial dysplasia HP:0006433 rdfs:label de NOT_TRANSLATED en Hypoplasia of proximal radius HP:0006434 rdfs:label de NOT_TRANSLATED @@ -5301,7 +5300,7 @@ en Lumbar kyphosis in infancy HP:0008414 rdfs:label de NOT_TRANSLATED en Six lumbar vertebrae HP:0008416 rdfs:label de NOT_TRANSLATED en Vertebral hypoplasia HP:0008417 rdfs:label de NOT_TRANSLATED en Squared-off platyspondyly HP:0008418 rdfs:label de NOT_TRANSLATED -en Intervertebral disc degeneration HP:0008419 rdfs:label de NOT_TRANSLATED +en Intervertebral disk degeneration HP:0008419 rdfs:label de NOT_TRANSLATED en Punctate vertebral calcifications HP:0008420 rdfs:label de NOT_TRANSLATED en Tall lumbar vertebral bodies HP:0008421 rdfs:label de NOT_TRANSLATED en Vertebral wedging HP:0008422 rdfs:label de NOT_TRANSLATED @@ -5365,9 +5364,7 @@ en Premature anterior fontanel closure HP:0008491 rdfs:label de NOT_TRANSLATED en Inferior lens subluxation HP:0008494 rdfs:label de NOT_TRANSLATED en Multiple rows of eyelashes HP:0008496 rdfs:label de NOT_TRANSLATED en Congenital craniofacial dysostosis HP:0008497 rdfs:label de NOT_TRANSLATED -en No permanent dentition HP:0008498 rdfs:label de NOT_TRANSLATED en High hypermetropia HP:0008499 rdfs:label de NOT_TRANSLATED -en Median cleft lip and palate HP:0008501 rdfs:label de NOT_TRANSLATED en Moderate sensorineural hearing impairment HP:0008504 rdfs:label de NOT_TRANSLATED en Static ophthalmoparesis HP:0008507 rdfs:label de NOT_TRANSLATED en Aged leonine appearance HP:0008509 rdfs:label de NOT_TRANSLATED @@ -5416,7 +5413,7 @@ en Abnormality of the stapes HP:0008628 rdfs:label de NOT_TRANSLATED en Pulsatile tinnitus HP:0008629 rdfs:label de NOT_TRANSLATED en Ureteral dysgenesis HP:0008631 rdfs:label de NOT_TRANSLATED en Agonadism HP:0008633 rdfs:label de NOT_TRANSLATED -en Hypertrophy of the urinary bladder HP:0008635 rdfs:label de NOT_TRANSLATED +en Urinary bladder wall hypertrophy HP:0008635 rdfs:label de NOT_TRANSLATED en Gonadal hypoplasia HP:0008639 rdfs:label de NOT_TRANSLATED en Congenital macroorchidism HP:0008640 rdfs:label de NOT_TRANSLATED en Nephroblastomatosis HP:0008643 rdfs:label de NOT_TRANSLATED @@ -6098,7 +6095,6 @@ en Abnormality of the vestibulocochlear nerve HP:0009591 rdfs:label de NOT_TRAN en Astrocytoma HP:0009592 rdfs:label de NOT_TRANSLATED en Peripheral schwannoma HP:0009593 rdfs:label de NOT_TRANSLATED en Retinal hamartoma HP:0009594 rdfs:label de NOT_TRANSLATED -en Occasional neurofibromas HP:0009595 rdfs:label de NOT_TRANSLATED en Aplasia of the proximal phalanx of the 2nd finger HP:0009596 rdfs:label de NOT_TRANSLATED en Short proximal phalanx of the 2nd finger HP:0009597 rdfs:label de NOT_TRANSLATED en Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal HP:0009598 rdfs:label de NOT_TRANSLATED @@ -6382,7 +6378,7 @@ en Ectopia pupillae HP:0009918 rdfs:label de NOT_TRANSLATED en Retinoblastoma HP:0009919 rdfs:label de NOT_TRANSLATED en Nevus of Ota HP:0009920 rdfs:label de NOT_TRANSLATED en Duane anomaly HP:0009921 rdfs:label de NOT_TRANSLATED -en Vascular remnant arising from the disc HP:0009922 rdfs:label de NOT_TRANSLATED +en Vascular remnant arising from the disk HP:0009922 rdfs:label de NOT_TRANSLATED en Aplasia/Hypoplasia involving the nose HP:0009924 rdfs:label de NOT_TRANSLATED en Epiphora HP:0009926 rdfs:label de NOT_TRANSLATED en Aplasia of the nose HP:0009927 rdfs:label de NOT_TRANSLATED @@ -7018,7 +7014,7 @@ en Irregular epiphyses HP:0010582 rdfs:label de NOT_TRANSLATED en Ivory epiphyses HP:0010583 rdfs:label de NOT_TRANSLATED en Pseudoepiphyses HP:0010584 rdfs:label de NOT_TRANSLATED en Small epiphyses HP:0010585 rdfs:label de NOT_TRANSLATED -en Triangular epiphyses HP:0010587 rdfs:label de NOT_TRANSLATED +en Triangular epiphysis HP:0010587 rdfs:label de NOT_TRANSLATED en Premature epimetaphyseal fusion HP:0010588 rdfs:label de NOT_TRANSLATED en Abnormality of the distal femoral epiphysis HP:0010590 rdfs:label de NOT_TRANSLATED en Abnormality of the proximal tibial epiphysis HP:0010591 rdfs:label de NOT_TRANSLATED @@ -7067,7 +7063,7 @@ en Schizencephaly HP:0010636 rdfs:label de NOT_TRANSLATED en Conjunctival amyloidosis HP:0010637 rdfs:label de NOT_TRANSLATED en Elevated alkaline phosphatase of hepatic origin HP:0010638 rdfs:label de NOT_TRANSLATED en Elevated alkaline phosphatase of bone origin HP:0010639 rdfs:label de NOT_TRANSLATED -en Abnormality of the nasal cavity HP:0010640 rdfs:label de NOT_TRANSLATED +en Abnormal nasal cavity morphology HP:0010640 rdfs:label de NOT_TRANSLATED en Abnormality of the midnasal cavity HP:0010641 rdfs:label de NOT_TRANSLATED en Midnasal atresia HP:0010643 rdfs:label de NOT_TRANSLATED en Midnasal stenosis HP:0010644 rdfs:label de NOT_TRANSLATED @@ -7511,12 +7507,12 @@ en Recurrent sinusitis HP:0011108 rdfs:label de NOT_TRANSLATED en Chronic sinusitis HP:0011109 rdfs:label de NOT_TRANSLATED en Recurrent tonsillitis HP:0011110 rdfs:label de NOT_TRANSLATED en Abnormal immune serum protein physiology HP:0011111 rdfs:label de NOT_TRANSLATED -en Abnormality of serum cytokine level HP:0011112 rdfs:label de NOT_TRANSLATED +en Abnormal circulating cytokine concentration HP:0011112 rdfs:label de NOT_TRANSLATED en Abnormality of cytokine secretion HP:0011113 rdfs:label de NOT_TRANSLATED en Defective production of NFKB1-dependent cytokines HP:0011114 rdfs:label de NOT_TRANSLATED -en Abnormality of chemokine secretion HP:0011115 rdfs:label de NOT_TRANSLATED -en Abnormality of interferon secretion HP:0011116 rdfs:label de NOT_TRANSLATED -en Abnormality of interleukin secretion HP:0011117 rdfs:label de NOT_TRANSLATED +en Abnormal circulating chemokine concentration HP:0011115 rdfs:label de NOT_TRANSLATED +en Abnormal circulating interferon concentration HP:0011116 rdfs:label de NOT_TRANSLATED +en Abnormal circulating interleukin concentration HP:0011117 rdfs:label de NOT_TRANSLATED en Abnormality of tumor necrosis factor secretion HP:0011118 rdfs:label de NOT_TRANSLATED en Abnormal nasal dorsum morphology HP:0011119 rdfs:label de NOT_TRANSLATED en Concave nasal ridge HP:0011120 rdfs:label de NOT_TRANSLATED @@ -8887,7 +8883,7 @@ en Upper limb pain HP:0012513 rdfs:label de NOT_TRANSLATED en Lower limb pain HP:0012514 rdfs:label de NOT_TRANSLATED en Hip flexor weakness HP:0012515 rdfs:label de NOT_TRANSLATED en Tetralogy of Fallot with pulmonary atresia HP:0012516 rdfs:label de NOT_TRANSLATED -en Reduced catalase level HP:0012517 rdfs:label de NOT_TRANSLATED +en Reduced circulating catalase activity HP:0012517 rdfs:label de NOT_TRANSLATED en Abnormal circle of Willis morphology HP:0012518 rdfs:label de NOT_TRANSLATED en Hypoplastic posterior communicating artery HP:0012519 rdfs:label de NOT_TRANSLATED en Dilation of Virchow-Robin spaces HP:0012520 rdfs:label de NOT_TRANSLATED @@ -9296,7 +9292,6 @@ en Increased red blood cell count HP:0020059 rdfs:label de NOT_TRANSLATED en Decreased red blood cell count HP:0020060 rdfs:label de NOT_TRANSLATED en Abnormal hemoglobin concentration HP:0020061 rdfs:label de NOT_TRANSLATED en Decreased hemoglobin concentration HP:0020062 rdfs:label de NOT_TRANSLATED -en Increased hemoglobin concentration HP:0020063 rdfs:label de NOT_TRANSLATED en Abnormal eosinophil count HP:0020064 rdfs:label de NOT_TRANSLATED en Viremia HP:0020071 rdfs:label de NOT_TRANSLATED en Persistent EBV viremia HP:0020072 rdfs:label de NOT_TRANSLATED @@ -9393,7 +9388,7 @@ en Decreased blood drug concentration HP:0020171 rdfs:label de NOT_TRANSLATED en Adverse drug response HP:0020172 rdfs:label de NOT_TRANSLATED en Reduced drug efficacy HP:0020173 rdfs:label de NOT_TRANSLATED en Refractory drug response HP:0020174 rdfs:label de NOT_TRANSLATED -en Reduced cholinesterase level HP:0020175 rdfs:label de NOT_TRANSLATED +en Reduced circulating cholinesterase activity HP:0020175 rdfs:label de NOT_TRANSLATED en Cholesterol crystalluria HP:0020176 rdfs:label de NOT_TRANSLATED en Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells HP:0020177 rdfs:label de NOT_TRANSLATED en Abnormal dendritic cell count HP:0020178 rdfs:label de NOT_TRANSLATED @@ -9420,7 +9415,7 @@ en Abnormal circulating 18-hydroxycorticosterone level HP:0020198 rdfs:label de en Decreased circulating 18-hydroxycortisone level HP:0020199 rdfs:label de NOT_TRANSLATED en Increased circulating 18-hydroxycortisone level HP:0020200 rdfs:label de NOT_TRANSLATED en Abnormal sarcomere morphology HP:0020201 rdfs:label de NOT_TRANSLATED -en Abnormal Z disc morphology HP:0020202 rdfs:label de NOT_TRANSLATED +en Abnormal Z disk morphology HP:0020202 rdfs:label de NOT_TRANSLATED en Z-band streaming HP:0020203 rdfs:label de NOT_TRANSLATED en Tubulointerstitial bacterial infiltration HP:0020204 rdfs:label de NOT_TRANSLATED en Tubulointerstitial fungal infiltration HP:0020205 rdfs:label de NOT_TRANSLATED @@ -10447,7 +10442,7 @@ en Hyperplastic callus formation HP:0030268 rdfs:label de NOT_TRANSLATED en Increased circulating insulin-like growth factor 1 concentration HP:0030269 rdfs:label de NOT_TRANSLATED en Elevated red cell adenosine deaminase activity HP:0030270 rdfs:label de NOT_TRANSLATED en Reduced erythrocyte 2,3-diphosphoglycerate concentration HP:0030271 rdfs:label de NOT_TRANSLATED -en Abnormal erythrocyte enzyme level HP:0030272 rdfs:label de NOT_TRANSLATED +en Abnormal erythrocyte enzyme concentration or activity HP:0030272 rdfs:label de NOT_TRANSLATED en Reduced red cell adenosine deaminase level HP:0030273 rdfs:label de NOT_TRANSLATED en Accessory scrotum HP:0030274 rdfs:label de NOT_TRANSLATED en Ectopic scrotum HP:0030275 rdfs:label de NOT_TRANSLATED @@ -10471,7 +10466,7 @@ en Metaphyseal chondromatosis of femur HP:0030295 rdfs:label de NOT_TRANSLATED en Metaphyseal chondromatosis of radius HP:0030296 rdfs:label de NOT_TRANSLATED en Metaphyseal chondromatosis of ulna HP:0030297 rdfs:label de NOT_TRANSLATED en Metaphyseal chondromatosis of humerus HP:0030298 rdfs:label de NOT_TRANSLATED -en Distal femoral metaphyseal abnormality HP:0030299 rdfs:label de NOT_TRANSLATED +en Abnormal distal femoral metaphysis morphology HP:0030299 rdfs:label de NOT_TRANSLATED en 10 pairs of ribs HP:0030300 rdfs:label de NOT_TRANSLATED en Abnormality of the anterior commissure HP:0030301 rdfs:label de NOT_TRANSLATED en Agenesis of the anterior commissure HP:0030302 rdfs:label de NOT_TRANSLATED @@ -10519,7 +10514,6 @@ en Erythematous papule HP:0030350 rdfs:label de NOT_TRANSLATED en Urticarial plaque HP:0030351 rdfs:label de NOT_TRANSLATED en Abnormal serum insulin-like growth factor 1 level HP:0030352 rdfs:label de NOT_TRANSLATED en Decreased serum insulin-like growth factor 1 HP:0030353 rdfs:label de NOT_TRANSLATED -en Abnormal circulating interferon concentration HP:0030354 rdfs:label de NOT_TRANSLATED en Abnormal circulating interferon-gamma concentration HP:0030355 rdfs:label de NOT_TRANSLATED en Increased circulating interferon-gamma concentration HP:0030356 rdfs:label de NOT_TRANSLATED en Small cell lung carcinoma HP:0030357 rdfs:label de NOT_TRANSLATED @@ -10921,7 +10915,6 @@ en Modic type III vertebral endplate changes HP:0030778 rdfs:label de NOT_TRANS en Ethmocephaly HP:0030779 rdfs:label de NOT_TRANSLATED en Abnormality of the protein C anticoagulant pathway HP:0030780 rdfs:label de NOT_TRANSLATED en Increased circulating free fatty acid level HP:0030781 rdfs:label de NOT_TRANSLATED -en Abnormal circulating interleukin concentration HP:0030782 rdfs:label de NOT_TRANSLATED en Increased circulating interleukin 6 concentration HP:0030783 rdfs:label de NOT_TRANSLATED en Anomic aphasia HP:0030784 rdfs:label de NOT_TRANSLATED en Mediastinal cystic lymphangioma HP:0030785 rdfs:label de NOT_TRANSLATED @@ -11223,7 +11216,7 @@ en Delayed vertebral ossification HP:0031096 rdfs:label de NOT_TRANSLATED en Abnormal thyroid-stimulating hormone level HP:0031097 rdfs:label de NOT_TRANSLATED en Decreased thyroid-stimulating hormone level HP:0031098 rdfs:label de NOT_TRANSLATED en Abnormal circulating inhibin level HP:0031099 rdfs:label de NOT_TRANSLATED -en Decreased inhibin B level HP:0031100 rdfs:label de NOT_TRANSLATED +en Decreased circulating inhibin B concentration HP:0031100 rdfs:label de NOT_TRANSLATED en Abnormal circulating antimullerian hormone concentration HP:0031101 rdfs:label de NOT_TRANSLATED en Increased circulating antimullerian hormone concentration HP:0031102 rdfs:label de NOT_TRANSLATED en Decreased cirrculating antimullerian hormone circulation HP:0031103 rdfs:label de NOT_TRANSLATED @@ -11256,7 +11249,7 @@ en Cor triatrium sinister HP:0031134 rdfs:label de NOT_TRANSLATED en Triggered by physical trauma HP:0031135 rdfs:label de NOT_TRANSLATED en Decreased acrosin in sperm head HP:0031136 rdfs:label de NOT_TRANSLATED en Storage in hepatocytes HP:0031137 rdfs:label de NOT_TRANSLATED -en Abnormal B-type natriuretic peptide concentration HP:0031138 rdfs:label de NOT_TRANSLATED +en Abnormal circulating B-type natriuretic peptide concentration HP:0031138 rdfs:label de NOT_TRANSLATED en Frog-leg posture HP:0031139 rdfs:label de NOT_TRANSLATED en Abnormal liver sonography HP:0031140 rdfs:label de NOT_TRANSLATED en Increased hepatic echogenicity HP:0031141 rdfs:label de NOT_TRANSLATED @@ -12331,7 +12324,6 @@ en Dural tail sign HP:0032268 rdfs:label de NOT_TRANSLATED en Lemon sign HP:0032269 rdfs:label de NOT_TRANSLATED en Optic nerve tram-track sign HP:0032270 rdfs:label de NOT_TRANSLATED en Extrapulmonary tuberculosis HP:0032271 rdfs:label de NOT_TRANSLATED -en Elevated urinary N-acetylaspartic acid level HP:0032272 rdfs:label de NOT_TRANSLATED en Increased circulating N-acetylaspartic acid concentration HP:0032273 rdfs:label de NOT_TRANSLATED en Increased CSF N-acetylaspartic acid concentration HP:0032274 rdfs:label de NOT_TRANSLATED en Recurrent shingles HP:0032275 rdfs:label de NOT_TRANSLATED @@ -12573,7 +12565,7 @@ en Exacerbated by acetylcholinesterase inhibitor exposure HP:0032525 rdfs:label en Ameliorated by acetylcholinesterase inhibitor HP:0032526 rdfs:label de NOT_TRANSLATED en Inferiorly positioned umbilicus HP:0032527 rdfs:label de NOT_TRANSLATED en Elevated urinary 4-hydroxybutyric acid HP:0032528 rdfs:label de NOT_TRANSLATED -en Decreased succinic semialdehyde dehydrogenase level HP:0032530 rdfs:label de NOT_TRANSLATED +en Decreased tissue succinic semialdehyde dehydrogenase activity HP:0032530 rdfs:label de NOT_TRANSLATED en Elevated CSF gamma-aminobutyric acid concentration HP:0032531 rdfs:label de NOT_TRANSLATED en Elevated CSF 4-hydroxybutyric acid concentration HP:0032532 rdfs:label de NOT_TRANSLATED en Elevated circulating acetone concentration HP:0032533 rdfs:label de NOT_TRANSLATED @@ -15014,7 +15006,7 @@ en Shoulder abduction contracture HP:0034990 rdfs:label de NOT_TRANSLATED en Shoulder external rotation contracture HP:0034991 rdfs:label de NOT_TRANSLATED en Thumb adduction contracture HP:0034992 rdfs:label de NOT_TRANSLATED en Hip internal rotation contracture HP:0034993 rdfs:label de NOT_TRANSLATED -en Reduced hepatic fructose-1,6-bisphosphatase activity HP:0034995 rdfs:label de NOT_TRANSLATED +en Reduced tissue fructose-1,6-bisphosphatase activity HP:0034995 rdfs:label de NOT_TRANSLATED en Reduced hepatic carbamoylphosphate synthetase 1 activity HP:0034996 rdfs:label de NOT_TRANSLATED en Reduced intraepidermal small nerve fiber density HP:0034997 rdfs:label de NOT_TRANSLATED en Femoral artery duplication HP:0034998 rdfs:label de NOT_TRANSLATED @@ -15096,7 +15088,7 @@ en Long lower eyelashes HP:0040053 rdfs:label de NOT_TRANSLATED en Short upper eyelashes HP:0040054 rdfs:label de NOT_TRANSLATED en Short lower eyelashes HP:0040055 rdfs:label de NOT_TRANSLATED en Absent upper eyelashes HP:0040056 rdfs:label de NOT_TRANSLATED -en Abnormality of nasal hair HP:0040057 rdfs:label de NOT_TRANSLATED +en Abnormal nasal hair morphology HP:0040057 rdfs:label de NOT_TRANSLATED en Calcification of ribs HP:0040059 rdfs:label de NOT_TRANSLATED en Osteosclerosis of the radius HP:0040061 rdfs:label de NOT_TRANSLATED en Slender radius HP:0040062 rdfs:label de NOT_TRANSLATED @@ -15154,7 +15146,7 @@ en Abnormal circulating vitamin B12 concentration HP:0040126 rdfs:label de NOT_ en Abnormal sweat homeostasis HP:0040127 rdfs:label de NOT_TRANSLATED en Abnormal sweat electrolytes HP:0040128 rdfs:label de NOT_TRANSLATED en Abnormal nerve conduction velocity HP:0040129 rdfs:label de NOT_TRANSLATED -en Abnormal serum iron concentration HP:0040130 rdfs:label de NOT_TRANSLATED +en Abnormal circulating iron concentration HP:0040130 rdfs:label de NOT_TRANSLATED en Abnormal motor nerve conduction velocity HP:0040131 rdfs:label de NOT_TRANSLATED en Abnormal sensory nerve conduction velocity HP:0040132 rdfs:label de NOT_TRANSLATED en Abnormal circulating ferritin concentration HP:0040133 rdfs:label de NOT_TRANSLATED @@ -15165,7 +15157,7 @@ en Mucinous histiocytosis HP:0040138 rdfs:label de NOT_TRANSLATED en Lipogranulomatosis HP:0040139 rdfs:label de NOT_TRANSLATED en Degeneration of the striatum HP:0040140 rdfs:label de NOT_TRANSLATED en Tardive dyskinesia HP:0040141 rdfs:label de NOT_TRANSLATED -en Reduced 5-oxoprolinase level HP:0040142 rdfs:label de NOT_TRANSLATED +en Reduced circulating 5-oxoprolinase activity HP:0040142 rdfs:label de NOT_TRANSLATED en Dystopic os odontoideum HP:0040143 rdfs:label de NOT_TRANSLATED en L-2-hydroxyglutaric aciduria HP:0040144 rdfs:label de NOT_TRANSLATED en Dicarboxylic acidemia HP:0040145 rdfs:label de NOT_TRANSLATED @@ -15314,7 +15306,7 @@ en Decreased circulating free fatty acid level HP:0040299 rdfs:label de NOT_TRA en Abnormal circulating free fatty acid concentration HP:0040300 rdfs:label de NOT_TRANSLATED en Increased urinary glycerol HP:0040301 rdfs:label de NOT_TRANSLATED en Hyperglycerolemia HP:0040302 rdfs:label de NOT_TRANSLATED -en Decreased serum iron HP:0040303 rdfs:label de NOT_TRANSLATED +en Decreased circulating iron concentration HP:0040303 rdfs:label de NOT_TRANSLATED en Duplication of the sella turcica HP:0040304 rdfs:label de NOT_TRANSLATED en Increased male libido HP:0040305 rdfs:label de NOT_TRANSLATED en Decreased male libido HP:0040306 rdfs:label de NOT_TRANSLATED @@ -16493,7 +16485,7 @@ en Narrow foramen obturatorium HP:0100958 rdfs:label de NOT_TRANSLATED en Dense metaphyseal bands HP:0100959 rdfs:label de NOT_TRANSLATED en Lateral ventricular asymmetry HP:0100960 rdfs:label de NOT_TRANSLATED en Enlarged hippocampus HP:0100961 rdfs:label de NOT_TRANSLATED -en Shyness HP:0100962 rdfs:label de NOT_TRANSLATED +en Excessive shyness HP:0100962 rdfs:label de NOT_TRANSLATED en Hyperesthesia HP:0100963 rdfs:label de NOT_TRANSLATED en Dysharmonic skeletal maturation HP:0200000 rdfs:label de NOT_TRANSLATED en Dysharmonic accelerated bone age HP:0200001 rdfs:label de NOT_TRANSLATED @@ -16708,13 +16700,12 @@ en Decreased glucose-6-phosphate dehydrogenase level in red blood cells HP:04101 en Increased glucose-6-phosphate dehydrogenase level in red blood cells HP:0410189 rdfs:label de NOT_TRANSLATED en Decreased glucose-6-phosphate dehydrogenase level in leukocytes HP:0410190 rdfs:label de NOT_TRANSLATED en Increased glucose-6-phosphate dehydrogenase level in leukocytes HP:0410191 rdfs:label de NOT_TRANSLATED -en Abnormal uridine diphosphate glucose-4-epimerase level HP:0410192 rdfs:label de NOT_TRANSLATED -en Abnormal uridine diphosphate glucose-4-epimerase level in plasma HP:0410193 rdfs:label de NOT_TRANSLATED -en Increased uridine diphosphate glucose-4-epimerase level in plasma HP:0410194 rdfs:label de NOT_TRANSLATED -en Decreased uridine diphosphate glucose-4-epimerase level in plasma HP:0410195 rdfs:label de NOT_TRANSLATED -en Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells HP:0410196 rdfs:label de NOT_TRANSLATED -en Increased uridine diphosphate glucose-4-epimerase level in red blood cells HP:0410197 rdfs:label de NOT_TRANSLATED -en Decreased uridine diphosphate glucose-4-epimerase level in red blood cells HP:0410198 rdfs:label de NOT_TRANSLATED +en Abnormal circulating UDP glucose-4-epimerase concentration HP:0410193 rdfs:label de NOT_TRANSLATED +en Increased circulating UDP glucose-4-epimerase concentration HP:0410194 rdfs:label de NOT_TRANSLATED +en Decreased circulating UDP glucose-4-epimerase concentration HP:0410195 rdfs:label de NOT_TRANSLATED +en Abnormal erythrocyte UDP glucose-4-epimerase concentration HP:0410196 rdfs:label de NOT_TRANSLATED +en Increased erythrocyte UDP glucose-4-epimerase concentration HP:0410197 rdfs:label de NOT_TRANSLATED +en Decreased erythrocyte UDP glucose-4-epimerase concentration HP:0410198 rdfs:label de NOT_TRANSLATED en Increased CSF urate concentration HP:0410199 rdfs:label de NOT_TRANSLATED en Positive meconium barbiturate test HP:0410200 rdfs:label de NOT_TRANSLATED en Positive hair barbiturate test HP:0410201 rdfs:label de NOT_TRANSLATED @@ -17046,6 +17037,14 @@ en Positive CSF pathogen-specific antibody positivity HP:0430139 rdfs:label de en Positive CSF nucleic acid pathogen test HP:0430140 rdfs:label de NOT_TRANSLATED en Positive CSF varicella zoster antibody positivity HP:0430141 rdfs:label de NOT_TRANSLATED en Reduced circulating interleukin 6 concentration HP:0430142 rdfs:label de NOT_TRANSLATED +en Elevated circulating C12 acylcarnitine concentration HP:0430143 rdfs:label de NOT_TRANSLATED +en Frontalis muscle overactivity HP:0430144 rdfs:label de NOT_TRANSLATED +en Nasal dermoid cyst HP:0430145 rdfs:label de NOT_TRANSLATED +en Elevated circulating complement C3 concentration HP:0430146 rdfs:label de NOT_TRANSLATED +en Abnormal circulating inhibin B concentration HP:0430147 rdfs:label de NOT_TRANSLATED +en Abnormal circulating lipoprotein(a) concentration HP:0430148 rdfs:label de NOT_TRANSLATED +en Positive blood infectious agent test HP:0430150 rdfs:label de NOT_TRANSLATED +en Positive respiratory tract infectious agent test HP:0430151 rdfs:label de NOT_TRANSLATED en Body odor HP:0500001 rdfs:label de NOT_TRANSLATED en Anal pain HP:0500005 rdfs:label de NOT_TRANSLATED en Urethritis HP:0500006 rdfs:label de NOT_TRANSLATED @@ -17280,7 +17279,7 @@ en Verruca plana HP:0550004 rdfs:label de NOT_TRANSLATED en Bilateral basilar pulmonary fibrosis HP:0550005 rdfs:label de NOT_TRANSLATED en Abnormal inner ear epithelium morphology HP:3000002 rdfs:label de NOT_TRANSLATED en Abnormal mandibular ramus morphology HP:3000003 rdfs:label de NOT_TRANSLATED -en Abnormality of frontalis muscle belly HP:3000004 rdfs:label de NOT_TRANSLATED +en Abnormal frontalis muscle physiology HP:3000004 rdfs:label de NOT_TRANSLATED en Abnormality of masseter muscle HP:3000005 rdfs:label de NOT_TRANSLATED en Abnormality of medial pterygoid muscle HP:3000006 rdfs:label de NOT_TRANSLATED en Abnormality of mentalis muscle HP:3000007 rdfs:label de NOT_TRANSLATED @@ -17380,7 +17379,7 @@ en Anti-laminin gamma1 antibody positivity HP:4000023 rdfs:label de NOT_TRANSLA en Anti-laminin antibody positivity HP:4000024 rdfs:label de NOT_TRANSLATED en Anti-integrin antibody positivity HP:4000025 rdfs:label de NOT_TRANSLATED en Anti-transglutaminase 6 antibody HP:4000026 rdfs:label de NOT_TRANSLATED -en anti-LAD-1 antibody positivity HP:4000027 rdfs:label de NOT_TRANSLATED +en Anti-LAD-1 antibody positivity HP:4000027 rdfs:label de NOT_TRANSLATED en Anti-LABD97 antibody positivity HP:4000028 rdfs:label de NOT_TRANSLATED en Antigliadin antibody positivity HP:4000029 rdfs:label de NOT_TRANSLATED en Anti-reticulin antibody positivity HP:4000030 rdfs:label de NOT_TRANSLATED @@ -17613,9 +17612,9 @@ en Ambiguous facial expression HP:5200013 rdfs:label de NOT_TRANSLATED en Exaggerated facial expression HP:5200014 rdfs:label de NOT_TRANSLATED en Muted facial expression HP:5200015 rdfs:label de NOT_TRANSLATED en Abnormal peer relationships HP:5200016 rdfs:label de NOT_TRANSLATED -en Abnormal movements of face and head HP:5200017 rdfs:label de NOT_TRANSLATED -en Abnormal movements of the upper extremities HP:5200018 rdfs:label de NOT_TRANSLATED -en Abnormal movements of the whole body HP:5200019 rdfs:label de NOT_TRANSLATED +en Steroetypic movements of face and head HP:5200017 rdfs:label de NOT_TRANSLATED +en Steroetypic upper-extremity movements HP:5200018 rdfs:label de NOT_TRANSLATED +en Stereotypic whole-body movements HP:5200019 rdfs:label de NOT_TRANSLATED en Abnormal interest in others HP:5200020 rdfs:label de NOT_TRANSLATED en Reduced social insight HP:5200021 rdfs:label de NOT_TRANSLATED en Reduced awareness of convention HP:5200022 rdfs:label de NOT_TRANSLATED @@ -17627,7 +17626,7 @@ en Social disinhibition HP:5200029 rdfs:label de NOT_TRANSLATED en Diminished integration of verbal and non-verbal communicative behavior HP:5200030 rdfs:label de NOT_TRANSLATED en Reduced cooperative imaginative play HP:5200035 rdfs:label de NOT_TRANSLATED en Reduced responsiveness to verbal cues HP:5200036 rdfs:label de NOT_TRANSLATED -en Lack of expressed empath HP:5200037 rdfs:label de NOT_TRANSLATED +en Lack of expressed empathy HP:5200037 rdfs:label de NOT_TRANSLATED en Bradylalia HP:5200038 rdfs:label de NOT_TRANSLATED en Excessively loud speech HP:5200039 rdfs:label de NOT_TRANSLATED en Excessively quiet voice HP:5200040 rdfs:label de NOT_TRANSLATED @@ -17717,7 +17716,7 @@ en Hypervigilance HP:5200231 rdfs:label de NOT_TRANSLATED en Phobia HP:5200232 rdfs:label de NOT_TRANSLATED en Anticipatory anxiety HP:5200233 rdfs:label de NOT_TRANSLATED en Flight of ideas HP:5200234 rdfs:label de NOT_TRANSLATED -en Thought disorder HP:5200235 rdfs:label de NOT_TRANSLATED +en Disorganized speech or communication HP:5200235 rdfs:label de NOT_TRANSLATED en Pronunciation difficulties HP:5200237 rdfs:label de NOT_TRANSLATED en Vowel expressive impediment HP:5200238 rdfs:label de NOT_TRANSLATED en Consonant expressive impediment HP:5200239 rdfs:label de NOT_TRANSLATED @@ -18063,7 +18062,7 @@ en Prosthetic heart valve HP:6000227 rdfs:label de NOT_TRANSLATED en Failure to increase oxygen saturation on hyperoxia test HP:6000228 rdfs:label de NOT_TRANSLATED en High-set nipples HP:6000229 rdfs:label de NOT_TRANSLATED en Decreased muscle caveolin-3 level HP:6000230 rdfs:label de NOT_TRANSLATED -en Abnormal tissue enzyme activity HP:6000231 rdfs:label de NOT_TRANSLATED +en Abnormal tissue enzyme concentration or activity HP:6000231 rdfs:label de NOT_TRANSLATED en Splenic necrosis HP:6000232 rdfs:label de NOT_TRANSLATED en Carcinoid tumor of the pancreas HP:6000233 rdfs:label de NOT_TRANSLATED en Elevated circulating dihydroxyphenylacetic acid concentration HP:6000234 rdfs:label de NOT_TRANSLATED @@ -18281,5 +18280,250 @@ en Elevated thallium cadmiun concentration HP:6000445 rdfs:label de NOT_TRANSLA en Abnormal circulating CC chemokine concentration HP:6000446 rdfs:label de NOT_TRANSLATED en Decreased CSF asialotransferrin to transferrin ratio HP:6000447 rdfs:label de NOT_TRANSLATED en Anti-desmocollin antibody positivity HP:6000448 rdfs:label de NOT_TRANSLATED +en Occupational exposure to raw nonsynthetic textiles HP:6000449 rdfs:label de NOT_TRANSLATED +en Rokitansky-Aschoff gallbladder sinuses HP:6000450 rdfs:label de NOT_TRANSLATED +en Porcelain gallbladder HP:6000451 rdfs:label de NOT_TRANSLATED +en Gallbladder adhesions HP:6000452 rdfs:label de NOT_TRANSLATED +en Bilioduodenal fistula HP:6000453 rdfs:label de NOT_TRANSLATED +en Pneumobilia HP:6000454 rdfs:label de NOT_TRANSLATED +en Ectopic gallstone HP:6000455 rdfs:label de NOT_TRANSLATED +en Sleep drunkeness HP:6000456 rdfs:label de NOT_TRANSLATED +en Mallory bodies HP:6000457 rdfs:label de NOT_TRANSLATED +en Sulfur-containing abscess HP:6000458 rdfs:label de NOT_TRANSLATED +en Retracted tympanic membrane HP:6000459 rdfs:label de NOT_TRANSLATED +en Ectopic testis HP:6000460 rdfs:label de NOT_TRANSLATED +en Cerebral subcortical cyst HP:6000461 rdfs:label de NOT_TRANSLATED +en Anti-ADAMTS13 antibody positivity HP:6000462 rdfs:label de NOT_TRANSLATED +en Habitual mouth breathing HP:6000463 rdfs:label de NOT_TRANSLATED +en Squared off shoulders HP:6000464 rdfs:label de NOT_TRANSLATED +en Elevated urine mesaconic acid level HP:6000465 rdfs:label de NOT_TRANSLATED +en Elevated urine 3-methyladipic acid level HP:6000466 rdfs:label de NOT_TRANSLATED +en Elevated urine D-lactate level HP:6000467 rdfs:label de NOT_TRANSLATED +en Elevated CSF alpha-ketoglutarate concentration HP:6000468 rdfs:label de NOT_TRANSLATED +en Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level HP:6000469 rdfs:label de NOT_TRANSLATED +en Fetal oral mass HP:6000470 rdfs:label de NOT_TRANSLATED +en Dilated ejaculatory duct HP:6000471 rdfs:label de NOT_TRANSLATED +en Decreased Wiskott-Aldrich syndrome protein concentration in hematopoietic cells HP:6000472 rdfs:label de NOT_TRANSLATED +en Decreased FOXP3-expressing T cell count HP:6000473 rdfs:label de NOT_TRANSLATED +en Elevated circulating complement component concentration HP:6000474 rdfs:label de NOT_TRANSLATED +en Anti-beta fodrin antibody positivity HP:6000475 rdfs:label de NOT_TRANSLATED +en Elevated circulating tetradecenoylcarnitine concentration HP:6000476 rdfs:label de NOT_TRANSLATED +en Elevated urine 2-trans,4-cis-decadienoylcarnitine level HP:6000477 rdfs:label de NOT_TRANSLATED +en Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration HP:6000478 rdfs:label de NOT_TRANSLATED +en Elevated urine N-acetyltyrosine level HP:6000479 rdfs:label de NOT_TRANSLATED +en Elevated urine manganese level HP:6000480 rdfs:label de NOT_TRANSLATED +en Reduced urinary manganese level HP:6000481 rdfs:label de NOT_TRANSLATED +en Decreased circulating catecholamine concentration HP:6000482 rdfs:label de NOT_TRANSLATED +en Empty sella turcica HP:6000483 rdfs:label de NOT_TRANSLATED +en Elevated brain guanidinoacetate level by MRS HP:6000484 rdfs:label de NOT_TRANSLATED +en Elevated circulating beta chorionic gonadotropin concentration HP:6000485 rdfs:label de NOT_TRANSLATED +en Elevated circulating CXCL10 concentration HP:6000486 rdfs:label de NOT_TRANSLATED +en Reduced circulating interleukin 12 concentration HP:6000487 rdfs:label de NOT_TRANSLATED +en Reduced circulating fibroblast growth factor 23 concentration HP:6000488 rdfs:label de NOT_TRANSLATED +en Abnormal circulating fibroblast growth factor 23 concentration HP:6000489 rdfs:label de NOT_TRANSLATED +en Impaired heel-walking ability HP:6000490 rdfs:label de NOT_TRANSLATED +en Anti-prothrombin antibody positivity HP:6000491 rdfs:label de NOT_TRANSLATED +en Anti-factor V antibody positivity HP:6000492 rdfs:label de NOT_TRANSLATED +en Anti-factor VII antibody positivity HP:6000493 rdfs:label de NOT_TRANSLATED +en Anti-factor VIII antibody positivity HP:6000494 rdfs:label de NOT_TRANSLATED +en Anti-factor IX antibody positivity HP:6000495 rdfs:label de NOT_TRANSLATED +en Anti-factor X antibody positivity HP:6000496 rdfs:label de NOT_TRANSLATED +en Anti-factor XI antibody positivity HP:6000497 rdfs:label de NOT_TRANSLATED +en Anti-factor XIII antibody positivity HP:6000498 rdfs:label de NOT_TRANSLATED +en Anti-factor H antibody positivity HP:6000499 rdfs:label de NOT_TRANSLATED +en Extremities cold to touch HP:6000500 rdfs:label de NOT_TRANSLATED +en Ruffled acrosome HP:6000501 rdfs:label de NOT_TRANSLATED +en Elevated circulating calprotectin concentration HP:6000502 rdfs:label de NOT_TRANSLATED +en 4-5 toe cutaneous syndactyly HP:6000503 rdfs:label de NOT_TRANSLATED +en Poly-hill sign HP:6000504 rdfs:label de NOT_TRANSLATED +en 3-5 finger cutaneous syndactyly HP:6000505 rdfs:label de NOT_TRANSLATED +en Radioulnar subluxation HP:6000506 rdfs:label de NOT_TRANSLATED +en Non-pitting edema HP:6000507 rdfs:label de NOT_TRANSLATED +en Anti-human ferritin peptide antibody positivity HP:6000508 rdfs:label de NOT_TRANSLATED +en Elevated CSF L-2-hydroxyglutaric acid concentration HP:6000509 rdfs:label de NOT_TRANSLATED +en Elevated erythrocyte inosine triphosphate concentration HP:6000510 rdfs:label de NOT_TRANSLATED +en Reduced erythrocyte inosine triphosphatase activity HP:6000511 rdfs:label de NOT_TRANSLATED +en Reduced circulating alpha-1,3-fucosyltransferase activity HP:6000512 rdfs:label de NOT_TRANSLATED +en Diminished neutrophil myeloperoxidase activity HP:6000513 rdfs:label de NOT_TRANSLATED +en Reduced erythrocyte uroporphyrinogen III cosynthase activity HP:6000514 rdfs:label de NOT_TRANSLATED +en Elevated 18-hydroxycorticosterone to aldosterone ratio HP:6000515 rdfs:label de NOT_TRANSLATED +en Elevated circulating 21-deoxycortisol concentration HP:6000516 rdfs:label de NOT_TRANSLATED +en Elevated monolysocardiolipin/cardiolipin ratio HP:6000517 rdfs:label de NOT_TRANSLATED +en Low maternal vitamin B12 concentration HP:6000518 rdfs:label de NOT_TRANSLATED +en Elevated circulating inhibin A concentration HP:6000519 rdfs:label de NOT_TRANSLATED +en Increased circulating inhibin B concentration HP:6000520 rdfs:label de NOT_TRANSLATED +en Elevated circulating lipoprotein(a) concentration HP:6000521 rdfs:label de NOT_TRANSLATED +en Reduced circulating lipoprotein(a) concentration HP:6000522 rdfs:label de NOT_TRANSLATED +en Increased urinary bile acid level HP:6000523 rdfs:label de NOT_TRANSLATED +en Abnormal urinary bile acid level HP:6000524 rdfs:label de NOT_TRANSLATED +en Reduced erythrocyte glutathione reductase activity HP:6000525 rdfs:label de NOT_TRANSLATED +en Failure to elevate lactate upon ischemic exercise test HP:6000526 rdfs:label de NOT_TRANSLATED +en Elevated circulating cholestanol concentration HP:6000527 rdfs:label de NOT_TRANSLATED +en Livestock exposure HP:6000528 rdfs:label de NOT_TRANSLATED +en Synchronous skin lesions HP:6000529 rdfs:label de NOT_TRANSLATED +en Serpentine skin location HP:6000530 rdfs:label de NOT_TRANSLATED +en Abnormal urinary organic compound level HP:6000531 rdfs:label de NOT_TRANSLATED +en Elevated urinary histamine level HP:6000532 rdfs:label de NOT_TRANSLATED +en Elevated urinary N-methylhistamine level HP:6000533 rdfs:label de NOT_TRANSLATED +en Elevated urinary ureidopropionic acid level HP:6000534 rdfs:label de NOT_TRANSLATED +en Elevated urinary porphyrin level HP:6000535 rdfs:label de NOT_TRANSLATED +en Elevated urinary coproporphyrin level HP:6000536 rdfs:label de NOT_TRANSLATED +en Ecrrine sweat gland predominance HP:6000537 rdfs:label de NOT_TRANSLATED +en Poorly demarcated skin lesion HP:6000538 rdfs:label de NOT_TRANSLATED +en History of recent cat bite HP:6000539 rdfs:label de NOT_TRANSLATED +en History of recent stay in area with inadequate sewage sanitation HP:6000540 rdfs:label de NOT_TRANSLATED +en Positive cutaneous herpes simplex virus nucleic acid test HP:6000541 rdfs:label de NOT_TRANSLATED +en Positive CSF mycobacterium tuberculosis nucleic acid test HP:6000542 rdfs:label de NOT_TRANSLATED +en Posiitive mycobacterium CSF culture HP:6000543 rdfs:label de NOT_TRANSLATED +en Positive mycobacterium CSF microscopy HP:6000544 rdfs:label de NOT_TRANSLATED +en Positive treponema pallidum PCR test in the blood circulation HP:6000545 rdfs:label de NOT_TRANSLATED +en Positive human Immunodeficiency virus nucleic acid test in the blood circulation HP:6000546 rdfs:label de NOT_TRANSLATED +en Positive CSF enterovirus nucleic acid test HP:6000547 rdfs:label de NOT_TRANSLATED +en Positive CSF Borrelia burgdorferi nucleic acid test HP:6000548 rdfs:label de NOT_TRANSLATED +en Positive CSF arbovirus nucleic acid test HP:6000549 rdfs:label de NOT_TRANSLATED +en Positive Bartonella henselae nucleic acid test in the blood circulation HP:6000550 rdfs:label de NOT_TRANSLATED +en Positive Dengue virus PCR test in the blood circulation HP:6000551 rdfs:label de NOT_TRANSLATED +en Positive CSF JC-virus nucleic acid test HP:6000552 rdfs:label de NOT_TRANSLATED +en Bloodstream Malaria parasite HP:6000553 rdfs:label de NOT_TRANSLATED +en Positive bloodstream plasmodium falciparum nucleic acid pathogen test HP:6000554 rdfs:label de NOT_TRANSLATED +en Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity HP:6000555 rdfs:label de NOT_TRANSLATED +en Reduced circulating dopamine beta-hydroxylase activity HP:6000556 rdfs:label de NOT_TRANSLATED +en Reduced erythrocyte bisphosphoglycerate mutase activity HP:6000557 rdfs:label de NOT_TRANSLATED +en Reduced erythrocyte adenylate kinase activity HP:6000558 rdfs:label de NOT_TRANSLATED +en Reduced erythrocyte hexokinase activity HP:6000559 rdfs:label de NOT_TRANSLATED +en Decreased circulating carboxypeptidase N activity HP:6000560 rdfs:label de NOT_TRANSLATED +en Elevated red cell pyruvate kinase activity HP:6000561 rdfs:label de NOT_TRANSLATED +en Reduced circulating adenosine deaminase-2 activity HP:6000562 rdfs:label de NOT_TRANSLATED +en Reduced sepiapterin reductase activity in cultured fibroblasts HP:6000563 rdfs:label de NOT_TRANSLATED +en Elevated circulating vasoactive intestinal peptide concentration HP:6000564 rdfs:label de NOT_TRANSLATED +en Elevated circulating cholesterol sulfate concentration HP:6000565 rdfs:label de NOT_TRANSLATED +en Elevated circulating lipoprotein X concentration HP:6000566 rdfs:label de NOT_TRANSLATED +en Elevated circulating oxalate concentration HP:6000567 rdfs:label de NOT_TRANSLATED +en Elevated blood ethylene glycol concentration HP:6000568 rdfs:label de NOT_TRANSLATED +en Midline notching of lower lip HP:6000569 rdfs:label de NOT_TRANSLATED +en Reduced tissue thymidine phosphorylase activity HP:6000570 rdfs:label de NOT_TRANSLATED +en Reduced tissue tripeptidyl peptidase 1 activity HP:6000571 rdfs:label de NOT_TRANSLATED +en Reduced tissue arginine:glycine amidinotransferase activity HP:6000572 rdfs:label de NOT_TRANSLATED +en Reduced tissue aspartylglucosaminidase activity HP:6000573 rdfs:label de NOT_TRANSLATED +en Reduced tissue carnitine-acylcarnitine translocase activity HP:6000574 rdfs:label de NOT_TRANSLATED +en Reduced circulating 6-pyruvoyltetrahydropterin synthase activity HP:6000575 rdfs:label de NOT_TRANSLATED +en Reduced tissue mannosyl-oligosaccharide glucosidase activity HP:6000576 rdfs:label de NOT_TRANSLATED +en Reduced tissue 3-methylglutaconyl-CoA hydratase activity HP:6000577 rdfs:label de NOT_TRANSLATED +en Reduced tissue gamma-glutamyltransferase activity HP:6000578 rdfs:label de NOT_TRANSLATED +en Positive oropharangeal infectious agent test HP:6000579 rdfs:label de NOT_TRANSLATED +en Positive oropharynx poliovirus nucleic acid test HP:6000580 rdfs:label de NOT_TRANSLATED +en Positive synonvial fluid infectious agent test HP:6000581 rdfs:label de NOT_TRANSLATED +en Positive synonvial fluid culture HP:6000582 rdfs:label de NOT_TRANSLATED +en Positive synovial fluid gram stain HP:6000583 rdfs:label de NOT_TRANSLATED +en Anti Parvovirus antibody positivity HP:6000584 rdfs:label de NOT_TRANSLATED +en Brain parenchymal tuberculoma HP:6000585 rdfs:label de NOT_TRANSLATED +en Muscle arteriovenous malformation HP:6000586 rdfs:label de NOT_TRANSLATED +en Bone arteriovenous malformation HP:6000587 rdfs:label de NOT_TRANSLATED +en Periosteal elevation HP:6000588 rdfs:label de NOT_TRANSLATED +en Esophageal dilation HP:6000589 rdfs:label de NOT_TRANSLATED +en Spinal lipoma HP:6000590 rdfs:label de NOT_TRANSLATED +en Loose body in joint HP:6000591 rdfs:label de NOT_TRANSLATED +en Paraspinal arteriovenous malformation HP:6000592 rdfs:label de NOT_TRANSLATED +en Supernumerary tarsal bone HP:6000593 rdfs:label de NOT_TRANSLATED +en Maxillary cyst HP:6000594 rdfs:label de NOT_TRANSLATED +en Mandibular cyst HP:6000595 rdfs:label de NOT_TRANSLATED +en Sixth cranial nerve hypoplasia HP:6000596 rdfs:label de NOT_TRANSLATED +en Third cranial nerve hypoplasia HP:6000597 rdfs:label de NOT_TRANSLATED +en Elevated urinary succinylacetone level HP:6000598 rdfs:label de NOT_TRANSLATED +en Elevated urinary 2-oxoisocaproic level HP:6000599 rdfs:label de NOT_TRANSLATED +en Elevated urinary 2-oxovaleric acid level HP:6000600 rdfs:label de NOT_TRANSLATED +en Elevated urinary 2-hydroxyisocaproic acid level HP:6000601 rdfs:label de NOT_TRANSLATED +en Elevated urinary isovalerylglycine level HP:6000602 rdfs:label de NOT_TRANSLATED +en Elevated urinary 2-methyl-3-hydroxybutyric acid level HP:6000603 rdfs:label de NOT_TRANSLATED +en Elevated urinary 3-hydroxypentanoic acid level HP:6000604 rdfs:label de NOT_TRANSLATED +en Elevated urinary 7-hydroxyoctanoic acid level HP:6000605 rdfs:label de NOT_TRANSLATED +en Elevated urinary D-glyceric acid level HP:6000606 rdfs:label de NOT_TRANSLATED +en Elevated urinary 3-hydroxyisobutyric acid level HP:6000607 rdfs:label de NOT_TRANSLATED +en Elevated urinary 3,4-Dihydroxybutyric acid level HP:6000608 rdfs:label de NOT_TRANSLATED +en Elevated urinary 3-hydroxyadipic acid level HP:6000609 rdfs:label de NOT_TRANSLATED +en Elevated erythrocyte galactose-1-phosphate concentration HP:6000610 rdfs:label de NOT_TRANSLATED +en Elevated circulating chitotriosidase activity HP:6000611 rdfs:label de NOT_TRANSLATED +en Squamosal suture synostosis HP:6000612 rdfs:label de NOT_TRANSLATED +en Enlarged fetal lungs HP:6000613 rdfs:label de NOT_TRANSLATED +en Orbital inflammation HP:6000614 rdfs:label de NOT_TRANSLATED +en Reduced Inositol polyphosphate 5-phosphatase OCRL-1 activity in cultured fibroblasts HP:6000615 rdfs:label de NOT_TRANSLATED +en Reduced muscle glycogen debrancher enzyme activity HP:6000616 rdfs:label de NOT_TRANSLATED +en Reduced tissue UDP-glucuronyl-transferase activity HP:6000617 rdfs:label de NOT_TRANSLATED +en Temporal artery giant cells HP:6000618 rdfs:label de NOT_TRANSLATED +en Reduced phosphoenolpyruvate carboxykinase activity in cultured fibroblasts HP:6000619 rdfs:label de NOT_TRANSLATED +en Elevated urinary pyrroline hydroxycarboxylic acid level HP:6000620 rdfs:label de NOT_TRANSLATED +en Elevated urinary N-tau-ribosylhistidine level HP:6000621 rdfs:label de NOT_TRANSLATED +en Elevated urinary ureidoisobutyric acid level HP:6000622 rdfs:label de NOT_TRANSLATED +en Elevated urinary N-carbamyl-beta-aminoisobutyric acid level HP:6000623 rdfs:label de NOT_TRANSLATED +en Nipple epidermal Paget cells HP:6000624 rdfs:label de NOT_TRANSLATED +en Penile corporal blood gas ischemia HP:6000625 rdfs:label de NOT_TRANSLATED +en Recent temporal region trauma HP:6000626 rdfs:label de NOT_TRANSLATED +en Rest limb pain HP:6000627 rdfs:label de NOT_TRANSLATED +en Scalloped appearance of liver surface HP:6000628 rdfs:label de NOT_TRANSLATED +en Nipple thickening HP:6000629 rdfs:label de NOT_TRANSLATED +en Hypoechoic breast mass HP:6000630 rdfs:label de NOT_TRANSLATED +en Unilocular ovarian cyst HP:6000631 rdfs:label de NOT_TRANSLATED +en Mesenteric torsion HP:6000632 rdfs:label de NOT_TRANSLATED +en High-pitched bowel sounds HP:6000633 rdfs:label de NOT_TRANSLATED +en Exacerbated by opiate medication HP:6000634 rdfs:label de NOT_TRANSLATED +en Breast granuloma HP:6000635 rdfs:label de NOT_TRANSLATED +en Exposure to cosmetic fragrances HP:6000636 rdfs:label de NOT_TRANSLATED +en Sweating and flushing in the preauricular area in response to mastication HP:6000637 rdfs:label de NOT_TRANSLATED +en Reduced hepatic glyoxylate reductase activity HP:6000638 rdfs:label de NOT_TRANSLATED +en PAS-positive lymphocyte vacuolization HP:6000639 rdfs:label de NOT_TRANSLATED +en Lipid-laden bone-marrow macrophages HP:6000640 rdfs:label de NOT_TRANSLATED +en Bone marrow monocytosis HP:6000641 rdfs:label de NOT_TRANSLATED +en Sunflower cataract HP:6000642 rdfs:label de NOT_TRANSLATED +en Anti-lamin A antibody positivity HP:6000643 rdfs:label de NOT_TRANSLATED +en Anti-lamin C antibody positivity HP:6000644 rdfs:label de NOT_TRANSLATED +en Anti-vinculin antibody positivity HP:6000645 rdfs:label de NOT_TRANSLATED +en Anti-annexin A5 antibody positivity HP:6000646 rdfs:label de NOT_TRANSLATED +en Bulging fontanelle HP:6000647 rdfs:label de NOT_TRANSLATED +en 3-4 toe cutaneous syndactyly HP:6000648 rdfs:label de NOT_TRANSLATED +en Triangular nail HP:6000649 rdfs:label de NOT_TRANSLATED +en Distal tibiofibular synostosis HP:6000650 rdfs:label de NOT_TRANSLATED +en Abnormal metacarpal ossification HP:6000651 rdfs:label de NOT_TRANSLATED +en Rib spur HP:6000652 rdfs:label de NOT_TRANSLATED +en Crescent-shaped iliac bone HP:6000653 rdfs:label de NOT_TRANSLATED +en Abnormal ischium ossification HP:6000654 rdfs:label de NOT_TRANSLATED +en Femoral neck fracture HP:6000655 rdfs:label de NOT_TRANSLATED +en Papillary dermis eosinophilic hyaline material HP:6000656 rdfs:label de NOT_TRANSLATED +en Pancreatic intraductal papillary mucinous neoplasm HP:6000657 rdfs:label de NOT_TRANSLATED +en Medium vessel vasculitis HP:6000658 rdfs:label de NOT_TRANSLATED +en Elevated muscle fiber laminin alpha 5 expression HP:6000659 rdfs:label de NOT_TRANSLATED +en Paravertebral mass HP:6000660 rdfs:label de NOT_TRANSLATED +en Phlebolith HP:6000661 rdfs:label de NOT_TRANSLATED +en Bladder rupture HP:6000662 rdfs:label de NOT_TRANSLATED +en Elevated myocardial iron load HP:6000663 rdfs:label de NOT_TRANSLATED +en Right ventricular regional wall motion abnormality HP:6000664 rdfs:label de NOT_TRANSLATED +en Right ventricular regional akinesia HP:6000665 rdfs:label de NOT_TRANSLATED +en Right ventricular regional dyskinesia HP:6000666 rdfs:label de NOT_TRANSLATED +en Right ventricular aneurysm HP:6000667 rdfs:label de NOT_TRANSLATED +en Glomerular immune-complex deposition HP:6000668 rdfs:label de NOT_TRANSLATED +en Glomerular PLA2R immune-complex deposition HP:6000669 rdfs:label de NOT_TRANSLATED +en Elevated urinary L-glycerate level HP:6000670 rdfs:label de NOT_TRANSLATED +en Breast myxoma HP:6000671 rdfs:label de NOT_TRANSLATED +en Ovarian cystadenoma HP:6000672 rdfs:label de NOT_TRANSLATED +en Abnormal CSF N-acetylaspartic acid concentration HP:6000673 rdfs:label de NOT_TRANSLATED +en Decreased CSF N-acetylaspartic acid concentration HP:6000674 rdfs:label de NOT_TRANSLATED +en Elevated urinary mevalonate lactone level HP:6000675 rdfs:label de NOT_TRANSLATED +en Anti-von Willebrand factor antibody positivity HP:6000676 rdfs:label de NOT_TRANSLATED +en Elevated natural killer cell count HP:6000677 rdfs:label de NOT_TRANSLATED +en Myositis-specific autoantibody positivity HP:6000678 rdfs:label de NOT_TRANSLATED +en Abnormal serum osmolality HP:6000679 rdfs:label de NOT_TRANSLATED +en Low serum osmolality HP:6000680 rdfs:label de NOT_TRANSLATED +en High serum osmolality HP:6000681 rdfs:label de NOT_TRANSLATED +en History of compressive dressings HP:6000682 rdfs:label de NOT_TRANSLATED +en Triggered by overhead motions HP:6000683 rdfs:label de NOT_TRANSLATED +en Radiating pain HP:6000684 rdfs:label de NOT_TRANSLATED +en Mitral opening snap HP:6000685 rdfs:label de NOT_TRANSLATED +en Mucus in stool HP:6000686 rdfs:label de NOT_TRANSLATED +en Elevated circulating CCL3 concentration HP:6000687 rdfs:label de NOT_TRANSLATED +en Elevated circulating CCL4 concentration HP:6000688 rdfs:label de NOT_TRANSLATED +en Elevated CSF 14-3-3 protein concentration HP:6000689 rdfs:label de NOT_TRANSLATED +en Elevated CSF dihydrobiopterin concentration HP:6000690 rdfs:label de NOT_TRANSLATED +en Left atrial fibrosis HP:6000691 rdfs:label de NOT_TRANSLATED +en Abnormal circulating atrial natriuretic peptide pro-hormone concentration HP:6000692 rdfs:label de NOT_TRANSLATED +en Reduced circulating NT-proANP concentration HP:6000693 rdfs:label de NOT_TRANSLATED en inheres in RO:0000052 rdfs:label de NOT_TRANSLATED en inheres in part of RO:0002314 rdfs:label de NOT_TRANSLATED diff --git a/src/translations/hp-de.babelon.owl b/src/translations/hp-de.babelon.owl index 4901c5754..3bc71114a 100644 --- a/src/translations/hp-de.babelon.owl +++ b/src/translations/hp-de.babelon.owl @@ -7,8 +7,8 @@ xmlns:xsd="http://www.w3.org/2001/XMLSchema#" xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#"> - - 2024-03-06 + + 2024-04-03 diff --git a/src/translations/hp-de.synonyms.owl b/src/translations/hp-de.synonyms.owl index cd5cc74b7..6ecc105fd 100644 --- a/src/translations/hp-de.synonyms.owl +++ b/src/translations/hp-de.synonyms.owl @@ -7,8 +7,8 @@ xmlns:xsd="http://www.w3.org/2001/XMLSchema#" xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#"> - - 2024-03-06 + + 2024-04-03 diff --git a/src/translations/hp-dtp.babelon.owl b/src/translations/hp-dtp.babelon.owl index 64ef470da..d3666860d 100644 --- a/src/translations/hp-dtp.babelon.owl +++ b/src/translations/hp-dtp.babelon.owl @@ -9,8 +9,8 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:babelon="https://w3id.org/babelon/"> - - 2024-03-06 + + 2024-04-03 diff --git a/src/translations/hp-es-changed.babelon.tsv b/src/translations/hp-es-changed.babelon.tsv index 0184c77af..35ad4f086 100644 --- a/src/translations/hp-es-changed.babelon.tsv +++ b/src/translations/hp-es-changed.babelon.tsv @@ -27,6 +27,7 @@ en es HP:0000363 Abnormality of earlobe rdfs:label Anomalía del lóbulo de la o en es HP:0000372 Abnormality of the auditory canal rdfs:label Anomalía del conducto auditivo OFFICIAL en es HP:0000377 Abnormality of the pinna rdfs:label Anomalía del pabellón auricular OFFICIAL en es HP:0000383 Abnormality of periauricular region rdfs:label Anomalía de la región periauricular OFFICIAL +en es HP:0000415 Abnormality of the choanae rdfs:label Anomalía de las coanas OFFICIAL en es HP:0000419 Abnormality of the nasal septum rdfs:label Anomalía del tabique nasal OFFICIAL en es HP:0000422 Abnormality of the nasal bridge rdfs:label Anomalía del puente nasal OFFICIAL en es HP:0000429 Abnormality of the nasal alae rdfs:label Anomalía del alas nasales OFFICIAL @@ -101,6 +102,7 @@ en es HP:0001760 Abnormality of the foot rdfs:label Anomalía del pie OFFICIAL en es HP:0001780 Abnormality of toe rdfs:label Anomalía del dedo del pie OFFICIAL en es HP:0001844 Abnormality of the hallux rdfs:label Anomalía del dedo gordo del pie OFFICIAL en es HP:0001872 Abnormal thrombocyte morphology rdfs:label Alteración de las plaquetas OFFICIAL +en es HP:0001900 Increased hemoglobin rdfs:label Aumento de la hemoglobina OFFICIAL en es HP:0001965 Abnormality of the scalp rdfs:label Anomalía del cuero cabelludo OFFICIAL en es HP:0001966 Mesangial abnormality rdfs:label Anomalía mesangial OFFICIAL en es HP:0001969 Tubulointerstitial abnormality rdfs:label Anomalía tubulointersticial OFFICIAL @@ -156,6 +158,7 @@ en es HP:0002693 Abnormality of the skull base rdfs:label Anomalía de la base d en es HP:0002695 Symmetrical, oval parietal bone defects rdfs:label Defectos óseos parietales ovales, simétricos OFFICIAL en es HP:0002699 Abnormality of the foramen magnum rdfs:label Anomalía del agujero occipital OFFICIAL en es HP:0002733 Abnormality of the lymph nodes rdfs:label Anomalía de los ganglios linfáticos OFFICIAL +en es HP:0002744 Bilateral cleft lip and palate rdfs:label Hendidura de labio y paladar bilateral OFFICIAL en es HP:0002761 Generalized joint laxity rdfs:label Laxitud articular generalizada OFFICIAL en es HP:0002778 Abnormal trachea morphology rdfs:label Alteración de la tráquea OFFICIAL en es HP:0002795 Functional respiratory abnormality rdfs:label Alteración respiratoria funcional OFFICIAL @@ -209,6 +212,7 @@ en es HP:0003366 Abnormality of the femoral neck or head region rdfs:label Anoma en es HP:0003367 Abnormality of the femoral neck rdfs:label Anomalía del cuello femoral OFFICIAL en es HP:0003368 Abnormality of the femoral head rdfs:label Anomalía de la cabeza femoral OFFICIAL en es HP:0003375 Narrow greater sacrosciatic notches rdfs:label Estrechamiento de las hendiduras sacrociáticas mayores OFFICIAL +en es HP:0003452 Increased serum iron rdfs:label Aumento de hierro sérico OFFICIAL en es HP:0003474 Sensory impairment rdfs:label Deterioro sensorial OFFICIAL en es HP:0003528 Elevated calcitonin rdfs:label Calcitonina elevada OFFICIAL en es HP:0003530 Glutaric acidemia rdfs:label Acidemia glutárica OFFICIAL @@ -256,6 +260,7 @@ en es HP:0004372 Reduced consciousness/confusion rdfs:label Conciencia reducida en es HP:0004376 Neuroblastic tumors rdfs:label Tumores neuroblásticos OFFICIAL en es HP:0004379 Abnormality of alkaline phosphatase activity rdfs:label Anomalía de la actividad de la fosfatasa alcalina OFFICIAL en es HP:0004426 Abnormality of the cheek rdfs:label Anomalía de las mejillas OFFICIAL +en es HP:0004431 Complement deficiency rdfs:label Deficiencia del complemento OFFICIAL en es HP:0004434 C8 deficiency rdfs:label Deficiencia de C8 OFFICIAL en es HP:0004466 Prolonged brainstem auditory evoked potentials rdfs:label Potenciales evocados auditivos de tronco cerebral prolongados OFFICIAL en es HP:0004495 Thin anteverted nares rdfs:label Narinas antevertidas estrechas OFFICIAL @@ -276,6 +281,7 @@ en es HP:0005262 Abnormality of the synovia rdfs:label Anomalía del líquido si en es HP:0005265 Abnormality of the jejunum rdfs:label Anomalía del yeyuno OFFICIAL en es HP:0005268 Spontaneous abortion rdfs:label Aborto espontáneo OFFICIAL en es HP:0005288 Abnormality of the nares rdfs:label Anomalía de las fosas nasales OFFICIAL +en es HP:0005289 Abnormality of the nasolabial region rdfs:label Anomalía de la región nasolabial OFFICIAL en es HP:0005347 Cartilaginous trachea rdfs:label Tráquea cartilaginosa OFFICIAL en es HP:0005356 Decreased serum complement factor I rdfs:label Disminución sérica del factor I del complemento OFFICIAL en es HP:0005369 Decreased serum complement factor H rdfs:label Disminución sérica del factor H del complemento OFFICIAL @@ -325,6 +331,8 @@ en es HP:0006315 Single median maxillary incisor rdfs:label Incisivo superior me en es HP:0006336 Short dental roots rdfs:label Raíces dentales cortas OFFICIAL en es HP:0006344 Abnormality of primary molar morphology rdfs:label Anomalía de la morfología molar OFFICIAL en es HP:0006350 Obliteration of the pulp chamber rdfs:label Obliteración de la cámara de la pulpa dental OFFICIAL +en es HP:0006417 Broad femoral metaphyses rdfs:label Metáfisis femorales anchas OFFICIAL +en es HP:0006431 Proximal femoral metaphyseal abnormality rdfs:label Anomalías metafisaria de fémur distal y proximal OFFICIAL en es HP:0006433 Dysplastic radii rdfs:label Radios displásicos OFFICIAL en es HP:0006436 Shortening of the tibia rdfs:label Acortamiento de la tibia OFFICIAL en es HP:0006477 Abnormality of the alveolar ridges rdfs:label Anomalía de los rebordes alveolares OFFICIAL @@ -399,10 +407,14 @@ en es HP:0008365 Abnormality of the talus rdfs:label Anomalía del astrágalo OF en es HP:0008366 Contractures involving the joints of the feet rdfs:label Contracturas que afectan las articulaciones de los pies OFFICIAL en es HP:0008372 Abnormality of vitamin A metabolism rdfs:label Anomalía del metabolismo de la vitamina a OFFICIAL en es HP:0008376 Nasal, dysarthic speech rdfs:label Discurso disártrico nasal OFFICIAL +en es HP:0008419 Intervertebral disc degeneration rdfs:label Degeneración del disco intervertebral OFFICIAL en es HP:0008443 Spinal deformities rdfs:label Deformidades de la columna vertebral OFFICIAL +en es HP:0008498 No permanent dentition rdfs:label Ausencia de dentición permanente OFFICIAL +en es HP:0008501 Median cleft lip and palate rdfs:label Hendidura central de labio y paladar OFFICIAL en es HP:0008519 Abnormality of the coccyx rdfs:label Anomalía del coxis OFFICIAL en es HP:0008572 External ear malformation rdfs:label Malformación del oído externo OFFICIAL en es HP:0008609 Morphological abnormality of the middle ear rdfs:label Anomalía morfológica del oído medio OFFICIAL +en es HP:0008635 Hypertrophy of the urinary bladder rdfs:label Hipertrofia de la vejiga urinaria OFFICIAL en es HP:0008636 Lobular glomerulopathy rdfs:label Glomerulopatía lobular OFFICIAL en es HP:0008682 Acute tubular necrosis rdfs:label Necrosis tubular aguda OFFICIAL en es HP:0008744 Abnormality of the aryepiglottic fold rdfs:label Alteración del pliegue ariepiglótico OFFICIAL @@ -425,6 +437,7 @@ en es HP:0009112 Absent left hemidiaphragm rdfs:label Hemidiafragma izquierdo au en es HP:0009380 Aplasia of the fingers rdfs:label Aplasia de los dedos de la mano OFFICIAL en es HP:0009495 Pseudoepiphyses of the 2nd finger rdfs:label Pseudoepífisis del segundo dedo de la mano OFFICIAL en es HP:0009554 Projection of scalp hair onto lateral cheek rdfs:label Proyección de pelo del cuero cabelludo en el lateral de la mejilla OFFICIAL +en es HP:0009595 Occasional neurofibromas rdfs:label Neurofibromas ocasionales OFFICIAL en es HP:0009600 Flexion contracture of thumb rdfs:label Contractura en flexión del pulgar OFFICIAL en es HP:0009624 Contractures of the carpometacarpal joint of the thumb rdfs:label Contracturas de la articulación carpometacarpiana del pulgar OFFICIAL en es HP:0009625 Contractures of the metacarpophalangeal joint of the thumb rdfs:label Contracturas de la articulación metacarpofalángica del pulgar OFFICIAL @@ -439,6 +452,7 @@ en es HP:0009804 Reduced number of teeth rdfs:label Reducción del número de di en es HP:0009809 Abnormality of upper limb metaphysis rdfs:label Anomalía de metáfisis del miembro superior OFFICIAL en es HP:0009896 Abnormality of the antitragus rdfs:label Anomalía del antitragus OFFICIAL en es HP:0009912 Abnormality of the tragus rdfs:label Anomalía del trago OFFICIAL +en es HP:0009922 Vascular remnant arising from the disc rdfs:label Persistencia de la arteria hialoidea OFFICIAL en es HP:0009929 Abnormality of the columella rdfs:label Anomalía de la columela OFFICIAL en es HP:0010009 Abnormality of the 1st metacarpal rdfs:label Anomalía del primer metacarpiano OFFICIAL en es HP:0010010 Abnormality of the 2nd metacarpal rdfs:label Anomalía del segundo metacarpiano OFFICIAL @@ -469,10 +483,12 @@ en es HP:0010530 Palatal myoclonus rdfs:label Mioclono palatino OFFICIAL en es HP:0010569 Elevated 7-dehydrocholesterol rdfs:label 7-dehidrocolesterol elevado OFFICIAL en es HP:0010570 Low maternal serum alpha-fetoprotein rdfs:label Alfa-fetoproteína disminuída en suero materno OFFICIAL en es HP:0010571 Elevated levels of phytanic acid rdfs:label Niveles elevados de ácido fitánico OFFICIAL +en es HP:0010587 Triangular epiphyses rdfs:label Epífisis triangulares OFFICIAL en es HP:0010593 Abnormality of fibular epiphyses rdfs:label Anomalía de las epífisis de peroné OFFICIAL en es HP:0010600 Abnormality of the distal ulnar epiphysis rdfs:label Anomalía de la epífisis distal del cúbito OFFICIAL en es HP:0010601 Abnormality of the proximal ulnar epiphysis rdfs:label Anomalía de la epífisis cubital proximal OFFICIAL en es HP:0010630 Abnormality of metatarsal epiphysis rdfs:label Anomalía de epífisis de los metatarsianos OFFICIAL +en es HP:0010640 Abnormality of the nasal cavity rdfs:label Anomalía de la cavidad nasal OFFICIAL en es HP:0010663 Abnormality of thalamus morphology rdfs:label Alteración en la morfología del tálamo OFFICIAL en es HP:0010668 Abnormality of the zygomatic bone rdfs:label Anomalía del hueso cigomático OFFICIAL en es HP:0010674 Abnormality of the curvature of the vertebral column rdfs:label Anomalía de la curvatura de la columna vertebral OFFICIAL @@ -531,6 +547,10 @@ en es HP:0011094 Overbite rdfs:label Sobremordida OFFICIAL en es HP:0011097 Epileptic spasms rdfs:label Espasmos epilépticos OFFICIAL en es HP:0011110 Tonsillitis rdfs:label Amigdalitis OFFICIAL en es HP:0011111 Abnormality of immune serum protein physiology rdfs:label Alteración de la función de proteínas séricas inmunitarias OFFICIAL +en es HP:0011112 Abnormality of serum cytokine level rdfs:label Alteración del nivel de citoquinas en suero OFFICIAL +en es HP:0011115 Abnormality of chemokine secretion rdfs:label Alteración de la secreción de quimioquinas OFFICIAL +en es HP:0011116 Abnormality of interferon secretion rdfs:label Alteración de la secreción de interferón OFFICIAL +en es HP:0011117 Abnormality of interleukin secretion rdfs:label Alteración de la secreción de interleuquina OFFICIAL en es HP:0011119 Abnormality of the nasal dorsum rdfs:label Anomalía del dorso nasal OFFICIAL en es HP:0011121 Abnormality of skin morphology rdfs:label Anomalía de la morfología de la piel OFFICIAL en es HP:0011124 Abnormality of epidermal morphology rdfs:label Anomalía de la morfología de la epidermis OFFICIAL @@ -672,17 +692,20 @@ en es HP:0012868 Sperm tail anomaly rdfs:label Anomalía en la cola de los esper en es HP:0012880 Abnormality of the labia minora rdfs:label Anomalía de los labios menores OFFICIAL en es HP:0012881 Abnormality of the labia majora rdfs:label Anomalía de los labios mayores OFFICIAL en es HP:0012888 Abnormality of the uterine cervix rdfs:label Anomalía del cuello uterino OFFICIAL +en es HP:0020063 Increased hemoglobin concentration rdfs:label Aumento de la concentración de hemoglobina. OFFICIAL en es HP:0020098 Herpes encephalitis rdfs:label Encefalitis herpética OFFICIAL en es HP:0020112 Elevated proportion of CD4+CD25+ regulatory T cells rdfs:label Proporción elevada de células T reguladoras CD4 + CD25 + OFFICIAL en es HP:0020113 Reduced proportion of CD4+CD25+ regulatory T cells rdfs:label Proporción reducida de células T reguladoras CD4 + CD25 + OFFICIAL en es HP:0020150 Elevated urinary uromodulin rdfs:label Aumento de uromodulina en orina OFFICIAL en es HP:0020151 Anti-DNA antibody positivity rdfs:label Anticuerpos anti-ADN positivos OFFICIAL en es HP:0020152 Distal joint laxity rdfs:label Laxitud articular distal OFFICIAL +en es HP:0020175 Reduced cholinesterase level rdfs:label Disminución del nivel de colinesterasa OFFICIAL en es HP:0020179 Abnormal haptoglobin level rdfs:label Nivel de haptoglobina anormal OFFICIAL en es HP:0020182 Abnormal A-type atrial natriuretic peptide level rdfs:label Nivel anormal de péptido natriurético auricular tipo A OFFICIAL en es HP:0020183 Increased circulating A-type natriuretic peptide level rdfs:label Aumento del nivel de péptido natriurético de tipo A circulante OFFICIAL en es HP:0020184 Decreased circulating A-type natriuretic peptide level rdfs:label Disminución del nivel de péptido natriurético de tipo A circulante OFFICIAL en es HP:0020197 Increased circulating arachidonic acid level rdfs:label Aumento del nivel de ácido araquidónico circulante OFFICIAL +en es HP:0020202 Abnormal Z disc morphology rdfs:label Morfología anormal del disco Z OFFICIAL en es HP:0020217 Focal motor aware seizure rdfs:label Convulsión focal motora sin pérdida de conciencia OFFICIAL en es HP:0025028 Abnormality of enteric nervous system morphology rdfs:label Anomalía de la morfología del sistema nervioso entérico OFFICIAL en es HP:0025029 Abnormality of enteric neuron morphology rdfs:label Anomalía de la morfología de la neurona entérica OFFICIAL @@ -751,6 +774,7 @@ en es HP:0030269 Increased serum insulin-like growth factor 1 rdfs:label Aumento en es HP:0030272 Abnormal erythrocyte enzyme activity rdfs:label Actividad enzimática eritrocítica anormal OFFICIAL en es HP:0030273 Reduced red cell adenosine deaminase activity rdfs:label Disminución de la actividad de adenosina desaminasa de glóbulos rojos OFFICIAL en es HP:0030276 Small scrotum rdfs:label Escroto pequeño OFFICIAL +en es HP:0030299 Distal femoral metaphyseal abnormality rdfs:label Anomalía metafisaria femoral distal OFFICIAL en es HP:0030338 Abnormal circulating gonadotropin level rdfs:label Nivel anormal de gonadotropina circulante OFFICIAL en es HP:0030339 Decreased circulating gonadotropin level rdfs:label Disminución del nivel circulante de gonadotropinas OFFICIAL en es HP:0030341 Decreased circulating follicle stimulating hormone level rdfs:label Disminución de la hormona estimulante del folículo circulante (FSH) OFFICIAL @@ -801,6 +825,7 @@ en es HP:0031040 Late spermatogenesis maturation arrest rdfs:label Detención de en es HP:0031068 Increased femoral torsion rdfs:label Aumento de la torsión femoral OFFICIAL en es HP:0031070 Decreased femoral torsion rdfs:label Disminución de la torsión femoral OFFICIAL en es HP:0031085 Decreased prealbumin level rdfs:label Disminución del nivel de prealbúmina OFFICIAL +en es HP:0031100 Decreased inhibin B level rdfs:label Disminución del nivel de inhibina B OFFICIAL en es HP:0031101 Abnormal antimullerian hormone level rdfs:label Nivel anormal de hormona antimulleriana OFFICIAL en es HP:0031102 Increased antimullerian hormone level rdfs:label Aumento del nivel de hormona antimulleriana OFFICIAL en es HP:0031103 Decreased antimullerian hormone level rdfs:label Disminución del nivel de hormona antimulleriana OFFICIAL @@ -871,6 +896,7 @@ en es HP:0032212 Increased urinary sqamous epithelial cell count rdfs:label Aume en es HP:0032218 Reduced proportion of CD4 T cells rdfs:label Disminución de la proporción de células T CD4 OFFICIAL en es HP:0032219 Increased proportion of CD4 T cells rdfs:label Aumento de la proporción de células T CD4 OFFICIAL en es HP:0032235 Anti-La/SSA antibody positivity rdfs:label Anticuerpos anti-La / SSA positivos OFFICIAL +en es HP:0032272 Elevated urinary N-acetylaspartic acid level rdfs:label Aumento de la concentración de ácido N-acetilaspártico urinario OFFICIAL en es HP:0032296 Increased circulating IgG subtype rdfs:label Elevación del subtipo de IgG circulante OFFICIAL en es HP:0032304 Abnormal mannose-binding protein level rdfs:label Nivel anormal de proteína de unión a manosa OFFICIAL en es HP:0032305 Decreased mannose-binding protein level rdfs:label Disminución del nivel de proteína de unión a manosa OFFICIAL @@ -987,12 +1013,14 @@ en es HP:0034889 Positive urine infectious agent nucleid acid test rdfs:label Pr en es HP:0034933 Increased circulating ribitol concentration rdfs:label Aumento de la concentración circulante de ribitol OFFICIAL en es HP:0034983 Phenylephrine does not induce blanching of eye redness rdfs:label Ausencia de la respuesta de la fenilefrina a mejorar el enrojecimiento de los ojos. OFFICIAL en es HP:0034994 Elevated circulating saccharopine concentration rdfs:label Aumento de la concentración de sacaropina circulante OFFICIAL +en es HP:0034995 Reduced hepatic fructose-1,6-bisphosphatase activity rdfs:label Disminución de la actividad de la fructosa-1,6-bisfosfatasa hepática OFFICIAL en es HP:0034996 Reduced hepatic carbamoylphosphate synthetase activity rdfs:label Disminución de la actividad de la carbamoilfosfato sintetasa hepática. OFFICIAL en es HP:0040021 Radial deviation of the thumb rdfs:label Desviación radial del pulgar OFFICIAL en es HP:0040045 Abnormality of the hemidiaphragms rdfs:label Anomalía de los hemidiafragmas OFFICIAL en es HP:0040046 Abnormality of the left hemidiaphragm rdfs:label Anomalía del hemidiafragma izquierdo OFFICIAL en es HP:0040047 Abnormality of the right hemidiaphragm rdfs:label Anomalía del hemidiafragma derecho OFFICIAL en es HP:0040048 Aplasia of the left hemidiaphragm rdfs:label Aplasia del hemidiafragma izquierdo OFFICIAL +en es HP:0040057 Abnormality of nasal hair rdfs:label Anomalía del pelo nasal OFFICIAL en es HP:0040065 Abnormal morphology of bones of the upper limbs rdfs:label Morfología anormal de los huesos de las extremidades superiores OFFICIAL en es HP:0040066 Abnormal morphology of bones of the lower limbs rdfs:label Morfología anormal de los huesos de las extremidades inferiores OFFICIAL en es HP:0040072 Abnormality of forearm bone rdfs:label Anomalía de huesos del antebrazo OFFICIAL @@ -1008,6 +1036,7 @@ en es HP:0040111 Bilateral external ear deformity rdfs:label Deformidad bilatera en es HP:0040115 Abnormality of the Eustachian tube rdfs:label Anomalía de la trompa de Eustaquio OFFICIAL en es HP:0040124 Patent tuba eustachii rdfs:label Trompa de Eustaquio abierta o persistente OFFICIAL en es HP:0040126 Abnormal vitamin B12 level rdfs:label Nivel anormal de vitamina B12 OFFICIAL +en es HP:0040130 Abnormal serum iron concentration rdfs:label Hierro sérico anormal OFFICIAL en es HP:0040133 Abnormal serum ferritin rdfs:label Ferritina sérica anormal OFFICIAL en es HP:0040142 Reduced 5-oxoprolinase activity rdfs:label Deficiencia de 5-oxoprolinasa OFFICIAL en es HP:0040166 Abnormality of the periosteum rdfs:label Anomalía del periostio OFFICIAL @@ -1025,6 +1054,7 @@ en es HP:0040268 Recurrent infections of the middle ear rdfs:label Infecciones r en es HP:0040278 Prolactinoma rdfs:label Prolactinoma OFFICIAL en es HP:0040286 Abnormality of axial muscles rdfs:label Anomalía de los músculos axiales OFFICIAL en es HP:0040290 Abnormality of skeletal muscles rdfs:label Anomalía de los músculos esqueléticos OFFICIAL +en es HP:0040303 Decreased serum iron rdfs:label Disminución del hierro sérico OFFICIAL en es HP:0040311 Symetrical distal arthritis rdfs:label Artritis distal simétrica OFFICIAL en es HP:0040323 Erythema of the eyelids rdfs:label Eritema de los párpados OFFICIAL en es HP:0041053 Fractured head rdfs:label Fractura de cabeza OFFICIAL @@ -1088,6 +1118,7 @@ en es HP:0100871 Abnormality of the palm rdfs:label Anomalía de la palma de la en es HP:0100889 Abnormality of the ductus choledochus rdfs:label Anomalía del colédoco OFFICIAL en es HP:0100950 Decreased activity of 3-hydroxyacyl-CoA dehydrogenase rdfs:label Deficiencia de cadena larga 3 hidroxiacil coa deshidrogenasa OFFICIAL en es HP:0100960 Asymmetric ventricles rdfs:label Ventrículos cerebrales asimétricos OFFICIAL +en es HP:0100962 Shyness rdfs:label Timidez OFFICIAL en es HP:0200000 Dysharmonic bone age rdfs:label Edad ósea disarmónica OFFICIAL en es HP:0200095 Anterior open bite rdfs:label Mordida abierta anterior OFFICIAL en es HP:0410000 Abnormality of vomer rdfs:label Anomalía de vomer OFFICIAL @@ -1157,6 +1188,7 @@ en es HP:0500159 Increased level of circulating aspartic acid rdfs:label Aumento en es HP:0500161 Increased level of carnosine in blood rdfs:label Aumento del nivel de carnosina en sangre OFFICIAL en es HP:0500162 Decreased level of carnosine in blood rdfs:label Disminución del nivel de carnosina en sangre OFFICIAL en es HP:0500166 Abnormal circulating gastrin level rdfs:label Nivel de gastrina circulante anormal OFFICIAL +en es HP:3000004 Abnormality of frontalis muscle belly rdfs:label Anomalía del músculo frontal OFFICIAL en es HP:3000013 Abnormality of platysma rdfs:label Anomalía del músculo cutáneo del cuello OFFICIAL en es HP:3000019 Abnormality of buccal mucosa rdfs:label Anomalía de la mucosa bucal OFFICIAL en es HP:3000021 Abnormality of buccal fat pad rdfs:label Anomalía de la almohadilla grasa bucal OFFICIAL @@ -1199,6 +1231,9 @@ en es HP:5000006 Anti-CV2/CRMP5 antibody rdfs:label Anticuerpo anti-CV2/CRMP5 OF en es HP:5000026 Anti-neurexin-3alpha antibody rdfs:label Anticuerpo anti-neurexina-3alfa OFFICIAL en es HP:5000041 Anti-CRMP5 antibody positivity rdfs:label Positividad de anticuerpos anti-CRMP5 OFFICIAL en es HP:5000045 Anti-MuSK antibody positivity rdfs:label Positividad de anticuerpos anti-MuSK OFFICIAL +en es HP:5200017 Abnormal movements of face and head rdfs:label Movimientos anormales de la cara y la cabeza. OFFICIAL +en es HP:5200018 Abnormal movements of the upper extremities rdfs:label Movimientos anormales de las extremidades superiores OFFICIAL +en es HP:5200019 Abnormal movements of the whole body rdfs:label Movimientos anormales de todo el cuerpo OFFICIAL en es HP:5200026 Abnormal social imitation rdfs:label Imitación social anormal OFFICIAL en es HP:5200027 Reduced attempt to get or direct another's attention rdfs:label Disminución de la intención de llamar o dirigir la atención de otra persona. OFFICIAL en es HP:5200028 Reduced response to social cues rdfs:label Disminución de la respuesta a las interacciones sociales OFFICIAL @@ -1222,6 +1257,7 @@ en es HP:5200137 Reduced attempt to get or direct attention of peers rdfs:label en es HP:5200212 Increased social interactions rdfs:label Aumento de las interacciones sociales OFFICIAL en es HP:5200213 Decreased emotional vulnerability rdfs:label Disminución de la vulnerabilidad emocional OFFICIAL en es HP:5200221 Decreased comfort with casual physical contact rdfs:label Disconfort con el contacto físico casual OFFICIAL +en es HP:5200235 Thought disorder rdfs:label Trastorno del pensamiento OFFICIAL en es HP:5200292 Non restorative sleep rdfs:label Sueño no reparador OFFICIAL en es HP:5200310 Decreased social interactions rdfs:label Disminución de las interacciones sociales OFFICIAL en es HP:5200311 Increased interpersonal communication rdfs:label Incremento de las comunicaciones interpersonales OFFICIAL diff --git a/src/translations/hp-es-not-translated.babelon.tsv b/src/translations/hp-es-not-translated.babelon.tsv index 5bbd3808a..5d16df075 100644 --- a/src/translations/hp-es-not-translated.babelon.tsv +++ b/src/translations/hp-es-not-translated.babelon.tsv @@ -196,6 +196,14 @@ en Positive CSF pathogen-specific antibody positivity HP:0430139 rdfs:label es en Positive CSF nucleic acid pathogen test HP:0430140 rdfs:label es NOT_TRANSLATED en Positive CSF varicella zoster antibody positivity HP:0430141 rdfs:label es NOT_TRANSLATED en Reduced circulating interleukin 6 concentration HP:0430142 rdfs:label es NOT_TRANSLATED +en Elevated circulating C12 acylcarnitine concentration HP:0430143 rdfs:label es NOT_TRANSLATED +en Frontalis muscle overactivity HP:0430144 rdfs:label es NOT_TRANSLATED +en Nasal dermoid cyst HP:0430145 rdfs:label es NOT_TRANSLATED +en Elevated circulating complement C3 concentration HP:0430146 rdfs:label es NOT_TRANSLATED +en Abnormal circulating inhibin B concentration HP:0430147 rdfs:label es NOT_TRANSLATED +en Abnormal circulating lipoprotein(a) concentration HP:0430148 rdfs:label es NOT_TRANSLATED +en Positive blood infectious agent test HP:0430150 rdfs:label es NOT_TRANSLATED +en Positive respiratory tract infectious agent test HP:0430151 rdfs:label es NOT_TRANSLATED en Diminished breath sounds HP:4000214 rdfs:label es NOT_TRANSLATED en Craniofacial cleft HP:5201015 rdfs:label es NOT_TRANSLATED en Submucous cleft palate HP:5201016 rdfs:label es NOT_TRANSLATED @@ -429,7 +437,7 @@ en Prosthetic heart valve HP:6000227 rdfs:label es NOT_TRANSLATED en Failure to increase oxygen saturation on hyperoxia test HP:6000228 rdfs:label es NOT_TRANSLATED en High-set nipples HP:6000229 rdfs:label es NOT_TRANSLATED en Decreased muscle caveolin-3 level HP:6000230 rdfs:label es NOT_TRANSLATED -en Abnormal tissue enzyme activity HP:6000231 rdfs:label es NOT_TRANSLATED +en Abnormal tissue enzyme concentration or activity HP:6000231 rdfs:label es NOT_TRANSLATED en Splenic necrosis HP:6000232 rdfs:label es NOT_TRANSLATED en Carcinoid tumor of the pancreas HP:6000233 rdfs:label es NOT_TRANSLATED en Elevated circulating dihydroxyphenylacetic acid concentration HP:6000234 rdfs:label es NOT_TRANSLATED @@ -647,5 +655,250 @@ en Elevated thallium cadmiun concentration HP:6000445 rdfs:label es NOT_TRANSLA en Abnormal circulating CC chemokine concentration HP:6000446 rdfs:label es NOT_TRANSLATED en Decreased CSF asialotransferrin to transferrin ratio HP:6000447 rdfs:label es NOT_TRANSLATED en Anti-desmocollin antibody positivity HP:6000448 rdfs:label es NOT_TRANSLATED +en Occupational exposure to raw nonsynthetic textiles HP:6000449 rdfs:label es NOT_TRANSLATED +en Rokitansky-Aschoff gallbladder sinuses HP:6000450 rdfs:label es NOT_TRANSLATED +en Porcelain gallbladder HP:6000451 rdfs:label es NOT_TRANSLATED +en Gallbladder adhesions HP:6000452 rdfs:label es NOT_TRANSLATED +en Bilioduodenal fistula HP:6000453 rdfs:label es NOT_TRANSLATED +en Pneumobilia HP:6000454 rdfs:label es NOT_TRANSLATED +en Ectopic gallstone HP:6000455 rdfs:label es NOT_TRANSLATED +en Sleep drunkeness HP:6000456 rdfs:label es NOT_TRANSLATED +en Mallory bodies HP:6000457 rdfs:label es NOT_TRANSLATED +en Sulfur-containing abscess HP:6000458 rdfs:label es NOT_TRANSLATED +en Retracted tympanic membrane HP:6000459 rdfs:label es NOT_TRANSLATED +en Ectopic testis HP:6000460 rdfs:label es NOT_TRANSLATED +en Cerebral subcortical cyst HP:6000461 rdfs:label es NOT_TRANSLATED +en Anti-ADAMTS13 antibody positivity HP:6000462 rdfs:label es NOT_TRANSLATED +en Habitual mouth breathing HP:6000463 rdfs:label es NOT_TRANSLATED +en Squared off shoulders HP:6000464 rdfs:label es NOT_TRANSLATED +en Elevated urine mesaconic acid level HP:6000465 rdfs:label es NOT_TRANSLATED +en Elevated urine 3-methyladipic acid level HP:6000466 rdfs:label es NOT_TRANSLATED +en Elevated urine D-lactate level HP:6000467 rdfs:label es NOT_TRANSLATED +en Elevated CSF alpha-ketoglutarate concentration HP:6000468 rdfs:label es NOT_TRANSLATED +en Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level HP:6000469 rdfs:label es NOT_TRANSLATED +en Fetal oral mass HP:6000470 rdfs:label es NOT_TRANSLATED +en Dilated ejaculatory duct HP:6000471 rdfs:label es NOT_TRANSLATED +en Decreased Wiskott-Aldrich syndrome protein concentration in hematopoietic cells HP:6000472 rdfs:label es NOT_TRANSLATED +en Decreased FOXP3-expressing T cell count HP:6000473 rdfs:label es NOT_TRANSLATED +en Elevated circulating complement component concentration HP:6000474 rdfs:label es NOT_TRANSLATED +en Anti-beta fodrin antibody positivity HP:6000475 rdfs:label es NOT_TRANSLATED +en Elevated circulating tetradecenoylcarnitine concentration HP:6000476 rdfs:label es NOT_TRANSLATED +en Elevated urine 2-trans,4-cis-decadienoylcarnitine level HP:6000477 rdfs:label es NOT_TRANSLATED +en Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration HP:6000478 rdfs:label es NOT_TRANSLATED +en Elevated urine N-acetyltyrosine level HP:6000479 rdfs:label es NOT_TRANSLATED +en Elevated urine manganese level HP:6000480 rdfs:label es NOT_TRANSLATED +en Reduced urinary manganese level HP:6000481 rdfs:label es NOT_TRANSLATED +en Decreased circulating catecholamine concentration HP:6000482 rdfs:label es NOT_TRANSLATED +en Empty sella turcica HP:6000483 rdfs:label es NOT_TRANSLATED +en Elevated brain guanidinoacetate level by MRS HP:6000484 rdfs:label es NOT_TRANSLATED +en Elevated circulating beta chorionic gonadotropin concentration HP:6000485 rdfs:label es NOT_TRANSLATED +en Elevated circulating CXCL10 concentration HP:6000486 rdfs:label es NOT_TRANSLATED +en Reduced circulating interleukin 12 concentration HP:6000487 rdfs:label es NOT_TRANSLATED +en Reduced circulating fibroblast growth factor 23 concentration HP:6000488 rdfs:label es NOT_TRANSLATED +en Abnormal circulating fibroblast growth factor 23 concentration HP:6000489 rdfs:label es NOT_TRANSLATED +en Impaired heel-walking ability HP:6000490 rdfs:label es NOT_TRANSLATED +en Anti-prothrombin antibody positivity HP:6000491 rdfs:label es NOT_TRANSLATED +en Anti-factor V antibody positivity HP:6000492 rdfs:label es NOT_TRANSLATED +en Anti-factor VII antibody positivity HP:6000493 rdfs:label es NOT_TRANSLATED +en Anti-factor VIII antibody positivity HP:6000494 rdfs:label es NOT_TRANSLATED +en Anti-factor IX antibody positivity HP:6000495 rdfs:label es NOT_TRANSLATED +en Anti-factor X antibody positivity HP:6000496 rdfs:label es NOT_TRANSLATED +en Anti-factor XI antibody positivity HP:6000497 rdfs:label es NOT_TRANSLATED +en Anti-factor XIII antibody positivity HP:6000498 rdfs:label es NOT_TRANSLATED +en Anti-factor H antibody positivity HP:6000499 rdfs:label es NOT_TRANSLATED +en Extremities cold to touch HP:6000500 rdfs:label es NOT_TRANSLATED +en Ruffled acrosome HP:6000501 rdfs:label es NOT_TRANSLATED +en Elevated circulating calprotectin concentration HP:6000502 rdfs:label es NOT_TRANSLATED +en 4-5 toe cutaneous syndactyly HP:6000503 rdfs:label es NOT_TRANSLATED +en Poly-hill sign HP:6000504 rdfs:label es NOT_TRANSLATED +en 3-5 finger cutaneous syndactyly HP:6000505 rdfs:label es NOT_TRANSLATED +en Radioulnar subluxation HP:6000506 rdfs:label es NOT_TRANSLATED +en Non-pitting edema HP:6000507 rdfs:label es NOT_TRANSLATED +en Anti-human ferritin peptide antibody positivity HP:6000508 rdfs:label es NOT_TRANSLATED +en Elevated CSF L-2-hydroxyglutaric acid concentration HP:6000509 rdfs:label es NOT_TRANSLATED +en Elevated erythrocyte inosine triphosphate concentration HP:6000510 rdfs:label es NOT_TRANSLATED +en Reduced erythrocyte inosine triphosphatase activity HP:6000511 rdfs:label es NOT_TRANSLATED +en Reduced circulating alpha-1,3-fucosyltransferase activity HP:6000512 rdfs:label es NOT_TRANSLATED +en Diminished neutrophil myeloperoxidase activity HP:6000513 rdfs:label es NOT_TRANSLATED +en Reduced erythrocyte uroporphyrinogen III cosynthase activity HP:6000514 rdfs:label es NOT_TRANSLATED +en Elevated 18-hydroxycorticosterone to aldosterone ratio HP:6000515 rdfs:label es NOT_TRANSLATED +en Elevated circulating 21-deoxycortisol concentration HP:6000516 rdfs:label es NOT_TRANSLATED +en Elevated monolysocardiolipin/cardiolipin ratio HP:6000517 rdfs:label es NOT_TRANSLATED +en Low maternal vitamin B12 concentration HP:6000518 rdfs:label es NOT_TRANSLATED +en Elevated circulating inhibin A concentration HP:6000519 rdfs:label es NOT_TRANSLATED +en Increased circulating inhibin B concentration HP:6000520 rdfs:label es NOT_TRANSLATED +en Elevated circulating lipoprotein(a) concentration HP:6000521 rdfs:label es NOT_TRANSLATED +en Reduced circulating lipoprotein(a) concentration HP:6000522 rdfs:label es NOT_TRANSLATED +en Increased urinary bile acid level HP:6000523 rdfs:label es NOT_TRANSLATED +en Abnormal urinary bile acid level HP:6000524 rdfs:label es NOT_TRANSLATED +en Reduced erythrocyte glutathione reductase activity HP:6000525 rdfs:label es NOT_TRANSLATED +en Failure to elevate lactate upon ischemic exercise test HP:6000526 rdfs:label es NOT_TRANSLATED +en Elevated circulating cholestanol concentration HP:6000527 rdfs:label es NOT_TRANSLATED +en Livestock exposure HP:6000528 rdfs:label es NOT_TRANSLATED +en Synchronous skin lesions HP:6000529 rdfs:label es NOT_TRANSLATED +en Serpentine skin location HP:6000530 rdfs:label es NOT_TRANSLATED +en Abnormal urinary organic compound level HP:6000531 rdfs:label es NOT_TRANSLATED +en Elevated urinary histamine level HP:6000532 rdfs:label es NOT_TRANSLATED +en Elevated urinary N-methylhistamine level HP:6000533 rdfs:label es NOT_TRANSLATED +en Elevated urinary ureidopropionic acid level HP:6000534 rdfs:label es NOT_TRANSLATED +en Elevated urinary porphyrin level HP:6000535 rdfs:label es NOT_TRANSLATED +en Elevated urinary coproporphyrin level HP:6000536 rdfs:label es NOT_TRANSLATED +en Ecrrine sweat gland predominance HP:6000537 rdfs:label es NOT_TRANSLATED +en Poorly demarcated skin lesion HP:6000538 rdfs:label es NOT_TRANSLATED +en History of recent cat bite HP:6000539 rdfs:label es NOT_TRANSLATED +en History of recent stay in area with inadequate sewage sanitation HP:6000540 rdfs:label es NOT_TRANSLATED +en Positive cutaneous herpes simplex virus nucleic acid test HP:6000541 rdfs:label es NOT_TRANSLATED +en Positive CSF mycobacterium tuberculosis nucleic acid test HP:6000542 rdfs:label es NOT_TRANSLATED +en Posiitive mycobacterium CSF culture HP:6000543 rdfs:label es NOT_TRANSLATED +en Positive mycobacterium CSF microscopy HP:6000544 rdfs:label es NOT_TRANSLATED +en Positive treponema pallidum PCR test in the blood circulation HP:6000545 rdfs:label es NOT_TRANSLATED +en Positive human Immunodeficiency virus nucleic acid test in the blood circulation HP:6000546 rdfs:label es NOT_TRANSLATED +en Positive CSF enterovirus nucleic acid test HP:6000547 rdfs:label es NOT_TRANSLATED +en Positive CSF Borrelia burgdorferi nucleic acid test HP:6000548 rdfs:label es NOT_TRANSLATED +en Positive CSF arbovirus nucleic acid test HP:6000549 rdfs:label es NOT_TRANSLATED +en Positive Bartonella henselae nucleic acid test in the blood circulation HP:6000550 rdfs:label es NOT_TRANSLATED +en Positive Dengue virus PCR test in the blood circulation HP:6000551 rdfs:label es NOT_TRANSLATED +en Positive CSF JC-virus nucleic acid test HP:6000552 rdfs:label es NOT_TRANSLATED +en Bloodstream Malaria parasite HP:6000553 rdfs:label es NOT_TRANSLATED +en Positive bloodstream plasmodium falciparum nucleic acid pathogen test HP:6000554 rdfs:label es NOT_TRANSLATED +en Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity HP:6000555 rdfs:label es NOT_TRANSLATED +en Reduced circulating dopamine beta-hydroxylase activity HP:6000556 rdfs:label es NOT_TRANSLATED +en Reduced erythrocyte bisphosphoglycerate mutase activity HP:6000557 rdfs:label es NOT_TRANSLATED +en Reduced erythrocyte adenylate kinase activity HP:6000558 rdfs:label es NOT_TRANSLATED +en Reduced erythrocyte hexokinase activity HP:6000559 rdfs:label es NOT_TRANSLATED +en Decreased circulating carboxypeptidase N activity HP:6000560 rdfs:label es NOT_TRANSLATED +en Elevated red cell pyruvate kinase activity HP:6000561 rdfs:label es NOT_TRANSLATED +en Reduced circulating adenosine deaminase-2 activity HP:6000562 rdfs:label es NOT_TRANSLATED +en Reduced sepiapterin reductase activity in cultured fibroblasts HP:6000563 rdfs:label es NOT_TRANSLATED +en Elevated circulating vasoactive intestinal peptide concentration HP:6000564 rdfs:label es NOT_TRANSLATED +en Elevated circulating cholesterol sulfate concentration HP:6000565 rdfs:label es NOT_TRANSLATED +en Elevated circulating lipoprotein X concentration HP:6000566 rdfs:label es NOT_TRANSLATED +en Elevated circulating oxalate concentration HP:6000567 rdfs:label es NOT_TRANSLATED +en Elevated blood ethylene glycol concentration HP:6000568 rdfs:label es NOT_TRANSLATED +en Midline notching of lower lip HP:6000569 rdfs:label es NOT_TRANSLATED +en Reduced tissue thymidine phosphorylase activity HP:6000570 rdfs:label es NOT_TRANSLATED +en Reduced tissue tripeptidyl peptidase 1 activity HP:6000571 rdfs:label es NOT_TRANSLATED +en Reduced tissue arginine:glycine amidinotransferase activity HP:6000572 rdfs:label es NOT_TRANSLATED +en Reduced tissue aspartylglucosaminidase activity HP:6000573 rdfs:label es NOT_TRANSLATED +en Reduced tissue carnitine-acylcarnitine translocase activity HP:6000574 rdfs:label es NOT_TRANSLATED +en Reduced circulating 6-pyruvoyltetrahydropterin synthase activity HP:6000575 rdfs:label es NOT_TRANSLATED +en Reduced tissue mannosyl-oligosaccharide glucosidase activity HP:6000576 rdfs:label es NOT_TRANSLATED +en Reduced tissue 3-methylglutaconyl-CoA hydratase activity HP:6000577 rdfs:label es NOT_TRANSLATED +en Reduced tissue gamma-glutamyltransferase activity HP:6000578 rdfs:label es NOT_TRANSLATED +en Positive oropharangeal infectious agent test HP:6000579 rdfs:label es NOT_TRANSLATED +en Positive oropharynx poliovirus nucleic acid test HP:6000580 rdfs:label es NOT_TRANSLATED +en Positive synonvial fluid infectious agent test HP:6000581 rdfs:label es NOT_TRANSLATED +en Positive synonvial fluid culture HP:6000582 rdfs:label es NOT_TRANSLATED +en Positive synovial fluid gram stain HP:6000583 rdfs:label es NOT_TRANSLATED +en Anti Parvovirus antibody positivity HP:6000584 rdfs:label es NOT_TRANSLATED +en Brain parenchymal tuberculoma HP:6000585 rdfs:label es NOT_TRANSLATED +en Muscle arteriovenous malformation HP:6000586 rdfs:label es NOT_TRANSLATED +en Bone arteriovenous malformation HP:6000587 rdfs:label es NOT_TRANSLATED +en Periosteal elevation HP:6000588 rdfs:label es NOT_TRANSLATED +en Esophageal dilation HP:6000589 rdfs:label es NOT_TRANSLATED +en Spinal lipoma HP:6000590 rdfs:label es NOT_TRANSLATED +en Loose body in joint HP:6000591 rdfs:label es NOT_TRANSLATED +en Paraspinal arteriovenous malformation HP:6000592 rdfs:label es NOT_TRANSLATED +en Supernumerary tarsal bone HP:6000593 rdfs:label es NOT_TRANSLATED +en Maxillary cyst HP:6000594 rdfs:label es NOT_TRANSLATED +en Mandibular cyst HP:6000595 rdfs:label es NOT_TRANSLATED +en Sixth cranial nerve hypoplasia HP:6000596 rdfs:label es NOT_TRANSLATED +en Third cranial nerve hypoplasia HP:6000597 rdfs:label es NOT_TRANSLATED +en Elevated urinary succinylacetone level HP:6000598 rdfs:label es NOT_TRANSLATED +en Elevated urinary 2-oxoisocaproic level HP:6000599 rdfs:label es NOT_TRANSLATED +en Elevated urinary 2-oxovaleric acid level HP:6000600 rdfs:label es NOT_TRANSLATED +en Elevated urinary 2-hydroxyisocaproic acid level HP:6000601 rdfs:label es NOT_TRANSLATED +en Elevated urinary isovalerylglycine level HP:6000602 rdfs:label es NOT_TRANSLATED +en Elevated urinary 2-methyl-3-hydroxybutyric acid level HP:6000603 rdfs:label es NOT_TRANSLATED +en Elevated urinary 3-hydroxypentanoic acid level HP:6000604 rdfs:label es NOT_TRANSLATED +en Elevated urinary 7-hydroxyoctanoic acid level HP:6000605 rdfs:label es NOT_TRANSLATED +en Elevated urinary D-glyceric acid level HP:6000606 rdfs:label es NOT_TRANSLATED +en Elevated urinary 3-hydroxyisobutyric acid level HP:6000607 rdfs:label es NOT_TRANSLATED +en Elevated urinary 3,4-Dihydroxybutyric acid level HP:6000608 rdfs:label es NOT_TRANSLATED +en Elevated urinary 3-hydroxyadipic acid level HP:6000609 rdfs:label es NOT_TRANSLATED +en Elevated erythrocyte galactose-1-phosphate concentration HP:6000610 rdfs:label es NOT_TRANSLATED +en Elevated circulating chitotriosidase activity HP:6000611 rdfs:label es NOT_TRANSLATED +en Squamosal suture synostosis HP:6000612 rdfs:label es NOT_TRANSLATED +en Enlarged fetal lungs HP:6000613 rdfs:label es NOT_TRANSLATED +en Orbital inflammation HP:6000614 rdfs:label es NOT_TRANSLATED +en Reduced Inositol polyphosphate 5-phosphatase OCRL-1 activity in cultured fibroblasts HP:6000615 rdfs:label es NOT_TRANSLATED +en Reduced muscle glycogen debrancher enzyme activity HP:6000616 rdfs:label es NOT_TRANSLATED +en Reduced tissue UDP-glucuronyl-transferase activity HP:6000617 rdfs:label es NOT_TRANSLATED +en Temporal artery giant cells HP:6000618 rdfs:label es NOT_TRANSLATED +en Reduced phosphoenolpyruvate carboxykinase activity in cultured fibroblasts HP:6000619 rdfs:label es NOT_TRANSLATED +en Elevated urinary pyrroline hydroxycarboxylic acid level HP:6000620 rdfs:label es NOT_TRANSLATED +en Elevated urinary N-tau-ribosylhistidine level HP:6000621 rdfs:label es NOT_TRANSLATED +en Elevated urinary ureidoisobutyric acid level HP:6000622 rdfs:label es NOT_TRANSLATED +en Elevated urinary N-carbamyl-beta-aminoisobutyric acid level HP:6000623 rdfs:label es NOT_TRANSLATED +en Nipple epidermal Paget cells HP:6000624 rdfs:label es NOT_TRANSLATED +en Penile corporal blood gas ischemia HP:6000625 rdfs:label es NOT_TRANSLATED +en Recent temporal region trauma HP:6000626 rdfs:label es NOT_TRANSLATED +en Rest limb pain HP:6000627 rdfs:label es NOT_TRANSLATED +en Scalloped appearance of liver surface HP:6000628 rdfs:label es NOT_TRANSLATED +en Nipple thickening HP:6000629 rdfs:label es NOT_TRANSLATED +en Hypoechoic breast mass HP:6000630 rdfs:label es NOT_TRANSLATED +en Unilocular ovarian cyst HP:6000631 rdfs:label es NOT_TRANSLATED +en Mesenteric torsion HP:6000632 rdfs:label es NOT_TRANSLATED +en High-pitched bowel sounds HP:6000633 rdfs:label es NOT_TRANSLATED +en Exacerbated by opiate medication HP:6000634 rdfs:label es NOT_TRANSLATED +en Breast granuloma HP:6000635 rdfs:label es NOT_TRANSLATED +en Exposure to cosmetic fragrances HP:6000636 rdfs:label es NOT_TRANSLATED +en Sweating and flushing in the preauricular area in response to mastication HP:6000637 rdfs:label es NOT_TRANSLATED +en Reduced hepatic glyoxylate reductase activity HP:6000638 rdfs:label es NOT_TRANSLATED +en PAS-positive lymphocyte vacuolization HP:6000639 rdfs:label es NOT_TRANSLATED +en Lipid-laden bone-marrow macrophages HP:6000640 rdfs:label es NOT_TRANSLATED +en Bone marrow monocytosis HP:6000641 rdfs:label es NOT_TRANSLATED +en Sunflower cataract HP:6000642 rdfs:label es NOT_TRANSLATED +en Anti-lamin A antibody positivity HP:6000643 rdfs:label es NOT_TRANSLATED +en Anti-lamin C antibody positivity HP:6000644 rdfs:label es NOT_TRANSLATED +en Anti-vinculin antibody positivity HP:6000645 rdfs:label es NOT_TRANSLATED +en Anti-annexin A5 antibody positivity HP:6000646 rdfs:label es NOT_TRANSLATED +en Bulging fontanelle HP:6000647 rdfs:label es NOT_TRANSLATED +en 3-4 toe cutaneous syndactyly HP:6000648 rdfs:label es NOT_TRANSLATED +en Triangular nail HP:6000649 rdfs:label es NOT_TRANSLATED +en Distal tibiofibular synostosis HP:6000650 rdfs:label es NOT_TRANSLATED +en Abnormal metacarpal ossification HP:6000651 rdfs:label es NOT_TRANSLATED +en Rib spur HP:6000652 rdfs:label es NOT_TRANSLATED +en Crescent-shaped iliac bone HP:6000653 rdfs:label es NOT_TRANSLATED +en Abnormal ischium ossification HP:6000654 rdfs:label es NOT_TRANSLATED +en Femoral neck fracture HP:6000655 rdfs:label es NOT_TRANSLATED +en Papillary dermis eosinophilic hyaline material HP:6000656 rdfs:label es NOT_TRANSLATED +en Pancreatic intraductal papillary mucinous neoplasm HP:6000657 rdfs:label es NOT_TRANSLATED +en Medium vessel vasculitis HP:6000658 rdfs:label es NOT_TRANSLATED +en Elevated muscle fiber laminin alpha 5 expression HP:6000659 rdfs:label es NOT_TRANSLATED +en Paravertebral mass HP:6000660 rdfs:label es NOT_TRANSLATED +en Phlebolith HP:6000661 rdfs:label es NOT_TRANSLATED +en Bladder rupture HP:6000662 rdfs:label es NOT_TRANSLATED +en Elevated myocardial iron load HP:6000663 rdfs:label es NOT_TRANSLATED +en Right ventricular regional wall motion abnormality HP:6000664 rdfs:label es NOT_TRANSLATED +en Right ventricular regional akinesia HP:6000665 rdfs:label es NOT_TRANSLATED +en Right ventricular regional dyskinesia HP:6000666 rdfs:label es NOT_TRANSLATED +en Right ventricular aneurysm HP:6000667 rdfs:label es NOT_TRANSLATED +en Glomerular immune-complex deposition HP:6000668 rdfs:label es NOT_TRANSLATED +en Glomerular PLA2R immune-complex deposition HP:6000669 rdfs:label es NOT_TRANSLATED +en Elevated urinary L-glycerate level HP:6000670 rdfs:label es NOT_TRANSLATED +en Breast myxoma HP:6000671 rdfs:label es NOT_TRANSLATED +en Ovarian cystadenoma HP:6000672 rdfs:label es NOT_TRANSLATED +en Abnormal CSF N-acetylaspartic acid concentration HP:6000673 rdfs:label es NOT_TRANSLATED +en Decreased CSF N-acetylaspartic acid concentration HP:6000674 rdfs:label es NOT_TRANSLATED +en Elevated urinary mevalonate lactone level HP:6000675 rdfs:label es NOT_TRANSLATED +en Anti-von Willebrand factor antibody positivity HP:6000676 rdfs:label es NOT_TRANSLATED +en Elevated natural killer cell count HP:6000677 rdfs:label es NOT_TRANSLATED +en Myositis-specific autoantibody positivity HP:6000678 rdfs:label es NOT_TRANSLATED +en Abnormal serum osmolality HP:6000679 rdfs:label es NOT_TRANSLATED +en Low serum osmolality HP:6000680 rdfs:label es NOT_TRANSLATED +en High serum osmolality HP:6000681 rdfs:label es NOT_TRANSLATED +en History of compressive dressings HP:6000682 rdfs:label es NOT_TRANSLATED +en Triggered by overhead motions HP:6000683 rdfs:label es NOT_TRANSLATED +en Radiating pain HP:6000684 rdfs:label es NOT_TRANSLATED +en Mitral opening snap HP:6000685 rdfs:label es NOT_TRANSLATED +en Mucus in stool HP:6000686 rdfs:label es NOT_TRANSLATED +en Elevated circulating CCL3 concentration HP:6000687 rdfs:label es NOT_TRANSLATED +en Elevated circulating CCL4 concentration HP:6000688 rdfs:label es NOT_TRANSLATED +en Elevated CSF 14-3-3 protein concentration HP:6000689 rdfs:label es NOT_TRANSLATED +en Elevated CSF dihydrobiopterin concentration HP:6000690 rdfs:label es NOT_TRANSLATED +en Left atrial fibrosis HP:6000691 rdfs:label es NOT_TRANSLATED +en Abnormal circulating atrial natriuretic peptide pro-hormone concentration HP:6000692 rdfs:label es NOT_TRANSLATED +en Reduced circulating NT-proANP concentration HP:6000693 rdfs:label es NOT_TRANSLATED en inheres in RO:0000052 rdfs:label es NOT_TRANSLATED en inheres in part of RO:0002314 rdfs:label es NOT_TRANSLATED diff --git a/src/translations/hp-es-preprocessed.babelon.tsv b/src/translations/hp-es-preprocessed.babelon.tsv index 3f7b621a7..164c634ed 100644 --- a/src/translations/hp-es-preprocessed.babelon.tsv +++ b/src/translations/hp-es-preprocessed.babelon.tsv @@ -322,7 +322,7 @@ en es HP:0000410 Mixed hearing impairment rdfs:label Discapacidad auditiva/hipoa en es HP:0000411 Protruding ear rdfs:label Oreja prominente, despegada OFFICIAL en es HP:0000413 Atresia of the external auditory canal rdfs:label Atresia del conducto auditivo externo OFFICIAL en es HP:0000414 Bulbous nose rdfs:label Nariz bulbosa OFFICIAL -en es HP:0000415 Abnormality of the choanae rdfs:label Anomalía de las coanas OFFICIAL +en es HP:0000415 Abnormal choanae morphology rdfs:label Anomalía de las coanas CANDIDATE en es HP:0000417 Slender nose rdfs:label Nariz fina OFFICIAL en es HP:0000418 Narrow nasal ridge rdfs:label Cresta nasal estrecha OFFICIAL en es HP:0000419 Abnormal nasal septum morphology rdfs:label Anomalía del tabique nasal CANDIDATE @@ -578,7 +578,7 @@ en es HP:0000727 Frontal lobe dementia rdfs:label Demencia del lóbulo frontal O en es HP:0000728 Impaired ability to form peer relationships rdfs:label Alteración para la habilidad de establecer relaciones con compañeros OFFICIAL en es HP:0000729 Autistic behavior rdfs:label Comportamiento autista OFFICIAL en es HP:0000732 Inflexible adherence to routines rdfs:label Inflexibilidad para adherirse a rutinas o rituales CANDIDATE -en es HP:0000733 Abnormal repetitive mannerisms rdfs:label Comportamiento estereottipado CANDIDATE +en es HP:0000733 Motor stereotypy rdfs:label Comportamiento estereottipado CANDIDATE en es HP:0000734 Disinhibition rdfs:label Desinhibición OFFICIAL en es HP:0000735 obsolete Impaired social interactions rdfs:label Interacciones sociales deteriorados CANDIDATE en es HP:0000736 Short attention span rdfs:label Período de atención cortos OFFICIAL @@ -1419,7 +1419,7 @@ en es HP:0001896 Reticulocytopenia rdfs:label Reticulocitopenia OFFICIAL en es HP:0001897 Normocytic anemia rdfs:label Anemia normocítica OFFICIAL en es HP:0001898 Increased red blood cell mass rdfs:label Aumento de la masa de glóbulos rojos OFFICIAL en es HP:0001899 Increased hematocrit rdfs:label Aumento de hematocrito OFFICIAL -en es HP:0001900 Increased hemoglobin rdfs:label Aumento de la hemoglobina OFFICIAL +en es HP:0001900 Increased circulating hemoglobin concentration rdfs:label Aumento de la hemoglobina CANDIDATE en es HP:0001901 Polycythemia rdfs:label Policitemia OFFICIAL en es HP:0001902 Giant platelets rdfs:label Plaquetas gigantes OFFICIAL en es HP:0001903 Anemia rdfs:label Anemia OFFICIAL @@ -2045,7 +2045,7 @@ en es HP:0002740 Recurrent E. coli infections rdfs:label Infecciones recurrentes en es HP:0002741 Recurrent Serratia marcescens infections rdfs:label Infecciones recurrentes por Serratia marcescens OFFICIAL en es HP:0002742 Recurrent Klebsiella infections rdfs:label Infecciones recurrentes por Klebsiella OFFICIAL en es HP:0002743 Recurrent enteroviral infections rdfs:label Infecciones recurrentes por enterovirus OFFICIAL -en es HP:0002744 Bilateral cleft lip and palate rdfs:label Hendidura de labio y paladar bilateral OFFICIAL +en es HP:0002744 obsolete Bilateral cleft lip and palate rdfs:label Hendidura de labio y paladar bilateral CANDIDATE en es HP:0002745 Oral leukoplakia rdfs:label Leucoplasia oral OFFICIAL en es HP:0002747 Respiratory insufficiency due to muscle weakness rdfs:label Insuficiencia respiratoria por debilidad muscular OFFICIAL en es HP:0002748 Rickets rdfs:label Raquitismo OFFICIAL @@ -2554,7 +2554,7 @@ en es HP:0003448 Decreased sensory nerve conduction velocity rdfs:label Disminuc en es HP:0003449 Cold-induced muscle cramps rdfs:label Calambres musculares causados por el frío OFFICIAL en es HP:0003450 Axonal regeneration rdfs:label Regeneración axonal OFFICIAL en es HP:0003451 Increased rate of premature chromosome condensation rdfs:label Aumento de velocidad de condensación prematura de cromosomas OFFICIAL -en es HP:0003452 Increased serum iron rdfs:label Aumento de hierro sérico OFFICIAL +en es HP:0003452 Increased circulating iron concentration rdfs:label Aumento de hierro sérico CANDIDATE en es HP:0003453 Antineutrophil antibody positivity rdfs:label Positividad de anticuerpos antineutrófilos OFFICIAL en es HP:0003454 Platelet antibody positive rdfs:label Anticuerpo plaquetario positivo OFFICIAL en es HP:0003455 Elevated circulating long chain fatty acid concentration rdfs:label Ácidos grasos de cadena larga elevados OFFICIAL @@ -2658,7 +2658,7 @@ en es HP:0003621 Juvenile onset rdfs:label Inicio juvenil OFFICIAL en es HP:0003623 Neonatal onset rdfs:label Inicio neonatal OFFICIAL en es HP:0003634 Amyoplasia rdfs:label Amioplasia generalizada OFFICIAL en es HP:0003635 Loss of subcutaneous adipose tissue in limbs rdfs:label Pérdida de tejido adiposo subcutáneo en las extremidades OFFICIAL -en es HP:0003637 Reduced 4-Hydroxyphenylpyruvate dioxygenase level rdfs:label Disminución de la actividad de 4 hidroxifenilpiruvato dioxigenasa CANDIDATE +en es HP:0003637 Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity rdfs:label Disminución de la actividad de 4 hidroxifenilpiruvato dioxigenasa CANDIDATE en es HP:0003639 Elevated urinary epinephrine level rdfs:label Epinefrina urinaria elevada CANDIDATE en es HP:0003640 CNS foam cells rdfs:label Células espumosas en órganos viscerales y SNC CANDIDATE en es HP:0003641 Hemoglobinuria rdfs:label Hemoglobinuria OFFICIAL @@ -3216,7 +3216,7 @@ en es HP:0004426 Abnormal cheek morphology rdfs:label Anomalía de las mejillas en es HP:0004428 Elfin facies rdfs:label Cara de duende OFFICIAL en es HP:0004429 Recurrent viral infections rdfs:label Infecciones virales recurrentes OFFICIAL en es HP:0004430 Severe combined immunodeficiency rdfs:label Inmunodeficiencia combinada severa OFFICIAL -en es HP:0004431 Complement deficiency rdfs:label Deficiencia del complemento OFFICIAL +en es HP:0004431 Reduced circulating complement concentration rdfs:label Deficiencia del complemento CANDIDATE en es HP:0004432 Agammaglobulinemia rdfs:label Agammaglobulinemia OFFICIAL en es HP:0004433 Secretory IgA deficiency rdfs:label Deficiencia de IgA secretora OFFICIAL en es HP:0004434 Decreased circulating complement C8 concentration rdfs:label Deficiencia de C8 CANDIDATE @@ -3711,7 +3711,7 @@ en es HP:0005280 Depressed nasal bridge rdfs:label Puente nasal deprimido OFFICI en es HP:0005281 Hypoplastic nasal bridge rdfs:label Puente nasal hipoplásico OFFICIAL en es HP:0005285 Absent nasal bridge rdfs:label Ausencia de puente nasal OFFICIAL en es HP:0005288 Abnormal nostril morphology rdfs:label Anomalía de las fosas nasales CANDIDATE -en es HP:0005289 Abnormality of the nasolabial region rdfs:label Anomalía de la región nasolabial OFFICIAL +en es HP:0005289 Abnormal nasolabial region morphology rdfs:label Anomalía de la región nasolabial CANDIDATE en es HP:0005290 Internal carotid artery hypoplasia rdfs:label Hipoplasia de la arteria carótida interna OFFICIAL en es HP:0005291 Inflammatory arteriopathy rdfs:label Arteriopatía inflamatoria OFFICIAL en es HP:0005292 Intimal thickening in the coronary arteries rdfs:label Engrosamiento de la íntima en las arterias coronarias OFFICIAL @@ -4342,13 +4342,13 @@ en es HP:0006409 Progressive leg bowing rdfs:label Encurvamiento progresivo de l en es HP:0006413 Broad tibial metaphyses rdfs:label Metáfisis tibial ancha OFFICIAL en es HP:0006414 Distal tibial bowing rdfs:label Incurvación tibial distal OFFICIAL en es HP:0006415 Cortically dense long tubular bones rdfs:label Huesos tubulares largos con hiperdensidad de la cortical OFFICIAL -en es HP:0006417 Broad femoral metaphyses rdfs:label Metáfisis femorales anchas OFFICIAL +en es HP:0006417 Wide femoral metaphysis rdfs:label Metáfisis femorales anchas CANDIDATE en es HP:0006420 Asymmetric radial dysplasia rdfs:label Displasia radial asimétrica OFFICIAL en es HP:0006423 Peg-like central prominence of distal tibial metaphyses rdfs:label Prominencia central de las metáfisis tibiales distales (con forma de ganchos) OFFICIAL en es HP:0006424 Elongated radius rdfs:label Radio alargado OFFICIAL en es HP:0006426 Rudimentary to absent tibiae rdfs:label Tibia rudimentaria o ausente OFFICIAL en es HP:0006429 Broad femoral neck rdfs:label Cuello femoral ancho OFFICIAL -en es HP:0006431 Proximal femoral metaphyseal abnormality rdfs:label Anomalías metafisaria de fémur distal y proximal OFFICIAL +en es HP:0006431 Abnormal proximal femoral metaphysis morphology rdfs:label Anomalías metafisaria de fémur distal y proximal CANDIDATE en es HP:0006432 Trapezoidal distal femoral condyles rdfs:label Cóndilos femorales distales en forma trapezoide OFFICIAL en es HP:0006433 Radial dysplasia rdfs:label Radios displásicos CANDIDATE en es HP:0006434 Hypoplasia of proximal radius rdfs:label Hipoplasia del radio proximal OFFICIAL @@ -5538,7 +5538,7 @@ en es HP:0008414 Lumbar kyphosis in infancy rdfs:label Cifosis lumbar en la infa en es HP:0008416 Six lumbar vertebrae rdfs:label Seis vértebras lumbares OFFICIAL en es HP:0008417 Vertebral hypoplasia rdfs:label Hipoplasia vertebral OFFICIAL en es HP:0008418 Squared-off platyspondyly rdfs:label Platispondilia cuadrada OFFICIAL -en es HP:0008419 Intervertebral disc degeneration rdfs:label Degeneración del disco intervertebral OFFICIAL +en es HP:0008419 Intervertebral disk degeneration rdfs:label Degeneración del disco intervertebral CANDIDATE en es HP:0008420 Punctate vertebral calcifications rdfs:label Calcificaciones punctatas vertebrales OFFICIAL en es HP:0008421 Tall lumbar vertebral bodies rdfs:label Cuerpos vertebrales lumbares altos OFFICIAL en es HP:0008422 Vertebral wedging rdfs:label Acuñamiento vertebral OFFICIAL @@ -5602,9 +5602,9 @@ en es HP:0008491 Premature anterior fontanel closure rdfs:label Cierre prematuro en es HP:0008494 Inferior lens subluxation rdfs:label Subluxación inferior del cristalino OFFICIAL en es HP:0008496 Multiple rows of eyelashes rdfs:label Múltiples filas de pestañas OFFICIAL en es HP:0008497 Congenital craniofacial dysostosis rdfs:label Disostosis craneofacial congénita OFFICIAL -en es HP:0008498 No permanent dentition rdfs:label Ausencia de dentición permanente OFFICIAL +en es HP:0008498 obsolete No permanent dentition rdfs:label Ausencia de dentición permanente CANDIDATE en es HP:0008499 High hypermetropia rdfs:label Hipermetropía de alto grado OFFICIAL -en es HP:0008501 Median cleft lip and palate rdfs:label Hendidura central de labio y paladar OFFICIAL +en es HP:0008501 obsolete Median cleft lip and palate rdfs:label Hendidura central de labio y paladar CANDIDATE en es HP:0008504 Moderate sensorineural hearing impairment rdfs:label Discapacidad auditiva/hipoacusia neurosensorial moderada OFFICIAL en es HP:0008507 Static ophthalmoparesis rdfs:label Oftalmoparesia estática OFFICIAL en es HP:0008509 Aged leonine appearance rdfs:label Apariencia leonina OFFICIAL @@ -5654,7 +5654,7 @@ en es HP:0008628 Abnormality of the stapes rdfs:label Anomalía del estribo OFFI en es HP:0008629 Pulsatile tinnitus rdfs:label Acúfeno pulsátil OFFICIAL en es HP:0008631 Ureteral dysgenesis rdfs:label Disgenesia ureteral OFFICIAL en es HP:0008633 Agonadism rdfs:label Tejido gonadal ausente OFFICIAL -en es HP:0008635 Hypertrophy of the urinary bladder rdfs:label Hipertrofia de la vejiga urinaria OFFICIAL +en es HP:0008635 Urinary bladder wall hypertrophy rdfs:label Hipertrofia de la vejiga urinaria CANDIDATE en es HP:0008636 obsolete Lobular glomerulopathy rdfs:label Glomerulopatía lobular CANDIDATE en es HP:0008639 Gonadal hypoplasia rdfs:label Hipoplasia gonadal OFFICIAL en es HP:0008640 Congenital macroorchidism rdfs:label Macroorquidia congénita OFFICIAL @@ -6345,7 +6345,7 @@ en es HP:0009591 Abnormality of the vestibulocochlear nerve rdfs:label Anomalía en es HP:0009592 Astrocytoma rdfs:label Astrocitoma OFFICIAL en es HP:0009593 Peripheral schwannoma rdfs:label Schwannoma periférico OFFICIAL en es HP:0009594 Retinal hamartoma rdfs:label Hamartoma de retina OFFICIAL -en es HP:0009595 Occasional neurofibromas rdfs:label Neurofibromas ocasionales OFFICIAL +en es HP:0009595 obsolete Occasional neurofibromas rdfs:label Neurofibromas ocasionales CANDIDATE en es HP:0009596 Aplasia of the proximal phalanx of the 2nd finger rdfs:label Aplasia de la falange proximal del segundo dedo de la mano OFFICIAL en es HP:0009597 Short proximal phalanx of the 2nd finger rdfs:label Acortamiento de la falange proximal del segundo dedo de la mano OFFICIAL en es HP:0009598 Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal rdfs:label Sinfalangismo de la falange proximal del segundo dedo con la segunda metacarpiana OFFICIAL @@ -6632,7 +6632,7 @@ en es HP:0009918 Ectopia pupillae rdfs:label Ectopia de pupila OFFICIAL en es HP:0009919 Retinoblastoma rdfs:label Retinoblastoma OFFICIAL en es HP:0009920 Nevus of Ota rdfs:label Nevo de Ota OFFICIAL en es HP:0009921 Duane anomaly rdfs:label Anomalía de Duane OFFICIAL -en es HP:0009922 Vascular remnant arising from the disc rdfs:label Persistencia de la arteria hialoidea OFFICIAL +en es HP:0009922 Vascular remnant arising from the disk rdfs:label Persistencia de la arteria hialoidea CANDIDATE en es HP:0009924 Aplasia/Hypoplasia involving the nose rdfs:label Aplasia / hipoplasia de la nariz OFFICIAL en es HP:0009926 Epiphora rdfs:label Aumento del lagrimeo OFFICIAL en es HP:0009927 Aplasia of the nose rdfs:label Aplasia de la nariz OFFICIAL @@ -7270,7 +7270,7 @@ en es HP:0010582 Irregular epiphyses rdfs:label Epífisis irregulares OFFICIAL en es HP:0010583 Ivory epiphyses rdfs:label Epífisis de marfil OFFICIAL en es HP:0010584 Pseudoepiphyses rdfs:label Pseudoepífisis OFFICIAL en es HP:0010585 Small epiphyses rdfs:label Epífisis pequeñas OFFICIAL -en es HP:0010587 Triangular epiphyses rdfs:label Epífisis triangulares OFFICIAL +en es HP:0010587 Triangular epiphysis rdfs:label Epífisis triangulares CANDIDATE en es HP:0010588 Premature epimetaphyseal fusion rdfs:label Fusión prematura epimetafisiaria OFFICIAL en es HP:0010590 Abnormality of the distal femoral epiphysis rdfs:label Anomalía de la epífisis femoral distal OFFICIAL en es HP:0010591 Abnormality of the proximal tibial epiphysis rdfs:label Anomalía de la epífisis tibial proximal OFFICIAL @@ -7319,7 +7319,7 @@ en es HP:0010636 Schizencephaly rdfs:label Esquisencefalia OFFICIAL en es HP:0010637 Conjunctival amyloidosis rdfs:label Amiloidosis conjuntival OFFICIAL en es HP:0010638 Elevated alkaline phosphatase of hepatic origin rdfs:label Fosfatasa alcalina elevada de origen hepático OFFICIAL en es HP:0010639 Elevated alkaline phosphatase of bone origin rdfs:label Fosfatasa alcalina elevada de origen óseo OFFICIAL -en es HP:0010640 Abnormality of the nasal cavity rdfs:label Anomalía de la cavidad nasal OFFICIAL +en es HP:0010640 Abnormal nasal cavity morphology rdfs:label Anomalía de la cavidad nasal CANDIDATE en es HP:0010641 Abnormality of the midnasal cavity rdfs:label Anomalía de la cavidad medionasal OFFICIAL en es HP:0010643 Midnasal atresia rdfs:label Atresia de la parte media de la nariz OFFICIAL en es HP:0010644 Midnasal stenosis rdfs:label Estenosis de la parte media de la nariz OFFICIAL @@ -7771,12 +7771,12 @@ en es HP:0011108 Recurrent sinusitis rdfs:label Sinusitis recurrente OFFICIAL en es HP:0011109 Chronic sinusitis rdfs:label Sinusitis crónica OFFICIAL en es HP:0011110 Recurrent tonsillitis rdfs:label Amigdalitis CANDIDATE en es HP:0011111 Abnormal immune serum protein physiology rdfs:label Alteración de la función de proteínas séricas inmunitarias CANDIDATE -en es HP:0011112 Abnormality of serum cytokine level rdfs:label Alteración del nivel de citoquinas en suero OFFICIAL +en es HP:0011112 Abnormal circulating cytokine concentration rdfs:label Alteración del nivel de citoquinas en suero CANDIDATE en es HP:0011113 Abnormality of cytokine secretion rdfs:label Alteración de la secreción de citoquinas OFFICIAL en es HP:0011114 Defective production of NFKB1-dependent cytokines rdfs:label Producción anómala de citoquinas NFKB1 dependientes OFFICIAL -en es HP:0011115 Abnormality of chemokine secretion rdfs:label Alteración de la secreción de quimioquinas OFFICIAL -en es HP:0011116 Abnormality of interferon secretion rdfs:label Alteración de la secreción de interferón OFFICIAL -en es HP:0011117 Abnormality of interleukin secretion rdfs:label Alteración de la secreción de interleuquina OFFICIAL +en es HP:0011115 Abnormal circulating chemokine concentration rdfs:label Alteración de la secreción de quimioquinas CANDIDATE +en es HP:0011116 Abnormal circulating interferon concentration rdfs:label Alteración de la secreción de interferón CANDIDATE +en es HP:0011117 Abnormal circulating interleukin concentration rdfs:label Alteración de la secreción de interleuquina CANDIDATE en es HP:0011118 Abnormality of tumor necrosis factor secretion rdfs:label Alteración de la secreción del factor de necrosis tumoral OFFICIAL en es HP:0011119 Abnormal nasal dorsum morphology rdfs:label Anomalía del dorso nasal CANDIDATE en es HP:0011120 Concave nasal ridge rdfs:label Cresta nasal cóncava OFFICIAL @@ -9167,7 +9167,7 @@ en es HP:0012513 Upper limb pain rdfs:label Dolor del miembro superior OFFICIAL en es HP:0012514 Lower limb pain rdfs:label Dolor de la extremidad inferior OFFICIAL en es HP:0012515 Hip flexor weakness rdfs:label Debilidad de la flexión de la cadera OFFICIAL en es HP:0012516 Tetralogy of Fallot with pulmonary atresia rdfs:label Tetralogía de Fallot con atresia pulmonar OFFICIAL -en es HP:0012517 Reduced catalase level rdfs:label Disminución de la actividad de la catalasa CANDIDATE +en es HP:0012517 Reduced circulating catalase activity rdfs:label Disminución de la actividad de la catalasa CANDIDATE en es HP:0012518 Abnormal circle of Willis morphology rdfs:label Anomalía del polígono de Willis OFFICIAL en es HP:0012519 Hypoplastic posterior communicating artery rdfs:label Arteria comunicante posterior hipoplásica OFFICIAL en es HP:0012520 Dilation of Virchow-Robin spaces rdfs:label Espacios perivasculares CANDIDATE @@ -9578,7 +9578,7 @@ en es HP:0020059 Increased red blood cell count rdfs:label Aumento del recuento en es HP:0020060 Decreased red blood cell count rdfs:label Disminución del recuento de glóbulos rojos. OFFICIAL en es HP:0020061 Abnormal hemoglobin concentration rdfs:label Concentración anormal de hemoglobina OFFICIAL en es HP:0020062 Decreased hemoglobin concentration rdfs:label Disminución de la concentración de hemoglobina. OFFICIAL -en es HP:0020063 Increased hemoglobin concentration rdfs:label Aumento de la concentración de hemoglobina. OFFICIAL +en es HP:0020063 obsolete Increased hemoglobin concentration rdfs:label Aumento de la concentración de hemoglobina. CANDIDATE en es HP:0020064 Abnormal eosinophil count rdfs:label Recuento anormal de eosinófilos OFFICIAL en es HP:0020071 Viremia rdfs:label Viremia OFFICIAL en es HP:0020072 Persistent EBV viremia rdfs:label Viremia de virus Ebstein-Barr persistente OFFICIAL @@ -9676,7 +9676,7 @@ en es HP:0020171 Decreased blood drug concentration rdfs:label Disminución de l en es HP:0020172 Adverse drug response rdfs:label Respuesta adversa al fármaco OFFICIAL en es HP:0020173 Reduced drug efficacy rdfs:label Eficacia farmacológica reducida OFFICIAL en es HP:0020174 Refractory drug response rdfs:label Respuesta farmacológica refractaria OFFICIAL -en es HP:0020175 Reduced cholinesterase level rdfs:label Disminución del nivel de colinesterasa OFFICIAL +en es HP:0020175 Reduced circulating cholinesterase activity rdfs:label Disminución del nivel de colinesterasa CANDIDATE en es HP:0020176 Cholesterol crystalluria rdfs:label Cristaluria de colesterol OFFICIAL en es HP:0020177 Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells rdfs:label Proporción anormal de células T alfa-beta TEMRA positivas para CD8 OFFICIAL en es HP:0020178 Abnormal dendritic cell count rdfs:label Recuento anormal de células dendríticas OFFICIAL @@ -9703,7 +9703,7 @@ en es HP:0020198 Abnormal circulating 18-hydroxycorticosterone level rdfs:label en es HP:0020199 Decreased circulating 18-hydroxycortisone level rdfs:label Disminución del nivel de 18-hidroxicortisona circulante OFFICIAL en es HP:0020200 Increased circulating 18-hydroxycortisone level rdfs:label Aumento del nivel de 18-hidroxicortisona circulante OFFICIAL en es HP:0020201 Abnormal sarcomere morphology rdfs:label Morfología anormal del sarcómero OFFICIAL -en es HP:0020202 Abnormal Z disc morphology rdfs:label Morfología anormal del disco Z OFFICIAL +en es HP:0020202 Abnormal Z disk morphology rdfs:label Morfología anormal del disco Z CANDIDATE en es HP:0020203 Z-band streaming rdfs:label Desestrucutación miofibrillar de la banda Z OFFICIAL en es HP:0020204 Tubulointerstitial bacterial infiltration rdfs:label Infiltración bacteriana tubulointersticial OFFICIAL en es HP:0020205 Tubulointerstitial fungal infiltration rdfs:label Infiltración micótica tubulointersticial OFFICIAL @@ -10681,7 +10681,7 @@ en es HP:0030268 Hyperplastic callus formation rdfs:label Formación de callos h en es HP:0030269 Increased circulating insulin-like growth factor 1 concentration rdfs:label Aumento sérico del IGF1 CANDIDATE en es HP:0030270 Elevated red cell adenosine deaminase activity rdfs:label Aumento de la actividad de adenosina desaminasa de glóbulos rojos OFFICIAL en es HP:0030271 Reduced erythrocyte 2,3-diphosphoglycerate concentration rdfs:label Disminución de la concentración de 2,3-difosfoglicerato de eritrocitos OFFICIAL -en es HP:0030272 Abnormal erythrocyte enzyme level rdfs:label Actividad enzimática eritrocítica anormal CANDIDATE +en es HP:0030272 Abnormal erythrocyte enzyme concentration or activity rdfs:label Actividad enzimática eritrocítica anormal CANDIDATE en es HP:0030273 Reduced red cell adenosine deaminase level rdfs:label Disminución de la actividad de adenosina desaminasa de glóbulos rojos CANDIDATE en es HP:0030274 Accessory scrotum rdfs:label Escroto accesorio OFFICIAL en es HP:0030275 Ectopic scrotum rdfs:label Escroto ectópico OFFICIAL @@ -10706,7 +10706,7 @@ en es HP:0030295 Metaphyseal chondromatosis of femur rdfs:label Condromatosis me en es HP:0030296 Metaphyseal chondromatosis of radius rdfs:label Condromatosis metafisaria de radio OFFICIAL en es HP:0030297 Metaphyseal chondromatosis of ulna rdfs:label Condromatosis metafisaria del cúbito OFFICIAL en es HP:0030298 Metaphyseal chondromatosis of humerus rdfs:label Condromatosis metafisaria del húmero OFFICIAL -en es HP:0030299 Distal femoral metaphyseal abnormality rdfs:label Anomalía metafisaria femoral distal OFFICIAL +en es HP:0030299 Abnormal distal femoral metaphysis morphology rdfs:label Anomalía metafisaria femoral distal CANDIDATE en es HP:0030300 10 pairs of ribs rdfs:label 10 pares de costillas OFFICIAL en es HP:0030301 Abnormality of the anterior commissure rdfs:label Anomalía de la comisura anterior cerebral OFFICIAL en es HP:0030302 Agenesis of the anterior commissure rdfs:label Agenesia de la comisura anterior cerebral OFFICIAL @@ -10756,7 +10756,7 @@ en es HP:0030350 Erythematous papule rdfs:label Pápula eritematosa OFFICIAL en es HP:0030351 Urticarial plaque rdfs:label Placa de urticaria OFFICIAL en es HP:0030352 Abnormal serum insulin-like growth factor 1 level rdfs:label Nivel sérico anormal de IGF1 OFFICIAL en es HP:0030353 Decreased serum insulin-like growth factor 1 rdfs:label Disminución sérica del IGF1 OFFICIAL -en es HP:0030354 Abnormal circulating interferon concentration rdfs:label Nivel sérico anormal de interferón CANDIDATE +en es HP:0030354 obsolete Abnormal circulating interferon concentration rdfs:label Nivel sérico anormal de interferón CANDIDATE en es HP:0030355 Abnormal circulating interferon-gamma concentration rdfs:label Nivel sérico anormal de interferón gamma CANDIDATE en es HP:0030356 Increased circulating interferon-gamma concentration rdfs:label Aumento del nivel sérico de interferón gamma CANDIDATE en es HP:0030357 Small cell lung carcinoma rdfs:label Carcinoma de pulmón de células pequeñas OFFICIAL @@ -11163,7 +11163,7 @@ en es HP:0030778 Modic type III vertebral endplate changes rdfs:label Cambios en en es HP:0030779 Ethmocephaly rdfs:label Etmocefalia OFFICIAL en es HP:0030780 Abnormality of the protein C anticoagulant pathway rdfs:label Anomalía de la vía anticoagulante de la proteína C OFFICIAL en es HP:0030781 Increased circulating free fatty acid level rdfs:label Aumento del nivel de ácidos grasos libres circulantes OFFICIAL -en es HP:0030782 Abnormal circulating interleukin concentration rdfs:label Nivel anormal de interleukina sérica CANDIDATE +en es HP:0030782 obsolete Abnormal circulating interleukin concentration rdfs:label Nivel anormal de interleukina sérica CANDIDATE en es HP:0030783 Increased circulating interleukin 6 concentration rdfs:label Aumento de la interleukna-6 sérica CANDIDATE en es HP:0030784 Anomic aphasia rdfs:label Anomia CANDIDATE en es HP:0030785 Mediastinal cystic lymphangioma rdfs:label Linfangioma quístico mediastínico OFFICIAL @@ -11471,7 +11471,7 @@ en es HP:0031096 Delayed vertebral ossification rdfs:label Osificación vertebra en es HP:0031097 Abnormal thyroid-stimulating hormone level rdfs:label Nivel anormal de la hormona estimulante de la tiroides OFFICIAL en es HP:0031098 Decreased thyroid-stimulating hormone level rdfs:label Disminución del nivel de la hormona estimulante de la tiroides OFFICIAL en es HP:0031099 Abnormal circulating inhibin level rdfs:label Nivel de inhibina circulante anormal OFFICIAL -en es HP:0031100 Decreased inhibin B level rdfs:label Disminución del nivel de inhibina B OFFICIAL +en es HP:0031100 Decreased circulating inhibin B concentration rdfs:label Disminución del nivel de inhibina B CANDIDATE en es HP:0031101 Abnormal circulating antimullerian hormone concentration rdfs:label Nivel anormal de hormona antimulleriana CANDIDATE en es HP:0031102 Increased circulating antimullerian hormone concentration rdfs:label Aumento del nivel de hormona antimulleriana CANDIDATE en es HP:0031103 Decreased cirrculating antimullerian hormone circulation rdfs:label Disminución del nivel de hormona antimulleriana CANDIDATE @@ -11504,7 +11504,7 @@ en es HP:0031134 Cor triatrium sinister rdfs:label Cor triatrium izquierdo OFFIC en es HP:0031135 Triggered by physical trauma rdfs:label Desencadenado por un trauma físico OFFICIAL en es HP:0031136 Decreased acrosin in sperm head rdfs:label Disminución de acrosina en la cabeza de esperma OFFICIAL en es HP:0031137 Storage in hepatocytes rdfs:label Almacenamiento en hepatocitos OFFICIAL -en es HP:0031138 Abnormal B-type natriuretic peptide concentration rdfs:label Nivel anormal de péptido natriurético de tipo B CANDIDATE +en es HP:0031138 Abnormal circulating B-type natriuretic peptide concentration rdfs:label Nivel anormal de péptido natriurético de tipo B CANDIDATE en es HP:0031139 Frog-leg posture rdfs:label Postura en piernas de rana OFFICIAL en es HP:0031140 Abnormal liver sonography rdfs:label Ecografía hepática anormal OFFICIAL en es HP:0031141 Increased hepatic echogenicity rdfs:label Aumento de la ecogenicidad hepática OFFICIAL @@ -12590,7 +12590,7 @@ en es HP:0032268 Dural tail sign rdfs:label "Signo de ""la cola dural""" OFFICIA en es HP:0032269 Lemon sign rdfs:label Signo del limón OFFICIAL en es HP:0032270 Optic nerve tram-track sign rdfs:label "Signo de la ""señal de tranvía"" del nervio óptico" OFFICIAL en es HP:0032271 Extrapulmonary tuberculosis rdfs:label Tuberculosis extrapulmonar OFFICIAL -en es HP:0032272 Elevated urinary N-acetylaspartic acid level rdfs:label Aumento de la concentración de ácido N-acetilaspártico urinario OFFICIAL +en es HP:0032272 obsolete Elevated urinary N-acetylaspartic acid level rdfs:label Aumento de la concentración de ácido N-acetilaspártico urinario CANDIDATE en es HP:0032273 Increased circulating N-acetylaspartic acid concentration rdfs:label Aumento de la concentración de ácido N-acetilaspártico circulante. OFFICIAL en es HP:0032274 Increased CSF N-acetylaspartic acid concentration rdfs:label Aumento de la concentración de ácido N-acetilaspártico en LCR OFFICIAL en es HP:0032275 Recurrent shingles rdfs:label Herpes recurrentes OFFICIAL @@ -12837,7 +12837,7 @@ en es HP:0032526 Ameliorated by acetylcholinesterase inhibitor rdfs:label Mejora en es HP:0032527 Inferiorly positioned umbilicus rdfs:label Ombligo implantado más abajo OFFICIAL en es HP:0032528 Elevated urinary 4-hydroxybutyric acid rdfs:label Elevación del acido 4-hidroxibutírico urinario OFFICIAL en es HP:0032529 obsolete Elevated circulating gamma-aminobutyric acid concentration rdfs:label Elevación de la concentración de ácido gamma-aminobutírico circulante CANDIDATE -en es HP:0032530 Decreased succinic semialdehyde dehydrogenase level rdfs:label Disminución de la actividad de la semialdehído deshidrogenasa succínica CANDIDATE +en es HP:0032530 Decreased tissue succinic semialdehyde dehydrogenase activity rdfs:label Disminución de la actividad de la semialdehído deshidrogenasa succínica CANDIDATE en es HP:0032531 Elevated CSF gamma-aminobutyric acid concentration rdfs:label Elevación de la concentración de ácido gamma-aminobutírico en LCR OFFICIAL en es HP:0032532 Elevated CSF 4-hydroxybutyric acid concentration rdfs:label Elevación de la concentración de ácido CSF ​​4-hidroxibutírico OFFICIAL en es HP:0032533 Elevated circulating acetone concentration rdfs:label Acetona circulante elevada CANDIDATE @@ -15300,7 +15300,7 @@ en es HP:0034991 Shoulder external rotation contracture rdfs:label Contractura e en es HP:0034992 Thumb adduction contracture rdfs:label Contractura en aducción del pulgar OFFICIAL en es HP:0034993 Hip internal rotation contracture rdfs:label Contractura de rotación interna de cadera OFFICIAL en es HP:0034994 obsolete Elevated circulating saccharopine concentration rdfs:label Aumento de la concentración de sacaropina circulante CANDIDATE -en es HP:0034995 Reduced hepatic fructose-1,6-bisphosphatase activity rdfs:label Disminución de la actividad de la fructosa-1,6-bisfosfatasa hepática OFFICIAL +en es HP:0034995 Reduced tissue fructose-1,6-bisphosphatase activity rdfs:label Disminución de la actividad de la fructosa-1,6-bisfosfatasa hepática CANDIDATE en es HP:0034996 Reduced hepatic carbamoylphosphate synthetase 1 activity rdfs:label Disminución de la actividad de la carbamoilfosfato sintetasa hepática. CANDIDATE en es HP:0034997 Reduced intraepidermal small nerve fiber density rdfs:label Disminución de la densidad de fibras nerviosas pequeñas intraepidérmicas. OFFICIAL en es HP:0034998 Femoral artery duplication rdfs:label Duplicación de la arteria femoral OFFICIAL @@ -15386,7 +15386,7 @@ en es HP:0040053 Long lower eyelashes rdfs:label Pestañas inferiores largas OFF en es HP:0040054 Short upper eyelashes rdfs:label Pestañas superiores cortas OFFICIAL en es HP:0040055 Short lower eyelashes rdfs:label Pestañas inferiores cortas OFFICIAL en es HP:0040056 Absent upper eyelashes rdfs:label Ausencia de pestañas superiores OFFICIAL -en es HP:0040057 Abnormality of nasal hair rdfs:label Anomalía del pelo nasal OFFICIAL +en es HP:0040057 Abnormal nasal hair morphology rdfs:label Anomalía del pelo nasal CANDIDATE en es HP:0040059 Calcification of ribs rdfs:label Calcificación de costillas OFFICIAL en es HP:0040061 Osteosclerosis of the radius rdfs:label Osteosclerosis del radio OFFICIAL en es HP:0040062 Slender radius rdfs:label Radio delgado OFFICIAL @@ -15451,7 +15451,7 @@ en es HP:0040126 Abnormal circulating vitamin B12 concentration rdfs:label Nivel en es HP:0040127 Abnormal sweat homeostasis rdfs:label Homeostasis anormal del sudor OFFICIAL en es HP:0040128 Abnormal sweat electrolytes rdfs:label Electrolitos del sudor anormales OFFICIAL en es HP:0040129 Abnormal nerve conduction velocity rdfs:label Velocidad de conducción nerviosa anormal OFFICIAL -en es HP:0040130 Abnormal serum iron concentration rdfs:label Hierro sérico anormal OFFICIAL +en es HP:0040130 Abnormal circulating iron concentration rdfs:label Hierro sérico anormal CANDIDATE en es HP:0040131 Abnormal motor nerve conduction velocity rdfs:label Velocidad de conducción nerviosa motora anormal OFFICIAL en es HP:0040132 Abnormal sensory nerve conduction velocity rdfs:label Velocidad de conducción nerviosa sensorial anormal OFFICIAL en es HP:0040133 Abnormal circulating ferritin concentration rdfs:label Ferritina sérica anormal CANDIDATE @@ -15462,7 +15462,7 @@ en es HP:0040138 Mucinous histiocytosis rdfs:label Histiocitosis mucinosa OFFICI en es HP:0040139 Lipogranulomatosis rdfs:label Lipogranulomatosis OFFICIAL en es HP:0040140 Degeneration of the striatum rdfs:label Degeneración del cuerpo estriado OFFICIAL en es HP:0040141 Tardive dyskinesia rdfs:label Disquinesia tardía OFFICIAL -en es HP:0040142 Reduced 5-oxoprolinase level rdfs:label Deficiencia de 5-oxoprolinasa CANDIDATE +en es HP:0040142 Reduced circulating 5-oxoprolinase activity rdfs:label Deficiencia de 5-oxoprolinasa CANDIDATE en es HP:0040143 Dystopic os odontoideum rdfs:label Distopia del hueso odontoideo OFFICIAL en es HP:0040144 L-2-hydroxyglutaric aciduria rdfs:label Aciduria L-2-hidroxiglutárica OFFICIAL en es HP:0040145 Dicarboxylic acidemia rdfs:label Acidemia dicarboxílica OFFICIAL @@ -15620,7 +15620,7 @@ en es HP:0040299 Decreased circulating free fatty acid level rdfs:label Disminuc en es HP:0040300 Abnormal circulating free fatty acid concentration rdfs:label Nivel de ácidos grasos libres circulantes anormales OFFICIAL en es HP:0040301 Increased urinary glycerol rdfs:label Aumento de glicerol en la orina OFFICIAL en es HP:0040302 Hyperglycerolemia rdfs:label Hiperglicerolemia OFFICIAL -en es HP:0040303 Decreased serum iron rdfs:label Disminución del hierro sérico OFFICIAL +en es HP:0040303 Decreased circulating iron concentration rdfs:label Disminución del hierro sérico CANDIDATE en es HP:0040304 Duplication of the sella turcica rdfs:label Duplicación de la silla turca OFFICIAL en es HP:0040305 Increased male libido rdfs:label Aumento de la libido masculina OFFICIAL en es HP:0040306 Decreased male libido rdfs:label Disminución de la libido masculina OFFICIAL @@ -16791,7 +16791,7 @@ en es HP:0100958 Narrow foramen obturatorium rdfs:label Agujero obturador estrec en es HP:0100959 Dense metaphyseal bands rdfs:label Bandas metafisarias densas OFFICIAL en es HP:0100960 Lateral ventricular asymmetry rdfs:label Ventrículos cerebrales asimétricos CANDIDATE en es HP:0100961 Enlarged hippocampus rdfs:label Aumento en el tamaño del hipocampo OFFICIAL -en es HP:0100962 Shyness rdfs:label Timidez OFFICIAL +en es HP:0100962 Excessive shyness rdfs:label Timidez CANDIDATE en es HP:0100963 Hyperesthesia rdfs:label Hiperestesia OFFICIAL en es HP:0200000 Dysharmonic skeletal maturation rdfs:label Edad ósea disarmónica CANDIDATE en es HP:0200001 Dysharmonic accelerated bone age rdfs:label Edad ósea acelerada disarmónica (no coincidente entre huesos) OFFICIAL @@ -17018,13 +17018,13 @@ en es HP:0410188 Decreased glucose-6-phosphate dehydrogenase level in red blood en es HP:0410189 Increased glucose-6-phosphate dehydrogenase level in red blood cells rdfs:label Aumento del nivel de glucosa-6-fosfato deshidrogenasa en los glóbulos rojos OFFICIAL en es HP:0410190 Decreased glucose-6-phosphate dehydrogenase level in leukocytes rdfs:label Disminución del nivel de glucosa-6-fosfato deshidrogenasa en los leucocitos OFFICIAL en es HP:0410191 Increased glucose-6-phosphate dehydrogenase level in leukocytes rdfs:label Aumento del nivel de glucosa-6-fosfato deshidrogenasa en los leucocitos OFFICIAL -en es HP:0410192 Abnormal uridine diphosphate glucose-4-epimerase level rdfs:label Actividad anormal de uridina difosfato glucosa-4-epimerasa CANDIDATE -en es HP:0410193 Abnormal uridine diphosphate glucose-4-epimerase level in plasma rdfs:label Actividad anormal de uridina difosfato glucosa-4-epimerasa en plasma CANDIDATE -en es HP:0410194 Increased uridine diphosphate glucose-4-epimerase level in plasma rdfs:label Aumento de la actividad uridina difosfato glucosa-4-epimerasa en plasma CANDIDATE -en es HP:0410195 Decreased uridine diphosphate glucose-4-epimerase level in plasma rdfs:label Disminución de la actividad uridina difosfato glucosa-4-epimerasa en plasma CANDIDATE -en es HP:0410196 Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells rdfs:label Actividad anormal de uridina difosfato glucosa-4-epimerasa en glóbulos rojos CANDIDATE -en es HP:0410197 Increased uridine diphosphate glucose-4-epimerase level in red blood cells rdfs:label Aumento de la actividad uridina difosfato glucosa-4-epimerasa en los glóbulos rojos CANDIDATE -en es HP:0410198 Decreased uridine diphosphate glucose-4-epimerase level in red blood cells rdfs:label Disminución de la actividad de la uridina difosfato glucosa-4-epimerasa en los glóbulos rojos CANDIDATE +en es HP:0410192 obsolete Abnormal uridine diphosphate glucose-4-epimerase level rdfs:label Actividad anormal de uridina difosfato glucosa-4-epimerasa CANDIDATE +en es HP:0410193 Abnormal circulating UDP glucose-4-epimerase concentration rdfs:label Actividad anormal de uridina difosfato glucosa-4-epimerasa en plasma CANDIDATE +en es HP:0410194 Increased circulating UDP glucose-4-epimerase concentration rdfs:label Aumento de la actividad uridina difosfato glucosa-4-epimerasa en plasma CANDIDATE +en es HP:0410195 Decreased circulating UDP glucose-4-epimerase concentration rdfs:label Disminución de la actividad uridina difosfato glucosa-4-epimerasa en plasma CANDIDATE +en es HP:0410196 Abnormal erythrocyte UDP glucose-4-epimerase concentration rdfs:label Actividad anormal de uridina difosfato glucosa-4-epimerasa en glóbulos rojos CANDIDATE +en es HP:0410197 Increased erythrocyte UDP glucose-4-epimerase concentration rdfs:label Aumento de la actividad uridina difosfato glucosa-4-epimerasa en los glóbulos rojos CANDIDATE +en es HP:0410198 Decreased erythrocyte UDP glucose-4-epimerase concentration rdfs:label Disminución de la actividad de la uridina difosfato glucosa-4-epimerasa en los glóbulos rojos CANDIDATE en es HP:0410199 Increased CSF urate concentration rdfs:label Aumento de la concentración de urato en LCR OFFICIAL en es HP:0410200 Positive meconium barbiturate test rdfs:label Prueba positiva de barbitúricos en meconio OFFICIAL en es HP:0410201 Positive hair barbiturate test rdfs:label Prueba positiva de barbitúricos en el cabello OFFICIAL @@ -17490,7 +17490,7 @@ en es HP:0550005 Bilateral basilar pulmonary fibrosis rdfs:label Fibrosis pulmon en es HP:3000001 obsolete Abnormal heart morphology rdfs:label obsoleto Morfología anormal del corazón OFFICIAL en es HP:3000002 Abnormal inner ear epithelium morphology rdfs:label Morfología anormal del epitelio del oído interno OFFICIAL en es HP:3000003 Abnormal mandibular ramus morphology rdfs:label Morfología anormal de la rama mandibular OFFICIAL -en es HP:3000004 Abnormality of frontalis muscle belly rdfs:label Anomalía del músculo frontal OFFICIAL +en es HP:3000004 Abnormal frontalis muscle physiology rdfs:label Anomalía del músculo frontal CANDIDATE en es HP:3000005 Abnormality of masseter muscle rdfs:label Anomalía del músculo masetero OFFICIAL en es HP:3000006 Abnormality of medial pterygoid muscle rdfs:label Anomalía del músculo pterigoideo medial OFFICIAL en es HP:3000007 Abnormality of mentalis muscle rdfs:label Anomalía del músculo mentoneano OFFICIAL @@ -17591,7 +17591,7 @@ en es HP:4000023 Anti-laminin gamma1 antibody positivity rdfs:label Positividad en es HP:4000024 Anti-laminin antibody positivity rdfs:label Positividad de anticuerpos anti-laminina OFFICIAL en es HP:4000025 Anti-integrin antibody positivity rdfs:label Positividad de anticuerpos anti-integrina OFFICIAL en es HP:4000026 Anti-transglutaminase 6 antibody rdfs:label Anticuerpo antitransglutaminasa 6 OFFICIAL -en es HP:4000027 anti-LAD-1 antibody positivity rdfs:label positividad del anticuerpo anti-LAD-1 OFFICIAL +en es HP:4000027 Anti-LAD-1 antibody positivity rdfs:label positividad del anticuerpo anti-LAD-1 OFFICIAL en es HP:4000028 Anti-LABD97 antibody positivity rdfs:label Positividad de anticuerpos anti-LABD97 OFFICIAL en es HP:4000029 Antigliadin antibody positivity rdfs:label Positividad de anticuerpos antigliadina OFFICIAL en es HP:4000030 Anti-reticulin antibody positivity rdfs:label Positividad de anticuerpos anti-reticulina OFFICIAL @@ -17826,9 +17826,9 @@ en es HP:5200013 Ambiguous facial expression rdfs:label Expresión facial ambigu en es HP:5200014 Exaggerated facial expression rdfs:label Expresión facial exagerada OFFICIAL en es HP:5200015 Muted facial expression rdfs:label Expresión facial apagada OFFICIAL en es HP:5200016 Abnormal peer relationships rdfs:label Relaciones anormales con los compañeros OFFICIAL -en es HP:5200017 Abnormal movements of face and head rdfs:label Movimientos anormales de la cara y la cabeza. OFFICIAL -en es HP:5200018 Abnormal movements of the upper extremities rdfs:label Movimientos anormales de las extremidades superiores OFFICIAL -en es HP:5200019 Abnormal movements of the whole body rdfs:label Movimientos anormales de todo el cuerpo OFFICIAL +en es HP:5200017 Steroetypic movements of face and head rdfs:label Movimientos anormales de la cara y la cabeza. CANDIDATE +en es HP:5200018 Steroetypic upper-extremity movements rdfs:label Movimientos anormales de las extremidades superiores CANDIDATE +en es HP:5200019 Stereotypic whole-body movements rdfs:label Movimientos anormales de todo el cuerpo CANDIDATE en es HP:5200020 Abnormal interest in others rdfs:label Interés anormal en las demás personas OFFICIAL en es HP:5200021 Reduced social insight rdfs:label Perspicacia social reducida OFFICIAL en es HP:5200022 Reduced awareness of convention rdfs:label Disminucion de la toma de conciencia esperada en las interacciones sociales OFFICIAL @@ -17843,7 +17843,7 @@ en es HP:5200031 obsolete Deferred imitation of others rdfs:label Obsoleto Imita en es HP:5200032 obsolete Reduced immediate imitation of others rdfs:label Obsoleto. Reducción de la imitación inmediata de los demás. OFFICIAL en es HP:5200035 Reduced cooperative imaginative play rdfs:label Disminución de la actitud al juego imaginativo colaborativo CANDIDATE en es HP:5200036 Reduced responsiveness to verbal cues rdfs:label Falta de respuesta a señales verbales. CANDIDATE -en es HP:5200037 Lack of expressed empath rdfs:label Expresión simpática reducida. CANDIDATE +en es HP:5200037 Lack of expressed empathy rdfs:label Expresión simpática reducida. CANDIDATE en es HP:5200038 Bradylalia rdfs:label Bradilalia OFFICIAL en es HP:5200039 Excessively loud speech rdfs:label Volumen de la voz excesivamente alta OFFICIAL en es HP:5200040 Excessively quiet voice rdfs:label Voz excesivamente baja OFFICIAL @@ -17934,7 +17934,7 @@ en es HP:5200231 Hypervigilance rdfs:label Hipervigilancia OFFICIAL en es HP:5200232 Phobia rdfs:label Fobia OFFICIAL en es HP:5200233 Anticipatory anxiety rdfs:label Ansiedad anticipatoria OFFICIAL en es HP:5200234 Flight of ideas rdfs:label Vuelo de ideas OFFICIAL -en es HP:5200235 Thought disorder rdfs:label Trastorno del pensamiento OFFICIAL +en es HP:5200235 Disorganized speech or communication rdfs:label Trastorno del pensamiento CANDIDATE en es HP:5200237 Pronunciation difficulties rdfs:label Dificultades de pronunciación OFFICIAL en es HP:5200238 Vowel expressive impediment rdfs:label Impedimento expresivo vocal OFFICIAL en es HP:5200239 Consonant expressive impediment rdfs:label Impedimento expresivo consonante OFFICIAL diff --git a/src/translations/hp-es.babelon.owl b/src/translations/hp-es.babelon.owl index 7bd67a8e9..50a57eb2b 100644 --- a/src/translations/hp-es.babelon.owl +++ b/src/translations/hp-es.babelon.owl @@ -9,8 +9,8 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:babelon="https://w3id.org/babelon/"> - - 2024-03-06 + + 2024-04-03 @@ -3942,9 +3942,9 @@ Anomalía de las coanas en - Abnormality of the choanae + Abnormal choanae morphology es - OFFICIAL + CANDIDATE Nariz fina @@ -7014,7 +7014,7 @@ Comportamiento estereottipado en - Abnormal repetitive mannerisms + Motor stereotypy es CANDIDATE @@ -17106,9 +17106,9 @@ Aumento de la hemoglobina en - Increased hemoglobin + Increased circulating hemoglobin concentration es - OFFICIAL + CANDIDATE Policitemia @@ -24618,9 +24618,9 @@ Hendidura de labio y paladar bilateral en - Bilateral cleft lip and palate + obsolete Bilateral cleft lip and palate es - OFFICIAL + CANDIDATE Leucoplasia oral @@ -30726,9 +30726,9 @@ Aumento de hierro sérico en - Increased serum iron + Increased circulating iron concentration es - OFFICIAL + CANDIDATE Positividad de anticuerpos antineutrófilos @@ -31974,7 +31974,7 @@ Disminución de la actividad de 4 hidroxifenilpiruvato dioxigenasa en - Reduced 4-Hydroxyphenylpyruvate dioxygenase level + Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity es CANDIDATE @@ -38670,9 +38670,9 @@ Deficiencia del complemento en - Complement deficiency + Reduced circulating complement concentration es - OFFICIAL + CANDIDATE Agammaglobulinemia @@ -44610,9 +44610,9 @@ Anomalía de la región nasolabial en - Abnormality of the nasolabial region + Abnormal nasolabial region morphology es - OFFICIAL + CANDIDATE Hipoplasia de la arteria carótida interna @@ -52182,9 +52182,9 @@ Metáfisis femorales anchas en - Broad femoral metaphyses + Wide femoral metaphysis es - OFFICIAL + CANDIDATE Displasia radial asimétrica @@ -52254,9 +52254,9 @@ Anomalías metafisaria de fémur distal y proximal en - Proximal femoral metaphyseal abnormality + Abnormal proximal femoral metaphysis morphology es - OFFICIAL + CANDIDATE Cóndilos femorales distales en forma trapezoide @@ -66534,9 +66534,9 @@ Degeneración del disco intervertebral en - Intervertebral disc degeneration + Intervertebral disk degeneration es - OFFICIAL + CANDIDATE Calcificaciones punctatas vertebrales @@ -67302,9 +67302,9 @@ Ausencia de dentición permanente en - No permanent dentition + obsolete No permanent dentition es - OFFICIAL + CANDIDATE Hipermetropía de alto grado @@ -67326,9 +67326,9 @@ Hendidura central de labio y paladar en - Median cleft lip and palate + obsolete Median cleft lip and palate es - OFFICIAL + CANDIDATE Discapacidad auditiva/hipoacusia neurosensorial moderada @@ -67926,9 +67926,9 @@ Hipertrofia de la vejiga urinaria en - Hypertrophy of the urinary bladder + Urinary bladder wall hypertrophy es - OFFICIAL + CANDIDATE Glomerulopatía lobular @@ -76218,9 +76218,9 @@ Neurofibromas ocasionales en - Occasional neurofibromas + obsolete Occasional neurofibromas es - OFFICIAL + CANDIDATE Aplasia de la falange proximal del segundo dedo de la mano @@ -79662,9 +79662,9 @@ Persistencia de la arteria hialoidea en - Vascular remnant arising from the disc + Vascular remnant arising from the disk es - OFFICIAL + CANDIDATE Aplasia / hipoplasia de la nariz @@ -87318,9 +87318,9 @@ Epífisis triangulares en - Triangular epiphyses + Triangular epiphysis es - OFFICIAL + CANDIDATE Fusión prematura epimetafisiaria @@ -87906,9 +87906,9 @@ Anomalía de la cavidad nasal en - Abnormality of the nasal cavity + Abnormal nasal cavity morphology es - OFFICIAL + CANDIDATE Anomalía de la cavidad medionasal @@ -93330,9 +93330,9 @@ Alteración del nivel de citoquinas en suero en - Abnormality of serum cytokine level + Abnormal circulating cytokine concentration es - OFFICIAL + CANDIDATE Alteración de la secreción de citoquinas @@ -93366,9 +93366,9 @@ Alteración de la secreción de quimioquinas en - Abnormality of chemokine secretion + Abnormal circulating chemokine concentration es - OFFICIAL + CANDIDATE Alteración de la secreción de interferón @@ -93378,9 +93378,9 @@ Alteración de la secreción de interferón en - Abnormality of interferon secretion + Abnormal circulating interferon concentration es - OFFICIAL + CANDIDATE Alteración de la secreción de interleuquina @@ -93390,9 +93390,9 @@ Alteración de la secreción de interleuquina en - Abnormality of interleukin secretion + Abnormal circulating interleukin concentration es - OFFICIAL + CANDIDATE Alteración de la secreción del factor de necrosis tumoral @@ -110082,7 +110082,7 @@ Disminución de la actividad de la catalasa en - Reduced catalase level + Reduced circulating catalase activity es CANDIDATE @@ -115014,9 +115014,9 @@ Aumento de la concentración de hemoglobina. en - Increased hemoglobin concentration + obsolete Increased hemoglobin concentration es - OFFICIAL + CANDIDATE Recuento anormal de eosinófilos @@ -116190,9 +116190,9 @@ Disminución del nivel de colinesterasa en - Reduced cholinesterase level + Reduced circulating cholinesterase activity es - OFFICIAL + CANDIDATE Cristaluria de colesterol @@ -116514,9 +116514,9 @@ Morfología anormal del disco Z en - Abnormal Z disc morphology + Abnormal Z disk morphology es - OFFICIAL + CANDIDATE Desestrucutación miofibrillar de la banda Z @@ -128250,7 +128250,7 @@ Actividad enzimática eritrocítica anormal en - Abnormal erythrocyte enzyme level + Abnormal erythrocyte enzyme concentration or activity es CANDIDATE @@ -128550,9 +128550,9 @@ Anomalía metafisaria femoral distal en - Distal femoral metaphyseal abnormality + Abnormal distal femoral metaphysis morphology es - OFFICIAL + CANDIDATE 10 pares de costillas @@ -129150,7 +129150,7 @@ Nivel sérico anormal de interferón en - Abnormal circulating interferon concentration + obsolete Abnormal circulating interferon concentration es CANDIDATE @@ -134034,7 +134034,7 @@ Nivel anormal de interleukina sérica en - Abnormal circulating interleukin concentration + obsolete Abnormal circulating interleukin concentration es CANDIDATE @@ -137730,9 +137730,9 @@ Disminución del nivel de inhibina B en - Decreased inhibin B level + Decreased circulating inhibin B concentration es - OFFICIAL + CANDIDATE Nivel anormal de hormona antimulleriana @@ -138126,7 +138126,7 @@ Nivel anormal de péptido natriurético de tipo B en - Abnormal B-type natriuretic peptide concentration + Abnormal circulating B-type natriuretic peptide concentration es CANDIDATE @@ -151158,9 +151158,9 @@ Aumento de la concentración de ácido N-acetilaspártico urinario en - Elevated urinary N-acetylaspartic acid level + obsolete Elevated urinary N-acetylaspartic acid level es - OFFICIAL + CANDIDATE Aumento de la concentración de ácido N-acetilaspártico circulante. @@ -154122,7 +154122,7 @@ Disminución de la actividad de la semialdehído deshidrogenasa succínica en - Decreased succinic semialdehyde dehydrogenase level + Decreased tissue succinic semialdehyde dehydrogenase activity es CANDIDATE @@ -183678,9 +183678,9 @@ Disminución de la actividad de la fructosa-1,6-bisfosfatasa hepática en - Reduced hepatic fructose-1,6-bisphosphatase activity + Reduced tissue fructose-1,6-bisphosphatase activity es - OFFICIAL + CANDIDATE Disminución de la actividad de la carbamoilfosfato sintetasa hepática. @@ -184710,9 +184710,9 @@ Anomalía del pelo nasal en - Abnormality of nasal hair + Abnormal nasal hair morphology es - OFFICIAL + CANDIDATE Calcificación de costillas @@ -185490,9 +185490,9 @@ Hierro sérico anormal en - Abnormal serum iron concentration + Abnormal circulating iron concentration es - OFFICIAL + CANDIDATE Velocidad de conducción nerviosa motora anormal @@ -185622,7 +185622,7 @@ Deficiencia de 5-oxoprolinasa en - Reduced 5-oxoprolinase level + Reduced circulating 5-oxoprolinase activity es CANDIDATE @@ -187518,9 +187518,9 @@ Disminución del hierro sérico en - Decreased serum iron + Decreased circulating iron concentration es - OFFICIAL + CANDIDATE Duplicación de la silla turca @@ -201570,9 +201570,9 @@ Timidez en - Shyness + Excessive shyness es - OFFICIAL + CANDIDATE Hiperestesia @@ -204294,7 +204294,7 @@ Actividad anormal de uridina difosfato glucosa-4-epimerasa en - Abnormal uridine diphosphate glucose-4-epimerase level + obsolete Abnormal uridine diphosphate glucose-4-epimerase level es CANDIDATE @@ -204306,7 +204306,7 @@ Actividad anormal de uridina difosfato glucosa-4-epimerasa en plasma en - Abnormal uridine diphosphate glucose-4-epimerase level in plasma + Abnormal circulating UDP glucose-4-epimerase concentration es CANDIDATE @@ -204318,7 +204318,7 @@ Aumento de la actividad uridina difosfato glucosa-4-epimerasa en plasma en - Increased uridine diphosphate glucose-4-epimerase level in plasma + Increased circulating UDP glucose-4-epimerase concentration es CANDIDATE @@ -204330,7 +204330,7 @@ Disminución de la actividad uridina difosfato glucosa-4-epimerasa en plasma en - Decreased uridine diphosphate glucose-4-epimerase level in plasma + Decreased circulating UDP glucose-4-epimerase concentration es CANDIDATE @@ -204342,7 +204342,7 @@ Actividad anormal de uridina difosfato glucosa-4-epimerasa en glóbulos rojos en - Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells + Abnormal erythrocyte UDP glucose-4-epimerase concentration es CANDIDATE @@ -204354,7 +204354,7 @@ Aumento de la actividad uridina difosfato glucosa-4-epimerasa en los glóbulos rojos en - Increased uridine diphosphate glucose-4-epimerase level in red blood cells + Increased erythrocyte UDP glucose-4-epimerase concentration es CANDIDATE @@ -204366,7 +204366,7 @@ Disminución de la actividad de la uridina difosfato glucosa-4-epimerasa en los glóbulos rojos en - Decreased uridine diphosphate glucose-4-epimerase level in red blood cells + Decreased erythrocyte UDP glucose-4-epimerase concentration es CANDIDATE @@ -209958,9 +209958,9 @@ Anomalía del músculo frontal en - Abnormality of frontalis muscle belly + Abnormal frontalis muscle physiology es - OFFICIAL + CANDIDATE Anomalía del músculo masetero @@ -211170,7 +211170,7 @@ positividad del anticuerpo anti-LAD-1 en - anti-LAD-1 antibody positivity + Anti-LAD-1 antibody positivity es OFFICIAL @@ -213990,9 +213990,9 @@ Movimientos anormales de la cara y la cabeza. en - Abnormal movements of face and head + Steroetypic movements of face and head es - OFFICIAL + CANDIDATE Movimientos anormales de las extremidades superiores @@ -214002,9 +214002,9 @@ Movimientos anormales de las extremidades superiores en - Abnormal movements of the upper extremities + Steroetypic upper-extremity movements es - OFFICIAL + CANDIDATE Movimientos anormales de todo el cuerpo @@ -214014,9 +214014,9 @@ Movimientos anormales de todo el cuerpo en - Abnormal movements of the whole body + Stereotypic whole-body movements es - OFFICIAL + CANDIDATE Interés anormal en las demás personas @@ -214194,7 +214194,7 @@ Expresión simpática reducida. en - Lack of expressed empath + Lack of expressed empathy es CANDIDATE @@ -215286,9 +215286,9 @@ Trastorno del pensamiento en - Thought disorder + Disorganized speech or communication es - OFFICIAL + CANDIDATE Dificultades de pronunciación diff --git a/src/translations/hp-fr-changed.babelon.tsv b/src/translations/hp-fr-changed.babelon.tsv index 8d1b1f954..17acc77a4 100644 --- a/src/translations/hp-fr-changed.babelon.tsv +++ b/src/translations/hp-fr-changed.babelon.tsv @@ -45,6 +45,7 @@ HP:0000372 en fr rdfs:label label of HP:0000372 (Abnormality of the auditory can HP:0000376 en fr IAO:0000115 definition of HP:0000376 (Incomplete partition of the cochlea type II) ; abnormality of the ear IWith incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation OFFICIAL Dans le cas d'une partition II incomplète, la cochlée est constituée de 1,5 tour ; les tours apicaux et médians de la cochlée sont indifférenciés et forment un apex kystique. Le vestibule est normal tandis que l'aqueduc vestibulaire est toujours élargi. L'arrêt du développement se produit à la septième semaine de gestation. HP:0000377 en fr rdfs:label label of HP:0000377 (Abnormality of the pinna) ; abnormality of the ear Abnormality of the pinna OFFICIAL Anomalie de l'auricule de l'oreille HP:0000383 en fr rdfs:label label of HP:0000383 (Abnormality of periauricular region) ; abnormality of head or neck Abnormality of periauricular region OFFICIAL Anomalie de la région péri-auriculaire +HP:0000415 en fr rdfs:label label of HP:0000415 (Abnormality of the choanae) ; abnormality of head or neck Abnormality of the choanae OFFICIAL Anomalie des choanes HP:0000419 en fr rdfs:label label of HP:0000419 (Abnormality of the nasal septum) ; abnormality of head or neck Abnormality of the nasal septum OFFICIAL Anomalie du septum nasal HP:0000422 en fr rdfs:label label of HP:0000422 (Abnormality of the nasal bridge) ; abnormality of head or neck Abnormality of the nasal bridge OFFICIAL Anomalie de l'arête nasale HP:0000429 en fr rdfs:label label of HP:0000429 (Abnormality of the nasal alae) ; abnormality of head or neck Abnormality of the nasal alae OFFICIAL Anomalie de l'aile du nez @@ -57,17 +58,20 @@ HP:0000535 en fr rdfs:label label of HP:0000535 (Sparse and thin eyebrow) ; abn HP:0000535 en fr rdfs:label label of HP:0000535 (Sparse and thin eyebrow) ; abnormality of the integument ; abnormality of head or neck Sparse and thin eyebrow OFFICIAL Fins sourcils clairsemés HP:0000535 en fr rdfs:label label of HP:0000535 (Sparse and thin eyebrow) ; abnormality of the integument ; abnormality of head or neck Sparse and thin eyebrow OFFICIAL Fins sourcils clairsemés HP:0000535 en fr rdfs:label label of HP:0000535 (Sparse and thin eyebrow) ; abnormality of the integument ; abnormality of head or neck Sparse and thin eyebrow OFFICIAL Fins sourcils clairsemés +HP:0000543 en fr IAO:0000115 definition of HP:0000543 (Optic disc pallor) ; abnormality of the eye A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression OFFICIAL Une coloration jaune pâle du disque optique (zone de la tête du nerf optique dans la rétine). Le disque optique a normalement une teinte rosée avec une dépression centrale jaunâtre. HP:0000551 en fr rdfs:label label of HP:0000551 (Abnormality of color vision) ; abnormality of the eye Abnormality of color vision OFFICIAL Vision des couleurs anormale HP:0000572 en fr IAO:0000115 definition of HP:0000572 (Visual loss) ; abnormality of the eye Loss of visual acuity (implying that vision was better at a certain timepoint in life). Otherwise the term reduced visual acuity should be used (or a subclass of that) OFFICIAL "Perte d'acuité visuelle (impliquant que la vision était meilleure à un certain moment de la vie). Dans le cas contraire, il convient d'utiliser le terme ""acuité visuelle réduite"" (ou une sous-classe de ce terme)." HP:0000587 en fr rdfs:label label of HP:0000587 (Abnormality of the optic nerve) ; abnormality of the eye Abnormality of the optic nerve OFFICIAL Anomalie du nerf optique HP:0000588 en fr rdfs:label label of HP:0000588 (Optic nerve coloboma) ; abnormality of the eye Optic nerve coloboma OFFICIAL Colobome du nerf optique HP:0000618 en fr IAO:0000115 definition of HP:0000618 (Blindness) ; abnormality of the eye Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degress in radius around central fixation NOT_TRANSLATED Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degress in radius around central fixation +HP:0000657 en fr IAO:0000115 definition of HP:0000657 (Oculomotor apraxia) ; abnormality of the nervous system ; abnormality of the eye Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex NOT_TRANSLATED Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex HP:0000668 en fr IAO:0000115 definition of HP:0000668 (Hypodontia) ; abnormality of head or neck A developmental anomaly characterized by a reduced number of teeth, whereby up to 6 teeth are missing NOT_TRANSLATED A developmental anomaly characterized by a reduced number of teeth, whereby up to 6 teeth are missing HP:0000674 en fr IAO:0000115 definition of HP:0000674 (Anodontia) ; abnormality of head or neck The congenital absence of all teeth NOT_TRANSLATED The congenital absence of all teeth HP:0000677 en fr IAO:0000115 definition of HP:0000677 (Oligodontia) ; abnormality of head or neck A developmental anomaly characterized by a reduced number of teeth, whereby more than 6 teeth are missing NOT_TRANSLATED A developmental anomaly characterized by a reduced number of teeth, whereby more than 6 teeth are missing HP:0000678 en fr IAO:0000115 definition of HP:0000678 (Dental crowding) ; abnormality of head or neck Overlapping teeth within an alveolar ridge NOT_TRANSLATED Overlapping teeth within an alveolar ridge HP:0000679 en fr IAO:0000115 definition of HP:0000679 (Taurodontia) ; abnormality of head or neck Increased volume of dental pulp of permanent molar NOT_TRANSLATED Increased volume of dental pulp of permanent molar HP:0000682 en fr rdfs:label label of HP:0000682 (Abnormality of dental enamel) ; abnormality of head or neck ; abnormality of the skeletal system ; abnormality of connective tissue Abnormality of dental enamel OFFICIAL Anomalie de l'émail dentaire +HP:0000683 en fr IAO:0000115 definition of HP:0000683 (Grayish enamel) ; abnormality of head or neck ; abnormality of the skeletal system ; abnormality of connective tissue A grey discoloration of the dental enamel NOT_TRANSLATED A grey discoloration of the dental enamel HP:0000692 en fr rdfs:label label of HP:0000692 (Misalignment of teeth) ; abnormality of head or neck Misalignment of teeth OFFICIAL Mauvais alignement des dents HP:0000694 en fr IAO:0000115 definition of HP:0000694 (Shell teeth) ; abnormality of head or neck ; abnormality of the skeletal system ; abnormality of connective tissue A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin NOT_TRANSLATED A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin HP:0000694 en fr rdfs:label label of HP:0000694 (Shell teeth) ; abnormality of head or neck ; abnormality of the skeletal system ; abnormality of connective tissue Shell teeth OFFICIAL Dent en coquille @@ -222,6 +226,7 @@ HP:0001845 en fr IAO:0000115 definition of HP:0001845 (Overlapping toe) ; abnor HP:0001868 en fr IAO:0000115 definition of HP:0001868 (Autoamputation of foot) ; abnormality of limbs Spontaneous detachment of a foot from the body NOT_TRANSLATED Spontaneous detachment of a foot from the body HP:0001872 en fr rdfs:label label of HP:0001872 (Abnormal thrombocyte morphology) ; abnormality of blood and blood-forming tissues Abnormal thrombocyte morphology OFFICIAL Morphologie thrombocytaire anormale HP:0001879 en fr IAO:0000115 definition of HP:0001879 (Abnormal eosinophil morphology) ; abnormality of the immune system ; abnormality of blood and blood-forming tissues An eosinophil abnormality NOT_TRANSLATED An eosinophil abnormality +HP:0001900 en fr rdfs:label label of HP:0001900 (Increased hemoglobin) ; abnormality of blood and blood-forming tissues Increased hemoglobin OFFICIAL Hémoglobine augmentée HP:0001917 en fr IAO:0000115 definition of HP:0001917 (Renal amyloidosis) ; abnormality of metabolism/homeostasis ; abnormality of the genitourinary system A form of amyloidosis that affects the kidney NOT_TRANSLATED A form of amyloidosis that affects the kidney HP:0001942 en fr IAO:0000115 definition of HP:0001942 (Metabolic acidosis) ; abnormality of metabolism/homeostasis Acid accumulation or depletion of base in the body due to buildup of metabolic acids NOT_TRANSLATED Acid accumulation or depletion of base in the body due to buildup of metabolic acids HP:0001945 en fr IAO:0000115 definition of HP:0001945 (Fever) ; abnormality of metabolism/homeostasis Elevated body temperature due to failed thermoregulation NOT_TRANSLATED Elevated body temperature due to failed thermoregulation @@ -295,6 +300,7 @@ HP:0002427 en fr rdfs:label label of HP:0002427 (Motor aphasia) ; abnormality o HP:0002435 en fr IAO:0000115 definition of HP:0002435 (Meningocele) ; abnormality of the nervous system Protrusion of the meninges through a defect of the vertebral column NOT_TRANSLATED Protrusion of the meninges through a defect of the vertebral column HP:0002454 en fr IAO:0000115 definition of HP:0002454 (Eye of the tiger anomaly of globus pallidus) ; abnormality of the nervous system The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity if the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance NOT_TRANSLATED The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity if the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance HP:0002461 en fr rdfs:label label of HP:0002461 (Dense calcifications in the cerebellar dentate nucleus) ; abnormality of the nervous system ; abnormality of the skeletal system Dense calcifications in the cerebellar dentate nucleus OFFICIAL Calcifications denses au niveau des noyaux dentelés du cervelet +HP:0002476 en fr IAO:0000115 definition of HP:0002476 (Primitive reflex) ; abnormality of the nervous system The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant NOT_TRANSLATED The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant HP:0002487 en fr rdfs:label label of HP:0002487 (Hyperkinesis) ; abnormality of the nervous system Hyperkinesis OFFICIAL Hyperkinesie HP:0002492 en fr rdfs:label label of HP:0002492 (Abnormality of the corticospinal tract) ; abnormality of the nervous system Abnormality of the corticospinal tract OFFICIAL Anomalie du tractus cortico-spinal HP:0002493 en fr IAO:0000115 definition of HP:0002493 (Upper motor neuron dysfunction) ; abnormality of the nervous system A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements.nDysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs NOT_TRANSLATED A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements.nDysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs @@ -327,6 +333,7 @@ HP:0002695 en fr rdfs:label label of HP:0002695 (Symmetrical, oval parietal bone HP:0002699 en fr rdfs:label label of HP:0002699 (Abnormality of the foramen magnum) ; abnormality of head or neck ; abnormality of the skeletal system Abnormality of the foramen magnum OFFICIAL Anomalie du foramen magnum HP:0002733 en fr IAO:0000115 definition of HP:0002733 (Abnormality of the lymph nodes) ; abnormality of the immune system A lymph node abnormality NOT_TRANSLATED A lymph node abnormality HP:0002733 en fr rdfs:label label of HP:0002733 (Abnormality of the lymph nodes) ; abnormality of the immune system Abnormality of the lymph nodes OFFICIAL Anomalie des ganglions lymphatiques +HP:0002744 en fr rdfs:label label of HP:0002744 (Bilateral cleft lip and palate) ; abnormality of head or neck Bilateral cleft lip and palate OFFICIAL Fente labiale/palatine bilatérale HP:0002748 en fr IAO:0000115 definition of HP:0002748 (Rickets) ; abnormality of the skeletal system A condition that causes soft, weak bones. It is often attributed to a lack of vitamin D, which helps bones absorb important nutrients NOT_TRANSLATED A condition that causes soft, weak bones. It is often attributed to a lack of vitamin D, which helps bones absorb important nutrients HP:0002756 en fr IAO:0000115 definition of HP:0002756 (Pathologic fracture) ; abnormality of the skeletal system A pathologic fracture occurs when a bone breaks in an area that is weakened secondary to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone NOT_TRANSLATED A pathologic fracture occurs when a bone breaks in an area that is weakened secondary to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone HP:0002761 en fr IAO:0000115 definition of HP:0002761 (Generalized joint laxity) ; abnormality of the skeletal system Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body NOT_TRANSLATED Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body @@ -386,6 +393,7 @@ HP:0003185 en fr rdfs:label label of HP:0003185 (Short sacroiliac notch) ; abno HP:0003212 en fr IAO:0000115 definition of HP:0003212 (Increased IgE level) ; abnormality of metabolism/homeostasis ; abnormal cellular phenotype ; abnormality of the immune system An abnormally increased level of immunoglobulin E in blood NOT_TRANSLATED An abnormally increased level of immunoglobulin E in blood HP:0003212 en fr rdfs:label label of HP:0003212 (Increased IgE level) ; abnormality of metabolism/homeostasis ; abnormal cellular phenotype ; abnormality of the immune system Increased IgE level OFFICIAL Taux d'IgE augmenté HP:0003219 en fr IAO:0000115 definition of HP:0003219 (Ethylmalonic aciduria) ; abnormality of metabolism/homeostasis ; abnormality of the genitourinary system An increased concentration of ethylmalonic acid in the urine NOT_TRANSLATED An increased concentration of ethylmalonic acid in the urine +HP:0003220 en fr IAO:0000115 definition of HP:0003220 (Abnormality of chromosome stability) ; abnormality of metabolism/homeostasis ; abnormal cellular phenotype A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration NOT_TRANSLATED A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration HP:0003223 en fr IAO:0000115 definition of HP:0003223 (Decreased methylcobalamin) ; abnormality of metabolism/homeostasis Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12 NOT_TRANSLATED Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12 HP:0003223 en fr rdfs:label label of HP:0003223 (Decreased methylcobalamin) ; abnormality of metabolism/homeostasis Decreased methylcobalamin OFFICIAL Déficit en méthyl-cobalamine HP:0003234 en fr IAO:0000115 definition of HP:0003234 (Decreased plasma carnitine) ; abnormality of metabolism/homeostasis ; abnormal cellular phenotype A decreased concentration of carnitine in the blood NOT_TRANSLATED A decreased concentration of carnitine in the blood @@ -421,6 +429,7 @@ HP:0003366 en fr rdfs:label label of HP:0003366 (Abnormality of the femoral neck HP:0003367 en fr rdfs:label label of HP:0003367 (Abnormality of the femoral neck) ; abnormality of limbs ; abnormality of the skeletal system Abnormality of the femoral neck OFFICIAL Anomalie du col fémoral HP:0003368 en fr rdfs:label label of HP:0003368 (Abnormality of the femoral head) ; abnormality of limbs ; abnormality of the skeletal system Abnormality of the femoral head OFFICIAL Anomalie de la tête fémorale HP:0003375 en fr rdfs:label label of HP:0003375 (Narrow greater sacrosciatic notches) ; abnormality of the skeletal system Narrow greater sacrosciatic notches OFFICIAL Grandes encoches sacro-sciatiques étroites +HP:0003452 en fr rdfs:label label of HP:0003452 (Increased serum iron) ; abnormality of metabolism/homeostasis Increased serum iron OFFICIAL Augmentation du fer serique HP:0003455 en fr IAO:0000115 definition of HP:0003455 (Elevated long chain fatty acids) ; abnormality of metabolism/homeostasis Increased concentration of long-chain fatty acid NOT_TRANSLATED Increased concentration of long-chain fatty acid HP:0003455 en fr rdfs:label label of HP:0003455 (Elevated long chain fatty acids) ; abnormality of metabolism/homeostasis Elevated long chain fatty acids OFFICIAL Acides gras à longue chaîne élevés HP:0003459 en fr IAO:0000115 definition of HP:0003459 (Polyclonal elevation of IgM) ; abnormality of metabolism/homeostasis ; abnormal cellular phenotype ; abnormality of the immune system A gammopathy in which there is a heterogeneous increase in IgM immunoglobulins NOT_TRANSLATED A gammopathy in which there is a heterogeneous increase in IgM immunoglobulins @@ -488,6 +497,7 @@ HP:0004303 en fr rdfs:label label of HP:0004303 (Abnormality of muscle fibers) HP:0004307 en fr IAO:0000115 definition of HP:0004307 (Abnormal anatomic location of the heart) ; abnormality of the cardiovascular system Thickening of the left ventricle wall with congenital onset NOT_TRANSLATED Thickening of the left ventricle wall with congenital onset HP:0004312 en fr rdfs:label label of HP:0004312 (Abnormality of reticulocytes) ; abnormality of blood and blood-forming tissues Abnormality of reticulocytes OFFICIAL Anomalie des réticulocytes HP:0004313 en fr rdfs:label label of HP:0004313 (Decreased antibody level in blood) ; abnormality of metabolism/homeostasis ; abnormal cellular phenotype ; abnormality of the immune system Decreased antibody level in blood OFFICIAL Hypogammaglobulinémie +HP:0004328 en fr IAO:0000115 definition of HP:0004328 (Abnormal anterior eye segment morphology) ; abnormality of the eye An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens) NOT_TRANSLATED An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens) HP:0004342 en fr IAO:0000115 definition of HP:0004342 (Abnormality of galactoside metabolism) ; abnormality of metabolism/homeostasis Abnormality of galactoside metabolism. A galactoside is a glycoside (a suger moiety bound to some other moiety) containing galactose NOT_TRANSLATED Abnormality of galactoside metabolism. A galactoside is a glycoside (a suger moiety bound to some other moiety) containing galactose HP:0004343 en fr rdfs:label label of HP:0004343 (Abnormality of glycosphingolipid metabolism) ; abnormality of metabolism/homeostasis Abnormality of glycosphingolipid metabolism OFFICIAL Anomalie du métabolisme des glycosphingolipides HP:0004361 en fr rdfs:label label of HP:0004361 (Abnormality of circulating leptin level) ; abnormality of the endocrine system Abnormality of circulating leptin level OFFICIAL Anomalie de la concentration circulante de leptine @@ -501,6 +511,7 @@ HP:0004379 en fr rdfs:label label of HP:0004379 (Abnormality of alkaline phospha HP:0004398 en fr IAO:0000115 definition of HP:0004398 (Peptic ulcer) ; abnormality of the digestive system An ulcer of the gastrointestinal tract NOT_TRANSLATED An ulcer of the gastrointestinal tract HP:0004426 en fr rdfs:label label of HP:0004426 (Abnormality of the cheek) ; abnormality of head or neck Abnormality of the cheek OFFICIAL Anomalie des joues HP:0004430 en fr IAO:0000115 definition of HP:0004430 (Severe combined immunodeficiency) ; abnormality of the immune system A combined immunodeficiency primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems NOT_TRANSLATED A combined immunodeficiency primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems +HP:0004431 en fr rdfs:label label of HP:0004431 (Complement deficiency) ; abnormality of the immune system Complement deficiency OFFICIAL Déficit en complément HP:0004432 en fr IAO:0000115 definition of HP:0004432 (Agammaglobulinemia) ; abnormality of metabolism/homeostasis ; abnormal cellular phenotype ; abnormality of the immune system Absence or extremely low level of IgA, IgM, and IgM in the circulation NOT_TRANSLATED Absence or extremely low level of IgA, IgM, and IgM in the circulation HP:0004434 en fr IAO:0000115 definition of HP:0004434 (C8 deficiency) ; abnormality of the immune system A reduced level of the complement component C8 in circulation NOT_TRANSLATED A reduced level of the complement component C8 in circulation HP:0004434 en fr rdfs:label label of HP:0004434 (C8 deficiency) ; abnormality of the immune system C8 deficiency OFFICIAL Déficit en C8 @@ -522,6 +533,7 @@ HP:0005019 en fr rdfs:label label of HP:0005019 (Diaphyseal thickening) ; abnor HP:0005072 en fr rdfs:label label of HP:0005072 (Hyperextensibility at wrists) ; abnormality of the skeletal system Hyperextensibility at wrists OFFICIAL Hyperlaxité des poignets HP:0005085 en fr IAO:0000115 definition of HP:0005085 (Limited knee flexion/extension) ; abnormality of limbs ; abnormality of the skeletal system A limited ability of the knee joint extension and flexion NOT_TRANSLATED A limited ability of the knee joint extension and flexion HP:0005099 en fr rdfs:label label of HP:0005099 (Severe hydrops fetalis) ; abnormality of metabolism/homeostasis ; abnormality of prenatal development or birth Severe hydrops fetalis OFFICIAL Hydrops fetalis sévère +HP:0005106 en fr IAO:0000115 definition of HP:0005106 (Abnormality of the vertebral endplates) ; abnormality of the skeletal system Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs NOT_TRANSLATED Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs HP:0005108 en fr IAO:0000115 definition of HP:0005108 (Abnormality of the intervertebral disk) ; abnormality of the skeletal system An abnormality of the intervertebral disk NOT_TRANSLATED An abnormality of the intervertebral disk HP:0005108 en fr rdfs:label label of HP:0005108 (Abnormality of the intervertebral disk) ; abnormality of the skeletal system Abnormality of the intervertebral disk OFFICIAL Anomalie du disque intervertébral HP:0005155 en fr IAO:0000115 definition of HP:0005155 (Ventricular escape rhythm) ; abnormality of the cardiovascular system A ventircular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes are broad (at least 120 ms) NOT_TRANSLATED A ventircular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes are broad (at least 120 ms) @@ -532,6 +544,7 @@ HP:0005265 en fr rdfs:label label of HP:0005265 (Abnormality of the jejunum) ; HP:0005268 en fr IAO:0000115 definition of HP:0005268 (Spontaneous abortion) ; abnormality of prenatal development or birth A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 20th week of pregnancy NOT_TRANSLATED A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 20th week of pregnancy HP:0005268 en fr rdfs:label label of HP:0005268 (Spontaneous abortion) ; abnormality of prenatal development or birth Spontaneous abortion OFFICIAL Risque accru d'avortement spontané HP:0005288 en fr rdfs:label label of HP:0005288 (Abnormality of the nares) ; abnormality of head or neck Abnormality of the nares OFFICIAL Anomalie des narines +HP:0005289 en fr rdfs:label label of HP:0005289 (Abnormality of the nasolabial region) ; abnormality of head or neck Abnormality of the nasolabial region OFFICIAL Anomalie de la région nasolabiale HP:0005306 en fr IAO:0000115 definition of HP:0005306 (Capillary hemangioma) ; neoplasm ; abnormality of the cardiovascular system The presence of a capillary hemangiomas, which are hemangiomas with small endothelial spaces NOT_TRANSLATED The presence of a capillary hemangiomas, which are hemangiomas with small endothelial spaces HP:0005325 en fr IAO:0000115 definition of HP:0005325 (Extension of hair growth on temples to lateral eyebrow) ; abnormality of the integument ; abnormality of head or neck A pattern of hair growth in which there is hair exnteding from the temples to the lateral eyebrows NOT_TRANSLATED A pattern of hair growth in which there is hair exnteding from the temples to the lateral eyebrows HP:0005347 en fr rdfs:label label of HP:0005347 (Cartilaginous trachea) ; abnormality of the respiratory system Cartilaginous trachea OFFICIAL Trachée cartilagineuse @@ -606,6 +619,8 @@ HP:0006350 en fr rdfs:label label of HP:0006350 (Obliteration of the pulp chambe HP:0006358 en fr IAO:0000115 definition of HP:0006358 (Shovel-shaped maxillary central incisors) ; abnormality of head or neck Incisors with a thick marginal ridge surrounding a deep lingual fossa are termed shovel-shaped incisors NOT_TRANSLATED Incisors with a thick marginal ridge surrounding a deep lingual fossa are termed shovel-shaped incisors HP:0006367 en fr IAO:0000115 definition of HP:0006367 (Crumpled long bones) ; abnormality of the skeletal system An crumpled radiographic appearance of the long bones, as is the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta NOT_TRANSLATED An crumpled radiographic appearance of the long bones, as is the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta HP:0006380 en fr IAO:0000115 definition of HP:0006380 (Knee flexion contracture) ; abnormality of limbs ; abnormality of the musculature ; abnormality of the skeletal system ; abnormality of connective tissue A bent (flexed) knee joint that cannot be straightened actively or passively NOT_TRANSLATED A bent (flexed) knee joint that cannot be straightened actively or passively +HP:0006417 en fr rdfs:label label of HP:0006417 (Broad femoral metaphyses) ; abnormality of limbs ; abnormality of the skeletal system Broad femoral metaphyses OFFICIAL Larges métaphyses fémorales +HP:0006431 en fr rdfs:label label of HP:0006431 (Proximal femoral metaphyseal abnormality) ; abnormality of limbs ; abnormality of the skeletal system Proximal femoral metaphyseal abnormality OFFICIAL Anomalies métaphysaires des fémurs proximaux HP:0006433 en fr rdfs:label label of HP:0006433 (Dysplastic radii) ; abnormality of limbs ; abnormality of the skeletal system Dysplastic radii OFFICIAL Radius dysplasiques HP:0006436 en fr rdfs:label label of HP:0006436 (Shortening of the tibia) ; abnormality of limbs ; abnormality of the skeletal system Shortening of the tibia OFFICIAL Raccourcissement du tibia HP:0006466 en fr rdfs:label label of HP:0006466 (Ankle contracture) ; abnormality of limbs ; abnormality of the musculature ; abnormality of the skeletal system ; abnormality of connective tissue Ankle contracture OFFICIAL Contractures des chevilles @@ -679,6 +694,7 @@ HP:0007361 en fr rdfs:label label of HP:0007361 (Abnormality of the pons) ; abn HP:0007375 en fr rdfs:label label of HP:0007375 (Abnormality of the septum pellucidum) ; abnormality of the nervous system Abnormality of the septum pellucidum OFFICIAL Anomalie du septum pellucidum HP:0007376 en fr rdfs:label label of HP:0007376 (Abnormality of the choroid plexus) ; abnormality of the nervous system Abnormality of the choroid plexus OFFICIAL Malformation des plexus choroïdes HP:0007404 en fr rdfs:label label of HP:0007404 (Nonepidermolytic palmoplantar keratoderma) ; abnormality of the integument Nonepidermolytic palmoplantar keratoderma OFFICIAL Kératoderme palmoplantaire non épidermolytique +HP:0007413 en fr IAO:0000115 definition of HP:0007413 (Nevus flammeus of the forehead) ; abnormality of the integument Naevus flammeus localised in the skin of the forehead NOT_TRANSLATED Naevus flammeus localised in the skin of the forehead HP:0007435 en fr rdfs:label label of HP:0007435 (Diffuse palmoplantar keratoderma) ; abnormality of the integument Diffuse palmoplantar keratoderma OFFICIAL Kératodermie palmo-plantaire diffuse HP:0007465 en fr rdfs:label label of HP:0007465 (Honeycomb palmoplantar keratoderma) ; abnormality of the integument Honeycomb palmoplantar keratoderma OFFICIAL Kératose palmoplantaire en rayon de miel HP:0007519 en fr rdfs:label label of HP:0007519 (Lack of subcutaneous fatty tissue) ; abnormality of connective tissue Lack of subcutaneous fatty tissue OFFICIAL perte du tissu graisseux souscutané @@ -689,9 +705,14 @@ HP:0007548 en fr rdfs:label label of HP:0007548 (Palmoplantar keratosis with ery HP:0007561 en fr rdfs:label label of HP:0007561 (Telangiectases in sun-exposed and nonexposed skin) ; abnormality of the integument ; abnormality of the cardiovascular system Telangiectases in sun-exposed and nonexposed skin OFFICIAL Télangiectaises sur la peau exposée et non exposée au soleil HP:0007576 en fr rdfs:label label of HP:0007576 (Palmar neurofibromas) ; abnormality of limbs ; abnormality of the nervous system ; abnormality of the integument ; neoplasm Palmar neurofibromas OFFICIAL neurofibromes palmaires HP:0007597 en fr rdfs:label label of HP:0007597 (Congenital palmoplantar keratodermia) ; abnormality of the integument Congenital palmoplantar keratodermia OFFICIAL Kératodermie palmoplantaire congénitale +HP:0007616 en fr IAO:0000115 definition of HP:0007616 (Nevus flammeus nuchae) ; abnormality of the integument Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns NOT_TRANSLATED Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns +HP:0007634 en fr IAO:0000115 definition of HP:0007634 (Nonarteritic anterior ischemic optic neuropathy) ; abnormality of the eye An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates NOT_TRANSLATED An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates HP:0007649 en fr IAO:0000115 definition of HP:0007649 (Congenital hypertrophy of retinal pigment epithelium) ; abnormality of the eye Sharply demarcated, congenital hyperpigmentation of thr retinal pigment epithelium NOT_TRANSLATED Sharply demarcated, congenital hyperpigmentation of thr retinal pigment epithelium HP:0007688 en fr IAO:0000115 definition of HP:0007688 (Undetectable light- and dark-adapted electroretinogram) ; abnormality of the eye Absence of the combined rod-and-code response on electroretinogram NOT_TRANSLATED Absence of the combined rod-and-code response on electroretinogram HP:0007700 en fr rdfs:label label of HP:0007700 (Anterior segment developmental abnormality) ; abnormality of the eye Anterior segment developmental abnormality OFFICIAL Anomalies mésodermiques de la chambre antérieure +HP:0007773 en fr IAO:0000115 definition of HP:0007773 (Vitreoretinopathy) ; abnormality of the eye Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment NOT_TRANSLATED Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment +HP:0007894 en fr IAO:0000115 definition of HP:0007894 (Hypopigmentation of the fundus) ; abnormality of the eye Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid) NOT_TRANSLATED Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid) +HP:0007968 en fr IAO:0000115 definition of HP:0007968 (Remnants of the hyaloid vascular system) ; abnormality of the eye Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract NOT_TRANSLATED Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract HP:0008005 en fr rdfs:label label of HP:0008005 (Congenital corneal dystrophy) ; abnormality of the eye Congenital corneal dystrophy OFFICIAL Dystrophie cornéenne congénitale HP:0008046 en fr IAO:0000115 definition of HP:0008046 (Abnormality of the retinal vasculature) ; abnormality of the cardiovascular system ; abnormality of the eye An arterial or venous retinal vascular anomaly NOT_TRANSLATED An arterial or venous retinal vascular anomaly HP:0008046 en fr rdfs:label label of HP:0008046 (Abnormality of the retinal vasculature) ; abnormality of the cardiovascular system ; abnormality of the eye Abnormality of the retinal vasculature OFFICIAL Anomalie de la vascularisation rétinienne @@ -721,13 +742,18 @@ HP:0008366 en fr rdfs:label label of HP:0008366 (Contractures involving the join HP:0008372 en fr rdfs:label label of HP:0008372 (Abnormality of vitamin A metabolism) ; abnormality of metabolism/homeostasis Abnormality of vitamin A metabolism OFFICIAL Anomalie du métabolisme de la vitamine A HP:0008376 en fr rdfs:label label of HP:0008376 (Nasal, dysarthic speech) ; abnormality of the nervous system Nasal, dysarthic speech OFFICIAL Langage dysarthrique et nasal HP:0008390 en fr IAO:0000115 definition of HP:0008390 (Recurrent loss of toenails and fingernails) ; abnormality of the integument Recurrent loss, or shedding, of the nails of the fingers and toes NOT_TRANSLATED Recurrent loss, or shedding, of the nails of the fingers and toes +HP:0008419 en fr rdfs:label label of HP:0008419 (Intervertebral disc degeneration) ; abnormality of the skeletal system Intervertebral disc degeneration OFFICIAL Dégénérescence des disques intervertébraux HP:0008443 en fr rdfs:label label of HP:0008443 (Spinal deformities) ; abnormality of the skeletal system Spinal deformities OFFICIAL Déformation rachidienne HP:0008480 en fr IAO:0000115 definition of HP:0008480 (Cervical spondylosis) ; abnormality of the skeletal system The presence of arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column NOT_TRANSLATED The presence of arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column +HP:0008498 en fr rdfs:label label of HP:0008498 (No permanent dentition) ; abnormality of head or neck No permanent dentition OFFICIAL Absence de dentition permanente +HP:0008501 en fr rdfs:label label of HP:0008501 (Median cleft lip and palate) ; abnormality of head or neck Median cleft lip and palate OFFICIAL Fente labiale/palatine médiane HP:0008519 en fr IAO:0000115 definition of HP:0008519 (Abnormality of the coccyx) ; abnormality of the skeletal system An abnormality of the coccyx NOT_TRANSLATED An abnormality of the coccyx HP:0008519 en fr rdfs:label label of HP:0008519 (Abnormality of the coccyx) ; abnormality of the skeletal system Abnormality of the coccyx OFFICIAL Anomalie du coccyx HP:0008572 en fr rdfs:label label of HP:0008572 (External ear malformation) ; abnormality of the ear External ear malformation OFFICIAL Malformation variable de l'oreille externe HP:0008609 en fr rdfs:label label of HP:0008609 (Morphological abnormality of the middle ear) ; abnormality of the ear Morphological abnormality of the middle ear OFFICIAL Malformations de l'oreille moyenne HP:0008629 en fr IAO:0000115 definition of HP:0008629 (Pulsatile tinnitus) ; abnormality of the ear Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation. Pulsatile tinnitus may be associated with vascular abnormalities such as arterioevenous shunts or glomus tumors or the jugular vein, arterial bruits related to a high-riding carotid artery (close to the auditory areas) or carotid stenosis, or venous abnormalities such as a dehiscent jugular bulb or to hypertension. Finally, in some patients, mechanical abnormalities such a spatulous eustachian tubes, palatomyoclonus (small spasms of muscles in the soft palate area), or idiopathic stapedial muscle spasm may represent the underlying cause of pulsatile tinnitus NOT_TRANSLATED Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation. Pulsatile tinnitus may be associated with vascular abnormalities such as arterioevenous shunts or glomus tumors or the jugular vein, arterial bruits related to a high-riding carotid artery (close to the auditory areas) or carotid stenosis, or venous abnormalities such as a dehiscent jugular bulb or to hypertension. Finally, in some patients, mechanical abnormalities such a spatulous eustachian tubes, palatomyoclonus (small spasms of muscles in the soft palate area), or idiopathic stapedial muscle spasm may represent the underlying cause of pulsatile tinnitus +HP:0008635 en fr IAO:0000115 definition of HP:0008635 (Hypertrophy of the urinary bladder) ; abnormality of the genitourinary system Abnormal enlargement of the urinary bladder NOT_TRANSLATED Abnormal enlargement of the urinary bladder +HP:0008635 en fr rdfs:label label of HP:0008635 (Hypertrophy of the urinary bladder) ; abnormality of the genitourinary system Hypertrophy of the urinary bladder OFFICIAL Hypertrophie de la vessie urinaire HP:0008636 en fr rdfs:label label of HP:0008636 (Lobular glomerulopathy) ; abnormality of the genitourinary system Lobular glomerulopathy OFFICIAL Glomérulopathie lobulaire HP:0008682 en fr IAO:0000115 definition of HP:0008682 (Acute tubular necrosis) ; abnormality of the genitourinary system Acute death of renal tubular cells that usually results from prolonged renal ischemia, nephrotoxins, or sepsis. The clinical course of acute tubular necrosis may be divided into initiation, maintenance, and recovery phases NOT_TRANSLATED Acute death of renal tubular cells that usually results from prolonged renal ischemia, nephrotoxins, or sepsis. The clinical course of acute tubular necrosis may be divided into initiation, maintenance, and recovery phases HP:0008682 en fr rdfs:label label of HP:0008682 (Acute tubular necrosis) ; abnormality of the genitourinary system Acute tubular necrosis OFFICIAL Nécrose tubulaire rénale @@ -761,6 +787,7 @@ HP:0009495 en fr rdfs:label label of HP:0009495 (Pseudoepiphyses of the 2nd fing HP:0009554 en fr IAO:0000115 definition of HP:0009554 (Projection of scalp hair onto lateral cheek) ; abnormality of the integument ; abnormality of head or neck An tongue-like extension of hair towards the cheeks NOT_TRANSLATED An tongue-like extension of hair towards the cheeks HP:0009554 en fr rdfs:label label of HP:0009554 (Projection of scalp hair onto lateral cheek) ; abnormality of the integument ; abnormality of head or neck Projection of scalp hair onto lateral cheek OFFICIAL projection du cuir chevelu vers la joue latérale HP:0009591 en fr IAO:0000115 definition of HP:0009591 (Abnormality of the vestibulocochlear nerve) ; abnormality of the nervous system Abnormality of the vestibulocochlear nerve, the eighth cranial nerve, which is involved in transmitting sound and equilibrium information from the inner ear to the brain NOT_TRANSLATED Abnormality of the vestibulocochlear nerve, the eighth cranial nerve, which is involved in transmitting sound and equilibrium information from the inner ear to the brain +HP:0009595 en fr rdfs:label label of HP:0009595 (Occasional neurofibromas) ; abnormality of the nervous system ; abnormality of the integument ; neoplasm Occasional neurofibromas OFFICIAL neurofibromes occasionnels HP:0009600 en fr IAO:0000115 definition of HP:0009600 (Flexion contracture of thumb) ; abnormality of limbs ; abnormality of the musculature ; abnormality of the skeletal system ; abnormality of connective tissue Chronic loss of joint motion in the thumb due to structural changes in non-bony tissue. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected NOT_TRANSLATED Chronic loss of joint motion in the thumb due to structural changes in non-bony tissue. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected HP:0009600 en fr rdfs:label label of HP:0009600 (Flexion contracture of thumb) ; abnormality of limbs ; abnormality of the musculature ; abnormality of the skeletal system ; abnormality of connective tissue Flexion contracture of thumb OFFICIAL Contractures articulaires du pouce HP:0009618 en fr IAO:0000115 definition of HP:0009618 (Abnormality of the proximal phalanx of the thumb) ; abnormality of limbs ; abnormality of the skeletal system Any anomaly of the proximal phalanx of thumb NOT_TRANSLATED Any anomaly of the proximal phalanx of thumb @@ -770,6 +797,7 @@ HP:0009626 en fr rdfs:label label of HP:0009626 (Contractures of the interphalan HP:0009666 en fr IAO:0000115 definition of HP:0009666 (Cone-shaped epiphysis of the proximal phalanx of the thumb) ; abnormality of limbs ; abnormality of the skeletal system A cone-shaped appearance of the epiphysis of the middle phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits NOT_TRANSLATED A cone-shaped appearance of the epiphysis of the middle phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits HP:0009714 en fr rdfs:label label of HP:0009714 (Abnormality of the epididymis) ; abnormality of the genitourinary system Abnormality of the epididymis OFFICIAL Anomalie de l'épididyme HP:0009716 en fr IAO:0000115 definition of HP:0009716 (Subependymal nodules) ; abnormality of the nervous system ; neoplasm Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis or nodular heterotopia of grey matter NOT_TRANSLATED Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis or nodular heterotopia of grey matter +HP:0009727 en fr IAO:0000115 definition of HP:0009727 (Achromatic retinal patches) ; abnormality of the eye Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina NOT_TRANSLATED Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina HP:0009728 en fr IAO:0000115 definition of HP:0009728 (Neoplasm of striated muscle) ; abnormality of the musculature ; neoplasm A benign or malignant neoplasm (tumour) originating in striated muscle, either skeletal muscle or cardiac muscle NOT_TRANSLATED A benign or malignant neoplasm (tumour) originating in striated muscle, either skeletal muscle or cardiac muscle HP:0009735 en fr IAO:0000115 definition of HP:0009735 (Spinal neurofibromas) ; abnormality of the nervous system ; abnormality of the integument ; neoplasm Neurofibromas originating in the spine NOT_TRANSLATED Neurofibromas originating in the spine HP:0009735 en fr rdfs:label label of HP:0009735 (Spinal neurofibromas) ; abnormality of the nervous system ; abnormality of the integument ; neoplasm Spinal neurofibromas OFFICIAL neurofibromes spinaux @@ -783,6 +811,8 @@ HP:0009879 en fr IAO:0000115 definition of HP:0009879 (Cortical gyral simplifica HP:0009879 en fr rdfs:label label of HP:0009879 (Cortical gyral simplification) ; abnormality of the nervous system Cortical gyral simplification OFFICIAL Simplification de la gyration corticale HP:0009896 en fr rdfs:label label of HP:0009896 (Abnormality of the antitragus) ; abnormality of the ear Abnormality of the antitragus OFFICIAL Anomalie de l'antitragus HP:0009912 en fr rdfs:label label of HP:0009912 (Abnormality of the tragus) ; abnormality of the ear Abnormality of the tragus OFFICIAL Anomalie du tragus +HP:0009922 en fr IAO:0000115 definition of HP:0009922 (Vascular remnant arising from the disc) ; abnormality of the eye Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth NOT_TRANSLATED Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth +HP:0009922 en fr rdfs:label label of HP:0009922 (Vascular remnant arising from the disc) ; abnormality of the eye Vascular remnant arising from the disc OFFICIAL Persistance de l'artère hyaloïde HP:0009929 en fr IAO:0000115 definition of HP:0009929 (Abnormality of the columella) ; abnormality of head or neck An abnormality of the columella NOT_TRANSLATED An abnormality of the columella HP:0009929 en fr rdfs:label label of HP:0009929 (Abnormality of the columella) ; abnormality of head or neck Abnormality of the columella OFFICIAL Anomalie du bord inférieur de la cloison nasale HP:0009943 en fr IAO:0000115 definition of HP:0009943 (Complete duplication of thumb phalanx) ; abnormality of limbs ; abnormality of the skeletal system A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also refered to as Hyperphalangism NOT_TRANSLATED A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also refered to as Hyperphalangism @@ -809,6 +839,9 @@ HP:0010160 en fr rdfs:label label of HP:0010160 (Abnormality of the epiphyses of HP:0010161 en fr rdfs:label label of HP:0010161 (Abnormality of the phalanges of the toes) ; abnormality of limbs ; abnormality of the skeletal system Abnormality of the phalanges of the toes OFFICIAL Anomalie des phalanges des orteils HP:0010203 en fr IAO:0000115 definition of HP:0010203 (Aplasia/hypoplasia of proximal toe phalanx) ; abnormality of limbs ; abnormality of the skeletal system Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the toes NOT_TRANSLATED Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the toes HP:0010221 en fr rdfs:label label of HP:0010221 (Pseudoepiphysis of the 2nd metacarpal) ; abnormality of limbs ; abnormality of the skeletal system Pseudoepiphysis of the 2nd metacarpal OFFICIAL pseudo-épiphyse du 2nd métacarpien +HP:0010223 en fr IAO:0000115 definition of HP:0010223 (Pseudoepiphysis of the 3rd metacarpal) ; abnormality of limbs ; abnormality of the skeletal system The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present NOT_TRANSLATED The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present +HP:0010225 en fr IAO:0000115 definition of HP:0010225 (Pseudoepiphysis of the 4th metacarpal) ; abnormality of limbs ; abnormality of the skeletal system The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present NOT_TRANSLATED The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present +HP:0010227 en fr IAO:0000115 definition of HP:0010227 (Pseudoepiphysis of the 5th metacarpal) ; abnormality of limbs ; abnormality of the skeletal system The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present NOT_TRANSLATED The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present HP:0010228 en fr IAO:0000115 definition of HP:0010228 (Absent epiphyses of the phalanges of the hand) ; abnormality of limbs ; abnormality of the skeletal system Absence of one or more epiphyses of the phalanges fingers NOT_TRANSLATED Absence of one or more epiphyses of the phalanges fingers HP:0010289 en fr IAO:0000115 definition of HP:0010289 (Cleft of alveolar ridge of maxilla) ; abnormality of head or neck A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth NOT_TRANSLATED A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth HP:0010289 en fr rdfs:label label of HP:0010289 (Cleft of alveolar ridge of maxilla) ; abnormality of head or neck Cleft of alveolar ridge of maxilla OFFICIAL Fente de la crête alvéolaire de la mandibule @@ -844,12 +877,15 @@ HP:0010569 en fr IAO:0000115 definition of HP:0010569 (Elevated 7-dehydrocholest HP:0010569 en fr rdfs:label label of HP:0010569 (Elevated 7-dehydrocholesterol) ; abnormality of metabolism/homeostasis Elevated 7-dehydrocholesterol OFFICIAL Augmentation du 7-déhydrocholestérol HP:0010570 en fr rdfs:label label of HP:0010570 (Low maternal serum alpha-fetoprotein) ; abnormality of prenatal development or birth Low maternal serum alpha-fetoprotein OFFICIAL alphafoetoprotéine sérique maternelle bas HP:0010571 en fr rdfs:label label of HP:0010571 (Elevated levels of phytanic acid) ; abnormality of metabolism/homeostasis Elevated levels of phytanic acid OFFICIAL Dosage élevé d'acide phytanique +HP:0010587 en fr rdfs:label label of HP:0010587 (Triangular epiphyses) ; abnormality of the skeletal system Triangular epiphyses OFFICIAL Épiphyses triangulaires HP:0010593 en fr rdfs:label label of HP:0010593 (Abnormality of fibular epiphyses) ; abnormality of limbs ; abnormality of the skeletal system Abnormality of fibular epiphyses OFFICIAL anomalie des épiphyses fibulaires HP:0010600 en fr rdfs:label label of HP:0010600 (Abnormality of the distal ulnar epiphysis) ; abnormality of limbs ; abnormality of the skeletal system Abnormality of the distal ulnar epiphysis OFFICIAL anomalies des épiphyses ulnaires distales HP:0010601 en fr rdfs:label label of HP:0010601 (Abnormality of the proximal ulnar epiphysis) ; abnormality of limbs ; abnormality of the skeletal system Abnormality of the proximal ulnar epiphysis OFFICIAL Anomalie des épihyses proximales de l'ulna +HP:0010603 en fr IAO:0000115 definition of HP:0010603 (Odontogenic keratocysts of the jaw) ; abnormality of head or neck ; neoplasm A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour NOT_TRANSLATED A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour HP:0010609 en fr IAO:0000115 definition of HP:0010609 (Skin tags) ; abnormality of the integument Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumours that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region NOT_TRANSLATED Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumours that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region HP:0010626 en fr IAO:0000115 definition of HP:0010626 (Anterior pituitary agenesis) ; abnormality of the endocrine system ; abnormality of the nervous system Absence of the pituitary gland resulting from a developmental defect NOT_TRANSLATED Absence of the pituitary gland resulting from a developmental defect HP:0010630 en fr rdfs:label label of HP:0010630 (Abnormality of metatarsal epiphysis) ; abnormality of limbs ; abnormality of the skeletal system Abnormality of metatarsal epiphysis OFFICIAL Anomalie des épiphyses métatarsiennes +HP:0010640 en fr rdfs:label label of HP:0010640 (Abnormality of the nasal cavity) ; abnormality of head or neck Abnormality of the nasal cavity OFFICIAL Anomalie de la fosse nasale HP:0010663 en fr rdfs:label label of HP:0010663 (Abnormality of thalamus morphology) ; abnormality of the nervous system Abnormality of thalamus morphology OFFICIAL Anomalie morphologique du thalamus HP:0010665 en fr IAO:0000115 definition of HP:0010665 (Bilateral coxa valga) ; abnormality of limbs ; abnormality of the skeletal system The presence of bilateral coxa_valga NOT_TRANSLATED The presence of bilateral coxa_valga HP:0010668 en fr rdfs:label label of HP:0010668 (Abnormality of the zygomatic bone) ; abnormality of head or neck ; abnormality of the skeletal system Abnormality of the zygomatic bone OFFICIAL Anomalie de l'os zygomatique @@ -860,6 +896,7 @@ HP:0010685 en fr IAO:0000115 definition of HP:0010685 (Low alkaline phosphatase HP:0010686 en fr IAO:0000115 definition of HP:0010686 (Low alkaline phosphatase of hepatic origin) ; abnormality of metabolism/homeostasis An abnormally reduced level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood NOT_TRANSLATED An abnormally reduced level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood HP:0010689 en fr IAO:0000115 definition of HP:0010689 (Mirror image polydactyly) ; abnormality of limbs ; abnormality of the skeletal system A hand or foot with more than five digits that has a recognizable A/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand typically resemble fifth fingers/toes NOT_TRANSLATED A hand or foot with more than five digits that has a recognizable A/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand typically resemble fifth fingers/toes HP:0010702 en fr rdfs:label label of HP:0010702 (Increased antibody level in blood) ; abnormality of metabolism/homeostasis ; abnormal cellular phenotype ; abnormality of the immune system Increased antibody level in blood OFFICIAL Hypergammaglobulinémie +HP:0010733 en fr IAO:0000115 definition of HP:0010733 (Naevus flammeus of the eyelid) ; abnormality of the integument Naevus flammeus localised in the skin of the eyelid NOT_TRANSLATED Naevus flammeus localised in the skin of the eyelid HP:0010758 en fr IAO:0000115 definition of HP:0010758 (Abnormality of the premaxilla) ; abnormality of head or neck ; abnormality of the skeletal system An abnormality of the premaxilla [UBERON_0002244], the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate NOT_TRANSLATED An abnormality of the premaxilla [UBERON_0002244], the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate HP:0010762 en fr IAO:0000115 definition of HP:0010762 (Chordoma) ; neoplasm ; abnormality of the skeletal system A chordoma is a tumors that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis NOT_TRANSLATED A chordoma is a tumors that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis HP:0010765 en fr IAO:0000115 definition of HP:0010765 (Palmar hyperkeratosis) ; abnormality of limbs ; abnormality of the integument Hyperkeratosis affecting the palm of the hand NOT_TRANSLATED Hyperkeratosis affecting the palm of the hand @@ -930,6 +967,12 @@ HP:0011097 en fr rdfs:label label of HP:0011097 (Epileptic spasms) ; abnormalit HP:0011110 en fr IAO:0000115 definition of HP:0011110 (Tonsillitis) ; abnormality of the immune system An inflammation of the tonsils NOT_TRANSLATED An inflammation of the tonsils HP:0011110 en fr rdfs:label label of HP:0011110 (Tonsillitis) ; abnormality of the immune system Tonsillitis OFFICIAL Tonsillite HP:0011111 en fr rdfs:label label of HP:0011111 (Abnormality of immune serum protein physiology) ; abnormality of the immune system Abnormality of immune serum protein physiology OFFICIAL Anomalie de la physiologie des protéines sériques immunes +HP:0011112 en fr rdfs:label label of HP:0011112 (Abnormality of serum cytokine level) ; abnormality of the immune system Abnormality of serum cytokine level OFFICIAL Anomalie du taux de cytokines sériques +HP:0011115 en fr rdfs:label label of HP:0011115 (Abnormality of chemokine secretion) ; abnormality of the immune system Abnormality of chemokine secretion OFFICIAL Anomalie de sécrétion des chémokines +HP:0011116 en fr IAO:0000115 definition of HP:0011116 (Abnormality of interferon secretion) ; abnormality of the immune system An abnormality in the production or cellular release of interferons (a class of cytokines) NOT_TRANSLATED An abnormality in the production or cellular release of interferons (a class of cytokines) +HP:0011116 en fr rdfs:label label of HP:0011116 (Abnormality of interferon secretion) ; abnormality of the immune system Abnormality of interferon secretion OFFICIAL Anomalie de sécrétion des interférons +HP:0011117 en fr IAO:0000115 definition of HP:0011117 (Abnormality of interleukin secretion) ; abnormality of the immune system An abnormality in the production or cellular release of interleukins (a class of cytokines) NOT_TRANSLATED An abnormality in the production or cellular release of interleukins (a class of cytokines) +HP:0011117 en fr rdfs:label label of HP:0011117 (Abnormality of interleukin secretion) ; abnormality of the immune system Abnormality of interleukin secretion OFFICIAL Anomalie de sécrétion des interleukines HP:0011119 en fr rdfs:label label of HP:0011119 (Abnormality of the nasal dorsum) ; abnormality of head or neck Abnormality of the nasal dorsum OFFICIAL Anomalie du dos du nez HP:0011121 en fr rdfs:label label of HP:0011121 (Abnormality of skin morphology) ; abnormality of the integument Abnormality of skin morphology OFFICIAL Anomalie de la morphologie de la peau HP:0011124 en fr rdfs:label label of HP:0011124 (Abnormality of epidermal morphology) ; abnormality of the integument Abnormality of epidermal morphology OFFICIAL Anomalie de la morphologie de l'épiderme @@ -997,6 +1040,7 @@ HP:0011348 en fr IAO:0000115 definition of HP:0011348 (Abnormality of the sixth HP:0011348 en fr rdfs:label label of HP:0011348 (Abnormality of the sixth cranial nerve) ; abnormality of the nervous system Abnormality of the sixth cranial nerve OFFICIAL Anomalie du sixième nerf crânien HP:0011349 en fr rdfs:label label of HP:0011349 (Abducens palsy) ; abnormality of the nervous system Abducens palsy OFFICIAL Paralysie du nerf abducens HP:0011357 en fr rdfs:label label of HP:0011357 (Abnormality of hair density) ; abnormality of the integument Abnormality of hair density OFFICIAL Anomalie de la densité des cheveux +HP:0011359 en fr IAO:0000115 definition of HP:0011359 (Dry hair) ; abnormality of the integument Hair that lacks the lustre (shine or gleam) of normal hair NOT_TRANSLATED Hair that lacks the lustre (shine or gleam) of normal hair HP:0011376 en fr rdfs:label label of HP:0011376 (Morphological abnormality of the vestibule of the inner ear) ; abnormality of the ear Morphological abnormality of the vestibule of the inner ear OFFICIAL Anormalie morphologique du vestibule de l'oreille interne HP:0011380 en fr rdfs:label label of HP:0011380 (Morphological abnormality of the semicircular canal) ; abnormality of the ear Morphological abnormality of the semicircular canal OFFICIAL Anormalie morphologique du canal semicirculaire HP:0011390 en fr rdfs:label label of HP:0011390 (Morphological abnormality of the inner ear) ; abnormality of the ear Morphological abnormality of the inner ear OFFICIAL Anomalie morphologique de l'oreille interne @@ -1006,6 +1050,7 @@ HP:0011399 en fr IAO:0000115 definition of HP:0011399 (Tibialis atrophy) ; abno HP:0011399 en fr rdfs:label label of HP:0011399 (Tibialis atrophy) ; abnormality of the musculature Tibialis atrophy OFFICIAL Atrophie du tibia HP:0011403 en fr rdfs:label label of HP:0011403 (Abnormal umbilical cord blood vessels) ; abnormality of prenatal development or birth Abnormal umbilical cord blood vessels OFFICIAL Vaisseaux du cordon ombilical anormaux HP:0011409 en fr rdfs:label label of HP:0011409 (Abnormality of placental membranes) ; abnormality of prenatal development or birth Abnormality of placental membranes OFFICIAL Anomalie des membranes placentaires +HP:0011412 en fr IAO:0000115 definition of HP:0011412 (Ventouse delivery) ; abnormality of prenatal development or birth Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately NOT_TRANSLATED Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately HP:0011427 en fr IAO:0000115 definition of HP:0011427 (Enlarged fetal cisterna magna) ; abnormality of prenatal development or birth The cisterna magna is measured on a transaxial view of the fetal head angled 15 degrees caudal to the canthomeatal line. The anterior/posterior diameter is taken between the inferior/posterior surface of the vemis of the cerebellum to the inner surface of the cranium. An enlarged cisternal magna is defined by an anterior/posterior diameter of 10 mm or more (pmid:16100637) NOT_TRANSLATED The cisterna magna is measured on a transaxial view of the fetal head angled 15 degrees caudal to the canthomeatal line. The anterior/posterior diameter is taken between the inferior/posterior surface of the vemis of the cerebellum to the inner surface of the cranium. An enlarged cisternal magna is defined by an anterior/posterior diameter of 10 mm or more (pmid:16100637) HP:0011432 en fr IAO:0000115 definition of HP:0011432 (High maternal serum alpha-fetoprotein) ; abnormality of prenatal development or birth An abnormally high concentration of serum alpha-fetoprotein as compared to normal values for gestational-age NOT_TRANSLATED An abnormally high concentration of serum alpha-fetoprotein as compared to normal values for gestational-age HP:0011432 en fr rdfs:label label of HP:0011432 (High maternal serum alpha-fetoprotein) ; abnormality of prenatal development or birth High maternal serum alpha-fetoprotein OFFICIAL Alphafoetoprotéine sérique maternelle élevée @@ -1048,6 +1093,7 @@ HP:0011842 en fr rdfs:label label of HP:0011842 (Abnormality of skeletal morphol HP:0011843 en fr rdfs:label label of HP:0011843 (Abnormality of skeletal physiology) ; abnormality of the skeletal system Abnormality of skeletal physiology OFFICIAL Anomalie de la physiologie du squelette HP:0011861 en fr rdfs:label label of HP:0011861 (Bilateral trilobed lungs) ; abnormality of the respiratory system Bilateral trilobed lungs OFFICIAL Poumons trilobés bilatéraux HP:0011867 en fr rdfs:label label of HP:0011867 (Abnormality of the wing of the ilium) ; abnormality of the skeletal system Abnormality of the wing of the ilium OFFICIAL Anomalie de l'aile iliaque +HP:0011891 en fr IAO:0000115 definition of HP:0011891 (Post-partum hemorrhage) ; abnormality of blood and blood-forming tissues Significant maternal haemorrhage/blood loss following deilvery of a child NOT_TRANSLATED Significant maternal haemorrhage/blood loss following deilvery of a child HP:0011892 en fr rdfs:label label of HP:0011892 (Vitamin K deficiency) ; abnormality of metabolism/homeostasis Vitamin K deficiency OFFICIAL Carence en vitamine K HP:0011904 en fr IAO:0000115 definition of HP:0011904 (Persistence of hemoglobin F) ; abnormality of blood and blood-forming tissues Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobiin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent NOT_TRANSLATED Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobiin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent HP:0011911 en fr rdfs:label label of HP:0011911 (Abnormality of metacarpophalangeal joint) ; abnormality of limbs ; abnormality of the skeletal system Abnormality of metacarpophalangeal joint OFFICIAL Anomalie de l'articulation métacarpophalangienne @@ -1055,6 +1101,7 @@ HP:0011931 en fr rdfs:label label of HP:0011931 (Abnormality of the cerebellar p HP:0011932 en fr rdfs:label label of HP:0011932 (Abnormality of the superior cerebellar peduncle) ; abnormality of the nervous system Abnormality of the superior cerebellar peduncle OFFICIAL Anomalie du pédoncule cérébelleux supérieur HP:0011942 en fr IAO:0000115 definition of HP:0011942 (Increased urinary sulfite) ; abnormality of metabolism/homeostasis ; abnormality of the genitourinary system Increased concentration of SO3(2-), i.e., sulfite, in the urine NOT_TRANSLATED Increased concentration of SO3(2-), i.e., sulfite, in the urine HP:0011942 en fr rdfs:label label of HP:0011942 (Increased urinary sulfite) ; abnormality of metabolism/homeostasis ; abnormality of the genitourinary system Increased urinary sulfite OFFICIAL Sulfite urinaire augmenté +HP:0011956 en fr IAO:0000115 definition of HP:0011956 (Intestinal lymphoid nodular hyperplasia) ; abnormality of the digestive system A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine NOT_TRANSLATED A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine HP:0011957 en fr rdfs:label label of HP:0011957 (Abnormality of the pectoral muscle) ; abnormality of the musculature Abnormality of the pectoral muscle OFFICIAL Anomalie du muscle pectoral HP:0011961 en fr IAO:0000115 definition of HP:0011961 (Non-obstructive azoospermia) ; abnormality of the genitourinary system Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. Can be differentiated from obstructive azoospermia on the basis of testicular biopsy NOT_TRANSLATED Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. Can be differentiated from obstructive azoospermia on the basis of testicular biopsy HP:0011962 en fr IAO:0000115 definition of HP:0011962 (Obstructive azoospermia) ; abnormality of the genitourinary system Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. Can be differentiated from obstructive azoospermia on the basis of testicular biopsy NOT_TRANSLATED Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. Can be differentiated from obstructive azoospermia on the basis of testicular biopsy @@ -1077,6 +1124,7 @@ HP:0012008 en fr rdfs:label label of HP:0012008 (Illusory auras) ; abnormality HP:0012029 en fr rdfs:label label of HP:0012029 (Abnormality of urine hormone level) ; abnormality of the endocrine system Abnormality of urine hormone level OFFICIAL Anomalie d'un dosage hormonal urinaire HP:0012039 en fr IAO:0000115 definition of HP:0012039 (Descemet Membrane Folds) ; abnormality of the eye Presence of folds in the Descement membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descement membrane folds are generally a manifestation of inflammation or edema of the cornea NOT_TRANSLATED Presence of folds in the Descement membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descement membrane folds are generally a manifestation of inflammation or edema of the cornea HP:0012053 en fr rdfs:label label of HP:0012053 (Low serum calcifediol) ; abnormality of metabolism/homeostasis Low serum calcifediol OFFICIAL Calcifédiol (25-hydroxycholécalciférol) sérique bas +HP:0012060 en fr IAO:0000115 definition of HP:0012060 (Acral lentiginous melanoma) ; abnormality of the integument ; neoplasm A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed NOT_TRANSLATED A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed HP:0012071 en fr IAO:0000115 definition of HP:0012071 (Abnormal circulating acetylcarnitine concentration) ; abnormality of metabolism/homeostasis Any deviation from the normal concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine NOT_TRANSLATED Any deviation from the normal concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine HP:0012071 en fr rdfs:label label of HP:0012071 (Abnormal circulating acetylcarnitine concentration) ; abnormality of metabolism/homeostasis Abnormal circulating acetylcarnitine concentration OFFICIAL Anomalie du métabolisme de l'acétylcarnitine HP:0012072 en fr IAO:0000115 definition of HP:0012072 (Aciduria) ; abnormality of metabolism/homeostasis ; abnormality of the genitourinary system Excretion of urine with an acid pH NOT_TRANSLATED Excretion of urine with an acid pH @@ -1087,6 +1135,7 @@ HP:0012100 en fr rdfs:label label of HP:0012100 (Abnormal circulating creatinine HP:0012112 en fr rdfs:label label of HP:0012112 (Abnormality of circulating corticosterone level) ; abnormality of the endocrine system Abnormality of circulating corticosterone level OFFICIAL Anomalie du dosage de la corticostérone circulante HP:0012116 en fr rdfs:label label of HP:0012116 (Abnormal albumin level) ; abnormality of metabolism/homeostasis Abnormal albumin level OFFICIAL Albuminémie anormale HP:0012119 en fr IAO:0000115 definition of HP:0012119 (Methemoglobinemia) ; abnormality of blood and blood-forming tissues Abnormally increased levels of Methemoglobinemia in the blood. In this form of hemoglobin, there is an oxidized ferric iron (Fe +3) rather than the reduced ferrous form (Fe 2+) that is normally found in hemoglobin. Methemoglobin has a reduced affinity for oxygen, resulting in a reduced ability to release oxygen to tissues NOT_TRANSLATED Abnormally increased levels of Methemoglobinemia in the blood. In this form of hemoglobin, there is an oxidized ferric iron (Fe +3) rather than the reduced ferrous form (Fe 2+) that is normally found in hemoglobin. Methemoglobin has a reduced affinity for oxygen, resulting in a reduced ability to release oxygen to tissues +HP:0012128 en fr IAO:0000115 definition of HP:0012128 (Basal ganglia necrosis) ; abnormality of the nervous system Death of cells in the basal ganglia NOT_TRANSLATED Death of cells in the basal ganglia HP:0012144 en fr rdfs:label label of HP:0012144 (Abnormality monocyte morphology) ; abnormality of the immune system ; abnormality of blood and blood-forming tissues Abnormality monocyte morphology OFFICIAL Anomalie morphologique des monocytes/macrophages HP:0012154 en fr IAO:0000115 definition of HP:0012154 (Anhedonia) ; abnormality of the nervous system Inability to experience pleasure activities usually found enjoyable NOT_TRANSLATED Inability to experience pleasure activities usually found enjoyable HP:0012171 en fr IAO:0000115 definition of HP:0012171 (Stereotypical hand wringing) ; abnormality of the nervous system Habitual clasping and squeezing of the hands NOT_TRANSLATED Habitual clasping and squeezing of the hands @@ -1122,12 +1171,14 @@ HP:0012452 en fr IAO:0000115 definition of HP:0012452 (Restless legs) ; abnorma HP:0012476 en fr rdfs:label label of HP:0012476 (Specific pneumococcal antibody deficiency) ; abnormality of metabolism/homeostasis ; abnormal cellular phenotype ; abnormality of the immune system Specific pneumococcal antibody deficiency OFFICIAL Déficit en anticorps spécifiques anti-pneumococciques HP:0012478 en fr IAO:0000115 definition of HP:0012478 (Temporomandibular joint ankylosis) ; abnormality of head or neck ; abnormality of the skeletal system Fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening NOT_TRANSLATED Fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening HP:0012480 en fr rdfs:label label of HP:0012480 (Abnormality of cerebral veins) ; abnormality of the nervous system ; abnormality of the cardiovascular system Abnormality of cerebral veins OFFICIAL Anomalie des veines cérébrales +HP:0012490 en fr IAO:0000115 definition of HP:0012490 (Panniculitis) ; abnormality of the immune system ; abnormality of connective tissue Inflammation of adipose tissue NOT_TRANSLATED Inflammation of adipose tissue HP:0012501 en fr rdfs:label label of HP:0012501 (Abnormality of the brainstem white matter) ; abnormality of the nervous system Abnormality of the brainstem white matter OFFICIAL Anomalie de la substance blanche du tronc cérébral HP:0012503 en fr rdfs:label label of HP:0012503 (Abnormality of the pituitary gland) ; abnormality of the endocrine system ; abnormality of the nervous system Abnormality of the pituitary gland OFFICIAL Anomalie de l'hypophyse HP:0012517 en fr IAO:0000115 definition of HP:0012517 (Reduced catalase activity) ; abnormality of metabolism/homeostasis An abnormally decreased amount of catalase activity NOT_TRANSLATED An abnormally decreased amount of catalase activity HP:0012517 en fr rdfs:label label of HP:0012517 (Reduced catalase activity) ; abnormality of metabolism/homeostasis Reduced catalase activity OFFICIAL Activité réduite de la catalase HP:0012519 en fr IAO:0000115 definition of HP:0012519 (Hypoplastic posterior communicating artery) ; abnormality of the nervous system ; abnormality of the cardiovascular system Underdeveloped posterior communicating artery NOT_TRANSLATED Underdeveloped posterior communicating artery HP:0012520 en fr rdfs:label label of HP:0012520 (Perivascular spaces) ; abnormality of the nervous system ; abnormality of the cardiovascular system Perivascular spaces OFFICIAL Espaces périvasculaires +HP:0012526 en fr IAO:0000115 definition of HP:0012526 (Absence of alpha granules) ; abnormality of blood and blood-forming tissues A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears NOT_TRANSLATED A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears HP:0012534 en fr IAO:0000115 definition of HP:0012534 (Dysesthesia) ; abnormality of the nervous system Abnormal sensations with no apparent physical cause that are painful or unpleasant NOT_TRANSLATED Abnormal sensations with no apparent physical cause that are painful or unpleasant HP:0012544 en fr IAO:0000115 definition of HP:0012544 (Elevated aldolase level) ; abnormality of metabolism/homeostasis An increased concentration of fructose 1,6-bisphosphate aldolase in the serum NOT_TRANSLATED An increased concentration of fructose 1,6-bisphosphate aldolase in the serum HP:0012544 en fr rdfs:label label of HP:0012544 (Elevated aldolase level) ; abnormality of metabolism/homeostasis Elevated aldolase level OFFICIAL Dosage d'aldolase élevé @@ -1183,6 +1234,8 @@ HP:0012880 en fr rdfs:label label of HP:0012880 (Abnormality of the labia minora HP:0012881 en fr rdfs:label label of HP:0012881 (Abnormality of the labia majora) ; abnormality of the genitourinary system Abnormality of the labia majora OFFICIAL Anomalie des grandes lèvres HP:0012888 en fr rdfs:label label of HP:0012888 (Abnormality of the uterine cervix) ; abnormality of the genitourinary system Abnormality of the uterine cervix OFFICIAL Anomalie du col de l'utérus HP:0020006 en fr IAO:0000115 definition of HP:0020006 (Ciliary body coloboma) ; abnormality of the eye A `coloboma` (HP:0000589) of the ciliary body NOT_TRANSLATED A `coloboma` (HP:0000589) of the ciliary body +HP:0020042 en fr IAO:0000115 definition of HP:0020042 (Double depressor palsy) ; abnormality of the eye An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye NOT_TRANSLATED An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye +HP:0020063 en fr rdfs:label label of HP:0020063 (Increased hemoglobin concentration) ; abnormality of blood and blood-forming tissues Increased hemoglobin concentration OFFICIAL Augmentation de la concentration d'hémoglobine HP:0025028 en fr rdfs:label label of HP:0025028 (Abnormality of enteric nervous system morphology) ; abnormality of the nervous system ; abnormality of the digestive system Abnormality of enteric nervous system morphology OFFICIAL Anomalie morphologique du système nerveux entérique HP:0025029 en fr rdfs:label label of HP:0025029 (Abnormality of enteric neuron morphology) ; abnormality of the nervous system ; abnormality of the digestive system Abnormality of enteric neuron morphology OFFICIAL Anomalie morphologique des neurones entériques HP:0025033 en fr rdfs:label label of HP:0025033 (Abnormality of digestive system morphology) ; abnormality of the digestive system Abnormality of digestive system morphology OFFICIAL Anomalie de la morphologie du système digestif @@ -1190,6 +1243,7 @@ HP:0025057 en fr rdfs:label label of HP:0025057 (Abnormality of olfactory lobe m HP:0025072 en fr IAO:0000115 definition of HP:0025072 (Prominent U wave) ; abnormality of the cardiovascular system Increased amplitude of the U wave, defined as an amplitude grerater than 1-2mm or 25 percent of the height of the T wave NOT_TRANSLATED Increased amplitude of the U wave, defined as an amplitude grerater than 1-2mm or 25 percent of the height of the T wave HP:0025100 en fr rdfs:label label of HP:0025100 (Abnormal morphology of the hippocampus) ; abnormality of the nervous system Abnormal morphology of the hippocampus OFFICIAL Morphologie anormale de l'hippocampe HP:0025104 en fr IAO:0000115 definition of HP:0025104 (Capillary malformation) ; abnormality of the integument A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a cpillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules) NOT_TRANSLATED A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a cpillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules) +HP:0025105 en fr IAO:0000115 definition of HP:0025105 (Nevus anemicus) ; abnormality of the integument A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anaemic spots/ NOT_TRANSLATED A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anaemic spots/ HP:0025109 en fr IAO:0000115 definition of HP:0025109 (Reduced red cell pyruvate kinase activity) ; abnormality of metabolism/homeostasis ; abnormality of blood and blood-forming tissues Decrease in the activity of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate NOT_TRANSLATED Decrease in the activity of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate HP:0025109 en fr rdfs:label label of HP:0025109 (Reduced red cell pyruvate kinase activity) ; abnormality of metabolism/homeostasis ; abnormality of blood and blood-forming tissues Reduced red cell pyruvate kinase activity OFFICIAL Réduction de l'activité de la pyruvate kinase du globule rouge HP:0025112 en fr rdfs:label label of HP:0025112 (Sound sensitivity) ; abnormality of the nervous system Sound sensitivity OFFICIAL Sensibilité au son @@ -1206,6 +1260,7 @@ HP:0025175 en fr IAO:0000115 definition of HP:0025175 (Honeycomb lung) ; abnorm HP:0025176 en fr IAO:0000115 definition of HP:0025176 (Intralobular interstitial thickening) ; abnormality of the respiratory system A fine reticular pattern on high-resolution computeed tomography, with the visible lines separated by a few millimeters. Regions of the lung with intralobular interstitial thickening characteristically show a fine lacelike or netlike appearance NOT_TRANSLATED A fine reticular pattern on high-resolution computeed tomography, with the visible lines separated by a few millimeters. Regions of the lung with intralobular interstitial thickening characteristically show a fine lacelike or netlike appearance HP:0025179 en fr IAO:0000115 definition of HP:0025179 (Ground-glass opacification on pulmonary HRCT) ; abnormality of the respiratory system A descriptive term that is applied to computer tomography imaging and that refers to a hazy area of increased attenuation in the lung with preserved bronchial and vascular markings NOT_TRANSLATED A descriptive term that is applied to computer tomography imaging and that refers to a hazy area of increased attenuation in the lung with preserved bronchial and vascular markings HP:0025179 en fr rdfs:label label of HP:0025179 (Ground-glass opacification on pulmonary HRCT) ; abnormality of the respiratory system Ground-glass opacification on pulmonary HRCT OFFICIAL Opacification en verre dépoli sur la le TDM pulmonaire +HP:0025186 en fr IAO:0000115 definition of HP:0025186 (Marcus Gunn jaw winking synkinesis) ; abnormality of the eye Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing NOT_TRANSLATED Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing HP:0025190 en fr IAO:0000115 definition of HP:0025190 (Generalized tonic-clonic seizures without focal onset) ; abnormality of the nervous system A type of generalized tonic-clonic seizure that occurs in and rapidly engages bilaterally distributed networks NOT_TRANSLATED A type of generalized tonic-clonic seizure that occurs in and rapidly engages bilaterally distributed networks HP:0025190 en fr rdfs:label label of HP:0025190 (Generalized tonic-clonic seizures without focal onset) ; abnormality of the nervous system Generalized tonic-clonic seizures without focal onset OFFICIAL Crises tonico-cloniques généralisées sans début focal HP:0025191 en fr rdfs:label label of HP:0025191 (Segmental myoclonic seizures) ; abnormality of the nervous system Segmental myoclonic seizures OFFICIAL Crises myocloniques segmentaires @@ -1239,8 +1294,11 @@ HP:0025368 en fr rdfs:label label of HP:0025368 (Abnormality of growth plate mor HP:0025372 en fr IAO:0000115 definition of HP:0025372 (Loud snoring) ; abnormality of the nervous system ; abnormality of the respiratory system Particularly loud snoring, snoring at high volume NOT_TRANSLATED Particularly loud snoring, snoring at high volume HP:0025380 en fr IAO:0000115 definition of HP:0025380 (Increased serum androstenedione) ; abnormality of the endocrine system Increased level of circulating 4-androstenedione NOT_TRANSLATED Increased level of circulating 4-androstenedione HP:0025380 en fr rdfs:label label of HP:0025380 (Increased serum androstenedione) ; abnormality of the endocrine system Increased serum androstenedione OFFICIAL Augmentation du taux plasmatique de Delta4Androstènedione +HP:0025389 en fr IAO:0000115 definition of HP:0025389 (Pulmonary interstitial high-resolution computed tomography abnormality) ; abnormality of the respiratory system High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities NOT_TRANSLATED High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities +HP:0025390 en fr IAO:0000115 definition of HP:0025390 (Reticular pattern on pulmonary HRCT) ; abnormality of the respiratory system On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh NOT_TRANSLATED On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh HP:0025391 en fr IAO:0000115 definition of HP:0025391 (Crazy paving pattern on pulmonary HRCT) ; abnormality of the respiratory system The so-called crazy paving pattern is characterised on HRCT by the presence of thickened interlobular septae and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones NOT_TRANSLATED The so-called crazy paving pattern is characterised on HRCT by the presence of thickened interlobular septae and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones HP:0025391 en fr rdfs:label label of HP:0025391 (Crazy paving pattern on pulmonary HRCT) ; abnormality of the respiratory system Crazy paving pattern on pulmonary HRCT OFFICIAL Modèle de pavé fou sur la TDM pulmonaire +HP:0025392 en fr IAO:0000115 definition of HP:0025392 (Nodular pattern on pulmonary HRCT) ; abnormality of the respiratory system A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter NOT_TRANSLATED A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter HP:0025418 en fr IAO:0000115 definition of HP:0025418 (Renal cortical necrosis) ; abnormality of the genitourinary system Death of tissue in the outer part of the kidney NOT_TRANSLATED Death of tissue in the outer part of the kidney HP:0025419 en fr IAO:0000115 definition of HP:0025419 (Pulmonary pneumatocele) ; abnormality of the respiratory system An air-filled cystic space within a lung NOT_TRANSLATED An air-filled cystic space within a lung HP:0025426 en fr IAO:0000115 definition of HP:0025426 (Abnormal bronchus morphology) ; abnormality of the respiratory system Any anomaly of the morphology of the bronchi NOT_TRANSLATED Any anomaly of the morphology of the bronchi @@ -1265,9 +1323,13 @@ HP:0025484 en fr rdfs:label label of HP:0025484 (Increased circulating thyroglob HP:0025485 en fr IAO:0000115 definition of HP:0025485 (Vaginal adenosis) ; abnormality of the genitourinary system Vaginal adenosis is defined by the presence of metaplastic cervical or endometrial epithelium within the vaginal wall, thought to be derived from persistent Müllerian (synonymous with paramesonephric) epithelium islets in postembryonic life NOT_TRANSLATED Vaginal adenosis is defined by the presence of metaplastic cervical or endometrial epithelium within the vaginal wall, thought to be derived from persistent Müllerian (synonymous with paramesonephric) epithelium islets in postembryonic life HP:0025487 en fr rdfs:label label of HP:0025487 (Abnormality of bladder morphology) ; abnormality of the genitourinary system Abnormality of bladder morphology OFFICIAL Anomalie de la morphologie de la vessie HP:0025510 en fr rdfs:label label of HP:0025510 (Nevus spillus) ; abnormality of the integument Nevus spillus OFFICIAL Naevus spillus +HP:0025531 en fr IAO:0000115 definition of HP:0025531 (Harlequin phenomenon) ; abnormality of the integument The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body NOT_TRANSLATED The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body HP:0025534 en fr IAO:0000115 definition of HP:0025534 (Ocular melanocytosis) ; abnormality of the eye A congenital lesionof the sclera characterized by unilateral patchy but extensive slate-gray or bluish discoloration of the sclera . The conjunctiva are spared NOT_TRANSLATED A congenital lesionof the sclera characterized by unilateral patchy but extensive slate-gray or bluish discoloration of the sclera . The conjunctiva are spared HP:0025550 en fr IAO:0000115 definition of HP:0025550 (Elevated circulating ribitol concentration) ; abnormality of metabolism/homeostasis An increase above the normal concentration of ribitol in the blood NOT_TRANSLATED An increase above the normal concentration of ribitol in the blood HP:0025553 en fr IAO:0000115 definition of HP:0025553 (Periorbital ecchymosis with tarsal plate sparing) ; abnormality of head or neck Subcutaneous bleeding with a diamter greater than 1 cm (ecchymosis). The bleeding does not extend into the tarsal plate (the comparatively thick, elongated plates of dense connective tissue within the eyelid) due to an anatomic structure called the orbital septum, which limits extravasation of blood beyond the tarsal plate NOT_TRANSLATED Subcutaneous bleeding with a diamter greater than 1 cm (ecchymosis). The bleeding does not extend into the tarsal plate (the comparatively thick, elongated plates of dense connective tissue within the eyelid) due to an anatomic structure called the orbital septum, which limits extravasation of blood beyond the tarsal plate +HP:0025559 en fr IAO:0000115 definition of HP:0025559 (Coronary cataract) ; abnormality of the eye A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown NOT_TRANSLATED A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown +HP:0025567 en fr IAO:0000115 definition of HP:0025567 (Central serous chorioretinopathy) ; abnormality of the eye An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the centre of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months NOT_TRANSLATED An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the centre of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months +HP:0025571 en fr IAO:0000115 definition of HP:0025571 (Christmas tree cataract) ; abnormality of the eye A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree NOT_TRANSLATED A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree HP:0025585 en fr IAO:0000115 definition of HP:0025585 (Hyperphoria) ; abnormality of the eye Tendency for the visual ais of one eye to be higher than that of the other NOT_TRANSLATED Tendency for the visual ais of one eye to be higher than that of the other HP:0025610 en fr IAO:0000115 definition of HP:0025610 (Posterior blepharitis) ; abnormality of head or neck ; abnormality of the immune system ; abnormality of the eye A type of blepharitis that affects the meibomian glands and meobomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia NOT_TRANSLATED A type of blepharitis that affects the meibomian glands and meobomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia HP:0025613 en fr IAO:0000115 definition of HP:0025613 (Focal emotional seizure) ; abnormality of the nervous system A type of focal-onset seizure characterized by alterations in mood or emotion, or the appearance of altered emotion without the subjective emotion, at seizure onset. These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer NOT_TRANSLATED A type of focal-onset seizure characterized by alterations in mood or emotion, or the appearance of altered emotion without the subjective emotion, at seizure onset. These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer @@ -1319,6 +1381,8 @@ HP:0030272 en fr rdfs:label label of HP:0030272 (Abnormal erythrocyte enzyme act HP:0030273 en fr IAO:0000115 definition of HP:0030273 (Reduced red cell adenosine deaminase activity) ; abnormality of metabolism/homeostasis ; abnormality of blood and blood-forming tissues Decrease in the activity of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine NOT_TRANSLATED Decrease in the activity of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine HP:0030273 en fr rdfs:label label of HP:0030273 (Reduced red cell adenosine deaminase activity) ; abnormality of metabolism/homeostasis ; abnormality of blood and blood-forming tissues Reduced red cell adenosine deaminase activity OFFICIAL Activité réduite de l'adénosine désaminase du globule rouge HP:0030276 en fr rdfs:label label of HP:0030276 (Small scrotum) ; abnormality of the genitourinary system Small scrotum OFFICIAL Petit scrotum +HP:0030299 en fr rdfs:label label of HP:0030299 (Distal femoral metaphyseal abnormality) ; abnormality of limbs ; abnormality of the skeletal system Distal femoral metaphyseal abnormality OFFICIAL Anomalie de la métaphyse du fémur distal +HP:0030320 en fr IAO:0000115 definition of HP:0030320 (Increased intervertebral space) ; abnormality of the skeletal system An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space NOT_TRANSLATED An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space HP:0030327 en fr IAO:0000115 definition of HP:0030327 (Abnormal osteoclast count) ; abnormality of the immune system ; abnormality of blood and blood-forming tissues An anomaly in the number of osteoclasts, bone-resorbing cells that develop from macrophages NOT_TRANSLATED An anomaly in the number of osteoclasts, bone-resorbing cells that develop from macrophages HP:0030328 en fr IAO:0000115 definition of HP:0030328 (Decreased osteoclast count) ; abnormality of the immune system ; abnormality of blood and blood-forming tissues Decreased number of osteoclasts NOT_TRANSLATED Decreased number of osteoclasts HP:0030338 en fr rdfs:label label of HP:0030338 (Abnormal circulating gonadotropin level) ; abnormality of the endocrine system Abnormal circulating gonadotropin level OFFICIAL Taux de gonadotrophines circulantes anormal @@ -1340,13 +1404,18 @@ HP:0030408 en fr IAO:0000115 definition of HP:0030408 (Pineoblastoma) ; abnorma HP:0030417 en fr IAO:0000115 definition of HP:0030417 (Squamous cell carcinoma of the vulva) ; abnormality of the genitourinary system ; neoplasm A cancer that originates in the sqamous cells that line the surface of the vulva NOT_TRANSLATED A cancer that originates in the sqamous cells that line the surface of the vulva HP:0030450 en fr rdfs:label label of HP:0030450 (Neuroplasm of the autonomic nervous system) ; abnormality of the nervous system ; neoplasm Neuroplasm of the autonomic nervous system OFFICIAL Neuroplasme du système nerveux autonome HP:0030495 en fr rdfs:label label of HP:0030495 (Abnormality of macular vasculature) ; abnormality of the eye Abnormality of macular vasculature OFFICIAL Anomalie de la vascularisation maculaire +HP:0030497 en fr IAO:0000115 definition of HP:0030497 (Macular cotton wool spot) ; abnormality of the eye Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels NOT_TRANSLATED Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels HP:0030508 en fr rdfs:label label of HP:0030508 (Retinal cavernous hemangioma) ; abnormality of head or neck ; neoplasm ; abnormality of the eye Retinal cavernous hemangioma OFFICIAL Hémangiome caverneux rétinien HP:0030515 en fr IAO:0000115 definition of HP:0030515 (Moderately reduced visual acuity) ; abnormality of the eye Moderate reduction of the ability to see defined as visual acuity less than 6/18 (20/60 in US notation; 0.5 in decimal notation) but at least 6/60 (20/200 in US notation; 0.1 in decimal notation) NOT_TRANSLATED Moderate reduction of the ability to see defined as visual acuity less than 6/18 (20/60 in US notation; 0.5 in decimal notation) but at least 6/60 (20/200 in US notation; 0.1 in decimal notation) HP:0030599 en fr rdfs:label label of HP:0030599 (Abnormal Estermann grid perimetry test) ; abnormality of the eye Abnormal Estermann grid perimetry test OFFICIAL Anomalie du test de périmétrie sur grille d'Estermann HP:0030636 en fr IAO:0000115 definition of HP:0030636 (Occult macular dystrophy) ; abnormality of the eye Occult macular dystrophy is a, typically hereditary, abnormality of the macula associated with progressive foveal cone dysfunction and no apparent fundoscopic, full-field electoretinogram (ERG), or fluorescein angiogram abnormalities NOT_TRANSLATED Occult macular dystrophy is a, typically hereditary, abnormality of the macula associated with progressive foveal cone dysfunction and no apparent fundoscopic, full-field electoretinogram (ERG), or fluorescein angiogram abnormalities +HP:0030637 en fr IAO:0000115 definition of HP:0030637 (Congenital stationary cone dysfunction) ; abnormality of the eye Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia NOT_TRANSLATED Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia +HP:0030664 en fr IAO:0000115 definition of HP:0030664 (Beevor's sign) ; abnormality of the musculature ; abnormality of the digestive system Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus NOT_TRANSLATED Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus HP:0030671 en fr IAO:0000115 definition of HP:0030671 (Abnormal common tendinous ring morphology) ; abnormality of head or neck Any anomaly of the ring of fibrous tissue that surrounds the optic nerve at its entrance at the apex of the orbit. The common tendinous ring, also know as the annulus of Zinn or annular tendon, is the origin for five of the seven extraocular muscles NOT_TRANSLATED Any anomaly of the ring of fibrous tissue that surrounds the optic nerve at its entrance at the apex of the orbit. The common tendinous ring, also know as the annulus of Zinn or annular tendon, is the origin for five of the seven extraocular muscles +HP:0030680 en fr IAO:0000115 definition of HP:0030680 (Abnormality of cardiovascular system morphology) ; abnormality of the cardiovascular system Any structural anomaly of the heart and great vessels NOT_TRANSLATED Any structural anomaly of the heart and great vessels HP:0030680 en fr rdfs:label label of HP:0030680 (Abnormality of cardiovascular system morphology) ; abnormality of the cardiovascular system Abnormality of cardiovascular system morphology OFFICIAL Anomalie morphologique du système cardiovasculaire HP:0030713 en fr IAO:0000115 definition of HP:0030713 (Vein of Galen aneurysmal malformation) ; abnormality of the nervous system ; abnormality of the cardiovascular system Gross dilatation of the vein of Galen, being fed by large anomalous vessel or vessels arising from the carotid or basilar circulation NOT_TRANSLATED Gross dilatation of the vein of Galen, being fed by large anomalous vessel or vessels arising from the carotid or basilar circulation +HP:0030715 en fr IAO:0000115 definition of HP:0030715 (Bronchial atresia) ; abnormality of the respiratory system A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis NOT_TRANSLATED A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis HP:0030743 en fr IAO:0000115 definition of HP:0030743 (Glial remnants anterior to the optic disc) ; abnormality of the eye Persistanced of a posterior remnant of the hyaloid artery located at the optic disc NOT_TRANSLATED Persistanced of a posterior remnant of the hyaloid artery located at the optic disc HP:0030744 en fr IAO:0000115 definition of HP:0030744 (Hyaloid vascular remnant and retrolental mass) ; abnormality of the eye A type of persistance of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract NOT_TRANSLATED A type of persistance of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract HP:0030745 en fr IAO:0000115 definition of HP:0030745 (Dilatation of the ductus arteriosus) ; abnormality of the cardiovascular system A saccular or fusiform dilation and elongation of the ductus arteriosus NOT_TRANSLATED A saccular or fusiform dilation and elongation of the ductus arteriosus @@ -1406,6 +1475,8 @@ HP:0031075 en fr IAO:0000115 definition of HP:0031075 (Abnormal response to insu HP:0031085 en fr IAO:0000115 definition of HP:0031085 (Decreased prealbumin level) ; abnormality of metabolism/homeostasis A reduced concentration of prealbumin in the blood. Prealbumin, also known as transthyretin, has a half-life in plasma of about 2 days, much shorter than that of albumin. Prealbumin is therefore more sensitive to changes in protein-energy status than albumin, and its concentration closely reflects recent dietary intake rather than overall nutritional status NOT_TRANSLATED A reduced concentration of prealbumin in the blood. Prealbumin, also known as transthyretin, has a half-life in plasma of about 2 days, much shorter than that of albumin. Prealbumin is therefore more sensitive to changes in protein-energy status than albumin, and its concentration closely reflects recent dietary intake rather than overall nutritional status HP:0031085 en fr rdfs:label label of HP:0031085 (Decreased prealbumin level) ; abnormality of metabolism/homeostasis Decreased prealbumin level OFFICIAL Diminution du taux de préalbumine HP:0031099 en fr IAO:0000115 definition of HP:0031099 (Abnormal circulating inhibin level) ; abnormality of the endocrine system Any deviation from the normal concentration of iInhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone NOT_TRANSLATED Any deviation from the normal concentration of iInhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone +HP:0031100 en fr IAO:0000115 definition of HP:0031100 (Decreased inhibin B level) ; abnormality of the endocrine system A reduced concentration of inhibin B in the blood NOT_TRANSLATED A reduced concentration of inhibin B in the blood +HP:0031100 en fr rdfs:label label of HP:0031100 (Decreased inhibin B level) ; abnormality of the endocrine system Decreased inhibin B level OFFICIAL Diminution du taux d'inhibine B HP:0031101 en fr rdfs:label label of HP:0031101 (Abnormal antimullerian hormone level) ; abnormality of the endocrine system Abnormal antimullerian hormone level OFFICIAL Anomalie du taux d'hormone antimüllerienne HP:0031102 en fr rdfs:label label of HP:0031102 (Increased antimullerian hormone level) ; abnormality of the endocrine system Increased antimullerian hormone level OFFICIAL Augmentation du taux d'hormone antimüllérienne HP:0031103 en fr rdfs:label label of HP:0031103 (Decreased antimullerian hormone level) ; abnormality of the endocrine system Decreased antimullerian hormone level OFFICIAL Diminution du taux d'hormone antimüllérienne @@ -1417,6 +1488,7 @@ HP:0031185 en fr rdfs:label label of HP:0031185 (Increased NT-proBNP level) ; a HP:0031187 en fr rdfs:label label of HP:0031187 (Abnormality of circulating pregnenolone level) ; abnormality of the endocrine system Abnormality of circulating pregnenolone level OFFICIAL Anomalie du taux de prégnénolone circulant HP:0031194 en fr IAO:0000115 definition of HP:0031194 (Increased density of left ventricular trabeculae) ; abnormality of the cardiovascular system An increased denisty (number and tightness) of the muscular columns which project from the inner surface of the left ventricles of the heart (cardiac trabeculae, trabeculae carneae) NOT_TRANSLATED An increased denisty (number and tightness) of the muscular columns which project from the inner surface of the left ventricles of the heart (cardiac trabeculae, trabeculae carneae) HP:0031195 en fr IAO:0000115 definition of HP:0031195 (Apical hypertrabeculation of the left ventricle) ; abnormality of the cardiovascular system An increased number and denisty of the trabeculae in the apex (tip) of the left ventricle NOT_TRANSLATED An increased number and denisty of the trabeculae in the apex (tip) of the left ventricle +HP:0031203 en fr IAO:0000115 definition of HP:0031203 (Fatty casts) ; abnormality of metabolism/homeostasis ; abnormality of the genitourinary system A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses NOT_TRANSLATED A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses HP:0031208 en fr IAO:0000115 definition of HP:0031208 (Increased pituitary glycoprotein alpha subunit level) ; abnormality of the endocrine system An increased concentration of circulating alpha polypeptide of glycoprotein hormones (Entrez Gene 1081). This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones NOT_TRANSLATED An increased concentration of circulating alpha polypeptide of glycoprotein hormones (Entrez Gene 1081). This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones HP:0031208 en fr rdfs:label label of HP:0031208 (Increased pituitary glycoprotein alpha subunit level) ; abnormality of the endocrine system Increased pituitary glycoprotein alpha subunit level OFFICIAL Augmentation du niveau de la sous-unité alpha des hormones glycoprotéiques hypophysaires HP:0031209 en fr IAO:0000115 definition of HP:0031209 (Decreased lipoprotein lipase activity) ; abnormality of metabolism/homeostasis Reduction in the activity of lipoprotein lipase in the blood NOT_TRANSLATED Reduction in the activity of lipoprotein lipase in the blood @@ -1504,7 +1576,9 @@ HP:0031593 en fr IAO:0000115 definition of HP:0031593 (Abnormal PR interval) ; HP:0031597 en fr IAO:0000115 definition of HP:0031597 (PR segment elevation) ; abnormality of the cardiovascular system An increase in voltage of the PR segment below baseline NOT_TRANSLATED An increase in voltage of the PR segment below baseline HP:0031600 en fr IAO:0000115 definition of HP:0031600 (P wave inversion) ; abnormality of the cardiovascular system P wave below insteadof above the baseline. P-wave inversion in the inferior leads may indicate a non-sinus origin of the P waves NOT_TRANSLATED P wave below insteadof above the baseline. P-wave inversion in the inferior leads may indicate a non-sinus origin of the P waves HP:0031602 en fr IAO:0000115 definition of HP:0031602 (Abnormal mucociliary clearance) ; abnormality of the respiratory system An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary nbeating NOT_TRANSLATED An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary nbeating +HP:0031606 en fr IAO:0000115 definition of HP:0031606 (Retinal cotton wool spot) ; abnormality of the eye Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels NOT_TRANSLATED Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels HP:0031643 en fr IAO:0000115 definition of HP:0031643 (Fusiform ascending tubular aorta aneurysm) ; abnormality of the cardiovascular system An eccentric abnormal localized widening (dilatation) of the ascending tubular aorta that involves only a portion of the circumference of the vessel wall NOT_TRANSLATED An eccentric abnormal localized widening (dilatation) of the ascending tubular aorta that involves only a portion of the circumference of the vessel wall +HP:0031671 en fr IAO:0000115 definition of HP:0031671 (Typical atrial flutter) ; abnormality of the cardiovascular system Typical atrial flutter is an organised atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative NOT_TRANSLATED Typical atrial flutter is an organised atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative HP:0031673 en fr IAO:0000115 definition of HP:0031673 (Orthodromic atrioventricular reentrant tachycardia) ; abnormality of the cardiovascular system A type of atrioventricular reentrant tachycardia (AVRT) where the are the atrioventricular node is used for anterograde conduction and the accessory pathway for retrograde conduction NOT_TRANSLATED A type of atrioventricular reentrant tachycardia (AVRT) where the are the atrioventricular node is used for anterograde conduction and the accessory pathway for retrograde conduction HP:0031674 en fr IAO:0000115 definition of HP:0031674 (Antidromic atrioventricular reentrant tachycardia) ; abnormality of the cardiovascular system A type of atrioventricular reentrant tachycardia (AVRT) where the are the accessory pathway is used for anterograde conduction and the atrioventricular node for retrograde conduction NOT_TRANSLATED A type of atrioventricular reentrant tachycardia (AVRT) where the are the accessory pathway is used for anterograde conduction and the atrioventricular node for retrograde conduction HP:0031688 en fr IAO:0000115 definition of HP:0031688 (Erythroid dysplasia) ; abnormality of blood and blood-forming tissues Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts. In peripheral blood NOT_TRANSLATED Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts. In peripheral blood @@ -1518,6 +1592,7 @@ HP:0031798 en fr rdfs:label label of HP:0031798 (Elevated apolipoprotein B level HP:0031799 en fr IAO:0000115 definition of HP:0031799 (Decreased apolipoprotein AI level) ; abnormality of metabolism/homeostasis Reduced criculating level of apolipoprotein AI, which is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease NOT_TRANSLATED Reduced criculating level of apolipoprotein AI, which is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease HP:0031799 en fr rdfs:label label of HP:0031799 (Decreased apolipoprotein AI level) ; abnormality of metabolism/homeostasis Decreased apolipoprotein AI level OFFICIAL Diminution du taux d'apolipoprotéine AI HP:0031800 en fr rdfs:label label of HP:0031800 (Elevated apolipoprotein A-II level) ; abnormality of metabolism/homeostasis Elevated apolipoprotein A-II level OFFICIAL Taux élevé d'apolipoprotéine A-II +HP:0031805 en fr IAO:0000115 definition of HP:0031805 (Intraretinal hemorrhage) ; abnormality of the cardiovascular system ; abnormality of the eye ; abnormality of blood and blood-forming tissues A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal haemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina NOT_TRANSLATED A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal haemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina HP:0031814 en fr IAO:0000115 definition of HP:0031814 (Palilalia) ; abnormality of the nervous system Repetition of one's own words or phrases NOT_TRANSLATED Repetition of one's own words or phrases HP:0031829 en fr IAO:0000115 definition of HP:0031829 (Absent cremaster reflex) ; abnormality of the nervous system Lack of response to scratching of the skin of the medial thigh, which inmales normally elicits a brisk, short eveletion of the ipsilateral testis, a phenomenon that is referred to as the cremaster reflex NOT_TRANSLATED Lack of response to scratching of the skin of the medial thigh, which inmales normally elicits a brisk, short eveletion of the ipsilateral testis, a phenomenon that is referred to as the cremaster reflex HP:0031835 en fr rdfs:label label of HP:0031835 (Abnormal superoxide dismutase activity) ; abnormality of metabolism/homeostasis Abnormal superoxide dismutase activity OFFICIAL Activité superoxyde dismutase anormale @@ -1548,6 +1623,7 @@ HP:0031907 en fr IAO:0000115 definition of HP:0031907 (Anti-mitochondrial M2 ant HP:0031908 en fr IAO:0000115 definition of HP:0031908 (Micrographia) ; abnormality of the nervous system Abnormally small sized handwriting defined formally as an impairment of a fine motor skill manifesting mainly as a progressive or stable reduction in amplitude during a writing task NOT_TRANSLATED Abnormally small sized handwriting defined formally as an impairment of a fine motor skill manifesting mainly as a progressive or stable reduction in amplitude during a writing task HP:0031915 en fr IAO:0000115 definition of HP:0031915 (Stable) ; clinicalcourse This modifer can be applied to a phenotypic feature that does not vary in severity or amount over time NOT_TRANSLATED This modifer can be applied to a phenotypic feature that does not vary in severity or amount over time HP:0031917 en fr IAO:0000115 definition of HP:0031917 (Digital ulcer) ; abnormality of the integument On open sore on the surface of the skin of a finger or toe NOT_TRANSLATED On open sore on the surface of the skin of a finger or toe +HP:0031931 en fr IAO:0000115 definition of HP:0031931 (Ocular flutter) ; abnormality of the eye Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behaviour and its occurrence may be favoured by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation NOT_TRANSLATED Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behaviour and its occurrence may be favoured by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation HP:0031932 en fr IAO:0000115 definition of HP:0031932 (Aorto-left ventricular tunnel) ; abnormality of the cardiovascular system Aorto-left ventricular tunnel (ALVT) is a congenital extracardiac channel connecting the ascending aorta above the sino-tubular junction to either left ventricular cavity NOT_TRANSLATED Aorto-left ventricular tunnel (ALVT) is a congenital extracardiac channel connecting the ascending aorta above the sino-tubular junction to either left ventricular cavity HP:0031937 en fr IAO:0000115 definition of HP:0031937 (Tachylalia) ; abnormality of the nervous system Extreme rapidity of speech NOT_TRANSLATED Extreme rapidity of speech HP:0031938 en fr IAO:0000115 definition of HP:0031938 (Abnormal conus terminalis morphology) ; abnormality of the nervous system Any structural anomaly of the conus terminalis, which is the distal bulbous part of the spinal cord at the location where the spinal cord tapers and ends (usaully between the L1 and L2 lumbar vertebrae) NOT_TRANSLATED Any structural anomaly of the conus terminalis, which is the distal bulbous part of the spinal cord at the location where the spinal cord tapers and ends (usaully between the L1 and L2 lumbar vertebrae) @@ -1557,14 +1633,24 @@ HP:0031956 en fr IAO:0000115 definition of HP:0031956 (Elevated serum aspartate HP:0031956 en fr rdfs:label label of HP:0031956 (Elevated serum aspartate aminotransferase) ; abnormality of the digestive system Elevated serum aspartate aminotransferase OFFICIAL Taux élevé d'aspartate aminotransférase sérique HP:0031964 en fr IAO:0000115 definition of HP:0031964 (Elevated serum alanine aminotransferase) ; abnormality of the digestive system An abnormally high concentration in the circulation of alanine aminotransferase (ALT), which is an enzyme that catalyzes the transfer of amino groups to form the hepatic metabolite oxaloacetate. ALT is found abundantly in the cytosol of the hepatocyte. ALT activity in the liver is about 3000 times that of serum activity. Thus, in the case of hepatocellular injury or death, release of ALT from damaged liver cells increases measured ALT activity in the serum. Although it is generally thought to be specific to the liver, it is also found in the kidney, and, in much smaller quantities, in heart and skeletal muscle cells NOT_TRANSLATED An abnormally high concentration in the circulation of alanine aminotransferase (ALT), which is an enzyme that catalyzes the transfer of amino groups to form the hepatic metabolite oxaloacetate. ALT is found abundantly in the cytosol of the hepatocyte. ALT activity in the liver is about 3000 times that of serum activity. Thus, in the case of hepatocellular injury or death, release of ALT from damaged liver cells increases measured ALT activity in the serum. Although it is generally thought to be specific to the liver, it is also found in the kidney, and, in much smaller quantities, in heart and skeletal muscle cells HP:0031964 en fr rdfs:label label of HP:0031964 (Elevated serum alanine aminotransferase) ; abnormality of the digestive system Elevated serum alanine aminotransferase OFFICIAL Alanine aminotransférase sérique élevée +HP:0031973 en fr IAO:0000115 definition of HP:0031973 (Increased vertical cup-to-disc ratio) ; abnormality of the eye An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc NOT_TRANSLATED An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc HP:0031974 en fr IAO:0000115 definition of HP:0031974 (Increased vertical cup-to-disc ratio - 0.6) ; abnormality of the eye Ratio of the height of the cup of the optic nerve head to the height of the disc (The normal cup-to-disc ratio is 0.3) NOT_TRANSLATED Ratio of the height of the cup of the optic nerve head to the height of the disc (The normal cup-to-disc ratio is 0.3) +HP:0031975 en fr IAO:0000115 definition of HP:0031975 (Increased vertical cup-to-disc ratio - 0.7) ; abnormality of the eye Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.7 (The normal cup-to-disc ratio is 0.3) NOT_TRANSLATED Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.7 (The normal cup-to-disc ratio is 0.3) +HP:0031976 en fr IAO:0000115 definition of HP:0031976 (Increased vertical cup-to-disc ratio - 0.8) ; abnormality of the eye Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3) NOT_TRANSLATED Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3) +HP:0031977 en fr IAO:0000115 definition of HP:0031977 (Increased vertical cup-to-disc ratio - 0.9) ; abnormality of the eye Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.9 (The normal cup-to-disc ratio is 0.3) NOT_TRANSLATED Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.9 (The normal cup-to-disc ratio is 0.3) +HP:0031978 en fr IAO:0000115 definition of HP:0031978 (Increased vertical cup-to-disc ratio - 1.0) ; abnormality of the eye Ratio of the height of the cup of the optic nerve head to the height of the disc is 1.0 (The normal cup-to-disc ratio is 0.3) NOT_TRANSLATED Ratio of the height of the cup of the optic nerve head to the height of the disc is 1.0 (The normal cup-to-disc ratio is 0.3) HP:0031986 en fr IAO:0000115 definition of HP:0031986 (Polyminimyoclonus) ; abnormality of the nervous system Irregular, small-amplitude myoclonic movements of the hands and/or fingers on keeping outstretched posture (jerky postural tremor). Polyminimyoclonus is stimulus-sensitive and accentuated during voluntary movements. A cortical origin can be demonstrated by back-averaging techniques, and somatosensory evoked potentials (SSEPs) are sometimes giant NOT_TRANSLATED Irregular, small-amplitude myoclonic movements of the hands and/or fingers on keeping outstretched posture (jerky postural tremor). Polyminimyoclonus is stimulus-sensitive and accentuated during voluntary movements. A cortical origin can be demonstrated by back-averaging techniques, and somatosensory evoked potentials (SSEPs) are sometimes giant HP:0031993 en fr IAO:0000115 definition of HP:0031993 (Hoffmann sign) ; abnormality of the nervous system A Hoffman test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test NOT_TRANSLATED A Hoffman test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test HP:0031995 en fr IAO:0000115 definition of HP:0031995 (Squawks) ; abnormality of the respiratory system Squawks are short inspiratory wheezes of less than 200 msduration and are also known as squeaks. Acoustic analysis shows the fundamental frequency varying between 200 and 300 Hz. Squawks usually occur in late inspiration and areoften preceded by late inspiratory crackles NOT_TRANSLATED Squawks are short inspiratory wheezes of less than 200 msduration and are also known as squeaks. Acoustic analysis shows the fundamental frequency varying between 200 and 300 Hz. Squawks usually occur in late inspiration and areoften preceded by late inspiratory crackles HP:0032024 en fr IAO:0000115 definition of HP:0032024 (Ileal ulcer) ; abnormality of the digestive system An erosion of the mucous membrane of in a portion of the ileum NOT_TRANSLATED An erosion of the mucous membrane of in a portion of the ileum HP:0032025 en fr IAO:0000115 definition of HP:0032025 (Reduced serum alpha-1-antitrypsin) ; abnormality of metabolism/homeostasis A reduced concentration of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs NOT_TRANSLATED A reduced concentration of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs HP:0032025 en fr rdfs:label label of HP:0032025 (Reduced serum alpha-1-antitrypsin) ; abnormality of metabolism/homeostasis Reduced serum alpha-1-antitrypsin OFFICIAL Diminution de l'alpha-1-antitrypsine sérique +HP:0032027 en fr IAO:0000115 definition of HP:0032027 (Retinal dots) ; abnormality of the eye Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size NOT_TRANSLATED Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size +HP:0032028 en fr IAO:0000115 definition of HP:0032028 (Macular dots) ; abnormality of the eye Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size NOT_TRANSLATED Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size +HP:0032030 en fr IAO:0000115 definition of HP:0032030 (Lateral canthal tendon laxity) ; abnormality of head or neck Laxity of the tendon stabilising the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed NOT_TRANSLATED Laxity of the tendon stabilising the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed +HP:0032031 en fr IAO:0000115 definition of HP:0032031 (Medial canthal tendon laxity) ; abnormality of head or neck Laxity of the tendon stabilising the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally NOT_TRANSLATED Laxity of the tendon stabilising the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally HP:0032032 en fr IAO:0000115 definition of HP:0032032 (Horizontal eyelid laxity) ; abnormality of head or neck Abnormally lax eyelid associated with tissue relaxation, predominantly in the horizontal plane. It can be demonstrated by the horizontal eyelid distruction test (e.g. by pulling the eyelid medially and laterally). Medial and/or lateral canthal tendon laxity are often present NOT_TRANSLATED Abnormally lax eyelid associated with tissue relaxation, predominantly in the horizontal plane. It can be demonstrated by the horizontal eyelid distruction test (e.g. by pulling the eyelid medially and laterally). Medial and/or lateral canthal tendon laxity are often present +HP:0032033 en fr IAO:0000115 definition of HP:0032033 (Vertical eyelid laxity) ; abnormality of head or neck Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilising structures (e.g. lower lid retractors) or tarsal atrophy are often present NOT_TRANSLATED Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilising structures (e.g. lower lid retractors) or tarsal atrophy are often present HP:0032036 en fr IAO:0000115 definition of HP:0032036 (Abnormal contrast sensitivity) ; abnormality of the eye An abnormality in perception of contrast. Spatial contrast is a physical dimension referring to the light-dark transition of a border or an edge in an image that delineates the existence of a pattern or an object. Contrast sensitivity refers to a measure of how much contrast a person requires to see a target. Contrast-sensitivity measurements differ from acuity measurements; acuity is a measure of the spatial-resolving ability of the visual system under conditions of very high contrast, whereas contrast sensitivity is a measure of the threshold contrast fur seeing a target NOT_TRANSLATED An abnormality in perception of contrast. Spatial contrast is a physical dimension referring to the light-dark transition of a border or an edge in an image that delineates the existence of a pattern or an object. Contrast sensitivity refers to a measure of how much contrast a person requires to see a target. Contrast-sensitivity measurements differ from acuity measurements; acuity is a measure of the spatial-resolving ability of the visual system under conditions of very high contrast, whereas contrast sensitivity is a measure of the threshold contrast fur seeing a target HP:0032036 en fr rdfs:label label of HP:0032036 (Abnormal contrast sensitivity) ; abnormality of the eye Abnormal contrast sensitivity OFFICIAL Sensibilité au contraste anormale HP:0032037 en fr IAO:0000115 definition of HP:0032037 (Mildly reduced visual acuity) ; abnormality of the eye Mild reduction of the ability to see defined as visual acuity less than 6/12 (20/40 in US notation; 0.5 in decimal notation) but at least 6/18 (20/63 in US notation; 0.32 in decimal notation) NOT_TRANSLATED Mild reduction of the ability to see defined as visual acuity less than 6/12 (20/40 in US notation; 0.5 in decimal notation) but at least 6/18 (20/63 in US notation; 0.32 in decimal notation) @@ -1588,8 +1674,10 @@ HP:0032126 en fr rdfs:label label of HP:0032126 (Decreased proportion of non-cla HP:0032148 en fr IAO:0000115 definition of HP:0032148 (Episodic pain) ; constitutional symptom Intermittant pain, i.e., pain that occurs occasionally and at irregular intervals NOT_TRANSLATED Intermittant pain, i.e., pain that occurs occasionally and at irregular intervals HP:0032161 en fr IAO:0000115 definition of HP:0032161 (Coccidioidal meningitis) ; abnormality of the nervous system ; abnormality of the immune system A type of fungal meningitis caused by dissemination of coccidioides to to basilar meninges NOT_TRANSLATED A type of fungal meningitis caused by dissemination of coccidioides to to basilar meninges HP:0032165 en fr IAO:0000115 definition of HP:0032165 (Placental mesenchymal dysplasia) ; abnormality of prenatal development or birth Placental mesenchymal dysplasia is an abnormality of the stem villi of the placenta that may be mistaken for a hydatidiform mole, and in particular, partial mole, owing to the mixture of cysts and normal-appearing parenchyma. The stem (anchoring) villi form as outgrowths of the chorionic plate early in placentogenesis and give rise to the branching villous trees NOT_TRANSLATED Placental mesenchymal dysplasia is an abnormality of the stem villi of the placenta that may be mistaken for a hydatidiform mole, and in particular, partial mole, owing to the mixture of cysts and normal-appearing parenchyma. The stem (anchoring) villi form as outgrowths of the chorionic plate early in placentogenesis and give rise to the branching villous trees +HP:0032170 en fr IAO:0000115 definition of HP:0032170 (Severe varicella zoster infection) ; abnormality of the immune system An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterised by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella NOT_TRANSLATED An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterised by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella HP:0032179 en fr rdfs:label label of HP:0032179 (Abnormal circulating globulin level) ; abnormality of metabolism/homeostasis Abnormal circulating globulin level OFFICIAL Taux de globuline circulante anormal HP:0032201 en fr IAO:0000115 definition of HP:0032201 (Rotator cuff tear) ; abnormality of the skeletal system The rotator cuff comprises four muscles (supraspinatus, infraspinatus, teres minor, and subscapularis) which attach close to the humeral head via tendons and are critically involved in stability and function of the shoulder. A rotator cuff tear is when one or more of these tendons tears or detaches from the humerus NOT_TRANSLATED The rotator cuff comprises four muscles (supraspinatus, infraspinatus, teres minor, and subscapularis) which attach close to the humeral head via tendons and are critically involved in stability and function of the shoulder. A rotator cuff tear is when one or more of these tendons tears or detaches from the humerus +HP:0032202 en fr IAO:0000115 definition of HP:0032202 (Vulvar intraepithelial neoplasia) ; abnormality of the genitourinary system ; neoplasm Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognised: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC NOT_TRANSLATED Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognised: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC HP:0032205 en fr IAO:0000115 definition of HP:0032205 (Increased circulating galectin-3 level) ; abnormality of metabolism/homeostasis Galectin-3 is a member of the family of beta-galactoside-binding endogenous lectins. It is a multifunctional factor that binds to distinct ligands and tiggers production of matrix metalloproteinases, and thereby plays a role in cardiac fibrosis and remodelling NOT_TRANSLATED Galectin-3 is a member of the family of beta-galactoside-binding endogenous lectins. It is a multifunctional factor that binds to distinct ligands and tiggers production of matrix metalloproteinases, and thereby plays a role in cardiac fibrosis and remodelling HP:0032207 en fr rdfs:label label of HP:0032207 (Abnormal cerebrospinal fluid metabolite concentration) ; abnormality of metabolism/homeostasis Abnormal cerebrospinal fluid metabolite concentration OFFICIAL Concentration anormale de métabolites dans le liquide céphalo-rachidien HP:0032208 en fr IAO:0000115 definition of HP:0032208 (Increased urinary type 1 collagen N-terminal telopeptide level) ; abnormality of metabolism/homeostasis ; abnormality of the genitourinary system An increased concentration of type 1 collagen N-terminal telopeptide (NTx) level in the urine. Generally the test is performed over a period of time, for instance, 10cc of morning urine can be collected following 12 hours overnight fasting or for 24 hours NOT_TRANSLATED An increased concentration of type 1 collagen N-terminal telopeptide (NTx) level in the urine. Generally the test is performed over a period of time, for instance, 10cc of morning urine can be collected following 12 hours overnight fasting or for 24 hours @@ -1607,6 +1695,7 @@ HP:0032238 en fr IAO:0000115 definition of HP:0032238 (Increased circulating met HP:0032239 en fr IAO:0000115 definition of HP:0032239 (Increased circulating band cell count) ; abnormality of the immune system ; abnormality of blood and blood-forming tissues An abnormally increased number of band cells in the peripheral blood circulation. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small seconday granules, and a nucleus:cytoplasm ratio of 1:2 NOT_TRANSLATED An abnormally increased number of band cells in the peripheral blood circulation. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small seconday granules, and a nucleus:cytoplasm ratio of 1:2 HP:0032248 en fr IAO:0000115 definition of HP:0032248 (Persistent viremia) ; abnormality of metabolism/homeostasis ; abnormality of the immune system Persistence of virus in the blood circulation longer than would be normal in an immunocompentent host NOT_TRANSLATED Persistence of virus in the blood circulation longer than would be normal in an immunocompentent host HP:0032256 en fr rdfs:label label of HP:0032256 (Histoplamsosis) ; abnormality of the immune system Histoplamsosis OFFICIAL Histoplamsose +HP:0032272 en fr rdfs:label label of HP:0032272 (Elevated urinary N-acetylaspartic acid level) ; abnormality of metabolism/homeostasis ; abnormality of the genitourinary system Elevated urinary N-acetylaspartic acid level OFFICIAL Concentration urinaire élevée d'acide N-acétylaspartique HP:0032273 en fr IAO:0000115 definition of HP:0032273 (Increased circulating N-Acetylaspartic acid concentration) ; abnormality of metabolism/homeostasis An abnormally increased concentration of N-Acetylaspartic acid in the blood circulation NOT_TRANSLATED An abnormally increased concentration of N-Acetylaspartic acid in the blood circulation HP:0032278 en fr IAO:0000115 definition of HP:0032278 (2-hydroxyglutarate aciduria) ; abnormality of metabolism/homeostasis ; abnormality of the genitourinary system An increase in the level of 2-hydroxyglutaric acid in the urine NOT_TRANSLATED An increase in the level of 2-hydroxyglutaric acid in the urine HP:0040021 en fr rdfs:label label of HP:0040021 (Radial deviation of the thumb) ; abnormality of limbs ; abnormality of the skeletal system Radial deviation of the thumb OFFICIAL Déviation radiale du pouce @@ -1615,6 +1704,7 @@ HP:0040045 en fr rdfs:label label of HP:0040045 (Abnormality of the hemidiaphrag HP:0040046 en fr rdfs:label label of HP:0040046 (Abnormality of the left hemidiaphragm) ; abnormality of the musculature Abnormality of the left hemidiaphragm OFFICIAL Anomalie de l'hémi-diaphragme gauche HP:0040047 en fr rdfs:label label of HP:0040047 (Abnormality of the right hemidiaphragm) ; abnormality of the musculature Abnormality of the right hemidiaphragm OFFICIAL Anomalie de l'hémi-diaphragme droit HP:0040048 en fr rdfs:label label of HP:0040048 (Aplasia of the left hemidiaphragm) ; abnormality of the musculature Aplasia of the left hemidiaphragm OFFICIAL Aplasie de l'hémi-diaphragme gauche +HP:0040057 en fr rdfs:label label of HP:0040057 (Abnormality of nasal hair) ; abnormality of the integument ; abnormality of head or neck Abnormality of nasal hair OFFICIAL Anomalie des poils du nez HP:0040065 en fr rdfs:label label of HP:0040065 (Abnormal morphology of bones of the upper limbs) ; abnormality of limbs ; abnormality of the skeletal system Abnormal morphology of bones of the upper limbs OFFICIAL Anomalie morphologique osseuse des membres supérieurs HP:0040066 en fr rdfs:label label of HP:0040066 (Abnormal morphology of bones of the lower limbs) ; abnormality of limbs ; abnormality of the skeletal system Abnormal morphology of bones of the lower limbs OFFICIAL Anomalie morphologique osseuse des membres inférieurs HP:0040069 en fr rdfs:label label of HP:0040069 (Abnormality of lower limb bone) ; abnormality of limbs ; abnormality of the skeletal system Abnormality of lower limb bone OFFICIAL Anomalie des os des membres inférieurs @@ -1636,6 +1726,7 @@ HP:0040120 en fr rdfs:label label of HP:0040120 (Abnormality of the reflex of th HP:0040123 en fr rdfs:label label of HP:0040123 (Impairment of the reflex of the tensor tympanii muscle) ; abnormality of the ear Impairment of the reflex of the tensor tympanii muscle OFFICIAL Altération du reflexe tympanique (réflexe du muscle tenseur du tympan) HP:0040124 en fr rdfs:label label of HP:0040124 (Patent tuba eustachii) ; abnormality of the ear Patent tuba eustachii OFFICIAL Trompe d'Eustache ouverte HP:0040126 en fr rdfs:label label of HP:0040126 (Abnormal vitamin B12 level) ; abnormality of metabolism/homeostasis Abnormal vitamin B12 level OFFICIAL Anomalie du taux de vitamine B12 +HP:0040130 en fr rdfs:label label of HP:0040130 (Abnormal serum iron concentration) ; abnormality of metabolism/homeostasis Abnormal serum iron concentration OFFICIAL Taux plasmatique anormal de fer HP:0040133 en fr rdfs:label label of HP:0040133 (Abnormal serum ferritin) ; abnormality of metabolism/homeostasis Abnormal serum ferritin OFFICIAL Taux plasmatique anormal de ferritine HP:0040142 en fr IAO:0000115 definition of HP:0040142 (Reduced 5-oxoprolinase activity) ; abnormality of metabolism/homeostasis Decreased activity of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate NOT_TRANSLATED Decreased activity of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate HP:0040142 en fr rdfs:label label of HP:0040142 (Reduced 5-oxoprolinase activity) ; abnormality of metabolism/homeostasis Reduced 5-oxoprolinase activity OFFICIAL Diminution de l'activité 5-oxoprolinase @@ -1662,6 +1753,7 @@ HP:0040268 en fr rdfs:label label of HP:0040268 (Recurrent infections of the mid HP:0040278 en fr rdfs:label label of HP:0040278 (Prolactinoma) ; abnormality of the endocrine system ; abnormality of the nervous system ; neoplasm Prolactinoma OFFICIAL Prolactinome HP:0040286 en fr rdfs:label label of HP:0040286 (Abnormality of axial muscles) ; abnormality of the musculature Abnormality of axial muscles OFFICIAL Anomalie des muscles axiaux HP:0040290 en fr rdfs:label label of HP:0040290 (Abnormality of skeletal muscles) ; abnormality of the musculature Abnormality of skeletal muscles OFFICIAL Anomalie des muscles squelettiques +HP:0040303 en fr rdfs:label label of HP:0040303 (Decreased serum iron) ; abnormality of metabolism/homeostasis Decreased serum iron OFFICIAL Decreased serum iron HP:0040311 en fr rdfs:label label of HP:0040311 (Symetrical distal arthritis) ; abnormality of the skeletal system Symetrical distal arthritis OFFICIAL Arthrite distale symétrique HP:0040314 en fr IAO:0000115 definition of HP:0040314 (Blind vagina) ; abnormality of the genitourinary system "Normally, the female reproductive canal is connected to the internal genitalia. ""Blind vagina"" denotes cases, where this canal ends in a sac" NOT_TRANSLATED "Normally, the female reproductive canal is connected to the internal genitalia. ""Blind vagina"" denotes cases, where this canal ends in a sac" HP:0040323 en fr rdfs:label label of HP:0040323 (Erythema of the eyelids) ; abnormality of the integument ; abnormality of head or neck ; abnormality of the cardiovascular system Erythema of the eyelids OFFICIAL Érythème des paupières @@ -1688,17 +1780,21 @@ HP:0045056 en fr rdfs:label label of HP:0045056 (Abnormal levels of alpha-fetopr HP:0045057 en fr rdfs:label label of HP:0045057 (Decreased levels of alpha-fetoprotein) ; abnormality of metabolism/homeostasis Decreased levels of alpha-fetoprotein OFFICIAL Diminution des taux d'alpha-foetoprotéine HP:0100007 en fr IAO:0000115 definition of HP:0100007 (Neoplasm of the peripheral nervous system) ; abnormality of the nervous system ; neoplasm A benign or malignant neoplasm (tumour) of the peripheral nervous system NOT_TRANSLATED A benign or malignant neoplasm (tumour) of the peripheral nervous system HP:0100016 en fr rdfs:label label of HP:0100016 (Abnormality of mesentery morphology) ; abnormality of the digestive system Abnormality of mesentery morphology OFFICIAL Anomalie morphologique du mésentère +HP:0100021 en fr IAO:0000115 definition of HP:0100021 (Cerebral palsy) ; abnormality of the nervous system Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems NOT_TRANSLATED Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems HP:0100023 en fr IAO:0000115 definition of HP:0100023 (Recurrent hand flapping) ; abnormality of the nervous system A type of stereotypic behavior in which the affected individual repeatedly waves the hands up and down NOT_TRANSLATED A type of stereotypic behavior in which the affected individual repeatedly waves the hands up and down HP:0100024 en fr IAO:0000115 definition of HP:0100024 (Conspicuously happy disposition) ; abnormality of the nervous system An unusually happy aspect over time which can also may be observed during inappropriate situations that should be causing for example distress, fear or anger NOT_TRANSLATED An unusually happy aspect over time which can also may be observed during inappropriate situations that should be causing for example distress, fear or anger HP:0100025 en fr IAO:0000115 definition of HP:0100025 (Overfriendliness) ; abnormality of the nervous system A form of hypersociability that presents as mostly inappropriate people-orientation and friendliness towards others on an inadequate level which might go as far as being dangerous considering for example young children following strangers without restriction NOT_TRANSLATED A form of hypersociability that presents as mostly inappropriate people-orientation and friendliness towards others on an inadequate level which might go as far as being dangerous considering for example young children following strangers without restriction HP:0100033 en fr IAO:0000115 definition of HP:0100033 (Tics) ; abnormality of the nervous system Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppresable and are usually associated with awareness of an urge to perform the movement NOT_TRANSLATED Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppresable and are usually associated with awareness of an urge to perform the movement HP:0100035 en fr IAO:0000115 definition of HP:0100035 (Phonic tics) ; abnormality of the nervous system Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound NOT_TRANSLATED Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound +HP:0100241 en fr IAO:0000115 definition of HP:0100241 (Ectopic respiratory mucosa) ; abnormality of limbs ; abnormality of the respiratory system Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations NOT_TRANSLATED Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations HP:0100251 en fr rdfs:label label of HP:0100251 (Lipomas of the central neryous system) ; abnormality of the nervous system ; neoplasm ; abnormality of connective tissue Lipomas of the central neryous system OFFICIAL Lipomes du système nerveux central HP:0100266 en fr IAO:0000115 definition of HP:0100266 (Synostosis of carpals/tarsals) ; abnormality of the skeletal system The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, navicular, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus NOT_TRANSLATED The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, navicular, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus +HP:0100274 en fr IAO:0000115 definition of HP:0100274 (Gustatory lacrimation) ; abnormality of the nervous system ; abnormality of the eye Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal NOT_TRANSLATED Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal HP:0100291 en fr rdfs:label label of HP:0100291 (Abnormality of central somatosensory evoked potentials) ; abnormality of the nervous system Abnormality of central somatosensory evoked potentials OFFICIAL Anomalie des potentiels évoqués somato-sensoriels centraux HP:0100293 en fr rdfs:label label of HP:0100293 (Muscle fiber hypertrophy) ; abnormality of the musculature Muscle fiber hypertrophy OFFICIAL Hypertrophie des fibres musculaires HP:0100320 en fr rdfs:label label of HP:0100320 (Rosenthal fibres) ; abnormality of the nervous system Rosenthal fibres OFFICIAL Fibres de rosenthal HP:0100321 en fr rdfs:label label of HP:0100321 (Abnormality of the dentate nucleus) ; abnormality of the nervous system Abnormality of the dentate nucleus OFFICIAL Anomalie du noyau dentelé +HP:0100326 en fr IAO:0000115 definition of HP:0100326 (Immunologic hypersensitivity) ; abnormality of the immune system Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens NOT_TRANSLATED Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens HP:0100335 en fr IAO:0000115 definition of HP:0100335 (Non-midline cleft lip) ; abnormality of head or neck Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region NOT_TRANSLATED Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region HP:0100335 en fr rdfs:label label of HP:0100335 (Non-midline cleft lip) ; abnormality of head or neck Non-midline cleft lip OFFICIAL Fente labiale non médiane HP:0100357 en fr IAO:0000115 definition of HP:0100357 (Contracture of the metatarsophalangeal joint of the 3rd toe) ; abnormality of limbs ; abnormality of the musculature ; abnormality of the skeletal system ; abnormality of connective tissue The joint between the second metatarsal and the proximal phalanx of the 3rd toe cannot be straightened actively or passively NOT_TRANSLATED The joint between the second metatarsal and the proximal phalanx of the 3rd toe cannot be straightened actively or passively @@ -1730,6 +1826,7 @@ HP:0100623 en fr rdfs:label label of HP:0100623 (Abnormality of corpus cavernosu HP:0100639 en fr rdfs:label label of HP:0100639 (Erectile abnormalities) ; abnormality of the genitourinary system Erectile abnormalities OFFICIAL Anomalies érectiles HP:0100659 en fr rdfs:label label of HP:0100659 (Abnormality of the cerebral vasculature) ; abnormality of the nervous system ; abnormality of the cardiovascular system Abnormality of the cerebral vasculature OFFICIAL Anomalie de la vascularisation cérébrale HP:0100670 en fr rdfs:label label of HP:0100670 (Rough bone trabeculation) ; abnormality of the skeletal system Rough bone trabeculation OFFICIAL Trabéculation grossière des os +HP:0100685 en fr IAO:0000115 definition of HP:0100685 (Abnormal Sharpey fiber morphology) ; abnormality of connective tissue An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone NOT_TRANSLATED An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone HP:0100694 en fr IAO:0000115 definition of HP:0100694 (Tibial torsion) ; abnormality of limbs ; abnormality of the skeletal system Tibial torsion is inward twisting (medial rotation) (PATO:0002155) of the tibia NOT_TRANSLATED Tibial torsion is inward twisting (medial rotation) (PATO:0002155) of the tibia HP:0100698 en fr IAO:0000115 definition of HP:0100698 (Subcutaneous neurofibromas) ; abnormality of the nervous system ; abnormality of the integument ; neoplasm The presence of Neurofibromas in the subcutis NOT_TRANSLATED The presence of Neurofibromas in the subcutis HP:0100698 en fr rdfs:label label of HP:0100698 (Subcutaneous neurofibromas) ; abnormality of the nervous system ; abnormality of the integument ; neoplasm Subcutaneous neurofibromas OFFICIAL Neurofibromes sous-cutanés @@ -1751,6 +1848,7 @@ HP:0100754 en fr IAO:0000115 definition of HP:0100754 (Mania) ; abnormality of HP:0100767 en fr rdfs:label label of HP:0100767 (Abnormality of the placenta) ; abnormality of prenatal development or birth Abnormality of the placenta OFFICIAL Anomalie du placenta HP:0100781 en fr IAO:0000115 definition of HP:0100781 (Abnormality of the sacroiliac joint) ; abnormality of the skeletal system An anomaly of the sacroiliac joint NOT_TRANSLATED An anomaly of the sacroiliac joint HP:0100781 en fr rdfs:label label of HP:0100781 (Abnormality of the sacroiliac joint) ; abnormality of the skeletal system Abnormality of the sacroiliac joint OFFICIAL Anomalie de l'articulation sacroiliaque +HP:0100832 en fr IAO:0000115 definition of HP:0100832 (Vitreous floaters) ; abnormality of the eye Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent NOT_TRANSLATED Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent HP:0100851 en fr IAO:0000115 definition of HP:0100851 (Abnormal emotion/affect behavior) ; abnormality of the nervous system An abnormality of emotional behaviour NOT_TRANSLATED An abnormality of emotional behaviour HP:0100851 en fr rdfs:label label of HP:0100851 (Abnormal emotion/affect behavior) ; abnormality of the nervous system Abnormal emotion/affect behavior OFFICIAL Comportement émotionnel/affectif anormal HP:0100852 en fr IAO:0000115 definition of HP:0100852 (Abnormal fear/anxiety-related behavior) ; abnormality of the nervous system An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response NOT_TRANSLATED An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response @@ -1761,6 +1859,7 @@ HP:0100950 en fr rdfs:label label of HP:0100950 (Decreased activity of 3-hydroxy HP:0100957 en fr IAO:0000115 definition of HP:0100957 (Abnormality of the renal medulla) ; abnormality of the genitourinary system An abnormality of the medulla of the kidney NOT_TRANSLATED An abnormality of the medulla of the kidney HP:0100957 en fr rdfs:label label of HP:0100957 (Abnormality of the renal medulla) ; abnormality of the genitourinary system Abnormality of the renal medulla OFFICIAL Anomalie de la médulla rénale HP:0100960 en fr rdfs:label label of HP:0100960 (Asymmetric ventricles) ; abnormality of the nervous system Asymmetric ventricles OFFICIAL Ventricules asymétriques +HP:0100962 en fr rdfs:label label of HP:0100962 (Shyness) ; abnormality of the nervous system Shyness OFFICIAL Timidité HP:0200000 en fr rdfs:label label of HP:0200000 (Dysharmonic bone age) ; abnormality of the skeletal system Dysharmonic bone age OFFICIAL Âge osseux dysharmonieux HP:0200095 en fr rdfs:label label of HP:0200095 (Anterior open bite) ; abnormality of head or neck Anterior open bite OFFICIAL Béance occlusale antérieure HP:0200119 en fr IAO:0000115 definition of HP:0200119 (Acute hepatitis) ; abnormality of the digestive system ; abnormality of the immune system Short-term infection iwith one of the five hepatitis viruses that causes inflammation of the liver NOT_TRANSLATED Short-term infection iwith one of the five hepatitis viruses that causes inflammation of the liver @@ -1801,7 +1900,6 @@ HP:0410173 en fr rdfs:label label of HP:0410173 (Increased troponin I level in b HP:0410174 en fr rdfs:label label of HP:0410174 (Increased troponin T level in blood) ; abnormality of the cardiovascular system Increased troponin T level in blood OFFICIAL Augmentation du taux de troponine T dans le sang HP:0410175 en fr IAO:0000115 definition of HP:0410175 (Hyperketonemia) ; abnormality of metabolism/homeostasis An increase in the level of ketone bodies in the blood NOT_TRANSLATED An increase in the level of ketone bodies in the blood HP:0410176 en fr rdfs:label label of HP:0410176 (Abnormal glucose-6-phosphate dehydrogenase level) ; abnormality of metabolism/homeostasis Abnormal glucose-6-phosphate dehydrogenase level OFFICIAL Taux anormal de glucose-6-phosphate déshydrogénase -HP:0410192 en fr IAO:0000115 definition of HP:0410192 (Abnormal uridine diphosphate glucose-4-epimerase activity) ; abnormality of metabolism/homeostasis An abnormality in uridine diphosphate glucose-4-epimerase activity, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose NOT_TRANSLATED An abnormality in uridine diphosphate glucose-4-epimerase activity, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose HP:0410192 en fr rdfs:label label of HP:0410192 (Abnormal uridine diphosphate glucose-4-epimerase activity) ; abnormality of metabolism/homeostasis Abnormal uridine diphosphate glucose-4-epimerase activity OFFICIAL Activité anormale de l'uridine diphosphate glucose-4-épimérase HP:0410193 en fr IAO:0000115 definition of HP:0410193 (Abnormal uridine diphosphate glucose-4-epimerase activity in plasma) ; abnormality of metabolism/homeostasis An abnormality in uridine diphosphate glucose-4-epimerase activity in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose NOT_TRANSLATED An abnormality in uridine diphosphate glucose-4-epimerase activity in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose HP:0410193 en fr rdfs:label label of HP:0410193 (Abnormal uridine diphosphate glucose-4-epimerase activity in plasma) ; abnormality of metabolism/homeostasis Abnormal uridine diphosphate glucose-4-epimerase activity in plasma OFFICIAL Activité anormale de l'uridine diphosphate glucose-4-épimérase dans le plasma @@ -1844,8 +1942,11 @@ HP:0500012 en fr IAO:0000115 definition of HP:0500012 (Abnormality of gonadotrop HP:0500012 en fr rdfs:label label of HP:0500012 (Abnormality of gonadotropin-releasing hormone level) ; abnormality of the endocrine system Abnormality of gonadotropin-releasing hormone level OFFICIAL Anomalie du taux de GnRH (gonadotropin-releasing hormone) HP:0500022 en fr rdfs:label label of HP:0500022 (Abnormal serum dehydroepiandrosterone level) ; abnormality of the endocrine system Abnormal serum dehydroepiandrosterone level OFFICIAL Anomalie du taux plasmatique de dehydroepiandrosterone HP:0500046 en fr IAO:0000115 definition of HP:0500046 (Seborrhoeic blepharitis) ; abnormality of head or neck ; abnormality of the immune system ; abnormality of the eye Inflamation of the eyelid due to overactivity of the sebaceous gland NOT_TRANSLATED Inflamation of the eyelid due to overactivity of the sebaceous gland +HP:0500070 en fr IAO:0000115 definition of HP:0500070 (Conjunctival dermolipoma) ; abnormality of head or neck A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus NOT_TRANSLATED A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus HP:0500076 en fr rdfs:label label of HP:0500076 (Alternating hypetropia) ; abnormality of the eye Alternating hypetropia OFFICIAL Hypertropie en alternance +HP:0500086 en fr IAO:0000115 definition of HP:0500086 (Optic nerve gray crescent) ; abnormality of the eye Having a characteristic appearance of a slate gray area of pigmentation within the disc margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas NOT_TRANSLATED Having a characteristic appearance of a slate gray area of pigmentation within the disc margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas HP:0500089 en fr IAO:0000115 definition of HP:0500089 (Optic nerve sheath meningioma) ; abnormality of the nervous system ; neoplasm A benign tumour of meningothelial cells of the meninges that usually occurs in middle age. It is typically unilateral and there is an association with neurofibromatosis type 2 NOT_TRANSLATED A benign tumour of meningothelial cells of the meninges that usually occurs in middle age. It is typically unilateral and there is an association with neurofibromatosis type 2 +HP:0500091 en fr IAO:0000115 definition of HP:0500091 (Lymphangioma of the orbit) ; abnormality of head or neck ; neoplasm ; abnormality of the immune system A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva manoeuvre. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to haemorrhage NOT_TRANSLATED A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva manoeuvre. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to haemorrhage HP:0500092 en fr IAO:0000115 definition of HP:0500092 (Orbital rhabdomyosarcoma) ; abnormality of the musculature ; neoplasm A mesenchymal tumour that is considered to be the commonest primary orbital malignancy in children. Histologically, it may be differentiated into embryonal, alveolar, and pleomorphic types. It is usually intraconal or within the superior orbit NOT_TRANSLATED A mesenchymal tumour that is considered to be the commonest primary orbital malignancy in children. Histologically, it may be differentiated into embryonal, alveolar, and pleomorphic types. It is usually intraconal or within the superior orbit HP:0500093 en fr rdfs:label label of HP:0500093 (IgE-mediated food allergy) ; abnormality of the immune system IgE-mediated food allergy OFFICIAL Allergie alimentaire médiée par les IgE HP:0500149 en fr IAO:0000115 definition of HP:0500149 (Hyperglutamatemia) ; abnormality of metabolism/homeostasis An increased amount of glutamate in the blood NOT_TRANSLATED An increased amount of glutamate in the blood @@ -1855,6 +1956,8 @@ HP:0500161 en fr IAO:0000115 definition of HP:0500161 (Increased level of carnos HP:0500161 en fr rdfs:label label of HP:0500161 (Increased level of carnosine in blood) ; abnormality of metabolism/homeostasis Increased level of carnosine in blood OFFICIAL Augmentation de la concentration plasmatique de carnosine HP:0500162 en fr rdfs:label label of HP:0500162 (Decreased level of carnosine in blood) ; abnormality of metabolism/homeostasis Decreased level of carnosine in blood OFFICIAL Diminution de la concentration plasmatique de carnosine HP:0500166 en fr rdfs:label label of HP:0500166 (Abnormal circulating gastrin level) ; abnormality of the endocrine system Abnormal circulating gastrin level OFFICIAL Concentration plasmatique de gastrine anormale +HP:3000004 en fr IAO:0000115 definition of HP:3000004 (Abnormality of frontalis muscle belly) ; abnormality of the musculature ; abnormality of head or neck An abnormality of a frontalis muscle belly NOT_TRANSLATED An abnormality of a frontalis muscle belly +HP:3000004 en fr rdfs:label label of HP:3000004 (Abnormality of frontalis muscle belly) ; abnormality of the musculature ; abnormality of head or neck Abnormality of frontalis muscle belly OFFICIAL Anomalie du corps du muscle frontal HP:3000013 en fr rdfs:label label of HP:3000013 (Abnormality of platysma) ; abnormality of the musculature ; abnormality of the integument ; abnormality of head or neck Abnormality of platysma OFFICIAL Anomalie du platysma HP:3000019 en fr rdfs:label label of HP:3000019 (Abnormality of buccal mucosa) ; abnormality of head or neck Abnormality of buccal mucosa OFFICIAL Anomalie de la muqueuse buccale HP:3000021 en fr rdfs:label label of HP:3000021 (Abnormality of buccal fat pad) ; abnormality of head or neck Abnormality of buccal fat pad OFFICIAL Anomalie du coussinet adipeux buccal diff --git a/src/translations/hp-fr-not-translated.babelon.tsv b/src/translations/hp-fr-not-translated.babelon.tsv index cdeacfbb7..068a0e22d 100644 --- a/src/translations/hp-fr-not-translated.babelon.tsv +++ b/src/translations/hp-fr-not-translated.babelon.tsv @@ -1261,7 +1261,6 @@ HP:0002740 en fr IAO:0000115 definition of HP:0002740 (Recurrent E. coli infecti HP:0002741 en fr IAO:0000115 definition of HP:0002741 (Recurrent Serratia marcescens infections) ; abnormality of the immune system Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection NOT_TRANSLATED Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection HP:0002742 en fr IAO:0000115 definition of HP:0002742 (Recurrent Klebsiella infections) ; abnormality of the immune system Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection NOT_TRANSLATED Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection HP:0002743 en fr IAO:0000115 definition of HP:0002743 (Recurrent enteroviral infections) ; abnormality of the immune system Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection NOT_TRANSLATED Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection -HP:0002744 en fr IAO:0000115 definition of HP:0002744 (Bilateral cleft lip and palate) ; abnormality of head or neck Cleft lip and cleft palate affecting both sides of the face NOT_TRANSLATED Cleft lip and cleft palate affecting both sides of the face HP:0002745 en fr IAO:0000115 definition of HP:0002745 (Oral leukoplakia) ; abnormality of head or neck A thickened white patch on the oral mucosa that cannot be rubbed off NOT_TRANSLATED A thickened white patch on the oral mucosa that cannot be rubbed off HP:0002748 en fr IAO:0000115 definition of HP:0002748 (Rickets) ; abnormality of the skeletal system A condition that causes soft, weak bones. It is often attributed to a lack of vitamin D, which helps bones absorb important nutrients NOT_TRANSLATED A condition that causes soft, weak bones. It is often attributed to a lack of vitamin D, which helps bones absorb important nutrients HP:0002749 en fr IAO:0000115 definition of HP:0002749 (Osteomalacia) ; abnormality of the skeletal system Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets NOT_TRANSLATED Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets @@ -3440,7 +3439,6 @@ HP:0008489 en fr IAO:0000115 definition of HP:0008489 (Spondylolisthesis at L5-S HP:0008491 en fr IAO:0000115 definition of HP:0008491 (Premature anterior fontanel closure) ; abnormality of head or neck ; abnormality of the skeletal system Early closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life NOT_TRANSLATED Early closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life HP:0008494 en fr IAO:0000115 definition of HP:0008494 (Inferior lens subluxation) ; abnormality of the eye Partial displacement of the lens in the inferior direction NOT_TRANSLATED Partial displacement of the lens in the inferior direction HP:0008499 en fr IAO:0000115 definition of HP:0008499 (High hypermetropia) ; abnormality of the eye A severe form of hypermetropia with over +5.00 diopters NOT_TRANSLATED A severe form of hypermetropia with over +5.00 diopters -HP:0008501 en fr IAO:0000115 definition of HP:0008501 (Median cleft lip and palate) ; abnormality of head or neck Cleft lip or palate affecting the midline region of the palate NOT_TRANSLATED Cleft lip or palate affecting the midline region of the palate HP:0008504 en fr IAO:0000115 definition of HP:0008504 (Moderate sensorineural hearing impairment) ; abnormality of the ear The presence of a moderate form of sensorineural hearing impairment NOT_TRANSLATED The presence of a moderate form of sensorineural hearing impairment HP:0008511 en fr IAO:0000115 definition of HP:0008511 (Central posterior corneal opacity) ; abnormality of the eye Reduced transparency of the central posterior portion of the corneal stroma NOT_TRANSLATED Reduced transparency of the central posterior portion of the corneal stroma HP:0008513 en fr IAO:0000115 definition of HP:0008513 (Bilateral conductive hearing impairment) ; abnormality of the ear A bilateral type of conductive hearing impairment NOT_TRANSLATED A bilateral type of conductive hearing impairment @@ -4023,7 +4021,6 @@ HP:0009591 en fr IAO:0000115 definition of HP:0009591 (Abnormality of the vestib HP:0009592 en fr IAO:0000115 definition of HP:0009592 (Astrocytoma) ; abnormality of the nervous system ; neoplasm Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma NOT_TRANSLATED Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma HP:0009593 en fr IAO:0000115 definition of HP:0009593 (Peripheral Schwannoma) ; abnormality of the nervous system ; abnormality of the integument ; neoplasm The presence of a peripheral schwannoma NOT_TRANSLATED The presence of a peripheral schwannoma HP:0009594 en fr IAO:0000115 definition of HP:0009594 (Retinal hamartoma) ; abnormality of head or neck ; neoplasm ; abnormality of the eye A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina NOT_TRANSLATED A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina -HP:0009595 en fr IAO:0000115 definition of HP:0009595 (Occasional neurofibromas) ; abnormality of the nervous system ; abnormality of the integument ; neoplasm Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1 NOT_TRANSLATED Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1 HP:0009596 en fr IAO:0000115 definition of HP:0009596 (Aplasia of the proximal phalanx of the 2nd finger) ; abnormality of limbs ; abnormality of the skeletal system Absence of the proximal phalanx of the 2nd finger NOT_TRANSLATED Absence of the proximal phalanx of the 2nd finger HP:0009597 en fr IAO:0000115 definition of HP:0009597 (Short proximal phalanx of the 2nd finger) ; abnormality of limbs ; abnormality of the skeletal system Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger NOT_TRANSLATED Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger HP:0009598 en fr IAO:0000115 definition of HP:0009598 (Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal) ; abnormality of limbs ; abnormality of the skeletal system Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal NOT_TRANSLATED Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal @@ -6907,7 +6904,6 @@ HP:0020059 en fr IAO:0000115 definition of HP:0020059 (Increased red blood cell HP:0020060 en fr IAO:0000115 definition of HP:0020060 (Decreased red blood cell count) ; abnormality of blood and blood-forming tissues An abnormal reduction below the normal number of red blood cells per volume in the circulation NOT_TRANSLATED An abnormal reduction below the normal number of red blood cells per volume in the circulation HP:0020061 en fr IAO:0000115 definition of HP:0020061 (Abnormal hemoglobin concentration) ; abnormality of blood and blood-forming tissues Any deviation from the normal concentration of hemoglobin in the blood NOT_TRANSLATED Any deviation from the normal concentration of hemoglobin in the blood HP:0020062 en fr IAO:0000115 definition of HP:0020062 (Decreased hemoglobin concentration) ; abnormality of blood and blood-forming tissues An abnormal reduction below normal hemoglobin concentration in the circulation NOT_TRANSLATED An abnormal reduction below normal hemoglobin concentration in the circulation -HP:0020063 en fr IAO:0000115 definition of HP:0020063 (Increased hemoglobin concentration) ; abnormality of blood and blood-forming tissues An abnormal elevation above normal hemoglobin concentration in the circulation NOT_TRANSLATED An abnormal elevation above normal hemoglobin concentration in the circulation HP:0020064 en fr IAO:0000115 definition of HP:0020064 (Abnormal eosinophil count) ; abnormality of the immune system ; abnormality of blood and blood-forming tissues Any deviation from the normal number of eosinophils per volume in the blood circulation NOT_TRANSLATED Any deviation from the normal number of eosinophils per volume in the blood circulation HP:0020071 en fr IAO:0000115 definition of HP:0020071 (Viremia) ; abnormality of metabolism/homeostasis The presence of virus in the blood NOT_TRANSLATED The presence of virus in the blood HP:0020072 en fr IAO:0000115 definition of HP:0020072 (Persistent EBV viremia) ; abnormality of metabolism/homeostasis ; abnormality of the immune system Persistent presence of Epstein-Barr virus in the blood NOT_TRANSLATED Persistent presence of Epstein-Barr virus in the blood @@ -7004,7 +7000,7 @@ HP:0020171 en fr rdfs:label Decreased blood drug concentration NOT_TRANSLATED HP:0020172 en fr rdfs:label Adverse drug response NOT_TRANSLATED HP:0020173 en fr rdfs:label Reduced drug efficacy NOT_TRANSLATED HP:0020174 en fr rdfs:label Refractory drug response NOT_TRANSLATED -HP:0020175 en fr rdfs:label Reduced cholinesterase level NOT_TRANSLATED +HP:0020175 en fr rdfs:label Reduced circulating cholinesterase activity NOT_TRANSLATED HP:0020176 en fr rdfs:label Cholesterol crystalluria NOT_TRANSLATED HP:0020177 en fr rdfs:label Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells NOT_TRANSLATED HP:0020178 en fr rdfs:label Abnormal dendritic cell count NOT_TRANSLATED @@ -7031,7 +7027,7 @@ HP:0020198 en fr rdfs:label Abnormal circulating 18-hydroxycorticosterone level HP:0020199 en fr rdfs:label Decreased circulating 18-hydroxycortisone level NOT_TRANSLATED HP:0020200 en fr rdfs:label Increased circulating 18-hydroxycortisone level NOT_TRANSLATED HP:0020201 en fr rdfs:label Abnormal sarcomere morphology NOT_TRANSLATED -HP:0020202 en fr rdfs:label Abnormal Z disc morphology NOT_TRANSLATED +HP:0020202 en fr rdfs:label Abnormal Z disk morphology NOT_TRANSLATED HP:0020203 en fr rdfs:label Z-band streaming NOT_TRANSLATED HP:0020204 en fr rdfs:label Tubulointerstitial bacterial infiltration NOT_TRANSLATED HP:0020205 en fr rdfs:label Tubulointerstitial fungal infiltration NOT_TRANSLATED @@ -8106,7 +8102,6 @@ HP:0030350 en fr IAO:0000115 definition of HP:0030350 (Erythematous papule) ; a HP:0030351 en fr IAO:0000115 definition of HP:0030351 (Urticarial plaque) ; abnormality of the integument A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter NOT_TRANSLATED A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter HP:0030352 en fr IAO:0000115 definition of HP:0030352 (Abnormal serum insulin-like growth factor 1 level) ; abnormality of the endocrine system An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation NOT_TRANSLATED An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation HP:0030353 en fr IAO:0000115 definition of HP:0030353 (Decreased serum insulin-like growth factor 1) ; abnormality of the endocrine system A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation NOT_TRANSLATED A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation -HP:0030354 en fr IAO:0000115 definition of HP:0030354 (Abnormal serum interferon level) ; abnormality of the immune system Abnormal levels of interferon in the blood NOT_TRANSLATED Abnormal levels of interferon in the blood HP:0030355 en fr IAO:0000115 definition of HP:0030355 (Abnormal serum interferon-gamma level) ; abnormality of the immune system Abnormal levels of interferon gamma measured in the blood circulation NOT_TRANSLATED Abnormal levels of interferon gamma measured in the blood circulation HP:0030356 en fr IAO:0000115 definition of HP:0030356 (Increased serum interferon-gamma level) ; abnormality of the immune system An elevation in the concentration of interferon gamma measured in the blood circulation NOT_TRANSLATED An elevation in the concentration of interferon gamma measured in the blood circulation HP:0030357 en fr IAO:0000115 definition of HP:0030357 (Small cell lung carcinoma) ; abnormality of the respiratory system ; neoplasm Small cell lung cancer (SCLC) is a type of highly malignant lung cancer that is composed of small ovoid cells. In the past, SCLC was called oat cell carcinoma because the microscopic appearance of the cells was felt to resemble oats. SLCLC usually originates near the bronchi and in many cases may grow and metastasize quickly NOT_TRANSLATED Small cell lung cancer (SCLC) is a type of highly malignant lung cancer that is composed of small ovoid cells. In the past, SCLC was called oat cell carcinoma because the microscopic appearance of the cells was felt to resemble oats. SLCLC usually originates near the bronchi and in many cases may grow and metastasize quickly @@ -8338,7 +8333,6 @@ HP:0030778 en fr IAO:0000115 definition of HP:0030778 (Modic type III vertebral HP:0030779 en fr IAO:0000115 definition of HP:0030779 (Ethmocephaly) ; abnormality of the nervous system Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears NOT_TRANSLATED Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears HP:0030780 en fr IAO:0000115 definition of HP:0030780 (Abnormality of the protein C anticoagulant pathway) ; abnormality of blood and blood-forming tissues An anomaly of the protein C anticoagulant pathway, which serves as a major system for controlling thrombosis, limiting inflammatory responses, and potentially decreasing endothelial cell apoptosis in response to inflammatory cytokines and ischemia. A natural anticoagulant system denoted the protein C pathway exerts its anticoagulant effect by regulating the activity of FVIIIa and FVa. The vitamin K-dependent protein C is the key component of the pathway. Activated protein C (APC) cleaves and inhibits coagulation cofactors FVIIIa and FVa, which result in downregulation of the activity of the coagulation system. The endothelial protein C receptor stimulates the T-TM-mediated activation of protein C on the endothelial cell surface. The two cofactors, protein S and the intact form of FV, enhance the anticoagulant activity of APC NOT_TRANSLATED An anomaly of the protein C anticoagulant pathway, which serves as a major system for controlling thrombosis, limiting inflammatory responses, and potentially decreasing endothelial cell apoptosis in response to inflammatory cytokines and ischemia. A natural anticoagulant system denoted the protein C pathway exerts its anticoagulant effect by regulating the activity of FVIIIa and FVa. The vitamin K-dependent protein C is the key component of the pathway. Activated protein C (APC) cleaves and inhibits coagulation cofactors FVIIIa and FVa, which result in downregulation of the activity of the coagulation system. The endothelial protein C receptor stimulates the T-TM-mediated activation of protein C on the endothelial cell surface. The two cofactors, protein S and the intact form of FV, enhance the anticoagulant activity of APC HP:0030781 en fr IAO:0000115 definition of HP:0030781 (Increased circulating free fatty acid level) ; abnormality of metabolism/homeostasis A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues NOT_TRANSLATED A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues -HP:0030782 en fr IAO:0000115 definition of HP:0030782 (Abnormal serum interleukin level) ; abnormality of the immune system An abnormal amount of any of the interleukins, a class of cytokines, in the circulation NOT_TRANSLATED An abnormal amount of any of the interleukins, a class of cytokines, in the circulation HP:0030783 en fr IAO:0000115 definition of HP:0030783 (Increased serum interleukin-6) ; abnormality of the immune system An increased concentration of interleukin-6 in the circulation NOT_TRANSLATED An increased concentration of interleukin-6 in the circulation HP:0030784 en fr IAO:0000115 definition of HP:0030784 (Anomia) ; abnormality of the nervous system An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name NOT_TRANSLATED An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name HP:0030785 en fr IAO:0000115 definition of HP:0030785 (Mediastinal cystic lymphangioma) ; neoplasm ; abnormality of the immune system A lymphangioma (congenital malformation consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures) located within the mediastinum, i.e., the central compartment of the thoracic cavity that is surrounded by loose connective tissue. Mediastinal lymphangioma is a slow growing mass with benign features, and accounts for 1% of all mediastinal tumors NOT_TRANSLATED A lymphangioma (congenital malformation consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures) located within the mediastinum, i.e., the central compartment of the thoracic cavity that is surrounded by loose connective tissue. Mediastinal lymphangioma is a slow growing mass with benign features, and accounts for 1% of all mediastinal tumors @@ -9703,7 +9697,6 @@ HP:0032267 en fr IAO:0000115 definition of HP:0032267 (Empty delta sign) ; abno HP:0032268 en fr IAO:0000115 definition of HP:0032268 (Dural tail sign) ; abnormality of the nervous system This sign represents thickening and enhancement of the dura mater in continuity with a mass, which on MR images, gives the appearance of a tail arising from the mass. The dural tail is thought to represent reactive change; however, it may also be due to tumor invasion. Three criteria need to be met for a positive dural tail sign: the tail should be seen on two successive images through the tumor, it should taper away from the tumor, and it must enhance more than the tumor NOT_TRANSLATED This sign represents thickening and enhancement of the dura mater in continuity with a mass, which on MR images, gives the appearance of a tail arising from the mass. The dural tail is thought to represent reactive change; however, it may also be due to tumor invasion. Three criteria need to be met for a positive dural tail sign: the tail should be seen on two successive images through the tumor, it should taper away from the tumor, and it must enhance more than the tumor HP:0032270 en fr IAO:0000115 definition of HP:0032270 (Optic nerve tram-track sign) ; abnormality of the eye A tram-track sign is composed of two enhancing areas of tumor separated from each other by the negative defect of the optic nerve. It is seen on contrast-enhanced CT scan and MRI images, in optic nerve sheath meningioma. The sign helps distinguish between optic nerve sheath meningioma and optic glioma. Optic glioma arises from glial cells within the optic nerve and there is no clear separation between the nerve and the tumor; hence the tram-track sign is not seen in optic gliomas. Calcification may be seen in optic nerve sheath meningiomas in 20-50% of cases and hence the tram-track sign may be seen on nonenhanced CT scan images as a linear calcification around the nerve, but this is less common NOT_TRANSLATED A tram-track sign is composed of two enhancing areas of tumor separated from each other by the negative defect of the optic nerve. It is seen on contrast-enhanced CT scan and MRI images, in optic nerve sheath meningioma. The sign helps distinguish between optic nerve sheath meningioma and optic glioma. Optic glioma arises from glial cells within the optic nerve and there is no clear separation between the nerve and the tumor; hence the tram-track sign is not seen in optic gliomas. Calcification may be seen in optic nerve sheath meningiomas in 20-50% of cases and hence the tram-track sign may be seen on nonenhanced CT scan images as a linear calcification around the nerve, but this is less common HP:0032271 en fr IAO:0000115 definition of HP:0032271 (Extrapulmonary tuberculosis) ; abnormality of the immune system A type of tubercular infection located outside of the lung, which is the most common location of tuberculosis. There are two types of clinical manifestation of tuberculosis (TB) are pulmonary TB (PTB) and extrapulmonary TB (EPTB). The former is most common. EPTB refers to TB involving organs other than the lungs (e.g., pleura, lymph nodes, abdomen, genitourinary tract, skin, joints and bones, or meninges). A patient with both pulmonary and EPTB is classified as a case of PTB NOT_TRANSLATED A type of tubercular infection located outside of the lung, which is the most common location of tuberculosis. There are two types of clinical manifestation of tuberculosis (TB) are pulmonary TB (PTB) and extrapulmonary TB (EPTB). The former is most common. EPTB refers to TB involving organs other than the lungs (e.g., pleura, lymph nodes, abdomen, genitourinary tract, skin, joints and bones, or meninges). A patient with both pulmonary and EPTB is classified as a case of PTB -HP:0032272 en fr IAO:0000115 definition of HP:0032272 (Elevated urinary N-acetylaspartic acid level) ; abnormality of metabolism/homeostasis ; abnormality of the genitourinary system Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry NOT_TRANSLATED Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry HP:0032273 en fr IAO:0000115 definition of HP:0032273 (Increased circulating N-Acetylaspartic acid concentration) ; abnormality of metabolism/homeostasis An abnormally increased concentration of N-Acetylaspartic acid in the blood circulation NOT_TRANSLATED An abnormally increased concentration of N-Acetylaspartic acid in the blood circulation HP:0032274 en fr IAO:0000115 definition of HP:0032274 (Increased CSF N-Acetylaspartic acid concentration) ; abnormality of metabolism/homeostasis An abnormally increased concentration of N-Acetylaspartic acid in the cerebrospinal fluid (CSF) NOT_TRANSLATED An abnormally increased concentration of N-Acetylaspartic acid in the cerebrospinal fluid (CSF) HP:0032275 en fr IAO:0000115 definition of HP:0032275 (Recurrent shingles) ; abnormality of the immune system Repeated episodes of a localized, painful cutaneous eruption related to reactivation of varicella zoster virus (VZV) and characterized by a characteristic rash in one or two adjacent dermatomes NOT_TRANSLATED Repeated episodes of a localized, painful cutaneous eruption related to reactivation of varicella zoster virus (VZV) and characterized by a characteristic rash in one or two adjacent dermatomes @@ -9944,7 +9937,7 @@ HP:0032525 en fr rdfs:label Exacerbated by acetylcholinesterase inhibitor expos HP:0032526 en fr rdfs:label Ameliorated by acetylcholinesterase inhibitor NOT_TRANSLATED HP:0032527 en fr rdfs:label Inferiorly positioned umbilicus NOT_TRANSLATED HP:0032528 en fr rdfs:label Elevated urinary 4-hydroxybutyric acid NOT_TRANSLATED -HP:0032530 en fr rdfs:label Decreased succinic semialdehyde dehydrogenase level NOT_TRANSLATED +HP:0032530 en fr rdfs:label Decreased tissue succinic semialdehyde dehydrogenase activity NOT_TRANSLATED HP:0032531 en fr rdfs:label Elevated CSF gamma-aminobutyric acid concentration NOT_TRANSLATED HP:0032532 en fr rdfs:label Elevated CSF 4-hydroxybutyric acid concentration NOT_TRANSLATED HP:0032533 en fr rdfs:label Elevated circulating acetone concentration NOT_TRANSLATED @@ -12385,7 +12378,7 @@ HP:0034990 en fr rdfs:label Shoulder abduction contracture NOT_TRANSLATED HP:0034991 en fr rdfs:label Shoulder external rotation contracture NOT_TRANSLATED HP:0034992 en fr rdfs:label Thumb adduction contracture NOT_TRANSLATED HP:0034993 en fr rdfs:label Hip internal rotation contracture NOT_TRANSLATED -HP:0034995 en fr rdfs:label Reduced hepatic fructose-1,6-bisphosphatase activity NOT_TRANSLATED +HP:0034995 en fr rdfs:label Reduced tissue fructose-1,6-bisphosphatase activity NOT_TRANSLATED HP:0034996 en fr rdfs:label Reduced hepatic carbamoylphosphate synthetase 1 activity NOT_TRANSLATED HP:0034997 en fr rdfs:label Reduced intraepidermal small nerve fiber density NOT_TRANSLATED HP:0034998 en fr rdfs:label Femoral artery duplication NOT_TRANSLATED @@ -13452,7 +13445,6 @@ HP:0410188 en fr IAO:0000115 definition of HP:0410188 (Decreased glucose-6-phosp HP:0410189 en fr IAO:0000115 definition of HP:0410189 (Increased glucose-6-phosphate dehydrogenase level in red blood cells) ; abnormality of metabolism/homeostasis An increase in the level of glucose-6-phosphate dehydrogenase in red blood cells NOT_TRANSLATED An increase in the level of glucose-6-phosphate dehydrogenase in red blood cells HP:0410190 en fr IAO:0000115 definition of HP:0410190 (Decreased glucose-6-phosphate dehydrogenase level in leukocytes) ; abnormality of metabolism/homeostasis A decrease in the level of glucose-6-phosphate dehydrogenase in leukocytes NOT_TRANSLATED A decrease in the level of glucose-6-phosphate dehydrogenase in leukocytes HP:0410191 en fr IAO:0000115 definition of HP:0410191 (Increased glucose-6-phosphate dehydrogenase level in leukocytes) ; abnormality of metabolism/homeostasis An increase in the level of glucose-6-phosphate dehydrogenase in leukocytes NOT_TRANSLATED An increase in the level of glucose-6-phosphate dehydrogenase in leukocytes -HP:0410192 en fr IAO:0000115 definition of HP:0410192 (Abnormal uridine diphosphate glucose-4-epimerase activity) ; abnormality of metabolism/homeostasis An abnormality in uridine diphosphate glucose-4-epimerase activity, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose NOT_TRANSLATED An abnormality in uridine diphosphate glucose-4-epimerase activity, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose HP:0410193 en fr IAO:0000115 definition of HP:0410193 (Abnormal uridine diphosphate glucose-4-epimerase activity in plasma) ; abnormality of metabolism/homeostasis An abnormality in uridine diphosphate glucose-4-epimerase activity in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose NOT_TRANSLATED An abnormality in uridine diphosphate glucose-4-epimerase activity in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose HP:0410194 en fr IAO:0000115 definition of HP:0410194 (Increased uridine diphosphate glucose-4-epimerase activity in plasma) ; abnormality of metabolism/homeostasis An increase in uridine diphosphate glucose-4-epimerase activity in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose NOT_TRANSLATED An increase in uridine diphosphate glucose-4-epimerase activity in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose HP:0410195 en fr IAO:0000115 definition of HP:0410195 (Decreased uridine diphosphate glucose-4-epimerase activity in plasma) ; abnormality of metabolism/homeostasis A decrease in uridine diphosphate glucose-4-epimerase activity in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose NOT_TRANSLATED A decrease in uridine diphosphate glucose-4-epimerase activity in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose @@ -13788,6 +13780,14 @@ HP:0430139 en fr rdfs:label Positive CSF pathogen-specific antibody positivity HP:0430140 en fr rdfs:label Positive CSF nucleic acid pathogen test NOT_TRANSLATED HP:0430141 en fr rdfs:label Positive CSF varicella zoster antibody positivity NOT_TRANSLATED HP:0430142 en fr rdfs:label Reduced circulating interleukin 6 concentration NOT_TRANSLATED +HP:0430143 en fr rdfs:label Elevated circulating C12 acylcarnitine concentration NOT_TRANSLATED +HP:0430144 en fr rdfs:label Frontalis muscle overactivity NOT_TRANSLATED +HP:0430145 en fr rdfs:label Nasal dermoid cyst NOT_TRANSLATED +HP:0430146 en fr rdfs:label Elevated circulating complement C3 concentration NOT_TRANSLATED +HP:0430147 en fr rdfs:label Abnormal circulating inhibin B concentration NOT_TRANSLATED +HP:0430148 en fr rdfs:label Abnormal circulating lipoprotein(a) concentration NOT_TRANSLATED +HP:0430150 en fr rdfs:label Positive blood infectious agent test NOT_TRANSLATED +HP:0430151 en fr rdfs:label Positive respiratory tract infectious agent test NOT_TRANSLATED HP:0500001 en fr IAO:0000115 definition of HP:0500001 (Body odor) ; constitutional symptom A perceived unpleasant smell given off by the body NOT_TRANSLATED A perceived unpleasant smell given off by the body HP:0500005 en fr IAO:0000115 definition of HP:0500005 (Anal pain) ; constitutional symptom Pain in and around the anus or rectum (perianal region) NOT_TRANSLATED Pain in and around the anus or rectum (perianal region) HP:0500006 en fr IAO:0000115 definition of HP:0500006 (Urethritis) ; abnormality of the genitourinary system Inflammation of the urethra NOT_TRANSLATED Inflammation of the urethra @@ -14122,7 +14122,7 @@ HP:4000023 en fr rdfs:label Anti-laminin gamma1 antibody positivity NOT_TRANSLA HP:4000024 en fr rdfs:label Anti-laminin antibody positivity NOT_TRANSLATED HP:4000025 en fr rdfs:label Anti-integrin antibody positivity NOT_TRANSLATED HP:4000026 en fr rdfs:label Anti-transglutaminase 6 antibody NOT_TRANSLATED -HP:4000027 en fr rdfs:label anti-LAD-1 antibody positivity NOT_TRANSLATED +HP:4000027 en fr rdfs:label Anti-LAD-1 antibody positivity NOT_TRANSLATED HP:4000028 en fr rdfs:label Anti-LABD97 antibody positivity NOT_TRANSLATED HP:4000029 en fr rdfs:label Antigliadin antibody positivity NOT_TRANSLATED HP:4000030 en fr rdfs:label Anti-reticulin antibody positivity NOT_TRANSLATED @@ -14355,9 +14355,9 @@ HP:5200013 en fr rdfs:label Ambiguous facial expression NOT_TRANSLATED HP:5200014 en fr rdfs:label Exaggerated facial expression NOT_TRANSLATED HP:5200015 en fr rdfs:label Muted facial expression NOT_TRANSLATED HP:5200016 en fr rdfs:label Abnormal peer relationships NOT_TRANSLATED -HP:5200017 en fr rdfs:label Abnormal movements of face and head NOT_TRANSLATED -HP:5200018 en fr rdfs:label Abnormal movements of the upper extremities NOT_TRANSLATED -HP:5200019 en fr rdfs:label Abnormal movements of the whole body NOT_TRANSLATED +HP:5200017 en fr rdfs:label Steroetypic movements of face and head NOT_TRANSLATED +HP:5200018 en fr rdfs:label Steroetypic upper-extremity movements NOT_TRANSLATED +HP:5200019 en fr rdfs:label Stereotypic whole-body movements NOT_TRANSLATED HP:5200020 en fr rdfs:label Abnormal interest in others NOT_TRANSLATED HP:5200021 en fr rdfs:label Reduced social insight NOT_TRANSLATED HP:5200022 en fr rdfs:label Reduced awareness of convention NOT_TRANSLATED @@ -14369,7 +14369,7 @@ HP:5200029 en fr rdfs:label Social disinhibition NOT_TRANSLATED HP:5200030 en fr rdfs:label Diminished integration of verbal and non-verbal communicative behavior NOT_TRANSLATED HP:5200035 en fr rdfs:label Reduced cooperative imaginative play NOT_TRANSLATED HP:5200036 en fr rdfs:label Reduced responsiveness to verbal cues NOT_TRANSLATED -HP:5200037 en fr rdfs:label Lack of expressed empath NOT_TRANSLATED +HP:5200037 en fr rdfs:label Lack of expressed empathy NOT_TRANSLATED HP:5200038 en fr rdfs:label Bradylalia NOT_TRANSLATED HP:5200039 en fr rdfs:label Excessively loud speech NOT_TRANSLATED HP:5200040 en fr rdfs:label Excessively quiet voice NOT_TRANSLATED @@ -14459,7 +14459,7 @@ HP:5200231 en fr rdfs:label Hypervigilance NOT_TRANSLATED HP:5200232 en fr rdfs:label Phobia NOT_TRANSLATED HP:5200233 en fr rdfs:label Anticipatory anxiety NOT_TRANSLATED HP:5200234 en fr rdfs:label Flight of ideas NOT_TRANSLATED -HP:5200235 en fr rdfs:label Thought disorder NOT_TRANSLATED +HP:5200235 en fr rdfs:label Disorganized speech or communication NOT_TRANSLATED HP:5200237 en fr rdfs:label Pronunciation difficulties NOT_TRANSLATED HP:5200238 en fr rdfs:label Vowel expressive impediment NOT_TRANSLATED HP:5200239 en fr rdfs:label Consonant expressive impediment NOT_TRANSLATED @@ -14805,7 +14805,7 @@ HP:6000227 en fr rdfs:label Prosthetic heart valve NOT_TRANSLATED HP:6000228 en fr rdfs:label Failure to increase oxygen saturation on hyperoxia test NOT_TRANSLATED HP:6000229 en fr rdfs:label High-set nipples NOT_TRANSLATED HP:6000230 en fr rdfs:label Decreased muscle caveolin-3 level NOT_TRANSLATED -HP:6000231 en fr rdfs:label Abnormal tissue enzyme activity NOT_TRANSLATED +HP:6000231 en fr rdfs:label Abnormal tissue enzyme concentration or activity NOT_TRANSLATED HP:6000232 en fr rdfs:label Splenic necrosis NOT_TRANSLATED HP:6000233 en fr rdfs:label Carcinoid tumor of the pancreas NOT_TRANSLATED HP:6000234 en fr rdfs:label Elevated circulating dihydroxyphenylacetic acid concentration NOT_TRANSLATED @@ -15023,5 +15023,250 @@ HP:6000445 en fr rdfs:label Elevated thallium cadmiun concentration NOT_TRANSLA HP:6000446 en fr rdfs:label Abnormal circulating CC chemokine concentration NOT_TRANSLATED HP:6000447 en fr rdfs:label Decreased CSF asialotransferrin to transferrin ratio NOT_TRANSLATED HP:6000448 en fr rdfs:label Anti-desmocollin antibody positivity NOT_TRANSLATED +HP:6000449 en fr rdfs:label Occupational exposure to raw nonsynthetic textiles NOT_TRANSLATED +HP:6000450 en fr rdfs:label Rokitansky-Aschoff gallbladder sinuses NOT_TRANSLATED +HP:6000451 en fr rdfs:label Porcelain gallbladder NOT_TRANSLATED +HP:6000452 en fr rdfs:label Gallbladder adhesions NOT_TRANSLATED +HP:6000453 en fr rdfs:label Bilioduodenal fistula NOT_TRANSLATED +HP:6000454 en fr rdfs:label Pneumobilia NOT_TRANSLATED +HP:6000455 en fr rdfs:label Ectopic gallstone NOT_TRANSLATED +HP:6000456 en fr rdfs:label Sleep drunkeness NOT_TRANSLATED +HP:6000457 en fr rdfs:label Mallory bodies NOT_TRANSLATED +HP:6000458 en fr rdfs:label Sulfur-containing abscess NOT_TRANSLATED +HP:6000459 en fr rdfs:label Retracted tympanic membrane NOT_TRANSLATED +HP:6000460 en fr rdfs:label Ectopic testis NOT_TRANSLATED +HP:6000461 en fr rdfs:label Cerebral subcortical cyst NOT_TRANSLATED +HP:6000462 en fr rdfs:label Anti-ADAMTS13 antibody positivity NOT_TRANSLATED +HP:6000463 en fr rdfs:label Habitual mouth breathing NOT_TRANSLATED +HP:6000464 en fr rdfs:label Squared off shoulders NOT_TRANSLATED +HP:6000465 en fr rdfs:label Elevated urine mesaconic acid level NOT_TRANSLATED +HP:6000466 en fr rdfs:label Elevated urine 3-methyladipic acid level NOT_TRANSLATED +HP:6000467 en fr rdfs:label Elevated urine D-lactate level NOT_TRANSLATED +HP:6000468 en fr rdfs:label Elevated CSF alpha-ketoglutarate concentration NOT_TRANSLATED +HP:6000469 en fr rdfs:label Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level NOT_TRANSLATED +HP:6000470 en fr rdfs:label Fetal oral mass NOT_TRANSLATED +HP:6000471 en fr rdfs:label Dilated ejaculatory duct NOT_TRANSLATED +HP:6000472 en fr rdfs:label Decreased Wiskott-Aldrich syndrome protein concentration in hematopoietic cells NOT_TRANSLATED +HP:6000473 en fr rdfs:label Decreased FOXP3-expressing T cell count NOT_TRANSLATED +HP:6000474 en fr rdfs:label Elevated circulating complement component concentration NOT_TRANSLATED +HP:6000475 en fr rdfs:label Anti-beta fodrin antibody positivity NOT_TRANSLATED +HP:6000476 en fr rdfs:label Elevated circulating tetradecenoylcarnitine concentration NOT_TRANSLATED +HP:6000477 en fr rdfs:label Elevated urine 2-trans,4-cis-decadienoylcarnitine level NOT_TRANSLATED +HP:6000478 en fr rdfs:label Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration NOT_TRANSLATED +HP:6000479 en fr rdfs:label Elevated urine N-acetyltyrosine level NOT_TRANSLATED +HP:6000480 en fr rdfs:label Elevated urine manganese level NOT_TRANSLATED +HP:6000481 en fr rdfs:label Reduced urinary manganese level NOT_TRANSLATED +HP:6000482 en fr rdfs:label Decreased circulating catecholamine concentration NOT_TRANSLATED +HP:6000483 en fr rdfs:label Empty sella turcica NOT_TRANSLATED +HP:6000484 en fr rdfs:label Elevated brain guanidinoacetate level by MRS NOT_TRANSLATED +HP:6000485 en fr rdfs:label Elevated circulating beta chorionic gonadotropin concentration NOT_TRANSLATED +HP:6000486 en fr rdfs:label Elevated circulating CXCL10 concentration NOT_TRANSLATED +HP:6000487 en fr rdfs:label Reduced circulating interleukin 12 concentration NOT_TRANSLATED +HP:6000488 en fr rdfs:label Reduced circulating fibroblast growth factor 23 concentration NOT_TRANSLATED +HP:6000489 en fr rdfs:label Abnormal circulating fibroblast growth factor 23 concentration NOT_TRANSLATED +HP:6000490 en fr rdfs:label Impaired heel-walking ability NOT_TRANSLATED +HP:6000491 en fr rdfs:label Anti-prothrombin antibody positivity NOT_TRANSLATED +HP:6000492 en fr rdfs:label Anti-factor V antibody positivity NOT_TRANSLATED +HP:6000493 en fr rdfs:label Anti-factor VII antibody positivity NOT_TRANSLATED +HP:6000494 en fr rdfs:label Anti-factor VIII antibody positivity NOT_TRANSLATED +HP:6000495 en fr rdfs:label Anti-factor IX antibody positivity NOT_TRANSLATED +HP:6000496 en fr rdfs:label Anti-factor X antibody positivity NOT_TRANSLATED +HP:6000497 en fr rdfs:label Anti-factor XI antibody positivity NOT_TRANSLATED +HP:6000498 en fr rdfs:label Anti-factor XIII antibody positivity NOT_TRANSLATED +HP:6000499 en fr rdfs:label Anti-factor H antibody positivity NOT_TRANSLATED +HP:6000500 en fr rdfs:label Extremities cold to touch NOT_TRANSLATED +HP:6000501 en fr rdfs:label Ruffled acrosome NOT_TRANSLATED +HP:6000502 en fr rdfs:label Elevated circulating calprotectin concentration NOT_TRANSLATED +HP:6000503 en fr rdfs:label 4-5 toe cutaneous syndactyly NOT_TRANSLATED +HP:6000504 en fr rdfs:label Poly-hill sign NOT_TRANSLATED +HP:6000505 en fr rdfs:label 3-5 finger cutaneous syndactyly NOT_TRANSLATED +HP:6000506 en fr rdfs:label Radioulnar subluxation NOT_TRANSLATED +HP:6000507 en fr rdfs:label Non-pitting edema NOT_TRANSLATED +HP:6000508 en fr rdfs:label Anti-human ferritin peptide antibody positivity NOT_TRANSLATED +HP:6000509 en fr rdfs:label Elevated CSF L-2-hydroxyglutaric acid concentration NOT_TRANSLATED +HP:6000510 en fr rdfs:label Elevated erythrocyte inosine triphosphate concentration NOT_TRANSLATED +HP:6000511 en fr rdfs:label Reduced erythrocyte inosine triphosphatase activity NOT_TRANSLATED +HP:6000512 en fr rdfs:label Reduced circulating alpha-1,3-fucosyltransferase activity NOT_TRANSLATED +HP:6000513 en fr rdfs:label Diminished neutrophil myeloperoxidase activity NOT_TRANSLATED +HP:6000514 en fr rdfs:label Reduced erythrocyte uroporphyrinogen III cosynthase activity NOT_TRANSLATED +HP:6000515 en fr rdfs:label Elevated 18-hydroxycorticosterone to aldosterone ratio NOT_TRANSLATED +HP:6000516 en fr rdfs:label Elevated circulating 21-deoxycortisol concentration NOT_TRANSLATED +HP:6000517 en fr rdfs:label Elevated monolysocardiolipin/cardiolipin ratio NOT_TRANSLATED +HP:6000518 en fr rdfs:label Low maternal vitamin B12 concentration NOT_TRANSLATED +HP:6000519 en fr rdfs:label Elevated circulating inhibin A concentration NOT_TRANSLATED +HP:6000520 en fr rdfs:label Increased circulating inhibin B concentration NOT_TRANSLATED +HP:6000521 en fr rdfs:label Elevated circulating lipoprotein(a) concentration NOT_TRANSLATED +HP:6000522 en fr rdfs:label Reduced circulating lipoprotein(a) concentration NOT_TRANSLATED +HP:6000523 en fr rdfs:label Increased urinary bile acid level NOT_TRANSLATED +HP:6000524 en fr rdfs:label Abnormal urinary bile acid level NOT_TRANSLATED +HP:6000525 en fr rdfs:label Reduced erythrocyte glutathione reductase activity NOT_TRANSLATED +HP:6000526 en fr rdfs:label Failure to elevate lactate upon ischemic exercise test NOT_TRANSLATED +HP:6000527 en fr rdfs:label Elevated circulating cholestanol concentration NOT_TRANSLATED +HP:6000528 en fr rdfs:label Livestock exposure NOT_TRANSLATED +HP:6000529 en fr rdfs:label Synchronous skin lesions NOT_TRANSLATED +HP:6000530 en fr rdfs:label Serpentine skin location NOT_TRANSLATED +HP:6000531 en fr rdfs:label Abnormal urinary organic compound level NOT_TRANSLATED +HP:6000532 en fr rdfs:label Elevated urinary histamine level NOT_TRANSLATED +HP:6000533 en fr rdfs:label Elevated urinary N-methylhistamine level NOT_TRANSLATED +HP:6000534 en fr rdfs:label Elevated urinary ureidopropionic acid level NOT_TRANSLATED +HP:6000535 en fr rdfs:label Elevated urinary porphyrin level NOT_TRANSLATED +HP:6000536 en fr rdfs:label Elevated urinary coproporphyrin level NOT_TRANSLATED +HP:6000537 en fr rdfs:label Ecrrine sweat gland predominance NOT_TRANSLATED +HP:6000538 en fr rdfs:label Poorly demarcated skin lesion NOT_TRANSLATED +HP:6000539 en fr rdfs:label History of recent cat bite NOT_TRANSLATED +HP:6000540 en fr rdfs:label History of recent stay in area with inadequate sewage sanitation NOT_TRANSLATED +HP:6000541 en fr rdfs:label Positive cutaneous herpes simplex virus nucleic acid test NOT_TRANSLATED +HP:6000542 en fr rdfs:label Positive CSF mycobacterium tuberculosis nucleic acid test NOT_TRANSLATED +HP:6000543 en fr rdfs:label Posiitive mycobacterium CSF culture NOT_TRANSLATED +HP:6000544 en fr rdfs:label Positive mycobacterium CSF microscopy NOT_TRANSLATED +HP:6000545 en fr rdfs:label Positive treponema pallidum PCR test in the blood circulation NOT_TRANSLATED +HP:6000546 en fr rdfs:label Positive human Immunodeficiency virus nucleic acid test in the blood circulation NOT_TRANSLATED +HP:6000547 en fr rdfs:label Positive CSF enterovirus nucleic acid test NOT_TRANSLATED +HP:6000548 en fr rdfs:label Positive CSF Borrelia burgdorferi nucleic acid test NOT_TRANSLATED +HP:6000549 en fr rdfs:label Positive CSF arbovirus nucleic acid test NOT_TRANSLATED +HP:6000550 en fr rdfs:label Positive Bartonella henselae nucleic acid test in the blood circulation NOT_TRANSLATED +HP:6000551 en fr rdfs:label Positive Dengue virus PCR test in the blood circulation NOT_TRANSLATED +HP:6000552 en fr rdfs:label Positive CSF JC-virus nucleic acid test NOT_TRANSLATED +HP:6000553 en fr rdfs:label Bloodstream Malaria parasite NOT_TRANSLATED +HP:6000554 en fr rdfs:label Positive bloodstream plasmodium falciparum nucleic acid pathogen test NOT_TRANSLATED +HP:6000555 en fr rdfs:label Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity NOT_TRANSLATED +HP:6000556 en fr rdfs:label Reduced circulating dopamine beta-hydroxylase activity NOT_TRANSLATED +HP:6000557 en fr rdfs:label Reduced erythrocyte bisphosphoglycerate mutase activity NOT_TRANSLATED +HP:6000558 en fr rdfs:label Reduced erythrocyte adenylate kinase activity NOT_TRANSLATED +HP:6000559 en fr rdfs:label Reduced erythrocyte hexokinase activity NOT_TRANSLATED +HP:6000560 en fr rdfs:label Decreased circulating carboxypeptidase N activity NOT_TRANSLATED +HP:6000561 en fr rdfs:label Elevated red cell pyruvate kinase activity NOT_TRANSLATED +HP:6000562 en fr rdfs:label Reduced circulating adenosine deaminase-2 activity NOT_TRANSLATED +HP:6000563 en fr rdfs:label Reduced sepiapterin reductase activity in cultured fibroblasts NOT_TRANSLATED +HP:6000564 en fr rdfs:label Elevated circulating vasoactive intestinal peptide concentration NOT_TRANSLATED +HP:6000565 en fr rdfs:label Elevated circulating cholesterol sulfate concentration NOT_TRANSLATED +HP:6000566 en fr rdfs:label Elevated circulating lipoprotein X concentration NOT_TRANSLATED +HP:6000567 en fr rdfs:label Elevated circulating oxalate concentration NOT_TRANSLATED +HP:6000568 en fr rdfs:label Elevated blood ethylene glycol concentration NOT_TRANSLATED +HP:6000569 en fr rdfs:label Midline notching of lower lip NOT_TRANSLATED +HP:6000570 en fr rdfs:label Reduced tissue thymidine phosphorylase activity NOT_TRANSLATED +HP:6000571 en fr rdfs:label Reduced tissue tripeptidyl peptidase 1 activity NOT_TRANSLATED +HP:6000572 en fr rdfs:label Reduced tissue arginine:glycine amidinotransferase activity NOT_TRANSLATED +HP:6000573 en fr rdfs:label Reduced tissue aspartylglucosaminidase activity NOT_TRANSLATED +HP:6000574 en fr rdfs:label Reduced tissue carnitine-acylcarnitine translocase activity NOT_TRANSLATED +HP:6000575 en fr rdfs:label Reduced circulating 6-pyruvoyltetrahydropterin synthase activity NOT_TRANSLATED +HP:6000576 en fr rdfs:label Reduced tissue mannosyl-oligosaccharide glucosidase activity NOT_TRANSLATED +HP:6000577 en fr rdfs:label Reduced tissue 3-methylglutaconyl-CoA hydratase activity NOT_TRANSLATED +HP:6000578 en fr rdfs:label Reduced tissue gamma-glutamyltransferase activity NOT_TRANSLATED +HP:6000579 en fr rdfs:label Positive oropharangeal infectious agent test NOT_TRANSLATED +HP:6000580 en fr rdfs:label Positive oropharynx poliovirus nucleic acid test NOT_TRANSLATED +HP:6000581 en fr rdfs:label Positive synonvial fluid infectious agent test NOT_TRANSLATED +HP:6000582 en fr rdfs:label Positive synonvial fluid culture NOT_TRANSLATED +HP:6000583 en fr rdfs:label Positive synovial fluid gram stain NOT_TRANSLATED +HP:6000584 en fr rdfs:label Anti Parvovirus antibody positivity NOT_TRANSLATED +HP:6000585 en fr rdfs:label Brain parenchymal tuberculoma NOT_TRANSLATED +HP:6000586 en fr rdfs:label Muscle arteriovenous malformation NOT_TRANSLATED +HP:6000587 en fr rdfs:label Bone arteriovenous malformation NOT_TRANSLATED +HP:6000588 en fr rdfs:label Periosteal elevation NOT_TRANSLATED +HP:6000589 en fr rdfs:label Esophageal dilation NOT_TRANSLATED +HP:6000590 en fr rdfs:label Spinal lipoma NOT_TRANSLATED +HP:6000591 en fr rdfs:label Loose body in joint NOT_TRANSLATED +HP:6000592 en fr rdfs:label Paraspinal arteriovenous malformation NOT_TRANSLATED +HP:6000593 en fr rdfs:label Supernumerary tarsal bone NOT_TRANSLATED +HP:6000594 en fr rdfs:label Maxillary cyst NOT_TRANSLATED +HP:6000595 en fr rdfs:label Mandibular cyst NOT_TRANSLATED +HP:6000596 en fr rdfs:label Sixth cranial nerve hypoplasia NOT_TRANSLATED +HP:6000597 en fr rdfs:label Third cranial nerve hypoplasia NOT_TRANSLATED +HP:6000598 en fr rdfs:label Elevated urinary succinylacetone level NOT_TRANSLATED +HP:6000599 en fr rdfs:label Elevated urinary 2-oxoisocaproic level NOT_TRANSLATED +HP:6000600 en fr rdfs:label Elevated urinary 2-oxovaleric acid level NOT_TRANSLATED +HP:6000601 en fr rdfs:label Elevated urinary 2-hydroxyisocaproic acid level NOT_TRANSLATED +HP:6000602 en fr rdfs:label Elevated urinary isovalerylglycine level NOT_TRANSLATED +HP:6000603 en fr rdfs:label Elevated urinary 2-methyl-3-hydroxybutyric acid level NOT_TRANSLATED +HP:6000604 en fr rdfs:label Elevated urinary 3-hydroxypentanoic acid level NOT_TRANSLATED +HP:6000605 en fr rdfs:label Elevated urinary 7-hydroxyoctanoic acid level NOT_TRANSLATED +HP:6000606 en fr rdfs:label Elevated urinary D-glyceric acid level NOT_TRANSLATED +HP:6000607 en fr rdfs:label Elevated urinary 3-hydroxyisobutyric acid level NOT_TRANSLATED +HP:6000608 en fr rdfs:label Elevated urinary 3,4-Dihydroxybutyric acid level NOT_TRANSLATED +HP:6000609 en fr rdfs:label Elevated urinary 3-hydroxyadipic acid level NOT_TRANSLATED +HP:6000610 en fr rdfs:label Elevated erythrocyte galactose-1-phosphate concentration NOT_TRANSLATED +HP:6000611 en fr rdfs:label Elevated circulating chitotriosidase activity NOT_TRANSLATED +HP:6000612 en fr rdfs:label Squamosal suture synostosis NOT_TRANSLATED +HP:6000613 en fr rdfs:label Enlarged fetal lungs NOT_TRANSLATED +HP:6000614 en fr rdfs:label Orbital inflammation NOT_TRANSLATED +HP:6000615 en fr rdfs:label Reduced Inositol polyphosphate 5-phosphatase OCRL-1 activity in cultured fibroblasts NOT_TRANSLATED +HP:6000616 en fr rdfs:label Reduced muscle glycogen debrancher enzyme activity NOT_TRANSLATED +HP:6000617 en fr rdfs:label Reduced tissue UDP-glucuronyl-transferase activity NOT_TRANSLATED +HP:6000618 en fr rdfs:label Temporal artery giant cells NOT_TRANSLATED +HP:6000619 en fr rdfs:label Reduced phosphoenolpyruvate carboxykinase activity in cultured fibroblasts NOT_TRANSLATED +HP:6000620 en fr rdfs:label Elevated urinary pyrroline hydroxycarboxylic acid level NOT_TRANSLATED +HP:6000621 en fr rdfs:label Elevated urinary N-tau-ribosylhistidine level NOT_TRANSLATED +HP:6000622 en fr rdfs:label Elevated urinary ureidoisobutyric acid level NOT_TRANSLATED +HP:6000623 en fr rdfs:label Elevated urinary N-carbamyl-beta-aminoisobutyric acid level NOT_TRANSLATED +HP:6000624 en fr rdfs:label Nipple epidermal Paget cells NOT_TRANSLATED +HP:6000625 en fr rdfs:label Penile corporal blood gas ischemia NOT_TRANSLATED +HP:6000626 en fr rdfs:label Recent temporal region trauma NOT_TRANSLATED +HP:6000627 en fr rdfs:label Rest limb pain NOT_TRANSLATED +HP:6000628 en fr rdfs:label Scalloped appearance of liver surface NOT_TRANSLATED +HP:6000629 en fr rdfs:label Nipple thickening NOT_TRANSLATED +HP:6000630 en fr rdfs:label Hypoechoic breast mass NOT_TRANSLATED +HP:6000631 en fr rdfs:label Unilocular ovarian cyst NOT_TRANSLATED +HP:6000632 en fr rdfs:label Mesenteric torsion NOT_TRANSLATED +HP:6000633 en fr rdfs:label High-pitched bowel sounds NOT_TRANSLATED +HP:6000634 en fr rdfs:label Exacerbated by opiate medication NOT_TRANSLATED +HP:6000635 en fr rdfs:label Breast granuloma NOT_TRANSLATED +HP:6000636 en fr rdfs:label Exposure to cosmetic fragrances NOT_TRANSLATED +HP:6000637 en fr rdfs:label Sweating and flushing in the preauricular area in response to mastication NOT_TRANSLATED +HP:6000638 en fr rdfs:label Reduced hepatic glyoxylate reductase activity NOT_TRANSLATED +HP:6000639 en fr rdfs:label PAS-positive lymphocyte vacuolization NOT_TRANSLATED +HP:6000640 en fr rdfs:label Lipid-laden bone-marrow macrophages NOT_TRANSLATED +HP:6000641 en fr rdfs:label Bone marrow monocytosis NOT_TRANSLATED +HP:6000642 en fr rdfs:label Sunflower cataract NOT_TRANSLATED +HP:6000643 en fr rdfs:label Anti-lamin A antibody positivity NOT_TRANSLATED +HP:6000644 en fr rdfs:label Anti-lamin C antibody positivity NOT_TRANSLATED +HP:6000645 en fr rdfs:label Anti-vinculin antibody positivity NOT_TRANSLATED +HP:6000646 en fr rdfs:label Anti-annexin A5 antibody positivity NOT_TRANSLATED +HP:6000647 en fr rdfs:label Bulging fontanelle NOT_TRANSLATED +HP:6000648 en fr rdfs:label 3-4 toe cutaneous syndactyly NOT_TRANSLATED +HP:6000649 en fr rdfs:label Triangular nail NOT_TRANSLATED +HP:6000650 en fr rdfs:label Distal tibiofibular synostosis NOT_TRANSLATED +HP:6000651 en fr rdfs:label Abnormal metacarpal ossification NOT_TRANSLATED +HP:6000652 en fr rdfs:label Rib spur NOT_TRANSLATED +HP:6000653 en fr rdfs:label Crescent-shaped iliac bone NOT_TRANSLATED +HP:6000654 en fr rdfs:label Abnormal ischium ossification NOT_TRANSLATED +HP:6000655 en fr rdfs:label Femoral neck fracture NOT_TRANSLATED +HP:6000656 en fr rdfs:label Papillary dermis eosinophilic hyaline material NOT_TRANSLATED +HP:6000657 en fr rdfs:label Pancreatic intraductal papillary mucinous neoplasm NOT_TRANSLATED +HP:6000658 en fr rdfs:label Medium vessel vasculitis NOT_TRANSLATED +HP:6000659 en fr rdfs:label Elevated muscle fiber laminin alpha 5 expression NOT_TRANSLATED +HP:6000660 en fr rdfs:label Paravertebral mass NOT_TRANSLATED +HP:6000661 en fr rdfs:label Phlebolith NOT_TRANSLATED +HP:6000662 en fr rdfs:label Bladder rupture NOT_TRANSLATED +HP:6000663 en fr rdfs:label Elevated myocardial iron load NOT_TRANSLATED +HP:6000664 en fr rdfs:label Right ventricular regional wall motion abnormality NOT_TRANSLATED +HP:6000665 en fr rdfs:label Right ventricular regional akinesia NOT_TRANSLATED +HP:6000666 en fr rdfs:label Right ventricular regional dyskinesia NOT_TRANSLATED +HP:6000667 en fr rdfs:label Right ventricular aneurysm NOT_TRANSLATED +HP:6000668 en fr rdfs:label Glomerular immune-complex deposition NOT_TRANSLATED +HP:6000669 en fr rdfs:label Glomerular PLA2R immune-complex deposition NOT_TRANSLATED +HP:6000670 en fr rdfs:label Elevated urinary L-glycerate level NOT_TRANSLATED +HP:6000671 en fr rdfs:label Breast myxoma NOT_TRANSLATED +HP:6000672 en fr rdfs:label Ovarian cystadenoma NOT_TRANSLATED +HP:6000673 en fr rdfs:label Abnormal CSF N-acetylaspartic acid concentration NOT_TRANSLATED +HP:6000674 en fr rdfs:label Decreased CSF N-acetylaspartic acid concentration NOT_TRANSLATED +HP:6000675 en fr rdfs:label Elevated urinary mevalonate lactone level NOT_TRANSLATED +HP:6000676 en fr rdfs:label Anti-von Willebrand factor antibody positivity NOT_TRANSLATED +HP:6000677 en fr rdfs:label Elevated natural killer cell count NOT_TRANSLATED +HP:6000678 en fr rdfs:label Myositis-specific autoantibody positivity NOT_TRANSLATED +HP:6000679 en fr rdfs:label Abnormal serum osmolality NOT_TRANSLATED +HP:6000680 en fr rdfs:label Low serum osmolality NOT_TRANSLATED +HP:6000681 en fr rdfs:label High serum osmolality NOT_TRANSLATED +HP:6000682 en fr rdfs:label History of compressive dressings NOT_TRANSLATED +HP:6000683 en fr rdfs:label Triggered by overhead motions NOT_TRANSLATED +HP:6000684 en fr rdfs:label Radiating pain NOT_TRANSLATED +HP:6000685 en fr rdfs:label Mitral opening snap NOT_TRANSLATED +HP:6000686 en fr rdfs:label Mucus in stool NOT_TRANSLATED +HP:6000687 en fr rdfs:label Elevated circulating CCL3 concentration NOT_TRANSLATED +HP:6000688 en fr rdfs:label Elevated circulating CCL4 concentration NOT_TRANSLATED +HP:6000689 en fr rdfs:label Elevated CSF 14-3-3 protein concentration NOT_TRANSLATED +HP:6000690 en fr rdfs:label Elevated CSF dihydrobiopterin concentration NOT_TRANSLATED +HP:6000691 en fr rdfs:label Left atrial fibrosis NOT_TRANSLATED +HP:6000692 en fr rdfs:label Abnormal circulating atrial natriuretic peptide pro-hormone concentration NOT_TRANSLATED +HP:6000693 en fr rdfs:label Reduced circulating NT-proANP concentration NOT_TRANSLATED RO:0000052 en fr rdfs:label inheres in NOT_TRANSLATED RO:0002314 en fr rdfs:label inheres in part of NOT_TRANSLATED diff --git a/src/translations/hp-fr-preprocessed.babelon.tsv b/src/translations/hp-fr-preprocessed.babelon.tsv index 7d34726e2..e33c7b56a 100644 --- a/src/translations/hp-fr-preprocessed.babelon.tsv +++ b/src/translations/hp-fr-preprocessed.babelon.tsv @@ -666,7 +666,7 @@ HP:0000413 en fr rdfs:label label of HP:0000413 (Atresia of the external auditor HP:0000414 en fr IAO:0000115 definition of HP:0000414 (Bulbous nose) ; abnormality of head or neck Increased volume and globular shape of the anteroinferior aspect of the nose. OFFICIAL Augmentation du volume et forme globulaire de la face antéro-inférieure du nez. HP:0000414 en fr rdfs:label label of HP:0000414 (Bulbous nose) ; abnormality of head or neck Bulbous nose OFFICIAL Nez bulbeux HP:0000415 en fr IAO:0000115 definition of HP:0000415 (Abnormality of the choanae) ; abnormality of head or neck Abnormality of the choanae (the posterior nasal apertures). OFFICIAL Anomalie des choanes (les ouvertures nasales postérieures) -HP:0000415 en fr rdfs:label label of HP:0000415 (Abnormality of the choanae) ; abnormality of head or neck Abnormality of the choanae OFFICIAL Anomalie des choanes +HP:0000415 en fr rdfs:label label of HP:0000415 (Abnormality of the choanae) ; abnormality of head or neck Abnormal choanae morphology CANDIDATE Anomalie des choanes HP:0000417 en fr rdfs:label label of HP:0000417 (Slender nose) ; abnormality of head or neck Slender nose OFFICIAL Nez mince HP:0000418 en fr IAO:0000115 definition of HP:0000418 (Narrow nasal ridge) ; abnormality of head or neck Decreased width of the nasal ridge. OFFICIAL Diminution de la largeur de l'arête nasale HP:0000418 en fr rdfs:label label of HP:0000418 (Narrow nasal ridge) ; abnormality of head or neck Narrow nasal ridge OFFICIAL Arête nasale étroite @@ -885,7 +885,7 @@ HP:0000541 en fr rdfs:label label of HP:0000541 (Retinal detachment) ; abnormal HP:0000541 en fr rdfs:label label of HP:0000541 (Retinal detachment) ; abnormality of the eye Retinal detachment OFFICIAL Décollement de rétine HP:0000542 en fr IAO:0000115 definition of HP:0000542 (Impaired ocular adduction) ; abnormality of the eye Reduced ability to move the eye in the direction of the nose. OFFICIAL Diminution de la capacité à déplacer l'œil dans la direction du nez HP:0000542 en fr rdfs:label label of HP:0000542 (Impaired ocular adduction) ; abnormality of the eye Impaired ocular adduction OFFICIAL Adduction oculaire altérée -HP:0000543 en fr IAO:0000115 definition of HP:0000543 (Optic disc pallor) ; abnormality of the eye A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. OFFICIAL Une coloration jaune pâle du disque optique (zone de la tête du nerf optique dans la rétine). Le disque optique a normalement une teinte rosée avec une dépression centrale jaunâtre. +HP:0000543 en fr IAO:0000115 definition of HP:0000543 (Optic disc pallor) ; abnormality of the eye A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. CANDIDATE Une coloration jaune pâle du disque optique (zone de la tête du nerf optique dans la rétine). Le disque optique a normalement une teinte rosée avec une dépression centrale jaunâtre. HP:0000543 en fr rdfs:label label of HP:0000543 (Optic disc pallor) ; abnormality of the eye Optic disc pallor OFFICIAL Disques optiques pâles HP:0000544 en fr IAO:0000115 definition of HP:0000544 (External ophthalmoplegia) ; abnormality of the eye Paralysis of the external ocular muscles. OFFICIAL Paralysie des muscles oculaires externes HP:0000544 en fr rdfs:label label of HP:0000544 (External ophthalmoplegia) ; abnormality of the eye External ophthalmoplegia OFFICIAL Ophtalmoplégie externe @@ -1116,8 +1116,8 @@ HP:0000727 en fr rdfs:label label of HP:0000727 (Frontal lobe dementia) ; abnor HP:0000728 en fr rdfs:label label of HP:0000728 (Impaired ability to form peer relationships) ; abnormality of the nervous system Impaired ability to form peer relationships OFFICIAL Altération de la capacité à nouer des relations avec ses pairs HP:0000729 en fr rdfs:label label of HP:0000729 (Autistic behavior) ; abnormality of the nervous system Autistic behavior OFFICIAL Comportement autistique HP:0000732 en fr rdfs:label label of HP:0000732 (Inflexible adherence to routines or rituals) ; abnormality of the nervous system Inflexible adherence to routines CANDIDATE Adhérence inflexible aux routines et aux rituels -HP:0000733 en fr rdfs:label label of HP:0000733 (Stereotypy) ; abnormality of the nervous system Abnormal repetitive mannerisms CANDIDATE Stéréotypie -HP:0000733 en fr rdfs:label label of HP:0000733 (Stereotypy) ; abnormality of the nervous system Abnormal repetitive mannerisms CANDIDATE Stéréotypie +HP:0000733 en fr rdfs:label label of HP:0000733 (Stereotypy) ; abnormality of the nervous system Motor stereotypy CANDIDATE Stéréotypie +HP:0000733 en fr rdfs:label label of HP:0000733 (Stereotypy) ; abnormality of the nervous system Motor stereotypy CANDIDATE Stéréotypie HP:0000734 en fr rdfs:label label of HP:0000734 (Disinhibition) ; abnormality of the nervous system Disinhibition OFFICIAL Désinhibition HP:0000735 en fr rdfs:label label of HP:0000735 (Impaired social interactions) ; abnormality of the nervous system obsolete Impaired social interactions CANDIDATE Perturbation des interactions sociales HP:0000736 en fr rdfs:label label of HP:0000736 (Short attention span) ; abnormality of the nervous system Short attention span OFFICIAL Capacité d'attention courte @@ -2065,7 +2065,7 @@ HP:0001896 en fr rdfs:label label of HP:0001896 (Reticulocytopenia) ; abnormali HP:0001897 en fr rdfs:label label of HP:0001897 (Normocytic anemia) ; abnormality of blood and blood-forming tissues Normocytic anemia OFFICIAL Anémie normocytaire HP:0001898 en fr rdfs:label label of HP:0001898 (Increased red blood cell mass) ; abnormality of blood and blood-forming tissues Increased red blood cell mass OFFICIAL Augmentation de la masse cellulaire des globules rouges HP:0001899 en fr rdfs:label label of HP:0001899 (Increased hematocrit) ; abnormality of blood and blood-forming tissues Increased hematocrit OFFICIAL Hématocrite augmenté -HP:0001900 en fr rdfs:label label of HP:0001900 (Increased hemoglobin) ; abnormality of blood and blood-forming tissues Increased hemoglobin OFFICIAL Hémoglobine augmentée +HP:0001900 en fr rdfs:label label of HP:0001900 (Increased hemoglobin) ; abnormality of blood and blood-forming tissues Increased circulating hemoglobin concentration CANDIDATE Hémoglobine augmentée HP:0001901 en fr rdfs:label label of HP:0001901 (Polycythemia) ; abnormality of blood and blood-forming tissues Polycythemia OFFICIAL Polycythémie HP:0001902 en fr rdfs:label label of HP:0001902 (Giant platelets) ; abnormality of blood and blood-forming tissues Giant platelets OFFICIAL Plaquettes géantes HP:0001903 en fr rdfs:label label of HP:0001903 (Anemia) ; abnormality of blood and blood-forming tissues Anemia OFFICIAL Anémie @@ -2686,7 +2686,7 @@ HP:0002740 en fr rdfs:label label of HP:0002740 (Recurrent E. coli infections) HP:0002741 en fr rdfs:label label of HP:0002741 (Recurrent Serratia marcescens infections) ; abnormality of the immune system Recurrent Serratia marcescens infections OFFICIAL infection à Serratia marcescens récurrentes HP:0002742 en fr rdfs:label label of HP:0002742 (Recurrent Klebsiella infections) ; abnormality of the immune system Recurrent Klebsiella infections OFFICIAL Infections à Klebsiella récurrentes HP:0002743 en fr rdfs:label label of HP:0002743 (Recurrent enteroviral infections) ; abnormality of the immune system Recurrent enteroviral infections OFFICIAL infections entérovirales récurrentes -HP:0002744 en fr rdfs:label label of HP:0002744 (Bilateral cleft lip and palate) ; abnormality of head or neck Bilateral cleft lip and palate OFFICIAL Fente labiale/palatine bilatérale +HP:0002744 en fr rdfs:label label of HP:0002744 (Bilateral cleft lip and palate) ; abnormality of head or neck obsolete Bilateral cleft lip and palate CANDIDATE Fente labiale/palatine bilatérale HP:0002745 en fr rdfs:label label of HP:0002745 (Oral leukoplakia) ; abnormality of head or neck Oral leukoplakia OFFICIAL Leucoplasie orale HP:0002747 en fr rdfs:label label of HP:0002747 (Respiratory insufficiency due to muscle weakness) ; abnormality of the musculature ; abnormality of the respiratory system Respiratory insufficiency due to muscle weakness OFFICIAL Insuffisance respiratoire due à une faiblesse musculaire HP:0002748 en fr rdfs:label label of HP:0002748 (Rickets) ; abnormality of the skeletal system Rickets OFFICIAL Rachitisme @@ -3184,7 +3184,7 @@ HP:0003448 en fr rdfs:label label of HP:0003448 (Decreased sensory nerve conduct HP:0003449 en fr rdfs:label label of HP:0003449 (Cold-induced muscle cramps) ; abnormality of the musculature Cold-induced muscle cramps OFFICIAL Crampes musculaires induites par le froid HP:0003450 en fr rdfs:label label of HP:0003450 (Axonal regeneration) ; abnormality of the nervous system Axonal regeneration OFFICIAL Régénération axonale sur biopsie d'un nerf HP:0003451 en fr rdfs:label label of HP:0003451 (Increased rate of premature chromosome condensation) ; abnormality of metabolism/homeostasis ; abnormal cellular phenotype Increased rate of premature chromosome condensation OFFICIAL Augmentation de la fréquence des condensations chromosomiques prématurées -HP:0003452 en fr rdfs:label label of HP:0003452 (Increased serum iron) ; abnormality of metabolism/homeostasis Increased serum iron OFFICIAL Augmentation du fer serique +HP:0003452 en fr rdfs:label label of HP:0003452 (Increased serum iron) ; abnormality of metabolism/homeostasis Increased circulating iron concentration CANDIDATE Augmentation du fer serique HP:0003453 en fr rdfs:label label of HP:0003453 (Antineutrophil antibody positivity) ; abnormality of the immune system Antineutrophil antibody positivity OFFICIAL Positivité des anticorps anti-neutrophiles HP:0003454 en fr rdfs:label label of HP:0003454 (Platelet antibody positive) ; abnormality of the immune system Platelet antibody positive OFFICIAL Anticorps antiplaquettes positifs HP:0003455 en fr rdfs:label label of HP:0003455 (Elevated long chain fatty acids) ; abnormality of metabolism/homeostasis Elevated circulating long chain fatty acid concentration CANDIDATE Acides gras à longue chaîne élevés @@ -3285,7 +3285,7 @@ HP:0003621 en fr rdfs:label label of HP:0003621 (Juvenile onset) ; clinicalcour HP:0003623 en fr rdfs:label label of HP:0003623 (Neonatal onset) ; clinicalcourse Neonatal onset OFFICIAL Début néonatal HP:0003634 en fr rdfs:label label of HP:0003634 (Amyoplasia) ; abnormality of the musculature Amyoplasia OFFICIAL Amyoplasie HP:0003635 en fr rdfs:label label of HP:0003635 (Loss of subcutaneous adipose tissue in limbs) ; abnormality of connective tissue Loss of subcutaneous adipose tissue in limbs OFFICIAL Perte de tissu sous-cutané adipeux des membres -HP:0003637 en fr rdfs:label label of HP:0003637 (Reduced 4-Hydroxyphenylpyruvate dioxygenase activity) ; abnormality of metabolism/homeostasis Reduced 4-Hydroxyphenylpyruvate dioxygenase level CANDIDATE Activité réduite de la 4-hydroxyphénylpyruvate dioxygénase +HP:0003637 en fr rdfs:label label of HP:0003637 (Reduced 4-Hydroxyphenylpyruvate dioxygenase activity) ; abnormality of metabolism/homeostasis Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity CANDIDATE Activité réduite de la 4-hydroxyphénylpyruvate dioxygénase HP:0003639 en fr rdfs:label label of HP:0003639 (Elevated urinary epinephrine) ; abnormality of metabolism/homeostasis ; abnormality of the genitourinary system Elevated urinary epinephrine level CANDIDATE Adrénaline urinaire augmentée HP:0003640 en fr rdfs:label label of HP:0003640 (Foam cells in visceral organs and CNS) ; abnormality of the cardiovascular system CNS foam cells CANDIDATE Cellules spumeuses dans les organes viscéraux et le SNC HP:0003641 en fr rdfs:label label of HP:0003641 (Hemoglobinuria) ; abnormality of metabolism/homeostasis ; abnormality of the genitourinary system Hemoglobinuria OFFICIAL Hémoglobinurie @@ -3813,7 +3813,7 @@ HP:0004426 en fr rdfs:label label of HP:0004426 (Abnormality of the cheek) ; ab HP:0004428 en fr rdfs:label label of HP:0004428 (Elfin facies) ; abnormality of head or neck Elfin facies OFFICIAL Faciès de lutin HP:0004429 en fr rdfs:label label of HP:0004429 (Recurrent viral infections) ; abnormality of the immune system Recurrent viral infections OFFICIAL Infections virales récurrentes HP:0004430 en fr rdfs:label label of HP:0004430 (Severe combined immunodeficiency) ; abnormality of the immune system Severe combined immunodeficiency OFFICIAL Déficit immunitaire combiné sévère -HP:0004431 en fr rdfs:label label of HP:0004431 (Complement deficiency) ; abnormality of the immune system Complement deficiency OFFICIAL Déficit en complément +HP:0004431 en fr rdfs:label label of HP:0004431 (Complement deficiency) ; abnormality of the immune system Reduced circulating complement concentration CANDIDATE Déficit en complément HP:0004432 en fr rdfs:label label of HP:0004432 (Agammaglobulinemia) ; abnormality of metabolism/homeostasis ; abnormal cellular phenotype ; abnormality of the immune system Agammaglobulinemia OFFICIAL Agammaglobulinémie HP:0004433 en fr rdfs:label label of HP:0004433 (Secretory IgA deficiency) ; abnormality of metabolism/homeostasis ; abnormal cellular phenotype ; abnormality of the immune system Secretory IgA deficiency OFFICIAL Déficit en IgA sécrétoire HP:0004434 en fr rdfs:label label of HP:0004434 (C8 deficiency) ; abnormality of the immune system Decreased circulating complement C8 concentration CANDIDATE Déficit en C8 @@ -4297,7 +4297,7 @@ HP:0005280 en fr rdfs:label label of HP:0005280 (Depressed nasal bridge) ; abno HP:0005281 en fr rdfs:label label of HP:0005281 (Hypoplastic nasal bridge) ; abnormality of head or neck Hypoplastic nasal bridge OFFICIAL Arête nasale hypoplasique HP:0005285 en fr rdfs:label label of HP:0005285 (Absent nasal bridge) ; abnormality of head or neck Absent nasal bridge OFFICIAL Arête nasale absente HP:0005288 en fr rdfs:label label of HP:0005288 (Abnormality of the nares) ; abnormality of head or neck Abnormal nostril morphology CANDIDATE Anomalie des narines -HP:0005289 en fr rdfs:label label of HP:0005289 (Abnormality of the nasolabial region) ; abnormality of head or neck Abnormality of the nasolabial region OFFICIAL Anomalie de la région nasolabiale +HP:0005289 en fr rdfs:label label of HP:0005289 (Abnormality of the nasolabial region) ; abnormality of head or neck Abnormal nasolabial region morphology CANDIDATE Anomalie de la région nasolabiale HP:0005290 en fr rdfs:label label of HP:0005290 (Internal carotid artery hypoplasia) ; abnormality of head or neck ; abnormality of the cardiovascular system Internal carotid artery hypoplasia OFFICIAL Hypoplasie de l'artère carotide interne HP:0005291 en fr rdfs:label label of HP:0005291 (Inflammatory arteriopathy) ; abnormality of the cardiovascular system Inflammatory arteriopathy OFFICIAL Artériopathie inflammatoire HP:0005292 en fr rdfs:label label of HP:0005292 (Intimal thickening in the coronary arteries) ; abnormality of the cardiovascular system Intimal thickening in the coronary arteries OFFICIAL épaississement intimal des artères coronaires @@ -4909,13 +4909,13 @@ HP:0006409 en fr rdfs:label label of HP:0006409 (Progressive leg bowing) ; abno HP:0006413 en fr rdfs:label label of HP:0006413 (Broad tibial metaphyses) ; abnormality of limbs ; abnormality of the skeletal system Broad tibial metaphyses OFFICIAL Métaphyses tibiales larges HP:0006414 en fr rdfs:label label of HP:0006414 (Distal tibial bowing) ; abnormality of limbs ; abnormality of the skeletal system Distal tibial bowing OFFICIAL Incurvation du tibia distal HP:0006415 en fr rdfs:label label of HP:0006415 (Cortically dense long tubular bones) ; abnormality of the skeletal system Cortically dense long tubular bones OFFICIAL Os longs tubulaires denses au niveau cortical -HP:0006417 en fr rdfs:label label of HP:0006417 (Broad femoral metaphyses) ; abnormality of limbs ; abnormality of the skeletal system Broad femoral metaphyses OFFICIAL Larges métaphyses fémorales +HP:0006417 en fr rdfs:label label of HP:0006417 (Broad femoral metaphyses) ; abnormality of limbs ; abnormality of the skeletal system Wide femoral metaphysis CANDIDATE Larges métaphyses fémorales HP:0006420 en fr rdfs:label label of HP:0006420 (Asymmetric radial dysplasia) ; abnormality of limbs ; abnormality of the skeletal system Asymmetric radial dysplasia OFFICIAL Dysplasie radiale asymétrique HP:0006423 en fr rdfs:label label of HP:0006423 (Peg-like central prominence of distal tibial metaphyses) ; abnormality of limbs ; abnormality of the skeletal system Peg-like central prominence of distal tibial metaphyses OFFICIAL Proéminence centrale en forme de cheville des métaphyses tibiales distales HP:0006424 en fr rdfs:label label of HP:0006424 (Elongated radius) ; abnormality of limbs ; abnormality of the skeletal system Elongated radius OFFICIAL Radius anormalement long HP:0006426 en fr rdfs:label label of HP:0006426 (Rudimentary to absent tibiae) ; abnormality of limbs ; abnormality of the skeletal system Rudimentary to absent tibiae OFFICIAL Tibia rudimentaire à absent HP:0006429 en fr rdfs:label label of HP:0006429 (Broad femoral neck) ; abnormality of limbs ; abnormality of the skeletal system Broad femoral neck OFFICIAL Col du fémur large -HP:0006431 en fr rdfs:label label of HP:0006431 (Proximal femoral metaphyseal abnormality) ; abnormality of limbs ; abnormality of the skeletal system Proximal femoral metaphyseal abnormality OFFICIAL Anomalies métaphysaires des fémurs proximaux +HP:0006431 en fr rdfs:label label of HP:0006431 (Proximal femoral metaphyseal abnormality) ; abnormality of limbs ; abnormality of the skeletal system Abnormal proximal femoral metaphysis morphology CANDIDATE Anomalies métaphysaires des fémurs proximaux HP:0006432 en fr rdfs:label label of HP:0006432 (Trapezoidal distal femoral condyles) ; abnormality of limbs ; abnormality of the skeletal system Trapezoidal distal femoral condyles OFFICIAL Condyles fémoraux distaux trapézoïdaux HP:0006433 en fr rdfs:label label of HP:0006433 (Dysplastic radii) ; abnormality of limbs ; abnormality of the skeletal system Radial dysplasia CANDIDATE Radius dysplasiques HP:0006434 en fr rdfs:label label of HP:0006434 (Hypoplasia of proximal radius) ; abnormality of limbs ; abnormality of the skeletal system Hypoplasia of proximal radius OFFICIAL Hypoplasie du radius proximal @@ -6049,7 +6049,7 @@ HP:0008414 en fr rdfs:label label of HP:0008414 (Lumbar kyphosis in infancy) ; HP:0008416 en fr rdfs:label label of HP:0008416 (Six lumbar vertebrae) ; abnormality of the skeletal system Six lumbar vertebrae OFFICIAL Six vertèbres lombaires HP:0008417 en fr rdfs:label label of HP:0008417 (Vertebral hypoplasia) ; abnormality of the skeletal system Vertebral hypoplasia OFFICIAL Hypoplasie vertébrale HP:0008418 en fr rdfs:label label of HP:0008418 (Squared-off platyspondyly) ; abnormality of the skeletal system Squared-off platyspondyly OFFICIAL Platyspondylie au carré -HP:0008419 en fr rdfs:label label of HP:0008419 (Intervertebral disc degeneration) ; abnormality of the skeletal system Intervertebral disc degeneration OFFICIAL Dégénérescence des disques intervertébraux +HP:0008419 en fr rdfs:label label of HP:0008419 (Intervertebral disc degeneration) ; abnormality of the skeletal system Intervertebral disk degeneration CANDIDATE Dégénérescence des disques intervertébraux HP:0008420 en fr rdfs:label label of HP:0008420 (Punctate vertebral calcifications) ; abnormality of the skeletal system Punctate vertebral calcifications OFFICIAL calcifications vertébrales ponctuées HP:0008421 en fr rdfs:label label of HP:0008421 (Tall lumbar vertebral bodies) ; abnormality of the skeletal system Tall lumbar vertebral bodies OFFICIAL Corps vertébraux lombaires hauts HP:0008422 en fr rdfs:label label of HP:0008422 (Vertebral wedging) ; abnormality of the skeletal system Vertebral wedging OFFICIAL Tassement vertébral @@ -6113,9 +6113,9 @@ HP:0008491 en fr rdfs:label label of HP:0008491 (Premature anterior fontanel clo HP:0008494 en fr rdfs:label label of HP:0008494 (Inferior lens subluxation) ; abnormality of the eye Inferior lens subluxation OFFICIAL Subluxation du cristallin inférieur HP:0008496 en fr rdfs:label label of HP:0008496 (Multiple rows of eyelashes) ; abnormality of the integument ; abnormality of head or neck Multiple rows of eyelashes OFFICIAL Rangs multiples des cils HP:0008497 en fr rdfs:label label of HP:0008497 (Congenital craniofacial dysostosis) ; abnormality of head or neck ; abnormality of the skeletal system Congenital craniofacial dysostosis OFFICIAL Dysostose crânio-faciale congénitale -HP:0008498 en fr rdfs:label label of HP:0008498 (No permanent dentition) ; abnormality of head or neck No permanent dentition OFFICIAL Absence de dentition permanente +HP:0008498 en fr rdfs:label label of HP:0008498 (No permanent dentition) ; abnormality of head or neck obsolete No permanent dentition CANDIDATE Absence de dentition permanente HP:0008499 en fr rdfs:label label of HP:0008499 (High hypermetropia) ; abnormality of the eye High hypermetropia OFFICIAL Hypermétropie sévère -HP:0008501 en fr rdfs:label label of HP:0008501 (Median cleft lip and palate) ; abnormality of head or neck Median cleft lip and palate OFFICIAL Fente labiale/palatine médiane +HP:0008501 en fr rdfs:label label of HP:0008501 (Median cleft lip and palate) ; abnormality of head or neck obsolete Median cleft lip and palate CANDIDATE Fente labiale/palatine médiane HP:0008504 en fr rdfs:label label of HP:0008504 (Moderate sensorineural hearing impairment) ; abnormality of the ear Moderate sensorineural hearing impairment OFFICIAL Déficit auditif neurosensoriel modéré HP:0008507 en fr rdfs:label label of HP:0008507 (Static ophthalmoparesis) ; abnormality of the eye Static ophthalmoparesis OFFICIAL Ophtalmoparésie statique HP:0008509 en fr rdfs:label label of HP:0008509 (Aged leonine appearance) ; abnormality of the integument Aged leonine appearance OFFICIAL Apparence léonienne âgée @@ -6165,7 +6165,7 @@ HP:0008628 en fr rdfs:label label of HP:0008628 (Abnormality of the stapes) ; a HP:0008629 en fr rdfs:label label of HP:0008629 (Pulsatile tinnitus) ; abnormality of the ear Pulsatile tinnitus OFFICIAL Acouphène pulsatile HP:0008631 en fr rdfs:label label of HP:0008631 (Ureteral dysgenesis) ; abnormality of the genitourinary system Ureteral dysgenesis OFFICIAL Agénésié/dysgénésie urétérale HP:0008633 en fr rdfs:label label of HP:0008633 (Agonadism) ; abnormality of the genitourinary system Agonadism OFFICIAL Absence de tissu gonadique -HP:0008635 en fr rdfs:label label of HP:0008635 (Hypertrophy of the urinary bladder) ; abnormality of the genitourinary system Hypertrophy of the urinary bladder OFFICIAL Hypertrophie de la vessie urinaire +HP:0008635 en fr rdfs:label label of HP:0008635 (Hypertrophy of the urinary bladder) ; abnormality of the genitourinary system Urinary bladder wall hypertrophy CANDIDATE Hypertrophie de la vessie urinaire HP:0008636 en fr rdfs:label label of HP:0008636 (Lobular glomerulopathy) ; abnormality of the genitourinary system obsolete Lobular glomerulopathy CANDIDATE Glomérulopathie lobulaire HP:0008639 en fr rdfs:label label of HP:0008639 (Gonadal hypoplasia) ; abnormality of the genitourinary system Gonadal hypoplasia OFFICIAL Hypoplasie gonadique HP:0008640 en fr rdfs:label label of HP:0008640 (Congenital macroorchidism) ; abnormality of the genitourinary system Congenital macroorchidism OFFICIAL Macroorchidie congénitale @@ -6850,7 +6850,7 @@ HP:0009591 en fr rdfs:label label of HP:0009591 (Abnormality of the vestibulococ HP:0009592 en fr rdfs:label label of HP:0009592 (Astrocytoma) ; abnormality of the nervous system ; neoplasm Astrocytoma OFFICIAL astrocytome HP:0009593 en fr rdfs:label label of HP:0009593 (Peripheral Schwannoma) ; abnormality of the nervous system ; abnormality of the integument ; neoplasm Peripheral schwannoma OFFICIAL Schwannome périphérique HP:0009594 en fr rdfs:label label of HP:0009594 (Retinal hamartoma) ; abnormality of head or neck ; neoplasm ; abnormality of the eye Retinal hamartoma OFFICIAL Hamartomes rétiniens -HP:0009595 en fr rdfs:label label of HP:0009595 (Occasional neurofibromas) ; abnormality of the nervous system ; abnormality of the integument ; neoplasm Occasional neurofibromas OFFICIAL neurofibromes occasionnels +HP:0009595 en fr rdfs:label label of HP:0009595 (Occasional neurofibromas) ; abnormality of the nervous system ; abnormality of the integument ; neoplasm obsolete Occasional neurofibromas CANDIDATE neurofibromes occasionnels HP:0009596 en fr rdfs:label label of HP:0009596 (Aplasia of the proximal phalanx of the 2nd finger) ; abnormality of limbs ; abnormality of the skeletal system Aplasia of the proximal phalanx of the 2nd finger OFFICIAL Aplasie de la première phalange de l'index HP:0009597 en fr rdfs:label label of HP:0009597 (Short proximal phalanx of the 2nd finger) ; abnormality of limbs ; abnormality of the skeletal system Short proximal phalanx of the 2nd finger OFFICIAL phalange proximale de l'index petite/hypoplasique HP:0009598 en fr rdfs:label label of HP:0009598 (Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal) ; abnormality of limbs ; abnormality of the skeletal system Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal OFFICIAL Symphalangisme de la phalange proximale de l'index avec le 2nd métacarpien @@ -7137,7 +7137,7 @@ HP:0009918 en fr rdfs:label label of HP:0009918 (Ectopia pupillae) ; abnormalit HP:0009919 en fr rdfs:label label of HP:0009919 (Retinoblastoma) ; neoplasm ; abnormality of the eye Retinoblastoma OFFICIAL Rétinoblastome HP:0009920 en fr rdfs:label label of HP:0009920 (Nevus of Ota) ; abnormality of the integument Nevus of Ota OFFICIAL Naevus d'Ota HP:0009921 en fr rdfs:label label of HP:0009921 (Duane anomaly) ; abnormality of the eye Duane anomaly OFFICIAL Anomalie de Duane -HP:0009922 en fr rdfs:label label of HP:0009922 (Vascular remnant arising from the disc) ; abnormality of the eye Vascular remnant arising from the disc OFFICIAL Persistance de l'artère hyaloïde +HP:0009922 en fr rdfs:label label of HP:0009922 (Vascular remnant arising from the disc) ; abnormality of the eye Vascular remnant arising from the disk CANDIDATE Persistance de l'artère hyaloïde HP:0009924 en fr rdfs:label label of HP:0009924 (Aplasia/Hypoplasia involving the nose) ; abnormality of head or neck Aplasia/Hypoplasia involving the nose OFFICIAL Aplasie/hypoplasie impliquant le nez HP:0009926 en fr rdfs:label label of HP:0009926 (Epiphora) ; abnormality of the eye Epiphora OFFICIAL Augmentation de la production de larmes HP:0009927 en fr rdfs:label label of HP:0009927 (Aplasia of the nose) ; abnormality of head or neck Aplasia of the nose OFFICIAL Aplasie du nez @@ -7775,7 +7775,7 @@ HP:0010582 en fr rdfs:label label of HP:0010582 (Irregular epiphyses) ; abnorma HP:0010583 en fr rdfs:label label of HP:0010583 (Ivory epiphyses) ; abnormality of the skeletal system Ivory epiphyses OFFICIAL Épiphyses ivoire HP:0010584 en fr rdfs:label label of HP:0010584 (Pseudoepiphyses) ; abnormality of the skeletal system Pseudoepiphyses OFFICIAL pseudo-épiphyses HP:0010585 en fr rdfs:label label of HP:0010585 (Small epiphyses) ; abnormality of the skeletal system Small epiphyses OFFICIAL Petites épiphyses -HP:0010587 en fr rdfs:label label of HP:0010587 (Triangular epiphyses) ; abnormality of the skeletal system Triangular epiphyses OFFICIAL Épiphyses triangulaires +HP:0010587 en fr rdfs:label label of HP:0010587 (Triangular epiphyses) ; abnormality of the skeletal system Triangular epiphysis CANDIDATE Épiphyses triangulaires HP:0010588 en fr rdfs:label label of HP:0010588 (Premature epimetaphyseal fusion) ; abnormality of the skeletal system Premature epimetaphyseal fusion OFFICIAL fusion épimétaphysaire prématurée HP:0010590 en fr rdfs:label label of HP:0010590 (Abnormality of the distal femoral epiphysis) ; abnormality of limbs ; abnormality of the skeletal system Abnormality of the distal femoral epiphysis OFFICIAL Anomalie des épiphyses fémorales distales HP:0010591 en fr rdfs:label label of HP:0010591 (Abnormality of the proximal tibial epiphysis) ; abnormality of limbs ; abnormality of the skeletal system Abnormality of the proximal tibial epiphysis OFFICIAL Anomalies des épiphyses tibiales proximales @@ -7824,7 +7824,7 @@ HP:0010636 en fr rdfs:label label of HP:0010636 (Schizencephaly) ; abnormality HP:0010637 en fr rdfs:label label of HP:0010637 (Conjunctival amyloidosis) ; abnormality of metabolism/homeostasis ; abnormality of head or neck Conjunctival amyloidosis OFFICIAL amyloïdose conjonctivale HP:0010638 en fr rdfs:label label of HP:0010638 (Elevated alkaline phosphatase of hepatic origin) ; abnormality of metabolism/homeostasis Elevated alkaline phosphatase of hepatic origin OFFICIAL phosphatases alcalines élevées d'origine hépatique HP:0010639 en fr rdfs:label label of HP:0010639 (Elevated alkaline phosphatase of bone origin) ; abnormality of metabolism/homeostasis Elevated alkaline phosphatase of bone origin OFFICIAL Phosphatases alcalines élevées d'origine osseusse -HP:0010640 en fr rdfs:label label of HP:0010640 (Abnormality of the nasal cavity) ; abnormality of head or neck Abnormality of the nasal cavity OFFICIAL Anomalie de la fosse nasale +HP:0010640 en fr rdfs:label label of HP:0010640 (Abnormality of the nasal cavity) ; abnormality of head or neck Abnormal nasal cavity morphology CANDIDATE Anomalie de la fosse nasale HP:0010641 en fr rdfs:label label of HP:0010641 (Abnormality of the midnasal cavity) ; abnormality of head or neck Abnormality of the midnasal cavity OFFICIAL Anomalie de la cavité nasale médiane HP:0010643 en fr rdfs:label label of HP:0010643 (Midnasal atresia) ; abnormality of head or neck Midnasal atresia OFFICIAL atrésie nasale médiane HP:0010644 en fr rdfs:label label of HP:0010644 (Midnasal stenosis) ; abnormality of head or neck Midnasal stenosis OFFICIAL sténose nasale médiane @@ -8273,12 +8273,12 @@ HP:0011108 en fr rdfs:label label of HP:0011108 (Recurrent sinusitis) ; abnorma HP:0011109 en fr rdfs:label label of HP:0011109 (Chronic sinusitis) ; abnormality of head or neck ; abnormality of the immune system ; abnormality of the skeletal system Chronic sinusitis OFFICIAL Sinusite chronique HP:0011110 en fr rdfs:label label of HP:0011110 (Tonsillitis) ; abnormality of the immune system Recurrent tonsillitis CANDIDATE Tonsillite HP:0011111 en fr rdfs:label label of HP:0011111 (Abnormality of immune serum protein physiology) ; abnormality of the immune system Abnormal immune serum protein physiology CANDIDATE Anomalie de la physiologie des protéines sériques immunes -HP:0011112 en fr rdfs:label label of HP:0011112 (Abnormality of serum cytokine level) ; abnormality of the immune system Abnormality of serum cytokine level OFFICIAL Anomalie du taux de cytokines sériques +HP:0011112 en fr rdfs:label label of HP:0011112 (Abnormality of serum cytokine level) ; abnormality of the immune system Abnormal circulating cytokine concentration CANDIDATE Anomalie du taux de cytokines sériques HP:0011113 en fr rdfs:label label of HP:0011113 (Abnormality of cytokine secretion) ; abnormality of the immune system Abnormality of cytokine secretion OFFICIAL Anomalie de la sécrétion de la cytokine HP:0011114 en fr rdfs:label label of HP:0011114 (Defective production of NFKB1-dependent cytokines) ; abnormality of the immune system Defective production of NFKB1-dependent cytokines OFFICIAL Déficit de production des cytokines NFKB1-dépendantes -HP:0011115 en fr rdfs:label label of HP:0011115 (Abnormality of chemokine secretion) ; abnormality of the immune system Abnormality of chemokine secretion OFFICIAL Anomalie de sécrétion des chémokines -HP:0011116 en fr rdfs:label label of HP:0011116 (Abnormality of interferon secretion) ; abnormality of the immune system Abnormality of interferon secretion OFFICIAL Anomalie de sécrétion des interférons -HP:0011117 en fr rdfs:label label of HP:0011117 (Abnormality of interleukin secretion) ; abnormality of the immune system Abnormality of interleukin secretion OFFICIAL Anomalie de sécrétion des interleukines +HP:0011115 en fr rdfs:label label of HP:0011115 (Abnormality of chemokine secretion) ; abnormality of the immune system Abnormal circulating chemokine concentration CANDIDATE Anomalie de sécrétion des chémokines +HP:0011116 en fr rdfs:label label of HP:0011116 (Abnormality of interferon secretion) ; abnormality of the immune system Abnormal circulating interferon concentration CANDIDATE Anomalie de sécrétion des interférons +HP:0011117 en fr rdfs:label label of HP:0011117 (Abnormality of interleukin secretion) ; abnormality of the immune system Abnormal circulating interleukin concentration CANDIDATE Anomalie de sécrétion des interleukines HP:0011118 en fr rdfs:label label of HP:0011118 (Abnormality of tumor necrosis factor secretion) ; abnormality of the immune system Abnormality of tumor necrosis factor secretion OFFICIAL Anomalie de sécrétion du facteur de nécrose tumorale HP:0011119 en fr rdfs:label label of HP:0011119 (Abnormality of the nasal dorsum) ; abnormality of head or neck Abnormal nasal dorsum morphology CANDIDATE Anomalie du dos du nez HP:0011120 en fr rdfs:label label of HP:0011120 (Concave nasal ridge) ; abnormality of head or neck Concave nasal ridge OFFICIAL Nez en lorgnette @@ -9659,7 +9659,7 @@ HP:0012513 en fr rdfs:label label of HP:0012513 (Upper limb pain) ; constitutio HP:0012514 en fr rdfs:label label of HP:0012514 (Lower limb pain) ; constitutional symptom ; abnormality of the skeletal system Lower limb pain OFFICIAL Douleur du membre inférieur HP:0012515 en fr rdfs:label label of HP:0012515 (Hip flexor weakness) ; abnormality of limbs ; abnormality of the musculature Hip flexor weakness OFFICIAL Faiblesse des muscles fléchisseurs de la hanche HP:0012516 en fr rdfs:label label of HP:0012516 (Tetralogy of Fallot with pulmonary atresia) ; abnormality of the cardiovascular system Tetralogy of Fallot with pulmonary atresia OFFICIAL Tétralogie de Fallot avec atrésie pulmonaire -HP:0012517 en fr rdfs:label label of HP:0012517 (Reduced catalase activity) ; abnormality of metabolism/homeostasis Reduced catalase level CANDIDATE Activité réduite de la catalase +HP:0012517 en fr rdfs:label label of HP:0012517 (Reduced catalase activity) ; abnormality of metabolism/homeostasis Reduced circulating catalase activity CANDIDATE Activité réduite de la catalase HP:0012518 en fr rdfs:label label of HP:0012518 (Abnormal circle of Willis morphology) ; abnormality of the nervous system ; abnormality of the cardiovascular system Abnormal circle of Willis morphology OFFICIAL Anomalie du cercle artériel du cerveau HP:0012519 en fr rdfs:label label of HP:0012519 (Hypoplastic posterior communicating artery) ; abnormality of the nervous system ; abnormality of the cardiovascular system Hypoplastic posterior communicating artery OFFICIAL Hypoplasie de l'artère communicante postérieure HP:0012520 en fr rdfs:label label of HP:0012520 (Perivascular spaces) ; abnormality of the nervous system ; abnormality of the cardiovascular system Dilation of Virchow-Robin spaces CANDIDATE Espaces périvasculaires @@ -10073,7 +10073,7 @@ HP:0020059 en fr rdfs:label label of HP:0020059 (Increased red blood cell count) HP:0020060 en fr rdfs:label label of HP:0020060 (Decreased red blood cell count) ; abnormality of blood and blood-forming tissues Decreased red blood cell count OFFICIAL Diminution du nombre de globules rouges HP:0020061 en fr rdfs:label label of HP:0020061 (Abnormal hemoglobin concentration) ; abnormality of blood and blood-forming tissues Abnormal hemoglobin concentration OFFICIAL Concentration anormale d'hémoglobine HP:0020062 en fr rdfs:label label of HP:0020062 (Decreased hemoglobin concentration) ; abnormality of blood and blood-forming tissues Decreased hemoglobin concentration OFFICIAL Diminution de la concentration d'hémoglobine -HP:0020063 en fr rdfs:label label of HP:0020063 (Increased hemoglobin concentration) ; abnormality of blood and blood-forming tissues Increased hemoglobin concentration OFFICIAL Augmentation de la concentration d'hémoglobine +HP:0020063 en fr rdfs:label label of HP:0020063 (Increased hemoglobin concentration) ; abnormality of blood and blood-forming tissues obsolete Increased hemoglobin concentration CANDIDATE Augmentation de la concentration d'hémoglobine HP:0020064 en fr rdfs:label label of HP:0020064 (Abnormal eosinophil count) ; abnormality of the immune system ; abnormality of blood and blood-forming tissues Abnormal eosinophil count OFFICIAL Numération anormale des éosinophiles HP:0020071 en fr rdfs:label label of HP:0020071 (Viremia) ; abnormality of metabolism/homeostasis Viremia OFFICIAL Virémie HP:0020072 en fr rdfs:label label of HP:0020072 (Persistent EBV viremia) ; abnormality of metabolism/homeostasis ; abnormality of the immune system Persistent EBV viremia OFFICIAL Virémie EBV persistante @@ -10912,7 +10912,7 @@ HP:0030268 en fr rdfs:label label of HP:0030268 (Hyperplastic callus formation) HP:0030269 en fr rdfs:label label of HP:0030269 (Increased serum insulin-like growth factor 1) ; abnormality of the endocrine system Increased circulating insulin-like growth factor 1 concentration CANDIDATE Augmentation du taux sérique du facteur de croissance analogue à l'insuline 1 HP:0030270 en fr rdfs:label label of HP:0030270 (Elevated red cell adenosine deaminase activity) ; abnormality of metabolism/homeostasis ; abnormality of blood and blood-forming tissues Elevated red cell adenosine deaminase activity OFFICIAL Activité élevée de l'adénosine désaminase des globules rouges HP:0030271 en fr rdfs:label label of HP:0030271 (Reduced erythrocyte 2,3-diphosphoglycerate concentration) ; abnormality of blood and blood-forming tissues Reduced erythrocyte 2,3-diphosphoglycerate concentration OFFICIAL Concentration réduite de 2,3-diphosphoglycérate érythrocytaire -HP:0030272 en fr rdfs:label label of HP:0030272 (Abnormal erythrocyte enzyme activity) ; abnormality of metabolism/homeostasis ; abnormality of blood and blood-forming tissues Abnormal erythrocyte enzyme level CANDIDATE Activité enzymatique érythrocytaire anormale +HP:0030272 en fr rdfs:label label of HP:0030272 (Abnormal erythrocyte enzyme activity) ; abnormality of metabolism/homeostasis ; abnormality of blood and blood-forming tissues Abnormal erythrocyte enzyme concentration or activity CANDIDATE Activité enzymatique érythrocytaire anormale HP:0030273 en fr rdfs:label label of HP:0030273 (Reduced red cell adenosine deaminase activity) ; abnormality of metabolism/homeostasis ; abnormality of blood and blood-forming tissues Reduced red cell adenosine deaminase level CANDIDATE Activité réduite de l'adénosine désaminase du globule rouge HP:0030274 en fr rdfs:label label of HP:0030274 (Accessory scrotum) ; abnormality of the genitourinary system Accessory scrotum OFFICIAL Scrotum accessoire HP:0030275 en fr rdfs:label label of HP:0030275 (Ectopic scrotum) ; abnormality of the genitourinary system Ectopic scrotum OFFICIAL Scrotum ectopique @@ -10937,7 +10937,7 @@ HP:0030295 en fr rdfs:label label of HP:0030295 (Metaphyseal chondromatosis of f HP:0030296 en fr rdfs:label label of HP:0030296 (Metaphyseal chondromatosis of radius) ; abnormality of limbs ; abnormality of the skeletal system Metaphyseal chondromatosis of radius OFFICIAL Chondromatose métaphysaire du radius HP:0030297 en fr rdfs:label label of HP:0030297 (Metaphyseal chondromatosis of ulna) ; abnormality of limbs ; abnormality of the skeletal system Metaphyseal chondromatosis of ulna OFFICIAL Chondromatose métaphysaire du cubitus HP:0030298 en fr rdfs:label label of HP:0030298 (Metaphyseal chondromatosis of humerus) ; abnormality of limbs ; abnormality of the skeletal system Metaphyseal chondromatosis of humerus OFFICIAL Chondromatose métaphysaire de l'humérus -HP:0030299 en fr rdfs:label label of HP:0030299 (Distal femoral metaphyseal abnormality) ; abnormality of limbs ; abnormality of the skeletal system Distal femoral metaphyseal abnormality OFFICIAL Anomalie de la métaphyse du fémur distal +HP:0030299 en fr rdfs:label label of HP:0030299 (Distal femoral metaphyseal abnormality) ; abnormality of limbs ; abnormality of the skeletal system Abnormal distal femoral metaphysis morphology CANDIDATE Anomalie de la métaphyse du fémur distal HP:0030300 en fr rdfs:label label of HP:0030300 (10 pairs of ribs) ; abnormality of the skeletal system 10 pairs of ribs OFFICIAL 10 paires de côtes HP:0030301 en fr rdfs:label label of HP:0030301 (Abnormality of the anterior commissure) ; abnormality of the nervous system Abnormality of the anterior commissure OFFICIAL Anomalie de la commissure antérieure HP:0030302 en fr rdfs:label label of HP:0030302 (Agenesis of the anterior commissure) ; abnormality of the nervous system Agenesis of the anterior commissure OFFICIAL Agénésie de la commissure antérieure @@ -10985,7 +10985,7 @@ HP:0030350 en fr rdfs:label label of HP:0030350 (Erythematous papule) ; abnorma HP:0030351 en fr rdfs:label label of HP:0030351 (Urticarial plaque) ; abnormality of the integument Urticarial plaque OFFICIAL Plaque urticarienne HP:0030352 en fr rdfs:label label of HP:0030352 (Abnormal serum insulin-like growth factor 1 level) ; abnormality of the endocrine system Abnormal serum insulin-like growth factor 1 level OFFICIAL Anomalie du taux sérique du facteur de croissance analogue à l'insuline 1 (IGF1) HP:0030353 en fr rdfs:label label of HP:0030353 (Decreased serum insulin-like growth factor 1) ; abnormality of the endocrine system Decreased serum insulin-like growth factor 1 OFFICIAL Diminution du taux sérique du facteur de croissance analogue à l'insuline 1 (IGF1) -HP:0030354 en fr rdfs:label label of HP:0030354 (Abnormal serum interferon level) ; abnormality of the immune system Abnormal circulating interferon concentration CANDIDATE Taux anormal d'interféron sérique +HP:0030354 en fr rdfs:label label of HP:0030354 (Abnormal serum interferon level) ; abnormality of the immune system obsolete Abnormal circulating interferon concentration CANDIDATE Taux anormal d'interféron sérique HP:0030355 en fr rdfs:label label of HP:0030355 (Abnormal serum interferon-gamma level) ; abnormality of the immune system Abnormal circulating interferon-gamma concentration CANDIDATE Taux anormal d'interféron-gamma sérique HP:0030356 en fr rdfs:label label of HP:0030356 (Increased serum interferon-gamma level) ; abnormality of the immune system Increased circulating interferon-gamma concentration CANDIDATE Augmentation du taux d'interféron-gamma sérique HP:0030357 en fr rdfs:label label of HP:0030357 (Small cell lung carcinoma) ; abnormality of the respiratory system ; neoplasm Small cell lung carcinoma OFFICIAL Carcinome pulmonaire à petites cellules @@ -11391,7 +11391,7 @@ HP:0030778 en fr rdfs:label label of HP:0030778 (Modic type III vertebral endpla HP:0030779 en fr rdfs:label label of HP:0030779 (Ethmocephaly) ; abnormality of the nervous system Ethmocephaly OFFICIAL Ethmocéphalie HP:0030780 en fr rdfs:label label of HP:0030780 (Abnormality of the protein C anticoagulant pathway) ; abnormality of blood and blood-forming tissues Abnormality of the protein C anticoagulant pathway OFFICIAL Anomalie de la voie anticoagulante de la protéine C HP:0030781 en fr rdfs:label label of HP:0030781 (Increased circulating free fatty acid level) ; abnormality of metabolism/homeostasis Increased circulating free fatty acid level OFFICIAL Augmentation du taux d'acides gras libres circulants -HP:0030782 en fr rdfs:label label of HP:0030782 (Abnormal serum interleukin level) ; abnormality of the immune system Abnormal circulating interleukin concentration CANDIDATE Taux anormal d'interleukine sérique +HP:0030782 en fr rdfs:label label of HP:0030782 (Abnormal serum interleukin level) ; abnormality of the immune system obsolete Abnormal circulating interleukin concentration CANDIDATE Taux anormal d'interleukine sérique HP:0030783 en fr rdfs:label label of HP:0030783 (Increased serum interleukin-6) ; abnormality of the immune system Increased circulating interleukin 6 concentration CANDIDATE Augmentation de l'interleukine-6 sérique HP:0030784 en fr rdfs:label label of HP:0030784 (Anomia) ; abnormality of the nervous system Anomic aphasia CANDIDATE Anomie HP:0030785 en fr rdfs:label label of HP:0030785 (Mediastinal cystic lymphangioma) ; neoplasm ; abnormality of the immune system Mediastinal cystic lymphangioma OFFICIAL Lymphangiome kystique médiastinal @@ -11699,7 +11699,7 @@ HP:0031096 en fr rdfs:label label of HP:0031096 (Delayed vertebral ossification) HP:0031097 en fr rdfs:label label of HP:0031097 (Abnormal thyroid-stimulating hormone level) ; abnormality of the endocrine system ; abnormality of the nervous system Abnormal thyroid-stimulating hormone level OFFICIAL Taux anormal de l'hormone thyréostimulante HP:0031098 en fr rdfs:label label of HP:0031098 (Decreased thyroid-stimulating hormone level) ; abnormality of the endocrine system ; abnormality of the nervous system Decreased thyroid-stimulating hormone level OFFICIAL Diminution du taux de l'hormone thyréostimulante HP:0031099 en fr rdfs:label label of HP:0031099 (Abnormal circulating inhibin level) ; abnormality of the endocrine system Abnormal circulating inhibin level OFFICIAL Taux d'inhibine circulante anormal -HP:0031100 en fr rdfs:label label of HP:0031100 (Decreased inhibin B level) ; abnormality of the endocrine system Decreased inhibin B level OFFICIAL Diminution du taux d'inhibine B +HP:0031100 en fr rdfs:label label of HP:0031100 (Decreased inhibin B level) ; abnormality of the endocrine system Decreased circulating inhibin B concentration CANDIDATE Diminution du taux d'inhibine B HP:0031101 en fr rdfs:label label of HP:0031101 (Abnormal antimullerian hormone level) ; abnormality of the endocrine system Abnormal circulating antimullerian hormone concentration CANDIDATE Anomalie du taux d'hormone antimüllerienne HP:0031102 en fr rdfs:label label of HP:0031102 (Increased antimullerian hormone level) ; abnormality of the endocrine system Increased circulating antimullerian hormone concentration CANDIDATE Augmentation du taux d'hormone antimüllérienne HP:0031103 en fr rdfs:label label of HP:0031103 (Decreased antimullerian hormone level) ; abnormality of the endocrine system Decreased cirrculating antimullerian hormone circulation CANDIDATE Diminution du taux d'hormone antimüllérienne @@ -11732,7 +11732,7 @@ HP:0031134 en fr rdfs:label label of HP:0031134 (Cor triatrium sinister) ; abno HP:0031135 en fr rdfs:label label of HP:0031135 (Triggered by physical trauma) ; modifier Triggered by physical trauma OFFICIAL Déclenché par un traumatisme physique HP:0031136 en fr rdfs:label label of HP:0031136 (Decreased acrosin in sperm head) ; abnormality of the genitourinary system Decreased acrosin in sperm head OFFICIAL Diminution de l'acrosine dans la tête du sperme HP:0031137 en fr rdfs:label label of HP:0031137 (Storage in hepatocytes) ; abnormality of the digestive system Storage in hepatocytes OFFICIAL Stockage dans les hépatocytes -HP:0031138 en fr rdfs:label label of HP:0031138 (Abnormal B-type natriuretic peptide level) ; abnormality of metabolism/homeostasis Abnormal B-type natriuretic peptide concentration CANDIDATE Taux anormal de peptide natriurétique de type B +HP:0031138 en fr rdfs:label label of HP:0031138 (Abnormal B-type natriuretic peptide level) ; abnormality of metabolism/homeostasis Abnormal circulating B-type natriuretic peptide concentration CANDIDATE Taux anormal de peptide natriurétique de type B HP:0031139 en fr rdfs:label label of HP:0031139 (Frog-leg posture) ; abnormality of the musculature Frog-leg posture OFFICIAL Posture de la jambe de grenouille HP:0031140 en fr rdfs:label label of HP:0031140 (Abnormal liver sonography) ; abnormality of the digestive system Abnormal liver sonography OFFICIAL Échographie hépatique anormale HP:0031141 en fr rdfs:label label of HP:0031141 (Increased hepatic echogenicity) ; abnormality of the digestive system Increased hepatic echogenicity OFFICIAL Augmentation de l'échogénicité hépatique @@ -12815,7 +12815,7 @@ HP:0032268 en fr rdfs:label label of HP:0032268 (Dural tail sign) ; abnormality HP:0032269 en fr rdfs:label label of HP:0032269 (Lemon sign) ; abnormality of prenatal development or birth Lemon sign OFFICIAL Signe du citron HP:0032270 en fr rdfs:label label of HP:0032270 (Optic nerve tram-track sign) ; abnormality of the eye Optic nerve tram-track sign OFFICIAL Signe du tramway du nerf optique HP:0032271 en fr rdfs:label label of HP:0032271 (Extrapulmonary tuberculosis) ; abnormality of the immune system Extrapulmonary tuberculosis OFFICIAL Tuberculose extrapulmonaire -HP:0032272 en fr rdfs:label label of HP:0032272 (Elevated urinary N-acetylaspartic acid level) ; abnormality of metabolism/homeostasis ; abnormality of the genitourinary system Elevated urinary N-acetylaspartic acid level OFFICIAL Concentration urinaire élevée d'acide N-acétylaspartique +HP:0032272 en fr rdfs:label label of HP:0032272 (Elevated urinary N-acetylaspartic acid level) ; abnormality of metabolism/homeostasis ; abnormality of the genitourinary system obsolete Elevated urinary N-acetylaspartic acid level CANDIDATE Concentration urinaire élevée d'acide N-acétylaspartique HP:0032273 en fr rdfs:label label of HP:0032273 (Increased circulating N-Acetylaspartic acid concentration) ; abnormality of metabolism/homeostasis Increased circulating N-acetylaspartic acid concentration OFFICIAL Augmentation de la concentration circulante d'acide N-acétylaspartique HP:0032274 en fr rdfs:label label of HP:0032274 (Increased CSF N-Acetylaspartic acid concentration) ; abnormality of metabolism/homeostasis Increased CSF N-acetylaspartic acid concentration OFFICIAL Augmentation de la concentration d'acide N-acétylaspartique dans le LCR HP:0032275 en fr rdfs:label label of HP:0032275 (Recurrent shingles) ; abnormality of the immune system Recurrent shingles OFFICIAL Zona récurrent @@ -12874,7 +12874,7 @@ HP:0040053 en fr rdfs:label label of HP:0040053 (Long lower eyelashes) ; abnorm HP:0040054 en fr rdfs:label label of HP:0040054 (Short upper eyelashes) ; abnormality of the integument ; abnormality of head or neck Short upper eyelashes OFFICIAL Cils supérieurs courts HP:0040055 en fr rdfs:label label of HP:0040055 (Short lower eyelashes) ; abnormality of the integument ; abnormality of head or neck Short lower eyelashes OFFICIAL Cils inférieurs courts HP:0040056 en fr rdfs:label label of HP:0040056 (Absent upper eyelashes) ; abnormality of the integument ; abnormality of head or neck Absent upper eyelashes OFFICIAL Cils supérieurs absents -HP:0040057 en fr rdfs:label label of HP:0040057 (Abnormality of nasal hair) ; abnormality of the integument ; abnormality of head or neck Abnormality of nasal hair OFFICIAL Anomalie des poils du nez +HP:0040057 en fr rdfs:label label of HP:0040057 (Abnormality of nasal hair) ; abnormality of the integument ; abnormality of head or neck Abnormal nasal hair morphology CANDIDATE Anomalie des poils du nez HP:0040059 en fr rdfs:label label of HP:0040059 (Calcification of ribs) ; abnormality of the skeletal system Calcification of ribs OFFICIAL Calcification des côtes HP:0040061 en fr rdfs:label label of HP:0040061 (Osteosclerosis of the radius) ; abnormality of limbs ; abnormality of the skeletal system Osteosclerosis of the radius OFFICIAL Ostéosclérose du radius HP:0040062 en fr rdfs:label label of HP:0040062 (Slender radius) ; abnormality of limbs ; abnormality of the skeletal system Slender radius OFFICIAL Radius gracile @@ -12937,7 +12937,7 @@ HP:0040126 en fr rdfs:label label of HP:0040126 (Abnormal vitamin B12 level) ; HP:0040127 en fr rdfs:label label of HP:0040127 (Abnormal sweat homeostasis) ; abnormality of metabolism/homeostasis Abnormal sweat homeostasis OFFICIAL Homéostasie anormale de la sueur HP:0040128 en fr rdfs:label label of HP:0040128 (Abnormal sweat electrolytes) ; abnormality of metabolism/homeostasis Abnormal sweat electrolytes OFFICIAL Anomalie des électrolytes de la sueur HP:0040129 en fr rdfs:label label of HP:0040129 (Abnormal nerve conduction velocity) ; abnormality of the nervous system Abnormal nerve conduction velocity OFFICIAL Vitesse de conduction nerveuse anormale -HP:0040130 en fr rdfs:label label of HP:0040130 (Abnormal serum iron concentration) ; abnormality of metabolism/homeostasis Abnormal serum iron concentration OFFICIAL Taux plasmatique anormal de fer +HP:0040130 en fr rdfs:label label of HP:0040130 (Abnormal serum iron concentration) ; abnormality of metabolism/homeostasis Abnormal circulating iron concentration CANDIDATE Taux plasmatique anormal de fer HP:0040131 en fr rdfs:label label of HP:0040131 (Abnormal motor nerve conduction velocity) ; abnormality of the nervous system Abnormal motor nerve conduction velocity OFFICIAL Vitesse de conduction nerveuse motrice anormale HP:0040132 en fr rdfs:label label of HP:0040132 (Abnormal sensory nerve conduction velocity) ; abnormality of the nervous system Abnormal sensory nerve conduction velocity OFFICIAL Vitesse de conduction nerveuse sensitive anormale HP:0040133 en fr rdfs:label label of HP:0040133 (Abnormal serum ferritin) ; abnormality of metabolism/homeostasis Abnormal circulating ferritin concentration CANDIDATE Taux plasmatique anormal de ferritine @@ -12948,7 +12948,7 @@ HP:0040138 en fr rdfs:label label of HP:0040138 (Mucinous histiocytosis) ; abno HP:0040139 en fr rdfs:label label of HP:0040139 (Lipogranulomatosis) ; abnormality of metabolism/homeostasis ; abnormal cellular phenotype ; abnormality of the immune system ; abnormality of blood and blood-forming tissues Lipogranulomatosis OFFICIAL Lipogranulomatose (de Farber) HP:0040140 en fr rdfs:label label of HP:0040140 (Degeneration of the striatum) ; abnormality of the nervous system Degeneration of the striatum OFFICIAL Degenerescence du striatum HP:0040141 en fr rdfs:label label of HP:0040141 (Tardive dyskinesia) ; abnormality of the nervous system Tardive dyskinesia OFFICIAL Dyskinésie tardive -HP:0040142 en fr rdfs:label label of HP:0040142 (Reduced 5-oxoprolinase activity) ; abnormality of metabolism/homeostasis Reduced 5-oxoprolinase level CANDIDATE Diminution de l'activité 5-oxoprolinase +HP:0040142 en fr rdfs:label label of HP:0040142 (Reduced 5-oxoprolinase activity) ; abnormality of metabolism/homeostasis Reduced circulating 5-oxoprolinase activity CANDIDATE Diminution de l'activité 5-oxoprolinase HP:0040143 en fr rdfs:label label of HP:0040143 (Dystopic os odontoideum) ; abnormality of the skeletal system Dystopic os odontoideum OFFICIAL Os odontoide dystopique HP:0040144 en fr rdfs:label label of HP:0040144 (L-2-hydroxyglutaric aciduria) ; abnormality of metabolism/homeostasis ; abnormality of the genitourinary system L-2-hydroxyglutaric aciduria OFFICIAL Acidurie L-2-hydroxyglutarique HP:0040145 en fr rdfs:label label of HP:0040145 (Dicarboxylic acidemia) ; abnormality of metabolism/homeostasis Dicarboxylic acidemia OFFICIAL Acidémie dicarboxylique @@ -13105,7 +13105,7 @@ HP:0040299 en fr rdfs:label label of HP:0040299 (Decreased circulating free fatt HP:0040300 en fr rdfs:label label of HP:0040300 (Abnormal circulating free fatty acid concentration) ; abnormality of metabolism/homeostasis Abnormal circulating free fatty acid concentration OFFICIAL Anomalie des taux circulants d'acides gras libres HP:0040301 en fr rdfs:label label of HP:0040301 (Increased urinary glycerol) ; abnormality of metabolism/homeostasis ; abnormality of the genitourinary system Increased urinary glycerol OFFICIAL Augmentation urinaire de glycérol HP:0040302 en fr rdfs:label label of HP:0040302 (Hyperglycerolemia) ; abnormality of metabolism/homeostasis Hyperglycerolemia OFFICIAL Hyperglycérolemie -HP:0040303 en fr rdfs:label label of HP:0040303 (Decreased serum iron) ; abnormality of metabolism/homeostasis Decreased serum iron OFFICIAL Decreased serum iron +HP:0040303 en fr rdfs:label label of HP:0040303 (Decreased serum iron) ; abnormality of metabolism/homeostasis Decreased circulating iron concentration CANDIDATE Decreased serum iron HP:0040304 en fr rdfs:label label of HP:0040304 (Duplication of the sella turcica) ; abnormality of head or neck ; abnormality of the skeletal system Duplication of the sella turcica OFFICIAL Duplication de la selle turcique HP:0040305 en fr rdfs:label label of HP:0040305 (Increased male libido) ; abnormality of the genitourinary system Increased male libido OFFICIAL Libido masculine augmentée HP:0040306 en fr rdfs:label label of HP:0040306 (Decreased male libido) ; abnormality of the genitourinary system Decreased male libido OFFICIAL Libido masculine diminuée @@ -14113,7 +14113,7 @@ HP:0100958 en fr rdfs:label label of HP:0100958 (Narrow foramen obturatorium) ; HP:0100959 en fr rdfs:label label of HP:0100959 (Dense metaphyseal bands) ; abnormality of limbs ; abnormality of the skeletal system Dense metaphyseal bands OFFICIAL Bandes métaphysaires denses HP:0100960 en fr rdfs:label label of HP:0100960 (Asymmetric ventricles) ; abnormality of the nervous system Lateral ventricular asymmetry CANDIDATE Ventricules asymétriques HP:0100961 en fr rdfs:label label of HP:0100961 (Enlarged hippocampus) ; abnormality of the nervous system Enlarged hippocampus OFFICIAL Hippocampe élargi -HP:0100962 en fr rdfs:label label of HP:0100962 (Shyness) ; abnormality of the nervous system Shyness OFFICIAL Timidité +HP:0100962 en fr rdfs:label label of HP:0100962 (Shyness) ; abnormality of the nervous system Excessive shyness CANDIDATE Timidité HP:0100963 en fr rdfs:label label of HP:0100963 (Hyperesthesia) ; abnormality of the nervous system Hyperesthesia OFFICIAL Hyperestheésie HP:0200000 en fr rdfs:label label of HP:0200000 (Dysharmonic bone age) ; abnormality of the skeletal system Dysharmonic skeletal maturation CANDIDATE Âge osseux dysharmonieux HP:0200001 en fr rdfs:label label of HP:0200001 (Dysharmonic accelerated bone age) ; abnormality of the skeletal system Dysharmonic accelerated bone age OFFICIAL Âge osseux dysharmonieux accéléré @@ -14334,13 +14334,13 @@ HP:0410188 en fr rdfs:label label of HP:0410188 (Decreased glucose-6-phosphate d HP:0410189 en fr rdfs:label label of HP:0410189 (Increased glucose-6-phosphate dehydrogenase level in red blood cells) ; abnormality of metabolism/homeostasis Increased glucose-6-phosphate dehydrogenase level in red blood cells OFFICIAL Augmentation du taux de glucose-6-phosphate déshydrogénase dans les globules rouges HP:0410190 en fr rdfs:label label of HP:0410190 (Decreased glucose-6-phosphate dehydrogenase level in leukocytes) ; abnormality of metabolism/homeostasis Decreased glucose-6-phosphate dehydrogenase level in leukocytes OFFICIAL Diminution du taux de glucose-6-phosphate déshydrogénase dans les leucocytes HP:0410191 en fr rdfs:label label of HP:0410191 (Increased glucose-6-phosphate dehydrogenase level in leukocytes) ; abnormality of metabolism/homeostasis Increased glucose-6-phosphate dehydrogenase level in leukocytes OFFICIAL Augmentation du taux de glucose-6-phosphate déshydrogénase dans les leucocytes -HP:0410192 en fr rdfs:label label of HP:0410192 (Abnormal uridine diphosphate glucose-4-epimerase activity) ; abnormality of metabolism/homeostasis Abnormal uridine diphosphate glucose-4-epimerase level CANDIDATE Activité anormale de l'uridine diphosphate glucose-4-épimérase -HP:0410193 en fr rdfs:label label of HP:0410193 (Abnormal uridine diphosphate glucose-4-epimerase activity in plasma) ; abnormality of metabolism/homeostasis Abnormal uridine diphosphate glucose-4-epimerase level in plasma CANDIDATE Activité anormale de l'uridine diphosphate glucose-4-épimérase dans le plasma -HP:0410194 en fr rdfs:label label of HP:0410194 (Increased uridine diphosphate glucose-4-epimerase activity in plasma) ; abnormality of metabolism/homeostasis Increased uridine diphosphate glucose-4-epimerase level in plasma CANDIDATE Augmentation de l'activité uridine diphosphate glucose-4-épimérase dans le plasma -HP:0410195 en fr rdfs:label label of HP:0410195 (Decreased uridine diphosphate glucose-4-epimerase activity in plasma) ; abnormality of metabolism/homeostasis Decreased uridine diphosphate glucose-4-epimerase level in plasma CANDIDATE Diminution de l'activité uridine diphosphate glucose-4-épimérase dans le plasma -HP:0410196 en fr rdfs:label label of HP:0410196 (Abnormal uridine diphosphate glucose-4-epimerase activity in red blood cells) ; abnormality of metabolism/homeostasis Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells CANDIDATE Activité anormale de l'uridine diphosphate glucose-4-épimérase dans les globules rouges. -HP:0410197 en fr rdfs:label label of HP:0410197 (Increased uridine diphosphate glucose-4-epimerase activity in red blood cells) ; abnormality of metabolism/homeostasis Increased uridine diphosphate glucose-4-epimerase level in red blood cells CANDIDATE Augmentation de l'activité de l'uridine diphosphate glucose-4-épimérase dans les globules rouges. -HP:0410198 en fr rdfs:label label of HP:0410198 (Decreased uridine diphosphate glucose-4-epimerase activity in red blood cells) ; abnormality of metabolism/homeostasis Decreased uridine diphosphate glucose-4-epimerase level in red blood cells CANDIDATE Diminution de l'activité uridine diphosphate glucose-4-épimérase dans les globules rouges. +HP:0410192 en fr rdfs:label label of HP:0410192 (Abnormal uridine diphosphate glucose-4-epimerase activity) ; abnormality of metabolism/homeostasis obsolete Abnormal uridine diphosphate glucose-4-epimerase level CANDIDATE Activité anormale de l'uridine diphosphate glucose-4-épimérase +HP:0410193 en fr rdfs:label label of HP:0410193 (Abnormal uridine diphosphate glucose-4-epimerase activity in plasma) ; abnormality of metabolism/homeostasis Abnormal circulating UDP glucose-4-epimerase concentration CANDIDATE Activité anormale de l'uridine diphosphate glucose-4-épimérase dans le plasma +HP:0410194 en fr rdfs:label label of HP:0410194 (Increased uridine diphosphate glucose-4-epimerase activity in plasma) ; abnormality of metabolism/homeostasis Increased circulating UDP glucose-4-epimerase concentration CANDIDATE Augmentation de l'activité uridine diphosphate glucose-4-épimérase dans le plasma +HP:0410195 en fr rdfs:label label of HP:0410195 (Decreased uridine diphosphate glucose-4-epimerase activity in plasma) ; abnormality of metabolism/homeostasis Decreased circulating UDP glucose-4-epimerase concentration CANDIDATE Diminution de l'activité uridine diphosphate glucose-4-épimérase dans le plasma +HP:0410196 en fr rdfs:label label of HP:0410196 (Abnormal uridine diphosphate glucose-4-epimerase activity in red blood cells) ; abnormality of metabolism/homeostasis Abnormal erythrocyte UDP glucose-4-epimerase concentration CANDIDATE Activité anormale de l'uridine diphosphate glucose-4-épimérase dans les globules rouges. +HP:0410197 en fr rdfs:label label of HP:0410197 (Increased uridine diphosphate glucose-4-epimerase activity in red blood cells) ; abnormality of metabolism/homeostasis Increased erythrocyte UDP glucose-4-epimerase concentration CANDIDATE Augmentation de l'activité de l'uridine diphosphate glucose-4-épimérase dans les globules rouges. +HP:0410198 en fr rdfs:label label of HP:0410198 (Decreased uridine diphosphate glucose-4-epimerase activity in red blood cells) ; abnormality of metabolism/homeostasis Decreased erythrocyte UDP glucose-4-epimerase concentration CANDIDATE Diminution de l'activité uridine diphosphate glucose-4-épimérase dans les globules rouges. HP:0410199 en fr rdfs:label label of HP:0410199 (Increased CSF urate concentration) ; abnormality of the nervous system Increased CSF urate concentration OFFICIAL Augmentation de la concentration d'urate dans le LCR HP:0410200 en fr rdfs:label label of HP:0410200 (Positive meconium barbiturate test) ; abnormality of metabolism/homeostasis Positive meconium barbiturate test OFFICIAL Test de dépistage aux barbituriques positif dans le méconium HP:0410201 en fr rdfs:label label of HP:0410201 (Positive hair barbiturate test) ; abnormality of metabolism/homeostasis Positive hair barbiturate test OFFICIAL Test de dépistage positif aux barbituriques dans les cheveux @@ -14617,7 +14617,7 @@ HP:0550004 en fr rdfs:label label of HP:0550004 (Verruca plana) ; abnormality o HP:0550005 en fr rdfs:label label of HP:0550005 (Bilateral basilar pulmonary fibrosis) ; abnormality of the respiratory system Bilateral basilar pulmonary fibrosis OFFICIAL Fibrose pulmonaire basilaire bilatérale HP:3000002 en fr rdfs:label label of HP:3000002 (Abnormal inner ear epithelium morphology) ; abnormality of the ear Abnormal inner ear epithelium morphology OFFICIAL Anomalie de la morphologie de l'épithélium de l'oreille interne HP:3000003 en fr rdfs:label label of HP:3000003 (Abnormal mandibular ramus morphology) ; abnormality of head or neck ; abnormality of the skeletal system Abnormal mandibular ramus morphology OFFICIAL Anomalie de la morphologie de la branche mandibulaire -HP:3000004 en fr rdfs:label label of HP:3000004 (Abnormality of frontalis muscle belly) ; abnormality of the musculature ; abnormality of head or neck Abnormality of frontalis muscle belly OFFICIAL Anomalie du corps du muscle frontal +HP:3000004 en fr rdfs:label label of HP:3000004 (Abnormality of frontalis muscle belly) ; abnormality of the musculature ; abnormality of head or neck Abnormal frontalis muscle physiology CANDIDATE Anomalie du corps du muscle frontal HP:3000005 en fr rdfs:label label of HP:3000005 (Abnormality of masseter muscle) ; abnormality of the musculature ; abnormality of head or neck Abnormality of masseter muscle OFFICIAL Anomalie du muscle masséter HP:3000006 en fr rdfs:label label of HP:3000006 (Abnormality of medial pterygoid muscle) ; abnormality of the musculature ; abnormality of head or neck Abnormality of medial pterygoid muscle OFFICIAL Anomalie du muscle ptérygoïdien médian HP:3000007 en fr rdfs:label label of HP:3000007 (Abnormality of mentalis muscle) ; abnormality of the musculature ; abnormality of head or neck Abnormality of mentalis muscle OFFICIAL Anomalie du muscle mentonnier diff --git a/src/translations/hp-fr.babelon.owl b/src/translations/hp-fr.babelon.owl index 9420d0ca4..c9a9be44d 100644 --- a/src/translations/hp-fr.babelon.owl +++ b/src/translations/hp-fr.babelon.owl @@ -11,8 +11,8 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:babelon="https://w3id.org/babelon/"> - - 2024-03-06 + + 2024-04-03 @@ -7486,9 +7486,9 @@ Anomalie des choanes label of HP:0000415 (Abnormality of the choanae) ; abnormality of head or neck en - Abnormality of the choanae + Abnormal choanae morphology fr - OFFICIAL + CANDIDATE Nez mince @@ -9716,9 +9716,9 @@ Une coloration jaune pâle du disque optique (zone de la tête du nerf optique dans la rétine). Le disque optique a normalement une teinte rosée avec une dépression centrale jaunâtre. definition of HP:0000543 (Optic disc pallor) ; abnormality of the eye en - A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. + A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. fr - OFFICIAL + CANDIDATE @@ -12322,7 +12322,7 @@ Stéréotypie label of HP:0000733 (Stereotypy) ; abnormality of the nervous system en - Abnormal repetitive mannerisms + Motor stereotypy fr CANDIDATE @@ -23077,9 +23077,9 @@ Hémoglobine augmentée label of HP:0001900 (Increased hemoglobin) ; abnormality of blood and blood-forming tissues en - Increased hemoglobin + Increased circulating hemoglobin concentration fr - OFFICIAL + CANDIDATE Polycythémie @@ -31144,9 +31144,9 @@ Fente labiale/palatine bilatérale label of HP:0002744 (Bilateral cleft lip and palate) ; abnormality of head or neck en - Bilateral cleft lip and palate + obsolete Bilateral cleft lip and palate fr - OFFICIAL + CANDIDATE Leucoplasie orale @@ -37618,9 +37618,9 @@ Augmentation du fer serique label of HP:0003452 (Increased serum iron) ; abnormality of metabolism/homeostasis en - Increased serum iron + Increased circulating iron concentration fr - OFFICIAL + CANDIDATE Positivité des anticorps anti-neutrophiles @@ -38931,7 +38931,7 @@ Activité réduite de la 4-hydroxyphénylpyruvate dioxygénase label of HP:0003637 (Reduced 4-Hydroxyphenylpyruvate dioxygenase activity) ; abnormality of metabolism/homeostasis en - Reduced 4-Hydroxyphenylpyruvate dioxygenase level + Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity fr CANDIDATE @@ -45791,9 +45791,9 @@ Déficit en complément label of HP:0004431 (Complement deficiency) ; abnormality of the immune system en - Complement deficiency + Reduced circulating complement concentration fr - OFFICIAL + CANDIDATE Agammaglobulinémie @@ -52081,9 +52081,9 @@ Anomalie de la région nasolabiale label of HP:0005289 (Abnormality of the nasolabial region) ; abnormality of head or neck en - Abnormality of the nasolabial region + Abnormal nasolabial region morphology fr - OFFICIAL + CANDIDATE Hypoplasie de l'artère carotide interne @@ -60037,9 +60037,9 @@ Larges métaphyses fémorales label of HP:0006417 (Broad femoral metaphyses) ; abnormality of limbs ; abnormality of the skeletal system en - Broad femoral metaphyses + Wide femoral metaphysis fr - OFFICIAL + CANDIDATE Dysplasie radiale asymétrique @@ -60115,9 +60115,9 @@ Anomalies métaphysaires des fémurs proximaux label of HP:0006431 (Proximal femoral metaphyseal abnormality) ; abnormality of limbs ; abnormality of the skeletal system en - Proximal femoral metaphyseal abnormality + Abnormal proximal femoral metaphysis morphology fr - OFFICIAL + CANDIDATE Condyles fémoraux distaux trapézoïdaux @@ -74855,9 +74855,9 @@ Dégénérescence des disques intervertébraux label of HP:0008419 (Intervertebral disc degeneration) ; abnormality of the skeletal system en - Intervertebral disc degeneration + Intervertebral disk degeneration fr - OFFICIAL + CANDIDATE calcifications vertébrales ponctuées @@ -75687,9 +75687,9 @@ Absence de dentition permanente label of HP:0008498 (No permanent dentition) ; abnormality of head or neck en - No permanent dentition + obsolete No permanent dentition fr - OFFICIAL + CANDIDATE Hypermétropie sévère @@ -75713,9 +75713,9 @@ Fente labiale/palatine médiane label of HP:0008501 (Median cleft lip and palate) ; abnormality of head or neck en - Median cleft lip and palate + obsolete Median cleft lip and palate fr - OFFICIAL + CANDIDATE Déficit auditif neurosensoriel modéré @@ -76363,9 +76363,9 @@ Hypertrophie de la vessie urinaire label of HP:0008635 (Hypertrophy of the urinary bladder) ; abnormality of the genitourinary system en - Hypertrophy of the urinary bladder + Urinary bladder wall hypertrophy fr - OFFICIAL + CANDIDATE Glomérulopathie lobulaire @@ -85268,9 +85268,9 @@ neurofibromes occasionnels label of HP:0009595 (Occasional neurofibromas) ; abnormality of the nervous system ; abnormality of the integument ; neoplasm en - Occasional neurofibromas + obsolete Occasional neurofibromas fr - OFFICIAL + CANDIDATE Aplasie de la première phalange de l'index @@ -88982,9 +88982,9 @@ Persistance de l'artère hyaloïde label of HP:0009922 (Vascular remnant arising from the disc) ; abnormality of the eye en - Vascular remnant arising from the disc + Vascular remnant arising from the disk fr - OFFICIAL + CANDIDATE Aplasie/hypoplasie impliquant le nez @@ -97276,9 +97276,9 @@ Épiphyses triangulaires label of HP:0010587 (Triangular epiphyses) ; abnormality of the skeletal system en - Triangular epiphyses + Triangular epiphysis fr - OFFICIAL + CANDIDATE fusion épimétaphysaire prématurée @@ -97913,9 +97913,9 @@ Anomalie de la fosse nasale label of HP:0010640 (Abnormality of the nasal cavity) ; abnormality of head or neck en - Abnormality of the nasal cavity + Abnormal nasal cavity morphology fr - OFFICIAL + CANDIDATE Anomalie de la cavité nasale médiane @@ -103750,9 +103750,9 @@ Anomalie du taux de cytokines sériques label of HP:0011112 (Abnormality of serum cytokine level) ; abnormality of the immune system en - Abnormality of serum cytokine level + Abnormal circulating cytokine concentration fr - OFFICIAL + CANDIDATE Anomalie de la sécrétion de la cytokine @@ -103789,9 +103789,9 @@ Anomalie de sécrétion des chémokines label of HP:0011115 (Abnormality of chemokine secretion) ; abnormality of the immune system en - Abnormality of chemokine secretion + Abnormal circulating chemokine concentration fr - OFFICIAL + CANDIDATE Anomalie de sécrétion des interférons @@ -103802,9 +103802,9 @@ Anomalie de sécrétion des interférons label of HP:0011116 (Abnormality of interferon secretion) ; abnormality of the immune system en - Abnormality of interferon secretion + Abnormal circulating interferon concentration fr - OFFICIAL + CANDIDATE Anomalie de sécrétion des interleukines @@ -103815,9 +103815,9 @@ Anomalie de sécrétion des interleukines label of HP:0011117 (Abnormality of interleukin secretion) ; abnormality of the immune system en - Abnormality of interleukin secretion + Abnormal circulating interleukin concentration fr - OFFICIAL + CANDIDATE Anomalie de sécrétion du facteur de nécrose tumorale @@ -121753,7 +121753,7 @@ Activité réduite de la catalase label of HP:0012517 (Reduced catalase activity) ; abnormality of metabolism/homeostasis en - Reduced catalase level + Reduced circulating catalase activity fr CANDIDATE @@ -127127,9 +127127,9 @@ Augmentation de la concentration d'hémoglobine label of HP:0020063 (Increased hemoglobin concentration) ; abnormality of blood and blood-forming tissues en - Increased hemoglobin concentration + obsolete Increased hemoglobin concentration fr - OFFICIAL + CANDIDATE Numération anormale des éosinophiles @@ -138032,7 +138032,7 @@ Activité enzymatique érythrocytaire anormale label of HP:0030272 (Abnormal erythrocyte enzyme activity) ; abnormality of metabolism/homeostasis ; abnormality of blood and blood-forming tissues en - Abnormal erythrocyte enzyme level + Abnormal erythrocyte enzyme concentration or activity fr CANDIDATE @@ -138357,9 +138357,9 @@ Anomalie de la métaphyse du fémur distal label of HP:0030299 (Distal femoral metaphyseal abnormality) ; abnormality of limbs ; abnormality of the skeletal system en - Distal femoral metaphyseal abnormality + Abnormal distal femoral metaphysis morphology fr - OFFICIAL + CANDIDATE 10 paires de côtes @@ -138981,7 +138981,7 @@ Taux anormal d'interféron sérique label of HP:0030354 (Abnormal serum interferon level) ; abnormality of the immune system en - Abnormal circulating interferon concentration + obsolete Abnormal circulating interferon concentration fr CANDIDATE @@ -144253,7 +144253,7 @@ Taux anormal d'interleukine sérique label of HP:0030782 (Abnormal serum interleukin level) ; abnormality of the immune system en - Abnormal circulating interleukin concentration + obsolete Abnormal circulating interleukin concentration fr CANDIDATE @@ -148251,9 +148251,9 @@ Diminution du taux d'inhibine B label of HP:0031100 (Decreased inhibin B level) ; abnormality of the endocrine system en - Decreased inhibin B level + Decreased circulating inhibin B concentration fr - OFFICIAL + CANDIDATE Anomalie du taux d'hormone antimüllerienne @@ -148680,7 +148680,7 @@ Taux anormal de peptide natriurétique de type B label of HP:0031138 (Abnormal B-type natriuretic peptide level) ; abnormality of metabolism/homeostasis en - Abnormal B-type natriuretic peptide concentration + Abnormal circulating B-type natriuretic peptide concentration fr CANDIDATE @@ -162759,9 +162759,9 @@ Concentration urinaire élevée d'acide N-acétylaspartique label of HP:0032272 (Elevated urinary N-acetylaspartic acid level) ; abnormality of metabolism/homeostasis ; abnormality of the genitourinary system en - Elevated urinary N-acetylaspartic acid level + obsolete Elevated urinary N-acetylaspartic acid level fr - OFFICIAL + CANDIDATE Augmentation de la concentration circulante d'acide N-acétylaspartique @@ -163526,9 +163526,9 @@ Anomalie des poils du nez label of HP:0040057 (Abnormality of nasal hair) ; abnormality of the integument ; abnormality of head or neck en - Abnormality of nasal hair + Abnormal nasal hair morphology fr - OFFICIAL + CANDIDATE Calcification des côtes @@ -164345,9 +164345,9 @@ Taux plasmatique anormal de fer label of HP:0040130 (Abnormal serum iron concentration) ; abnormality of metabolism/homeostasis en - Abnormal serum iron concentration + Abnormal circulating iron concentration fr - OFFICIAL + CANDIDATE Vitesse de conduction nerveuse motrice anormale @@ -164488,7 +164488,7 @@ Diminution de l'activité 5-oxoprolinase label of HP:0040142 (Reduced 5-oxoprolinase activity) ; abnormality of metabolism/homeostasis en - Reduced 5-oxoprolinase level + Reduced circulating 5-oxoprolinase activity fr CANDIDATE @@ -166525,9 +166525,9 @@ Decreased serum iron label of HP:0040303 (Decreased serum iron) ; abnormality of metabolism/homeostasis en - Decreased serum iron + Decreased circulating iron concentration fr - OFFICIAL + CANDIDATE Duplication de la selle turcique @@ -179617,9 +179617,9 @@ Timidité label of HP:0100962 (Shyness) ; abnormality of the nervous system en - Shyness + Excessive shyness fr - OFFICIAL + CANDIDATE Hyperestheésie @@ -182490,7 +182490,7 @@ Activité anormale de l'uridine diphosphate glucose-4-épimérase label of HP:0410192 (Abnormal uridine diphosphate glucose-4-epimerase activity) ; abnormality of metabolism/homeostasis en - Abnormal uridine diphosphate glucose-4-epimerase level + obsolete Abnormal uridine diphosphate glucose-4-epimerase level fr CANDIDATE @@ -182503,7 +182503,7 @@ Activité anormale de l'uridine diphosphate glucose-4-épimérase dans le plasma label of HP:0410193 (Abnormal uridine diphosphate glucose-4-epimerase activity in plasma) ; abnormality of metabolism/homeostasis en - Abnormal uridine diphosphate glucose-4-epimerase level in plasma + Abnormal circulating UDP glucose-4-epimerase concentration fr CANDIDATE @@ -182516,7 +182516,7 @@ Augmentation de l'activité uridine diphosphate glucose-4-épimérase dans le plasma label of HP:0410194 (Increased uridine diphosphate glucose-4-epimerase activity in plasma) ; abnormality of metabolism/homeostasis en - Increased uridine diphosphate glucose-4-epimerase level in plasma + Increased circulating UDP glucose-4-epimerase concentration fr CANDIDATE @@ -182529,7 +182529,7 @@ Diminution de l'activité uridine diphosphate glucose-4-épimérase dans le plasma label of HP:0410195 (Decreased uridine diphosphate glucose-4-epimerase activity in plasma) ; abnormality of metabolism/homeostasis en - Decreased uridine diphosphate glucose-4-epimerase level in plasma + Decreased circulating UDP glucose-4-epimerase concentration fr CANDIDATE @@ -182542,7 +182542,7 @@ Activité anormale de l'uridine diphosphate glucose-4-épimérase dans les globules rouges. label of HP:0410196 (Abnormal uridine diphosphate glucose-4-epimerase activity in red blood cells) ; abnormality of metabolism/homeostasis en - Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells + Abnormal erythrocyte UDP glucose-4-epimerase concentration fr CANDIDATE @@ -182555,7 +182555,7 @@ Augmentation de l'activité de l'uridine diphosphate glucose-4-épimérase dans les globules rouges. label of HP:0410197 (Increased uridine diphosphate glucose-4-epimerase activity in red blood cells) ; abnormality of metabolism/homeostasis en - Increased uridine diphosphate glucose-4-epimerase level in red blood cells + Increased erythrocyte UDP glucose-4-epimerase concentration fr CANDIDATE @@ -182568,7 +182568,7 @@ Diminution de l'activité uridine diphosphate glucose-4-épimérase dans les globules rouges. label of HP:0410198 (Decreased uridine diphosphate glucose-4-epimerase activity in red blood cells) ; abnormality of metabolism/homeostasis en - Decreased uridine diphosphate glucose-4-epimerase level in red blood cells + Decreased erythrocyte UDP glucose-4-epimerase concentration fr CANDIDATE @@ -186169,9 +186169,9 @@ Anomalie du corps du muscle frontal label of HP:3000004 (Abnormality of frontalis muscle belly) ; abnormality of the musculature ; abnormality of head or neck en - Abnormality of frontalis muscle belly + Abnormal frontalis muscle physiology fr - OFFICIAL + CANDIDATE Anomalie du muscle masséter diff --git a/src/translations/hp-fr.synonyms.owl b/src/translations/hp-fr.synonyms.owl index fe6e681c2..6669ccc17 100644 --- a/src/translations/hp-fr.synonyms.owl +++ b/src/translations/hp-fr.synonyms.owl @@ -8,8 +8,8 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - - 2024-03-06 + + 2024-04-03 diff --git a/src/translations/hp-ja-changed.babelon.tsv b/src/translations/hp-ja-changed.babelon.tsv index cd7af53b3..0c6840e95 100644 --- a/src/translations/hp-ja-changed.babelon.tsv +++ b/src/translations/hp-ja-changed.babelon.tsv @@ -5,6 +5,8 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0000056 rdfs:label Abnormality of the clitoris 陰核異常 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0000161 rdfs:label Median cleft lip 正中口唇裂 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0000372 rdfs:label Abnormality of the auditory canal 耳道の異常 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0000415 rdfs:label Abnormality of the choanae 後鼻孔の異常 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0000733 rdfs:label Abnormal repetitive mannerisms 常同行動 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0000735 rdfs:label Impaired social interactions 社会的相互作用障害 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0000746 rdfs:label Delusions 妄想 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0000923 rdfs:label Beaded ribs 数珠状肋骨 2023-07-31 1.0 EXACT OFFICIAL @@ -15,6 +17,7 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0001388 rdfs:label Joint laxity 関節指間 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0001430 rdfs:label Abnormality of the calf musculature 腓腹筋の異常 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0001441 rdfs:label Abnormality of the musculature of the thigh 大腿の筋異常 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0001900 rdfs:label Increased hemoglobin ヘモグロビン増加 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0002006 rdfs:label Facial cleft 顔面裂 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0002062 rdfs:label Morphological abnormality of the pyramidal tract 錐体路の形態異常 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0002151 rdfs:label Increased serum lactate 血清乳酸増加 2023-07-31 1.0 EXACT OFFICIAL @@ -24,6 +27,7 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0002461 rdfs:label Dense calcifications in the cerebellar dentate nucleus 小脳歯状核の濃い石灰化 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0002492 rdfs:label Morphological abnormality of the corticospinal tract 皮質脊髄路の異常 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0002519 rdfs:label Hypnagogic hallucinations 入眠時幻覚 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0002744 rdfs:label Bilateral cleft lip and palate 両側性口唇口蓋裂 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0002761 rdfs:label Generalized joint laxity 全身性関節弛緩 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0002813 rdfs:label Abnormality of limb bone morphology 四肢骨形態の異常 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0002823 rdfs:label Abnormality of femur morphology 大腿骨の異常 2023-07-31 1.0 EXACT OFFICIAL @@ -35,20 +39,26 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0003223 rdfs:label Decreased methylcobalamin メチルコバラミンの減少 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0003234 rdfs:label Decreased plasma carnitine 血漿カルニチン減少 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0003262 rdfs:label Smooth muscle antibody positivity 平滑筋 抗体陽性 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0003452 rdfs:label Increased serum iron 血清鉄増加 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0003637 rdfs:label Reduced 4-Hydroxyphenylpyruvate dioxygenase level 4-Hydroxyphenylpyruvate dioxygenase 活性減少 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0003741 rdfs:label Congenital muscular dystrophy 先天性筋ジストロフィー 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0003839 rdfs:label Abnormality of upper limb epiphysis morphology 上肢骨端の異常 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0004362 rdfs:label Abnormality of enteric ganglion morphology 腸神経節の異常 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0004372 rdfs:label Reduced consciousness/confusion 意識減少/混乱 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0004431 rdfs:label Complement deficiency 補体欠乏症 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0004466 rdfs:label Prolonged brainstem auditory evoked potentials 遷延性脳幹聴性誘発反応 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0004905 rdfs:label Low levels of vitamin A ビタミンA欠乏症 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0005019 rdfs:label Diaphyseal thickening 骨幹の肥厚 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0005072 rdfs:label Hyperextensibility at wrists 手関節過伸展 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0005289 rdfs:label Abnormality of the nasolabial region 鼻唇領域の異常 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0005561 rdfs:label Abnormality of bone marrow cell morphology 骨髄細胞形態の異常 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0005579 rdfs:label Impaired renal ltubular reabsorption of chloride クロール腎尿細管再吸収障害 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0005692 rdfs:label Joint hyperflexibility 関節過伸展 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0005984 rdfs:label Elevated maternal serum alpha-fetoprotein 母体血清α-フェトプロテイン上昇 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0006153 rdfs:label Disharmonious carpal bone 手根骨不調和 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0006344 rdfs:label Abnormality of primary molar morphology 永久歯臼歯形態の異常 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0006417 rdfs:label Broad femoral metaphyses 幅広い大腿骨骨幹端 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0006431 rdfs:label Proximal femoral metaphyseal abnormality 遠位および近位大腿骨の骨幹端異常 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0006477 rdfs:label Abnormality of the alveolar ridges 歯槽隆起の異常 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0006482 rdfs:label Abnormality of dental morphology 歯形態異常 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0006500 rdfs:label Abnormality of lower limb epiphysis morphology 下肢骨端の異常 2023-07-31 1.0 EXACT OFFICIAL @@ -62,14 +72,22 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008326 rdfs:label Reduced circulating vitamin B6 level ビタミンB6欠乏症 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008372 rdfs:label Abnormality of vitamin A metabolism ビタミンA代謝の異常 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008376 rdfs:label Nasal, dysarthic speech 鼻声の構音障害性発語 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008419 rdfs:label Intervertebral disc degeneration 椎間板変性 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008498 rdfs:label No permanent dentition 永久歯完全欠損 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008501 rdfs:label Median cleft lip and palate 正中口唇口蓋裂 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008572 rdfs:label External ear malformation 外耳奇形 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008609 rdfs:label Morphological abnormality of the middle ear 中耳の形態異常 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008635 rdfs:label Hypertrophy of the urinary bladder 膀胱肥大 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008636 rdfs:label Lobular glomerulopathy 小葉性糸球体症 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008765 rdfs:label Auditory hallucinations 聴覚幻覚 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008768 rdfs:label Inappropriate sexual behavior 不適切な性的行動 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0009380 rdfs:label Aplasia of the fingers 指無形成 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0009595 rdfs:label Occasional neurofibromas 時たまの神経線維腫 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0009922 rdfs:label Vascular remnant arising from the disc 硝子体動脈遺残 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0010524 rdfs:label Agnosia 認知不能 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0010527 rdfs:label Astereognosia 立体感覚失認症 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0010587 rdfs:label Triangular epiphyses 三角形の骨端 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0010640 rdfs:label Abnormality of the nasal cavity 鼻腔の異常 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0010663 rdfs:label Abnormality of thalamus morphology 視床形態の異常 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0010790 rdfs:label Hyoplasia of the Leydig cells Leydig 細胞低形成 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0010827 rdfs:label Abnormality of the seventh cranial nerve 第7脳神経の異常 2023-07-31 1.0 EXACT OFFICIAL @@ -79,6 +97,10 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0011021 rdfs:label Abnormality of circulating enzyme level 循環性酵素値の異常 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0011071 rdfs:label Abnormality of permanent molar morphology 永久歯臼歯形態の異常 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0011111 rdfs:label Abnormality of immune serum protein physiology 免疫血清タンパク生理の異常 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0011112 rdfs:label Abnormality of serum cytokine level 血清サイトカイン値の異常 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0011115 rdfs:label Abnormality of chemokine secretion ケモカイン分泌の異常 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0011116 rdfs:label Abnormality of interferon secretion インターフェロン分泌の異常 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0011117 rdfs:label Abnormality of interleukin secretion インターロイキン分泌の異常 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0011121 rdfs:label Abnormality of skin morphology 皮膚形態の異常 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0011138 rdfs:label Abnormality of skin adnexa morphology 皮膚付属器の異常 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0011278 rdfs:label Intrapulmonary sequestration 肺内分画症 2023-07-31 1.0 EXACT OFFICIAL @@ -99,8 +121,12 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0012380 rdfs:label Reduced carnitine O-palmitoyltransferase level carnitine O-palmitoyltransferase 活性減少 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0012434 rdfs:label Delayed social development 社会性の発達遅延 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0012443 rdfs:label Abnormality of brain morphology 脳形態の異常 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0012517 rdfs:label Reduced catalase level カタラーゼ活性減少 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0012718 rdfs:label Morphological abnormality of the gastrointestinal tract 胃腸管の形態異常 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0020063 rdfs:label Increased hemoglobin concentration ヘモグロビン濃度の上昇 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0020152 rdfs:label Distal joint laxity 遠位関節弛緩症 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0020175 rdfs:label Reduced cholinesterase level コリンエステラーゼ値の低下 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0020202 rdfs:label Abnormal Z disc morphology Zディスク形態異常 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0025028 rdfs:label Abnormality of enteric nervous system morphology 腸神経系の形態異常 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0025029 rdfs:label Abnormality of enteric neuron morphology 腸神経細胞の形態異常 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0025033 rdfs:label Abnormality of digestive system morphology 消化器系の形態異常 2023-07-31 EXACT OFFICIAL @@ -117,20 +143,28 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0025487 rdfs:label Abnormality of bladder morphology 膀胱形態異常 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030223 rdfs:label Manifestations of perseverative thought or action 根気強い思考または行動の表出 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030270 rdfs:label Elevated red cell adenosine deaminase level 赤血球アデノシンデアミナーゼ値の上昇 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030272 rdfs:label Abnormal erythrocyte enzyme level 赤血球酵素濃度異常 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030299 rdfs:label Distal femoral metaphyseal abnormality 大腿骨遠位骨幹部異常症 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030354 rdfs:label Abnormal circulating interferon concentration 循環インターフェロン濃度異常 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030508 rdfs:label Retinal cavernous hemangioma 網膜海綿状血管腫 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030680 rdfs:label Abnormality of cardiovascular system morphology 循環器系の形態異常 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030782 rdfs:label Abnormal circulating interleukin concentration 循環インターロイキン濃度異常 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030935 rdfs:label Abnormality of intestinal smooth muscle morphology 腸管平滑筋の形態異常 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030955 rdfs:label Alcoholism アルコール中毒 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0031029 rdfs:label Elevated carcinoembryonic antigen level カルチノエンブリオニック抗原高値 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0031039 rdfs:label Early spermatogenesis maturation arrest 初期精子形成成熟停止 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0031085 rdfs:label Decreased prealbumin level プレアルブミン値の低下 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0031100 rdfs:label Decreased inhibin B level インヒビンB値の低下 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0031138 rdfs:label Abnormal B-type natriuretic peptide concentration B型ナトリウム利尿ペプチド濃度の異常 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0031469 rdfs:label Low self esteem 低い自尊心 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0031472 rdfs:label Risk taking 危険を冒す 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0031906 rdfs:label Decreased total hemolytic complement activity 総溶血性補体活性の低下 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0032025 rdfs:label Reduced serum alpha-1-antitrypsin 血清中α-1-アンチトリプシンの低下 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0032272 rdfs:label Elevated urinary N-acetylaspartic acid level 尿中N-アセチルアスパラギン酸値の上昇 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0032476 rdfs:label Abnormal circulating vitamin B6 level 循環ビタミンB6値異常 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0032477 rdfs:label Elevated circulating vitamin B6 level 循環ビタミンB6値の上昇 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0032514 rdfs:label Duplicated lacrimal punctum 涙点重複症 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0032530 rdfs:label Decreased succinic semialdehyde dehydrogenase level コハク酸セミアルデヒド脱水素酵素値の低下 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0032940 rdfs:label Dissociative reaction 解離反応 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0033052 rdfs:label Psychogenic non-epileptic seizure 心因性非てんかん発作 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0033063 rdfs:label Shortened sleep cycle 睡眠周期の短縮 2023-07-31 EXACT OFFICIAL @@ -163,7 +197,9 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0034933 rdfs:label Increased circulating ribitol concentration 循環リビトール濃度の上昇 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0034983 rdfs:label Phenylephrine does not induce blanching of eye redness フェニレフリンは眼充血の白化を誘発しない 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0034994 rdfs:label Elevated circulating saccharopine concentration 循環サッカロピン濃度の上昇 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0034995 rdfs:label Reduced hepatic fructose-1,6-bisphosphatase activity 肝フルクトース-1,6-ビスホスファターゼ活性の低下 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0034996 rdfs:label Reduced hepatic carbamoylphosphate synthetase activity 肝カルバモイルリン酸合成酵素活性の低下 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040057 rdfs:label Abnormality of nasal hair 鼻毛の異常 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040090 rdfs:label Abnormality of the tympanic membrane 鼓膜の異常 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040106 rdfs:label Morphological abnormality of the lateral semicircular canal 外半規管の形態異常 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040107 rdfs:label Morphological abnormality of the posterior semicircular canal 後半規管の形態異常 2023-07-31 EXACT OFFICIAL @@ -171,8 +207,11 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040109 rdfs:label Morphological abnormality of the utricle 僧帽弁の形態学的異常 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040110 rdfs:label Morphological abnormality of the saccule 仙骨の形態学的異常 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040126 rdfs:label Abnormal vitamin B12 level ビタミンB12値異常 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040130 rdfs:label Abnormal serum iron concentration 血清鉄濃度異常 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040142 rdfs:label Reduced 5-oxoprolinase level 5-オキソプロリナーゼ値の低下 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040268 rdfs:label Recurrent infections of the middle ear 再発性中耳炎 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040278 rdfs:label Prolactinoma プロラクチノーマ 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040303 rdfs:label Decreased serum iron 血清鉄の減少 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0041063 rdfs:label Chronic decreased cirulating IgG2 慢性循環性IgG2減少症 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0041154 rdfs:label Fractured elbow joint 肘関節骨折 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0045040 rdfs:label Abnormal lactate dehydrogenase level 乳酸脱水素酵素値の異常 2023-07-31 EXACT OFFICIAL @@ -190,13 +229,22 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0100734 rdfs:label Abnormality of vertebral epiphysis morphology 脊椎骨端の異常 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0100851 rdfs:label Abnormal emotion/affect behavior 異常な感情/情動行動 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0100852 rdfs:label Abnormal fear/anxiety-related behavior 異常な恐怖/不安関連行動 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0100962 rdfs:label Shyness はずかしがり 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0200000 rdfs:label Dysharmonic bone age 不調和な骨年齢 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0410058 rdfs:label Increased level of D-threitol in CSF 血清中D-スレイトール濃度の上昇 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0410071 rdfs:label Increased level of ribitol in CSF 髄液中のリビトールの増加 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0410073 rdfs:label Increased level of ribose in CSF 髄液中のリボースの増加 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0410075 rdfs:label Increased level of xylitol in CSF 髄液中のキシリトール濃度の増加 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0410192 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level ウリジン二リン酸グルコース-4-エピメラーゼ値の異常 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0410193 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level in plasma 血漿中ウリジン二リン酸グルコース-4-エピメラーゼ値異常 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0410194 rdfs:label Increased uridine diphosphate glucose-4-epimerase level in plasma 血漿中ウリジン二リン酸グルコース-4-エピメラーゼ値の上昇 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0410195 rdfs:label Decreased uridine diphosphate glucose-4-epimerase level in plasma 血漿中ウリジン二リン酸グルコース-4-エピメラーゼ値の低下 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0410196 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells 赤血球中のウリジン二リン酸グルコース-4-エピメラーゼ値の異常 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0410197 rdfs:label Increased uridine diphosphate glucose-4-epimerase level in red blood cells 赤血球中のウリジン二リン酸グルコース-4-エピメラーゼ値の上昇 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0410198 rdfs:label Decreased uridine diphosphate glucose-4-epimerase level in red blood cells 赤血球中のウリジン二リン酸グルコース-4-エピメラーゼ値の減少 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0500161 rdfs:label Increased level of carnosine in blood 血中カルノシン濃度の上昇 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0500162 rdfs:label Decreased level of carnosine in blood 血中カルノシン濃度の低下 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:3000004 rdfs:label Abnormality of frontalis muscle belly 2023-07-31 1.0 EXACT NOT_TRANSLATED http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:4000074 rdfs:label Idiosyncratic language 特異言語 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:4000082 rdfs:label Reduced collaborative play 協調的な遊びの減少 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:4000083 rdfs:label Ignores peers 仲間を無視する。 2023-07-31 EXACT OFFICIAL @@ -205,6 +253,9 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:4000148 rdfs:label Portal artery hyperplasia 門脈過形成 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:4000151 rdfs:label History of recent cotralateral injury 最近の副傷病歴 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:4000163 rdfs:label Decreased phytanoyl-CoA hydroxylase activity フィタノイル-CoA水酸化酵素活性の低下 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:5200017 rdfs:label Abnormal movements of face and head 顔や頭の異常な動き 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:5200018 rdfs:label Abnormal movements of the upper extremities 上肢の異常な動き 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:5200019 rdfs:label Abnormal movements of the whole body 全身の異常な動き 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:5200026 rdfs:label Abnormal social imitation 社会的模倣の異常 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:5200027 rdfs:label Reduced attempt to get or direct another's attention 他者の注意を引こうとする、または向けようとする試みの減少 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:5200028 rdfs:label Reduced response to social cues 社会的合図に対する反応の減少 2023-07-31 EXACT OFFICIAL diff --git a/src/translations/hp-ja-not-translated.babelon.tsv b/src/translations/hp-ja-not-translated.babelon.tsv index bf6340f90..895fd49eb 100644 --- a/src/translations/hp-ja-not-translated.babelon.tsv +++ b/src/translations/hp-ja-not-translated.babelon.tsv @@ -365,6 +365,14 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases en ja HP:0430140 rdfs:label Positive CSF nucleic acid pathogen test NOT_TRANSLATED en ja HP:0430141 rdfs:label Positive CSF varicella zoster antibody positivity NOT_TRANSLATED en ja HP:0430142 rdfs:label Reduced circulating interleukin 6 concentration NOT_TRANSLATED + en ja HP:0430143 rdfs:label Elevated circulating C12 acylcarnitine concentration NOT_TRANSLATED + en ja HP:0430144 rdfs:label Frontalis muscle overactivity NOT_TRANSLATED + en ja HP:0430145 rdfs:label Nasal dermoid cyst NOT_TRANSLATED + en ja HP:0430146 rdfs:label Elevated circulating complement C3 concentration NOT_TRANSLATED + en ja HP:0430147 rdfs:label Abnormal circulating inhibin B concentration NOT_TRANSLATED + en ja HP:0430148 rdfs:label Abnormal circulating lipoprotein(a) concentration NOT_TRANSLATED + en ja HP:0430150 rdfs:label Positive blood infectious agent test NOT_TRANSLATED + en ja HP:0430151 rdfs:label Positive respiratory tract infectious agent test NOT_TRANSLATED http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:3000002 rdfs:label Abnormal inner ear epithelium morphology 2023-07-31 1.0 EXACT NOT_TRANSLATED http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:3000003 rdfs:label Abnormal mandibular ramus morphology 2023-07-31 1.0 EXACT NOT_TRANSLATED http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:3000004 rdfs:label Abnormality of frontalis muscle belly 2023-07-31 1.0 EXACT NOT_TRANSLATED @@ -498,7 +506,7 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases en ja HP:5200232 rdfs:label Phobia NOT_TRANSLATED en ja HP:5200233 rdfs:label Anticipatory anxiety NOT_TRANSLATED en ja HP:5200234 rdfs:label Flight of ideas NOT_TRANSLATED - en ja HP:5200235 rdfs:label Thought disorder NOT_TRANSLATED + en ja HP:5200235 rdfs:label Disorganized speech or communication NOT_TRANSLATED en ja HP:5200237 rdfs:label Pronunciation difficulties NOT_TRANSLATED en ja HP:5200238 rdfs:label Vowel expressive impediment NOT_TRANSLATED en ja HP:5200239 rdfs:label Consonant expressive impediment NOT_TRANSLATED @@ -829,7 +837,7 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases en ja HP:6000228 rdfs:label Failure to increase oxygen saturation on hyperoxia test NOT_TRANSLATED en ja HP:6000229 rdfs:label High-set nipples NOT_TRANSLATED en ja HP:6000230 rdfs:label Decreased muscle caveolin-3 level NOT_TRANSLATED - en ja HP:6000231 rdfs:label Abnormal tissue enzyme activity NOT_TRANSLATED + en ja HP:6000231 rdfs:label Abnormal tissue enzyme concentration or activity NOT_TRANSLATED en ja HP:6000232 rdfs:label Splenic necrosis NOT_TRANSLATED en ja HP:6000233 rdfs:label Carcinoid tumor of the pancreas NOT_TRANSLATED en ja HP:6000234 rdfs:label Elevated circulating dihydroxyphenylacetic acid concentration NOT_TRANSLATED @@ -1047,5 +1055,250 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases en ja HP:6000446 rdfs:label Abnormal circulating CC chemokine concentration NOT_TRANSLATED en ja HP:6000447 rdfs:label Decreased CSF asialotransferrin to transferrin ratio NOT_TRANSLATED en ja HP:6000448 rdfs:label Anti-desmocollin antibody positivity NOT_TRANSLATED + en ja HP:6000449 rdfs:label Occupational exposure to raw nonsynthetic textiles NOT_TRANSLATED + en ja HP:6000450 rdfs:label Rokitansky-Aschoff gallbladder sinuses NOT_TRANSLATED + en ja HP:6000451 rdfs:label Porcelain gallbladder NOT_TRANSLATED + en ja HP:6000452 rdfs:label Gallbladder adhesions NOT_TRANSLATED + en ja HP:6000453 rdfs:label Bilioduodenal fistula NOT_TRANSLATED + en ja HP:6000454 rdfs:label Pneumobilia NOT_TRANSLATED + en ja HP:6000455 rdfs:label Ectopic gallstone NOT_TRANSLATED + en ja HP:6000456 rdfs:label Sleep drunkeness NOT_TRANSLATED + en ja HP:6000457 rdfs:label Mallory bodies NOT_TRANSLATED + en ja HP:6000458 rdfs:label Sulfur-containing abscess NOT_TRANSLATED + en ja HP:6000459 rdfs:label Retracted tympanic membrane NOT_TRANSLATED + en ja HP:6000460 rdfs:label Ectopic testis NOT_TRANSLATED + en ja HP:6000461 rdfs:label Cerebral subcortical cyst NOT_TRANSLATED + en ja HP:6000462 rdfs:label Anti-ADAMTS13 antibody positivity NOT_TRANSLATED + en ja HP:6000463 rdfs:label Habitual mouth breathing NOT_TRANSLATED + en ja HP:6000464 rdfs:label Squared off shoulders NOT_TRANSLATED + en ja HP:6000465 rdfs:label Elevated urine mesaconic acid level NOT_TRANSLATED + en ja HP:6000466 rdfs:label Elevated urine 3-methyladipic acid level NOT_TRANSLATED + en ja HP:6000467 rdfs:label Elevated urine D-lactate level NOT_TRANSLATED + en ja HP:6000468 rdfs:label Elevated CSF alpha-ketoglutarate concentration NOT_TRANSLATED + en ja HP:6000469 rdfs:label Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level NOT_TRANSLATED + en ja HP:6000470 rdfs:label Fetal oral mass NOT_TRANSLATED + en ja HP:6000471 rdfs:label Dilated ejaculatory duct NOT_TRANSLATED + en ja HP:6000472 rdfs:label Decreased Wiskott-Aldrich syndrome protein concentration in hematopoietic cells NOT_TRANSLATED + en ja HP:6000473 rdfs:label Decreased FOXP3-expressing T cell count NOT_TRANSLATED + en ja HP:6000474 rdfs:label Elevated circulating complement component concentration NOT_TRANSLATED + en ja HP:6000475 rdfs:label Anti-beta fodrin antibody positivity NOT_TRANSLATED + en ja HP:6000476 rdfs:label Elevated circulating tetradecenoylcarnitine concentration NOT_TRANSLATED + en ja HP:6000477 rdfs:label Elevated urine 2-trans,4-cis-decadienoylcarnitine level NOT_TRANSLATED + en ja HP:6000478 rdfs:label Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration NOT_TRANSLATED + en ja HP:6000479 rdfs:label Elevated urine N-acetyltyrosine level NOT_TRANSLATED + en ja HP:6000480 rdfs:label Elevated urine manganese level NOT_TRANSLATED + en ja HP:6000481 rdfs:label Reduced urinary manganese level NOT_TRANSLATED + en ja HP:6000482 rdfs:label Decreased circulating catecholamine concentration NOT_TRANSLATED + en ja HP:6000483 rdfs:label Empty sella turcica NOT_TRANSLATED + en ja HP:6000484 rdfs:label Elevated brain guanidinoacetate level by MRS NOT_TRANSLATED + en ja HP:6000485 rdfs:label Elevated circulating beta chorionic gonadotropin concentration NOT_TRANSLATED + en ja HP:6000486 rdfs:label Elevated circulating CXCL10 concentration NOT_TRANSLATED + en ja HP:6000487 rdfs:label Reduced circulating interleukin 12 concentration NOT_TRANSLATED + en ja HP:6000488 rdfs:label Reduced circulating fibroblast growth factor 23 concentration NOT_TRANSLATED + en ja HP:6000489 rdfs:label Abnormal circulating fibroblast growth factor 23 concentration NOT_TRANSLATED + en ja HP:6000490 rdfs:label Impaired heel-walking ability NOT_TRANSLATED + en ja HP:6000491 rdfs:label Anti-prothrombin antibody positivity NOT_TRANSLATED + en ja HP:6000492 rdfs:label Anti-factor V antibody positivity NOT_TRANSLATED + en ja HP:6000493 rdfs:label Anti-factor VII antibody positivity NOT_TRANSLATED + en ja HP:6000494 rdfs:label Anti-factor VIII antibody positivity NOT_TRANSLATED + en ja HP:6000495 rdfs:label Anti-factor IX antibody positivity NOT_TRANSLATED + en ja HP:6000496 rdfs:label Anti-factor X antibody positivity NOT_TRANSLATED + en ja HP:6000497 rdfs:label Anti-factor XI antibody positivity NOT_TRANSLATED + en ja HP:6000498 rdfs:label Anti-factor XIII antibody positivity NOT_TRANSLATED + en ja HP:6000499 rdfs:label Anti-factor H antibody positivity NOT_TRANSLATED + en ja HP:6000500 rdfs:label Extremities cold to touch NOT_TRANSLATED + en ja HP:6000501 rdfs:label Ruffled acrosome NOT_TRANSLATED + en ja HP:6000502 rdfs:label Elevated circulating calprotectin concentration NOT_TRANSLATED + en ja HP:6000503 rdfs:label 4-5 toe cutaneous syndactyly NOT_TRANSLATED + en ja HP:6000504 rdfs:label Poly-hill sign NOT_TRANSLATED + en ja HP:6000505 rdfs:label 3-5 finger cutaneous syndactyly NOT_TRANSLATED + en ja HP:6000506 rdfs:label Radioulnar subluxation NOT_TRANSLATED + en ja HP:6000507 rdfs:label Non-pitting edema NOT_TRANSLATED + en ja HP:6000508 rdfs:label Anti-human ferritin peptide antibody positivity NOT_TRANSLATED + en ja HP:6000509 rdfs:label Elevated CSF L-2-hydroxyglutaric acid concentration NOT_TRANSLATED + en ja HP:6000510 rdfs:label Elevated erythrocyte inosine triphosphate concentration NOT_TRANSLATED + en ja HP:6000511 rdfs:label Reduced erythrocyte inosine triphosphatase activity NOT_TRANSLATED + en ja HP:6000512 rdfs:label Reduced circulating alpha-1,3-fucosyltransferase activity NOT_TRANSLATED + en ja HP:6000513 rdfs:label Diminished neutrophil myeloperoxidase activity NOT_TRANSLATED + en ja HP:6000514 rdfs:label Reduced erythrocyte uroporphyrinogen III cosynthase activity NOT_TRANSLATED + en ja HP:6000515 rdfs:label Elevated 18-hydroxycorticosterone to aldosterone ratio NOT_TRANSLATED + en ja HP:6000516 rdfs:label Elevated circulating 21-deoxycortisol concentration NOT_TRANSLATED + en ja HP:6000517 rdfs:label Elevated monolysocardiolipin/cardiolipin ratio NOT_TRANSLATED + en ja HP:6000518 rdfs:label Low maternal vitamin B12 concentration NOT_TRANSLATED + en ja HP:6000519 rdfs:label Elevated circulating inhibin A concentration NOT_TRANSLATED + en ja HP:6000520 rdfs:label Increased circulating inhibin B concentration NOT_TRANSLATED + en ja HP:6000521 rdfs:label Elevated circulating lipoprotein(a) concentration NOT_TRANSLATED + en ja HP:6000522 rdfs:label Reduced circulating lipoprotein(a) concentration NOT_TRANSLATED + en ja HP:6000523 rdfs:label Increased urinary bile acid level NOT_TRANSLATED + en ja HP:6000524 rdfs:label Abnormal urinary bile acid level NOT_TRANSLATED + en ja HP:6000525 rdfs:label Reduced erythrocyte glutathione reductase activity NOT_TRANSLATED + en ja HP:6000526 rdfs:label Failure to elevate lactate upon ischemic exercise test NOT_TRANSLATED + en ja HP:6000527 rdfs:label Elevated circulating cholestanol concentration NOT_TRANSLATED + en ja HP:6000528 rdfs:label Livestock exposure NOT_TRANSLATED + en ja HP:6000529 rdfs:label Synchronous skin lesions NOT_TRANSLATED + en ja HP:6000530 rdfs:label Serpentine skin location NOT_TRANSLATED + en ja HP:6000531 rdfs:label Abnormal urinary organic compound level NOT_TRANSLATED + en ja HP:6000532 rdfs:label Elevated urinary histamine level NOT_TRANSLATED + en ja HP:6000533 rdfs:label Elevated urinary N-methylhistamine level NOT_TRANSLATED + en ja HP:6000534 rdfs:label Elevated urinary ureidopropionic acid level NOT_TRANSLATED + en ja HP:6000535 rdfs:label Elevated urinary porphyrin level NOT_TRANSLATED + en ja HP:6000536 rdfs:label Elevated urinary coproporphyrin level NOT_TRANSLATED + en ja HP:6000537 rdfs:label Ecrrine sweat gland predominance NOT_TRANSLATED + en ja HP:6000538 rdfs:label Poorly demarcated skin lesion NOT_TRANSLATED + en ja HP:6000539 rdfs:label History of recent cat bite NOT_TRANSLATED + en ja HP:6000540 rdfs:label History of recent stay in area with inadequate sewage sanitation NOT_TRANSLATED + en ja HP:6000541 rdfs:label Positive cutaneous herpes simplex virus nucleic acid test NOT_TRANSLATED + en ja HP:6000542 rdfs:label Positive CSF mycobacterium tuberculosis nucleic acid test NOT_TRANSLATED + en ja HP:6000543 rdfs:label Posiitive mycobacterium CSF culture NOT_TRANSLATED + en ja HP:6000544 rdfs:label Positive mycobacterium CSF microscopy NOT_TRANSLATED + en ja HP:6000545 rdfs:label Positive treponema pallidum PCR test in the blood circulation NOT_TRANSLATED + en ja HP:6000546 rdfs:label Positive human Immunodeficiency virus nucleic acid test in the blood circulation NOT_TRANSLATED + en ja HP:6000547 rdfs:label Positive CSF enterovirus nucleic acid test NOT_TRANSLATED + en ja HP:6000548 rdfs:label Positive CSF Borrelia burgdorferi nucleic acid test NOT_TRANSLATED + en ja HP:6000549 rdfs:label Positive CSF arbovirus nucleic acid test NOT_TRANSLATED + en ja HP:6000550 rdfs:label Positive Bartonella henselae nucleic acid test in the blood circulation NOT_TRANSLATED + en ja HP:6000551 rdfs:label Positive Dengue virus PCR test in the blood circulation NOT_TRANSLATED + en ja HP:6000552 rdfs:label Positive CSF JC-virus nucleic acid test NOT_TRANSLATED + en ja HP:6000553 rdfs:label Bloodstream Malaria parasite NOT_TRANSLATED + en ja HP:6000554 rdfs:label Positive bloodstream plasmodium falciparum nucleic acid pathogen test NOT_TRANSLATED + en ja HP:6000555 rdfs:label Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity NOT_TRANSLATED + en ja HP:6000556 rdfs:label Reduced circulating dopamine beta-hydroxylase activity NOT_TRANSLATED + en ja HP:6000557 rdfs:label Reduced erythrocyte bisphosphoglycerate mutase activity NOT_TRANSLATED + en ja HP:6000558 rdfs:label Reduced erythrocyte adenylate kinase activity NOT_TRANSLATED + en ja HP:6000559 rdfs:label Reduced erythrocyte hexokinase activity NOT_TRANSLATED + en ja HP:6000560 rdfs:label Decreased circulating carboxypeptidase N activity NOT_TRANSLATED + en ja HP:6000561 rdfs:label Elevated red cell pyruvate kinase activity NOT_TRANSLATED + en ja HP:6000562 rdfs:label Reduced circulating adenosine deaminase-2 activity NOT_TRANSLATED + en ja HP:6000563 rdfs:label Reduced sepiapterin reductase activity in cultured fibroblasts NOT_TRANSLATED + en ja HP:6000564 rdfs:label Elevated circulating vasoactive intestinal peptide concentration NOT_TRANSLATED + en ja HP:6000565 rdfs:label Elevated circulating cholesterol sulfate concentration NOT_TRANSLATED + en ja HP:6000566 rdfs:label Elevated circulating lipoprotein X concentration NOT_TRANSLATED + en ja HP:6000567 rdfs:label Elevated circulating oxalate concentration NOT_TRANSLATED + en ja HP:6000568 rdfs:label Elevated blood ethylene glycol concentration NOT_TRANSLATED + en ja HP:6000569 rdfs:label Midline notching of lower lip NOT_TRANSLATED + en ja HP:6000570 rdfs:label Reduced tissue thymidine phosphorylase activity NOT_TRANSLATED + en ja HP:6000571 rdfs:label Reduced tissue tripeptidyl peptidase 1 activity NOT_TRANSLATED + en ja HP:6000572 rdfs:label Reduced tissue arginine:glycine amidinotransferase activity NOT_TRANSLATED + en ja HP:6000573 rdfs:label Reduced tissue aspartylglucosaminidase activity NOT_TRANSLATED + en ja HP:6000574 rdfs:label Reduced tissue carnitine-acylcarnitine translocase activity NOT_TRANSLATED + en ja HP:6000575 rdfs:label Reduced circulating 6-pyruvoyltetrahydropterin synthase activity NOT_TRANSLATED + en ja HP:6000576 rdfs:label Reduced tissue mannosyl-oligosaccharide glucosidase activity NOT_TRANSLATED + en ja HP:6000577 rdfs:label Reduced tissue 3-methylglutaconyl-CoA hydratase activity NOT_TRANSLATED + en ja HP:6000578 rdfs:label Reduced tissue gamma-glutamyltransferase activity NOT_TRANSLATED + en ja HP:6000579 rdfs:label Positive oropharangeal infectious agent test NOT_TRANSLATED + en ja HP:6000580 rdfs:label Positive oropharynx poliovirus nucleic acid test NOT_TRANSLATED + en ja HP:6000581 rdfs:label Positive synonvial fluid infectious agent test NOT_TRANSLATED + en ja HP:6000582 rdfs:label Positive synonvial fluid culture NOT_TRANSLATED + en ja HP:6000583 rdfs:label Positive synovial fluid gram stain NOT_TRANSLATED + en ja HP:6000584 rdfs:label Anti Parvovirus antibody positivity NOT_TRANSLATED + en ja HP:6000585 rdfs:label Brain parenchymal tuberculoma NOT_TRANSLATED + en ja HP:6000586 rdfs:label Muscle arteriovenous malformation NOT_TRANSLATED + en ja HP:6000587 rdfs:label Bone arteriovenous malformation NOT_TRANSLATED + en ja HP:6000588 rdfs:label Periosteal elevation NOT_TRANSLATED + en ja HP:6000589 rdfs:label Esophageal dilation NOT_TRANSLATED + en ja HP:6000590 rdfs:label Spinal lipoma NOT_TRANSLATED + en ja HP:6000591 rdfs:label Loose body in joint NOT_TRANSLATED + en ja HP:6000592 rdfs:label Paraspinal arteriovenous malformation NOT_TRANSLATED + en ja HP:6000593 rdfs:label Supernumerary tarsal bone NOT_TRANSLATED + en ja HP:6000594 rdfs:label Maxillary cyst NOT_TRANSLATED + en ja HP:6000595 rdfs:label Mandibular cyst NOT_TRANSLATED + en ja HP:6000596 rdfs:label Sixth cranial nerve hypoplasia NOT_TRANSLATED + en ja HP:6000597 rdfs:label Third cranial nerve hypoplasia NOT_TRANSLATED + en ja HP:6000598 rdfs:label Elevated urinary succinylacetone level NOT_TRANSLATED + en ja HP:6000599 rdfs:label Elevated urinary 2-oxoisocaproic level NOT_TRANSLATED + en ja HP:6000600 rdfs:label Elevated urinary 2-oxovaleric acid level NOT_TRANSLATED + en ja HP:6000601 rdfs:label Elevated urinary 2-hydroxyisocaproic acid level NOT_TRANSLATED + en ja HP:6000602 rdfs:label Elevated urinary isovalerylglycine level NOT_TRANSLATED + en ja HP:6000603 rdfs:label Elevated urinary 2-methyl-3-hydroxybutyric acid level NOT_TRANSLATED + en ja HP:6000604 rdfs:label Elevated urinary 3-hydroxypentanoic acid level NOT_TRANSLATED + en ja HP:6000605 rdfs:label Elevated urinary 7-hydroxyoctanoic acid level NOT_TRANSLATED + en ja HP:6000606 rdfs:label Elevated urinary D-glyceric acid level NOT_TRANSLATED + en ja HP:6000607 rdfs:label Elevated urinary 3-hydroxyisobutyric acid level NOT_TRANSLATED + en ja HP:6000608 rdfs:label Elevated urinary 3,4-Dihydroxybutyric acid level NOT_TRANSLATED + en ja HP:6000609 rdfs:label Elevated urinary 3-hydroxyadipic acid level NOT_TRANSLATED + en ja HP:6000610 rdfs:label Elevated erythrocyte galactose-1-phosphate concentration NOT_TRANSLATED + en ja HP:6000611 rdfs:label Elevated circulating chitotriosidase activity NOT_TRANSLATED + en ja HP:6000612 rdfs:label Squamosal suture synostosis NOT_TRANSLATED + en ja HP:6000613 rdfs:label Enlarged fetal lungs NOT_TRANSLATED + en ja HP:6000614 rdfs:label Orbital inflammation NOT_TRANSLATED + en ja HP:6000615 rdfs:label Reduced Inositol polyphosphate 5-phosphatase OCRL-1 activity in cultured fibroblasts NOT_TRANSLATED + en ja HP:6000616 rdfs:label Reduced muscle glycogen debrancher enzyme activity NOT_TRANSLATED + en ja HP:6000617 rdfs:label Reduced tissue UDP-glucuronyl-transferase activity NOT_TRANSLATED + en ja HP:6000618 rdfs:label Temporal artery giant cells NOT_TRANSLATED + en ja HP:6000619 rdfs:label Reduced phosphoenolpyruvate carboxykinase activity in cultured fibroblasts NOT_TRANSLATED + en ja HP:6000620 rdfs:label Elevated urinary pyrroline hydroxycarboxylic acid level NOT_TRANSLATED + en ja HP:6000621 rdfs:label Elevated urinary N-tau-ribosylhistidine level NOT_TRANSLATED + en ja HP:6000622 rdfs:label Elevated urinary ureidoisobutyric acid level NOT_TRANSLATED + en ja HP:6000623 rdfs:label Elevated urinary N-carbamyl-beta-aminoisobutyric acid level NOT_TRANSLATED + en ja HP:6000624 rdfs:label Nipple epidermal Paget cells NOT_TRANSLATED + en ja HP:6000625 rdfs:label Penile corporal blood gas ischemia NOT_TRANSLATED + en ja HP:6000626 rdfs:label Recent temporal region trauma NOT_TRANSLATED + en ja HP:6000627 rdfs:label Rest limb pain NOT_TRANSLATED + en ja HP:6000628 rdfs:label Scalloped appearance of liver surface NOT_TRANSLATED + en ja HP:6000629 rdfs:label Nipple thickening NOT_TRANSLATED + en ja HP:6000630 rdfs:label Hypoechoic breast mass NOT_TRANSLATED + en ja HP:6000631 rdfs:label Unilocular ovarian cyst NOT_TRANSLATED + en ja HP:6000632 rdfs:label Mesenteric torsion NOT_TRANSLATED + en ja HP:6000633 rdfs:label High-pitched bowel sounds NOT_TRANSLATED + en ja HP:6000634 rdfs:label Exacerbated by opiate medication NOT_TRANSLATED + en ja HP:6000635 rdfs:label Breast granuloma NOT_TRANSLATED + en ja HP:6000636 rdfs:label Exposure to cosmetic fragrances NOT_TRANSLATED + en ja HP:6000637 rdfs:label Sweating and flushing in the preauricular area in response to mastication NOT_TRANSLATED + en ja HP:6000638 rdfs:label Reduced hepatic glyoxylate reductase activity NOT_TRANSLATED + en ja HP:6000639 rdfs:label PAS-positive lymphocyte vacuolization NOT_TRANSLATED + en ja HP:6000640 rdfs:label Lipid-laden bone-marrow macrophages NOT_TRANSLATED + en ja HP:6000641 rdfs:label Bone marrow monocytosis NOT_TRANSLATED + en ja HP:6000642 rdfs:label Sunflower cataract NOT_TRANSLATED + en ja HP:6000643 rdfs:label Anti-lamin A antibody positivity NOT_TRANSLATED + en ja HP:6000644 rdfs:label Anti-lamin C antibody positivity NOT_TRANSLATED + en ja HP:6000645 rdfs:label Anti-vinculin antibody positivity NOT_TRANSLATED + en ja HP:6000646 rdfs:label Anti-annexin A5 antibody positivity NOT_TRANSLATED + en ja HP:6000647 rdfs:label Bulging fontanelle NOT_TRANSLATED + en ja HP:6000648 rdfs:label 3-4 toe cutaneous syndactyly NOT_TRANSLATED + en ja HP:6000649 rdfs:label Triangular nail NOT_TRANSLATED + en ja HP:6000650 rdfs:label Distal tibiofibular synostosis NOT_TRANSLATED + en ja HP:6000651 rdfs:label Abnormal metacarpal ossification NOT_TRANSLATED + en ja HP:6000652 rdfs:label Rib spur NOT_TRANSLATED + en ja HP:6000653 rdfs:label Crescent-shaped iliac bone NOT_TRANSLATED + en ja HP:6000654 rdfs:label Abnormal ischium ossification NOT_TRANSLATED + en ja HP:6000655 rdfs:label Femoral neck fracture NOT_TRANSLATED + en ja HP:6000656 rdfs:label Papillary dermis eosinophilic hyaline material NOT_TRANSLATED + en ja HP:6000657 rdfs:label Pancreatic intraductal papillary mucinous neoplasm NOT_TRANSLATED + en ja HP:6000658 rdfs:label Medium vessel vasculitis NOT_TRANSLATED + en ja HP:6000659 rdfs:label Elevated muscle fiber laminin alpha 5 expression NOT_TRANSLATED + en ja HP:6000660 rdfs:label Paravertebral mass NOT_TRANSLATED + en ja HP:6000661 rdfs:label Phlebolith NOT_TRANSLATED + en ja HP:6000662 rdfs:label Bladder rupture NOT_TRANSLATED + en ja HP:6000663 rdfs:label Elevated myocardial iron load NOT_TRANSLATED + en ja HP:6000664 rdfs:label Right ventricular regional wall motion abnormality NOT_TRANSLATED + en ja HP:6000665 rdfs:label Right ventricular regional akinesia NOT_TRANSLATED + en ja HP:6000666 rdfs:label Right ventricular regional dyskinesia NOT_TRANSLATED + en ja HP:6000667 rdfs:label Right ventricular aneurysm NOT_TRANSLATED + en ja HP:6000668 rdfs:label Glomerular immune-complex deposition NOT_TRANSLATED + en ja HP:6000669 rdfs:label Glomerular PLA2R immune-complex deposition NOT_TRANSLATED + en ja HP:6000670 rdfs:label Elevated urinary L-glycerate level NOT_TRANSLATED + en ja HP:6000671 rdfs:label Breast myxoma NOT_TRANSLATED + en ja HP:6000672 rdfs:label Ovarian cystadenoma NOT_TRANSLATED + en ja HP:6000673 rdfs:label Abnormal CSF N-acetylaspartic acid concentration NOT_TRANSLATED + en ja HP:6000674 rdfs:label Decreased CSF N-acetylaspartic acid concentration NOT_TRANSLATED + en ja HP:6000675 rdfs:label Elevated urinary mevalonate lactone level NOT_TRANSLATED + en ja HP:6000676 rdfs:label Anti-von Willebrand factor antibody positivity NOT_TRANSLATED + en ja HP:6000677 rdfs:label Elevated natural killer cell count NOT_TRANSLATED + en ja HP:6000678 rdfs:label Myositis-specific autoantibody positivity NOT_TRANSLATED + en ja HP:6000679 rdfs:label Abnormal serum osmolality NOT_TRANSLATED + en ja HP:6000680 rdfs:label Low serum osmolality NOT_TRANSLATED + en ja HP:6000681 rdfs:label High serum osmolality NOT_TRANSLATED + en ja HP:6000682 rdfs:label History of compressive dressings NOT_TRANSLATED + en ja HP:6000683 rdfs:label Triggered by overhead motions NOT_TRANSLATED + en ja HP:6000684 rdfs:label Radiating pain NOT_TRANSLATED + en ja HP:6000685 rdfs:label Mitral opening snap NOT_TRANSLATED + en ja HP:6000686 rdfs:label Mucus in stool NOT_TRANSLATED + en ja HP:6000687 rdfs:label Elevated circulating CCL3 concentration NOT_TRANSLATED + en ja HP:6000688 rdfs:label Elevated circulating CCL4 concentration NOT_TRANSLATED + en ja HP:6000689 rdfs:label Elevated CSF 14-3-3 protein concentration NOT_TRANSLATED + en ja HP:6000690 rdfs:label Elevated CSF dihydrobiopterin concentration NOT_TRANSLATED + en ja HP:6000691 rdfs:label Left atrial fibrosis NOT_TRANSLATED + en ja HP:6000692 rdfs:label Abnormal circulating atrial natriuretic peptide pro-hormone concentration NOT_TRANSLATED + en ja HP:6000693 rdfs:label Reduced circulating NT-proANP concentration NOT_TRANSLATED en ja RO:0000052 rdfs:label inheres in NOT_TRANSLATED en ja RO:0002314 rdfs:label inheres in part of NOT_TRANSLATED diff --git a/src/translations/hp-ja-preprocessed.babelon.tsv b/src/translations/hp-ja-preprocessed.babelon.tsv index 2cbd62783..bb82994ca 100644 --- a/src/translations/hp-ja-preprocessed.babelon.tsv +++ b/src/translations/hp-ja-preprocessed.babelon.tsv @@ -317,7 +317,7 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0000411 rdfs:label Protruding ear 耳介聳立 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0000413 rdfs:label Atresia of the external auditory canal 外耳道閉鎖 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0000414 rdfs:label Bulbous nose 球状の鼻 2023-07-31 1.0 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0000415 rdfs:label Abnormality of the choanae 後鼻孔の異常 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0000415 rdfs:label Abnormal choanae morphology 後鼻孔の異常 2023-07-31 1.0 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0000417 rdfs:label Slender nose 細い鼻 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0000418 rdfs:label Narrow nasal ridge 狭い鼻梁 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0000419 rdfs:label Abnormal nasal septum morphology 鼻中隔の異常 2023-07-31 1.0 EXACT OFFICIAL @@ -572,7 +572,7 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0000728 rdfs:label Impaired ability to form peer relationships 同僚関係構築能障害 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0000729 rdfs:label Autistic behavior 自閉性行動 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0000732 rdfs:label Inflexible adherence to routines ルーチンまたは儀式への譲歩しない執着 2023-07-31 1.0 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0000733 rdfs:label Abnormal repetitive mannerisms 常同行動 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0000733 rdfs:label Motor stereotypy 常同行動 2023-07-31 1.0 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0000734 rdfs:label Disinhibition 脱抑制 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0000735 rdfs:label obsolete Impaired social interactions 社会的相互作用障害 2023-07-31 1.0 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0000736 rdfs:label Short attention span 短い注意期間 2023-07-31 1.0 EXACT OFFICIAL @@ -1395,7 +1395,7 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0001897 rdfs:label Normocytic anemia 正球性貧血 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0001898 rdfs:label Increased red blood cell mass 赤血球容量の増加 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0001899 rdfs:label Increased hematocrit ヘマトクリット増加 2023-07-31 1.0 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0001900 rdfs:label Increased hemoglobin ヘモグロビン増加 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0001900 rdfs:label Increased circulating hemoglobin concentration ヘモグロビン増加 2023-07-31 1.0 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0001901 rdfs:label Polycythemia 多血症 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0001902 rdfs:label Giant platelets 巨大血小板 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0001903 rdfs:label Anemia 貧血 2023-07-31 1.0 EXACT OFFICIAL @@ -2021,7 +2021,7 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0002741 rdfs:label Recurrent Serratia marcescens infections 反復性セラチア菌感染症 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0002742 rdfs:label Recurrent Klebsiella infections 反復性クレブシエラ感染症 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0002743 rdfs:label Recurrent enteroviral infections 反復性エンテロウイルス感染症 2023-07-31 1.0 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0002744 rdfs:label Bilateral cleft lip and palate 両側性口唇口蓋裂 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0002744 rdfs:label obsolete Bilateral cleft lip and palate 両側性口唇口蓋裂 2023-07-31 1.0 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0002745 rdfs:label Oral leukoplakia 口腔ロイコプラキア 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0002747 rdfs:label Respiratory insufficiency due to muscle weakness 筋虚弱による呼吸不全 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0002748 rdfs:label Rickets くる病 2023-07-31 1.0 EXACT OFFICIAL @@ -2528,7 +2528,7 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0003449 rdfs:label Cold-induced muscle cramps 寒冷誘発性筋けいれん (こむらがえり) 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0003450 rdfs:label Axonal regeneration 軸索再生 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0003451 rdfs:label Increased rate of premature chromosome condensation 早期染色体濃縮率の増加 2023-07-31 1.0 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0003452 rdfs:label Increased serum iron 血清鉄増加 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0003452 rdfs:label Increased circulating iron concentration 血清鉄増加 2023-07-31 1.0 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0003453 rdfs:label Antineutrophil antibody positivity 抗好中球抗体陽性 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0003454 rdfs:label Platelet antibody positive 血小板抗体陽性 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0003455 rdfs:label Elevated circulating long chain fatty acid concentration 長鎖脂肪酸上昇 2023-07-31 1.0 EXACT OFFICIAL @@ -2623,7 +2623,7 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0003616 rdfs:label Premature separation of centromeric heterochromatin 早期動原体ヘテロクロマチン分離 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0003634 rdfs:label Amyoplasia 全身性筋形成不全 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0003635 rdfs:label Loss of subcutaneous adipose tissue in limbs 四肢の皮下脂肪組織喪失 2023-07-31 1.0 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0003637 rdfs:label Reduced 4-Hydroxyphenylpyruvate dioxygenase level 4-Hydroxyphenylpyruvate dioxygenase 活性減少 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0003637 rdfs:label Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity 4-Hydroxyphenylpyruvate dioxygenase 活性減少 2023-07-31 1.0 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0003639 rdfs:label Elevated urinary epinephrine level 尿中エピネフリン上昇 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0003640 rdfs:label CNS foam cells 内臓器官および中枢神経の泡沫細胞 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0003641 rdfs:label Hemoglobinuria ヘモグロビン尿 2023-07-31 1.0 EXACT OFFICIAL @@ -3135,7 +3135,7 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0004428 rdfs:label Elfin facies 妖精顔貌 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0004429 rdfs:label Recurrent viral infections 反復性ウイルス感染症 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0004430 rdfs:label Severe combined immunodeficiency 重症複合型免疫不全 2023-07-31 1.0 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0004431 rdfs:label Complement deficiency 補体欠乏症 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0004431 rdfs:label Reduced circulating complement concentration 補体欠乏症 2023-07-31 1.0 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0004432 rdfs:label Agammaglobulinemia 無ガンマグロブリン血症 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0004433 rdfs:label Secretory IgA deficiency 分泌型 IgA欠乏症 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0004434 rdfs:label Decreased circulating complement C8 concentration C8欠乏症 2023-07-31 1.0 EXACT OFFICIAL @@ -3630,7 +3630,7 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0005281 rdfs:label Hypoplastic nasal bridge 鼻梁低形成 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0005285 rdfs:label Absent nasal bridge 鼻梁欠損 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0005288 rdfs:label Abnormal nostril morphology 鼻孔の異常 2023-07-31 1.0 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0005289 rdfs:label Abnormality of the nasolabial region 鼻唇領域の異常 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0005289 rdfs:label Abnormal nasolabial region morphology 鼻唇領域の異常 2023-07-31 1.0 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0005290 rdfs:label Internal carotid artery hypoplasia 内頚動脈低形成 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0005291 rdfs:label Inflammatory arteriopathy 炎症性血管症 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0005292 rdfs:label Intimal thickening in the coronary arteries 冠状動脈の内膜肥厚 2023-07-31 1.0 EXACT OFFICIAL @@ -4260,13 +4260,13 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0006413 rdfs:label Broad tibial metaphyses 幅広い脛骨骨幹端 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0006414 rdfs:label Distal tibial bowing 遠位脛骨湾曲 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0006415 rdfs:label Cortically dense long tubular bones 皮質の濃い長管骨 2023-07-31 1.0 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0006417 rdfs:label Broad femoral metaphyses 幅広い大腿骨骨幹端 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0006417 rdfs:label Wide femoral metaphysis 幅広い大腿骨骨幹端 2023-07-31 1.0 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0006420 rdfs:label Asymmetric radial dysplasia 非対称性橈骨異形成 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0006423 rdfs:label Peg-like central prominence of distal tibial metaphyses 遠位脛骨骨幹端の杭状中央部突出 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0006424 rdfs:label Elongated radius 長い橈骨 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0006426 rdfs:label Rudimentary to absent tibiae 痕跡的脛骨または脛骨欠損 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0006429 rdfs:label Broad femoral neck 幅広い大腿骨頸部 2023-07-31 1.0 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0006431 rdfs:label Proximal femoral metaphyseal abnormality 遠位および近位大腿骨の骨幹端異常 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0006431 rdfs:label Abnormal proximal femoral metaphysis morphology 遠位および近位大腿骨の骨幹端異常 2023-07-31 1.0 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0006432 rdfs:label Trapezoidal distal femoral condyles 台形の遠位大腿骨顆 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0006433 rdfs:label Radial dysplasia 橈骨異形成 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0006434 rdfs:label Hypoplasia of proximal radius 近位橈骨低形成 2023-07-31 1.0 EXACT OFFICIAL @@ -5453,7 +5453,7 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008416 rdfs:label Six lumbar vertebrae 6個の腰椎 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008417 rdfs:label Vertebral hypoplasia 脊椎低形成 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008418 rdfs:label Squared-off platyspondyly 四角い扁平脊椎 2023-07-31 1.0 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008419 rdfs:label Intervertebral disc degeneration 椎間板変性 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008419 rdfs:label Intervertebral disk degeneration 椎間板変性 2023-07-31 1.0 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008420 rdfs:label Punctate vertebral calcifications 脊椎点状石灰化 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008421 rdfs:label Tall lumbar vertebral bodies 背の高い腰椎椎体骨 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008422 rdfs:label Vertebral wedging 楔状脊椎骨 2023-07-31 1.0 EXACT OFFICIAL @@ -5517,9 +5517,9 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008494 rdfs:label Inferior lens subluxation 下方水晶体亜脱臼 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008496 rdfs:label Multiple rows of eyelashes 睫毛多列 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008497 rdfs:label Congenital craniofacial dysostosis 先天性頭蓋顔面異骨症 2023-07-31 1.0 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008498 rdfs:label No permanent dentition 永久歯完全欠損 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008498 rdfs:label obsolete No permanent dentition 永久歯完全欠損 2023-07-31 1.0 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008499 rdfs:label High hypermetropia 高度遠視 2023-07-31 1.0 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008501 rdfs:label Median cleft lip and palate 正中口唇口蓋裂 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008501 rdfs:label obsolete Median cleft lip and palate 正中口唇口蓋裂 2023-07-31 1.0 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008504 rdfs:label Moderate sensorineural hearing impairment 中等度の感音難聴 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008507 rdfs:label Static ophthalmoparesis 停止性眼筋不全麻痺 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008509 rdfs:label Aged leonine appearance 老いたライオン様外観 2023-07-31 1.0 EXACT OFFICIAL @@ -5569,7 +5569,7 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008629 rdfs:label Pulsatile tinnitus 拍動性耳鳴 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008631 rdfs:label Ureteral dysgenesis 尿管異発生 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008633 rdfs:label Agonadism 生殖組織欠損 2023-07-31 1.0 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008635 rdfs:label Hypertrophy of the urinary bladder 膀胱肥大 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008635 rdfs:label Urinary bladder wall hypertrophy 膀胱肥大 2023-07-31 1.0 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008636 rdfs:label obsolete Lobular glomerulopathy 小葉性糸球体症 2023-07-31 1.0 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008639 rdfs:label Gonadal hypoplasia 性腺低形成 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0008640 rdfs:label Congenital macroorchidism 先天性巨大精巣 2023-07-31 1.0 EXACT OFFICIAL @@ -6257,7 +6257,7 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0009592 rdfs:label Astrocytoma 星状細胞腫 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0009593 rdfs:label Peripheral schwannoma 末梢神経シュワン細胞腫 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0009594 rdfs:label Retinal hamartoma 網膜過誤腫 2023-07-31 1.0 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0009595 rdfs:label Occasional neurofibromas 時たまの神経線維腫 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0009595 rdfs:label obsolete Occasional neurofibromas 時たまの神経線維腫 2023-07-31 1.0 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0009596 rdfs:label Aplasia of the proximal phalanx of the 2nd finger 第2指基節骨無形成 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0009597 rdfs:label Short proximal phalanx of the 2nd finger 短い第2指基節骨 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0009598 rdfs:label Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal 第2指基節骨と第2中手骨の指関節癒合症 2023-07-31 1.0 EXACT OFFICIAL @@ -6541,7 +6541,7 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0009919 rdfs:label Retinoblastoma 網膜芽細胞腫 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0009920 rdfs:label Nevus of Ota 太田母斑 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0009921 rdfs:label Duane anomaly Duane 奇形 2023-07-31 1.0 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0009922 rdfs:label Vascular remnant arising from the disc 硝子体動脈遺残 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0009922 rdfs:label Vascular remnant arising from the disk 硝子体動脈遺残 2023-07-31 1.0 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0009924 rdfs:label Aplasia/Hypoplasia involving the nose 鼻の無形成/低形成 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0009926 rdfs:label Epiphora 流涙の増加 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0009927 rdfs:label Aplasia of the nose 鼻無形成 2023-07-31 1.0 EXACT OFFICIAL @@ -7179,7 +7179,7 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0010583 rdfs:label Ivory epiphyses 象牙骨端 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0010584 rdfs:label Pseudoepiphyses 偽骨端 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0010585 rdfs:label Small epiphyses 小さい骨端 2023-07-31 1.0 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0010587 rdfs:label Triangular epiphyses 三角形の骨端 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0010587 rdfs:label Triangular epiphysis 三角形の骨端 2023-07-31 1.0 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0010588 rdfs:label Premature epimetaphyseal fusion 早発性骨端骨幹端癒合 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0010590 rdfs:label Abnormality of the distal femoral epiphysis 遠位大腿骨骨端の異常 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0010591 rdfs:label Abnormality of the proximal tibial epiphysis 近位脛骨骨端の異常 2023-07-31 1.0 EXACT OFFICIAL @@ -7228,7 +7228,7 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0010637 rdfs:label Conjunctival amyloidosis 結膜アミロイドーシス 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0010638 rdfs:label Elevated alkaline phosphatase of hepatic origin 肝由来アルカリホスファターゼ上昇 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0010639 rdfs:label Elevated alkaline phosphatase of bone origin 骨由来アルカリホスファターゼ上昇 2023-07-31 1.0 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0010640 rdfs:label Abnormality of the nasal cavity 鼻腔の異常 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0010640 rdfs:label Abnormal nasal cavity morphology 鼻腔の異常 2023-07-31 1.0 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0010641 rdfs:label Abnormality of the midnasal cavity 中鼻腔の異常 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0010643 rdfs:label Midnasal atresia 正中鼻閉鎖 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0010644 rdfs:label Midnasal stenosis 正中鼻狭窄 2023-07-31 1.0 EXACT OFFICIAL @@ -7672,12 +7672,12 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0011109 rdfs:label Chronic sinusitis 慢性副鼻腔炎 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0011110 rdfs:label Recurrent tonsillitis 扁桃炎 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0011111 rdfs:label Abnormal immune serum protein physiology 免疫血清タンパク生理の異常 2023-07-31 1.0 EXACT CANDIDATE -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0011112 rdfs:label Abnormality of serum cytokine level 血清サイトカイン値の異常 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0011112 rdfs:label Abnormal circulating cytokine concentration 血清サイトカイン値の異常 2023-07-31 1.0 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0011113 rdfs:label Abnormality of cytokine secretion サイトカイン分泌の異常 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0011114 rdfs:label Defective production of NFKB1-dependent cytokines NFKB1依存性サイトカイン産生障害 2023-07-31 1.0 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0011115 rdfs:label Abnormality of chemokine secretion ケモカイン分泌の異常 2023-07-31 1.0 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0011116 rdfs:label Abnormality of interferon secretion インターフェロン分泌の異常 2023-07-31 1.0 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0011117 rdfs:label Abnormality of interleukin secretion インターロイキン分泌の異常 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0011115 rdfs:label Abnormal circulating chemokine concentration ケモカイン分泌の異常 2023-07-31 1.0 EXACT CANDIDATE +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0011116 rdfs:label Abnormal circulating interferon concentration インターフェロン分泌の異常 2023-07-31 1.0 EXACT CANDIDATE +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0011117 rdfs:label Abnormal circulating interleukin concentration インターロイキン分泌の異常 2023-07-31 1.0 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0011118 rdfs:label Abnormality of tumor necrosis factor secretion 腫瘍壊死因子分泌の異常 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0011119 rdfs:label Abnormal nasal dorsum morphology 鼻背の異常 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0011120 rdfs:label Concave nasal ridge 窪んだ鼻梁 2023-07-31 1.0 EXACT OFFICIAL @@ -9060,7 +9060,7 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0012514 rdfs:label Lower limb pain 下肢痛 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0012515 rdfs:label Hip flexor weakness 股関節屈曲筋虚弱 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0012516 rdfs:label Tetralogy of Fallot with pulmonary atresia 肺動脈弁閉鎖を伴うFallot 四徴症 2023-07-31 1.0 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0012517 rdfs:label Reduced catalase level カタラーゼ活性減少 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0012517 rdfs:label Reduced circulating catalase activity カタラーゼ活性減少 2023-07-31 1.0 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0012518 rdfs:label Abnormal circle of Willis morphology Willis 輪の異常 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0012519 rdfs:label Hypoplastic posterior communicating artery 後交通動脈低形成 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0012520 rdfs:label Dilation of Virchow-Robin spaces 血管周囲腔 2023-07-31 1.0 EXACT OFFICIAL @@ -9452,7 +9452,7 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0020060 rdfs:label Decreased red blood cell count 赤血球数の減少 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0020061 rdfs:label Abnormal hemoglobin concentration ヘモグロビン濃度の異常 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0020062 rdfs:label Decreased hemoglobin concentration ヘモグロビン濃度の減少 2023-07-31 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0020063 rdfs:label Increased hemoglobin concentration ヘモグロビン濃度の上昇 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0020063 rdfs:label obsolete Increased hemoglobin concentration ヘモグロビン濃度の上昇 2023-07-31 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0020064 rdfs:label Abnormal eosinophil count 好酸球数の異常 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0020071 rdfs:label Viremia ウイルス血症 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0020072 rdfs:label Persistent EBV viremia 持続性EBVウイルス血症 2023-07-31 EXACT OFFICIAL @@ -9550,7 +9550,7 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0020172 rdfs:label Adverse drug response 薬物有害反応 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0020173 rdfs:label Reduced drug efficacy 薬効低下 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0020174 rdfs:label Refractory drug response 難治性薬物反応 2023-07-31 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0020175 rdfs:label Reduced cholinesterase level コリンエステラーゼ値の低下 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0020175 rdfs:label Reduced circulating cholinesterase activity コリンエステラーゼ値の低下 2023-07-31 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0020176 rdfs:label Cholesterol crystalluria コレステロール結晶尿 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0020177 rdfs:label Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells CD8陽性、αβTEM TT細胞割合の異常 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0020178 rdfs:label Abnormal dendritic cell count 樹状細胞数の異常 2023-07-31 EXACT OFFICIAL @@ -9577,7 +9577,7 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0020199 rdfs:label Decreased circulating 18-hydroxycortisone level 循環18-ヒドロキシコルチゾン濃度の低下 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0020200 rdfs:label Increased circulating 18-hydroxycortisone level 循環18-ヒドロキシコルチゾン濃度の上昇 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0020201 rdfs:label Abnormal sarcomere morphology サルコメアの形態異常 2023-07-31 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0020202 rdfs:label Abnormal Z disc morphology Zディスク形態異常 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0020202 rdfs:label Abnormal Z disk morphology Zディスク形態異常 2023-07-31 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0020203 rdfs:label Z-band streaming Zバンドストリーミング 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0020204 rdfs:label Tubulointerstitial bacterial infiltration 尿細管間質細菌浸潤 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0020205 rdfs:label Tubulointerstitial fungal infiltration 管間質真菌浸潤 2023-07-31 EXACT OFFICIAL @@ -10543,7 +10543,7 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030269 rdfs:label Increased circulating insulin-like growth factor 1 concentration 循環インスリン様成長因子1濃度の上昇 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030270 rdfs:label Elevated red cell adenosine deaminase activity 赤血球アデノシンデアミナーゼ値の上昇 2023-07-31 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030271 rdfs:label Reduced erythrocyte 2,3-diphosphoglycerate concentration 赤血球2,3-ジホスホグリセリド濃度の低下 2023-07-31 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030272 rdfs:label Abnormal erythrocyte enzyme level 赤血球酵素濃度異常 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030272 rdfs:label Abnormal erythrocyte enzyme concentration or activity 赤血球酵素濃度異常 2023-07-31 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030273 rdfs:label Reduced red cell adenosine deaminase level 赤血球アデノシンデアミナーゼ濃度低下 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030274 rdfs:label Accessory scrotum 付属陰嚢 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030275 rdfs:label Ectopic scrotum 異所性陰嚢 2023-07-31 EXACT OFFICIAL @@ -10568,7 +10568,7 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030296 rdfs:label Metaphyseal chondromatosis of radius 橈骨骨幹部軟骨腫症 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030297 rdfs:label Metaphyseal chondromatosis of ulna 尺骨骨幹部軟骨腫症 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030298 rdfs:label Metaphyseal chondromatosis of humerus 上腕骨骨幹部軟骨腫症 2023-07-31 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030299 rdfs:label Distal femoral metaphyseal abnormality 大腿骨遠位骨幹部異常症 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030299 rdfs:label Abnormal distal femoral metaphysis morphology 大腿骨遠位骨幹部異常症 2023-07-31 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030300 rdfs:label 10 pairs of ribs 10対の肋骨 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030301 rdfs:label Abnormality of the anterior commissure 前交連異常症 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030302 rdfs:label Agenesis of the anterior commissure 前交連形成不全 2023-07-31 EXACT OFFICIAL @@ -10617,7 +10617,7 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030351 rdfs:label Urticarial plaque 蕁麻疹斑 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030352 rdfs:label Abnormal serum insulin-like growth factor 1 level 血清インスリン様成長因子1値の異常 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030353 rdfs:label Decreased serum insulin-like growth factor 1 血清インスリン様成長因子1の減少 2023-07-31 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030354 rdfs:label Abnormal circulating interferon concentration 循環インターフェロン濃度異常 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030354 rdfs:label obsolete Abnormal circulating interferon concentration 循環インターフェロン濃度異常 2023-07-31 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030355 rdfs:label Abnormal circulating interferon-gamma concentration 循環インターフェロン-γ濃度異常 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030356 rdfs:label Increased circulating interferon-gamma concentration 循環インターフェロン-γ濃度の上昇 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030357 rdfs:label Small cell lung carcinoma 小細胞肺がん 2023-07-31 EXACT OFFICIAL @@ -11020,7 +11020,7 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030779 rdfs:label Ethmocephaly 他頭症 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030780 rdfs:label Abnormality of the protein C anticoagulant pathway プロテインC抗凝固経路の異常 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030781 rdfs:label Increased circulating free fatty acid level 循環遊離脂肪酸値の上昇 2023-07-31 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030782 rdfs:label Abnormal circulating interleukin concentration 循環インターロイキン濃度異常 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030782 rdfs:label obsolete Abnormal circulating interleukin concentration 循環インターロイキン濃度異常 2023-07-31 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030783 rdfs:label Increased circulating interleukin 6 concentration 循環インターロイキン6濃度の上昇 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030784 rdfs:label Anomic aphasia アノミック失語症 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0030785 rdfs:label Mediastinal cystic lymphangioma 縦隔嚢胞性リンパ管腫 2023-07-31 EXACT OFFICIAL @@ -11328,7 +11328,7 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0031097 rdfs:label Abnormal thyroid-stimulating hormone level 甲状腺刺激ホルモン値の異常 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0031098 rdfs:label Decreased thyroid-stimulating hormone level 甲状腺刺激ホルモン値の低下 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0031099 rdfs:label Abnormal circulating inhibin level 循環インヒビン値異常 2023-07-31 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0031100 rdfs:label Decreased inhibin B level インヒビンB値の低下 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0031100 rdfs:label Decreased circulating inhibin B concentration インヒビンB値の低下 2023-07-31 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0031101 rdfs:label Abnormal circulating antimullerian hormone concentration 循環抗ミュラーホルモン濃度異常 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0031102 rdfs:label Increased circulating antimullerian hormone concentration 循環抗ミュラーホルモン濃度の上昇 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0031103 rdfs:label Decreased cirrculating antimullerian hormone circulation 循環抗ミュラーホルモン濃度の低下 2023-07-31 EXACT OFFICIAL @@ -11361,7 +11361,7 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0031135 rdfs:label Triggered by physical trauma 物理的外傷により誘発される。 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0031136 rdfs:label Decreased acrosin in sperm head 精子頭部のアクロシンの減少 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0031137 rdfs:label Storage in hepatocytes 肝細胞における貯蔵 2023-07-31 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0031138 rdfs:label Abnormal B-type natriuretic peptide concentration B型ナトリウム利尿ペプチド濃度の異常 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0031138 rdfs:label Abnormal circulating B-type natriuretic peptide concentration B型ナトリウム利尿ペプチド濃度の異常 2023-07-31 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0031139 rdfs:label Frog-leg posture フロッグレッグ姿勢 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0031140 rdfs:label Abnormal liver sonography 肝超音波異常 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0031141 rdfs:label Increased hepatic echogenicity 肝エコー原性の亢進 2023-07-31 EXACT OFFICIAL @@ -12447,7 +12447,7 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0032269 rdfs:label Lemon sign レモン徴候 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0032270 rdfs:label Optic nerve tram-track sign 視神経走行痕徴候 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0032271 rdfs:label Extrapulmonary tuberculosis 肺外結核 2023-07-31 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0032272 rdfs:label Elevated urinary N-acetylaspartic acid level 尿中N-アセチルアスパラギン酸値の上昇 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0032272 rdfs:label obsolete Elevated urinary N-acetylaspartic acid level 尿中N-アセチルアスパラギン酸値の上昇 2023-07-31 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0032273 rdfs:label Increased circulating N-acetylaspartic acid concentration 循環N-アセチルアスパラギン酸濃度の上昇 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0032274 rdfs:label Increased CSF N-acetylaspartic acid concentration CSF N-アセチルアスパラギン酸濃度の上昇 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0032275 rdfs:label Recurrent shingles 帯状疱疹の再発 2023-07-31 EXACT OFFICIAL @@ -12694,7 +12694,7 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0032527 rdfs:label Inferiorly positioned umbilicus 臍の位置の低下 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0032528 rdfs:label Elevated urinary 4-hydroxybutyric acid 尿中4-ヒドロキシ酪酸上昇 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0032529 rdfs:label obsolete Elevated circulating gamma-aminobutyric acid concentration 循環ガンマアミノ酪酸濃度の上昇 2023-07-31 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0032530 rdfs:label Decreased succinic semialdehyde dehydrogenase level コハク酸セミアルデヒド脱水素酵素値の低下 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0032530 rdfs:label Decreased tissue succinic semialdehyde dehydrogenase activity コハク酸セミアルデヒド脱水素酵素値の低下 2023-07-31 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0032531 rdfs:label Elevated CSF gamma-aminobutyric acid concentration CSFガンマアミノ酪酸濃度の上昇 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0032532 rdfs:label Elevated CSF 4-hydroxybutyric acid concentration CSF4-ヒドロキシ酪酸濃度の上昇 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0032533 rdfs:label Elevated circulating acetone concentration 循環アセトン濃度の上昇 2023-07-31 EXACT OFFICIAL @@ -15157,7 +15157,7 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0034992 rdfs:label Thumb adduction contracture 母指内転拘縮 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0034993 rdfs:label Hip internal rotation contracture 股関節内旋拘縮 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0034994 rdfs:label obsolete Elevated circulating saccharopine concentration 循環サッカロピン濃度の上昇 2023-07-31 EXACT CANDIDATE -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0034995 rdfs:label Reduced hepatic fructose-1,6-bisphosphatase activity 肝フルクトース-1,6-ビスホスファターゼ活性の低下 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0034995 rdfs:label Reduced tissue fructose-1,6-bisphosphatase activity 肝フルクトース-1,6-ビスホスファターゼ活性の低下 2023-07-31 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0034996 rdfs:label Reduced hepatic carbamoylphosphate synthetase 1 activity 肝カルバモイルリン酸合成酵素活性の低下 2023-07-31 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0034997 rdfs:label Reduced intraepidermal small nerve fiber density 表皮内小神経線維密度の減少 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0034998 rdfs:label Femoral artery duplication 大腿動脈重複症 2023-07-31 EXACT OFFICIAL @@ -15222,7 +15222,7 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040054 rdfs:label Short upper eyelashes 上まつげが短い 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040055 rdfs:label Short lower eyelashes 下まつげが短い 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040056 rdfs:label Absent upper eyelashes 上まつげの異常 2023-07-31 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040057 rdfs:label Abnormality of nasal hair 鼻毛の異常 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040057 rdfs:label Abnormal nasal hair morphology 鼻毛の異常 2023-07-31 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040059 rdfs:label Calcification of ribs 肋骨の石灰化 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040061 rdfs:label Osteosclerosis of the radius 橈骨骨硬化症 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040062 rdfs:label Slender radius 細い橈骨 2023-07-31 EXACT OFFICIAL @@ -15287,7 +15287,7 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040127 rdfs:label Abnormal sweat homeostasis 汗の恒常性異常 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040128 rdfs:label Abnormal sweat electrolytes 汗の電解質異常 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040129 rdfs:label Abnormal nerve conduction velocity 神経伝導速度異常 2023-07-31 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040130 rdfs:label Abnormal serum iron concentration 血清鉄濃度異常 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040130 rdfs:label Abnormal circulating iron concentration 血清鉄濃度異常 2023-07-31 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040131 rdfs:label Abnormal motor nerve conduction velocity 運動神経伝導速度の異常 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040132 rdfs:label Abnormal sensory nerve conduction velocity 感覚神経伝導速度異常 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040133 rdfs:label Abnormal circulating ferritin concentration 循環フェリチン濃度異常 2023-07-31 EXACT OFFICIAL @@ -15298,7 +15298,7 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040139 rdfs:label Lipogranulomatosis 脂肪肉芽腫症 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040140 rdfs:label Degeneration of the striatum 線条体の変性 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040141 rdfs:label Tardive dyskinesia 遅発性ジスキネジア 2023-07-31 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040142 rdfs:label Reduced 5-oxoprolinase level 5-オキソプロリナーゼ値の低下 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040142 rdfs:label Reduced circulating 5-oxoprolinase activity 5-オキソプロリナーゼ値の低下 2023-07-31 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040143 rdfs:label Dystopic os odontoideum 脊柱起立筋ジストロフィー 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040144 rdfs:label L-2-hydroxyglutaric aciduria L-2-ヒドロキシグルタル酸尿症 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040145 rdfs:label Dicarboxylic acidemia ジカルボン酸血症 2023-07-31 EXACT OFFICIAL @@ -15454,7 +15454,7 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040300 rdfs:label Abnormal circulating free fatty acid concentration 循環遊離脂肪酸濃度の異常 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040301 rdfs:label Increased urinary glycerol 尿中グリセロール増加 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040302 rdfs:label Hyperglycerolemia 高グリセロール血症 2023-07-31 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040303 rdfs:label Decreased serum iron 血清鉄の減少 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040303 rdfs:label Decreased circulating iron concentration 血清鉄の減少 2023-07-31 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040304 rdfs:label Duplication of the sella turcica トルコ鞍重複症 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040305 rdfs:label Increased male libido 男性の性欲亢進 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0040306 rdfs:label Decreased male libido 男性の性欲減退 2023-07-31 EXACT OFFICIAL @@ -16624,7 +16624,7 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0100959 rdfs:label Dense metaphyseal bands 濃い骨幹端バンド 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0100960 rdfs:label Lateral ventricular asymmetry 非対称性脳室 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0100961 rdfs:label Enlarged hippocampus 海馬拡大 2023-07-31 1.0 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0100962 rdfs:label Shyness はずかしがり 2023-07-31 1.0 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0100962 rdfs:label Excessive shyness はずかしがり 2023-07-31 1.0 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0100963 rdfs:label Hyperesthesia 知覚過敏 2023-07-31 1.0 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0200000 rdfs:label Dysharmonic skeletal maturation 不調和な骨年齢 2023-07-31 1.0 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0200001 rdfs:label Dysharmonic accelerated bone age 不調和な骨年齢促進 2023-07-31 1.0 EXACT OFFICIAL @@ -16850,13 +16850,13 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0410189 rdfs:label Increased glucose-6-phosphate dehydrogenase level in red blood cells 赤血球中のグルコース-6-リン酸デヒドロゲナーゼ量の増加 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0410190 rdfs:label Decreased glucose-6-phosphate dehydrogenase level in leukocytes 白血球中のグルコース-6-リン酸デヒドロゲナーゼ値の減少 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0410191 rdfs:label Increased glucose-6-phosphate dehydrogenase level in leukocytes 白血球中のグルコース-6-リン酸デヒドロゲナーゼ値の増加 2023-07-31 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0410192 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level ウリジン二リン酸グルコース-4-エピメラーゼ値の異常 2023-07-31 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0410193 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level in plasma 血漿中ウリジン二リン酸グルコース-4-エピメラーゼ値異常 2023-07-31 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0410194 rdfs:label Increased uridine diphosphate glucose-4-epimerase level in plasma 血漿中ウリジン二リン酸グルコース-4-エピメラーゼ値の上昇 2023-07-31 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0410195 rdfs:label Decreased uridine diphosphate glucose-4-epimerase level in plasma 血漿中ウリジン二リン酸グルコース-4-エピメラーゼ値の低下 2023-07-31 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0410196 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells 赤血球中のウリジン二リン酸グルコース-4-エピメラーゼ値の異常 2023-07-31 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0410197 rdfs:label Increased uridine diphosphate glucose-4-epimerase level in red blood cells 赤血球中のウリジン二リン酸グルコース-4-エピメラーゼ値の上昇 2023-07-31 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0410198 rdfs:label Decreased uridine diphosphate glucose-4-epimerase level in red blood cells 赤血球中のウリジン二リン酸グルコース-4-エピメラーゼ値の減少 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0410192 rdfs:label obsolete Abnormal uridine diphosphate glucose-4-epimerase level ウリジン二リン酸グルコース-4-エピメラーゼ値の異常 2023-07-31 EXACT CANDIDATE +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0410193 rdfs:label Abnormal circulating UDP glucose-4-epimerase concentration 血漿中ウリジン二リン酸グルコース-4-エピメラーゼ値異常 2023-07-31 EXACT CANDIDATE +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0410194 rdfs:label Increased circulating UDP glucose-4-epimerase concentration 血漿中ウリジン二リン酸グルコース-4-エピメラーゼ値の上昇 2023-07-31 EXACT CANDIDATE +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0410195 rdfs:label Decreased circulating UDP glucose-4-epimerase concentration 血漿中ウリジン二リン酸グルコース-4-エピメラーゼ値の低下 2023-07-31 EXACT CANDIDATE +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0410196 rdfs:label Abnormal erythrocyte UDP glucose-4-epimerase concentration 赤血球中のウリジン二リン酸グルコース-4-エピメラーゼ値の異常 2023-07-31 EXACT CANDIDATE +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0410197 rdfs:label Increased erythrocyte UDP glucose-4-epimerase concentration 赤血球中のウリジン二リン酸グルコース-4-エピメラーゼ値の上昇 2023-07-31 EXACT CANDIDATE +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0410198 rdfs:label Decreased erythrocyte UDP glucose-4-epimerase concentration 赤血球中のウリジン二リン酸グルコース-4-エピメラーゼ値の減少 2023-07-31 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0410199 rdfs:label Increased CSF urate concentration CSF尿酸塩濃度の上昇 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0410200 rdfs:label Positive meconium barbiturate test メコニウムバルビツール酸試験陽性 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:0410201 rdfs:label Positive hair barbiturate test 毛髪バルビツール酸検査陽性 2023-07-31 EXACT OFFICIAL @@ -17345,7 +17345,7 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:4000024 rdfs:label Anti-laminin antibody positivity 抗ラミニン抗体陽性 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:4000025 rdfs:label Anti-integrin antibody positivity 抗インテグリン抗体陽性 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:4000026 rdfs:label Anti-transglutaminase 6 antibody 抗トランスグルタミナーゼ6抗体陽性 2023-07-31 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:4000027 rdfs:label anti-LAD-1 antibody positivity 抗LAD-1抗体陽性 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:4000027 rdfs:label Anti-LAD-1 antibody positivity 抗LAD-1抗体陽性 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:4000028 rdfs:label Anti-LABD97 antibody positivity 抗LABD97抗体陽性 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:4000029 rdfs:label Antigliadin antibody positivity 抗グリアジン抗体陽性 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:4000030 rdfs:label Anti-reticulin antibody positivity 抗レティキュリン抗体陽性 2023-07-31 EXACT OFFICIAL @@ -17551,9 +17551,9 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:5200014 rdfs:label Exaggerated facial expression 誇張した表情 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:5200015 rdfs:label Muted facial expression 無表情 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:5200016 rdfs:label Abnormal peer relationships 異常な仲間関係 2023-07-31 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:5200017 rdfs:label Abnormal movements of face and head 顔や頭の異常な動き 2023-07-31 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:5200018 rdfs:label Abnormal movements of the upper extremities 上肢の異常な動き 2023-07-31 EXACT OFFICIAL -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:5200019 rdfs:label Abnormal movements of the whole body 全身の異常な動き 2023-07-31 EXACT OFFICIAL +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:5200017 rdfs:label Steroetypic movements of face and head 顔や頭の異常な動き 2023-07-31 EXACT CANDIDATE +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:5200018 rdfs:label Steroetypic upper-extremity movements 上肢の異常な動き 2023-07-31 EXACT CANDIDATE +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:5200019 rdfs:label Stereotypic whole-body movements 全身の異常な動き 2023-07-31 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:5200020 rdfs:label Abnormal interest in others 他者への異常な関心 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:5200021 rdfs:label Reduced social insight 社会的洞察力の低下 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:5200022 rdfs:label Reduced awareness of convention 慣例意識の低下 2023-07-31 EXACT OFFICIAL @@ -17568,7 +17568,7 @@ http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:5200032 rdfs:label obsolete Reduced immediate imitation of others 他者の即時的模倣の減少 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:5200035 rdfs:label Reduced cooperative imaginative play 共同的な想像遊びの減少 2023-07-31 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:5200036 rdfs:label Reduced responsiveness to verbal cues 言葉による合図に反応しない。 2023-07-31 EXACT CANDIDATE -http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:5200037 rdfs:label Lack of expressed empath 交感神経表現の減少 2023-07-31 EXACT CANDIDATE +http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:5200037 rdfs:label Lack of expressed empathy 交感神経表現の減少 2023-07-31 EXACT CANDIDATE http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:5200038 rdfs:label Bradylalia ブラディラリア 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:5200039 rdfs:label Excessively loud speech 声が大きすぎる。 2023-07-31 EXACT OFFICIAL http://purl.obolibrary.org/obo/hp.owl http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl en ja HP:5200040 rdfs:label Excessively quiet voice 過度に小さな声 2023-07-31 EXACT OFFICIAL diff --git a/src/translations/hp-ja.babelon.owl b/src/translations/hp-ja.babelon.owl index 63dc406f9..facd8e65a 100644 --- a/src/translations/hp-ja.babelon.owl +++ b/src/translations/hp-ja.babelon.owl @@ -9,8 +9,8 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:babelon="https://w3id.org/babelon/"> - - 2024-03-06 + + 2024-04-03 @@ -5503,13 +5503,13 @@ 後鼻孔の異常 http://purl.obolibrary.org/obo/hp.owl en - Abnormality of the choanae + Abnormal choanae morphology http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 1.0 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 細い鼻 @@ -9838,13 +9838,13 @@ 常同行動 http://purl.obolibrary.org/obo/hp.owl en - Abnormal repetitive mannerisms + Motor stereotypy http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 1.0 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 脱抑制 @@ -23828,13 +23828,13 @@ ヘモグロビン増加 http://purl.obolibrary.org/obo/hp.owl en - Increased hemoglobin + Increased circulating hemoglobin concentration http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 1.0 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 多血症 @@ -34470,13 +34470,13 @@ 両側性口唇口蓋裂 http://purl.obolibrary.org/obo/hp.owl en - Bilateral cleft lip and palate + obsolete Bilateral cleft lip and palate http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 1.0 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 口腔ロイコプラキア @@ -43089,13 +43089,13 @@ 血清鉄増加 http://purl.obolibrary.org/obo/hp.owl en - Increased serum iron + Increased circulating iron concentration http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 1.0 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 抗好中球抗体陽性 @@ -44704,13 +44704,13 @@ 4-Hydroxyphenylpyruvate dioxygenase 活性減少 http://purl.obolibrary.org/obo/hp.owl en - Reduced 4-Hydroxyphenylpyruvate dioxygenase level + Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 1.0 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 尿中エピネフリン上昇 @@ -53408,13 +53408,13 @@ 補体欠乏症 http://purl.obolibrary.org/obo/hp.owl en - Complement deficiency + Reduced circulating complement concentration http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 1.0 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 無ガンマグロブリン血症 @@ -61823,13 +61823,13 @@ 鼻唇領域の異常 http://purl.obolibrary.org/obo/hp.owl en - Abnormality of the nasolabial region + Abnormal nasolabial region morphology http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 1.0 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 内頚動脈低形成 @@ -72532,13 +72532,13 @@ 幅広い大腿骨骨幹端 http://purl.obolibrary.org/obo/hp.owl en - Broad femoral metaphyses + Wide femoral metaphysis http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 1.0 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 非対称性橈骨異形成 @@ -72634,13 +72634,13 @@ 遠位および近位大腿骨の骨幹端異常 http://purl.obolibrary.org/obo/hp.owl en - Proximal femoral metaphyseal abnormality + Abnormal proximal femoral metaphysis morphology http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 1.0 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 台形の遠位大腿骨顆 @@ -92813,13 +92813,13 @@ 椎間板変性 http://purl.obolibrary.org/obo/hp.owl en - Intervertebral disc degeneration + Intervertebral disk degeneration http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 1.0 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 脊椎点状石灰化 @@ -93901,13 +93901,13 @@ 永久歯完全欠損 http://purl.obolibrary.org/obo/hp.owl en - No permanent dentition + obsolete No permanent dentition http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 1.0 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 高度遠視 @@ -93935,13 +93935,13 @@ 正中口唇口蓋裂 http://purl.obolibrary.org/obo/hp.owl en - Median cleft lip and palate + obsolete Median cleft lip and palate http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 1.0 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 中等度の感音難聴 @@ -94785,13 +94785,13 @@ 膀胱肥大 http://purl.obolibrary.org/obo/hp.owl en - Hypertrophy of the urinary bladder + Urinary bladder wall hypertrophy http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 1.0 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 小葉性糸球体症 @@ -106481,13 +106481,13 @@ 時たまの神経線維腫 http://purl.obolibrary.org/obo/hp.owl en - Occasional neurofibromas + obsolete Occasional neurofibromas http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 1.0 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 第2指基節骨無形成 @@ -111309,13 +111309,13 @@ 硝子体動脈遺残 http://purl.obolibrary.org/obo/hp.owl en - Vascular remnant arising from the disc + Vascular remnant arising from the disk http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 1.0 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 鼻の無形成/低形成 @@ -122155,13 +122155,13 @@ 三角形の骨端 http://purl.obolibrary.org/obo/hp.owl en - Triangular epiphyses + Triangular epiphysis http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 1.0 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 早発性骨端骨幹端癒合 @@ -122988,13 +122988,13 @@ 鼻腔の異常 http://purl.obolibrary.org/obo/hp.owl en - Abnormality of the nasal cavity + Abnormal nasal cavity morphology http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 1.0 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 中鼻腔の異常 @@ -130536,13 +130536,13 @@ 血清サイトカイン値の異常 http://purl.obolibrary.org/obo/hp.owl en - Abnormality of serum cytokine level + Abnormal circulating cytokine concentration http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 1.0 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE サイトカイン分泌の異常 @@ -130587,13 +130587,13 @@ ケモカイン分泌の異常 http://purl.obolibrary.org/obo/hp.owl en - Abnormality of chemokine secretion + Abnormal circulating chemokine concentration http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 1.0 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE インターフェロン分泌の異常 @@ -130604,13 +130604,13 @@ インターフェロン分泌の異常 http://purl.obolibrary.org/obo/hp.owl en - Abnormality of interferon secretion + Abnormal circulating interferon concentration http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 1.0 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE インターロイキン分泌の異常 @@ -130621,13 +130621,13 @@ インターロイキン分泌の異常 http://purl.obolibrary.org/obo/hp.owl en - Abnormality of interleukin secretion + Abnormal circulating interleukin concentration http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 1.0 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 腫瘍壊死因子分泌の異常 @@ -154132,13 +154132,13 @@ カタラーゼ活性減少 http://purl.obolibrary.org/obo/hp.owl en - Reduced catalase level + Reduced circulating catalase activity http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 1.0 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE Willis 輪の異常 @@ -160775,12 +160775,12 @@ ヘモグロビン濃度の上昇 http://purl.obolibrary.org/obo/hp.owl en - Increased hemoglobin concentration + obsolete Increased hemoglobin concentration http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 好酸球数の異常 @@ -162343,12 +162343,12 @@ コリンエステラーゼ値の低下 http://purl.obolibrary.org/obo/hp.owl en - Reduced cholinesterase level + Reduced circulating cholinesterase activity http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE コレステロール結晶尿 @@ -162775,12 +162775,12 @@ Zディスク形態異常 http://purl.obolibrary.org/obo/hp.owl en - Abnormal Z disc morphology + Abnormal Z disk morphology http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE Zバンドストリーミング @@ -178231,12 +178231,12 @@ 赤血球酵素濃度異常 http://purl.obolibrary.org/obo/hp.owl en - Abnormal erythrocyte enzyme level + Abnormal erythrocyte enzyme concentration or activity http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 赤血球アデノシンデアミナーゼ濃度低下 @@ -178631,12 +178631,12 @@ 大腿骨遠位骨幹部異常症 http://purl.obolibrary.org/obo/hp.owl en - Distal femoral metaphyseal abnormality + Abnormal distal femoral metaphysis morphology http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 10対の肋骨 @@ -179415,12 +179415,12 @@ 循環インターフェロン濃度異常 http://purl.obolibrary.org/obo/hp.owl en - Abnormal circulating interferon concentration + obsolete Abnormal circulating interferon concentration http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 循環インターフェロン-γ濃度異常 @@ -185863,12 +185863,12 @@ 循環インターロイキン濃度異常 http://purl.obolibrary.org/obo/hp.owl en - Abnormal circulating interleukin concentration + obsolete Abnormal circulating interleukin concentration http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 循環インターロイキン6濃度の上昇 @@ -190791,12 +190791,12 @@ インヒビンB値の低下 http://purl.obolibrary.org/obo/hp.owl en - Decreased inhibin B level + Decreased circulating inhibin B concentration http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 循環抗ミュラーホルモン濃度異常 @@ -191319,12 +191319,12 @@ B型ナトリウム利尿ペプチド濃度の異常 http://purl.obolibrary.org/obo/hp.owl en - Abnormal B-type natriuretic peptide concentration + Abnormal circulating B-type natriuretic peptide concentration http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE フロッグレッグ姿勢 @@ -208695,12 +208695,12 @@ 尿中N-アセチルアスパラギン酸値の上昇 http://purl.obolibrary.org/obo/hp.owl en - Elevated urinary N-acetylaspartic acid level + obsolete Elevated urinary N-acetylaspartic acid level http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 循環N-アセチルアスパラギン酸濃度の上昇 @@ -212647,12 +212647,12 @@ コハク酸セミアルデヒド脱水素酵素値の低下 http://purl.obolibrary.org/obo/hp.owl en - Decreased succinic semialdehyde dehydrogenase level + Decreased tissue succinic semialdehyde dehydrogenase activity http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE CSFガンマアミノ酪酸濃度の上昇 @@ -252055,12 +252055,12 @@ 肝フルクトース-1,6-ビスホスファターゼ活性の低下 http://purl.obolibrary.org/obo/hp.owl en - Reduced hepatic fructose-1,6-bisphosphatase activity + Reduced tissue fructose-1,6-bisphosphatase activity http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 肝カルバモイルリン酸合成酵素活性の低下 @@ -253095,12 +253095,12 @@ 鼻毛の異常 http://purl.obolibrary.org/obo/hp.owl en - Abnormality of nasal hair + Abnormal nasal hair morphology http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 肋骨の石灰化 @@ -254135,12 +254135,12 @@ 血清鉄濃度異常 http://purl.obolibrary.org/obo/hp.owl en - Abnormal serum iron concentration + Abnormal circulating iron concentration http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 運動神経伝導速度の異常 @@ -254311,12 +254311,12 @@ 5-オキソプロリナーゼ値の低下 http://purl.obolibrary.org/obo/hp.owl en - Reduced 5-oxoprolinase level + Reduced circulating 5-oxoprolinase activity http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 脊柱起立筋ジストロフィー @@ -256807,12 +256807,12 @@ 血清鉄の減少 http://purl.obolibrary.org/obo/hp.owl en - Decreased serum iron + Decreased circulating iron concentration http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE トルコ鞍重複症 @@ -276440,13 +276440,13 @@ はずかしがり http://purl.obolibrary.org/obo/hp.owl en - Shyness + Excessive shyness http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 1.0 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 知覚過敏 @@ -280162,12 +280162,12 @@ ウリジン二リン酸グルコース-4-エピメラーゼ値の異常 http://purl.obolibrary.org/obo/hp.owl en - Abnormal uridine diphosphate glucose-4-epimerase level + obsolete Abnormal uridine diphosphate glucose-4-epimerase level http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 血漿中ウリジン二リン酸グルコース-4-エピメラーゼ値異常 @@ -280178,12 +280178,12 @@ 血漿中ウリジン二リン酸グルコース-4-エピメラーゼ値異常 http://purl.obolibrary.org/obo/hp.owl en - Abnormal uridine diphosphate glucose-4-epimerase level in plasma + Abnormal circulating UDP glucose-4-epimerase concentration http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 血漿中ウリジン二リン酸グルコース-4-エピメラーゼ値の上昇 @@ -280194,12 +280194,12 @@ 血漿中ウリジン二リン酸グルコース-4-エピメラーゼ値の上昇 http://purl.obolibrary.org/obo/hp.owl en - Increased uridine diphosphate glucose-4-epimerase level in plasma + Increased circulating UDP glucose-4-epimerase concentration http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 血漿中ウリジン二リン酸グルコース-4-エピメラーゼ値の低下 @@ -280210,12 +280210,12 @@ 血漿中ウリジン二リン酸グルコース-4-エピメラーゼ値の低下 http://purl.obolibrary.org/obo/hp.owl en - Decreased uridine diphosphate glucose-4-epimerase level in plasma + Decreased circulating UDP glucose-4-epimerase concentration http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 赤血球中のウリジン二リン酸グルコース-4-エピメラーゼ値の異常 @@ -280226,12 +280226,12 @@ 赤血球中のウリジン二リン酸グルコース-4-エピメラーゼ値の異常 http://purl.obolibrary.org/obo/hp.owl en - Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells + Abnormal erythrocyte UDP glucose-4-epimerase concentration http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 赤血球中のウリジン二リン酸グルコース-4-エピメラーゼ値の上昇 @@ -280242,12 +280242,12 @@ 赤血球中のウリジン二リン酸グルコース-4-エピメラーゼ値の上昇 http://purl.obolibrary.org/obo/hp.owl en - Increased uridine diphosphate glucose-4-epimerase level in red blood cells + Increased erythrocyte UDP glucose-4-epimerase concentration http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 赤血球中のウリジン二リン酸グルコース-4-エピメラーゼ値の減少 @@ -280258,12 +280258,12 @@ 赤血球中のウリジン二リン酸グルコース-4-エピメラーゼ値の減少 http://purl.obolibrary.org/obo/hp.owl en - Decreased uridine diphosphate glucose-4-epimerase level in red blood cells + Decreased erythrocyte UDP glucose-4-epimerase concentration http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE CSF尿酸塩濃度の上昇 @@ -288082,7 +288082,7 @@ 抗LAD-1抗体陽性 http://purl.obolibrary.org/obo/hp.owl en - anti-LAD-1 antibody positivity + Anti-LAD-1 antibody positivity http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 ja @@ -291378,12 +291378,12 @@ 顔や頭の異常な動き http://purl.obolibrary.org/obo/hp.owl en - Abnormal movements of face and head + Steroetypic movements of face and head http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 上肢の異常な動き @@ -291394,12 +291394,12 @@ 上肢の異常な動き http://purl.obolibrary.org/obo/hp.owl en - Abnormal movements of the upper extremities + Steroetypic upper-extremity movements http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 全身の異常な動き @@ -291410,12 +291410,12 @@ 全身の異常な動き http://purl.obolibrary.org/obo/hp.owl en - Abnormal movements of the whole body + Stereotypic whole-body movements http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 ja EXACT - OFFICIAL + CANDIDATE 他者への異常な関心 @@ -291650,7 +291650,7 @@ 交感神経表現の減少 http://purl.obolibrary.org/obo/hp.owl en - Lack of expressed empath + Lack of expressed empathy http://purl.obolibrary.org/obo/hp/releases/2023-07-21/hp.owl 2023-07-31 ja diff --git a/src/translations/hp-nl-changed.babelon.tsv b/src/translations/hp-nl-changed.babelon.tsv index c89f95f14..4db1fef6c 100644 --- a/src/translations/hp-nl-changed.babelon.tsv +++ b/src/translations/hp-nl-changed.babelon.tsv @@ -14,9 +14,13 @@ en nl HP:0000204 IAO:0000115 A gap in the upper lip. This is a congenital defect en nl HP:0000326 rdfs:label Abnormality of the maxilla Afwijking van de maxilla CANDIDATE en nl HP:0000372 IAO:0000115 An abnormality of the External acoustic tube (also known as the auditory canal) An abnormality of the External acoustic tube (also known as the auditory canal) NOT_TRANSLATED en nl HP:0000372 rdfs:label Abnormality of the auditory canal Afwijking van de gehoorgang CANDIDATE +en nl HP:0000415 rdfs:label Abnormality of the choanae Afwijking van de choanae CANDIDATE +en nl HP:0000543 IAO:0000115 A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression NOT_TRANSLATED en nl HP:0000587 rdfs:label Abnormality of the optic nerve Afwijking van de oogzenuw CANDIDATE en nl HP:0000618 IAO:0000115 Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation NOT_TRANSLATED +en nl HP:0000657 IAO:0000115 Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex NOT_TRANSLATED en nl HP:0000677 IAO:0000115 The absence of six or more teeth from the normal series by a failurento develop The absence of six or more teeth from the normal series by a failurento develop NOT_TRANSLATED +en nl HP:0000683 IAO:0000115 A grey discoloration of the dental enamel A grey discoloration of the dental enamel NOT_TRANSLATED en nl HP:0000708 IAO:0000115 An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities NOT_TRANSLATED en nl HP:0000708 rdfs:label Behavioral abnormality Gedragsabnormaliteit CANDIDATE en nl HP:0000709 IAO:0000115 A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs NOT_TRANSLATED @@ -31,7 +35,6 @@ en nl HP:0000722 rdfs:label Obsessive-compulsive behavior Obsessief-compulsief g en nl HP:0000723 IAO:0000115 Behavior characterized by an abnormal limitation to few interests and activities Behavior characterized by an abnormal limitation to few interests and activities NOT_TRANSLATED en nl HP:0000732 rdfs:label Inflexible adherence to routines or rituals Rigide vasthouden aan routines of rituelen CANDIDATE en nl HP:0000733 IAO:0000115 A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral NOT_TRANSLATED -en nl HP:0000733 rdfs:label Motor stereotypy Stereotypie CANDIDATE en nl HP:0000734 IAO:0000115 A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment NOT_TRANSLATED en nl HP:0000735 rdfs:label Impaired social interactions Verminderde sociale interacties CANDIDATE en nl HP:0000736 IAO:0000115 Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder NOT_TRANSLATED @@ -62,6 +65,7 @@ en nl HP:0001167 rdfs:label Abnormality of finger Afwijking van vinger CANDIDATE en nl HP:0001180 rdfs:label Hand oligodactyly Hand oligodactylie CANDIDATE en nl HP:0001218 IAO:0000115 Spontaneous detachment (amputation) of an appendage from the body Spontaneous detachment (amputation) of an appendage from the body NOT_TRANSLATED en nl HP:0001249 IAO:0000115 Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70 Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70 NOT_TRANSLATED +en nl HP:0001250 IAO:0000115 A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain NOT_TRANSLATED en nl HP:0001254 IAO:0000115 A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating NOT_TRANSLATED en nl HP:0001259 IAO:0000115 Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli NOT_TRANSLATED en nl HP:0001279 IAO:0000115 Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow NOT_TRANSLATED @@ -84,16 +88,20 @@ en nl HP:0001761 IAO:0000115 The presence of an unusually high plantar arch. Als en nl HP:0001780 rdfs:label Abnormality of toe Afwijking van teen CANDIDATE en nl HP:0001844 rdfs:label Abnormality of the hallux Afwijking van de hallux CANDIDATE en nl HP:0001868 IAO:0000115 Spontaneous detachment of a foot from the body Spontaneous detachment of a foot from the body NOT_TRANSLATED +en nl HP:0001900 rdfs:label Increased hemoglobin Verhoogd hemoglobine CANDIDATE en nl HP:0002006 rdfs:label Facial cleft Faciale cleft CANDIDATE en nl HP:0002039 IAO:0000115 A lack or loss of appetite for food (as a medical condition) A lack or loss of appetite for food (as a medical condition) NOT_TRANSLATED en nl HP:0002047 IAO:0000115 Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine NOT_TRANSLATED en nl HP:0002062 rdfs:label Morphological abnormality of the pyramidal tract Morfologische afwijking van de piramidebaan CANDIDATE +en nl HP:0002121 IAO:0000115 A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features NOT_TRANSLATED +en nl HP:0002123 IAO:0000115 A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus NOT_TRANSLATED en nl HP:0002143 IAO:0000115 An abnormality of the spinal cord (myelon) An abnormality of the spinal cord (myelon) NOT_TRANSLATED en nl HP:0002143 rdfs:label Abnormality of the spinal cord Afwijking van de ruggenmerg CANDIDATE en nl HP:0002151 rdfs:label Increased serum lactate Verhoogd serum lactaat CANDIDATE en nl HP:0002167 rdfs:label Neurological speech impairment Neurologisch spraakgebrek CANDIDATE en nl HP:0002193 IAO:0000115 Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc NOT_TRANSLATED en nl HP:0002193 rdfs:label Pseudobulbar behavioral symptoms Pseudobulbaire gedrags symptomen CANDIDATE +en nl HP:0002224 IAO:0000115 The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter NOT_TRANSLATED en nl HP:0002235 IAO:0000115 Uncombable hair Uncombable hair NOT_TRANSLATED en nl HP:0002244 IAO:0000115 An abnormality of the small intestine An abnormality of the small intestine NOT_TRANSLATED en nl HP:0002244 rdfs:label Abnormality of the small intestine Afwijking van de dunne darm CANDIDATE @@ -104,6 +112,7 @@ en nl HP:0002360 rdfs:label Sleep disturbance Slaapstoornis CANDIDATE en nl HP:0002367 IAO:0000115 Visual perceptions that are not elicited by a corresponding stimulus from the outside world Visual perceptions that are not elicited by a corresponding stimulus from the outside world NOT_TRANSLATED en nl HP:0002367 rdfs:label Visual hallucinations Visuele hallucinaties CANDIDATE en nl HP:0002461 rdfs:label Dense calcifications in the cerebellar dentate nucleus Dichte calcificaties in de cerebellaire nucleus dentatus CANDIDATE +en nl HP:0002476 IAO:0000115 The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant NOT_TRANSLATED en nl HP:0002492 rdfs:label Morphological abnormality of the corticospinal tract Afwijking van de corticospinale banen CANDIDATE en nl HP:0002494 IAO:0000115 Abnormality of REM sleep. Phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tonus except for the eye and middle-ear muscles. There are then phases of rapid eye movements Abnormality of REM sleep. Phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tonus except for the eye and middle-ear muscles. There are then phases of rapid eye movements NOT_TRANSLATED en nl HP:0002514 IAO:0000115 The presence of calcium deposition within brain structures The presence of calcium deposition within brain structures NOT_TRANSLATED @@ -113,6 +122,7 @@ en nl HP:0002585 rdfs:label Abnormality of the peritoneum Afwijking van het peri en nl HP:0002664 IAO:0000115 An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour) An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour) NOT_TRANSLATED en nl HP:0002686 rdfs:label Prenatal maternal abnormality Prenatale maternale afwijking CANDIDATE en nl HP:0002693 rdfs:label Abnormality of the skull base Afwijking van de schedel basis CANDIDATE +en nl HP:0002744 rdfs:label Bilateral cleft lip and palate Bilaterale gespleten lip en gehemelte CANDIDATE en nl HP:0002761 IAO:0000115 Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body NOT_TRANSLATED en nl HP:0002761 rdfs:label Generalized joint laxity Gegeneraliseerde gewrichtsmobiliteit CANDIDATE en nl HP:0002813 rdfs:label Abnormality of limb bone morphology Afwijking van ledematen bot morfologie CANDIDATE @@ -133,6 +143,7 @@ en nl HP:0003172 IAO:0000115 An anomaly of the the pubic bone, i.e., of the vent en nl HP:0003172 rdfs:label Abnormality of the pubic bone Afwijking van het os pubis CANDIDATE en nl HP:0003174 rdfs:label Abnormality of the ischium Afwijking van het ischium CANDIDATE en nl HP:0003219 IAO:0000115 An increased concentration of ethylmalonic acid in the urine An increased concentration of ethylmalonic acid in the urine NOT_TRANSLATED +en nl HP:0003220 IAO:0000115 A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration NOT_TRANSLATED en nl HP:0003223 IAO:0000115 Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12 Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12 NOT_TRANSLATED en nl HP:0003223 rdfs:label Decreased methylcobalamin Verminderd methylcobalamine CANDIDATE en nl HP:0003234 IAO:0000115 A decreased concentration of carnitine in the blood A decreased concentration of carnitine in the blood NOT_TRANSLATED @@ -142,27 +153,36 @@ en nl HP:0003310 IAO:0000115 Abnormality of the dens of the axis, which is also en nl HP:0003310 rdfs:label Abnormality of the odontoid process Afwijking van het processus odontoideus CANDIDATE en nl HP:0003345 IAO:0000115 An increased concentration of noradrenaline in the urine An increased concentration of noradrenaline in the urine NOT_TRANSLATED en nl HP:0003345 rdfs:label Elevated urinary norepinephrine Verhoogd urinair norepinefrine CANDIDATE +en nl HP:0003452 rdfs:label Increased serum iron Verhoogd serum ijzer CANDIDATE en nl HP:0003528 rdfs:label Elevated calcitonin Verhoogd calcitonine CANDIDATE en nl HP:0003532 IAO:0000115 An increased concentration of ornithine in the urine An increased concentration of ornithine in the urine NOT_TRANSLATED +en nl HP:0003637 IAO:0000115 An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase level An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase level NOT_TRANSLATED +en nl HP:0003637 rdfs:label Reduced 4-Hydroxyphenylpyruvate dioxygenase level Verminderde 4-hydroxyfenylpyruvaat-dioxygenase activiteit CANDIDATE en nl HP:0003639 IAO:0000115 An increased concentration of adrenaline in the urine An increased concentration of adrenaline in the urine NOT_TRANSLATED en nl HP:0003639 rdfs:label Elevated urinary epinephrine Verhoogd urinair epinefrine CANDIDATE en nl HP:0003657 rdfs:label Granular osmiophilic deposits (GROD) in cells Granular osmiophilic deposits (GROD) in cellen CANDIDATE en nl HP:0003741 rdfs:label Congenital muscular dystrophy Congenitale spierdystrofie CANDIDATE en nl HP:0003763 IAO:0000115 Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep, but also can occcur while the affected individual is awake Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep, but also can occcur while the affected individual is awake NOT_TRANSLATED en nl HP:0003839 rdfs:label Abnormality of upper limb epiphysis morphology Afwijking van de epifyse van bovenste extremiteit morfologie CANDIDATE +en nl HP:0004328 IAO:0000115 An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens) An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens) NOT_TRANSLATED en nl HP:0004342 IAO:0000115 Abnormality of galactoside metabolism. A galactoside is a glycoside (a suger moiety bound to some other moiety) containing galactose Abnormality of galactoside metabolism. A galactoside is a glycoside (a suger moiety bound to some other moiety) containing galactose NOT_TRANSLATED en nl HP:0004362 rdfs:label Abnormality of enteric ganglion morphology Afwijking van enterisch ganglion morfologie CANDIDATE en nl HP:0004372 rdfs:label Reduced consciousness/confusion Verminderd bewustzijn/verwarring CANDIDATE en nl HP:0004376 IAO:0000115 A family of tumours arising in the embryonal remnants of the sympathetic nervous system, which includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma A family of tumours arising in the embryonal remnants of the sympathetic nervous system, which includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma NOT_TRANSLATED +en nl HP:0004398 IAO:0000115 The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the oesophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the oesophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers NOT_TRANSLATED +en nl HP:0004431 rdfs:label Complement deficiency Complement deficiëntie CANDIDATE en nl HP:0004434 IAO:0000115 A reduced level of the complement component C8 in circulation A reduced level of the complement component C8 in circulation NOT_TRANSLATED en nl HP:0004434 rdfs:label Decreased serum complement C8 C8 deficiëntie CANDIDATE en nl HP:0004466 rdfs:label Prolonged brainstem auditory evoked potentials Prolonged brainstem auditory evoked potentials NOT_TRANSLATED +en nl HP:0004857 IAO:0000115 A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin NOT_TRANSLATED en nl HP:0004905 IAO:0000115 A reduced concentration of vitamin A A reduced concentration of vitamin A NOT_TRANSLATED en nl HP:0004905 rdfs:label Low levels of vitamin A Vitamine A-deficiëntie CANDIDATE en nl HP:0005019 rdfs:label Diaphyseal thickening Diafysaire verdikking CANDIDATE en nl HP:0005072 rdfs:label Hyperextensibility at wrists Hyperextensibiliteit van polsen CANDIDATE +en nl HP:0005106 IAO:0000115 Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs NOT_TRANSLATED en nl HP:0005186 rdfs:label Synovial hypertrophy Synoviale hypertrofie CANDIDATE en nl HP:0005262 rdfs:label Abnormality of the synovia Afwijking van de synovia CANDIDATE +en nl HP:0005289 rdfs:label Abnormality of the nasolabial region Afwijking van de nasolabiale regio CANDIDATE en nl HP:0005347 IAO:0000115 Tracheal cartilaginous sleeve (TCS) is a rare congenital airway malformation in which distinct tracheal rings are replaced by a continuous cartilaginous segment. Vertically fused C- or O-shaped cartilaginous rings can extend from the subglottis to the carina or bronchus with little to no pars membranacea posteriorly.nComment:Tracheal cartilaginous sleeve has been associated with various craniosynostosis syndromes Tracheal cartilaginous sleeve (TCS) is a rare congenital airway malformation in which distinct tracheal rings are replaced by a continuous cartilaginous segment. Vertically fused C- or O-shaped cartilaginous rings can extend from the subglottis to the carina or bronchus with little to no pars membranacea posteriorly.nComment:Tracheal cartilaginous sleeve has been associated with various craniosynostosis syndromes NOT_TRANSLATED en nl HP:0005356 IAO:0000115 A reduced level of the complement component Factor I in circulation A reduced level of the complement component Factor I in circulation NOT_TRANSLATED en nl HP:0005356 rdfs:label Decreased serum complement factor I Verminderd serum complement factor I CANDIDATE @@ -189,6 +209,8 @@ en nl HP:0006254 IAO:0000115 An increased concentration of alpha-fetoprotein An en nl HP:0006254 rdfs:label Elevated alpha-fetoprotein Verhoogd alfafoetoproteïne CANDIDATE en nl HP:0006344 rdfs:label Abnormality of primary molar morphology Afwijking van primaire molaire morfologie CANDIDATE en nl HP:0006380 IAO:0000115 A bent (flexed) knee joint that cannot be straightened actively or passively A bent (flexed) knee joint that cannot be straightened actively or passively NOT_TRANSLATED +en nl HP:0006417 rdfs:label Broad femoral metaphyses Brede metafysen van femur CANDIDATE +en nl HP:0006431 rdfs:label Proximal femoral metaphyseal abnormality Proximale femorale metafysaire afwijking CANDIDATE en nl HP:0006477 rdfs:label Abnormality of the alveolar ridges Afwijking van de alveolaire ruggen CANDIDATE en nl HP:0006482 rdfs:label Abnormality of dental morphology Afwijking van tandheelkundige morfologie CANDIDATE en nl HP:0006499 rdfs:label Abnormality of femoral epiphysis Afwijking van femorale epifyse CANDIDATE @@ -206,9 +228,16 @@ en nl HP:0006977 rdfs:label Grammar-specific speech disorder Grammatica-specifie en nl HP:0006979 IAO:0000115 Any abnormal alteration of an individual's circadian rhythm that affects the timing of sleeping and being awake Any abnormal alteration of an individual's circadian rhythm that affects the timing of sleeping and being awake NOT_TRANSLATED en nl HP:0007081 rdfs:label Late-onset muscular dystrophy Late-onset musculaire dystrofie CANDIDATE en nl HP:0007227 rdfs:label Macrogyria Macrogyrie CANDIDATE +en nl HP:0007270 IAO:0000115 An atypical absence seizure is a type of generalised non-motor (absence) seizure characterised by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity An atypical absence seizure is a type of generalised non-motor (absence) seizure characterised by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity NOT_TRANSLATED +en nl HP:0007413 IAO:0000115 Naevus flammeus localised in the skin of the forehead Naevus flammeus localised in the skin of the forehead NOT_TRANSLATED en nl HP:0007544 IAO:0000115 Piebaldism is characterized by stable and persistent, well-circumscribed depigmented patches present at birth affecting the skin of the face, trunk, and extremities in a symmetrical distribution Piebaldism is characterized by stable and persistent, well-circumscribed depigmented patches present at birth affecting the skin of the face, trunk, and extremities in a symmetrical distribution NOT_TRANSLATED en nl HP:0007544 rdfs:label Piebaldism Piebaldisme CANDIDATE en nl HP:0007576 rdfs:label Palmar neurofibromas Palmaire neurofibromen CANDIDATE +en nl HP:0007616 IAO:0000115 Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns NOT_TRANSLATED +en nl HP:0007634 IAO:0000115 An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates NOT_TRANSLATED +en nl HP:0007773 IAO:0000115 Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment NOT_TRANSLATED +en nl HP:0007894 IAO:0000115 Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid) Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid) NOT_TRANSLATED +en nl HP:0007968 IAO:0000115 Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract NOT_TRANSLATED en nl HP:0008075 rdfs:label Progressive pes cavus Progressieve pes cavus CANDIDATE en nl HP:0008112 rdfs:label Plantar flexion contractures Plantaire flexiecontracturen CANDIDATE en nl HP:0008160 IAO:0000115 An increase in the level of 3-hydroxydicarboxylic acid in the urine An increase in the level of 3-hydroxydicarboxylic acid in the urine NOT_TRANSLATED @@ -218,9 +247,14 @@ en nl HP:0008344 IAO:0000115 An increased concentration of a branched chain amin en nl HP:0008344 rdfs:label Elevated plasma branched chain amino acids Verhoogde plasma vertakte keten aminozuren CANDIDATE en nl HP:0008372 rdfs:label Abnormality of vitamin A metabolism Afwijking van vitamine A metabolisme CANDIDATE en nl HP:0008376 rdfs:label Nasal, dysarthic speech Nasale, dysartrische spraak CANDIDATE +en nl HP:0008419 rdfs:label Intervertebral disc degeneration Degeneratie van de tussenwervelschijf CANDIDATE en nl HP:0008480 IAO:0000115 The presence of arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column The presence of arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column NOT_TRANSLATED +en nl HP:0008498 rdfs:label No permanent dentition Geen permanente dentitie CANDIDATE +en nl HP:0008501 rdfs:label Median cleft lip and palate Mediaan gespleten lip en gehemelte CANDIDATE en nl HP:0008572 rdfs:label External ear malformation Externe oor malformatie CANDIDATE en nl HP:0008609 rdfs:label Morphological abnormality of the middle ear Morfologische afwijking van het middenoor CANDIDATE +en nl HP:0008635 IAO:0000115 Abnormal enlargement of the urinary bladder Abnormal enlargement of the urinary bladder NOT_TRANSLATED +en nl HP:0008635 rdfs:label Hypertrophy of the urinary bladder Hypertrofie van de blaas CANDIDATE en nl HP:0008636 rdfs:label Lobular glomerulopathy Lobulaire glomerulopathie CANDIDATE en nl HP:0008765 IAO:0000115 The false perception of sound The false perception of sound NOT_TRANSLATED en nl HP:0008765 rdfs:label Auditory hallucinations Auditieve hallucinaties CANDIDATE @@ -232,17 +266,24 @@ en nl HP:0008830 rdfs:label Hypoplastic pubic rami Hypoplastisch ramus ossis pub en nl HP:0009380 IAO:0000115 Aplasia of one or more fingers Aplasia of one or more fingers NOT_TRANSLATED en nl HP:0009380 rdfs:label Aplasia of the fingers Aplasie van de vingers CANDIDATE en nl HP:0009591 IAO:0000115 Abnormality of the vestibulocochlear nerve, the eighth cranial nerve, which is involved in transmitting sound and equilibrium information from the inner ear to the brain Abnormality of the vestibulocochlear nerve, the eighth cranial nerve, which is involved in transmitting sound and equilibrium information from the inner ear to the brain NOT_TRANSLATED +en nl HP:0009595 rdfs:label Occasional neurofibromas Occasionele neurofibromen CANDIDATE en nl HP:0009600 IAO:0000115 Chronic loss of joint motion in the thumb due to structural changes in non-bony tissue. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected Chronic loss of joint motion in the thumb due to structural changes in non-bony tissue. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected NOT_TRANSLATED en nl HP:0009600 rdfs:label Flexion contracture of thumb Flexiecontractuur van de duim CANDIDATE en nl HP:0009624 rdfs:label Contractures of the carpometacarpal joint of the thumb Contracturen van het carpometacarpale gewricht van de duim CANDIDATE en nl HP:0009625 rdfs:label Contractures of the metacarpophalangeal joint of the thumb Contracturen van het metacarpofalangeale gewricht van de duim CANDIDATE en nl HP:0009626 rdfs:label Contractures of the interphalangeal joint of the thumb Contracturen van het interfalangeale gewricht van de duim CANDIDATE +en nl HP:0009727 IAO:0000115 Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina NOT_TRANSLATED en nl HP:0009728 IAO:0000115 A benign or malignant neoplasm (tumour) originating in striated muscle, either skeletal muscle or cardiac muscle A benign or malignant neoplasm (tumour) originating in striated muscle, either skeletal muscle or cardiac muscle NOT_TRANSLATED en nl HP:0009735 IAO:0000115 Neurofibromas originating in the spine Neurofibromas originating in the spine NOT_TRANSLATED en nl HP:0009735 rdfs:label Spinal neurofibromas Spinale neurofibromen CANDIDATE en nl HP:0009804 IAO:0000115 The absence of one or more teeth from the normal series by a failurento develop The absence of one or more teeth from the normal series by a failurento develop NOT_TRANSLATED +en nl HP:0009922 IAO:0000115 Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth NOT_TRANSLATED +en nl HP:0009922 rdfs:label Vascular remnant arising from the disc Vascular remnant arising from the disc NOT_TRANSLATED en nl HP:0010160 rdfs:label Abnormality of the epiphyses of the toes Afwijking van de epifysen van de tenen CANDIDATE en nl HP:0010161 rdfs:label Abnormality of the phalanges of the toes Afwijking van de falangen van de tenen CANDIDATE +en nl HP:0010223 IAO:0000115 The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present NOT_TRANSLATED +en nl HP:0010225 IAO:0000115 The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present NOT_TRANSLATED +en nl HP:0010227 IAO:0000115 The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present NOT_TRANSLATED en nl HP:0010289 IAO:0000115 A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth NOT_TRANSLATED en nl HP:0010289 rdfs:label Cleft of alveolar ridge of maxilla Cleft of alveolar ridge of maxilla NOT_TRANSLATED en nl HP:0010300 IAO:0000115 An abnormally low-pitched voice An abnormally low-pitched voice NOT_TRANSLATED @@ -260,13 +301,18 @@ en nl HP:0010535 IAO:0000115 An intermittent cessation of airflow at the mouth a en nl HP:0010536 IAO:0000115 Sleep apnea resulting from a transient abolition of the central drive to the ventilatory muscles Sleep apnea resulting from a transient abolition of the central drive to the ventilatory muscles NOT_TRANSLATED en nl HP:0010569 IAO:0000115 Elevated 7-dehydrocholesterol levels Elevated 7-dehydrocholesterol levels NOT_TRANSLATED en nl HP:0010569 rdfs:label Elevated 7-dehydrocholesterol Verhoogd 7-dehydrocholesterol CANDIDATE +en nl HP:0010587 rdfs:label Triangular epiphyses Driehoekige epifysen CANDIDATE en nl HP:0010593 rdfs:label Abnormality of fibular epiphyses Afwijking van epifysen van de fibula CANDIDATE +en nl HP:0010603 IAO:0000115 A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour NOT_TRANSLATED en nl HP:0010609 IAO:0000115 Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumours that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumours that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region NOT_TRANSLATED en nl HP:0010630 rdfs:label Abnormality of metatarsal epiphysis Afwijking van metatarsale epifyse CANDIDATE +en nl HP:0010640 rdfs:label Abnormality of the nasal cavity Afwijking van de neusholte CANDIDATE en nl HP:0010663 rdfs:label Abnormality of thalamus morphology Afwijking van de thalamus morfologie CANDIDATE en nl HP:0010674 rdfs:label Abnormality of the curvature of the vertebral column Afwijking van de kromming van de wervelkolom CANDIDATE +en nl HP:0010733 IAO:0000115 Naevus flammeus localised in the skin of the eyelid Naevus flammeus localised in the skin of the eyelid NOT_TRANSLATED en nl HP:0010762 IAO:0000115 A chordoma is a tumors that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis A chordoma is a tumors that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis NOT_TRANSLATED en nl HP:0010790 rdfs:label Hyoplasia of the Leydig cells Hyoplasia van de Leydig cellen CANDIDATE +en nl HP:0010818 IAO:0000115 A generalized tonic seizure is a type of generalized motor seizure characterised by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities A generalized tonic seizure is a type of generalized motor seizure characterised by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities NOT_TRANSLATED en nl HP:0010824 IAO:0000115 Any structural abormality of the fifth cranial nerve Een afwijking van de vijfde hersenzenuw CANDIDATE en nl HP:0010827 rdfs:label Abnormality of the seventh cranial nerve Afwijking van de zevende hersenzenuw CANDIDATE en nl HP:0010865 IAO:0000115 An enduring pattern of uncooperative, defiant, and hostile behavior toward authority figures that does not involve major antisocial violations, is not accounted for by the child's developmental stage, and results in significant functional impairment. A certain level of oppositional behavior is common in children and adolescents An enduring pattern of uncooperative, defiant, and hostile behavior toward authority figures that does not involve major antisocial violations, is not accounted for by the child's developmental stage, and results in significant functional impairment. A certain level of oppositional behavior is common in children and adolescents NOT_TRANSLATED @@ -277,14 +323,30 @@ en nl HP:0010982 IAO:0000115 A type of multifactorial inheritance governed by th en nl HP:0011021 rdfs:label Abnormality of circulating enzyme level Afwijking van circulerend enzym niveau CANDIDATE en nl HP:0011071 rdfs:label Abnormality of permanent molar morphology Afwijking van permanente molaire morfologie CANDIDATE en nl HP:0011111 rdfs:label Abnormality of immune serum protein physiology Afwijking van immuun serum eiwit fysiologie CANDIDATE +en nl HP:0011112 rdfs:label Abnormality of serum cytokine level Afwijking in serum cytokine niveau CANDIDATE +en nl HP:0011115 rdfs:label Abnormality of chemokine secretion Afwijking van chemokine secretie CANDIDATE +en nl HP:0011116 IAO:0000115 An abnormality in the production or cellular release of interferons (a class of cytokines) An abnormality in the production or cellular release of interferons (a class of cytokines) NOT_TRANSLATED +en nl HP:0011116 rdfs:label Abnormality of interferon secretion Afwijking van interferon secretie CANDIDATE +en nl HP:0011117 IAO:0000115 An abnormality in the production or cellular release of interleukins (a class of cytokines) An abnormality in the production or cellular release of interleukins (a class of cytokines) NOT_TRANSLATED +en nl HP:0011117 rdfs:label Abnormality of interleukin secretion Afwijking van interleukine secretie CANDIDATE en nl HP:0011121 rdfs:label Abnormality of skin morphology Afwijking van huid morfologie CANDIDATE en nl HP:0011138 rdfs:label Abnormality of skin adnexa morphology Afwijking van huidadnexen morfologie CANDIDATE +en nl HP:0011146 IAO:0000115 A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event NOT_TRANSLATED +en nl HP:0011147 IAO:0000115 A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event NOT_TRANSLATED +en nl HP:0011149 IAO:0000115 An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterised by forced upward jerking of the eyelids during an absence seizure An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterised by forced upward jerking of the eyelids during an absence seizure NOT_TRANSLATED +en nl HP:0011150 IAO:0000115 Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterised by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017 Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterised by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017 NOT_TRANSLATED +en nl HP:0011159 IAO:0000115 A type of focal autonomic seizure characterised by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature A type of focal autonomic seizure characterised by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature NOT_TRANSLATED +en nl HP:0011165 IAO:0000115 A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation NOT_TRANSLATED +en nl HP:0011169 IAO:0000115 Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups NOT_TRANSLATED +en nl HP:0011175 IAO:0000115 A type of focal motor seizure characterised by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation A type of focal motor seizure characterised by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation NOT_TRANSLATED en nl HP:0011278 rdfs:label Intrapulmonary sequestration Intrapulmonale sequestratie CANDIDATE en nl HP:0011340 IAO:0000115 A subtle unilateral cleft of the upper lip, which may appear as a small indentation A subtle unilateral cleft of the upper lip, which may appear as a small indentation NOT_TRANSLATED +en nl HP:0011359 IAO:0000115 Hair that lacks the lustre (shine or gleam) of normal hair Hair that lacks the lustre (shine or gleam) of normal hair NOT_TRANSLATED en nl HP:0011376 rdfs:label Morphological abnormality of the vestibule of the inner ear Morfologische afwijking van het vestibulum van het binnenoor CANDIDATE en nl HP:0011380 rdfs:label Morphological abnormality of the semicircular canal Morfologische afwijkingen van het semicirculaire kanaal CANDIDATE en nl HP:0011390 rdfs:label Morphological abnormality of the inner ear Morfologische afwijkingen van het binnenoor CANDIDATE en nl HP:0011391 rdfs:label Morphological abnormality of the nerves of the inner ear Morfologische afwijking van de zenuwen van het binnenoor CANDIDATE +en nl HP:0011412 IAO:0000115 Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately NOT_TRANSLATED en nl HP:0011432 rdfs:label High maternal circulating alpha-fetoprotein concentration Hoog maternaal serum alfafoetoproteïne CANDIDATE en nl HP:0011446 rdfs:label Abnormality of higher mental function Afwijking van hogere mentale functie CANDIDATE en nl HP:0011472 rdfs:label Abnormality of small intestinal villus morphology Afwijking van dunne darm villi morfologie CANDIDATE @@ -299,20 +361,24 @@ en nl HP:0011752 IAO:0000115 The presence of a neoplasm (tumour) in the neurohyp en nl HP:0011766 rdfs:label Abnormality of the parathyroid morphology Afwijking van de bijschildklier morfologie CANDIDATE en nl HP:0011814 IAO:0000115 An increased level of hypoxanthine in the urine An increased level of hypoxanthine in the urine NOT_TRANSLATED en nl HP:0011814 rdfs:label Increased urinary hypoxanthine Verhoogd urine hypoxanthine CANDIDATE +en nl HP:0011891 IAO:0000115 Significant maternal haemorrhage/blood loss following deilvery of a child Significant maternal haemorrhage/blood loss following deilvery of a child NOT_TRANSLATED en nl HP:0011892 IAO:0000115 A reduced concentration of vitamin K A reduced concentration of vitamin K NOT_TRANSLATED en nl HP:0011892 rdfs:label Low levels of vitamin K Vitamine K-deficiëntie CANDIDATE en nl HP:0011942 IAO:0000115 Increased concentration of SO3(2-), i.e., sulfite, in the urine Increased concentration of SO3(2-), i.e., sulfite, in the urine NOT_TRANSLATED en nl HP:0011942 rdfs:label Increased urinary sulfite Verhoogd urine sulfiet CANDIDATE +en nl HP:0011956 IAO:0000115 A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine NOT_TRANSLATED en nl HP:0011976 IAO:0000115 An increased concentration of catecholamine in the urine An increased concentration of catecholamine in the urine NOT_TRANSLATED en nl HP:0011976 rdfs:label Elevated urinary catecholamines Verhoogde urine catecholamines CANDIDATE en nl HP:0011979 IAO:0000115 An increased concentration of dopamine in the urine An increased concentration of dopamine in the urine NOT_TRANSLATED en nl HP:0011979 rdfs:label Elevated urinary dopamine Verhoogde urine dopamine CANDIDATE en nl HP:0011992 rdfs:label Abnormality of neutrophil morphology Afwijking van de neutrofiel morfologie CANDIDATE en nl HP:0011999 IAO:0000115 A persecutory delusion of supposed hostility of others A persecutory delusion of supposed hostility of others NOT_TRANSLATED +en nl HP:0012060 IAO:0000115 A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed NOT_TRANSLATED en nl HP:0012071 IAO:0000115 Any deviation from the normal concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine Any deviation from the normal concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine NOT_TRANSLATED en nl HP:0012071 rdfs:label Abnormal circulating acetylcarnitine concentration Afwijking van het acetyl-l-carnitine metabolisme CANDIDATE en nl HP:0012075 IAO:0000115 An abnormality of mental functioning affecting the personality and behavioural tendencies of an individual and characterized by a rigid and unhealthy pattern of thinking and behavior. The definition of a personal disorder implies that the abnormality is not the result of damage or insult to the brain or from another psychiatric disorder An abnormality of mental functioning affecting the personality and behavioural tendencies of an individual and characterized by a rigid and unhealthy pattern of thinking and behavior. The definition of a personal disorder implies that the abnormality is not the result of damage or insult to the brain or from another psychiatric disorder NOT_TRANSLATED en nl HP:0012076 IAO:0000115 A personality disorder characterized by impulsive behavior and unpredictable and capricious mood. Affected individuals show a liability to outbursts of emotion and an incapacity to control the behavioural explosions A personality disorder characterized by impulsive behavior and unpredictable and capricious mood. Affected individuals show a liability to outbursts of emotion and an incapacity to control the behavioural explosions NOT_TRANSLATED +en nl HP:0012128 IAO:0000115 Death of cells in the basal ganglia Death of cells in the basal ganglia NOT_TRANSLATED en nl HP:0012154 IAO:0000115 Inability to experience pleasure activities usually found enjoyable Inability to experience pleasure activities usually found enjoyable NOT_TRANSLATED en nl HP:0012171 IAO:0000115 Habitual clasping and squeezing of the hands Habitual clasping and squeezing of the hands NOT_TRANSLATED en nl HP:0012172 IAO:0000115 Habitual repetitive movement of the body Habitual repetitive movement of the body NOT_TRANSLATED @@ -328,8 +394,12 @@ en nl HP:0012400 rdfs:label Abnormal aldolase level Afwijking van aldolase nivea en nl HP:0012434 rdfs:label Delayed social development Vertraagde sociale ontwikkeling CANDIDATE en nl HP:0012443 rdfs:label Abnormality of brain morphology Afwijkende hersenen morfologie CANDIDATE en nl HP:0012452 IAO:0000115 A feeling of uneasiness and restlessness in the legs after going to bed (sometimes causing insomnia) A feeling of uneasiness and restlessness in the legs after going to bed (sometimes causing insomnia) NOT_TRANSLATED +en nl HP:0012490 IAO:0000115 Inflammation of adipose tissue Inflammation of adipose tissue NOT_TRANSLATED en nl HP:0012503 rdfs:label Abnormality of the pituitary gland Afwijking van de hypofyse CANDIDATE +en nl HP:0012517 IAO:0000115 An abnormally decreased amount of catalase level An abnormally decreased amount of catalase level NOT_TRANSLATED +en nl HP:0012517 rdfs:label Reduced catalase level Verminderde katalase activiteit CANDIDATE en nl HP:0012519 IAO:0000115 Underdeveloped posterior communicating artery Underdeveloped posterior communicating artery NOT_TRANSLATED +en nl HP:0012526 IAO:0000115 A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears NOT_TRANSLATED en nl HP:0012544 IAO:0000115 An increased concentration of fructose 1,6-bisphosphate aldolase in the serum An increased concentration of fructose 1,6-bisphosphate aldolase in the serum NOT_TRANSLATED en nl HP:0012544 rdfs:label Elevated aldolase level Verhoogd aldolase niveau CANDIDATE en nl HP:0012545 IAO:0000115 An decreased concentration of fructose 1,6-bisphosphate aldolase in the serum An decreased concentration of fructose 1,6-bisphosphate aldolase in the serum NOT_TRANSLATED @@ -338,16 +408,22 @@ en nl HP:0012671 IAO:0000115 Poverty of behavior and speech output, lack of init en nl HP:0012718 rdfs:label Morphological abnormality of the gastrointestinal tract Morfologische afwijking van het gastro-instestinale stelsel CANDIDATE en nl HP:0012760 IAO:0000115 A reduced ability to participate in the back and forth flow of social interaction, which is normally characterized by an influence of the behavior of one person on the behavior of another person who is in conversation with the first A reduced ability to participate in the back and forth flow of social interaction, which is normally characterized by an influence of the behavior of one person on the behavior of another person who is in conversation with the first NOT_TRANSLATED en nl HP:0012760 rdfs:label Impaired social reciprocity Verminderde sociale reciprociteit CANDIDATE +en nl HP:0012796 IAO:0000115 An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells NOT_TRANSLATED en nl HP:0012844 IAO:0000115 A benign tumour originating from the outer root sheath of the hair follicle A benign tumour originating from the outer root sheath of the hair follicle NOT_TRANSLATED en nl HP:0012845 IAO:0000115 Presence of a unitary trichilemmoma, a benign tumour originating from the outer root sheath of the hair follicle Presence of a unitary trichilemmoma, a benign tumour originating from the outer root sheath of the hair follicle NOT_TRANSLATED en nl HP:0012846 IAO:0000115 Presence of multiple trichilemmomata, a benign tumour originating from the outer root sheath of the hair follicle Presence of multiple trichilemmomata, a benign tumour originating from the outer root sheath of the hair follicle NOT_TRANSLATED +en nl HP:0020042 IAO:0000115 An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye NOT_TRANSLATED +en nl HP:0020063 rdfs:label Increased hemoglobin concentration Increased hemoglobin concentration NOT_TRANSLATED en nl HP:0020075 IAO:0000115 The presence of leuucine crystals in the urine The presence of leuucine crystals in the urine NOT_TRANSLATED en nl HP:0020090 IAO:0000115 Infection with live attenuated polio vaccine following vaccination. This is an extreemely rare event that may indicate immunocompromise Infection with live attenuated polio vaccine following vaccination. This is an extreemely rare event that may indicate immunocompromise NOT_TRANSLATED +en nl HP:0020102 IAO:0000115 An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnoea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnoea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing NOT_TRANSLATED en nl HP:0020127 IAO:0000115 A lump detected in the region that surrounds a joiny. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction A lump detected in the region that surrounds a joiny. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction NOT_TRANSLATED en nl HP:0020150 IAO:0000115 An increased amount of uromodulin (also known as Tamm Horsfall protein) in the urine An increased amount of uromodulin (also known as Tamm Horsfall protein) in the urine NOT_TRANSLATED en nl HP:0020150 rdfs:label Elevated urinary uromodulin Elevated urinary uromodulin NOT_TRANSLATED en nl HP:0020152 rdfs:label Distal joint laxity Distal joint laxity NOT_TRANSLATED en nl HP:0020169 IAO:0000115 An anomlous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy An anomlous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy NOT_TRANSLATED +en nl HP:0020175 IAO:0000115 A decreased amount of cholinesterase in the blood circulation A decreased amount of cholinesterase in the blood circulation NOT_TRANSLATED +en nl HP:0020175 rdfs:label Reduced cholinesterase level Reduced cholinesterase level NOT_TRANSLATED en nl HP:0020179 rdfs:label Abnormal haptoglobin level Abnormal haptoglobin level NOT_TRANSLATED en nl HP:0020182 rdfs:label Abnormal A-type atrial natriuretic peptide level Abnormal A-type atrial natriuretic peptide level NOT_TRANSLATED en nl HP:0020183 rdfs:label Increased circulating A-type natriuretic peptide level Increased circulating A-type natriuretic peptide level NOT_TRANSLATED @@ -356,6 +432,10 @@ en nl HP:0020188 IAO:0000115 Pachygyria with cortical thickness between 5 and 10 en nl HP:0020189 IAO:0000115 Pachygyria with cortical thickness above 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria Pachygyria with cortical thickness above 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria NOT_TRANSLATED en nl HP:0020191 IAO:0000115 Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes NOT_TRANSLATED en nl HP:0020192 IAO:0000115 Pachygyria with a mildly thickend cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age Pachygyria with a mildly thickend cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age NOT_TRANSLATED +en nl HP:0020201 IAO:0000115 Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs NOT_TRANSLATED +en nl HP:0020202 IAO:0000115 Any structural anomaly of the Z disc, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached Any structural anomaly of the Z disc, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached NOT_TRANSLATED +en nl HP:0020202 rdfs:label Abnormal Z disc morphology Abnormal Z disc morphology NOT_TRANSLATED +en nl HP:0020203 IAO:0000115 Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disc may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disc may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change NOT_TRANSLATED en nl HP:0020215 IAO:0000115 Seizures induced by thinking and decision-making.ncomment: Seizures induced by thinking and decision-making.ncomment: NOT_TRANSLATED en nl HP:0020222 IAO:0000115 A decreased concentration of homocystine in the blood A decreased concentration of homocystine in the blood NOT_TRANSLATED en nl HP:0025028 rdfs:label Abnormality of enteric nervous system morphology Afwijking van enterische zenuwstelsel morfologie CANDIDATE @@ -363,6 +443,7 @@ en nl HP:0025029 rdfs:label Abnormality of enteric neuron morphology Afwijking v en nl HP:0025033 rdfs:label Abnormality of digestive system morphology Afwijking van de digestieve morfologie CANDIDATE en nl HP:0025057 rdfs:label Abnormality of olfactory lobe morphology Afwijking van bulbus olfactorius morfologie CANDIDATE en nl HP:0025072 IAO:0000115 Increased amplitude of the U wave, defined as an amplitude grerater than 1-2mm or 25 percent of the height of the T wave Increased amplitude of the U wave, defined as an amplitude grerater than 1-2mm or 25 percent of the height of the T wave NOT_TRANSLATED +en nl HP:0025105 IAO:0000115 A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anaemic spots A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anaemic spots NOT_TRANSLATED en nl HP:0025112 rdfs:label Sound sensitivity Geluidsgevoeligheid CANDIDATE en nl HP:0025113 IAO:0000115 An adverse response (dislike) to sound no matter what volume the sound is, characterized by a strong negative reaction to soft sounds that can sometimes be further triggered by seeing the source of the offending sound An adverse response (dislike) to sound no matter what volume the sound is, characterized by a strong negative reaction to soft sounds that can sometimes be further triggered by seeing the source of the offending sound NOT_TRANSLATED en nl HP:0025160 IAO:0000115 A temper tantrum is an emotional outburst usually triggered by a sense of frustration and manifested as whining and crying, screaming, kicking, hitting, and breath holding. Temper tantrums are normal in toddlers and young children and usually happen between the ages of one to three years. Temper tantrums may be considered abnormal if they occur at an unusually high frequency, are of unusual severity, or occur at an old age than usual A temper tantrum is an emotional outburst usually triggered by a sense of frustration and manifested as whining and crying, screaming, kicking, hitting, and breath holding. Temper tantrums are normal in toddlers and young children and usually happen between the ages of one to three years. Temper tantrums may be considered abnormal if they occur at an unusually high frequency, are of unusual severity, or occur at an old age than usual NOT_TRANSLATED @@ -371,6 +452,8 @@ en nl HP:0025162 IAO:0000115 Temper tantrums whose severity is more severe than en nl HP:0025163 rdfs:label Abnormality of optic chiasm morphology Afwijking van chiasma opticum morfologie CANDIDATE en nl HP:0025171 IAO:0000115 A tumor of the central nervous system that has components of both neurocytic and glial areas, whereby usually the glial component of the tumour predominates. Rossette-forming glioneuronal tumors (RGNT) have biphasic cytoarchitecture with two elements; neurocytic rosettes resembling Homer-Wright rosettes, and astrocytic component resembling a pilocytic astrocytoma. RGNTs are low-grade tumors that lack histopathological signs of malignancy A tumor of the central nervous system that has components of both neurocytic and glial areas, whereby usually the glial component of the tumour predominates. Rossette-forming glioneuronal tumors (RGNT) have biphasic cytoarchitecture with two elements; neurocytic rosettes resembling Homer-Wright rosettes, and astrocytic component resembling a pilocytic astrocytoma. RGNTs are low-grade tumors that lack histopathological signs of malignancy NOT_TRANSLATED en nl HP:0025179 IAO:0000115 On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within whichnmargins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within whichnmargins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured NOT_TRANSLATED +en nl HP:0025186 IAO:0000115 Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing NOT_TRANSLATED +en nl HP:0025190 IAO:0000115 A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterised by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterised by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure NOT_TRANSLATED en nl HP:0025233 IAO:0000115 An inability to move the body at sleep onset or upon awakening from sleep lasting seconds to a few minutes An inability to move the body at sleep onset or upon awakening from sleep lasting seconds to a few minutes NOT_TRANSLATED en nl HP:0025234 IAO:0000115 An undesirable physical event or experience that occurs during entry into sleep, during sleep, or during arousal from sleep An undesirable physical event or experience that occurs during entry into sleep, during sleep, or during arousal from sleep NOT_TRANSLATED en nl HP:0025235 IAO:0000115 A parasomnia that occurs in non-rapid eye movement (NREM) sleep. This refers to a disorder of arousal that occurs during slow-wave sleep (ie, NREM stage 3 sleep) A parasomnia that occurs in non-rapid eye movement (NREM) sleep. This refers to a disorder of arousal that occurs during slow-wave sleep (ie, NREM stage 3 sleep) NOT_TRANSLATED @@ -384,6 +467,9 @@ en nl HP:0025269 IAO:0000115 A sudden episode of intense fear in a situation in en nl HP:0025319 rdfs:label Rubeosis iridis Rubeosis iridis CANDIDATE en nl HP:0025361 rdfs:label Abnormality of medullary pyramid morphology Afwijking van de medullaire piramide morfologie CANDIDATE en nl HP:0025372 IAO:0000115 Particularly loud snoring, snoring at high volume Particularly loud snoring, snoring at high volume NOT_TRANSLATED +en nl HP:0025389 IAO:0000115 High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities NOT_TRANSLATED +en nl HP:0025390 IAO:0000115 On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh NOT_TRANSLATED +en nl HP:0025392 IAO:0000115 A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter NOT_TRANSLATED en nl HP:0025428 rdfs:label Bronchospasm Bronchospasme CANDIDATE en nl HP:0025434 rdfs:label Reduced hemolytic complement activity Verminderde hemolytische complement activiteit CANDIDATE en nl HP:0025437 rdfs:label Macrocephalic sperm head Macrocephalic sperm head NOT_TRANSLATED @@ -392,11 +478,19 @@ en nl HP:0025483 rdfs:label Abnormal circulating thyroglobulin level Afwijkend c en nl HP:0025484 rdfs:label Increased circulating thyroglobulin level Toegenomen circulerend thyroglobuline niveau CANDIDATE en nl HP:0025485 IAO:0000115 Vaginal adenosis is defined by the presence of metaplastic cervical or endometrial epithelium within the vaginal wall, thought to be derived from persistent Müllerian (synonymous with paramesonephric) epithelium islets in postembryonic life Vaginal adenosis is defined by the presence of metaplastic cervical or endometrial epithelium within the vaginal wall, thought to be derived from persistent Müllerian (synonymous with paramesonephric) epithelium islets in postembryonic life NOT_TRANSLATED en nl HP:0025487 rdfs:label Abnormality of bladder morphology Afwijking van de morfologie van de blaas CANDIDATE +en nl HP:0025531 IAO:0000115 The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body NOT_TRANSLATED en nl HP:0025550 IAO:0000115 An increase above the normal concentration of ribitol in the blood An increase above the normal concentration of ribitol in the blood NOT_TRANSLATED +en nl HP:0025559 IAO:0000115 A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown NOT_TRANSLATED +en nl HP:0025567 IAO:0000115 An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the centre of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the centre of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months NOT_TRANSLATED +en nl HP:0025571 IAO:0000115 A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree NOT_TRANSLATED en nl HP:0025624 IAO:0000115 An abnormally decreased proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-ngative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative An abnormally decreased proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-ngative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative NOT_TRANSLATED en nl HP:0025641 IAO:0000115 An abnormally increased concentration of glycolate in the blood circulation An abnormally increased concentration of glycolate in the blood circulation NOT_TRANSLATED en nl HP:0025654 rdfs:label Placenta acreta Placenta acreta NOT_TRANSLATED en nl HP:0025662 IAO:0000115 An anomlous structural finding of the fetal skeleton. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other terms from the skeletal hierarchy can also be used to describe fetal phenotypes An anomlous structural finding of the fetal skeleton. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other terms from the skeletal hierarchy can also be used to describe fetal phenotypes NOT_TRANSLATED +en nl HP:0025679 IAO:0000115 Inflammation of an intervertebral disc or disk space Inflammation of an intervertebral disc or disk space NOT_TRANSLATED +en nl HP:0025702 IAO:0000115 A type of Schizencephaly in which there is a trans-mantle column of abnormal grey matter but no evidence of a CSF-containing cleft on MR imaging A type of Schizencephaly in which there is a trans-mantle column of abnormal grey matter but no evidence of a CSF-containing cleft on MR imaging NOT_TRANSLATED +en nl HP:0025703 IAO:0000115 A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal grey matter that are opposed to each other A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal grey matter that are opposed to each other NOT_TRANSLATED +en nl HP:0025704 IAO:0000115 A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal grey matter A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal grey matter NOT_TRANSLATED en nl HP:0030008 IAO:0000115 Congenital absence of the cervix Congenital absence of the cervix NOT_TRANSLATED en nl HP:0030018 IAO:0000115 Dminished sexual desire in female Dminished sexual desire in female NOT_TRANSLATED en nl HP:0030050 IAO:0000115 An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis NOT_TRANSLATED @@ -410,15 +504,25 @@ en nl HP:0030222 IAO:0000115 Difficulty in recognizing objects by visual input i en nl HP:0030223 IAO:0000115 Perseveration can be defined as the contextually inappropriate and unintentional repetition of a response or behavioral unit. In other words, the observed repetitiveness does not meet the demands of the situation, is not the product of deliberation, and may even unfold despite counterintention. Perseveration can therefore be differentiated from goal-directed and intentional forms of repetition, such as linguistic redundancies designed to enhance communicative or poetic impact Perseveration can be defined as the contextually inappropriate and unintentional repetition of a response or behavioral unit. In other words, the observed repetitiveness does not meet the demands of the situation, is not the product of deliberation, and may even unfold despite counterintention. Perseveration can therefore be differentiated from goal-directed and intentional forms of repetition, such as linguistic redundancies designed to enhance communicative or poetic impact NOT_TRANSLATED en nl HP:0030223 rdfs:label Perseveration Perseveratie CANDIDATE en nl HP:0030270 rdfs:label Elevated red cell adenosine deaminase level Elevated red cell adenosine deaminase level NOT_TRANSLATED +en nl HP:0030272 rdfs:label Abnormal erythrocyte enzyme level Afwijjkende erytrocyt enzym activiteit CANDIDATE +en nl HP:0030299 rdfs:label Distal femoral metaphyseal abnormality Distale femorale metafysaire afwijking CANDIDATE +en nl HP:0030320 IAO:0000115 An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space NOT_TRANSLATED +en nl HP:0030354 rdfs:label Abnormal circulating interferon concentration Afwijkend serum interferon niveau CANDIDATE en nl HP:0030389 IAO:0000115 Any deivation from the normal concentration in the blood circulation of a thromboxane. Thromboxanes are derived from prostaglandin precursors in platelets, and stimulate aggregation of platelets and constriction of blood vessels Any deivation from the normal concentration in the blood circulation of a thromboxane. Thromboxanes are derived from prostaglandin precursors in platelets, and stimulate aggregation of platelets and constriction of blood vessels NOT_TRANSLATED en nl HP:0030407 IAO:0000115 A type of pineal parenchymal cell neoplasm that is a mature well-differentiated tumour (WHO grade I) A type of pineal parenchymal cell neoplasm that is a mature well-differentiated tumour (WHO grade I) NOT_TRANSLATED en nl HP:0030408 IAO:0000115 Pineoblastoma is a rare primitive neuroectodermal tumour (PNET) arising in the pineal gland. Pineoblastomas are classified as a WHO grade IV tumour and comprise one-fourth to one-half of pineal parenchymal tumours. Pineoblastoma is a highly cellular tumor originating in the pineal gland and containing small, poorly differentiated cells Pineoblastoma is a rare primitive neuroectodermal tumour (PNET) arising in the pineal gland. Pineoblastomas are classified as a WHO grade IV tumour and comprise one-fourth to one-half of pineal parenchymal tumours. Pineoblastoma is a highly cellular tumor originating in the pineal gland and containing small, poorly differentiated cells NOT_TRANSLATED +en nl HP:0030497 IAO:0000115 Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels NOT_TRANSLATED en nl HP:0030508 rdfs:label Retinal cavernous hemangioma Retinaal caverneus hemangioom CANDIDATE en nl HP:0030515 IAO:0000115 Moderate reduction of the ability to see defined as visual acuity less than 6/18 (20/60 in US notation; 0.5 in decimal notation) but at least 6/60 (20/200 in US notation; 0.1 in decimal notation) Moderate reduction of the ability to see defined as visual acuity less than 6/18 (20/60 in US notation; 0.5 in decimal notation) but at least 6/60 (20/200 in US notation; 0.1 in decimal notation) NOT_TRANSLATED +en nl HP:0030637 IAO:0000115 Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia NOT_TRANSLATED +en nl HP:0030664 IAO:0000115 Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus NOT_TRANSLATED +en nl HP:0030680 IAO:0000115 Any structural anomaly of the heart and great vessels Any structural anomaly of the heart and great vessels NOT_TRANSLATED en nl HP:0030680 rdfs:label Abnormality of cardiovascular system morphology Abnormality of cardiovascular system morphology NOT_TRANSLATED +en nl HP:0030715 IAO:0000115 A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis NOT_TRANSLATED en nl HP:0030743 IAO:0000115 Persistance of a posterior remnant of the hyaloid artery located at the optic disc Persistance of a posterior remnant of the hyaloid artery located at the optic disc NOT_TRANSLATED en nl HP:0030744 IAO:0000115 A type of persistance of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract A type of persistance of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract NOT_TRANSLATED en nl HP:0030765 IAO:0000115 Episodes of intense fear, screaming and flailing although affected individuals are still asleep Episodes of intense fear, screaming and flailing although affected individuals are still asleep NOT_TRANSLATED +en nl HP:0030782 rdfs:label Abnormal circulating interleukin concentration Abnormal circulating interleukin concentration NOT_TRANSLATED en nl HP:0030783 IAO:0000115 An increased concentration of interleukin-6 in the blood circulation An increased concentration of interleukin-6 in the blood circulation NOT_TRANSLATED en nl HP:0030858 IAO:0000115 A recurrent pattern of behavior that is characeterized by the failure to resist an impulse, drive, or temptation to perform an act that is harmful to the person or to others. The repetitive engagement in these behaviors ultimately interferes with functioning in other domains A recurrent pattern of behavior that is characeterized by the failure to resist an impulse, drive, or temptation to perform an act that is harmful to the person or to others. The repetitive engagement in these behaviors ultimately interferes with functioning in other domains NOT_TRANSLATED en nl HP:0030935 rdfs:label Abnormality of intestinal smooth muscle morphology Abnormality of intestinal smooth muscle morphology NOT_TRANSLATED @@ -434,9 +538,12 @@ en nl HP:0031040 rdfs:label Late spermatogenesis maturation arrest Late spermato en nl HP:0031042 IAO:0000115 Inflammed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry Inflammed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry NOT_TRANSLATED en nl HP:0031085 IAO:0000115 A reduced concentration of prealbumin in the blood. Prealbumin, also known as transthyretin, has a half-life in plasma of about 2 days, much shorter than that of albumin. Prealbumin is therefore more sensitive to changes in protein-energy status than albumin, and its concentration closely reflects recent dietary intake rather than overall nutritional status A reduced concentration of prealbumin in the blood. Prealbumin, also known as transthyretin, has a half-life in plasma of about 2 days, much shorter than that of albumin. Prealbumin is therefore more sensitive to changes in protein-energy status than albumin, and its concentration closely reflects recent dietary intake rather than overall nutritional status NOT_TRANSLATED en nl HP:0031085 rdfs:label Decreased prealbumin level Verlaagd prealbumine niveau CANDIDATE +en nl HP:0031100 IAO:0000115 A reduced concentration of inhibin B in the blood A reduced concentration of inhibin B in the blood NOT_TRANSLATED +en nl HP:0031100 rdfs:label Decreased inhibin B level Verlaagd inhibine B niveau CANDIDATE en nl HP:0031102 rdfs:label Increased antimullerian hormone level Toegenomen Anti-Müller-Hormoon niveau CANDIDATE en nl HP:0031103 rdfs:label Decreased antimullerian hormone level Afgenomen Anti-Müller-Hormoon niveau CANDIDATE en nl HP:0031138 rdfs:label Abnormal B-type natriuretic peptide level Afwijkend B-type natriuretisch peptide niveau CANDIDATE +en nl HP:0031203 IAO:0000115 A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses NOT_TRANSLATED en nl HP:0031213 rdfs:label Elevated circulating 17-hydroxyprogesterone Verhoogd circulerend 17-hydroxyprogesteron CANDIDATE en nl HP:0031339 rdfs:label Abnormal cadiomyocyte dystrophin staining Abnormal cadiomyocyte dystrophin staining NOT_TRANSLATED en nl HP:0031354 IAO:0000115 Difficulty initiating sleep, that is, increased sleep onset latency Difficulty initiating sleep, that is, increased sleep onset latency NOT_TRANSLATED @@ -466,7 +573,10 @@ en nl HP:0031545 IAO:0000115 Reduced level of T cell receptor excision circle (T en nl HP:0031588 IAO:0000115 A conspicuously unhappy disposition characterized by negative assumptions, self-defeating talk, fear of failure, and negative ruminations about past events A conspicuously unhappy disposition characterized by negative assumptions, self-defeating talk, fear of failure, and negative ruminations about past events NOT_TRANSLATED en nl HP:0031589 IAO:0000115 Frequent thinking about or preoccupation with killing oneself Frequent thinking about or preoccupation with killing oneself NOT_TRANSLATED en nl HP:0031602 IAO:0000115 An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary nbeating An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary nbeating NOT_TRANSLATED +en nl HP:0031606 IAO:0000115 Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels NOT_TRANSLATED +en nl HP:0031671 IAO:0000115 Typical atrial flutter is an organised atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative Typical atrial flutter is an organised atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative NOT_TRANSLATED en nl HP:0031799 IAO:0000115 Reduced criculating level of apolipoprotein AI, which is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease Reduced criculating level of apolipoprotein AI, which is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease NOT_TRANSLATED +en nl HP:0031805 IAO:0000115 A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal haemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal haemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina NOT_TRANSLATED en nl HP:0031814 IAO:0000115 Repetition of one's own words or phrases Repetition of one's own words or phrases NOT_TRANSLATED en nl HP:0031844 IAO:0000115 A sense of intense joy or happiness that is beyond what would be expected under the given circumstances A sense of intense joy or happiness that is beyond what would be expected under the given circumstances NOT_TRANSLATED en nl HP:0031849 IAO:0000115 A reversal of sleeping habits with a tendency to sleep during the day and to be awake at night A reversal of sleeping habits with a tendency to sleep during the day and to be awake at night NOT_TRANSLATED @@ -479,20 +589,36 @@ en nl HP:0031877 IAO:0000115 An abnormally increased concentration of hepcidin i en nl HP:0031877 rdfs:label Elevated hepcidin level Elevated hepcidin level NOT_TRANSLATED en nl HP:0031906 rdfs:label Decreased total hemolytic complement activity Decreased total hemolytic complement activity NOT_TRANSLATED en nl HP:0031908 IAO:0000115 Abnormally small sized handwriting defined formally as an impairment of a fine motor skill manifesting mainly as a progressive or stable reduction in amplitude during a writing task Abnormally small sized handwriting defined formally as an impairment of a fine motor skill manifesting mainly as a progressive or stable reduction in amplitude during a writing task NOT_TRANSLATED +en nl HP:0031931 IAO:0000115 Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behaviour and its occurrence may be favoured by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behaviour and its occurrence may be favoured by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation NOT_TRANSLATED en nl HP:0031937 IAO:0000115 Extreme rapidity of speech Extreme rapidity of speech NOT_TRANSLATED en nl HP:0031956 IAO:0000115 An abnormally high concentration in the circulation of aspartate aminotransferase (AST) An abnormally high concentration in the circulation of aspartate aminotransferase (AST) NOT_TRANSLATED +en nl HP:0031973 IAO:0000115 An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc NOT_TRANSLATED +en nl HP:0031974 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.6 (The normal cup-to-disc ratio is 0.3) Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.6 (The normal cup-to-disc ratio is 0.3) NOT_TRANSLATED +en nl HP:0031975 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.7 (The normal cup-to-disc ratio is 0.3) Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.7 (The normal cup-to-disc ratio is 0.3) NOT_TRANSLATED +en nl HP:0031976 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3) Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3) NOT_TRANSLATED +en nl HP:0031977 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.9 (The normal cup-to-disc ratio is 0.3) Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.9 (The normal cup-to-disc ratio is 0.3) NOT_TRANSLATED +en nl HP:0031978 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 1.0 (The normal cup-to-disc ratio is 0.3) Ratio of the height of the cup of the optic nerve head to the height of the disc is 1.0 (The normal cup-to-disc ratio is 0.3) NOT_TRANSLATED en nl HP:0031986 IAO:0000115 Irregular, small-amplitude myoclonic movements of the hands and/or fingers on keeping outstretched posture (jerky postural tremor). Polyminimyoclonus is stimulus-sensitive and accentuated during voluntary movements. A cortical origin can be demonstrated by back-averaging techniques, and somatosensory evoked potentials (SSEPs) are sometimes giant Irregular, small-amplitude myoclonic movements of the hands and/or fingers on keeping outstretched posture (jerky postural tremor). Polyminimyoclonus is stimulus-sensitive and accentuated during voluntary movements. A cortical origin can be demonstrated by back-averaging techniques, and somatosensory evoked potentials (SSEPs) are sometimes giant NOT_TRANSLATED en nl HP:0032025 IAO:0000115 A reduced concentration of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs A reduced concentration of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs NOT_TRANSLATED en nl HP:0032025 rdfs:label Reduced serum alpha-1-antitrypsin Reduced serum alpha-1-antitrypsin NOT_TRANSLATED +en nl HP:0032027 IAO:0000115 Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size NOT_TRANSLATED +en nl HP:0032028 IAO:0000115 Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size NOT_TRANSLATED +en nl HP:0032030 IAO:0000115 Laxity of the tendon stabilising the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed Laxity of the tendon stabilising the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed NOT_TRANSLATED +en nl HP:0032031 IAO:0000115 Laxity of the tendon stabilising the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally Laxity of the tendon stabilising the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally NOT_TRANSLATED +en nl HP:0032033 IAO:0000115 Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilising structures (e.g. lower lid retractors) or tarsal atrophy are often present Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilising structures (e.g. lower lid retractors) or tarsal atrophy are often present NOT_TRANSLATED en nl HP:0032037 IAO:0000115 Mild reduction of the ability to see defined as visual acuity less than 6/12 (20/40 in US notation; 0.5 in decimal notation) but at least 6/18 (20/63 in US notation; 0.32 in decimal notation) Mild reduction of the ability to see defined as visual acuity less than 6/12 (20/40 in US notation; 0.5 in decimal notation) but at least 6/18 (20/63 in US notation; 0.32 in decimal notation) NOT_TRANSLATED en nl HP:0032044 IAO:0000115 A reduction in the ability to maintain sustained attention characterized by reduced alertness A reduction in the ability to maintain sustained attention characterized by reduced alertness NOT_TRANSLATED +en nl HP:0032055 IAO:0000115 A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organisation (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis) A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organisation (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis) NOT_TRANSLATED en nl HP:0032119 rdfs:label Narrow angle glaucoma Narrow angle glaucoma NOT_TRANSLATED +en nl HP:0032170 IAO:0000115 An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterised by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterised by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella NOT_TRANSLATED +en nl HP:0032202 IAO:0000115 Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognised: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognised: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC NOT_TRANSLATED en nl HP:0032223 IAO:0000115 Any of the various types of human blood whose antigen characteristics determine compatibility in transfusion. While the ABO and Rhesus sytems are the most well known, there are in total about 300 different blood type antigens distributed across 34 different blood type systems Any of the various types of human blood whose antigen characteristics determine compatibility in transfusion. While the ABO and Rhesus sytems are the most well known, there are in total about 300 different blood type antigens distributed across 34 different blood type systems NOT_TRANSLATED en nl HP:0032227 IAO:0000115 A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elswehere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elswehere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola NOT_TRANSLATED en nl HP:0032237 IAO:0000115 An abnormally increased number of myelocytes in the peripheral blood circulation. Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and seconday granules, and a nucleus:cytoplasm ratio of 2:1 An abnormally increased number of myelocytes in the peripheral blood circulation. Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and seconday granules, and a nucleus:cytoplasm ratio of 2:1 NOT_TRANSLATED en nl HP:0032238 IAO:0000115 An abnormally increased number of metamyelocytes in the peripheral blood circulation. Metamyelocytes are immature neutrophils with a size of 10-18 micrometers, an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm with seconday granules, and a nucleus:cytoplasm ratio of 1.5:1 An abnormally increased number of metamyelocytes in the peripheral blood circulation. Metamyelocytes are immature neutrophils with a size of 10-18 micrometers, an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm with seconday granules, and a nucleus:cytoplasm ratio of 1.5:1 NOT_TRANSLATED en nl HP:0032239 IAO:0000115 An abnormally increased number of band cells in the peripheral blood circulation. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small seconday granules, and a nucleus:cytoplasm ratio of 1:2 An abnormally increased number of band cells in the peripheral blood circulation. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small seconday granules, and a nucleus:cytoplasm ratio of 1:2 NOT_TRANSLATED en nl HP:0032248 IAO:0000115 Persistence of virus in the blood circulation longer than would be normal in an immunocompentent host Persistence of virus in the blood circulation longer than would be normal in an immunocompentent host NOT_TRANSLATED +en nl HP:0032272 rdfs:label Elevated urinary N-acetylaspartic acid level Elevated urinary N-acetylaspartic acid level NOT_TRANSLATED en nl HP:0032273 IAO:0000115 An abnormally increased concentration of N-Acetylaspartic acid in the blood circulation An abnormally increased concentration of N-Acetylaspartic acid in the blood circulation NOT_TRANSLATED en nl HP:0032278 IAO:0000115 An increase in the level of 2-hydroxyglutaric acid in the urine An increase in the level of 2-hydroxyglutaric acid in the urine NOT_TRANSLATED en nl HP:0032301 IAO:0000115 Warts affecting the skin in the genital area (peniile shaft, scrotum, vagina, or labia majora). Warts can be small, beginning as a pinhead-size swelling that may become larger and take on a pdenuculated appearance. Warts can spread and coalesce into large masses in the genital or anal area. Their color is variable but tends to be skin colored or darker, and they may occasionally bleed. Warts may cause itching, redness, or discomfort. An outbreak of genital warts may also cause psychological distress Warts affecting the skin in the genital area (peniile shaft, scrotum, vagina, or labia majora). Warts can be small, beginning as a pinhead-size swelling that may become larger and take on a pdenuculated appearance. Warts can spread and coalesce into large masses in the genital or anal area. Their color is variable but tends to be skin colored or darker, and they may occasionally bleed. Warts may cause itching, redness, or discomfort. An outbreak of genital warts may also cause psychological distress NOT_TRANSLATED @@ -506,6 +632,7 @@ en nl HP:0032352 IAO:0000115 Increased level of methionine in urine Increased le en nl HP:0032365 rdfs:label Exacerbated by aspirin ingestion Exacerbated by aspirin ingestion NOT_TRANSLATED en nl HP:0032378 IAO:0000115 Hypersensitivity that is observed within 1 hr of exposures. A variety of adverse reactions can occur within minutes to hours of exposure to a drug. Some can be related to the pharmacological action of the drug (WHO Adverse Reaction Terminology type A for augmented) and usually have a low mortality. Others are not readily predictable based on the structure and pharmacological action of the drug and have a relatively high mortality risk (Type B for bizarre). The most serious form of immediate onset drug hypersensitivity reaction, anaphylaxis. Other reactions including itching,dizziness/light-headedness, nausea, chest discomfort but without any objective skin features, physical signs or physiological compromise. Skin only reactions include generalized erythema, urticaria or angioedema without any sentinel features (see below) of other organ involvement Hypersensitivity that is observed within 1 hr of exposures. A variety of adverse reactions can occur within minutes to hours of exposure to a drug. Some can be related to the pharmacological action of the drug (WHO Adverse Reaction Terminology type A for augmented) and usually have a low mortality. Others are not readily predictable based on the structure and pharmacological action of the drug and have a relatively high mortality risk (Type B for bizarre). The most serious form of immediate onset drug hypersensitivity reaction, anaphylaxis. Other reactions including itching,dizziness/light-headedness, nausea, chest discomfort but without any objective skin features, physical signs or physiological compromise. Skin only reactions include generalized erythema, urticaria or angioedema without any sentinel features (see below) of other organ involvement NOT_TRANSLATED en nl HP:0032422 IAO:0000115 Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2B particle is defined as an HDL particle with a size of 9.7-12 nm Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2B particle is defined as an HDL particle with a size of 9.7-12 nm NOT_TRANSLATED +en nl HP:0032456 IAO:0000115 A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and grey matter A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and grey matter NOT_TRANSLATED en nl HP:0032476 rdfs:label Abnormal circulating vitamin B6 level Abnormal circulating vitamin B6 level NOT_TRANSLATED en nl HP:0032477 rdfs:label Elevated circulating vitamin B6 level Elevated circulating vitamin B6 level NOT_TRANSLATED en nl HP:0032501 rdfs:label Exacerbated by contraceptive medication Exacerbated by contraceptive medication NOT_TRANSLATED @@ -515,6 +642,7 @@ en nl HP:0032514 IAO:0000115 A congenital developmental anomaly characterized by en nl HP:0032514 rdfs:label Duplicated lacrimal punctum Duplicated lacrimal punctum NOT_TRANSLATED en nl HP:0032516 IAO:0000115 Infection that extends deeply into the dermins by dermatophytes, fungi that typically cause different types of superficial infection (tinea) or skin, hair, or nails Infection that extends deeply into the dermins by dermatophytes, fungi that typically cause different types of superficial infection (tinea) or skin, hair, or nails NOT_TRANSLATED en nl HP:0032525 rdfs:label Aggravated by acetylcholinesterase inhibitor Aggravated by acetylcholinesterase inhibitor NOT_TRANSLATED +en nl HP:0032530 rdfs:label Decreased succinic semialdehyde dehydrogenase level Decreased succinic semialdehyde dehydrogenase level NOT_TRANSLATED en nl HP:0032538 IAO:0000115 A groove or crease on the shins (pretibial, i.e., over the shin bone). Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm in length and lenghten as the limb grows. They appear as an elongated dimple because of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple or crease grows in proportion to the growth of the leg A groove or crease on the shins (pretibial, i.e., over the shin bone). Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm in length and lenghten as the limb grows. They appear as an elongated dimple because of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple or crease grows in proportion to the growth of the leg NOT_TRANSLATED en nl HP:0032641 IAO:0000115 Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present NOT_TRANSLATED en nl HP:0032642 IAO:0000115 An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation NOT_TRANSLATED @@ -522,15 +650,25 @@ en nl HP:0032643 IAO:0000115 Interstital aggregates of histiciocytes, occasional en nl HP:0032649 IAO:0000115 A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occurunder the metatarsal heads and thehead of the plantar-flexed talus A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occurunder the metatarsal heads and thehead of the plantar-flexed talus NOT_TRANSLATED en nl HP:0032660 IAO:0000115 A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between.ncomment: nsource: nseeAlso: Tonic-clonic status epilepticus A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between.ncomment: nsource: nseeAlso: Tonic-clonic status epilepticus NOT_TRANSLATED en nl HP:0032674 IAO:0000115 A cutaneous wound is a defined as a disruption of normal anatomic structure and function of the skin that occured owing to an injury of the skin. Wound healing is a dynamic, interactive processinvolving soluble mediators, blood cells, extracellularmatrix, and parenchymal cells. Wound healing has three phases: inflammation, tissue formation, and tissue remodeling, that overlap in time A cutaneous wound is a defined as a disruption of normal anatomic structure and function of the skin that occured owing to an injury of the skin. Wound healing is a dynamic, interactive processinvolving soluble mediators, blood cells, extracellularmatrix, and parenchymal cells. Wound healing has three phases: inflammation, tissue formation, and tissue remodeling, that overlap in time NOT_TRANSLATED +en nl HP:0032679 IAO:0000115 A type of focal-onset seizure characterized by non-motor signs or symptoms (or behaviour arrest) as its initial semiological manifestation A type of focal-onset seizure characterized by non-motor signs or symptoms (or behaviour arrest) as its initial semiological manifestation NOT_TRANSLATED +en nl HP:0032736 IAO:0000115 Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behaviour Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behaviour NOT_TRANSLATED +en nl HP:0032755 IAO:0000115 A focal autonomic seizure characterised by impaired awareness at some point within the seizure A focal autonomic seizure characterised by impaired awareness at some point within the seizure NOT_TRANSLATED en nl HP:0032764 IAO:0000115 A type of focal autonomic seizure characterised by penile erection as the intial semiological feature A type of focal autonomic seizure characterised by penile erection as the intial semiological feature NOT_TRANSLATED +en nl HP:0032789 IAO:0000115 A focal behavior arrest seizure characterised by retained awareness throughout the seizure A focal behavior arrest seizure characterised by retained awareness throughout the seizure NOT_TRANSLATED +en nl HP:0032790 IAO:0000115 A focal behavior arrest seizure characterised by impaired awareness at some point during the seizure A focal behavior arrest seizure characterised by impaired awareness at some point during the seizure NOT_TRANSLATED +en nl HP:0032792 IAO:0000115 A tonic seizure is a type of motor seizure characterised by unilateral or bilateral limb stiffening or elevation, often with neck stiffening A tonic seizure is a type of motor seizure characterised by unilateral or bilateral limb stiffening or elevation, often with neck stiffening NOT_TRANSLATED +en nl HP:0032794 IAO:0000115 A myoclonic seizure is a type of motor seizure characterised by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus A myoclonic seizure is a type of motor seizure characterised by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus NOT_TRANSLATED +en nl HP:0032795 IAO:0000115 A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterised by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterised by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus NOT_TRANSLATED en nl HP:0032816 IAO:0000115 Neonatal multifocal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at multiple sites Neonatal multifocal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at multiple sites NOT_TRANSLATED en nl HP:0032829 IAO:0000115 Neonatal electro-clinical motor seizure with automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, and in association with other features Neonatal electro-clinical motor seizure with automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, and in association with other features NOT_TRANSLATED en nl HP:0032832 IAO:0000115 Neonatal bilateral asymmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body asymmetrically Neonatal bilateral asymmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body asymmetrically NOT_TRANSLATED en nl HP:0032834 IAO:0000115 Neonatal seizure with bilateral asymmetric automatisms is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at one side of the body Neonatal seizure with bilateral asymmetric automatisms is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at one side of the body NOT_TRANSLATED en nl HP:0032835 IAO:0000115 Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at both sides of the body symmetrically Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at both sides of the body symmetrically NOT_TRANSLATED en nl HP:0032836 IAO:0000115 Neonatal bilateral symmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body symmetrically Neonatal bilateral symmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body symmetrically NOT_TRANSLATED +en nl HP:0032851 IAO:0000115 A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis NOT_TRANSLATED en nl HP:0032858 IAO:0000115 A focal motor seizure with negative myoclonus characterized by impairement of awareness at some point during the seizure A focal motor seizure with negative myoclonus characterized by impairement of awareness at some point during the seizure NOT_TRANSLATED en nl HP:0032879 IAO:0000115 A focal cognitive seizure with dissociation at the onset of the seizure impairment of awareness at at some point during the seizure A focal cognitive seizure with dissociation at the onset of the seizure impairment of awareness at at some point during the seizure NOT_TRANSLATED +en nl HP:0032928 IAO:0000115 Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large calibre myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large calibre myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases NOT_TRANSLATED en nl HP:0032936 IAO:0000115 Unintentional reexperiencing a traumatic event comprising symptoms are usually sensory impressions and emotional responses from the trauma that appear to lack a time perspective and a context Unintentional reexperiencing a traumatic event comprising symptoms are usually sensory impressions and emotional responses from the trauma that appear to lack a time perspective and a context NOT_TRANSLATED en nl HP:0032937 IAO:0000115 After suffering psychological trauma, people can repeatedly experience sensory-perceptual impressions of the event, which intrude involuntarily into consciousness. These intrusive memories typically take the form of visual images (e.g., pictures in the mind's eye), but can also include sounds, smells, tastes and bodily sensations, and come with a range of negative emotions associated with the hotspots in the trauma memory After suffering psychological trauma, people can repeatedly experience sensory-perceptual impressions of the event, which intrude involuntarily into consciousness. These intrusive memories typically take the form of visual images (e.g., pictures in the mind's eye), but can also include sounds, smells, tastes and bodily sensations, and come with a range of negative emotions associated with the hotspots in the trauma memory NOT_TRANSLATED en nl HP:0032938 IAO:0000115 Recurrent distressing dreams in which the content and/or affect of the dream are related to the traumatic event or events Recurrent distressing dreams in which the content and/or affect of the dream are related to the traumatic event or events NOT_TRANSLATED @@ -561,9 +699,11 @@ en nl HP:0033060 IAO:0000115 A reduced level of the complement component C5 in t en nl HP:0033060 rdfs:label Decreased serum complement C5 Decreased serum complement C5 NOT_TRANSLATED en nl HP:0033063 IAO:0000115 A tendency to sleep less hours than usual while feeling well rested A tendency to sleep less hours than usual while feeling well rested NOT_TRANSLATED en nl HP:0033063 rdfs:label Shortened sleep cycle Shortened sleep cycle NOT_TRANSLATED +en nl HP:0033068 IAO:0000115 A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber colour. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber colour. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance NOT_TRANSLATED en nl HP:0033080 IAO:0000115 Thyrotrophin-releasing hormone (TRH) is a hypothalamic tripeptide synthesised by, stored within and released from the hypothalamus. It stimulates the synthesis and release of thyroid-stimulating hormone (TSH) from the anterior pituitary gland. Following administration of exogenous TRH, a transient increase in serum TSH is expected. This term refers to an abnormal reponse in the TRH stimulation test Thyrotrophin-releasing hormone (TRH) is a hypothalamic tripeptide synthesised by, stored within and released from the hypothalamus. It stimulates the synthesis and release of thyroid-stimulating hormone (TSH) from the anterior pituitary gland. Following administration of exogenous TRH, a transient increase in serum TSH is expected. This term refers to an abnormal reponse in the TRH stimulation test NOT_TRANSLATED en nl HP:0033092 IAO:0000115 An increase in the level of succinate in the urine An increase in the level of succinate in the urine NOT_TRANSLATED en nl HP:0033114 IAO:0000115 A type of gallop rhytm in which both the third and the fourth sounds are present A type of gallop rhytm in which both the third and the fourth sounds are present NOT_TRANSLATED +en nl HP:0033126 IAO:0000115 Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red coloured skin Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red coloured skin NOT_TRANSLATED en nl HP:0033136 IAO:0000115 An inflammed lymph node that is filled with pus An inflammed lymph node that is filled with pus NOT_TRANSLATED en nl HP:0033154 IAO:0000115 An increased concentration of lysyl-pyridinoline (deoxypyridinoline) cross-links in the bloood circulation An increased concentration of lysyl-pyridinoline (deoxypyridinoline) cross-links in the bloood circulation NOT_TRANSLATED en nl HP:0033159 IAO:0000115 Decreased level of inosine in urine. Inosine is a purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond Decreased level of inosine in urine. Inosine is a purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond NOT_TRANSLATED @@ -581,7 +721,9 @@ en nl HP:0033302 IAO:0000115 An abnormally increased concentration of 4-Hydroxyp en nl HP:0033324 IAO:0000115 Increased concentration of homovanillic acid in the blood circulation Increased concentration of homovanillic acid in the blood circulation NOT_TRANSLATED en nl HP:0033332 IAO:0000115 An increased concentration of serum amyloid A in the blood circulation An increased concentration of serum amyloid A in the blood circulation NOT_TRANSLATED en nl HP:0033332 rdfs:label Elevated circulating amyloid A Elevated circulating amyloid A NOT_TRANSLATED +en nl HP:0033349 IAO:0000115 A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognisable by the primary clinician, carer or patient A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognisable by the primary clinician, carer or patient NOT_TRANSLATED en nl HP:0033363 IAO:0000115 Hyaline membranes are homogeneous eosinophilic material composed of cellular debris, plasma proteins, and surfactantnplastered against alveolar ducts and alveolar walls. The hyaline membranes are deposited along the walls of the alveoli, where gas exchange typically occurs, thereby making gas exchange difficult Hyaline membranes are homogeneous eosinophilic material composed of cellular debris, plasma proteins, and surfactantnplastered against alveolar ducts and alveolar walls. The hyaline membranes are deposited along the walls of the alveoli, where gas exchange typically occurs, thereby making gas exchange difficult NOT_TRANSLATED +en nl HP:0033398 IAO:0000115 Deposits of hyalinized collagen fibres in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs) Deposits of hyalinized collagen fibres in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs) NOT_TRANSLATED en nl HP:0033436 IAO:0000115 An abnormally increased concentration of 3-methyl-2-oxovaleric acid in the blood circulation An abnormally increased concentration of 3-methyl-2-oxovaleric acid in the blood circulation NOT_TRANSLATED en nl HP:0033437 IAO:0000115 Abnormal increase of the concentration of 4-methyl-2-oxopentanoic acid in the blood circulation Abnormal increase of the concentration of 4-methyl-2-oxopentanoic acid in the blood circulation NOT_TRANSLATED en nl HP:0033439 IAO:0000115 Increased concentration of decenoylcarnitine in the blood circulation Increased concentration of decenoylcarnitine in the blood circulation NOT_TRANSLATED @@ -608,11 +750,18 @@ en nl HP:0033519 rdfs:label Methamphetamine addiction Methamphetamine addiction en nl HP:0033520 IAO:0000115 Paradoxical embolism describes the passage of a venous or right-sided cardiac thrombus into the arterial or systemic circulation.nComment: Paradoxical embolism occurs most commonly through an intracardiac defect at the atrial level, but can also be due to another type of right-to-left-shunt, as for example in pulmonary arteriovenous malformations. Paradoxical embolism may lead to serious complications as ischemic stroke Paradoxical embolism describes the passage of a venous or right-sided cardiac thrombus into the arterial or systemic circulation.nComment: Paradoxical embolism occurs most commonly through an intracardiac defect at the atrial level, but can also be due to another type of right-to-left-shunt, as for example in pulmonary arteriovenous malformations. Paradoxical embolism may lead to serious complications as ischemic stroke NOT_TRANSLATED en nl HP:0033543 IAO:0000115 Nicotine addition can be defined as chronic compulsive nicotine seeking and continued use despite harmful consequences Nicotine addition can be defined as chronic compulsive nicotine seeking and continued use despite harmful consequences NOT_TRANSLATED en nl HP:0033543 rdfs:label Nicotine addiction Nicotine addiction NOT_TRANSLATED +en nl HP:0033552 IAO:0000115 Villitis of unknown etiology (synonymous with villitis of unknown aetiology) is a histologic diagnosis and, although it may have a variable distribution, evidence indicates that 3 parenchymal blocks will identify 62% of villitis, reaching an asymptote of 6 and 7 blocks identifying 85% of villitis. Villitis of unknown etiology by definition excludes those cases where an etiology is identified, such as viral or acute infections, and thus is preferred to the term nonspecific chronic villitis. It is usually lymphohistiocytic: although the presence of rare plasma cells does not exclude the diagnosis, thorough evaluation for an infectious etiology, such as cytomegalovirus, is required in a predominantly plasma cell villitis Villitis of unknown etiology (synonymous with villitis of unknown aetiology) is a histologic diagnosis and, although it may have a variable distribution, evidence indicates that 3 parenchymal blocks will identify 62% of villitis, reaching an asymptote of 6 and 7 blocks identifying 85% of villitis. Villitis of unknown etiology by definition excludes those cases where an etiology is identified, such as viral or acute infections, and thus is preferred to the term nonspecific chronic villitis. It is usually lymphohistiocytic: although the presence of rare plasma cells does not exclude the diagnosis, thorough evaluation for an infectious etiology, such as cytomegalovirus, is required in a predominantly plasma cell villitis NOT_TRANSLATED en nl HP:0033561 IAO:0000115 The presence of autoantibodies in the blood circulation that react against bactericidal/permeability-increasing protein (BPI). BPI is an endotoxin-binding host protein with important antibacterial effects against Gram-negative bacteria, such as Pseudomonas aeruginosa. nBPI is a 55 kDalton protein that is most abundant in the azurophilic granules of neutrophils. BPI also acts as a target antigen for antineutrophil cytoplasmic autoantibodies The presence of autoantibodies in the blood circulation that react against bactericidal/permeability-increasing protein (BPI). BPI is an endotoxin-binding host protein with important antibacterial effects against Gram-negative bacteria, such as Pseudomonas aeruginosa. nBPI is a 55 kDalton protein that is most abundant in the azurophilic granules of neutrophils. BPI also acts as a target antigen for antineutrophil cytoplasmic autoantibodies NOT_TRANSLATED +en nl HP:0033578 IAO:0000115 Pre-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg) Pre-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg) NOT_TRANSLATED +en nl HP:0033580 IAO:0000115 An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibres in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fibre action potentials. The shortest latency of the CMAP is the time from stimulus artefact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV) An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibres in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fibre action potentials. The shortest latency of the CMAP is the time from stimulus artefact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV) NOT_TRANSLATED +en nl HP:0033613 IAO:0000115 Solid, homogenous nodules characterised by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes Solid, homogenous nodules characterised by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes NOT_TRANSLATED en nl HP:0033627 IAO:0000115 Increased amount of harderoporphyrin in the urine Increased amount of harderoporphyrin in the urine NOT_TRANSLATED +en nl HP:0033635 IAO:0000115 Post-capillary pulmonary hypertension is a hemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units) Post-capillary pulmonary hypertension is a hemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units) NOT_TRANSLATED +en nl HP:0033636 IAO:0000115 Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units) Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units) NOT_TRANSLATED en nl HP:0033650 IAO:0000115 A parenchymal band is a linear opacity, usually 1-3 mm thick and up to 5 cm long that usually extends to the visceral pleuran(which is often thickened and may be retracted at the site of contact). It reflects pleuroparenchymal fibrosis and is usually associated with distortion of the lung architecture. Parenchymal bands are most frequently encountered in individuals who have been exposed to asbestos A parenchymal band is a linear opacity, usually 1-3 mm thick and up to 5 cm long that usually extends to the visceral pleuran(which is often thickened and may be retracted at the site of contact). It reflects pleuroparenchymal fibrosis and is usually associated with distortion of the lung architecture. Parenchymal bands are most frequently encountered in individuals who have been exposed to asbestos NOT_TRANSLATED en nl HP:0033664 IAO:0000115 Gangliogliomas are rare tumours of the central nervous system. The are WHO grade I and considered low grade. They are well differentiated neuroepithelial tumours consisting of both dysplastic neuronal and neoplastic glial cells Gangliogliomas are rare tumours of the central nervous system. The are WHO grade I and considered low grade. They are well differentiated neuroepithelial tumours consisting of both dysplastic neuronal and neoplastic glial cells NOT_TRANSLATED en nl HP:0033676 IAO:0000115 A behavioral or psychological symptom that typically occurs following exposure to one or more traumatic events. Posttraumatic stress disorder (PTSD) symptoms include intrusive recollections (re-experiencing the trauma in flashbacks, memories or nightmares); avoidant and numbing symptoms (including diminished emotions and avoidance of situations that are reminders of the traumatic event); and hyperarousal (including increased irritability, exaggerated startle reactions or difficulty sleeping or concentrating) A behavioral or psychological symptom that typically occurs following exposure to one or more traumatic events. Posttraumatic stress disorder (PTSD) symptoms include intrusive recollections (re-experiencing the trauma in flashbacks, memories or nightmares); avoidant and numbing symptoms (including diminished emotions and avoidance of situations that are reminders of the traumatic event); and hyperarousal (including increased irritability, exaggerated startle reactions or difficulty sleeping or concentrating) NOT_TRANSLATED +en nl HP:0033680 IAO:0000115 The most common form of astrocytoma (WHO Grade I) in childhood. These typically have MAPK signalling pathway abnormalities The most common form of astrocytoma (WHO Grade I) in childhood. These typically have MAPK signalling pathway abnormalities NOT_TRANSLATED en nl HP:0033694 IAO:0000115 The false perception of tactile sensory input that creates a hallucinatory sensation of physical contact with an imaginary object The false perception of tactile sensory input that creates a hallucinatory sensation of physical contact with an imaginary object NOT_TRANSLATED en nl HP:0033705 IAO:0000115 A feeling of sadness characterized by crying episodes that can come on suddenly and are not under usual social control A feeling of sadness characterized by crying episodes that can come on suddenly and are not under usual social control NOT_TRANSLATED en nl HP:0033706 IAO:0000115 This condition is caused by slow-growing conglomeration of dust particles and collagen deposition in individuals (mostly coal workers) heavily exposed to inorganic dust. Progressive massive fibrosis manifests as masslike lesions, usually bilateral and innthe upper lobes. Background nodular opacities reflect accompanying pneumoconiosis, with or without emphysematous destruction adjacent to the massive fibrosis. Lesions similar to progressive massive fibrosis sometimes occur in other conditions, such as sarcoidosis and talcosis This condition is caused by slow-growing conglomeration of dust particles and collagen deposition in individuals (mostly coal workers) heavily exposed to inorganic dust. Progressive massive fibrosis manifests as masslike lesions, usually bilateral and innthe upper lobes. Background nodular opacities reflect accompanying pneumoconiosis, with or without emphysematous destruction adjacent to the massive fibrosis. Lesions similar to progressive massive fibrosis sometimes occur in other conditions, such as sarcoidosis and talcosis NOT_TRANSLATED @@ -626,12 +775,14 @@ en nl HP:0034026 rdfs:label Elevated circulating sacchoropine concentration Elev en nl HP:0034041 rdfs:label Ventricular ectopy Ventricular ectopy NOT_TRANSLATED en nl HP:0034074 IAO:0000115 An abnormally elevated echogenicity of fetal long bones in a prenatal sonographic investigation. Ths finding is due to hypermineralization An abnormally elevated echogenicity of fetal long bones in a prenatal sonographic investigation. Ths finding is due to hypermineralization NOT_TRANSLATED en nl HP:0034116 rdfs:label Anti-thyrotropin receptor antibody Anti-thyrotropin receptor antibody NOT_TRANSLATED +en nl HP:0034192 IAO:0000115 Pulmonary embolism is caused by emboli, which have originated from venous thrombi, travelling to and occluding the arteries of the lung Pulmonary embolism is caused by emboli, which have originated from venous thrombi, travelling to and occluding the arteries of the lung NOT_TRANSLATED en nl HP:0034206 IAO:0000115 An anomlous structural finding of the fetal central nervous system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes An anomlous structural finding of the fetal central nervous system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes NOT_TRANSLATED en nl HP:0034207 IAO:0000115 An anomlous structural finding of the fetal gastrointestinal system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes An anomlous structural finding of the fetal gastrointestinal system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes NOT_TRANSLATED en nl HP:0034242 IAO:0000115 An anomlous structural finding of the fetal genitourinary system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes An anomlous structural finding of the fetal genitourinary system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes NOT_TRANSLATED en nl HP:0034243 IAO:0000115 An anomlous structural finding of the fetal lungs. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes An anomlous structural finding of the fetal lungs. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes NOT_TRANSLATED en nl HP:0034290 IAO:0000115 An increased concentration of tiglylglycine in the blood circulation An increased concentration of tiglylglycine in the blood circulation NOT_TRANSLATED en nl HP:0034300 IAO:0000115 Reduced enzyme of acid sphingomyelinase activity in the blood circulation Reduced enzyme of acid sphingomyelinase activity in the blood circulation NOT_TRANSLATED +en nl HP:0034302 IAO:0000115 A congenitally anomalous enlarged optic disk (surface area greater than 2.50 square millimeters). It is considered to be a normal variant without physiological defects A congenitally anomalous enlarged optic disk (surface area greater than 2.50 square millimeters). It is considered to be a normal variant without physiological defects NOT_TRANSLATED en nl HP:0034318 IAO:0000115 Reactivation is the mechanism whereby a latent virus that has infected a host cell switches to a lytic stage, undergoing productive viral replication and allowing the virus to spread. This term refers to reactivation regarded as unusual because of frequency, intensity, location, or nature of the virus, in the sense that the rreactivation would not be observed in an immunocompetent host Reactivation is the mechanism whereby a latent virus that has infected a host cell switches to a lytic stage, undergoing productive viral replication and allowing the virus to spread. This term refers to reactivation regarded as unusual because of frequency, intensity, location, or nature of the virus, in the sense that the rreactivation would not be observed in an immunocompetent host NOT_TRANSLATED en nl HP:0034321 IAO:0000115 An increased concentration of guanidinoacetic acid in the blood circulation An increased concentration of guanidinoacetic acid in the blood circulation NOT_TRANSLATED en nl HP:0034326 IAO:0000115 Ectopic endometrial tissue within the uterine myometrium Ectopic endometrial tissue within the uterine myometrium NOT_TRANSLATED @@ -640,6 +791,8 @@ en nl HP:0034337 IAO:0000115 An abormality of the hand characterized by metacarp en nl HP:0034367 IAO:0000115 Abnormally reduced activity of the enzyme beta-mannosidase, which is a lysosomal enzyme that catabolized oligosaccharides Abnormally reduced activity of the enzyme beta-mannosidase, which is a lysosomal enzyme that catabolized oligosaccharides NOT_TRANSLATED en nl HP:0034367 rdfs:label Decreased beta-mannosidase activity Decreased beta-mannosidase activity NOT_TRANSLATED en nl HP:0034379 rdfs:label Vascular granular osmiophilic material deposition Vascular granular osmiophilic material deposition NOT_TRANSLATED +en nl HP:0034388 IAO:0000115 Hilar lymphadenopathy is swelling or enlargement of lymph nodes localised in hila, wedge-shaped anatomical structures containing pulmonary vessels, major bronchi, nerves and lymph nodes. Hilar lymph nodes are not visible on chest X-ray if they are not enlarged. Hilar lymph node enlargement can be caused by benign and malignant conditions and can be symmetrical (bilateral) or asymmetrical (unilateral) Hilar lymphadenopathy is swelling or enlargement of lymph nodes localised in hila, wedge-shaped anatomical structures containing pulmonary vessels, major bronchi, nerves and lymph nodes. Hilar lymph nodes are not visible on chest X-ray if they are not enlarged. Hilar lymph node enlargement can be caused by benign and malignant conditions and can be symmetrical (bilateral) or asymmetrical (unilateral) NOT_TRANSLATED +en nl HP:0034389 IAO:0000115 Pulmonary vein varix (PVV), refers to a localised dilatation of a pulmonary vein. PVV is a rare condition and can be congenital or acquired. PVV typically occur at the confluence of the veins adjacent to the left atrium. PVVs are sometimes classified into three morphological types: saccular, tortuous and confluent Pulmonary vein varix (PVV), refers to a localised dilatation of a pulmonary vein. PVV is a rare condition and can be congenital or acquired. PVV typically occur at the confluence of the veins adjacent to the left atrium. PVVs are sometimes classified into three morphological types: saccular, tortuous and confluent NOT_TRANSLATED en nl HP:0034402 IAO:0000115 A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm NOT_TRANSLATED en nl HP:0034434 IAO:0000115 Any abnormal behavior related to communication Any abnormal behavior related to communication NOT_TRANSLATED en nl HP:0034434 rdfs:label Abnormal social communication behavior Abnormal social communication behavior NOT_TRANSLATED @@ -651,6 +804,7 @@ en nl HP:0034497 IAO:0000115 An increased amount of hexanoic acid in the urine A en nl HP:0034501 IAO:0000115 Abnormal lincrease in the width of the mediastinum, often defined as being greater than 6 to 8cm Abnormal lincrease in the width of the mediastinum, often defined as being greater than 6 to 8cm NOT_TRANSLATED en nl HP:0034510 IAO:0000115 Any deviation from the normal activity of an enzyme in muscle tissue, usually measured in a muscle biopsy specimen Any deviation from the normal activity of an enzyme in muscle tissue, usually measured in a muscle biopsy specimen NOT_TRANSLATED en nl HP:0034510 rdfs:label Abnormal muscle tissue enzyme activity Abnormal muscle tissue enzyme activity NOT_TRANSLATED +en nl HP:0040057 rdfs:label Abnormality of nasal hair Afwijking van nasale haar CANDIDATE en nl HP:0040082 IAO:0000115 A conspicuously happy disposition with frequent smiling and laughing that may be context-inappropriate or unrelated to context A conspicuously happy disposition with frequent smiling and laughing that may be context-inappropriate or unrelated to context NOT_TRANSLATED en nl HP:0040090 IAO:0000115 An abnormality of the tympanic membrane An abnormality of the tympanic membrane NOT_TRANSLATED en nl HP:0040090 rdfs:label Abnormality of the tympanic membrane Afwijking van het trommelvlies CANDIDATE @@ -660,10 +814,15 @@ en nl HP:0040108 rdfs:label Morphological abnormality of the anterior semicircul en nl HP:0040109 rdfs:label Morphological abnormality of the utricle Morfologische afwijkingen van de utriculus CANDIDATE en nl HP:0040110 rdfs:label Morphological abnormality of the saccule Morfologische afwijking van de sacculus CANDIDATE en nl HP:0040126 rdfs:label Abnormal vitamin B12 level Afwijkend vitamine B12 niveau CANDIDATE +en nl HP:0040130 rdfs:label Abnormal serum iron concentration Afwijkend serum ijzer CANDIDATE +en nl HP:0040142 IAO:0000115 Decreased level of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate Decreased level of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate NOT_TRANSLATED +en nl HP:0040142 rdfs:label Reduced 5-oxoprolinase level 5-oxoprolinase deficiëntie CANDIDATE +en nl HP:0040149 IAO:0000115 The presence of woolly hair on the scalp. The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter The presence of woolly hair on the scalp. The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter NOT_TRANSLATED en nl HP:0040208 IAO:0000115 Increased concentration of biopterin in the cerebrospinal fluid (CSF) Increased concentration of biopterin in the cerebrospinal fluid (CSF) NOT_TRANSLATED en nl HP:0040209 IAO:0000115 Decreased concentration of biopterin in the cerebrospinal fluid (CSF) Decreased concentration of biopterin in the cerebrospinal fluid (CSF) NOT_TRANSLATED en nl HP:0040268 rdfs:label Recurrent infections of the middle ear Recidiverende infecties van het middenoor CANDIDATE en nl HP:0040278 rdfs:label Prolactinoma Prolactinoom CANDIDATE +en nl HP:0040303 rdfs:label Decreased serum iron Verminderd serum ijzer CANDIDATE en nl HP:0040323 rdfs:label Erythema of the eyelids Erytheem van de oogleden CANDIDATE en nl HP:0041048 IAO:0000115 A decrease in the protein expression fo GPI-anchor proteins, such as CD55 and CD59, at the cell surface, which suggests a defect in GPI-anchor biosynthesis A decrease in the protein expression fo GPI-anchor proteins, such as CD55 and CD59, at the cell surface, which suggests a defect in GPI-anchor biosynthesis NOT_TRANSLATED en nl HP:0041063 rdfs:label Chronic decreased cirulating IgG2 Chronic decreased cirulating IgG2 NOT_TRANSLATED @@ -687,14 +846,18 @@ en nl HP:0045057 IAO:0000115 A decrease in the concentration of alpha-fetoprotei en nl HP:0045057 rdfs:label Decreased levels of alpha-fetoprotein Afgenomen niveaus van alfafoetoproteïne CANDIDATE en nl HP:0100007 IAO:0000115 A benign or malignant neoplasm (tumour) of the peripheral nervous system A benign or malignant neoplasm (tumour) of the peripheral nervous system NOT_TRANSLATED en nl HP:0100016 rdfs:label Abnormality of mesentery morphology Afwijking van mesenterium morfologie CANDIDATE +en nl HP:0100021 IAO:0000115 Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems NOT_TRANSLATED en nl HP:0100023 IAO:0000115 A type of stereotypic behavior in which the affected individual repeatedly waves the hands up and down A type of stereotypic behavior in which the affected individual repeatedly waves the hands up and down NOT_TRANSLATED en nl HP:0100024 IAO:0000115 An unusually happy aspect over time which can also may be observed during inappropriate situations that should be causing for example distress, fear or anger An unusually happy aspect over time which can also may be observed during inappropriate situations that should be causing for example distress, fear or anger NOT_TRANSLATED en nl HP:0100025 IAO:0000115 A form of hypersociability that presents as mostly inappropriate people-orientation and friendliness towards others on an inadequate level which might go as far as being dangerous considering for example young children following strangers without restriction A form of hypersociability that presents as mostly inappropriate people-orientation and friendliness towards others on an inadequate level which might go as far as being dangerous considering for example young children following strangers without restriction NOT_TRANSLATED en nl HP:0100033 IAO:0000115 Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppresable and are usually associated with awareness of an urge to perform the movement Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppresable and are usually associated with awareness of an urge to perform the movement NOT_TRANSLATED en nl HP:0100035 IAO:0000115 Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound NOT_TRANSLATED +en nl HP:0100241 IAO:0000115 Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations NOT_TRANSLATED en nl HP:0100251 IAO:0000115 The presence of mulitple lipomas located in the central nervous system The presence of mulitple lipomas located in the central nervous system NOT_TRANSLATED +en nl HP:0100274 IAO:0000115 Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal NOT_TRANSLATED en nl HP:0100291 rdfs:label Abnormality of central somatosensory evoked potentials Afwijking van centrale somatosensorische opgewekte potentialen CANDIDATE en nl HP:0100311 IAO:0000115 Bands of scar-like tisssue that hve formed within a cerebral ventricle Bands of scar-like tisssue that hve formed within a cerebral ventricle NOT_TRANSLATED +en nl HP:0100326 IAO:0000115 Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens NOT_TRANSLATED en nl HP:0100335 IAO:0000115 Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region NOT_TRANSLATED en nl HP:0100335 rdfs:label Non-midline cleft lip Non-middellijn gespleten lip CANDIDATE en nl HP:0100502 rdfs:label Vitamin B12 deficiency Vitamine B12 deficiëntie CANDIDATE @@ -715,6 +878,7 @@ en nl HP:0100514 rdfs:label Abnormality of vitamin E metabolism Afwijking van vi en nl HP:0100523 IAO:0000115 The presence of an abscess of the liver The presence of an abscess of the liver NOT_TRANSLATED en nl HP:0100530 rdfs:label Abnormal calcium-phosphate regulating hormone level Afwijking van de calcium-fosfaathuishouding CANDIDATE en nl HP:0100543 IAO:0000115 Abnormal cognition with deficits in thinking, reasoning, or remembering Abnormal cognition with deficits in thinking, reasoning, or remembering NOT_TRANSLATED +en nl HP:0100685 IAO:0000115 An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone NOT_TRANSLATED en nl HP:0100698 IAO:0000115 The presence of Neurofibromas in the subcutis The presence of Neurofibromas in the subcutis NOT_TRANSLATED en nl HP:0100698 rdfs:label Subcutaneous neurofibromas Subcutane neurofibromen CANDIDATE en nl HP:0100710 IAO:0000115 Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; difficulty establishing or following plans; a sense of urgency and self-harming behavior under emotional distress Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; difficulty establishing or following plans; a sense of urgency and self-harming behavior under emotional distress NOT_TRANSLATED @@ -724,11 +888,13 @@ en nl HP:0100738 IAO:0000115 Abnormal eating habit with excessive or insufficien en nl HP:0100742 IAO:0000115 A benign or malignant neoplasm (tumour) originating in the vascular system A benign or malignant neoplasm (tumour) originating in the vascular system NOT_TRANSLATED en nl HP:0100753 IAO:0000115 A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7% A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7% NOT_TRANSLATED en nl HP:0100754 IAO:0000115 A state of abnormally elevated or irritable mood, arousal, and or energy levels A state of abnormally elevated or irritable mood, arousal, and or energy levels NOT_TRANSLATED +en nl HP:0100832 IAO:0000115 Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent NOT_TRANSLATED en nl HP:0100851 IAO:0000115 An abnormality of emotional behaviour An abnormality of emotional behaviour NOT_TRANSLATED en nl HP:0100851 rdfs:label Abnormal emotion/affect behavior Abnormaal emotioneel/affectief gedrag CANDIDATE en nl HP:0100852 IAO:0000115 An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response NOT_TRANSLATED en nl HP:0100852 rdfs:label Abnormal fear/anxiety-related behavior Abnormaal angstig gedrag CANDIDATE en nl HP:0100889 rdfs:label Abnormality of the ductus choledochus Afwijking van de ductus choledochus CANDIDATE +en nl HP:0100962 rdfs:label Shyness Verlegenheid CANDIDATE en nl HP:0200000 rdfs:label Dysharmonic bone age Dysharmonische bot leeftijd CANDIDATE en nl HP:0410003 rdfs:label Cleft maxillary alveolus Gespleten primair palatum CANDIDATE en nl HP:0410051 IAO:0000115 An increase in the level of 3-hydroxy-3-methylglutaric acid in the urine An increase in the level of 3-hydroxy-3-methylglutaric acid in the urine NOT_TRANSLATED @@ -749,12 +915,22 @@ en nl HP:0410146 IAO:0000115 An increase in biotinidase level, an enzyme that re en nl HP:0410146 rdfs:label Increased biotinidase level Increased biotinidase level NOT_TRANSLATED en nl HP:0410153 IAO:0000115 An increase in the level of methylsuccinic acid in the urine An increase in the level of methylsuccinic acid in the urine NOT_TRANSLATED en nl HP:0410176 rdfs:label Abnormal glucose-6-phosphate dehydrogenase level Abnormal glucose-6-phosphate dehydrogenase level NOT_TRANSLATED +en nl HP:0410192 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level Abnormal uridine diphosphate glucose-4-epimerase level NOT_TRANSLATED +en nl HP:0410193 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level in plasma Abnormal uridine diphosphate glucose-4-epimerase level in plasma NOT_TRANSLATED +en nl HP:0410194 rdfs:label Increased uridine diphosphate glucose-4-epimerase level in plasma Increased uridine diphosphate glucose-4-epimerase level in plasma NOT_TRANSLATED +en nl HP:0410195 rdfs:label Decreased uridine diphosphate glucose-4-epimerase level in plasma Decreased uridine diphosphate glucose-4-epimerase level in plasma NOT_TRANSLATED +en nl HP:0410196 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells NOT_TRANSLATED +en nl HP:0410197 rdfs:label Increased uridine diphosphate glucose-4-epimerase level in red blood cells Increased uridine diphosphate glucose-4-epimerase level in red blood cells NOT_TRANSLATED +en nl HP:0410198 rdfs:label Decreased uridine diphosphate glucose-4-epimerase level in red blood cells Decreased uridine diphosphate glucose-4-epimerase level in red blood cells NOT_TRANSLATED en nl HP:0410280 IAO:0000115 Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset NOT_TRANSLATED en nl HP:0410309 IAO:0000115 A increased concentration of alpha-aminoadipic acid in the urine A increased concentration of alpha-aminoadipic acid in the urine NOT_TRANSLATED en nl HP:0410325 rdfs:label House dust mite allergy House dust mite allergy NOT_TRANSLATED en nl HP:0410350 IAO:0000115 An abnormal increase in the concentrationl of small fucosylated oligosaccharides in the urine An abnormal increase in the concentrationl of small fucosylated oligosaccharides in the urine NOT_TRANSLATED en nl HP:0500046 IAO:0000115 Inflamation of the eyelid due to overactivity of the sebaceous gland Inflamation of the eyelid due to overactivity of the sebaceous gland NOT_TRANSLATED +en nl HP:0500070 IAO:0000115 A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus NOT_TRANSLATED +en nl HP:0500086 IAO:0000115 Having a characteristic appearance of a slate gray area of pigmentation within the disc margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas Having a characteristic appearance of a slate gray area of pigmentation within the disc margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas NOT_TRANSLATED en nl HP:0500089 IAO:0000115 A benign tumour of meningothelial cells of the meninges that usually occurs in middle age. It is typically unilateral and there is an association with neurofibromatosis type 2 A benign tumour of meningothelial cells of the meninges that usually occurs in middle age. It is typically unilateral and there is an association with neurofibromatosis type 2 NOT_TRANSLATED +en nl HP:0500091 IAO:0000115 A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva manoeuvre. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to haemorrhage A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva manoeuvre. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to haemorrhage NOT_TRANSLATED en nl HP:0500092 IAO:0000115 A mesenchymal tumour that is considered to be the commonest primary orbital malignancy in children. Histologically, it may be differentiated into embryonal, alveolar, and pleomorphic types. It is usually intraconal or within the superior orbit A mesenchymal tumour that is considered to be the commonest primary orbital malignancy in children. Histologically, it may be differentiated into embryonal, alveolar, and pleomorphic types. It is usually intraconal or within the superior orbit NOT_TRANSLATED en nl HP:0500149 IAO:0000115 An increased amount of glutamate in the blood An increased amount of glutamate in the blood NOT_TRANSLATED en nl HP:0500161 IAO:0000115 An increased amount of carnosine in the blood An increased amount of carnosine in the blood NOT_TRANSLATED @@ -762,10 +938,14 @@ en nl HP:0500161 rdfs:label Increased level of carnosine in blood Increased leve en nl HP:0500162 rdfs:label Decreased level of carnosine in blood Decreased level of carnosine in blood NOT_TRANSLATED en nl HP:0500210 IAO:0000115 Abnormally increased levels of methionine in cerebrospinal fluid Abnormally increased levels of methionine in cerebrospinal fluid NOT_TRANSLATED en nl HP:0500248 IAO:0000115 Abnormally increased levels of alpha-aminobutyrate in cerebrospinal fluid Abnormally increased levels of alpha-aminobutyrate in cerebrospinal fluid NOT_TRANSLATED +en nl HP:3000004 IAO:0000115 An abnormality of a frontalis muscle belly An abnormality of a frontalis muscle belly NOT_TRANSLATED +en nl HP:3000004 rdfs:label Abnormality of frontalis muscle belly Afwijking van musculus frontalis CANDIDATE +en nl HP:4000008 IAO:0000115 Pronuclei formation is a critical process during fertilisation. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilisation. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilisation with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI Pronuclei formation is a critical process during fertilisation. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilisation. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilisation with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI NOT_TRANSLATED en nl HP:4000009 IAO:0000115 An excessive, irrational and debilitating fear to carry out a physical movement, due to a feeling of vulnerability to a painful injury or reinjury An excessive, irrational and debilitating fear to carry out a physical movement, due to a feeling of vulnerability to a painful injury or reinjury NOT_TRANSLATED en nl HP:4000020 IAO:0000115 Bullous pemphigoid (BP) is an autoimmune disease associated with subepidermal blistering due to autoantibodies directed against BP180 and BP230. BP180 is currently considered as the major pathogenic autoantigen Bullous pemphigoid (BP) is an autoimmune disease associated with subepidermal blistering due to autoantibodies directed against BP180 and BP230. BP180 is currently considered as the major pathogenic autoantigen NOT_TRANSLATED en nl HP:4000025 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against an integrin. Integrins are a family of cell adhesion moleculeswith 24 known integrin heterodimers. Integrins transduce mechanical and biochemical signals from fibrotic extracellular matrix into the cell, activate latent TGFbeta, and subsequently modulate fibroblast adhesion, migration, and growth The presence of autoantibodies (immunoglobulins) in the serum that react against an integrin. Integrins are a family of cell adhesion moleculeswith 24 known integrin heterodimers. Integrins transduce mechanical and biochemical signals from fibrotic extracellular matrix into the cell, activate latent TGFbeta, and subsequently modulate fibroblast adhesion, migration, and growth NOT_TRANSLATED en nl HP:4000034 rdfs:label Infection-ssociated lymphopenia Infection-ssociated lymphopenia NOT_TRANSLATED +en nl HP:4000056 IAO:0000115 Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterised by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighbouring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterised by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighbouring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response NOT_TRANSLATED en nl HP:4000058 IAO:0000115 A type of proteinuria characterized by increased permeability of the glomerular capillary wall to macromolecules (particularly albumin), whereby protein excretion can reach 20 g/24 h and consists mainly of albumin. nPMID: 19634399 A type of proteinuria characterized by increased permeability of the glomerular capillary wall to macromolecules (particularly albumin), whereby protein excretion can reach 20 g/24 h and consists mainly of albumin. nPMID: 19634399 NOT_TRANSLATED en nl HP:4000069 IAO:0000115 A type of abnormal interest characterized by a persistent and intense focus in parts of a toy/object. For examples, affected individuals may spin the wheels on a toy car rather than driving the toy car A type of abnormal interest characterized by a persistent and intense focus in parts of a toy/object. For examples, affected individuals may spin the wheels on a toy car rather than driving the toy car NOT_TRANSLATED en nl HP:4000070 rdfs:label Circumscribed interests Circumscribed interests NOT_TRANSLATED diff --git a/src/translations/hp-nl-not-translated.babelon.tsv b/src/translations/hp-nl-not-translated.babelon.tsv index 321508c10..d66c083cc 100644 --- a/src/translations/hp-nl-not-translated.babelon.tsv +++ b/src/translations/hp-nl-not-translated.babelon.tsv @@ -1714,7 +1714,6 @@ en nl HP:0002740 IAO:0000115 Increased susceptibility to infections with Escheri en nl HP:0002741 IAO:0000115 Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection NOT_TRANSLATED en nl HP:0002742 IAO:0000115 Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection NOT_TRANSLATED en nl HP:0002743 IAO:0000115 Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection NOT_TRANSLATED -en nl HP:0002744 IAO:0000115 Cleft lip and cleft palate affecting both sides of the face Cleft lip and cleft palate affecting both sides of the face NOT_TRANSLATED en nl HP:0002745 IAO:0000115 A thickened white patch on the oral mucosa that cannot be rubbed off A thickened white patch on the oral mucosa that cannot be rubbed off NOT_TRANSLATED en nl HP:0002748 IAO:0000115 Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets NOT_TRANSLATED en nl HP:0002749 IAO:0000115 Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets NOT_TRANSLATED @@ -4102,7 +4101,6 @@ en nl HP:0008491 IAO:0000115 Early closure (ossification) of the anterior fontan en nl HP:0008494 IAO:0000115 Partial displacement of the lens in the inferior direction Partial displacement of the lens in the inferior direction NOT_TRANSLATED en nl HP:0008494 rdfs:label Inferior lens subluxation Inferior lens subluxation NOT_TRANSLATED en nl HP:0008499 IAO:0000115 A severe form of hypermetropia with over +5.00 diopters A severe form of hypermetropia with over +5.00 diopters NOT_TRANSLATED -en nl HP:0008501 IAO:0000115 Cleft lip or palate affecting the midline region of the palate Cleft lip or palate affecting the midline region of the palate NOT_TRANSLATED en nl HP:0008504 IAO:0000115 The presence of a moderate form of sensorineural hearing impairment The presence of a moderate form of sensorineural hearing impairment NOT_TRANSLATED en nl HP:0008509 rdfs:label Aged leonine appearance Aged leonine appearance NOT_TRANSLATED en nl HP:0008511 IAO:0000115 Reduced transparency of the central posterior portion of the corneal stroma Reduced transparency of the central posterior portion of the corneal stroma NOT_TRANSLATED @@ -4705,7 +4703,6 @@ en nl HP:0009591 IAO:0000115 Abnormality of the vestibulocochlear nerve, the eig en nl HP:0009592 IAO:0000115 Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma NOT_TRANSLATED en nl HP:0009593 IAO:0000115 The presence of a peripheral schwannoma The presence of a peripheral schwannoma NOT_TRANSLATED en nl HP:0009594 IAO:0000115 A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina NOT_TRANSLATED -en nl HP:0009595 IAO:0000115 Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1 Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1 NOT_TRANSLATED en nl HP:0009596 IAO:0000115 Absence of the proximal phalanx of the 2nd finger Absence of the proximal phalanx of the 2nd finger NOT_TRANSLATED en nl HP:0009597 IAO:0000115 Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger NOT_TRANSLATED en nl HP:0009598 IAO:0000115 Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal NOT_TRANSLATED @@ -7779,7 +7776,6 @@ en nl HP:0020061 IAO:0000115 Any deviation from the normal concentration of hemo en nl HP:0020061 rdfs:label Abnormal hemoglobin concentration Abnormal hemoglobin concentration NOT_TRANSLATED en nl HP:0020062 IAO:0000115 An abnormal reduction below normal hemoglobin concentration in the circulation An abnormal reduction below normal hemoglobin concentration in the circulation NOT_TRANSLATED en nl HP:0020062 rdfs:label Decreased hemoglobin concentration Decreased hemoglobin concentration NOT_TRANSLATED -en nl HP:0020063 IAO:0000115 An abnormal elevation above normal hemoglobin concentration in the circulation An abnormal elevation above normal hemoglobin concentration in the circulation NOT_TRANSLATED en nl HP:0020063 rdfs:label Increased hemoglobin concentration Increased hemoglobin concentration NOT_TRANSLATED en nl HP:0020064 IAO:0000115 Any deviation from the normal number of eosinophils per volume in the blood circulation Any deviation from the normal number of eosinophils per volume in the blood circulation NOT_TRANSLATED en nl HP:0020064 rdfs:label Abnormal eosinophil count Abnormal eosinophil count NOT_TRANSLATED @@ -9319,7 +9315,6 @@ en nl HP:0030350 IAO:0000115 A circumscribed, solid elevation of skin with no vi en nl HP:0030351 IAO:0000115 A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter NOT_TRANSLATED en nl HP:0030352 IAO:0000115 An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation NOT_TRANSLATED en nl HP:0030353 IAO:0000115 A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation NOT_TRANSLATED -en nl HP:0030354 IAO:0000115 Abnormal levels of interferon in the blood Abnormal levels of interferon in the blood NOT_TRANSLATED en nl HP:0030355 IAO:0000115 Abnormal levels of interferon gamma measured in the blood circulation Abnormal levels of interferon gamma measured in the blood circulation NOT_TRANSLATED en nl HP:0030356 IAO:0000115 An elevation in the concentration of interferon gamma measured in the blood circulation An elevation in the concentration of interferon gamma measured in the blood circulation NOT_TRANSLATED en nl HP:0030357 IAO:0000115 Small cell lung cancer (SCLC) is a type of highly malignant lung cancer that is composed of small ovoid cells. In the past, SCLC was called oat cell carcinoma because the microscopic appearance of the cells was felt to resemble oats. SLCLC usually originates near the bronchi and in many cases may grow and metastasize quickly Small cell lung cancer (SCLC) is a type of highly malignant lung cancer that is composed of small ovoid cells. In the past, SCLC was called oat cell carcinoma because the microscopic appearance of the cells was felt to resemble oats. SLCLC usually originates near the bronchi and in many cases may grow and metastasize quickly NOT_TRANSLATED @@ -9628,7 +9623,6 @@ en nl HP:0030780 IAO:0000115 An anomaly of the protein C anticoagulant pathway, en nl HP:0030780 rdfs:label Abnormality of the protein C anticoagulant pathway Abnormality of the protein C anticoagulant pathway NOT_TRANSLATED en nl HP:0030781 IAO:0000115 A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues NOT_TRANSLATED en nl HP:0030781 rdfs:label Increased circulating free fatty acid level Increased circulating free fatty acid level NOT_TRANSLATED -en nl HP:0030782 IAO:0000115 An abnormal amount of any of the interleukins, a class of cytokines, in the circulation An abnormal amount of any of the interleukins, a class of cytokines, in the circulation NOT_TRANSLATED en nl HP:0030782 rdfs:label Abnormal circulating interleukin concentration Abnormal circulating interleukin concentration NOT_TRANSLATED en nl HP:0030783 IAO:0000115 An increased concentration of interleukin-6 in the blood circulation An increased concentration of interleukin-6 in the blood circulation NOT_TRANSLATED en nl HP:0030784 IAO:0000115 An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name NOT_TRANSLATED @@ -11624,7 +11618,6 @@ en nl HP:0032270 IAO:0000115 A tram-track sign is composed of two enhancing area en nl HP:0032270 rdfs:label Optic nerve tram-track sign Optic nerve tram-track sign NOT_TRANSLATED en nl HP:0032271 IAO:0000115 A type of tubercular infection located outside of the lung, which is the most common location of tuberculosis. There are two types of clinical manifestation of tuberculosis (TB) are pulmonary TB (PTB) and extrapulmonary TB (EPTB). The former is most common. EPTB refers to TB involving organs other than the lungs (e.g., pleura, lymph nodes, abdomen, genitourinary tract, skin, joints and bones, or meninges). A patient with both pulmonary and EPTB is classified as a case of PTB A type of tubercular infection located outside of the lung, which is the most common location of tuberculosis. There are two types of clinical manifestation of tuberculosis (TB) are pulmonary TB (PTB) and extrapulmonary TB (EPTB). The former is most common. EPTB refers to TB involving organs other than the lungs (e.g., pleura, lymph nodes, abdomen, genitourinary tract, skin, joints and bones, or meninges). A patient with both pulmonary and EPTB is classified as a case of PTB NOT_TRANSLATED en nl HP:0032271 rdfs:label Extrapulmonary tuberculosis Extrapulmonary tuberculosis NOT_TRANSLATED -en nl HP:0032272 IAO:0000115 Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry NOT_TRANSLATED en nl HP:0032272 rdfs:label Elevated urinary N-acetylaspartic acid level Elevated urinary N-acetylaspartic acid level NOT_TRANSLATED en nl HP:0032273 IAO:0000115 An abnormally increased concentration of N-Acetylaspartic acid in the blood circulation An abnormally increased concentration of N-Acetylaspartic acid in the blood circulation NOT_TRANSLATED en nl HP:0032273 rdfs:label Increased circulating N-Acetylaspartic acid concentration Increased circulating N-Acetylaspartic acid concentration NOT_TRANSLATED @@ -16482,7 +16475,7 @@ en nl HP:0034990 rdfs:label Shoulder abduction contracture NOT_TRANSLATED en nl HP:0034991 rdfs:label Shoulder external rotation contracture NOT_TRANSLATED en nl HP:0034992 rdfs:label Thumb adduction contracture NOT_TRANSLATED en nl HP:0034993 rdfs:label Hip internal rotation contracture NOT_TRANSLATED -en nl HP:0034995 rdfs:label Reduced hepatic fructose-1,6-bisphosphatase activity NOT_TRANSLATED +en nl HP:0034995 rdfs:label Reduced tissue fructose-1,6-bisphosphatase activity NOT_TRANSLATED en nl HP:0034996 rdfs:label Reduced hepatic carbamoylphosphate synthetase 1 activity NOT_TRANSLATED en nl HP:0034997 rdfs:label Reduced intraepidermal small nerve fiber density NOT_TRANSLATED en nl HP:0034998 rdfs:label Femoral artery duplication NOT_TRANSLATED @@ -17862,7 +17855,6 @@ en nl HP:0410190 IAO:0000115 A decrease in the level of glucose-6-phosphate dehy en nl HP:0410190 rdfs:label Decreased glucose-6-phosphate dehydrogenase level in leukocytes Decreased glucose-6-phosphate dehydrogenase level in leukocytes NOT_TRANSLATED en nl HP:0410191 IAO:0000115 An increase in the level of glucose-6-phosphate dehydrogenase in leukocytes An increase in the level of glucose-6-phosphate dehydrogenase in leukocytes NOT_TRANSLATED en nl HP:0410191 rdfs:label Increased glucose-6-phosphate dehydrogenase level in leukocytes Increased glucose-6-phosphate dehydrogenase level in leukocytes NOT_TRANSLATED -en nl HP:0410192 IAO:0000115 An abnormality in uridine diphosphate glucose-4-epimerase level, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose An abnormality in uridine diphosphate glucose-4-epimerase level, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose NOT_TRANSLATED en nl HP:0410192 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level Abnormal uridine diphosphate glucose-4-epimerase level NOT_TRANSLATED en nl HP:0410193 IAO:0000115 An abnormality in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose An abnormality in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose NOT_TRANSLATED en nl HP:0410193 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level in plasma Abnormal uridine diphosphate glucose-4-epimerase level in plasma NOT_TRANSLATED @@ -18402,6 +18394,14 @@ en nl HP:0430139 rdfs:label Positive CSF pathogen-specific antibody positivity en nl HP:0430140 rdfs:label Positive CSF nucleic acid pathogen test NOT_TRANSLATED en nl HP:0430141 rdfs:label Positive CSF varicella zoster antibody positivity NOT_TRANSLATED en nl HP:0430142 rdfs:label Reduced circulating interleukin 6 concentration NOT_TRANSLATED +en nl HP:0430143 rdfs:label Elevated circulating C12 acylcarnitine concentration NOT_TRANSLATED +en nl HP:0430144 rdfs:label Frontalis muscle overactivity NOT_TRANSLATED +en nl HP:0430145 rdfs:label Nasal dermoid cyst NOT_TRANSLATED +en nl HP:0430146 rdfs:label Elevated circulating complement C3 concentration NOT_TRANSLATED +en nl HP:0430147 rdfs:label Abnormal circulating inhibin B concentration NOT_TRANSLATED +en nl HP:0430148 rdfs:label Abnormal circulating lipoprotein(a) concentration NOT_TRANSLATED +en nl HP:0430150 rdfs:label Positive blood infectious agent test NOT_TRANSLATED +en nl HP:0430151 rdfs:label Positive respiratory tract infectious agent test NOT_TRANSLATED en nl HP:0500001 IAO:0000115 A perceived unpleasant smell given off by the body A perceived unpleasant smell given off by the body NOT_TRANSLATED en nl HP:0500005 IAO:0000115 Pain in and around the anus or rectum (perianal region) Pain in and around the anus or rectum (perianal region) NOT_TRANSLATED en nl HP:0500006 IAO:0000115 Inflammation of the urethra Inflammation of the urethra NOT_TRANSLATED @@ -19363,9 +19363,9 @@ en nl HP:5200013 rdfs:label Ambiguous facial expression NOT_TRANSLATED en nl HP:5200014 rdfs:label Exaggerated facial expression NOT_TRANSLATED en nl HP:5200015 rdfs:label Muted facial expression NOT_TRANSLATED en nl HP:5200016 rdfs:label Abnormal peer relationships NOT_TRANSLATED -en nl HP:5200017 rdfs:label Abnormal movements of face and head NOT_TRANSLATED -en nl HP:5200018 rdfs:label Abnormal movements of the upper extremities NOT_TRANSLATED -en nl HP:5200019 rdfs:label Abnormal movements of the whole body NOT_TRANSLATED +en nl HP:5200017 rdfs:label Steroetypic movements of face and head NOT_TRANSLATED +en nl HP:5200018 rdfs:label Steroetypic upper-extremity movements NOT_TRANSLATED +en nl HP:5200019 rdfs:label Stereotypic whole-body movements NOT_TRANSLATED en nl HP:5200020 rdfs:label Abnormal interest in others NOT_TRANSLATED en nl HP:5200021 rdfs:label Reduced social insight NOT_TRANSLATED en nl HP:5200022 rdfs:label Reduced awareness of convention NOT_TRANSLATED @@ -19377,7 +19377,7 @@ en nl HP:5200029 rdfs:label Social disinhibition NOT_TRANSLATED en nl HP:5200030 rdfs:label Diminished integration of verbal and non-verbal communicative behavior NOT_TRANSLATED en nl HP:5200035 rdfs:label Reduced cooperative imaginative play NOT_TRANSLATED en nl HP:5200036 rdfs:label Reduced responsiveness to verbal cues NOT_TRANSLATED -en nl HP:5200037 rdfs:label Lack of expressed empath NOT_TRANSLATED +en nl HP:5200037 rdfs:label Lack of expressed empathy NOT_TRANSLATED en nl HP:5200038 rdfs:label Bradylalia NOT_TRANSLATED en nl HP:5200039 rdfs:label Excessively loud speech NOT_TRANSLATED en nl HP:5200040 rdfs:label Excessively quiet voice NOT_TRANSLATED @@ -19467,7 +19467,7 @@ en nl HP:5200231 rdfs:label Hypervigilance NOT_TRANSLATED en nl HP:5200232 rdfs:label Phobia NOT_TRANSLATED en nl HP:5200233 rdfs:label Anticipatory anxiety NOT_TRANSLATED en nl HP:5200234 rdfs:label Flight of ideas NOT_TRANSLATED -en nl HP:5200235 rdfs:label Thought disorder NOT_TRANSLATED +en nl HP:5200235 rdfs:label Disorganized speech or communication NOT_TRANSLATED en nl HP:5200237 rdfs:label Pronunciation difficulties NOT_TRANSLATED en nl HP:5200238 rdfs:label Vowel expressive impediment NOT_TRANSLATED en nl HP:5200239 rdfs:label Consonant expressive impediment NOT_TRANSLATED @@ -19813,7 +19813,7 @@ en nl HP:6000227 rdfs:label Prosthetic heart valve NOT_TRANSLATED en nl HP:6000228 rdfs:label Failure to increase oxygen saturation on hyperoxia test NOT_TRANSLATED en nl HP:6000229 rdfs:label High-set nipples NOT_TRANSLATED en nl HP:6000230 rdfs:label Decreased muscle caveolin-3 level NOT_TRANSLATED -en nl HP:6000231 rdfs:label Abnormal tissue enzyme activity NOT_TRANSLATED +en nl HP:6000231 rdfs:label Abnormal tissue enzyme concentration or activity NOT_TRANSLATED en nl HP:6000232 rdfs:label Splenic necrosis NOT_TRANSLATED en nl HP:6000233 rdfs:label Carcinoid tumor of the pancreas NOT_TRANSLATED en nl HP:6000234 rdfs:label Elevated circulating dihydroxyphenylacetic acid concentration NOT_TRANSLATED @@ -20031,5 +20031,250 @@ en nl HP:6000445 rdfs:label Elevated thallium cadmiun concentration NOT_TRANSLA en nl HP:6000446 rdfs:label Abnormal circulating CC chemokine concentration NOT_TRANSLATED en nl HP:6000447 rdfs:label Decreased CSF asialotransferrin to transferrin ratio NOT_TRANSLATED en nl HP:6000448 rdfs:label Anti-desmocollin antibody positivity NOT_TRANSLATED +en nl HP:6000449 rdfs:label Occupational exposure to raw nonsynthetic textiles NOT_TRANSLATED +en nl HP:6000450 rdfs:label Rokitansky-Aschoff gallbladder sinuses NOT_TRANSLATED +en nl HP:6000451 rdfs:label Porcelain gallbladder NOT_TRANSLATED +en nl HP:6000452 rdfs:label Gallbladder adhesions NOT_TRANSLATED +en nl HP:6000453 rdfs:label Bilioduodenal fistula NOT_TRANSLATED +en nl HP:6000454 rdfs:label Pneumobilia NOT_TRANSLATED +en nl HP:6000455 rdfs:label Ectopic gallstone NOT_TRANSLATED +en nl HP:6000456 rdfs:label Sleep drunkeness NOT_TRANSLATED +en nl HP:6000457 rdfs:label Mallory bodies NOT_TRANSLATED +en nl HP:6000458 rdfs:label Sulfur-containing abscess NOT_TRANSLATED +en nl HP:6000459 rdfs:label Retracted tympanic membrane NOT_TRANSLATED +en nl HP:6000460 rdfs:label Ectopic testis NOT_TRANSLATED +en nl HP:6000461 rdfs:label Cerebral subcortical cyst NOT_TRANSLATED +en nl HP:6000462 rdfs:label Anti-ADAMTS13 antibody positivity NOT_TRANSLATED +en nl HP:6000463 rdfs:label Habitual mouth breathing NOT_TRANSLATED +en nl HP:6000464 rdfs:label Squared off shoulders NOT_TRANSLATED +en nl HP:6000465 rdfs:label Elevated urine mesaconic acid level NOT_TRANSLATED +en nl HP:6000466 rdfs:label Elevated urine 3-methyladipic acid level NOT_TRANSLATED +en nl HP:6000467 rdfs:label Elevated urine D-lactate level NOT_TRANSLATED +en nl HP:6000468 rdfs:label Elevated CSF alpha-ketoglutarate concentration NOT_TRANSLATED +en nl HP:6000469 rdfs:label Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level NOT_TRANSLATED +en nl HP:6000470 rdfs:label Fetal oral mass NOT_TRANSLATED +en nl HP:6000471 rdfs:label Dilated ejaculatory duct NOT_TRANSLATED +en nl HP:6000472 rdfs:label Decreased Wiskott-Aldrich syndrome protein concentration in hematopoietic cells NOT_TRANSLATED +en nl HP:6000473 rdfs:label Decreased FOXP3-expressing T cell count NOT_TRANSLATED +en nl HP:6000474 rdfs:label Elevated circulating complement component concentration NOT_TRANSLATED +en nl HP:6000475 rdfs:label Anti-beta fodrin antibody positivity NOT_TRANSLATED +en nl HP:6000476 rdfs:label Elevated circulating tetradecenoylcarnitine concentration NOT_TRANSLATED +en nl HP:6000477 rdfs:label Elevated urine 2-trans,4-cis-decadienoylcarnitine level NOT_TRANSLATED +en nl HP:6000478 rdfs:label Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration NOT_TRANSLATED +en nl HP:6000479 rdfs:label Elevated urine N-acetyltyrosine level NOT_TRANSLATED +en nl HP:6000480 rdfs:label Elevated urine manganese level NOT_TRANSLATED +en nl HP:6000481 rdfs:label Reduced urinary manganese level NOT_TRANSLATED +en nl HP:6000482 rdfs:label Decreased circulating catecholamine concentration NOT_TRANSLATED +en nl HP:6000483 rdfs:label Empty sella turcica NOT_TRANSLATED +en nl HP:6000484 rdfs:label Elevated brain guanidinoacetate level by MRS NOT_TRANSLATED +en nl HP:6000485 rdfs:label Elevated circulating beta chorionic gonadotropin concentration NOT_TRANSLATED +en nl HP:6000486 rdfs:label Elevated circulating CXCL10 concentration NOT_TRANSLATED +en nl HP:6000487 rdfs:label Reduced circulating interleukin 12 concentration NOT_TRANSLATED +en nl HP:6000488 rdfs:label Reduced circulating fibroblast growth factor 23 concentration NOT_TRANSLATED +en nl HP:6000489 rdfs:label Abnormal circulating fibroblast growth factor 23 concentration NOT_TRANSLATED +en nl HP:6000490 rdfs:label Impaired heel-walking ability NOT_TRANSLATED +en nl HP:6000491 rdfs:label Anti-prothrombin antibody positivity NOT_TRANSLATED +en nl HP:6000492 rdfs:label Anti-factor V antibody positivity NOT_TRANSLATED +en nl HP:6000493 rdfs:label Anti-factor VII antibody positivity NOT_TRANSLATED +en nl HP:6000494 rdfs:label Anti-factor VIII antibody positivity NOT_TRANSLATED +en nl HP:6000495 rdfs:label Anti-factor IX antibody positivity NOT_TRANSLATED +en nl HP:6000496 rdfs:label Anti-factor X antibody positivity NOT_TRANSLATED +en nl HP:6000497 rdfs:label Anti-factor XI antibody positivity NOT_TRANSLATED +en nl HP:6000498 rdfs:label Anti-factor XIII antibody positivity NOT_TRANSLATED +en nl HP:6000499 rdfs:label Anti-factor H antibody positivity NOT_TRANSLATED +en nl HP:6000500 rdfs:label Extremities cold to touch NOT_TRANSLATED +en nl HP:6000501 rdfs:label Ruffled acrosome NOT_TRANSLATED +en nl HP:6000502 rdfs:label Elevated circulating calprotectin concentration NOT_TRANSLATED +en nl HP:6000503 rdfs:label 4-5 toe cutaneous syndactyly NOT_TRANSLATED +en nl HP:6000504 rdfs:label Poly-hill sign NOT_TRANSLATED +en nl HP:6000505 rdfs:label 3-5 finger cutaneous syndactyly NOT_TRANSLATED +en nl HP:6000506 rdfs:label Radioulnar subluxation NOT_TRANSLATED +en nl HP:6000507 rdfs:label Non-pitting edema NOT_TRANSLATED +en nl HP:6000508 rdfs:label Anti-human ferritin peptide antibody positivity NOT_TRANSLATED +en nl HP:6000509 rdfs:label Elevated CSF L-2-hydroxyglutaric acid concentration NOT_TRANSLATED +en nl HP:6000510 rdfs:label Elevated erythrocyte inosine triphosphate concentration NOT_TRANSLATED +en nl HP:6000511 rdfs:label Reduced erythrocyte inosine triphosphatase activity NOT_TRANSLATED +en nl HP:6000512 rdfs:label Reduced circulating alpha-1,3-fucosyltransferase activity NOT_TRANSLATED +en nl HP:6000513 rdfs:label Diminished neutrophil myeloperoxidase activity NOT_TRANSLATED +en nl HP:6000514 rdfs:label Reduced erythrocyte uroporphyrinogen III cosynthase activity NOT_TRANSLATED +en nl HP:6000515 rdfs:label Elevated 18-hydroxycorticosterone to aldosterone ratio NOT_TRANSLATED +en nl HP:6000516 rdfs:label Elevated circulating 21-deoxycortisol concentration NOT_TRANSLATED +en nl HP:6000517 rdfs:label Elevated monolysocardiolipin/cardiolipin ratio NOT_TRANSLATED +en nl HP:6000518 rdfs:label Low maternal vitamin B12 concentration NOT_TRANSLATED +en nl HP:6000519 rdfs:label Elevated circulating inhibin A concentration NOT_TRANSLATED +en nl HP:6000520 rdfs:label Increased circulating inhibin B concentration NOT_TRANSLATED +en nl HP:6000521 rdfs:label Elevated circulating lipoprotein(a) concentration NOT_TRANSLATED +en nl HP:6000522 rdfs:label Reduced circulating lipoprotein(a) concentration NOT_TRANSLATED +en nl HP:6000523 rdfs:label Increased urinary bile acid level NOT_TRANSLATED +en nl HP:6000524 rdfs:label Abnormal urinary bile acid level NOT_TRANSLATED +en nl HP:6000525 rdfs:label Reduced erythrocyte glutathione reductase activity NOT_TRANSLATED +en nl HP:6000526 rdfs:label Failure to elevate lactate upon ischemic exercise test NOT_TRANSLATED +en nl HP:6000527 rdfs:label Elevated circulating cholestanol concentration NOT_TRANSLATED +en nl HP:6000528 rdfs:label Livestock exposure NOT_TRANSLATED +en nl HP:6000529 rdfs:label Synchronous skin lesions NOT_TRANSLATED +en nl HP:6000530 rdfs:label Serpentine skin location NOT_TRANSLATED +en nl HP:6000531 rdfs:label Abnormal urinary organic compound level NOT_TRANSLATED +en nl HP:6000532 rdfs:label Elevated urinary histamine level NOT_TRANSLATED +en nl HP:6000533 rdfs:label Elevated urinary N-methylhistamine level NOT_TRANSLATED +en nl HP:6000534 rdfs:label Elevated urinary ureidopropionic acid level NOT_TRANSLATED +en nl HP:6000535 rdfs:label Elevated urinary porphyrin level NOT_TRANSLATED +en nl HP:6000536 rdfs:label Elevated urinary coproporphyrin level NOT_TRANSLATED +en nl HP:6000537 rdfs:label Ecrrine sweat gland predominance NOT_TRANSLATED +en nl HP:6000538 rdfs:label Poorly demarcated skin lesion NOT_TRANSLATED +en nl HP:6000539 rdfs:label History of recent cat bite NOT_TRANSLATED +en nl HP:6000540 rdfs:label History of recent stay in area with inadequate sewage sanitation NOT_TRANSLATED +en nl HP:6000541 rdfs:label Positive cutaneous herpes simplex virus nucleic acid test NOT_TRANSLATED +en nl HP:6000542 rdfs:label Positive CSF mycobacterium tuberculosis nucleic acid test NOT_TRANSLATED +en nl HP:6000543 rdfs:label Posiitive mycobacterium CSF culture NOT_TRANSLATED +en nl HP:6000544 rdfs:label Positive mycobacterium CSF microscopy NOT_TRANSLATED +en nl HP:6000545 rdfs:label Positive treponema pallidum PCR test in the blood circulation NOT_TRANSLATED +en nl HP:6000546 rdfs:label Positive human Immunodeficiency virus nucleic acid test in the blood circulation NOT_TRANSLATED +en nl HP:6000547 rdfs:label Positive CSF enterovirus nucleic acid test NOT_TRANSLATED +en nl HP:6000548 rdfs:label Positive CSF Borrelia burgdorferi nucleic acid test NOT_TRANSLATED +en nl HP:6000549 rdfs:label Positive CSF arbovirus nucleic acid test NOT_TRANSLATED +en nl HP:6000550 rdfs:label Positive Bartonella henselae nucleic acid test in the blood circulation NOT_TRANSLATED +en nl HP:6000551 rdfs:label Positive Dengue virus PCR test in the blood circulation NOT_TRANSLATED +en nl HP:6000552 rdfs:label Positive CSF JC-virus nucleic acid test NOT_TRANSLATED +en nl HP:6000553 rdfs:label Bloodstream Malaria parasite NOT_TRANSLATED +en nl HP:6000554 rdfs:label Positive bloodstream plasmodium falciparum nucleic acid pathogen test NOT_TRANSLATED +en nl HP:6000555 rdfs:label Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity NOT_TRANSLATED +en nl HP:6000556 rdfs:label Reduced circulating dopamine beta-hydroxylase activity NOT_TRANSLATED +en nl HP:6000557 rdfs:label Reduced erythrocyte bisphosphoglycerate mutase activity NOT_TRANSLATED +en nl HP:6000558 rdfs:label Reduced erythrocyte adenylate kinase activity NOT_TRANSLATED +en nl HP:6000559 rdfs:label Reduced erythrocyte hexokinase activity NOT_TRANSLATED +en nl HP:6000560 rdfs:label Decreased circulating carboxypeptidase N activity NOT_TRANSLATED +en nl HP:6000561 rdfs:label Elevated red cell pyruvate kinase activity NOT_TRANSLATED +en nl HP:6000562 rdfs:label Reduced circulating adenosine deaminase-2 activity NOT_TRANSLATED +en nl HP:6000563 rdfs:label Reduced sepiapterin reductase activity in cultured fibroblasts NOT_TRANSLATED +en nl HP:6000564 rdfs:label Elevated circulating vasoactive intestinal peptide concentration NOT_TRANSLATED +en nl HP:6000565 rdfs:label Elevated circulating cholesterol sulfate concentration NOT_TRANSLATED +en nl HP:6000566 rdfs:label Elevated circulating lipoprotein X concentration NOT_TRANSLATED +en nl HP:6000567 rdfs:label Elevated circulating oxalate concentration NOT_TRANSLATED +en nl HP:6000568 rdfs:label Elevated blood ethylene glycol concentration NOT_TRANSLATED +en nl HP:6000569 rdfs:label Midline notching of lower lip NOT_TRANSLATED +en nl HP:6000570 rdfs:label Reduced tissue thymidine phosphorylase activity NOT_TRANSLATED +en nl HP:6000571 rdfs:label Reduced tissue tripeptidyl peptidase 1 activity NOT_TRANSLATED +en nl HP:6000572 rdfs:label Reduced tissue arginine:glycine amidinotransferase activity NOT_TRANSLATED +en nl HP:6000573 rdfs:label Reduced tissue aspartylglucosaminidase activity NOT_TRANSLATED +en nl HP:6000574 rdfs:label Reduced tissue carnitine-acylcarnitine translocase activity NOT_TRANSLATED +en nl HP:6000575 rdfs:label Reduced circulating 6-pyruvoyltetrahydropterin synthase activity NOT_TRANSLATED +en nl HP:6000576 rdfs:label Reduced tissue mannosyl-oligosaccharide glucosidase activity NOT_TRANSLATED +en nl HP:6000577 rdfs:label Reduced tissue 3-methylglutaconyl-CoA hydratase activity NOT_TRANSLATED +en nl HP:6000578 rdfs:label Reduced tissue gamma-glutamyltransferase activity NOT_TRANSLATED +en nl HP:6000579 rdfs:label Positive oropharangeal infectious agent test NOT_TRANSLATED +en nl HP:6000580 rdfs:label Positive oropharynx poliovirus nucleic acid test NOT_TRANSLATED +en nl HP:6000581 rdfs:label Positive synonvial fluid infectious agent test NOT_TRANSLATED +en nl HP:6000582 rdfs:label Positive synonvial fluid culture NOT_TRANSLATED +en nl HP:6000583 rdfs:label Positive synovial fluid gram stain NOT_TRANSLATED +en nl HP:6000584 rdfs:label Anti Parvovirus antibody positivity NOT_TRANSLATED +en nl HP:6000585 rdfs:label Brain parenchymal tuberculoma NOT_TRANSLATED +en nl HP:6000586 rdfs:label Muscle arteriovenous malformation NOT_TRANSLATED +en nl HP:6000587 rdfs:label Bone arteriovenous malformation NOT_TRANSLATED +en nl HP:6000588 rdfs:label Periosteal elevation NOT_TRANSLATED +en nl HP:6000589 rdfs:label Esophageal dilation NOT_TRANSLATED +en nl HP:6000590 rdfs:label Spinal lipoma NOT_TRANSLATED +en nl HP:6000591 rdfs:label Loose body in joint NOT_TRANSLATED +en nl HP:6000592 rdfs:label Paraspinal arteriovenous malformation NOT_TRANSLATED +en nl HP:6000593 rdfs:label Supernumerary tarsal bone NOT_TRANSLATED +en nl HP:6000594 rdfs:label Maxillary cyst NOT_TRANSLATED +en nl HP:6000595 rdfs:label Mandibular cyst NOT_TRANSLATED +en nl HP:6000596 rdfs:label Sixth cranial nerve hypoplasia NOT_TRANSLATED +en nl HP:6000597 rdfs:label Third cranial nerve hypoplasia NOT_TRANSLATED +en nl HP:6000598 rdfs:label Elevated urinary succinylacetone level NOT_TRANSLATED +en nl HP:6000599 rdfs:label Elevated urinary 2-oxoisocaproic level NOT_TRANSLATED +en nl HP:6000600 rdfs:label Elevated urinary 2-oxovaleric acid level NOT_TRANSLATED +en nl HP:6000601 rdfs:label Elevated urinary 2-hydroxyisocaproic acid level NOT_TRANSLATED +en nl HP:6000602 rdfs:label Elevated urinary isovalerylglycine level NOT_TRANSLATED +en nl HP:6000603 rdfs:label Elevated urinary 2-methyl-3-hydroxybutyric acid level NOT_TRANSLATED +en nl HP:6000604 rdfs:label Elevated urinary 3-hydroxypentanoic acid level NOT_TRANSLATED +en nl HP:6000605 rdfs:label Elevated urinary 7-hydroxyoctanoic acid level NOT_TRANSLATED +en nl HP:6000606 rdfs:label Elevated urinary D-glyceric acid level NOT_TRANSLATED +en nl HP:6000607 rdfs:label Elevated urinary 3-hydroxyisobutyric acid level NOT_TRANSLATED +en nl HP:6000608 rdfs:label Elevated urinary 3,4-Dihydroxybutyric acid level NOT_TRANSLATED +en nl HP:6000609 rdfs:label Elevated urinary 3-hydroxyadipic acid level NOT_TRANSLATED +en nl HP:6000610 rdfs:label Elevated erythrocyte galactose-1-phosphate concentration NOT_TRANSLATED +en nl HP:6000611 rdfs:label Elevated circulating chitotriosidase activity NOT_TRANSLATED +en nl HP:6000612 rdfs:label Squamosal suture synostosis NOT_TRANSLATED +en nl HP:6000613 rdfs:label Enlarged fetal lungs NOT_TRANSLATED +en nl HP:6000614 rdfs:label Orbital inflammation NOT_TRANSLATED +en nl HP:6000615 rdfs:label Reduced Inositol polyphosphate 5-phosphatase OCRL-1 activity in cultured fibroblasts NOT_TRANSLATED +en nl HP:6000616 rdfs:label Reduced muscle glycogen debrancher enzyme activity NOT_TRANSLATED +en nl HP:6000617 rdfs:label Reduced tissue UDP-glucuronyl-transferase activity NOT_TRANSLATED +en nl HP:6000618 rdfs:label Temporal artery giant cells NOT_TRANSLATED +en nl HP:6000619 rdfs:label Reduced phosphoenolpyruvate carboxykinase activity in cultured fibroblasts NOT_TRANSLATED +en nl HP:6000620 rdfs:label Elevated urinary pyrroline hydroxycarboxylic acid level NOT_TRANSLATED +en nl HP:6000621 rdfs:label Elevated urinary N-tau-ribosylhistidine level NOT_TRANSLATED +en nl HP:6000622 rdfs:label Elevated urinary ureidoisobutyric acid level NOT_TRANSLATED +en nl HP:6000623 rdfs:label Elevated urinary N-carbamyl-beta-aminoisobutyric acid level NOT_TRANSLATED +en nl HP:6000624 rdfs:label Nipple epidermal Paget cells NOT_TRANSLATED +en nl HP:6000625 rdfs:label Penile corporal blood gas ischemia NOT_TRANSLATED +en nl HP:6000626 rdfs:label Recent temporal region trauma NOT_TRANSLATED +en nl HP:6000627 rdfs:label Rest limb pain NOT_TRANSLATED +en nl HP:6000628 rdfs:label Scalloped appearance of liver surface NOT_TRANSLATED +en nl HP:6000629 rdfs:label Nipple thickening NOT_TRANSLATED +en nl HP:6000630 rdfs:label Hypoechoic breast mass NOT_TRANSLATED +en nl HP:6000631 rdfs:label Unilocular ovarian cyst NOT_TRANSLATED +en nl HP:6000632 rdfs:label Mesenteric torsion NOT_TRANSLATED +en nl HP:6000633 rdfs:label High-pitched bowel sounds NOT_TRANSLATED +en nl HP:6000634 rdfs:label Exacerbated by opiate medication NOT_TRANSLATED +en nl HP:6000635 rdfs:label Breast granuloma NOT_TRANSLATED +en nl HP:6000636 rdfs:label Exposure to cosmetic fragrances NOT_TRANSLATED +en nl HP:6000637 rdfs:label Sweating and flushing in the preauricular area in response to mastication NOT_TRANSLATED +en nl HP:6000638 rdfs:label Reduced hepatic glyoxylate reductase activity NOT_TRANSLATED +en nl HP:6000639 rdfs:label PAS-positive lymphocyte vacuolization NOT_TRANSLATED +en nl HP:6000640 rdfs:label Lipid-laden bone-marrow macrophages NOT_TRANSLATED +en nl HP:6000641 rdfs:label Bone marrow monocytosis NOT_TRANSLATED +en nl HP:6000642 rdfs:label Sunflower cataract NOT_TRANSLATED +en nl HP:6000643 rdfs:label Anti-lamin A antibody positivity NOT_TRANSLATED +en nl HP:6000644 rdfs:label Anti-lamin C antibody positivity NOT_TRANSLATED +en nl HP:6000645 rdfs:label Anti-vinculin antibody positivity NOT_TRANSLATED +en nl HP:6000646 rdfs:label Anti-annexin A5 antibody positivity NOT_TRANSLATED +en nl HP:6000647 rdfs:label Bulging fontanelle NOT_TRANSLATED +en nl HP:6000648 rdfs:label 3-4 toe cutaneous syndactyly NOT_TRANSLATED +en nl HP:6000649 rdfs:label Triangular nail NOT_TRANSLATED +en nl HP:6000650 rdfs:label Distal tibiofibular synostosis NOT_TRANSLATED +en nl HP:6000651 rdfs:label Abnormal metacarpal ossification NOT_TRANSLATED +en nl HP:6000652 rdfs:label Rib spur NOT_TRANSLATED +en nl HP:6000653 rdfs:label Crescent-shaped iliac bone NOT_TRANSLATED +en nl HP:6000654 rdfs:label Abnormal ischium ossification NOT_TRANSLATED +en nl HP:6000655 rdfs:label Femoral neck fracture NOT_TRANSLATED +en nl HP:6000656 rdfs:label Papillary dermis eosinophilic hyaline material NOT_TRANSLATED +en nl HP:6000657 rdfs:label Pancreatic intraductal papillary mucinous neoplasm NOT_TRANSLATED +en nl HP:6000658 rdfs:label Medium vessel vasculitis NOT_TRANSLATED +en nl HP:6000659 rdfs:label Elevated muscle fiber laminin alpha 5 expression NOT_TRANSLATED +en nl HP:6000660 rdfs:label Paravertebral mass NOT_TRANSLATED +en nl HP:6000661 rdfs:label Phlebolith NOT_TRANSLATED +en nl HP:6000662 rdfs:label Bladder rupture NOT_TRANSLATED +en nl HP:6000663 rdfs:label Elevated myocardial iron load NOT_TRANSLATED +en nl HP:6000664 rdfs:label Right ventricular regional wall motion abnormality NOT_TRANSLATED +en nl HP:6000665 rdfs:label Right ventricular regional akinesia NOT_TRANSLATED +en nl HP:6000666 rdfs:label Right ventricular regional dyskinesia NOT_TRANSLATED +en nl HP:6000667 rdfs:label Right ventricular aneurysm NOT_TRANSLATED +en nl HP:6000668 rdfs:label Glomerular immune-complex deposition NOT_TRANSLATED +en nl HP:6000669 rdfs:label Glomerular PLA2R immune-complex deposition NOT_TRANSLATED +en nl HP:6000670 rdfs:label Elevated urinary L-glycerate level NOT_TRANSLATED +en nl HP:6000671 rdfs:label Breast myxoma NOT_TRANSLATED +en nl HP:6000672 rdfs:label Ovarian cystadenoma NOT_TRANSLATED +en nl HP:6000673 rdfs:label Abnormal CSF N-acetylaspartic acid concentration NOT_TRANSLATED +en nl HP:6000674 rdfs:label Decreased CSF N-acetylaspartic acid concentration NOT_TRANSLATED +en nl HP:6000675 rdfs:label Elevated urinary mevalonate lactone level NOT_TRANSLATED +en nl HP:6000676 rdfs:label Anti-von Willebrand factor antibody positivity NOT_TRANSLATED +en nl HP:6000677 rdfs:label Elevated natural killer cell count NOT_TRANSLATED +en nl HP:6000678 rdfs:label Myositis-specific autoantibody positivity NOT_TRANSLATED +en nl HP:6000679 rdfs:label Abnormal serum osmolality NOT_TRANSLATED +en nl HP:6000680 rdfs:label Low serum osmolality NOT_TRANSLATED +en nl HP:6000681 rdfs:label High serum osmolality NOT_TRANSLATED +en nl HP:6000682 rdfs:label History of compressive dressings NOT_TRANSLATED +en nl HP:6000683 rdfs:label Triggered by overhead motions NOT_TRANSLATED +en nl HP:6000684 rdfs:label Radiating pain NOT_TRANSLATED +en nl HP:6000685 rdfs:label Mitral opening snap NOT_TRANSLATED +en nl HP:6000686 rdfs:label Mucus in stool NOT_TRANSLATED +en nl HP:6000687 rdfs:label Elevated circulating CCL3 concentration NOT_TRANSLATED +en nl HP:6000688 rdfs:label Elevated circulating CCL4 concentration NOT_TRANSLATED +en nl HP:6000689 rdfs:label Elevated CSF 14-3-3 protein concentration NOT_TRANSLATED +en nl HP:6000690 rdfs:label Elevated CSF dihydrobiopterin concentration NOT_TRANSLATED +en nl HP:6000691 rdfs:label Left atrial fibrosis NOT_TRANSLATED +en nl HP:6000692 rdfs:label Abnormal circulating atrial natriuretic peptide pro-hormone concentration NOT_TRANSLATED +en nl HP:6000693 rdfs:label Reduced circulating NT-proANP concentration NOT_TRANSLATED en nl RO:0000052 rdfs:label inheres in NOT_TRANSLATED en nl RO:0002314 rdfs:label inheres in part of NOT_TRANSLATED diff --git a/src/translations/hp-nl-preprocessed.babelon.tsv b/src/translations/hp-nl-preprocessed.babelon.tsv index f30f470b2..12a9b6db9 100644 --- a/src/translations/hp-nl-preprocessed.babelon.tsv +++ b/src/translations/hp-nl-preprocessed.babelon.tsv @@ -347,7 +347,7 @@ en nl HP:0000410 rdfs:label Mixed hearing impairment Gemengde slechthorendheid C en nl HP:0000411 rdfs:label Protruding ear Uitstekend oor CANDIDATE en nl HP:0000413 rdfs:label Atresia of the external auditory canal Atresie van het externe auditieve kanaal CANDIDATE en nl HP:0000414 rdfs:label Bulbous nose Bolvormige neus CANDIDATE -en nl HP:0000415 rdfs:label Abnormality of the choanae Afwijking van de choanae CANDIDATE +en nl HP:0000415 rdfs:label Abnormal choanae morphology Afwijking van de choanae CANDIDATE en nl HP:0000417 rdfs:label Slender nose Slanke neus CANDIDATE en nl HP:0000418 rdfs:label Narrow nasal ridge Smalle neusrug CANDIDATE en nl HP:0000419 rdfs:label Abnormal nasal septum morphology Afwijking van het neustussenschot CANDIDATE @@ -596,7 +596,7 @@ en nl HP:0000727 rdfs:label Frontal lobe dementia Frontale kwab dementie CANDIDA en nl HP:0000728 rdfs:label Impaired ability to form peer relationships Verminderde capaciteit om peer relaties te vormen CANDIDATE en nl HP:0000729 rdfs:label Autistic behavior Autistisch gedrag CANDIDATE en nl HP:0000732 rdfs:label Inflexible adherence to routines Rigide vasthouden aan routines of rituelen CANDIDATE -en nl HP:0000733 rdfs:label Abnormal repetitive mannerisms Stereotypie CANDIDATE +en nl HP:0000733 rdfs:label Motor stereotypy Stereotypie CANDIDATE en nl HP:0000734 rdfs:label Disinhibition Disinhibitie CANDIDATE en nl HP:0000735 rdfs:label obsolete Impaired social interactions Verminderde sociale interacties CANDIDATE en nl HP:0000736 rdfs:label Short attention span Korte concentratieperiode CANDIDATE @@ -1406,7 +1406,7 @@ en nl HP:0001896 rdfs:label Reticulocytopenia Reticulocytopenie CANDIDATE en nl HP:0001897 rdfs:label Normocytic anemia Normocytaire anemie CANDIDATE en nl HP:0001898 rdfs:label Increased red blood cell mass Verhoogde massa rode bloed cellen CANDIDATE en nl HP:0001899 rdfs:label Increased hematocrit Verhoogd hematocriet CANDIDATE -en nl HP:0001900 rdfs:label Increased hemoglobin Verhoogd hemoglobine CANDIDATE +en nl HP:0001900 rdfs:label Increased circulating hemoglobin concentration Verhoogd hemoglobine CANDIDATE en nl HP:0001901 rdfs:label Polycythemia Polycythemie CANDIDATE en nl HP:0001902 rdfs:label Giant platelets Reuze bloedplaatjes CANDIDATE en nl HP:0001903 rdfs:label Anemia Anemie CANDIDATE @@ -2018,7 +2018,7 @@ en nl HP:0002740 rdfs:label Recurrent E. coli infections Recidiverende E. coli-i en nl HP:0002741 rdfs:label Recurrent Serratia marcescens infections Recidiverende Serratia marcescens infecties CANDIDATE en nl HP:0002742 rdfs:label Recurrent Klebsiella infections Recidiverende Klebsiella-infecties CANDIDATE en nl HP:0002743 rdfs:label Recurrent enteroviral infections Recidiverende enterovirale infecties CANDIDATE -en nl HP:0002744 rdfs:label Bilateral cleft lip and palate Bilaterale gespleten lip en gehemelte CANDIDATE +en nl HP:0002744 rdfs:label obsolete Bilateral cleft lip and palate Bilaterale gespleten lip en gehemelte CANDIDATE en nl HP:0002745 rdfs:label Oral leukoplakia Orale leukoplakie CANDIDATE en nl HP:0002747 rdfs:label Respiratory insufficiency due to muscle weakness Respiratoire insufficiëntie als gevolg van spierzwakte CANDIDATE en nl HP:0002748 rdfs:label Rickets Rachitis CANDIDATE @@ -2501,7 +2501,7 @@ en nl HP:0003448 rdfs:label Decreased sensory nerve conduction velocity Verminde en nl HP:0003449 rdfs:label Cold-induced muscle cramps Koud-geïnduceerde spierkrampen CANDIDATE en nl HP:0003450 rdfs:label Axonal regeneration Axonale regeneratie CANDIDATE en nl HP:0003451 rdfs:label Increased rate of premature chromosome condensation Verhoogde snelheid van premature chromosoom condensatie CANDIDATE -en nl HP:0003452 rdfs:label Increased serum iron Verhoogd serum ijzer CANDIDATE +en nl HP:0003452 rdfs:label Increased circulating iron concentration Verhoogd serum ijzer CANDIDATE en nl HP:0003453 rdfs:label Antineutrophil antibody positivity Antineutrofiele antistoffen positiviteit CANDIDATE en nl HP:0003454 rdfs:label Platelet antibody positive Positieve antistoffen tegen bloedplaatjes CANDIDATE en nl HP:0003455 rdfs:label Elevated circulating long chain fatty acid concentration Verhoogde lange keten vetzuren CANDIDATE @@ -2597,7 +2597,7 @@ en nl HP:0003621 rdfs:label Juvenile onset Juveniele onset CANDIDATE en nl HP:0003623 rdfs:label Neonatal onset Neonatale onset CANDIDATE en nl HP:0003634 rdfs:label Amyoplasia Amyoplasie CANDIDATE en nl HP:0003635 rdfs:label Loss of subcutaneous adipose tissue in limbs Verlies van subcutaan vetweefsel in ledematen CANDIDATE -en nl HP:0003637 rdfs:label Reduced 4-Hydroxyphenylpyruvate dioxygenase level Verminderde 4-hydroxyfenylpyruvaat-dioxygenase activiteit CANDIDATE +en nl HP:0003637 rdfs:label Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity Verminderde 4-hydroxyfenylpyruvaat-dioxygenase activiteit CANDIDATE en nl HP:0003639 rdfs:label Elevated urinary epinephrine level Verhoogd urinair epinefrine CANDIDATE en nl HP:0003640 rdfs:label CNS foam cells Schuimcellen in viscerale organen en CZS CANDIDATE en nl HP:0003641 rdfs:label Hemoglobinuria Hemoglobinurie CANDIDATE @@ -3088,7 +3088,7 @@ en nl HP:0004426 rdfs:label Abnormal cheek morphology Afwijking van de wang CAND en nl HP:0004428 rdfs:label Elfin facies Elfachtig gelaat CANDIDATE en nl HP:0004429 rdfs:label Recurrent viral infections Recidiverende virale infecties CANDIDATE en nl HP:0004430 rdfs:label Severe combined immunodeficiency Severe combined immunodeficiency CANDIDATE -en nl HP:0004431 rdfs:label Complement deficiency Complement deficiëntie CANDIDATE +en nl HP:0004431 rdfs:label Reduced circulating complement concentration Complement deficiëntie CANDIDATE en nl HP:0004432 rdfs:label Agammaglobulinemia Agammaglobulinemie CANDIDATE en nl HP:0004433 rdfs:label Secretory IgA deficiency Secratoire IgA-deficiëntie CANDIDATE en nl HP:0004434 rdfs:label Decreased circulating complement C8 concentration C8 deficiëntie CANDIDATE @@ -3554,7 +3554,7 @@ en nl HP:0005280 rdfs:label Depressed nasal bridge Platte neusbrug CANDIDATE en nl HP:0005281 rdfs:label Hypoplastic nasal bridge Hypoplastische neusbrug CANDIDATE en nl HP:0005285 rdfs:label Absent nasal bridge Afwezige neusbrug CANDIDATE en nl HP:0005288 rdfs:label Abnormal nostril morphology Afwijking van de neusgaten CANDIDATE -en nl HP:0005289 rdfs:label Abnormality of the nasolabial region Afwijking van de nasolabiale regio CANDIDATE +en nl HP:0005289 rdfs:label Abnormal nasolabial region morphology Afwijking van de nasolabiale regio CANDIDATE en nl HP:0005290 rdfs:label Internal carotid artery hypoplasia Arteria carotis interna hypoplasie CANDIDATE en nl HP:0005291 rdfs:label Inflammatory arteriopathy Inflammatoire arteriopathie CANDIDATE en nl HP:0005292 rdfs:label Intimal thickening in the coronary arteries Verdikking van intima in coronair arteriën CANDIDATE @@ -4132,12 +4132,12 @@ en nl HP:0006409 rdfs:label Progressive leg bowing Progressieve bowing van been en nl HP:0006413 rdfs:label Broad tibial metaphyses Brede metafysen van tibia CANDIDATE en nl HP:0006414 rdfs:label Distal tibial bowing Bowing van distale tibia CANDIDATE en nl HP:0006415 rdfs:label Cortically dense long tubular bones Corticaal dichte lange tubulaire botten CANDIDATE -en nl HP:0006417 rdfs:label Broad femoral metaphyses Brede metafysen van femur CANDIDATE +en nl HP:0006417 rdfs:label Wide femoral metaphysis Brede metafysen van femur CANDIDATE en nl HP:0006420 rdfs:label Asymmetric radial dysplasia Assymetrische radius dysplasie CANDIDATE en nl HP:0006424 rdfs:label Elongated radius Verlengde radius CANDIDATE en nl HP:0006426 rdfs:label Rudimentary to absent tibiae Rudimentaire tot afwezige tibiae CANDIDATE en nl HP:0006429 rdfs:label Broad femoral neck Breed collum CANDIDATE -en nl HP:0006431 rdfs:label Proximal femoral metaphyseal abnormality Proximale femorale metafysaire afwijking CANDIDATE +en nl HP:0006431 rdfs:label Abnormal proximal femoral metaphysis morphology Proximale femorale metafysaire afwijking CANDIDATE en nl HP:0006432 rdfs:label Trapezoidal distal femoral condyles Trapezium-vormige distale femurcondylen CANDIDATE en nl HP:0006433 rdfs:label Radial dysplasia Dysplastische radii CANDIDATE en nl HP:0006434 rdfs:label Hypoplasia of proximal radius Hypoplasie van proximale radius CANDIDATE @@ -5223,7 +5223,7 @@ en nl HP:0008410 rdfs:label Subungual hyperkeratotic fragments Subunguale hyperk en nl HP:0008414 rdfs:label Lumbar kyphosis in infancy Lumbale kyfose in zuigelingenperiode CANDIDATE en nl HP:0008416 rdfs:label Six lumbar vertebrae Zes lumbale wervels CANDIDATE en nl HP:0008417 rdfs:label Vertebral hypoplasia Vertebrale hypoplasie CANDIDATE -en nl HP:0008419 rdfs:label Intervertebral disc degeneration Degeneratie van de tussenwervelschijf CANDIDATE +en nl HP:0008419 rdfs:label Intervertebral disk degeneration Degeneratie van de tussenwervelschijf CANDIDATE en nl HP:0008421 rdfs:label Tall lumbar vertebral bodies Hoge lumbale wervellichamen CANDIDATE en nl HP:0008423 rdfs:label Spinal dysplasia Spinale dysplasie CANDIDATE en nl HP:0008424 rdfs:label Hypoplastic 5th lumbar vertebrae Hypoplastische 5e lumbale wervel CANDIDATE @@ -5279,9 +5279,9 @@ en nl HP:0008490 rdfs:label Sacral segmentation defect Sacraal segmentatie defec en nl HP:0008491 rdfs:label Premature anterior fontanel closure Premature voorste fontanel sluiting CANDIDATE en nl HP:0008496 rdfs:label Multiple rows of eyelashes Multipele rijen van wimpers CANDIDATE en nl HP:0008497 rdfs:label Congenital craniofacial dysostosis Congenitale craniofaciale dysostose CANDIDATE -en nl HP:0008498 rdfs:label No permanent dentition Geen permanente dentitie CANDIDATE +en nl HP:0008498 rdfs:label obsolete No permanent dentition Geen permanente dentitie CANDIDATE en nl HP:0008499 rdfs:label High hypermetropia Hoge hypermetropie CANDIDATE -en nl HP:0008501 rdfs:label Median cleft lip and palate Mediaan gespleten lip en gehemelte CANDIDATE +en nl HP:0008501 rdfs:label obsolete Median cleft lip and palate Mediaan gespleten lip en gehemelte CANDIDATE en nl HP:0008504 rdfs:label Moderate sensorineural hearing impairment Matig perceptieve slechthorendheid CANDIDATE en nl HP:0008507 rdfs:label Static ophthalmoparesis Statische oftalmoparese CANDIDATE en nl HP:0008511 rdfs:label Central posterior corneal opacity Centrale posterieure corneale opaciteit CANDIDATE @@ -5324,7 +5324,7 @@ en nl HP:0008628 rdfs:label Abnormality of the stapes Afwijking van de stapes CA en nl HP:0008629 rdfs:label Pulsatile tinnitus Pulsatiele tinnitus CANDIDATE en nl HP:0008631 rdfs:label Ureteral dysgenesis Ureterale dysgenesie CANDIDATE en nl HP:0008633 rdfs:label Agonadism Afwezig gonadaal weefsel CANDIDATE -en nl HP:0008635 rdfs:label Hypertrophy of the urinary bladder Hypertrofie van de blaas CANDIDATE +en nl HP:0008635 rdfs:label Urinary bladder wall hypertrophy Hypertrofie van de blaas CANDIDATE en nl HP:0008636 rdfs:label obsolete Lobular glomerulopathy Lobulaire glomerulopathie CANDIDATE en nl HP:0008639 rdfs:label Gonadal hypoplasia Gonadale hypoplasie CANDIDATE en nl HP:0008640 rdfs:label Congenital macroorchidism Congenitaal macroorchidisme CANDIDATE @@ -5998,7 +5998,7 @@ en nl HP:0009591 rdfs:label Abnormality of the vestibulocochlear nerve Afwijking en nl HP:0009592 rdfs:label Astrocytoma Astrocytoom CANDIDATE en nl HP:0009593 rdfs:label Peripheral schwannoma Perifeer schwannoom CANDIDATE en nl HP:0009594 rdfs:label Retinal hamartoma Retinaal hamartoom CANDIDATE -en nl HP:0009595 rdfs:label Occasional neurofibromas Occasionele neurofibromen CANDIDATE +en nl HP:0009595 rdfs:label obsolete Occasional neurofibromas Occasionele neurofibromen CANDIDATE en nl HP:0009596 rdfs:label Aplasia of the proximal phalanx of the 2nd finger Aplasie van de proximale falanx van de 2e vinger CANDIDATE en nl HP:0009597 rdfs:label Short proximal phalanx of the 2nd finger Korte proximale falanx van de 2e vinger CANDIDATE en nl HP:0009598 rdfs:label Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal Symfalangisme van de proximale falanx van de 2e vinger met de 2e metacarpaal CANDIDATE @@ -6903,7 +6903,7 @@ en nl HP:0010582 rdfs:label Irregular epiphyses Irregulaire epifysen CANDIDATE en nl HP:0010583 rdfs:label Ivory epiphyses Ivoren epifysen CANDIDATE en nl HP:0010584 rdfs:label Pseudoepiphyses Pseudo-epifysen CANDIDATE en nl HP:0010585 rdfs:label Small epiphyses Kleine epifysen CANDIDATE -en nl HP:0010587 rdfs:label Triangular epiphyses Driehoekige epifysen CANDIDATE +en nl HP:0010587 rdfs:label Triangular epiphysis Driehoekige epifysen CANDIDATE en nl HP:0010588 rdfs:label Premature epimetaphyseal fusion Premature epimetafysaire fusie CANDIDATE en nl HP:0010590 rdfs:label Abnormality of the distal femoral epiphysis Afwijking van de distale epifyse van femur CANDIDATE en nl HP:0010591 rdfs:label Abnormality of the proximal tibial epiphysis Afwijking van de proximale epifyse van de tibia CANDIDATE @@ -6951,7 +6951,7 @@ en nl HP:0010636 rdfs:label Schizencephaly Schizencephalie CANDIDATE en nl HP:0010637 rdfs:label Conjunctival amyloidosis Conjunctivale amyloïdose CANDIDATE en nl HP:0010638 rdfs:label Elevated alkaline phosphatase of hepatic origin Verhoogd alkalisch fosfatase van hepatische oorsprong CANDIDATE en nl HP:0010639 rdfs:label Elevated alkaline phosphatase of bone origin Verhoogd alkalisch fosfatase met oorsprong van bot CANDIDATE -en nl HP:0010640 rdfs:label Abnormality of the nasal cavity Afwijking van de neusholte CANDIDATE +en nl HP:0010640 rdfs:label Abnormal nasal cavity morphology Afwijking van de neusholte CANDIDATE en nl HP:0010641 rdfs:label Abnormality of the midnasal cavity Afwijking van de midnasale holte CANDIDATE en nl HP:0010643 rdfs:label Midnasal atresia Midnasale atresie CANDIDATE en nl HP:0010644 rdfs:label Midnasal stenosis Midnasale stenose CANDIDATE @@ -7392,12 +7392,12 @@ en nl HP:0011108 rdfs:label Recurrent sinusitis Recidiverende sinusitis CANDIDAT en nl HP:0011109 rdfs:label Chronic sinusitis Chronische sinusitis CANDIDATE en nl HP:0011110 rdfs:label Recurrent tonsillitis Tonsillitis CANDIDATE en nl HP:0011111 rdfs:label Abnormal immune serum protein physiology Afwijking van immuun serum eiwit fysiologie CANDIDATE -en nl HP:0011112 rdfs:label Abnormality of serum cytokine level Afwijking in serum cytokine niveau CANDIDATE +en nl HP:0011112 rdfs:label Abnormal circulating cytokine concentration Afwijking in serum cytokine niveau CANDIDATE en nl HP:0011113 rdfs:label Abnormality of cytokine secretion Afwijking van cytokine secretie CANDIDATE en nl HP:0011114 rdfs:label Defective production of NFKB1-dependent cytokines Defecte productie van NFKB1-afhankelijke cytokines CANDIDATE -en nl HP:0011115 rdfs:label Abnormality of chemokine secretion Afwijking van chemokine secretie CANDIDATE -en nl HP:0011116 rdfs:label Abnormality of interferon secretion Afwijking van interferon secretie CANDIDATE -en nl HP:0011117 rdfs:label Abnormality of interleukin secretion Afwijking van interleukine secretie CANDIDATE +en nl HP:0011115 rdfs:label Abnormal circulating chemokine concentration Afwijking van chemokine secretie CANDIDATE +en nl HP:0011116 rdfs:label Abnormal circulating interferon concentration Afwijking van interferon secretie CANDIDATE +en nl HP:0011117 rdfs:label Abnormal circulating interleukin concentration Afwijking van interleukine secretie CANDIDATE en nl HP:0011118 rdfs:label Abnormality of tumor necrosis factor secretion Afwijking van tumor necrose factor secretie CANDIDATE en nl HP:0011119 rdfs:label Abnormal nasal dorsum morphology Afwijking van de neusrug CANDIDATE en nl HP:0011120 rdfs:label Concave nasal ridge Concave neusrug CANDIDATE @@ -8639,7 +8639,7 @@ en nl HP:0012513 rdfs:label Upper limb pain Pijn in bovenste extremiteit CANDIDA en nl HP:0012514 rdfs:label Lower limb pain Pijn in onderste extremiteit CANDIDATE en nl HP:0012515 rdfs:label Hip flexor weakness Heupflexor zwakte CANDIDATE en nl HP:0012516 rdfs:label Tetralogy of Fallot with pulmonary atresia Tetralogie van Fallot met pulmonale atresie CANDIDATE -en nl HP:0012517 rdfs:label Reduced catalase level Verminderde katalase activiteit CANDIDATE +en nl HP:0012517 rdfs:label Reduced circulating catalase activity Verminderde katalase activiteit CANDIDATE en nl HP:0012518 rdfs:label Abnormal circle of Willis morphology Afwijking van de cirkel van Willis CANDIDATE en nl HP:0012519 rdfs:label Hypoplastic posterior communicating artery Hypoplastische arteria communicans posterior CANDIDATE en nl HP:0012520 rdfs:label Dilation of Virchow-Robin spaces Perivasculaire ruimten CANDIDATE @@ -9778,7 +9778,7 @@ en nl HP:0030263 rdfs:label Torsion of the penis Torsie van de penis CANDIDATE en nl HP:0030265 rdfs:label Wide penis Brede penis CANDIDATE en nl HP:0030268 rdfs:label Hyperplastic callus formation Hyperplastische callusformatie CANDIDATE en nl HP:0030269 rdfs:label Increased circulating insulin-like growth factor 1 concentration Verhoogd serum insulin-like growth factor 1 CANDIDATE -en nl HP:0030272 rdfs:label Abnormal erythrocyte enzyme level Afwijjkende erytrocyt enzym activiteit CANDIDATE +en nl HP:0030272 rdfs:label Abnormal erythrocyte enzyme concentration or activity Afwijjkende erytrocyt enzym activiteit CANDIDATE en nl HP:0030273 rdfs:label Reduced red cell adenosine deaminase level Verminderde rode cel adenosine deaminase activiteit CANDIDATE en nl HP:0030274 rdfs:label Accessory scrotum Extra scrotum CANDIDATE en nl HP:0030275 rdfs:label Ectopic scrotum Ectopisch scrotum CANDIDATE @@ -9798,7 +9798,7 @@ en nl HP:0030295 rdfs:label Metaphyseal chondromatosis of femur Metafysaire chon en nl HP:0030296 rdfs:label Metaphyseal chondromatosis of radius Metafysaire chondromatose van radius CANDIDATE en nl HP:0030297 rdfs:label Metaphyseal chondromatosis of ulna Metafysaire chondromatose van ulna CANDIDATE en nl HP:0030298 rdfs:label Metaphyseal chondromatosis of humerus Metafysaire chondromatose van humerus CANDIDATE -en nl HP:0030299 rdfs:label Distal femoral metaphyseal abnormality Distale femorale metafysaire afwijking CANDIDATE +en nl HP:0030299 rdfs:label Abnormal distal femoral metaphysis morphology Distale femorale metafysaire afwijking CANDIDATE en nl HP:0030300 rdfs:label 10 pairs of ribs 10 paar ribben CANDIDATE en nl HP:0030301 rdfs:label Abnormality of the anterior commissure Afwijking van de voorste commissuur CANDIDATE en nl HP:0030302 rdfs:label Agenesis of the anterior commissure Agenesie van de voorste commissuur CANDIDATE @@ -9839,7 +9839,7 @@ en nl HP:0030350 rdfs:label Erythematous papule Erythemateuze papel CANDIDATE en nl HP:0030351 rdfs:label Urticarial plaque Urticariële plaque CANDIDATE en nl HP:0030352 rdfs:label Abnormal serum insulin-like growth factor 1 level Afwikend serum insulin-like growth factor 1 niveau CANDIDATE en nl HP:0030353 rdfs:label Decreased serum insulin-like growth factor 1 Afgenomen serum insulin-like growth factor 1 CANDIDATE -en nl HP:0030354 rdfs:label Abnormal circulating interferon concentration Afwijkend serum interferon niveau CANDIDATE +en nl HP:0030354 rdfs:label obsolete Abnormal circulating interferon concentration Afwijkend serum interferon niveau CANDIDATE en nl HP:0030355 rdfs:label Abnormal circulating interferon-gamma concentration Afwijkend serum interferon-gamma niveau CANDIDATE en nl HP:0030356 rdfs:label Increased circulating interferon-gamma concentration Verhoogd serum interferon-gamma niveau CANDIDATE en nl HP:0030357 rdfs:label Small cell lung carcinoma Kleincellig longcarcinoom CANDIDATE @@ -10431,7 +10431,7 @@ en nl HP:0031096 rdfs:label Delayed vertebral ossification Vertraagde vertebrale en nl HP:0031097 rdfs:label Abnormal thyroid-stimulating hormone level Afwijkend TSH niveau CANDIDATE en nl HP:0031098 rdfs:label Decreased thyroid-stimulating hormone level Afgenomen TSH niveau CANDIDATE en nl HP:0031099 rdfs:label Abnormal circulating inhibin level Afwijkend circulerend inhibine niveau CANDIDATE -en nl HP:0031100 rdfs:label Decreased inhibin B level Verlaagd inhibine B niveau CANDIDATE +en nl HP:0031100 rdfs:label Decreased circulating inhibin B concentration Verlaagd inhibine B niveau CANDIDATE en nl HP:0031101 rdfs:label Abnormal circulating antimullerian hormone concentration Afwijkend Anti-Müller-Hormoon niveau CANDIDATE en nl HP:0031102 rdfs:label Increased circulating antimullerian hormone concentration Toegenomen Anti-Müller-Hormoon niveau CANDIDATE en nl HP:0031103 rdfs:label Decreased cirrculating antimullerian hormone circulation Afgenomen Anti-Müller-Hormoon niveau CANDIDATE @@ -10453,7 +10453,7 @@ en nl HP:0031128 rdfs:label Impaired collagen-related peptide-induced platelet a en nl HP:0031134 rdfs:label Cor triatrium sinister Cor triatrium sinister CANDIDATE en nl HP:0031135 rdfs:label Triggered by physical trauma Uitgelokt door fysiek trauma CANDIDATE en nl HP:0031137 rdfs:label Storage in hepatocytes Opslag in hepatocyten CANDIDATE -en nl HP:0031138 rdfs:label Abnormal B-type natriuretic peptide concentration Afwijkend B-type natriuretisch peptide niveau CANDIDATE +en nl HP:0031138 rdfs:label Abnormal circulating B-type natriuretic peptide concentration Afwijkend B-type natriuretisch peptide niveau CANDIDATE en nl HP:0031139 rdfs:label Frog-leg posture Kikkerhouding CANDIDATE en nl HP:0031140 rdfs:label Abnormal liver sonography Afwijkende lever echografie CANDIDATE en nl HP:0031141 rdfs:label Increased hepatic echogenicity Toegenomen hepatische echogeniciteit CANDIDATE @@ -11005,7 +11005,7 @@ en nl HP:0040053 rdfs:label Long lower eyelashes Lange onderste wimpers CANDIDAT en nl HP:0040054 rdfs:label Short upper eyelashes Korte bovenste wimpers CANDIDATE en nl HP:0040055 rdfs:label Short lower eyelashes Korte onderste wimpers CANDIDATE en nl HP:0040056 rdfs:label Absent upper eyelashes Afwezige bovenste wimpers CANDIDATE -en nl HP:0040057 rdfs:label Abnormality of nasal hair Afwijking van nasale haar CANDIDATE +en nl HP:0040057 rdfs:label Abnormal nasal hair morphology Afwijking van nasale haar CANDIDATE en nl HP:0040059 rdfs:label Calcification of ribs Calcificaties van de ribben CANDIDATE en nl HP:0040061 rdfs:label Osteosclerosis of the radius Osteosclerose van de radius CANDIDATE en nl HP:0040062 rdfs:label Slender radius Slanke radius CANDIDATE @@ -11062,7 +11062,7 @@ en nl HP:0040126 rdfs:label Abnormal circulating vitamin B12 concentration Afwij en nl HP:0040127 rdfs:label Abnormal sweat homeostasis Afwijkende zweet homeostase CANDIDATE en nl HP:0040128 rdfs:label Abnormal sweat electrolytes Afwijkende zweet elektrolyten CANDIDATE en nl HP:0040129 rdfs:label Abnormal nerve conduction velocity Afwijkende zenuwgeleidingssnelheid CANDIDATE -en nl HP:0040130 rdfs:label Abnormal serum iron concentration Afwijkend serum ijzer CANDIDATE +en nl HP:0040130 rdfs:label Abnormal circulating iron concentration Afwijkend serum ijzer CANDIDATE en nl HP:0040131 rdfs:label Abnormal motor nerve conduction velocity Afwijkende motorische zenuwgeleidingssnelheid CANDIDATE en nl HP:0040132 rdfs:label Abnormal sensory nerve conduction velocity Afwijkende sensorische zenuwgeleidingssnelheid CANDIDATE en nl HP:0040133 rdfs:label Abnormal circulating ferritin concentration Afwijkend serum ferritine CANDIDATE @@ -11073,7 +11073,7 @@ en nl HP:0040138 rdfs:label Mucinous histiocytosis Mucineuze histiocytose CANDID en nl HP:0040139 rdfs:label Lipogranulomatosis Lipogranulomatose CANDIDATE en nl HP:0040140 rdfs:label Degeneration of the striatum Degeneratie van het striatum CANDIDATE en nl HP:0040141 rdfs:label Tardive dyskinesia Tardieve dyskinesie CANDIDATE -en nl HP:0040142 rdfs:label Reduced 5-oxoprolinase level 5-oxoprolinase deficiëntie CANDIDATE +en nl HP:0040142 rdfs:label Reduced circulating 5-oxoprolinase activity 5-oxoprolinase deficiëntie CANDIDATE en nl HP:0040143 rdfs:label Dystopic os odontoideum Dystopisch os odontoideum CANDIDATE en nl HP:0040144 rdfs:label L-2-hydroxyglutaric aciduria L-2-hydroxyglutaarzuuracidurie CANDIDATE en nl HP:0040145 rdfs:label Dicarboxylic acidemia Dicarboxylische acidemie CANDIDATE @@ -11220,7 +11220,7 @@ en nl HP:0040299 rdfs:label Decreased circulating free fatty acid level Afgenome en nl HP:0040300 rdfs:label Abnormal circulating free fatty acid concentration Afwijkend circulerend vrije vetzuur niveau CANDIDATE en nl HP:0040301 rdfs:label Increased urinary glycerol Verhoogd urine glycerol CANDIDATE en nl HP:0040302 rdfs:label Hyperglycerolemia Hyperglycerolemie CANDIDATE -en nl HP:0040303 rdfs:label Decreased serum iron Verminderd serum ijzer CANDIDATE +en nl HP:0040303 rdfs:label Decreased circulating iron concentration Verminderd serum ijzer CANDIDATE en nl HP:0040304 rdfs:label Duplication of the sella turcica Duplicatie van de sella turcica CANDIDATE en nl HP:0040305 rdfs:label Increased male libido Verhoogd mannelijk libido CANDIDATE en nl HP:0040306 rdfs:label Decreased male libido Afgenomen mannelijk libido CANDIDATE @@ -12214,7 +12214,7 @@ en nl HP:0100958 rdfs:label Narrow foramen obturatorium Small foramen obturatori en nl HP:0100959 rdfs:label Dense metaphyseal bands Dichte metafysaire banden CANDIDATE en nl HP:0100960 rdfs:label Lateral ventricular asymmetry Asymmetrische ventrikels CANDIDATE en nl HP:0100961 rdfs:label Enlarged hippocampus Vergrote hippocampus CANDIDATE -en nl HP:0100962 rdfs:label Shyness Verlegenheid CANDIDATE +en nl HP:0100962 rdfs:label Excessive shyness Verlegenheid CANDIDATE en nl HP:0100963 rdfs:label Hyperesthesia Hyperesthesie CANDIDATE en nl HP:0200000 rdfs:label Dysharmonic skeletal maturation Dysharmonische bot leeftijd CANDIDATE en nl HP:0200001 rdfs:label Dysharmonic accelerated bone age Dysharmonisch versnelde bot leeftijd CANDIDATE @@ -12411,7 +12411,7 @@ en nl HP:0550003 rdfs:label Proximal scleroderma Proximale sclerodermie CANDIDAT en nl HP:0550004 rdfs:label Verruca plana Verruca plana CANDIDATE en nl HP:3000002 rdfs:label Abnormal inner ear epithelium morphology Afwijkende binnenoor epitheel morfologie CANDIDATE en nl HP:3000003 rdfs:label Abnormal mandibular ramus morphology Afwijking van ramus mandibulae CANDIDATE -en nl HP:3000004 rdfs:label Abnormality of frontalis muscle belly Afwijking van musculus frontalis CANDIDATE +en nl HP:3000004 rdfs:label Abnormal frontalis muscle physiology Afwijking van musculus frontalis CANDIDATE en nl HP:3000005 rdfs:label Abnormality of masseter muscle Afwijking van musculus masseter CANDIDATE en nl HP:3000006 rdfs:label Abnormality of medial pterygoid muscle Afwijking van de musculus pterygoideus medialis CANDIDATE en nl HP:3000007 rdfs:label Abnormality of mentalis muscle Afwijking van musculus mentalis CANDIDATE diff --git a/src/translations/hp-nl.babelon.owl b/src/translations/hp-nl.babelon.owl index c115b4050..52a0cbc25 100644 --- a/src/translations/hp-nl.babelon.owl +++ b/src/translations/hp-nl.babelon.owl @@ -11,8 +11,8 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:babelon="https://w3id.org/babelon/"> - - 2024-03-06 + + 2024-04-03 @@ -4194,7 +4194,7 @@ Afwijking van de choanae en - Abnormality of the choanae + Abnormal choanae morphology nl CANDIDATE @@ -7182,7 +7182,7 @@ Stereotypie en - Abnormal repetitive mannerisms + Motor stereotypy nl CANDIDATE @@ -16902,7 +16902,7 @@ Verhoogd hemoglobine en - Increased hemoglobin + Increased circulating hemoglobin concentration nl CANDIDATE @@ -24242,7 +24242,7 @@ Bilaterale gespleten lip en gehemelte en - Bilateral cleft lip and palate + obsolete Bilateral cleft lip and palate nl CANDIDATE @@ -30038,7 +30038,7 @@ Verhoogd serum ijzer en - Increased serum iron + Increased circulating iron concentration nl CANDIDATE @@ -31190,7 +31190,7 @@ Verminderde 4-hydroxyfenylpyruvaat-dioxygenase activiteit en - Reduced 4-Hydroxyphenylpyruvate dioxygenase level + Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity nl CANDIDATE @@ -37082,7 +37082,7 @@ Complement deficiëntie en - Complement deficiency + Reduced circulating complement concentration nl CANDIDATE @@ -42674,7 +42674,7 @@ Afwijking van de nasolabiale regio en - Abnormality of the nasolabial region + Abnormal nasolabial region morphology nl CANDIDATE @@ -49608,7 +49608,7 @@ Brede metafysen van femur en - Broad femoral metaphyses + Wide femoral metaphysis nl CANDIDATE @@ -49668,7 +49668,7 @@ Proximale femorale metafysaire afwijking en - Proximal femoral metaphyseal abnormality + Abnormal proximal femoral metaphysis morphology nl CANDIDATE @@ -62698,7 +62698,7 @@ Degeneratie van de tussenwervelschijf en - Intervertebral disc degeneration + Intervertebral disk degeneration nl CANDIDATE @@ -63370,7 +63370,7 @@ Geen permanente dentitie en - No permanent dentition + obsolete No permanent dentition nl CANDIDATE @@ -63394,7 +63394,7 @@ Mediaan gespleten lip en gehemelte en - Median cleft lip and palate + obsolete Median cleft lip and palate nl CANDIDATE @@ -63910,7 +63910,7 @@ Hypertrofie van de blaas en - Hypertrophy of the urinary bladder + Urinary bladder wall hypertrophy nl CANDIDATE @@ -71998,7 +71998,7 @@ Occasionele neurofibromen en - Occasional neurofibromas + obsolete Occasional neurofibromas nl CANDIDATE @@ -82858,7 +82858,7 @@ Driehoekige epifysen en - Triangular epiphyses + Triangular epiphysis nl CANDIDATE @@ -83434,7 +83434,7 @@ Afwijking van de neusholte en - Abnormality of the nasal cavity + Abnormal nasal cavity morphology nl CANDIDATE @@ -88720,7 +88720,7 @@ Afwijking in serum cytokine niveau en - Abnormality of serum cytokine level + Abnormal circulating cytokine concentration nl CANDIDATE @@ -88756,7 +88756,7 @@ Afwijking van chemokine secretie en - Abnormality of chemokine secretion + Abnormal circulating chemokine concentration nl CANDIDATE @@ -88768,7 +88768,7 @@ Afwijking van interferon secretie en - Abnormality of interferon secretion + Abnormal circulating interferon concentration nl CANDIDATE @@ -88780,7 +88780,7 @@ Afwijking van interleukine secretie en - Abnormality of interleukin secretion + Abnormal circulating interleukin concentration nl CANDIDATE @@ -103680,7 +103680,7 @@ Verminderde katalase activiteit en - Reduced catalase level + Reduced circulating catalase activity nl CANDIDATE @@ -117348,7 +117348,7 @@ Afwijjkende erytrocyt enzym activiteit en - Abnormal erythrocyte enzyme level + Abnormal erythrocyte enzyme concentration or activity nl CANDIDATE @@ -117588,7 +117588,7 @@ Distale femorale metafysaire afwijking en - Distal femoral metaphyseal abnormality + Abnormal distal femoral metaphysis morphology nl CANDIDATE @@ -118080,7 +118080,7 @@ Afwijkend serum interferon niveau en - Abnormal circulating interferon concentration + obsolete Abnormal circulating interferon concentration nl CANDIDATE @@ -125184,7 +125184,7 @@ Verlaagd inhibine B niveau en - Decreased inhibin B level + Decreased circulating inhibin B concentration nl CANDIDATE @@ -125448,7 +125448,7 @@ Afwijkend B-type natriuretisch peptide niveau en - Abnormal B-type natriuretic peptide concentration + Abnormal circulating B-type natriuretic peptide concentration nl CANDIDATE @@ -132072,7 +132072,7 @@ Afwijking van nasale haar en - Abnormality of nasal hair + Abnormal nasal hair morphology nl CANDIDATE @@ -132756,7 +132756,7 @@ Afwijkend serum ijzer en - Abnormal serum iron concentration + Abnormal circulating iron concentration nl CANDIDATE @@ -132888,7 +132888,7 @@ 5-oxoprolinase deficiëntie en - Reduced 5-oxoprolinase level + Reduced circulating 5-oxoprolinase activity nl CANDIDATE @@ -134650,7 +134650,7 @@ Verminderd serum ijzer en - Decreased serum iron + Decreased circulating iron concentration nl CANDIDATE @@ -146578,7 +146578,7 @@ Verlegenheid en - Shyness + Excessive shyness nl CANDIDATE @@ -148942,7 +148942,7 @@ Afwijking van musculus frontalis en - Abnormality of frontalis muscle belly + Abnormal frontalis muscle physiology nl CANDIDATE diff --git a/src/translations/hp-nl.synonyms.owl b/src/translations/hp-nl.synonyms.owl index fc173dec0..7650e5fcb 100644 --- a/src/translations/hp-nl.synonyms.owl +++ b/src/translations/hp-nl.synonyms.owl @@ -8,8 +8,8 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - - 2024-03-06 + + 2024-04-03 diff --git a/src/translations/hp-nna.babelon.owl b/src/translations/hp-nna.babelon.owl index 15b65130f..a780d3d12 100644 --- a/src/translations/hp-nna.babelon.owl +++ b/src/translations/hp-nna.babelon.owl @@ -9,8 +9,8 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:babelon="https://w3id.org/babelon/"> - - 2024-03-06 + + 2024-04-03 diff --git a/src/translations/hp-tr-changed.babelon.tsv b/src/translations/hp-tr-changed.babelon.tsv index 971646154..e083a9f2f 100644 --- a/src/translations/hp-tr-changed.babelon.tsv +++ b/src/translations/hp-tr-changed.babelon.tsv @@ -14,9 +14,13 @@ en tr HP:0000204 IAO:0000115 A gap in the upper lip. This is a congenital defect en tr HP:0000326 rdfs:label Abnormality of the maxilla Maksilla anormalliği OFFICIAL en tr HP:0000372 IAO:0000115 An abnormality of the External acoustic tube (also known as the auditory canal) Dış akustik tüpün (işitme kanalı olarak da bilinen) anormalliği OFFICIAL en tr HP:0000372 rdfs:label Abnormality of the auditory canal İşitme kanalının anormalliği OFFICIAL +en tr HP:0000415 rdfs:label Abnormality of the choanae Koana anormalliği OFFICIAL +en tr HP:0000543 IAO:0000115 A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression Optik diskin (retinadaki optik sinir başı alanı) soluk sarı bir renk alması. Optik disk normalde ortasında sarımsı basıklık olan pembemsi bir tona sahiptir OFFICIAL en tr HP:0000587 rdfs:label Abnormality of the optic nerve Optik sinir anormalliği OFFICIAL en tr HP:0000618 IAO:0000115 Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation Körlük, fizyolojik veya nörolojik etkenlere bağlı olarak görsel algının azalmasıdır CANDIDATE +en tr HP:0000657 IAO:0000115 Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex Oküler motor apraksi istemli, yatay, yan, yavaş takip hareketlerinin korunduğu hızlı göz hareketlerindeki (salınımlar) eksikliklerdir. Görsel olarak nesneleri takip etmedeki yetenek sıklıkla kafa hareketleri ile telafi edilmektedir. Düz takipte azalma ve vestibülo-oküler refleksin ortadan kalkması olabilir OFFICIAL en tr HP:0000677 IAO:0000115 The absence of six or more teeth from the normal series by a failurento develop 6 dişten daha fazla dişin olmadığı azalmış diş sayısı ile karakterize bir gelişimsel anomali CANDIDATE +en tr HP:0000683 IAO:0000115 A grey discoloration of the dental enamel Diş minesinin grimsi renk değişikliği OFFICIAL en tr HP:0000708 IAO:0000115 An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities Duygulanımsal, davranışsal, bilişsel ve algısal anormalikleri içeren mental fonksiyon anormalliği OFFICIAL en tr HP:0000708 rdfs:label Behavioral abnormality Davranışsal anormallik OFFICIAL en tr HP:0000709 IAO:0000115 A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs Sıklıkla halüsinasyon ve hezeyansal inançların eşlik ettiği kişilik ve düşünme şeklinin değişmesi ile karakterize bir durum OFFICIAL @@ -31,7 +35,6 @@ en tr HP:0000722 rdfs:label Obsessive-compulsive behavior Obsesif-kompulsif davr en tr HP:0000723 IAO:0000115 Behavior characterized by an abnormal limitation to few interests and activities Anormal şekilde bir kaç aktiviteye ve ilgiye sınırlandırılması ile karakterize davranış OFFICIAL en tr HP:0000732 rdfs:label Inflexible adherence to routines or rituals Rutin veya ritüellere katı bağlılık OFFICIAL en tr HP:0000733 IAO:0000115 A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral Stereotipi istemli olarak baskılanabilen tekrarlayan, basit harekettir. Stereotipiler sallanma, el veya kolları çırpma gibi tipik olarak basit ileri ve geri hareketlerdir ve karmaşık diziler veya hareket bölümlerini içermez. Hareket sıklıkla ama her zaman olmayan şekilde ritmiktir ve parmakları, el bileklerini veya üst ekstremitenin daha proksimal kısımlarını içerebilir. Alt ekstremite tipik olarak dahil olmaz. Stereotipiler tek taraflı olmaktan ziyade çoğunlukla iki taraflıdır OFFICIAL -en tr HP:0000733 rdfs:label Motor stereotypy Stereotipi CANDIDATE en tr HP:0000734 IAO:0000115 A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment Sosyal adetlere aldırmama, dürtüsellik ve zayıf risk değerlendirmesi gibi çeşitli yollarla belirti veren bir kısıtlama eksikliği OFFICIAL en tr HP:0000735 rdfs:label Impaired social interactions Azalmış sosyal etkileşimler OFFICIAL en tr HP:0000736 IAO:0000115 Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder Dikkat dağınıklığı ve dürtüsellik ile karakterize fakat dikkat eksikliği hiperaktivite bozukluğu tanı kritelerine uymayan azalmış dikkat süresi OFFICIAL @@ -62,6 +65,7 @@ en tr HP:0001167 rdfs:label Abnormality of finger Parmak anormalliği OFFICIAL en tr HP:0001180 rdfs:label Hand oligodactyly El oligodaktilisi OFFICIAL en tr HP:0001218 IAO:0000115 Spontaneous detachment (amputation) of an appendage from the body Bir uzantının vücuttan spontan ayrılması (ampütasyon) OFFICIAL en tr HP:0001249 IAO:0000115 Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70 Gelişimsel dönem esnasında köken alan normalin altında entellektüel fonsiyon. Entellektüel yetersizlik, önceden zeka geriliği olarak anılıyordu, IQ skorlarının 70'in altında olması olarak tanımlanmaktadır OFFICIAL +en tr HP:0001250 IAO:0000115 A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain Nöbetler ani, aşırı, hastalık düzeyindeki serebral nöronların boşalımı nedeniyle oluşan klinik olarak his bozukluğu, bilinç kaybı, fiziksel fonksiyon bozukluğu veya konvulzif hareketler kombinasyonu ile karakterize merkezi sinir sisteminin aralar ile gerçekleşen anormalliğidir. Epilepsi terimi kronik, tekrar eden nöbetleri tanımlamak için kullanılmaktadır CANDIDATE en tr HP:0001254 IAO:0000115 A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating Basit eylemleri yerine getirmede veya konsantre olmada güçlük ile sonuçlanan ilgisizlik, uyuşukluk ve aldırmazlık hali OFFICIAL en tr HP:0001259 IAO:0000115 Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli Herhangi bir dış uyarana yanıt yokluğu ile kendini gösteren uyanıklık ve bilinç içeriğinin tamamen yokluğu OFFICIAL en tr HP:0001279 IAO:0000115 Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow Senkop, duruş tonusunun kaybı, ayakta duramama ve bilinç kaybı ile genel bir zayıflığa denmektedir. Hasta yatay pozisyona geldiğinde, beyine olan kan akışı daha fazla yer çekimi ile engellenmez ve bilinç geri kazanılır. Bilinçsizlik sıklıkla saniyeler ya da dakikalar içinde sonlanır. Baş ağrısı ve sersemlik (genellikle nöbeti takip eder) senkop atağını takip etmez. Senkop serebral kan akışının azalmasına bağlı olarak beyin metabolizmasının ani bozulması ile meydana gelir OFFICIAL @@ -84,16 +88,20 @@ en tr HP:0001761 IAO:0000115 The presence of an unusually high plantar arch. Als en tr HP:0001780 rdfs:label Abnormality of toe Ayak parmağı anormalliği OFFICIAL en tr HP:0001844 rdfs:label Abnormality of the hallux Ayak baş parmağı anormalliği OFFICIAL en tr HP:0001868 IAO:0000115 Spontaneous detachment of a foot from the body Ayağın, vücuttan kendiliğinden ayrılması OFFICIAL +en tr HP:0001900 rdfs:label Increased hemoglobin Artmış hemoglobin OFFICIAL en tr HP:0002006 rdfs:label Facial cleft Yüz yarığı OFFICIAL en tr HP:0002039 IAO:0000115 A lack or loss of appetite for food (as a medical condition) Yiyecek için iştah eksikliği ya da kaybı (tıbbi bir durum olarak) OFFICIAL en tr HP:0002047 IAO:0000115 Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine Malign hipertermi halotan gibi inhalasyon anestezik maddelere ya da süksinikolin gibi kas gevşeticilere cevap olarak sıcaklığın 39-42 C dereceye hızla çıkışı ile karakterizedir OFFICIAL en tr HP:0002062 rdfs:label Morphological abnormality of the pyramidal tract Piramidal yolun morfolojik anormalliği OFFICIAL +en tr HP:0002121 IAO:0000115 A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features Absans nöbetleri hareket ve uyanıklığın ani kesilmesi ile kendini gösterir. Absans nöbetleri genç yaş gruplarında meydana gelmeye eğimlidir, daha erken başlangıç ve bitişe sahiptir ve bozulmuş uyanıklık ile olan fokal nöbetlerin gösterdiğinden daha az karmaşık fakat ayrımının mutlak olmadığı otomatizmalar sergiler CANDIDATE +en tr HP:0002123 IAO:0000115 A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus Kas(lar) ın veya değişik topografideki (aksiyal, proksimal uzuv, distal) kas gruplarının ani, kısa (<100 ms) istemsiz tek veya çoklu kasılması(ları) ile olan nöbetler CANDIDATE en tr HP:0002143 IAO:0000115 An abnormality of the spinal cord (myelon) Omuriliğin (myelon) bir anormalliği OFFICIAL en tr HP:0002143 rdfs:label Abnormality of the spinal cord Omuriliğin anormalliği OFFICIAL en tr HP:0002151 rdfs:label Increased serum lactate Artmış serum laktatı OFFICIAL en tr HP:0002167 rdfs:label Neurological speech impairment Nörolojik konuşma bozukluğu OFFICIAL en tr HP:0002193 IAO:0000115 Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc Psödobulber belirtileri olan bireyler, kontrolsüz kahkaha veya ağlama vb. uygunsuz duygusal patlamalar gibi anormal davranışsal semptomları da sıklıkla göstermektedir OFFICIAL en tr HP:0002193 rdfs:label Pseudobulbar behavioral symptoms Psödobulber davranışsal belirtiler OFFICIAL +en tr HP:0002224 IAO:0000115 The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter NOT_TRANSLATED en tr HP:0002235 IAO:0000115 Uncombable hair Taranamayan saç OFFICIAL en tr HP:0002244 IAO:0000115 An abnormality of the small intestine İnce bağırsak anormalliği OFFICIAL en tr HP:0002244 rdfs:label Abnormality of the small intestine İnce bağırsak anormalliği OFFICIAL @@ -104,6 +112,7 @@ en tr HP:0002360 rdfs:label Sleep disturbance Uyku bozukluğu OFFICIAL en tr HP:0002367 IAO:0000115 Visual perceptions that are not elicited by a corresponding stimulus from the outside world Visual perceptions that are not elicited by a corresponding stimulus from the outside world NOT_TRANSLATED en tr HP:0002367 rdfs:label Visual hallucinations Görsel halüsinasyonlar OFFICIAL en tr HP:0002461 rdfs:label Dense calcifications in the cerebellar dentate nucleus Serebellar dentat çekirdekte yoğun kalsifikasyonlar OFFICIAL +en tr HP:0002476 IAO:0000115 The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant İlkel refleksler, normal erken gelişimde bulunan, daha sonra inhibe edilen, ancak serebral, genellikle frontal hasarla inhibisyondan salınabilen bir grup davranışsal motor tepkisidir. Bu nedenle, abartılı esnek refleksler ve ekstansör bataklıklar gibi serbest bırakma olaylarını yansıtan daha geniş bir refleks grubunun parçasıdırlar. Bununla birlikte, bu tür basit esnek reflekslerden daha karmaşık motor yanıtları içerirler ve genellikle yeni doğanlarda veya bebeklerde normal bir özelliktir CANDIDATE en tr HP:0002492 rdfs:label Morphological abnormality of the corticospinal tract Kortikospinal yolağın anormalliği CANDIDATE en tr HP:0002494 IAO:0000115 Abnormality of REM sleep. Phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tonus except for the eye and middle-ear muscles. There are then phases of rapid eye movements REM uykusunun anormalliği. REM uykusunun evreleri, senkronize edilmemiş EEG paternleri, kalp atış hızı ve kan basıncındaki artış, sempatik aktivasyon ve göz ve orta kulak kasları haricinde kas tonusunda derin bir kayıp ile karakterize edilir. Daha sonra hızlı göz hareketlerinin aşamaları vardır CANDIDATE en tr HP:0002514 IAO:0000115 The presence of calcium deposition within brain structures Beyin yapıları içerisinde kalsiyum birikiminin varlığı CANDIDATE @@ -113,6 +122,7 @@ en tr HP:0002585 rdfs:label Abnormality of the peritoneum Periton anormalliği O en tr HP:0002664 IAO:0000115 An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour) İyi huylu veya kötü huylu bir neoplazm (tümör) olarak vücudun herhangi bir yerinde görülebilen kontrolsüz özerk hücre çoğalmasından oluşan bir organ veya organ-sistem anormalliği OFFICIAL en tr HP:0002686 rdfs:label Prenatal maternal abnormality Prenatal maternal anormallik OFFICIAL en tr HP:0002693 rdfs:label Abnormality of the skull base Kafatası tabanının anormalliği OFFICIAL +en tr HP:0002744 rdfs:label Bilateral cleft lip and palate Çift taraflı yarık dudak ve damak OFFICIAL en tr HP:0002761 IAO:0000115 Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body Eklem hipermobilitesi (eklemin normal hareket aralığının ötesine geçme yeteneği) vücudun bir çok veya tüm eklemlerini etkilemektedir CANDIDATE en tr HP:0002761 rdfs:label Generalized joint laxity Genel eklem gevşekliği OFFICIAL en tr HP:0002813 rdfs:label Abnormality of limb bone morphology Ekstremite kemiği morfolojisinin anormalliği OFFICIAL @@ -133,6 +143,7 @@ en tr HP:0003172 IAO:0000115 An anomaly of the the pubic bone, i.e., of the vent en tr HP:0003172 rdfs:label Abnormality of the pubic bone Leğen kemiğinin anormalliği OFFICIAL en tr HP:0003174 rdfs:label Abnormality of the ischium İskiyum anormalliği OFFICIAL en tr HP:0003219 IAO:0000115 An increased concentration of ethylmalonic acid in the urine İdrar içinde artmış bir etilmalonik asit konsantrasyonu CANDIDATE +en tr HP:0003220 IAO:0000115 A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration Kromozomların değişime veya bozulmaya karşı direncini düşüren bir çeşit kromozomal sapma CANDIDATE en tr HP:0003223 IAO:0000115 Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12 Azalmış metilkobalamin konsantrasyonu. Metilkobalamin, B12 vitamininin bir formudur CANDIDATE en tr HP:0003223 rdfs:label Decreased methylcobalamin Azalmış metilkobalamin OFFICIAL en tr HP:0003234 IAO:0000115 A decreased concentration of carnitine in the blood Kandaki karnitin azaltılmış konsantrasyonu CANDIDATE @@ -142,27 +153,36 @@ en tr HP:0003310 IAO:0000115 Abnormality of the dens of the axis, which is also en tr HP:0003310 rdfs:label Abnormality of the odontoid process Odontoid proçesin anormalliği OFFICIAL en tr HP:0003345 IAO:0000115 An increased concentration of noradrenaline in the urine İdrar içinde artmış noradrenalin konsantrasyonu CANDIDATE en tr HP:0003345 rdfs:label Elevated urinary norepinephrine İdrarda artmış norepinefrin OFFICIAL +en tr HP:0003452 rdfs:label Increased serum iron Artmış serum demiri OFFICIAL en tr HP:0003528 rdfs:label Elevated calcitonin Yüksek kalsitonin OFFICIAL en tr HP:0003532 IAO:0000115 An increased concentration of ornithine in the urine İdrarda artmış bir ornitin konsantrasyonu OFFICIAL +en tr HP:0003637 IAO:0000115 An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase level 4-hidroksifenilpirüvat dioksijenaz aktivitesinde anormal bir azalma CANDIDATE +en tr HP:0003637 rdfs:label Reduced 4-Hydroxyphenylpyruvate dioxygenase level Azalmış 4-hidroksifenilpirüvat dioksijenaz aktivitesi CANDIDATE en tr HP:0003639 IAO:0000115 An increased concentration of adrenaline in the urine İdrarda artmış adrenalin konsantrasyonu OFFICIAL en tr HP:0003639 rdfs:label Elevated urinary epinephrine Artmış idrar epinefrini OFFICIAL en tr HP:0003657 rdfs:label Granular osmiophilic deposits (GROD) in cells Hücrelerde granüler osmiofilik birikimler (GROB) OFFICIAL en tr HP:0003741 rdfs:label Congenital muscular dystrophy Konjenital musküler distrofi OFFICIAL en tr HP:0003763 IAO:0000115 Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep, but also can occcur while the affected individual is awake Bruksizm, çenelerin tıkanması da dahil olmak üzere dişlerin öğütülmesi ile karakterize edilir ve tipik olarak uyku esnasında ortaya çıkar CANDIDATE en tr HP:0003839 rdfs:label Abnormality of upper limb epiphysis morphology Üst uzuv epifiz morfolojisinin anormalliği OFFICIAL +en tr HP:0004328 IAO:0000115 An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens) Göz yuvarlağının ön bölümünde bir anormallik (vitröz hümorun önündeki yapıları içerir: kornea, iris, silier cisim ve lens) CANDIDATE en tr HP:0004342 IAO:0000115 Abnormality of galactoside metabolism. A galactoside is a glycoside (a suger moiety bound to some other moiety) containing galactose Galaktozid metabolizması anormalliği OFFICIAL en tr HP:0004362 rdfs:label Abnormality of enteric ganglion morphology Enterik ganglion morfolojisinin anormalliği OFFICIAL en tr HP:0004372 rdfs:label Reduced consciousness/confusion Azalmış bilinçlilik/konfüzyon OFFICIAL en tr HP:0004376 IAO:0000115 A family of tumours arising in the embryonal remnants of the sympathetic nervous system, which includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma A family of tumours arising in the embryonal remnants of the sympathetic nervous system, which includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma NOT_TRANSLATED +en tr HP:0004398 IAO:0000115 The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the oesophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers Gastrointestinal kanalın bir ülseri CANDIDATE +en tr HP:0004431 rdfs:label Complement deficiency Kompleman eksikliği OFFICIAL en tr HP:0004434 IAO:0000115 A reduced level of the complement component C8 in circulation Kan dolaşımındaki C8 kompleman öğenin azaltılmış bir seviyesi CANDIDATE en tr HP:0004434 rdfs:label Decreased serum complement C8 C8 eksikliği CANDIDATE en tr HP:0004466 rdfs:label Prolonged brainstem auditory evoked potentials Uzatmiş beyinsapı işitme uyarşsş potansiyelleri CANDIDATE +en tr HP:0004857 IAO:0000115 A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin Anormal yüksek miktarda hemoglobin içeren anormal büyüklükte eritrositlerle karakterize edilen bir tür anemi CANDIDATE en tr HP:0004905 IAO:0000115 A reduced concentration of vitamin A A reduced concentration of vitamin A NOT_TRANSLATED en tr HP:0004905 rdfs:label Low levels of vitamin A Vitamin A eksikliği CANDIDATE en tr HP:0005019 rdfs:label Diaphyseal thickening Diyafizyal kalınlaşma OFFICIAL en tr HP:0005072 rdfs:label Hyperextensibility at wrists Bileklerde hiperekstansibilite OFFICIAL +en tr HP:0005106 IAO:0000115 Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs Vertebral disklerin üst ve alt kısımları olan vertebral uç plakalarının herhangi bir anormalliği, vertebral disklerle arabirim oluşturur CANDIDATE en tr HP:0005186 rdfs:label Synovial hypertrophy Sinoviyal hipertrofi OFFICIAL en tr HP:0005262 rdfs:label Abnormality of the synovia Eklem sıvısı anormalliği OFFICIAL +en tr HP:0005289 rdfs:label Abnormality of the nasolabial region Nazolabiyal bölgenin anormalliği OFFICIAL en tr HP:0005347 IAO:0000115 Tracheal cartilaginous sleeve (TCS) is a rare congenital airway malformation in which distinct tracheal rings are replaced by a continuous cartilaginous segment. Vertically fused C- or O-shaped cartilaginous rings can extend from the subglottis to the carina or bronchus with little to no pars membranacea posteriorly.nComment:Tracheal cartilaginous sleeve has been associated with various craniosynostosis syndromes Tracheal cartilaginous sleeve (TCS) is a rare congenital airway malformation in which distinct tracheal rings are replaced by a continuous cartilaginous segment. Vertically fused C- or O-shaped cartilaginous rings can extend from the subglottis to the carina or bronchus with little to no pars membranacea posteriorly.nComment:Tracheal cartilaginous sleeve has been associated with various craniosynostosis syndromes NOT_TRANSLATED en tr HP:0005356 IAO:0000115 A reduced level of the complement component Factor I in circulation Dolaşımdaki kompleman bileşeni Faktör I'nın azaltılmış bir seviyesi CANDIDATE en tr HP:0005356 rdfs:label Decreased serum complement factor I Azalmış serum kompleman faktör I OFFICIAL @@ -189,6 +209,8 @@ en tr HP:0006254 IAO:0000115 An increased concentration of alpha-fetoprotein Art en tr HP:0006254 rdfs:label Elevated alpha-fetoprotein Yükselmiş alfa-fetoprotein OFFICIAL en tr HP:0006344 rdfs:label Abnormality of primary molar morphology Molar süt dişi morfolojisinin anormalliği CANDIDATE en tr HP:0006380 IAO:0000115 A bent (flexed) knee joint that cannot be straightened actively or passively Aktif veya pasif hale getirilemeyen esnek (eğri) diz eklemi CANDIDATE +en tr HP:0006417 rdfs:label Broad femoral metaphyses Geniş femoral metafizler OFFICIAL +en tr HP:0006431 rdfs:label Proximal femoral metaphyseal abnormality Proksimal femoral metafizyal anormallik CANDIDATE en tr HP:0006477 rdfs:label Abnormality of the alveolar ridges Alveolar sırtların anormalliği OFFICIAL en tr HP:0006482 rdfs:label Abnormality of dental morphology Diş morfolojisinin anormalliği OFFICIAL en tr HP:0006499 rdfs:label Abnormality of femoral epiphysis Femoral epifiz anormalliği OFFICIAL @@ -206,9 +228,16 @@ en tr HP:0006977 rdfs:label Grammar-specific speech disorder Dil bilgisine özel en tr HP:0006979 IAO:0000115 Any abnormal alteration of an individual's circadian rhythm that affects the timing of sleeping and being awake Uyuma ve uyanık olma zamanlamasını etkileyen bireyin sirkadiyen ritminin herhangi bir anormal değişimi CANDIDATE en tr HP:0007081 rdfs:label Late-onset muscular dystrophy Geç başlangıçlı kas distrofisi OFFICIAL en tr HP:0007227 rdfs:label Macrogyria Makrogiri OFFICIAL +en tr HP:0007270 IAO:0000115 An atypical absence seizure is a type of generalised non-motor (absence) seizure characterised by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity Gizlice nitelenen yokluk tutulmaları başlar ve biter ve sık sık süreci uzatır, Elektroensefalografi üzerinde yavaş dik-dalga deşarjları tarafından eşlik edilir CANDIDATE +en tr HP:0007413 IAO:0000115 Naevus flammeus localised in the skin of the forehead Porto şarap lekesi alnın derisinde lokalizedir CANDIDATE en tr HP:0007544 IAO:0000115 Piebaldism is characterized by stable and persistent, well-circumscribed depigmented patches present at birth affecting the skin of the face, trunk, and extremities in a symmetrical distribution Piebaldizm simetrik bir dağılım içinde yüz, gövde ve eller ve ayakları etkileyen, doğumda var olan istikrarlı ve ısrarcı, düzgün sınırlı yırtıklar ile karakterizedir CANDIDATE en tr HP:0007544 rdfs:label Piebaldism Piebaldizm OFFICIAL en tr HP:0007576 rdfs:label Palmar neurofibromas Palmar nörofibromlar OFFICIAL +en tr HP:0007616 IAO:0000115 Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns Naevus flammeus un boyun derisine yerleşmesi. Bu, en yaygın doğum lekelerinden biridir ve tüm yeni doğanların yaklaşık% 25'inde mevcuttur CANDIDATE +en tr HP:0007634 IAO:0000115 An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates Akut bir durum, ani görme kaybı (genellikle sabahları ortaya çıkar) başlangıçta optik disk ödemi, optik diske bağlı görme bozukluklarıyla karakterize edilir. Nonarteritik anterior iskemik optik nöropati, şişmiş disk üzerinde ya da yakındaki nöroretinal tabakada alev şeklinde kanamalarla ve yakınlardaki pamuklu-yün şeklindeki eksüdalarla bağlantılı olabilir CANDIDATE +en tr HP:0007773 IAO:0000115 Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment Artmış retinal dekolman riski ile ilişkili olabilen vitrözün ve retinanın prematür dejenerasyonu ile karakterize oküler anormallik OFFICIAL +en tr HP:0007894 IAO:0000115 Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid) Fundusun pigmentasyonunun azalması, tipik olarak genelleştirilebilir. Fundoskopi RPE de koroid damarlarının berrak görünebilirliği ile (renksiz / albinoid) veya koroiddeki derin pigmentli RPE de düşük pigment seviyesi ile RPE de ve koroidde düşük seviyeli bir pigment ortaya çıkarabilir, böylece görünür koroid damarları derin pigmentli bölgeler (mozaik / benekli) ile ayrılır CANDIDATE +en tr HP:0007968 IAO:0000115 Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract Optik diskten arka mercek kapsülüne kadar uzanan embriyonik arter olan hiyaloid arterinin inatçılığı devam edebilir; bağlanma yeri opaklık oluşturabilir. Hiyaloid arter oftalmik arterin bir dalıdır ve genellikle doğumdan önce tamamen geriler. Bu özellikler, embriyogenez sırasında primer vitreusa neden olan ve genellikle gebeliğin üçüncü üç aylık döneminde gerileyen hiyaloid damarın gerilemesindeki başarısızlıktan kaynaklanır ve belirli bir posterior katarakt şekline neden olur CANDIDATE en tr HP:0008075 rdfs:label Progressive pes cavus İlerleyici pes kavus OFFICIAL en tr HP:0008112 rdfs:label Plantar flexion contractures Plantar fleksiyon kontraktürleri OFFICIAL en tr HP:0008160 IAO:0000115 An increase in the level of 3-hydroxydicarboxylic acid in the urine İdrarda 3-hidroksidikarboksilik asit seviyelerinde bir artış OFFICIAL @@ -218,9 +247,14 @@ en tr HP:0008344 IAO:0000115 An increased concentration of a branched chain amin en tr HP:0008344 rdfs:label Elevated plasma branched chain amino acids Plazmada yükselmiş dallı zincirli amino asitler OFFICIAL en tr HP:0008372 rdfs:label Abnormality of vitamin A metabolism A vitamini metabolizması anormalliği OFFICIAL en tr HP:0008376 rdfs:label Nasal, dysarthic speech Nazal, disartik konuşma OFFICIAL +en tr HP:0008419 rdfs:label Intervertebral disc degeneration İntervertebral disk dejenerasyonu OFFICIAL en tr HP:0008480 IAO:0000115 The presence of arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column Servikal vertebral kolonu etkileyen artrozis diğer bir deyişle dejeneratif eklem hastalığı CANDIDATE +en tr HP:0008498 rdfs:label No permanent dentition Kalıcı dişlenmenin olmaması OFFICIAL +en tr HP:0008501 rdfs:label Median cleft lip and palate Orta hat yarık dudak ve damak OFFICIAL en tr HP:0008572 rdfs:label External ear malformation Dış kulak malformasyonu OFFICIAL en tr HP:0008609 rdfs:label Morphological abnormality of the middle ear Orta kulağın morfolojik anormalliği OFFICIAL +en tr HP:0008635 IAO:0000115 Abnormal enlargement of the urinary bladder Mesanenin anormal genişlemesi OFFICIAL +en tr HP:0008635 rdfs:label Hypertrophy of the urinary bladder Mesane hipertrofisi OFFICIAL en tr HP:0008636 rdfs:label Lobular glomerulopathy Lobüler glomerülopati OFFICIAL en tr HP:0008765 IAO:0000115 The false perception of sound The false perception of sound NOT_TRANSLATED en tr HP:0008765 rdfs:label Auditory hallucinations İşitsel halüsinasyonlar OFFICIAL @@ -232,17 +266,24 @@ en tr HP:0008830 rdfs:label Hypoplastic pubic rami Hipoplastik pubik rami OFFICI en tr HP:0009380 IAO:0000115 Aplasia of one or more fingers Bir veya daha fazla parmağın aplazisi OFFICIAL en tr HP:0009380 rdfs:label Aplasia of the fingers Parmakların aplazisi OFFICIAL en tr HP:0009591 IAO:0000115 Abnormality of the vestibulocochlear nerve, the eighth cranial nerve, which is involved in transmitting sound and equilibrium information from the inner ear to the brain Ses ve denge bilgisini iç kulaktan beyne iletmede yer alan vestibülokohlear sinirin, sekizinci kraniyal sinir, anormalliği OFFICIAL +en tr HP:0009595 rdfs:label Occasional neurofibromas Nadir nörofibromlar OFFICIAL en tr HP:0009600 IAO:0000115 Chronic loss of joint motion in the thumb due to structural changes in non-bony tissue. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected Kemiksi olmayan dokuda yapısal değişiklikler yüzünden baş parmakta kronik eklem hareketi kaybı. Kamptodaktili terimi distal ve/veya proksimal interfalangiyal eklemler etkilendiyse kullanılır OFFICIAL en tr HP:0009600 rdfs:label Flexion contracture of thumb Baş parmağın fleksiyon kontraktürü OFFICIAL en tr HP:0009624 rdfs:label Contractures of the carpometacarpal joint of the thumb Baş parmağın karpometakarpal ekleminin kontraktürleri OFFICIAL en tr HP:0009625 rdfs:label Contractures of the metacarpophalangeal joint of the thumb Baş parmağın metakarpofalangeyal ekleminin kontraktürleri OFFICIAL en tr HP:0009626 rdfs:label Contractures of the interphalangeal joint of the thumb El baş parmağının interfalangeyal eklem kontraktürleri OFFICIAL +en tr HP:0009727 IAO:0000115 Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina Pigmentasyonu eksik retina sahaları. Boyut olarak 1 disk çapından daha az ve retinanın orta periferinde yer almaya meyilli delikli koryoretinal hipopigmentasyon sahaları OFFICIAL en tr HP:0009728 IAO:0000115 A benign or malignant neoplasm (tumour) originating in striated muscle, either skeletal muscle or cardiac muscle Çizgili kastan, ya iskelet kası ya da kalp kası, köken alan selim veya habis bir neoplazm (tümör) OFFICIAL en tr HP:0009735 IAO:0000115 Neurofibromas originating in the spine Omurgadan köken alan nörofibromlar OFFICIAL en tr HP:0009735 rdfs:label Spinal neurofibromas Spinal nörofibrom OFFICIAL en tr HP:0009804 IAO:0000115 The absence of one or more teeth from the normal series by a failurento develop Hipodontide veya anodontide olduğu gibi azalmış diş sayısı varlığı CANDIDATE +en tr HP:0009922 IAO:0000115 Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth Şeffaf arterin kalıcılığı, buda arka mercek kapsülünün optik diskten çalıştırılan embriyonik arteri sürdürebilir; bağlılığın yeri opaklık oluşturabilir. Şeffaf arter gözle ilgili arterin dalıdır, ve genellikle doğumdan önce tamamen geri çekilir CANDIDATE +en tr HP:0009922 rdfs:label Vascular remnant arising from the disc Diskten köken alan vasküler kalıntı OFFICIAL en tr HP:0010160 rdfs:label Abnormality of the epiphyses of the toes Ayak baş parmaklarının epifizlerinin anormalliği CANDIDATE en tr HP:0010161 rdfs:label Abnormality of the phalanges of the toes Ayak baş parmaklarının falankslarının anormalliği CANDIDATE +en tr HP:0010223 IAO:0000115 The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present Üçüncü metakarpalin normal epifizi metakarpal kemiğin distal ucunda yerleşmiştir. Bu terim eğer metakarpal kemiğin proksimal ucunda yer alan aksesuvar bir epifiz varlığında geçerlidir OFFICIAL +en tr HP:0010225 IAO:0000115 The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present Dördüncü metakarpalin normal epifizi metakarpal kemiğin distal ucunda yerleşmiştir. Bu terim eğer metakarpal kemiğin proksimal ucunda yer alan aksesuvar bir epifiz varlığında geçerlidir OFFICIAL +en tr HP:0010227 IAO:0000115 The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present Beşinci metakarpalin normal epifizi metakarpal kemiğin distal ucunda yerleşmiştir. Bu terim eğer metakarpal kemiğin proksimal ucunda yer alan aksesuvar bir epifiz varlığında geçerlidir OFFICIAL en tr HP:0010289 IAO:0000115 A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth Alveolar çıkıntılarından birini etkileyen bir boşluk (yarık), ki bunlar dişlerin soketlerini (alveol) içeren ağız içindeki çıkıntılardır. Bir alveol yarık alveolar çıkıntının tüm yapılarını etkileyebilir, diş eti, diğer mukoza, kemik zarı, alveol kemiği ve dişler dahil edilir CANDIDATE en tr HP:0010289 rdfs:label Cleft of alveolar ridge of maxilla Yarık maksilla alveoler sırtı OFFICIAL en tr HP:0010300 IAO:0000115 An abnormally low-pitched voice Anormal olarak düşük perdeli bir ses OFFICIAL @@ -260,13 +301,18 @@ en tr HP:0010535 IAO:0000115 An intermittent cessation of airflow at the mouth a en tr HP:0010536 IAO:0000115 Sleep apnea resulting from a transient abolition of the central drive to the ventilatory muscles Ventilasyon kaslarının merkezi çalışmasının geçiçi abolisyonundan kaynaklanan uyku apnesi CANDIDATE en tr HP:0010569 IAO:0000115 Elevated 7-dehydrocholesterol levels Artmış 7-dehidrokolesterol seviyeleri OFFICIAL en tr HP:0010569 rdfs:label Elevated 7-dehydrocholesterol Yükselmiş 7-dehidrokolesterol OFFICIAL +en tr HP:0010587 rdfs:label Triangular epiphyses Üçgen epifizler OFFICIAL en tr HP:0010593 rdfs:label Abnormality of fibular epiphyses Fibular epifizlerin anormalliği OFFICIAL +en tr HP:0010603 IAO:0000115 A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour Selim, tekli veya çoklu kistik, odontojenik kökenli parakeratinize tabakalanmış skuamöz epitelyum ve agresif, infiltratif davranış potansiyelli kemik içi bir tümör OFFICIAL en tr HP:0010609 IAO:0000115 Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumours that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region Akrokorda veya fibroepitelyal polip olarak da bilinen deride çıkan et benleri, boyun, koltuk altı veya kasık gibi yerlerde ve hatta doğuştan veya doğumda mevcut olabilen, bu durumda genellikle periauriküler bölgede ortaya çıkan geçici veya kalıcı olabilen küçük iyi huylu tümörlerdir CANDIDATE en tr HP:0010630 rdfs:label Abnormality of metatarsal epiphysis Metatarsal epifiz anormalliği OFFICIAL +en tr HP:0010640 rdfs:label Abnormality of the nasal cavity Nazal kavite anormalliği OFFICIAL en tr HP:0010663 rdfs:label Abnormality of thalamus morphology Talamus morfolojisi anormalliği OFFICIAL en tr HP:0010674 rdfs:label Abnormality of the curvature of the vertebral column Vertebral kolon eğriliğinin anormalliği OFFICIAL +en tr HP:0010733 IAO:0000115 Naevus flammeus localised in the skin of the eyelid Göz kapağı derisinde yer alan nevüs flammeus OFFICIAL en tr HP:0010762 IAO:0000115 A chordoma is a tumors that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis Kordoma, nöraksis boyunca notokordun embriyonik kalıntılarından köken alan bir tümördür. Kordomalar genellikle sakrumda, intrakraniyal olarak da klivus veya spinal aks boyunca meydana gelir OFFICIAL en tr HP:0010790 rdfs:label Hyoplasia of the Leydig cells Leydig hücrelerinin hipoplazisi OFFICIAL +en tr HP:0010818 IAO:0000115 A generalized tonic seizure is a type of generalized motor seizure characterised by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities Bir kaç saniyeden dakikalar içinde sonlanan kas kasılmasında uzamış artış ile olan genel nöbetler CANDIDATE en tr HP:0010824 IAO:0000115 Any structural abormality of the fifth cranial nerve Beşinci kraniyal sinirin bir anormalliği CANDIDATE en tr HP:0010827 rdfs:label Abnormality of the seventh cranial nerve Yedinci kraniyal sinirin anormalliği CANDIDATE en tr HP:0010865 IAO:0000115 An enduring pattern of uncooperative, defiant, and hostile behavior toward authority figures that does not involve major antisocial violations, is not accounted for by the child's developmental stage, and results in significant functional impairment. A certain level of oppositional behavior is common in children and adolescents Büyük antisosyal şiddet içermeyen, otorite figürlerine yönelik işbirliği yapmayan, karşı koyucu ve düşmanca davranış sergileyen kalıcı bir model, çocuğun gelişim aşamasında hesaba katılmaz ancak işlevsel bozukluklarla sonuçlanır. Belirli bir seviyedeki aksin (karşıt) davranış, çocuklarda ve ergenlerde sık görülür CANDIDATE @@ -277,14 +323,30 @@ en tr HP:0010982 IAO:0000115 A type of multifactorial inheritance governed by th en tr HP:0011021 rdfs:label Abnormality of circulating enzyme level Dolaşımdaki enzim düzeyinin anormalliği OFFICIAL en tr HP:0011071 rdfs:label Abnormality of permanent molar morphology Kalıcı molar morfolojinin anormalliği OFFICIAL en tr HP:0011111 rdfs:label Abnormality of immune serum protein physiology Serumda immün protein fizyolojisi anormalliği OFFICIAL +en tr HP:0011112 rdfs:label Abnormality of serum cytokine level Serum sitokin düzeyi anormalliği OFFICIAL +en tr HP:0011115 rdfs:label Abnormality of chemokine secretion Kemokin salınımı anormalliği OFFICIAL +en tr HP:0011116 IAO:0000115 An abnormality in the production or cellular release of interferons (a class of cytokines) İnterferonların (bir sitokin sınıfı) üretiminde veya hücresel salınımında bir anormallik OFFICIAL +en tr HP:0011116 rdfs:label Abnormality of interferon secretion İnterferon salınımı anormalliği OFFICIAL +en tr HP:0011117 IAO:0000115 An abnormality in the production or cellular release of interleukins (a class of cytokines) İnterlökinlerin (bir sitokin sınıfı) üretiminde veya hücresel salınımında anormallik OFFICIAL +en tr HP:0011117 rdfs:label Abnormality of interleukin secretion İnterlökin salınımı anormalliği OFFICIAL en tr HP:0011121 rdfs:label Abnormality of skin morphology Cilt morfolojisinin anormalliği OFFICIAL en tr HP:0011138 rdfs:label Abnormality of skin adnexa morphology Deri ekleri morfolojisinin anormalliği OFFICIAL +en tr HP:0011146 IAO:0000115 A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event NOT_TRANSLATED +en tr HP:0011147 IAO:0000115 A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event Tipik absanslar ani başlangıçlı ve ani bitişli bilinç bozukluğunun saniyeler kadar kısa sürdüğü generalize epileptik nöbetlerdir CANDIDATE +en tr HP:0011149 IAO:0000115 An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterised by forced upward jerking of the eyelids during an absence seizure Ek olarak göz kapağı myoklonisi ile karakterize absans nöbetleri CANDIDATE +en tr HP:0011150 IAO:0000115 Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterised by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017 Kolların ve omuzların EEG boşalımları ile senkronize olduğu, kolların ek tonik bileşenleri ile olan ek olarak ritmik bilateral myoklonus ile karakterize olan absans nöbetleri CANDIDATE +en tr HP:0011159 IAO:0000115 A type of focal autonomic seizure characterised by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature Bulantı, boşluk, sıkılık, çalkalama, kelebekler, bitkinlik, ağrı ve açlık dahil hissin göğüse veya boğaza yükselebildiği abdominal rahatsızlık ile olan auralar. Bazı fenomenler iktal otonomik disfonksiyonu yansıtabilir CANDIDATE +en tr HP:0011165 IAO:0000115 A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation Işık çakması veya parlaması, noktalar, basit paternler, skotoma veya amorozis hisli auralar CANDIDATE +en tr HP:0011169 IAO:0000115 Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups 2-3 döngü/saniye frekansta aynı kas gruplarını içeren düzenli tekrar eden myoklonuslu nöbetler CANDIDATE +en tr HP:0011175 IAO:0000115 A type of focal motor seizure characterised by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation Uzamış, zorlanmış konjuge oküler, sefalik ve/veya trunkal rotasyon veya orta hattan lateral deviasyon ile olan tonik nöbetler CANDIDATE en tr HP:0011278 rdfs:label Intrapulmonary sequestration İntrapulmoner sekestrasyon OFFICIAL en tr HP:0011340 IAO:0000115 A subtle unilateral cleft of the upper lip, which may appear as a small indentation Küçük bir çentikleşme olarak görülebilen üst dudağın hafif unilateral yarığı OFFICIAL +en tr HP:0011359 IAO:0000115 Hair that lacks the lustre (shine or gleam) of normal hair Normal saç parıltısı (parlaklık veya ışıltı) eksik olan saç OFFICIAL en tr HP:0011376 rdfs:label Morphological abnormality of the vestibule of the inner ear İç kulağın verstibülünün morfolojik anormalliği OFFICIAL en tr HP:0011380 rdfs:label Morphological abnormality of the semicircular canal Yarım daire kanallarının morfolojik anormalliği OFFICIAL en tr HP:0011390 rdfs:label Morphological abnormality of the inner ear İç kulağın morfolojik anormalliği OFFICIAL en tr HP:0011391 rdfs:label Morphological abnormality of the nerves of the inner ear İç kulak sinirlerinin morfolojik anormalliği OFFICIAL +en tr HP:0011412 IAO:0000115 Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately Doğumun ikinci evresi uygun şekilde ilerlemediği zaman doğumu asiste etmek için kullanılan bir vakum cihazı olan vantuz aracılığı ile yenidoğanın doğumu OFFICIAL en tr HP:0011432 rdfs:label High maternal circulating alpha-fetoprotein concentration Yüksek maternal serum alfa-fetoprotein CANDIDATE en tr HP:0011446 rdfs:label Abnormality of higher mental function İleri zihinsel fonksiyonun anormalitesi OFFICIAL en tr HP:0011472 rdfs:label Abnormality of small intestinal villus morphology İnce bağırsak anormal villüs morfolojisi OFFICIAL @@ -299,20 +361,24 @@ en tr HP:0011752 IAO:0000115 The presence of a neoplasm (tumour) in the neurohyp en tr HP:0011766 rdfs:label Abnormality of the parathyroid morphology Paratiroid morfolojisi anormalliği OFFICIAL en tr HP:0011814 IAO:0000115 An increased level of hypoxanthine in the urine İdrarda artmış hipoksantin seviyesi OFFICIAL en tr HP:0011814 rdfs:label Increased urinary hypoxanthine Artmış idrar hipoksantini OFFICIAL +en tr HP:0011891 IAO:0000115 Significant maternal haemorrhage/blood loss following deilvery of a child Doğumu takiben önemli maternal hemoraji/kan kaybı OFFICIAL en tr HP:0011892 IAO:0000115 A reduced concentration of vitamin K A reduced concentration of vitamin K NOT_TRANSLATED en tr HP:0011892 rdfs:label Low levels of vitamin K Vitamin K eksikliği CANDIDATE en tr HP:0011942 IAO:0000115 Increased concentration of SO3(2-), i.e., sulfite, in the urine İdrarda artmış SO3 (2-), yani sülfit konsantrasyonu OFFICIAL en tr HP:0011942 rdfs:label Increased urinary sulfite Artmış idrar sülfiti OFFICIAL +en tr HP:0011956 IAO:0000115 A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine Bağırsağın lenfoproliferatif anormalliği, nadiren çapı 0.5 cm'yi aşan çok sayıda görünür mukozal nodül ile karakterizedir Histolojik olarak, büyük germinal merkezli hiperplastik lenfoid folliküller, lamina propriada yüzeyel submukozada görülür. Folikül merkezlerinin hiperplazisi nedeniyle mukozal B hücreli folliküllerin genişlemesi söz konusudur; normal görünen bir manto bölgesi ile çevrili. Hastalık, mideyi, tüm ince bağırsakları ve kalın bağırsağı etkileyebilir CANDIDATE en tr HP:0011976 IAO:0000115 An increased concentration of catecholamine in the urine İdrarda artmış katekolamin konsantrasyonu OFFICIAL en tr HP:0011976 rdfs:label Elevated urinary catecholamines Yükselmiş idrar katekolaminleri OFFICIAL en tr HP:0011979 IAO:0000115 An increased concentration of dopamine in the urine İdrarda artmış dopamin konsantrasyonu OFFICIAL en tr HP:0011979 rdfs:label Elevated urinary dopamine Yükselmiş idrar dopamini OFFICIAL en tr HP:0011992 rdfs:label Abnormality of neutrophil morphology Nötrofil morfolojisinin anormalliği OFFICIAL en tr HP:0011999 IAO:0000115 A persecutory delusion of supposed hostility of others Başkalarının sözde düşmanlığının eziyet verici sanrısı OFFICIAL +en tr HP:0012060 IAO:0000115 A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed Avuç içine, ayak tabanına veya tırnak altına yerleşen bir kutanöz melanom türü (subungual melanoma). Akral desenli melanom, yavaş yavaş büyüyen, renksiz bir cilt yassı leke olarak başlar ve genellikle kahverengi, mavi-gri, siyah ve kırmızı tonları içeren bir renk karışımı değişken pigmentasyon ve tanıya göre çapı 6 mm'nin üzerinde ve çoğunlukla birkaç santimetre veya daha fazla bir boyut gösterir. Lezyonun yüzeyi başlangıçta pürüzsüzdür, ancak ilerleyen kısımda daha kalın ve düzensiz olabilir ve ülsere dönüşebilir veya kanayabilir CANDIDATE en tr HP:0012071 IAO:0000115 Any deviation from the normal concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine Karnitinin 3-hidroksil grubunun geriye dönüşlü esterleşmesi ile üretilen açilkarnitin anormalliği OFFICIAL en tr HP:0012071 rdfs:label Abnormal circulating acetylcarnitine concentration Asetilkarnitin metabolizması anormalliği OFFICIAL en tr HP:0012075 IAO:0000115 An abnormality of mental functioning affecting the personality and behavioural tendencies of an individual and characterized by a rigid and unhealthy pattern of thinking and behavior. The definition of a personal disorder implies that the abnormality is not the result of damage or insult to the brain or from another psychiatric disorder Kişinin kişilik ve davranış eğilimlerini etkileyen zihinsel işlev bozukluğunun bir anormalliği ve sağlıksız düşünce ve davranışlar ile karakterize edilmesi. Kişisel bir bozukluğun tanımı, anormalliklerin beynin hasar görmesi veya başka bir psikiyatrik bozukluğun oluşmasıyla veya dışarıdan etki sonucu olmaması anlamına gelmektedir CANDIDATE en tr HP:0012076 IAO:0000115 A personality disorder characterized by impulsive behavior and unpredictable and capricious mood. Affected individuals show a liability to outbursts of emotion and an incapacity to control the behavioural explosions Dürtüsel davranış ve öngörülemeyen ve kaprisli duygu durum ile karakterize bir kişilik bozukluğu. Etkilenmiş bireyler duygu patlama eğilimi ve davranışsal patlamaları kontrol edememe kapasitesi gösterir OFFICIAL +en tr HP:0012128 IAO:0000115 Death of cells in the basal ganglia Bazal gangliyada hücrelerin ölümleri OFFICIAL en tr HP:0012154 IAO:0000115 Inability to experience pleasure activities usually found enjoyable Genellikle eğlenceli bulunan aktivitelerde zevk alamama OFFICIAL en tr HP:0012171 IAO:0000115 Habitual clasping and squeezing of the hands Ellerin tekrarlayıcı şekilde tokalaşması ve sıkılması OFFICIAL en tr HP:0012172 IAO:0000115 Habitual repetitive movement of the body Tekrarlayıcı vücut hareketi OFFICIAL @@ -328,8 +394,12 @@ en tr HP:0012400 rdfs:label Abnormal aldolase level Anormal aldolaz seviyesi OFF en tr HP:0012434 rdfs:label Delayed social development Gecikmiş sosyal gelişim OFFICIAL en tr HP:0012443 rdfs:label Abnormality of brain morphology Beyin morfolojisinin anormalliği OFFICIAL en tr HP:0012452 IAO:0000115 A feeling of uneasiness and restlessness in the legs after going to bed (sometimes causing insomnia) Yatağa gittikten sonra bacaklarda huzursuzluk ve tedirginlik hissi (bezen insomniaya sebep olan) OFFICIAL +en tr HP:0012490 IAO:0000115 Inflammation of adipose tissue Adipoz doku inflamasyonu OFFICIAL en tr HP:0012503 rdfs:label Abnormality of the pituitary gland Hipofiz bezinin anormalliği OFFICIAL +en tr HP:0012517 IAO:0000115 An abnormally decreased amount of catalase level Anormal olarak azalmış miktarda katalaz aktivitesi CANDIDATE +en tr HP:0012517 rdfs:label Reduced catalase level Azalmış katalaz aktivitesi CANDIDATE en tr HP:0012519 IAO:0000115 Underdeveloped posterior communicating artery Tam gelişmemiş posterior kommunikan arter OFFICIAL +en tr HP:0012526 IAO:0000115 A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears Platelet alfa granüllerinin yokluğu. Bu tipik olarak plateletlerin giemsa boyalı kan sürüntüsünde gri gözükmesi ile sonuçlanır OFFICIAL en tr HP:0012544 IAO:0000115 An increased concentration of fructose 1,6-bisphosphate aldolase in the serum Serumda artmış fruktoz 1,6-bifosfat konsantrasyonu OFFICIAL en tr HP:0012544 rdfs:label Elevated aldolase level Artmış aldolaz seviyesi OFFICIAL en tr HP:0012545 IAO:0000115 An decreased concentration of fructose 1,6-bisphosphate aldolase in the serum Serumda azalmış fruktoz 1,6-bifosfat konsantrasyonu OFFICIAL @@ -338,16 +408,22 @@ en tr HP:0012671 IAO:0000115 Poverty of behavior and speech output, lack of init en tr HP:0012718 rdfs:label Morphological abnormality of the gastrointestinal tract Gastrointestinal kanalın morfolojik anormalliği OFFICIAL en tr HP:0012760 IAO:0000115 A reduced ability to participate in the back and forth flow of social interaction, which is normally characterized by an influence of the behavior of one person on the behavior of another person who is in conversation with the first Diğer bir kişi ile sohbette olan bir insanın diğer insanın davranışı üzerine olan etkisi ile karakterize olan sosyal etkileşimin sonrası ve öncesi akışında yer almada azalmış kabiliyet OFFICIAL en tr HP:0012760 rdfs:label Impaired social reciprocity Bozulmuş sosyal karşılıklı ilişki OFFICIAL +en tr HP:0012796 IAO:0000115 An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells Optik disk çukurluğunun çapının diskin toplam çapına oranındaki yükselme. Optik diskte, nöroretinal doku içermeyen, soluk bir merkezi (çukurluğu) olan turuncu-pembe bir çerçeve bulunur. Bu orandaki artış, sağlıklı nöroretinal hücrelerin miktarında bir düşüş olduğunu gösterebilir CANDIDATE en tr HP:0012844 IAO:0000115 A benign tumour originating from the outer root sheath of the hair follicle Saç folikülünün dış kök kılıfından köken alan selim bir tümör OFFICIAL en tr HP:0012845 IAO:0000115 Presence of a unitary trichilemmoma, a benign tumour originating from the outer root sheath of the hair follicle Kıl folikülünün dış kök kılıfından köken alan selim bir tümör, tek birimli trişilemmoma varlığı OFFICIAL en tr HP:0012846 IAO:0000115 Presence of multiple trichilemmomata, a benign tumour originating from the outer root sheath of the hair follicle Saç foliküllerinin diş kök kılıflarından kaynaklanan iyi huylu tümör olan çok sayıda trikilemmoma mevcut olması CANDIDATE +en tr HP:0020042 IAO:0000115 An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye Aynı gözün inferior rektus kasının ve superior oblik kasının eş zamanlı zayıflığı ile karakterize bir oküler hareket anormalliği OFFICIAL +en tr HP:0020063 rdfs:label Increased hemoglobin concentration Artmış hemoglobin konsantrasyonu OFFICIAL en tr HP:0020075 IAO:0000115 The presence of leuucine crystals in the urine The presence of leuucine crystals in the urine NOT_TRANSLATED en tr HP:0020090 IAO:0000115 Infection with live attenuated polio vaccine following vaccination. This is an extreemely rare event that may indicate immunocompromise Infection with live attenuated polio vaccine following vaccination. This is an extreemely rare event that may indicate immunocompromise NOT_TRANSLATED +en tr HP:0020102 IAO:0000115 An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnoea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnoea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing NOT_TRANSLATED en tr HP:0020127 IAO:0000115 A lump detected in the region that surrounds a joiny. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction A lump detected in the region that surrounds a joiny. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction NOT_TRANSLATED en tr HP:0020150 IAO:0000115 An increased amount of uromodulin (also known as Tamm Horsfall protein) in the urine An increased amount of uromodulin (also known as Tamm Horsfall protein) in the urine NOT_TRANSLATED en tr HP:0020150 rdfs:label Elevated urinary uromodulin Elevated urinary uromodulin NOT_TRANSLATED en tr HP:0020152 rdfs:label Distal joint laxity Distal joint laxity NOT_TRANSLATED en tr HP:0020169 IAO:0000115 An anomlous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy An anomlous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy NOT_TRANSLATED +en tr HP:0020175 IAO:0000115 A decreased amount of cholinesterase in the blood circulation A decreased amount of cholinesterase in the blood circulation NOT_TRANSLATED +en tr HP:0020175 rdfs:label Reduced cholinesterase level Reduced cholinesterase level NOT_TRANSLATED en tr HP:0020179 rdfs:label Abnormal haptoglobin level Abnormal haptoglobin level NOT_TRANSLATED en tr HP:0020182 rdfs:label Abnormal A-type atrial natriuretic peptide level Abnormal A-type atrial natriuretic peptide level NOT_TRANSLATED en tr HP:0020183 rdfs:label Increased circulating A-type natriuretic peptide level Increased circulating A-type natriuretic peptide level NOT_TRANSLATED @@ -356,6 +432,10 @@ en tr HP:0020188 IAO:0000115 Pachygyria with cortical thickness between 5 and 10 en tr HP:0020189 IAO:0000115 Pachygyria with cortical thickness above 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria Pachygyria with cortical thickness above 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria NOT_TRANSLATED en tr HP:0020191 IAO:0000115 Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes NOT_TRANSLATED en tr HP:0020192 IAO:0000115 Pachygyria with a mildly thickend cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age Pachygyria with a mildly thickend cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age NOT_TRANSLATED +en tr HP:0020201 IAO:0000115 Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs NOT_TRANSLATED +en tr HP:0020202 IAO:0000115 Any structural anomaly of the Z disc, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached Any structural anomaly of the Z disc, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached NOT_TRANSLATED +en tr HP:0020202 rdfs:label Abnormal Z disc morphology Abnormal Z disc morphology NOT_TRANSLATED +en tr HP:0020203 IAO:0000115 Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disc may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disc may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change NOT_TRANSLATED en tr HP:0020215 IAO:0000115 Seizures induced by thinking and decision-making.ncomment: Seizures induced by thinking and decision-making.ncomment: NOT_TRANSLATED en tr HP:0020222 IAO:0000115 A decreased concentration of homocystine in the blood A decreased concentration of homocystine in the blood NOT_TRANSLATED en tr HP:0025028 rdfs:label Abnormality of enteric nervous system morphology Enterik sinir sistemi morfolojisi anormalliği OFFICIAL @@ -363,6 +443,7 @@ en tr HP:0025029 rdfs:label Abnormality of enteric neuron morphology Enterik nö en tr HP:0025033 rdfs:label Abnormality of digestive system morphology Sindirim sistemi morfolojisi anormalliği OFFICIAL en tr HP:0025057 rdfs:label Abnormality of olfactory lobe morphology Olfaktör lob morfolojisi anormalliği OFFICIAL en tr HP:0025072 IAO:0000115 Increased amplitude of the U wave, defined as an amplitude grerater than 1-2mm or 25 percent of the height of the T wave Genliğin T dalga yüksekliğinden 1-2 mm'den veya yüzde 25'ten daha fazla olması olarak tanımlanan U dalgasının artmış genliği OFFICIAL +en tr HP:0025105 IAO:0000115 A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anaemic spots Düzensiz hipopigmente maküller ile karakterize konjenital bir cilt lezyonu, plaklar oluşturmak için birleşir ve özellikle göğüs bölgesinde görülür. Genellikle doğumda ya da yaşamın ilk günlerinde gelişir. Kadınlarda daha sık görülür. Tanı, lezyona ve çevreleyen deriye hafif sürtünme uygulayarak ve sağlıklı deride üretilen eritemin hipopigmente lezyonda görünmediğini kontrol ederek teyit edilir. Bu soluk makül, lezyon ve çevresi ovulduğunda daha belirgin hale gelir. Küçük anemik noktalar adasından oluşan nevüsün marjı tam tanımlanmıştır CANDIDATE en tr HP:0025112 rdfs:label Sound sensitivity Ses hassasiyeti OFFICIAL en tr HP:0025113 IAO:0000115 An adverse response (dislike) to sound no matter what volume the sound is, characterized by a strong negative reaction to soft sounds that can sometimes be further triggered by seeing the source of the offending sound Sesin hacmi ne olursa olsun, ses konusunda olumsuz bir yanıt (beğenilmeyen), bazen rahatsız edici sese ait kaynağın görülmesiyle daha tetiklenebilir yumuşak seslere karşı güçlü bir negatif tepki ile karakterize edilir CANDIDATE en tr HP:0025160 IAO:0000115 A temper tantrum is an emotional outburst usually triggered by a sense of frustration and manifested as whining and crying, screaming, kicking, hitting, and breath holding. Temper tantrums are normal in toddlers and young children and usually happen between the ages of one to three years. Temper tantrums may be considered abnormal if they occur at an unusually high frequency, are of unusual severity, or occur at an old age than usual Bir öfke nöbeti genellikle hayal kırıklığı duygusu tarafından tetiklenen ve sızlanma ve ağlama, çığlık atma, tekme, vurma ve nefes tutma olarak ortaya çıkan bir duygusal patlamadır. Öfke nöbetleri küçük bebekler ve küçük çocuklar için normaldir ve genellikle birinci ile üçüncü yaş arasında gerçekleşir. Öfke nöbetleri, alışılmadık derecede yüksek bir sıklıkta ortaya çıkarsa veya daha büyük yaşlarda ortaya çıkarsa, alışılmadık derecede ciddidir ve anormal olarak kabul edilebilir CANDIDATE @@ -371,6 +452,8 @@ en tr HP:0025162 IAO:0000115 Temper tantrums whose severity is more severe than en tr HP:0025163 rdfs:label Abnormality of optic chiasm morphology Optik çaprazlaşma morfolojisi anormalliği OFFICIAL en tr HP:0025171 IAO:0000115 A tumor of the central nervous system that has components of both neurocytic and glial areas, whereby usually the glial component of the tumour predominates. Rossette-forming glioneuronal tumors (RGNT) have biphasic cytoarchitecture with two elements; neurocytic rosettes resembling Homer-Wright rosettes, and astrocytic component resembling a pilocytic astrocytoma. RGNTs are low-grade tumors that lack histopathological signs of malignancy Merkezi sinir sisteminin hem nörositik hem de gliyal alanlarının bileşenleri olan ve genellikle tümörün glial komponentinin baskın olduğu bir tümör predominansı. Gül şeklindeki gliyonuronal tümörlerin (RGNT) iki elementli bifazik sit- mimarisi vardır; Homer Wright güllerini andıran nörositik güller ve pilositik astrositoma benzeyen astrositik bileşen. RGNT'ler histopatolojik olarak habis bulgusu olmayan düşük dereceli tümörlerdir CANDIDATE en tr HP:0025179 IAO:0000115 On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within whichnmargins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured Bilgisayarlı tomografi görüntülemesine uygulanan tanımlayıcı bir terim ve korunmuş bronşiyal ve vasküler belirteç ile akciğerde artmış sönümlenmenin olduğu puslu bir sahaya işaret eder CANDIDATE +en tr HP:0025186 IAO:0000115 Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing Üst göz kapağı kasılması ve dış veya iç pterigoid kasının kasılmasına bağlı unilateral pitozis. Beşinci kranyal sinir dalının levator kasını sağlayan üçüncü kranyal sinir dalına konjenital olarak hatalı bağlanması nedeniyle rastlandığı düşünülmektedir. Marcus Gunn çene göz kırpma sinkinezisinde, etkilenmiş göz kapağının yükselmesi ve hatta geri çekilmesi, çiğneme, emme, yanal mandibüla hareketi, gülümseme, sternokleidomastoyid kontraksiyon, çıkıntılı dilde, Valsalva manevrası ve hatta solunum yoluyla tetiklenir CANDIDATE +en tr HP:0025190 IAO:0000115 A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterised by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure Meydana gelen ve hızla bilateral dağılımlı ağların içine giren generalize tonik-klonik bir nöbet tipi CANDIDATE en tr HP:0025233 IAO:0000115 An inability to move the body at sleep onset or upon awakening from sleep lasting seconds to a few minutes Saniyelerden dakikalara kadar süren uyku başlangıcında veya uyanmayı takiben vücudu hareket ettirememe OFFICIAL en tr HP:0025234 IAO:0000115 An undesirable physical event or experience that occurs during entry into sleep, during sleep, or during arousal from sleep Uykuya dalma, uyku veya uyanma esnasında meydana gelen hoş olmayan fiziksel bir olay veya deneyim CANDIDATE en tr HP:0025235 IAO:0000115 A parasomnia that occurs in non-rapid eye movement (NREM) sleep. This refers to a disorder of arousal that occurs during slow-wave sleep (ie, NREM stage 3 sleep) Hızlı olmayan göz hareketleri (NREM) uykusunda meydana gelen bir parasomniya. Bu, yavaş dalgalı uyku (NREM evre 3 uyku) esnasında meydana gelen uyanma hastalığı olarak tanımlanır OFFICIAL @@ -384,6 +467,9 @@ en tr HP:0025269 IAO:0000115 A sudden episode of intense fear in a situation in en tr HP:0025319 rdfs:label Rubeosis iridis Rubeosis iridis OFFICIAL en tr HP:0025361 rdfs:label Abnormality of medullary pyramid morphology Medüller piramit anormalliği OFFICIAL en tr HP:0025372 IAO:0000115 Particularly loud snoring, snoring at high volume Özellikle sesli horlama, yüksek seste horlama OFFICIAL +en tr HP:0025389 IAO:0000115 High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities Yüksek çözünürlüklü bilgisayarlı tomografi (YÇBT) diğer modaliteler ile mümkün olmayan şekilde intersitisyel akciğer hastalıklarını karakterize eden bulguları ayırt edebilir OFFICIAL +en tr HP:0025390 IAO:0000115 On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh Pulmoner interstisyel yüksek çözünürlüklü bilgisayarlı tomografide retiküler patern bir ağı andıran birbiri içine geçmiş sayısız gölge ile karakterizedir OFFICIAL +en tr HP:0025392 IAO:0000115 A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter Nodüler bir kalıp, pulmoner yüksek çözünürlüklü bilgisayarlı tomografide, çapı 3 mm'den küçük olarak tanımlanmış miktonodüllerle çapları 2 mm'den 1 cm'ye kadar sayısız yuvarlaklaştırılan opasitenin varlığı ile karakterizedir CANDIDATE en tr HP:0025428 rdfs:label Bronchospasm Bronkospazm OFFICIAL en tr HP:0025434 rdfs:label Reduced hemolytic complement activity Azalmış hemolitik kompleman aktivitesi OFFICIAL en tr HP:0025437 rdfs:label Macrocephalic sperm head Makrosefalik sperm başı OFFICIAL @@ -392,11 +478,19 @@ en tr HP:0025483 rdfs:label Abnormal circulating thyroglobulin level Dolaşımda en tr HP:0025484 rdfs:label Increased circulating thyroglobulin level Dolaşımdaki artmış tiroglobulin seviyesi OFFICIAL en tr HP:0025485 IAO:0000115 Vaginal adenosis is defined by the presence of metaplastic cervical or endometrial epithelium within the vaginal wall, thought to be derived from persistent Müllerian (synonymous with paramesonephric) epithelium islets in postembryonic life Vajinal adenozis, vajinal duvar içinde postembriyonik hayatta devamını sürdüren Mülleriyen (paramezonefrik ile eş anlamlı) epitelyum adacıklarından kaynaklandığı düşünülen metaplastik servikal veya endometriyal epitelyum varlığı ile tanımlanır OFFICIAL en tr HP:0025487 rdfs:label Abnormality of bladder morphology Mesane morfolojisinin anormalliği OFFICIAL +en tr HP:0025531 IAO:0000115 The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body Her bir vücut yarısında iki farklı vücut rengi ile sonuçlanan deri renginde ani bir değişimi içeren Harlequin fenomeni OFFICIAL en tr HP:0025550 IAO:0000115 An increase above the normal concentration of ribitol in the blood Kanda normal ribitol konsantrasyonu üzerinde bir artış OFFICIAL +en tr HP:0025559 IAO:0000115 A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown Derin kortekste ışınsal olarak dağılan çomak şekilli ve nokta opasiteleri ile karakterize bir katarakt tipi. Bu lens opasiteleri bir tacı andıran görünümde nükleusu çevreler OFFICIAL +en tr HP:0025567 IAO:0000115 An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the centre of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months Retina pigment epitelyumunun (RPE) bir veya daha fazla odak lezyonunda ortanca olan ve genellikle yalnızca bir gözde sadece bulutlu görme ile bağlantısı olan nörosensor retinanın serumlu dekolmanı ile retinanın anomalisi tipik olarak hasta tarafından mikroskop ve metamorfopsinin bağlantılı olduğu görme alanının merkezinde karanlık bir nokta olarak görülür. Normal görüş, birkaç ay içinde sıklıkla kendiliğinden tekrar eder CANDIDATE +en tr HP:0025571 IAO:0000115 A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree Işıklandırılmış yılbaşı ağacı gibi parıldayan birden fazla muhteşem renkler gösteren bir katarakt tipi OFFICIAL en tr HP:0025624 IAO:0000115 An abnormally decreased proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-ngative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative An abnormally decreased proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-ngative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative NOT_TRANSLATED en tr HP:0025641 IAO:0000115 An abnormally increased concentration of glycolate in the blood circulation An abnormally increased concentration of glycolate in the blood circulation NOT_TRANSLATED en tr HP:0025654 rdfs:label Placenta acreta Placenta acreta NOT_TRANSLATED en tr HP:0025662 IAO:0000115 An anomlous structural finding of the fetal skeleton. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other terms from the skeletal hierarchy can also be used to describe fetal phenotypes An anomlous structural finding of the fetal skeleton. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other terms from the skeletal hierarchy can also be used to describe fetal phenotypes NOT_TRANSLATED +en tr HP:0025679 IAO:0000115 Inflammation of an intervertebral disc or disk space Inflammation of an intervertebral disc or disk space NOT_TRANSLATED +en tr HP:0025702 IAO:0000115 A type of Schizencephaly in which there is a trans-mantle column of abnormal grey matter but no evidence of a CSF-containing cleft on MR imaging A type of Schizencephaly in which there is a trans-mantle column of abnormal grey matter but no evidence of a CSF-containing cleft on MR imaging NOT_TRANSLATED +en tr HP:0025703 IAO:0000115 A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal grey matter that are opposed to each other A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal grey matter that are opposed to each other NOT_TRANSLATED +en tr HP:0025704 IAO:0000115 A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal grey matter A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal grey matter NOT_TRANSLATED en tr HP:0030008 IAO:0000115 Congenital absence of the cervix Konjenital serviks yokluğu OFFICIAL en tr HP:0030018 IAO:0000115 Dminished sexual desire in female Dişide azalmış cinsel istek OFFICIAL en tr HP:0030050 IAO:0000115 An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis Dayanılmaz uyku atakları ile aşırı gün içi uykusuzluk, katapleksi (ani bilateral kas tonusu kaybı), hipnagogik halüsinasyon ve uyku paralizi klasik tetradı ile karakterize anormal bir fenomen OFFICIAL @@ -410,15 +504,25 @@ en tr HP:0030222 IAO:0000115 Difficulty in recognizing objects by visual input i en tr HP:0030223 IAO:0000115 Perseveration can be defined as the contextually inappropriate and unintentional repetition of a response or behavioral unit. In other words, the observed repetitiveness does not meet the demands of the situation, is not the product of deliberation, and may even unfold despite counterintention. Perseveration can therefore be differentiated from goal-directed and intentional forms of repetition, such as linguistic redundancies designed to enhance communicative or poetic impact Perseverasyon, bir yanıtın veya davranışsal birimin bağlamsal olarak uygunsuz ve kasıtsız olarak tekrarlanması olarak tanımlanabilir. Diğer bir deyimle gözlemlenen tekrarlama, durumun taleplerini karşılamamaktadır, müzakerenin ürünü değildir ve muktedir olmalarına karşın açılabilir. Dolayısıyla, perseverasyon, hedefe dönük ve kasıtlı yineleme biçimlerinden, örneğin iletişimsel veya şiirsel etkiyi arttırmak için tasarlanan dilsel zıtlıklar gibi farklılaştırılabilir CANDIDATE en tr HP:0030223 rdfs:label Perseveration Perseverasyon OFFICIAL en tr HP:0030270 rdfs:label Elevated red cell adenosine deaminase level Artmış kırmızı hücre adenozin deaminaz aktivitesi CANDIDATE +en tr HP:0030272 rdfs:label Abnormal erythrocyte enzyme level Anormal eritrosit enzim aktivitesi CANDIDATE +en tr HP:0030299 rdfs:label Distal femoral metaphyseal abnormality Distal femoral metafizyal anormallik OFFICIAL +en tr HP:0030320 IAO:0000115 An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space İntervertebral disk boşluğunda bir artış olarak gözlemlenen, bitişik vertebral cisimler arasında vertikal mesafede bir artış OFFICIAL +en tr HP:0030354 rdfs:label Abnormal circulating interferon concentration Anormal serum interferon seviyesi CANDIDATE en tr HP:0030389 IAO:0000115 Any deivation from the normal concentration in the blood circulation of a thromboxane. Thromboxanes are derived from prostaglandin precursors in platelets, and stimulate aggregation of platelets and constriction of blood vessels Tromboksan (CHEBI:26995) metabolizmasının bir anomalisi. Tromboksanlar plateletlerde prostaglandin öncüllerinden köken alır ve platelet kümeleşmesini ve kan damarlarının konstriksiyonunu uyarır OFFICIAL en tr HP:0030407 IAO:0000115 A type of pineal parenchymal cell neoplasm that is a mature well-differentiated tumour (WHO grade I) Olgun iyi farklılaşmış bir tümör (WHO derece I) olan pineal parenkimal hücre neoplazmı tipi OFFICIAL en tr HP:0030408 IAO:0000115 Pineoblastoma is a rare primitive neuroectodermal tumour (PNET) arising in the pineal gland. Pineoblastomas are classified as a WHO grade IV tumour and comprise one-fourth to one-half of pineal parenchymal tumours. Pineoblastoma is a highly cellular tumor originating in the pineal gland and containing small, poorly differentiated cells Pineoblastom, pineal bezde ortaya çıkan nadir bir ilkel nöroektodermal tümördür (PNET). Pineoblastoma, DSÖ seviye IV tümör olarak sınıflandırılır ve pineal parankim tümörlerinin dörtte birinden ila yarısını oluşturur. Pineoblastom, pineal bezden köken alan az sayıda ve çok zayıf olarak farklılaşmış hücreler içeren oldukça hücresel bir tümördür CANDIDATE +en tr HP:0030497 IAO:0000115 Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels Retina sinir lif tabakasının yoğun olduğu bölgelerede beyaz şişmelerin meydana geldiği lokalize bölgeleri temsil eden, maküla dokusu üzerindeki yumuşak ve beyaz bir lekedir. Genellikle iç yapısı zikzaklar, tüylü bir kenara sahiptir, ters yöne doğru iyi çizilmiş bir formdadır ve yaklaşık 1 mm boyuta sahiptirler; vitreusa hafifçe yansıyıp bazen retinal damarları saptırırlar CANDIDATE en tr HP:0030508 rdfs:label Retinal cavernous hemangioma Retinal kavernöz hemanjiyom OFFICIAL en tr HP:0030515 IAO:0000115 Moderate reduction of the ability to see defined as visual acuity less than 6/18 (20/60 in US notation; 0.5 in decimal notation) but at least 6/60 (20/200 in US notation; 0.1 in decimal notation) Görme keskinliğinin 6/18'dan az (20/60 ABD'deki sistem; 0.5 ondalık sistem) fakat en az 6/60 (20/200 ABD'deki sistem; 0.1 ondalık sistem) olması şeklinde tanımlanan görme kabiliyetinin orta derecede azalması OFFICIAL +en tr HP:0030637 IAO:0000115 Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia Retinal fenotip koni fotoreseptör disfonksiyonu ve korunmuş çubuk sistemi ile karakterizedir. Anormallik tipik olarak geçicidir veya çok yavaş olarak ilerler ve bulgular azalmış merkezi görme, renk görme anormallikleri, nistagmus ve fotofobi içerebilir OFFICIAL +en tr HP:0030664 IAO:0000115 Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus Rektus karın kasının alt kısmının zayıflığı klinik olarak aşağıdaki gibi tespit edilir. Hasta ayağa kalktığında veya dinlendiği pozisyondan kafasını kaldırdığında göbek deliği başa doğru yer değiştirir. Bu, rektus karın kasının alt kısmının felce uğramasının sonucudur, böylece göbek deliğini yukarı doğru çeken üst lifler baskın olur CANDIDATE +en tr HP:0030680 IAO:0000115 Any structural anomaly of the heart and great vessels Kalp ve büyük damarlarının herhangi bir yapısal anomalisi CANDIDATE en tr HP:0030680 rdfs:label Abnormality of cardiovascular system morphology Kardiyovasküler sistem morfolojisi anormalliği OFFICIAL +en tr HP:0030715 IAO:0000115 A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis Bir bronşun proksimal segmentinin fokal obliterasyonu ile karakterize bir gelişimsel anomali. Bronşiyal patern stenoz kısmının distalinde tamamen normaldir OFFICIAL en tr HP:0030743 IAO:0000115 Persistance of a posterior remnant of the hyaloid artery located at the optic disc Optik diskte yerleşmiş hyaloid arterin posterior kalıntısının devamlılığı CANDIDATE en tr HP:0030744 IAO:0000115 A type of persistance of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract Fetal katarakta yol açabilen retrolental bir kitle ile ilişkili hyaloid vasküler sistemin bir tip devamlılığı OFFICIAL en tr HP:0030765 IAO:0000115 Episodes of intense fear, screaming and flailing although affected individuals are still asleep Etkilenmiş bireyler uykuda olmasına rağmen yoğun korku, çığlık ve pataklanma epizotları OFFICIAL +en tr HP:0030782 rdfs:label Abnormal circulating interleukin concentration Anormal serum interlökin seviyesi CANDIDATE en tr HP:0030783 IAO:0000115 An increased concentration of interleukin-6 in the blood circulation Dolaşımda artmış interlökin 6 konsantrasyonu CANDIDATE en tr HP:0030858 IAO:0000115 A recurrent pattern of behavior that is characeterized by the failure to resist an impulse, drive, or temptation to perform an act that is harmful to the person or to others. The repetitive engagement in these behaviors ultimately interferes with functioning in other domains Kişiye veya başkalarına zarar veren bir eylemi gerçekleştirmek için bir dürtü, itki veya ayartmaya başarısızlık tarafından karakterize edilen davranışın tekrarlayan kalıbı. Bu davranışlara tekrar tekrar devam etme, diğer alanlardaki işlevi yerine getirmeyi en sonunda engellemektedir CANDIDATE en tr HP:0030935 rdfs:label Abnormality of intestinal smooth muscle morphology Bağırsak düz kas morfolojisinin anormalliği OFFICIAL @@ -434,9 +538,12 @@ en tr HP:0031040 rdfs:label Late spermatogenesis maturation arrest Geç spermato en tr HP:0031042 IAO:0000115 Inflammed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry Çilek veya ahududunu andırdığı söylenen hiperplastik (genişlemiş) mantarımsı papillalı inflame olmuş dil OFFICIAL en tr HP:0031085 IAO:0000115 A reduced concentration of prealbumin in the blood. Prealbumin, also known as transthyretin, has a half-life in plasma of about 2 days, much shorter than that of albumin. Prealbumin is therefore more sensitive to changes in protein-energy status than albumin, and its concentration closely reflects recent dietary intake rather than overall nutritional status Kandaki prealbümin konsantrasyonu azaltıldı. Prealbümin, ayrıca transtiretin olarak da bilinir, plazmada yaklaşık 2 gün yarı ömre sahiptir, bu süre albümininkinden çok daha kısadır. Prealbümin bu nedenle albüminden protein-enerji durumlarında değişiklikler için daha fazla hassastır, ve konsantrasyonu, tüm beslenme durumundan ziyade son diyet yemeği alımını yakından yansıtmaktadır CANDIDATE en tr HP:0031085 rdfs:label Decreased prealbumin level Azalmış prealbümin seviyesi OFFICIAL +en tr HP:0031100 IAO:0000115 A reduced concentration of inhibin B in the blood Kanda azalmış inhibin B konsantrasyonu OFFICIAL +en tr HP:0031100 rdfs:label Decreased inhibin B level Azalmış inhibin B seviyesi OFFICIAL en tr HP:0031102 rdfs:label Increased antimullerian hormone level Artmış antimülleriyen hormon düzeyi OFFICIAL en tr HP:0031103 rdfs:label Decreased antimullerian hormone level Azalmış antimüllerian hormon seviyesi OFFICIAL en tr HP:0031138 rdfs:label Abnormal B-type natriuretic peptide level Anormal B tipi natriüretik peptit seviyesi OFFICIAL +en tr HP:0031203 IAO:0000115 A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses Lipid damlacıkları içeren bir hücresiz ürinerin türü, oval yağlı vücutlar veya kolesterol kristalleri, ve sıklıkla bu öğelerin serbest biçimleri ile ilişkilidir. Onların kimliğini saptama polarize ışık mikroskopisinin kullanılmasını gerektirebilir, Malta haçı olarak döküm kalıba benzeyenin içine ki yağlı parçacıkları gömülenlerin altına CANDIDATE en tr HP:0031213 rdfs:label Elevated circulating 17-hydroxyprogesterone Dolaşımda yükselmiş 17-hidroksiprogesteron OFFICIAL en tr HP:0031339 rdfs:label Abnormal cadiomyocyte dystrophin staining Anormal kardiyomyosit distrofin boyanması OFFICIAL en tr HP:0031354 IAO:0000115 Difficulty initiating sleep, that is, increased sleep onset latency Uyku başlangıcının artmış gecikmesi olan uyku başlaması zorluğu OFFICIAL @@ -466,7 +573,10 @@ en tr HP:0031545 IAO:0000115 Reduced level of T cell receptor excision circle (T en tr HP:0031588 IAO:0000115 A conspicuously unhappy disposition characterized by negative assumptions, self-defeating talk, fear of failure, and negative ruminations about past events Negatif çıkarımlar, kendi kendini baltalayıcı konuşma, başarısızlık korkusu ve geçmiş olaylar hakkında negatif derin düşünme ile karakterize çarpıcı bir mutsuz mizac OFFICIAL en tr HP:0031589 IAO:0000115 Frequent thinking about or preoccupation with killing oneself Kendini öldürme ile meşgale veya sıklıkla hakkında düşünme CANDIDATE en tr HP:0031602 IAO:0000115 An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary nbeating Siliyer vuruş ile solunum epitelini döşeyen müköz tabakayı taşıma fonksiyonu yapan mukosiliyer transport sisteminde bir anormali OFFICIAL +en tr HP:0031606 IAO:0000115 Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels Retinadaki yumuşak beyaz yama, retinal sinir lifi tabakasının yoğun beyaz şişmelerinin lokalize bölgelerini temsil eder. Çoğunlukla zikzak dahili yapıya sahiptirler, tüylü bir kenar ancak bunun dışında iyi betimlenmiş bir biçim ve yaklaşık olarak 1 mm boyut; vitreusa içine hafifçe yansırlar ve bazen retinal damarları saptırırlar CANDIDATE +en tr HP:0031671 IAO:0000115 Typical atrial flutter is an organised atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative Tipik bir atriyal çarpıntı organize bir atriyal taşikardidir. Ayrıca, sağ atriyumla sınırlanmış makro-aday taşikardi olarak da tanımlanabilir. Bu aritmi, hastanın önceki tedavisine veya ablasyonuna, konjenital kalp hastalığına vb. bağlı olarak dalgalanma gösterebilir; ancak, 200-260 ms dönem uzunluğuna sahiptir. Ventriküler hız cevabı atriyal çarpıntı sırasında genellikle 2:1 veya 3:1 olan atriyoventriküler düğüm iletkenleri ile sınırlandırılacaktır. Tipik (saat yönünün tersine) çarpıntı, ortak çarpıntı modeliyle ilişkilidir: İnferior lead II, III ve aVF'de dominant negatif sapmalar gösteren düzenli sürekli bir dalgalanma, çoğunlukla bir testere dişi modeli olarak tanımlanır ve düz atriyal sapmalar I ve aVL'ye sebep olur. V1'deki atriyal defleksiyonlar pozitif, bifazik veya negatif olabilir CANDIDATE en tr HP:0031799 IAO:0000115 Reduced criculating level of apolipoprotein AI, which is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease Plazmada yüksek yoğunluklu lipoproteinlerin (HDL) ana bileşeni olan apolipoprotein AI'in azalmış dolaşım seviyesi. Bu gendeki kusurlar Tangier hastalığı dahil HDL eksiklikleri ile ilişkilidir OFFICIAL +en tr HP:0031805 IAO:0000115 A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal haemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina Nöroduyusal retina içinde meydana gelen bir fundus hemorajisi alt tipi. İntraretinal hemorajiler retina içindeki derinliklerine bağlı olarak 'nokta' veya 'leke' şekilli veya alev şekilli olabilir OFFICIAL en tr HP:0031814 IAO:0000115 Repetition of one's own words or phrases Birinin kendi kelimelerini veya ifadelerini tekrarı OFFICIAL en tr HP:0031844 IAO:0000115 A sense of intense joy or happiness that is beyond what would be expected under the given circumstances Belli şartlar altında beklenenden daha ötede bir yoğun haz veya mutluluk hissi OFFICIAL en tr HP:0031849 IAO:0000115 A reversal of sleeping habits with a tendency to sleep during the day and to be awake at night Gün içinde uyuma ve gece uyanık olma eğilimi ile uyku alışkanlıklarının tersine dönmesi OFFICIAL @@ -479,20 +589,36 @@ en tr HP:0031877 IAO:0000115 An abnormally increased concentration of hepcidin i en tr HP:0031877 rdfs:label Elevated hepcidin level Artmış hepsidin seviyesi OFFICIAL en tr HP:0031906 rdfs:label Decreased total hemolytic complement activity Azalmış total hemolitik komplement aktivitesi OFFICIAL en tr HP:0031908 IAO:0000115 Abnormally small sized handwriting defined formally as an impairment of a fine motor skill manifesting mainly as a progressive or stable reduction in amplitude during a writing task Yazma görevi esnasında genlikte ilerleyici veya sabit azalma olarak ortaya çıkan eskiden ince motor yeteneğinin bir bozukluğu olarak tanımlanan anormal olarak küçük boyutlu el yazısı OFFICIAL +en tr HP:0031931 IAO:0000115 Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behaviour and its occurrence may be favoured by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation Oküler fluter tekrarlayan, düzensiz, salınımlar arası aralık olmadan olan yatay salınımların istemsiz patlamalarından oluşan anormal bir göz hareketidir. Genellikle normal okülomotor davranış üzerine binen ve meydana gelişi göz kırpması, normal salınımların tetiklenmesi veya optokinetik uyarı gibi çeşitli olaylar tarafından mümkün olabilir OFFICIAL en tr HP:0031937 IAO:0000115 Extreme rapidity of speech Konuşmanın aşırı hızlılığı OFFICIAL en tr HP:0031956 IAO:0000115 An abnormally high concentration in the circulation of aspartate aminotransferase (AST) Dolaşımda anormal şekilde yüksek aspartat aminotrasnferaz (AST) konsantrasyonu OFFICIAL +en tr HP:0031973 IAO:0000115 An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc Optik sinir baş çukurunun yüksekliğinin disk yüksekliğine oranında anormal bir artış OFFICIAL +en tr HP:0031974 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.6 (The normal cup-to-disc ratio is 0.3) Optik sinir baş çukur yüksekliğinin disk yüksekliğine oranı 0.6'dır (normal çukur disk oranı 0.3'tür) CANDIDATE +en tr HP:0031975 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.7 (The normal cup-to-disc ratio is 0.3) Optik sinir baş çukur yüksekliğinin disk yüksekliğine oranı 0.7'dir (normal çukur disk oranı 0.3'tür) OFFICIAL +en tr HP:0031976 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3) Optik sinir baş çukur yüksekliğinin disk yüksekliğine oranı 0.8'dir (normal çukur disk oranı 0.3'tür) OFFICIAL +en tr HP:0031977 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.9 (The normal cup-to-disc ratio is 0.3) Optik sinir baş çukur yüksekliğinin disk yüksekliğine oranı 0.9'dir (normal çukur disk oranı 0.3'tür) OFFICIAL +en tr HP:0031978 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 1.0 (The normal cup-to-disc ratio is 0.3) Optik sinir baş çukur yüksekliğinin disk yüksekliğine oranı 1.0'dir (normal çukur disk oranı 0.3'tür) OFFICIAL en tr HP:0031986 IAO:0000115 Irregular, small-amplitude myoclonic movements of the hands and/or fingers on keeping outstretched posture (jerky postural tremor). Polyminimyoclonus is stimulus-sensitive and accentuated during voluntary movements. A cortical origin can be demonstrated by back-averaging techniques, and somatosensory evoked potentials (SSEPs) are sometimes giant Düzensiz, küçük amplitüdlü myoklonik gerilmiş postürü koruyan (sarsıntılı postüral tremor) el ve/veya ayak hareketi. Poliminimyoklonus uyarı duyarlıdır ve istemli hareketler esnasında vurgulanır. Kortikal köken geri ortalama alma teknikleri ile gösterilebilir ve somatosensor uyarılı ptansiyel (SSEP'ler) bazen devdir OFFICIAL en tr HP:0032025 IAO:0000115 A reduced concentration of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs Ana olarak hepatositler tarafından sentezlenen ve kan akımının içine salgılanan 52-kDa bir glikoprotein olan alfa-1 antitripsininin azalmış dolaşım konsantrasyonu. Alfa-1 antitripsin akciğerlerde proteaz-antiproteaz homeostazini sürdürmede kritik olan bir serin-proteinaz inhibitörüdür OFFICIAL en tr HP:0032025 rdfs:label Reduced serum alpha-1-antitrypsin Azalmış serum alfa-1-antitripsini OFFICIAL +en tr HP:0032027 IAO:0000115 Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size Retinada iyi tanımlı/ayırt edilebilen, bireysel ve çoğunlukla tek tip boyutta olan sarı, beyaz veya grimsi lezyonlar OFFICIAL +en tr HP:0032028 IAO:0000115 Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size Makülada iyi tanımlı/ayırt edilebilen, bireysel ve çoğunlukla tek tip boyutta olan sarı, beyaz veya grimsi lezyonlar OFFICIAL +en tr HP:0032030 IAO:0000115 Laxity of the tendon stabilising the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed Tarsal plağın lateral tarafını zigomatik kemiğe stabilize eden tendonun gevşekliği. Bu lateral kantusun yuvarlak görünümü ile sonuçlanabilir. Ayrıca, göz kapağı mediyal olarak çekildiğinde kantal açının 2 mm'den fazla hareketi gözlemlenebilir OFFICIAL +en tr HP:0032031 IAO:0000115 Laxity of the tendon stabilising the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally Tarsal plağın mediyal tarafını anterior ve posterior lakrimal kabartılara stabilize eden tendon gevşekliği. Bu, göz kapağı lateral olarak çekildiğinde punktumun 2 mm'den fazla hareketine yol açabilir OFFICIAL +en tr HP:0032033 IAO:0000115 Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilising structures (e.g. lower lid retractors) or tarsal atrophy are often present Esas olarak dikey düzlemde doku gevşemesi ile ilişkili anormal olarak gevşek göz kapağı. Dikey göz kapağı çekmesi ile ispat edilebilir. Dikey stabilize edici yapılar (örneğin alt göz kapağı retraktörleri) veya tarsal atrofi sıklıkla mevcuttur OFFICIAL en tr HP:0032037 IAO:0000115 Mild reduction of the ability to see defined as visual acuity less than 6/12 (20/40 in US notation; 0.5 in decimal notation) but at least 6/18 (20/63 in US notation; 0.32 in decimal notation) Görme keskinliğinin 6/12'dan az (20/40 ABD'deki sistem; 0.5 ondalık sistem) fakat en az 6/18 (20/63 ABD'deki sistem; 0.32 ondalık sistem) olması şeklinde tanımlanan görme kabiliyetinin hafif azalması OFFICIAL en tr HP:0032044 IAO:0000115 A reduction in the ability to maintain sustained attention characterized by reduced alertness Azalmış tetiklik ile karakterize sürdürülebilir dikkati devam ettirme kabiliyetinde bir azalma CANDIDATE +en tr HP:0032055 IAO:0000115 A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organisation (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis) Hipokampal sklerozisli hastalarda (HS, sinonim Ammon'un boynuz sklerozu) mimari organizasyonda (kortikal dislaminasyon) veya hücresel mimari bileşimde (Katman 5'in dışında hipertrofik nöronlar) değişimler ile karakterize bir fokal kortikal displazi tip III alt tipi CANDIDATE en tr HP:0032119 rdfs:label Narrow angle glaucoma Dar açılı glokom OFFICIAL +en tr HP:0032170 IAO:0000115 An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterised by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella Varisella zoster virüsü (VZV) enfeksiyonunun olağan dışı ciddi bir formu. Çoğu vakada, özellikle çocuklarda varisella deri lezyonları, düşük dereceli ateş ve halsizlik ile karakterize çok hafif bir enfeksiyondur. Ciddi enfeksiyon VZV pnömonisi, hepatit, menenjit ve yaygın varisella dahil bulgular ile karakterizedir OFFICIAL +en tr HP:0032202 IAO:0000115 Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognised: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC Vulvar intraepitelyal neoplazi (VIN) geniş olarak vulvar skuamöz hücre karsinomunun (VSHK) prekursör lezyonu olarak kabul edilmektedir. VSHK ya human papilloma virüsü (HPV) ilişkili yolak aracılığı ile ya da daha sık olarak HPV'den bağımsız bir mekanizma aracılığıyla liken sklerozus (LS) gibi sıklıkla kronik inflamatuvar durumlara bağlıdır. Uygun olarak, iki ayrı VIN alt tipi tanımlanmıştır: HPV-ilişkili yüksek dereeli skuamöz intraepitelyal lezyon/olağan VIN (HSIL/uVIN) ve HPV-ilişkili olmayan farklılaşmış VIN (dVIN). HSIL klinik olarak çoklu, siğil benzeri görünümü ve histolojide dikkat çekici sitolojik ve yapısal atipi ile tanımlanır. Farklılaşmış VIN, diğer yandan sıklıkla hastalıklı lezyonlar üretir ve histolojide herkesin bildiği gibi neoplastik olmayan epitelyal hastalığı (NNED), özellikle LS'yi taklit eder. Sonuç olarak dVIN, VSHK'nın çoğunluk prekürsör lezyonu olmasına rağmen invazif maliganansinin tanısından önce nadiren tanımlanır OFFICIAL en tr HP:0032223 IAO:0000115 Any of the various types of human blood whose antigen characteristics determine compatibility in transfusion. While the ABO and Rhesus sytems are the most well known, there are in total about 300 different blood type antigens distributed across 34 different blood type systems Antijen özellikleri transfüzyonda uyumluluğu belirleyen insan kanının çeşitli herhangi tipi. ABO ve Rhesus sistemleri en iyi bilinenler iken 26 farklı kan tipi sistemine dağılmış toplamda yaklaşık 300 farklı kan tipi antijeni vardır CANDIDATE en tr HP:0032227 IAO:0000115 A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elswehere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola Sarı, yumuşak, göbekli küçük papüller olarak beliren tek veya çoklu lezyonlar ile karakterize sebase bezlerin hipertrofisini içeren sık, selim bir deri durumu. Lezyonlar sık olarak merkezi yüz (özellikle, burun, yanaklar ve alın) üzerinde yerleşmiştir fakat göğüs, ağız, skrotum, sünnet derisi, penil şaft, vulva ve areola dahil başka yerlerde de meydana gelebilir OFFICIAL en tr HP:0032237 IAO:0000115 An abnormally increased number of myelocytes in the peripheral blood circulation. Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and seconday granules, and a nucleus:cytoplasm ratio of 2:1 Periferik kan dolaşımında anormal olarak artmış myelosit sayısı. Myelositler 12-18 mikrometre boyutlu, nükleoli olmadan yuvarlak veya oval nükleus, birincil ve ikincil granüllü mavimsi pembe boyanan sitoplazma ve çekirdek:sitoplazma oranı 2:1 olan olgunlaşmamış nötrofillerdir OFFICIAL en tr HP:0032238 IAO:0000115 An abnormally increased number of metamyelocytes in the peripheral blood circulation. Metamyelocytes are immature neutrophils with a size of 10-18 micrometers, an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm with seconday granules, and a nucleus:cytoplasm ratio of 1.5:1 Periferik kan dolaşımında anormal olarak artmış metamyelosit sayısı. Metamyelositler 10-18 mikrometre boyutlu, girintili veya böbrek şekilli nükleus, ikincil granüllü pembemsi mavi boyanan sitoplazma ve çekirdek:sitoplazma oranı 1.5:1 olan olgunlaşmamış nötrofillerdir OFFICIAL en tr HP:0032239 IAO:0000115 An abnormally increased number of band cells in the peripheral blood circulation. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small seconday granules, and a nucleus:cytoplasm ratio of 1:2 Periferik kan dolaşımında anormal olarak artmış bant hücreleri. Bant hücreleri 10-18 mikrometre boyutlu, nükleolisiz atnalı şekilli çekirdek, çok küçük ikincil granüllü açık pembe boyanan sitoplazma ve çekirdek:sitoplazma oranı 1:2 olan olgunlaşmamış nötrofillerdir OFFICIAL en tr HP:0032248 IAO:0000115 Persistence of virus in the blood circulation longer than would be normal in an immunocompentent host Bağaşıklığı tam bir konakta kan dolaşımında normalden daha uzun virüs sürekliliği OFFICIAL +en tr HP:0032272 rdfs:label Elevated urinary N-acetylaspartic acid level Artmış idrar N-asetilaspartik asit seviyesi OFFICIAL en tr HP:0032273 IAO:0000115 An abnormally increased concentration of N-Acetylaspartic acid in the blood circulation Kan dolaşımında anormal olarak artmış N-asetilaspartik asit konsantrasyonu OFFICIAL en tr HP:0032278 IAO:0000115 An increase in the level of 2-hydroxyglutaric acid in the urine İdrarda 2-hidroksiglutarik asit seviyelerinde bir artış OFFICIAL en tr HP:0032301 IAO:0000115 Warts affecting the skin in the genital area (peniile shaft, scrotum, vagina, or labia majora). Warts can be small, beginning as a pinhead-size swelling that may become larger and take on a pdenuculated appearance. Warts can spread and coalesce into large masses in the genital or anal area. Their color is variable but tends to be skin colored or darker, and they may occasionally bleed. Warts may cause itching, redness, or discomfort. An outbreak of genital warts may also cause psychological distress Warts affecting the skin in the genital area (peniile shaft, scrotum, vagina, or labia majora). Warts can be small, beginning as a pinhead-size swelling that may become larger and take on a pdenuculated appearance. Warts can spread and coalesce into large masses in the genital or anal area. Their color is variable but tends to be skin colored or darker, and they may occasionally bleed. Warts may cause itching, redness, or discomfort. An outbreak of genital warts may also cause psychological distress NOT_TRANSLATED @@ -506,6 +632,7 @@ en tr HP:0032352 IAO:0000115 Increased level of methionine in urine Increased le en tr HP:0032365 rdfs:label Exacerbated by aspirin ingestion Exacerbated by aspirin ingestion NOT_TRANSLATED en tr HP:0032378 IAO:0000115 Hypersensitivity that is observed within 1 hr of exposures. A variety of adverse reactions can occur within minutes to hours of exposure to a drug. Some can be related to the pharmacological action of the drug (WHO Adverse Reaction Terminology type A for augmented) and usually have a low mortality. Others are not readily predictable based on the structure and pharmacological action of the drug and have a relatively high mortality risk (Type B for bizarre). The most serious form of immediate onset drug hypersensitivity reaction, anaphylaxis. Other reactions including itching,dizziness/light-headedness, nausea, chest discomfort but without any objective skin features, physical signs or physiological compromise. Skin only reactions include generalized erythema, urticaria or angioedema without any sentinel features (see below) of other organ involvement Hypersensitivity that is observed within 1 hr of exposures. A variety of adverse reactions can occur within minutes to hours of exposure to a drug. Some can be related to the pharmacological action of the drug (WHO Adverse Reaction Terminology type A for augmented) and usually have a low mortality. Others are not readily predictable based on the structure and pharmacological action of the drug and have a relatively high mortality risk (Type B for bizarre). The most serious form of immediate onset drug hypersensitivity reaction, anaphylaxis. Other reactions including itching,dizziness/light-headedness, nausea, chest discomfort but without any objective skin features, physical signs or physiological compromise. Skin only reactions include generalized erythema, urticaria or angioedema without any sentinel features (see below) of other organ involvement NOT_TRANSLATED en tr HP:0032422 IAO:0000115 Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2B particle is defined as an HDL particle with a size of 9.7-12 nm Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2B particle is defined as an HDL particle with a size of 9.7-12 nm NOT_TRANSLATED +en tr HP:0032456 IAO:0000115 A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and grey matter A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and grey matter NOT_TRANSLATED en tr HP:0032476 rdfs:label Abnormal circulating vitamin B6 level Abnormal circulating vitamin B6 level NOT_TRANSLATED en tr HP:0032477 rdfs:label Elevated circulating vitamin B6 level Elevated circulating vitamin B6 level NOT_TRANSLATED en tr HP:0032501 rdfs:label Exacerbated by contraceptive medication Exacerbated by contraceptive medication NOT_TRANSLATED @@ -515,6 +642,7 @@ en tr HP:0032514 IAO:0000115 A congenital developmental anomaly characterized by en tr HP:0032514 rdfs:label Duplicated lacrimal punctum Duplicated lacrimal punctum NOT_TRANSLATED en tr HP:0032516 IAO:0000115 Infection that extends deeply into the dermins by dermatophytes, fungi that typically cause different types of superficial infection (tinea) or skin, hair, or nails Infection that extends deeply into the dermins by dermatophytes, fungi that typically cause different types of superficial infection (tinea) or skin, hair, or nails NOT_TRANSLATED en tr HP:0032525 rdfs:label Aggravated by acetylcholinesterase inhibitor Aggravated by acetylcholinesterase inhibitor NOT_TRANSLATED +en tr HP:0032530 rdfs:label Decreased succinic semialdehyde dehydrogenase level Decreased succinic semialdehyde dehydrogenase level NOT_TRANSLATED en tr HP:0032538 IAO:0000115 A groove or crease on the shins (pretibial, i.e., over the shin bone). Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm in length and lenghten as the limb grows. They appear as an elongated dimple because of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple or crease grows in proportion to the growth of the leg A groove or crease on the shins (pretibial, i.e., over the shin bone). Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm in length and lenghten as the limb grows. They appear as an elongated dimple because of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple or crease grows in proportion to the growth of the leg NOT_TRANSLATED en tr HP:0032641 IAO:0000115 Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present NOT_TRANSLATED en tr HP:0032642 IAO:0000115 An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation NOT_TRANSLATED @@ -522,15 +650,25 @@ en tr HP:0032643 IAO:0000115 Interstital aggregates of histiciocytes, occasional en tr HP:0032649 IAO:0000115 A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occurunder the metatarsal heads and thehead of the plantar-flexed talus A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occurunder the metatarsal heads and thehead of the plantar-flexed talus NOT_TRANSLATED en tr HP:0032660 IAO:0000115 A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between.ncomment: nsource: nseeAlso: Tonic-clonic status epilepticus A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between.ncomment: nsource: nseeAlso: Tonic-clonic status epilepticus NOT_TRANSLATED en tr HP:0032674 IAO:0000115 A cutaneous wound is a defined as a disruption of normal anatomic structure and function of the skin that occured owing to an injury of the skin. Wound healing is a dynamic, interactive processinvolving soluble mediators, blood cells, extracellularmatrix, and parenchymal cells. Wound healing has three phases: inflammation, tissue formation, and tissue remodeling, that overlap in time A cutaneous wound is a defined as a disruption of normal anatomic structure and function of the skin that occured owing to an injury of the skin. Wound healing is a dynamic, interactive processinvolving soluble mediators, blood cells, extracellularmatrix, and parenchymal cells. Wound healing has three phases: inflammation, tissue formation, and tissue remodeling, that overlap in time NOT_TRANSLATED +en tr HP:0032679 IAO:0000115 A type of focal-onset seizure characterized by non-motor signs or symptoms (or behaviour arrest) as its initial semiological manifestation A type of focal-onset seizure characterized by non-motor signs or symptoms (or behaviour arrest) as its initial semiological manifestation NOT_TRANSLATED +en tr HP:0032736 IAO:0000115 Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behaviour Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behaviour NOT_TRANSLATED +en tr HP:0032755 IAO:0000115 A focal autonomic seizure characterised by impaired awareness at some point within the seizure A focal autonomic seizure characterised by impaired awareness at some point within the seizure NOT_TRANSLATED en tr HP:0032764 IAO:0000115 A type of focal autonomic seizure characterised by penile erection as the intial semiological feature A type of focal autonomic seizure characterised by penile erection as the intial semiological feature NOT_TRANSLATED +en tr HP:0032789 IAO:0000115 A focal behavior arrest seizure characterised by retained awareness throughout the seizure A focal behavior arrest seizure characterised by retained awareness throughout the seizure NOT_TRANSLATED +en tr HP:0032790 IAO:0000115 A focal behavior arrest seizure characterised by impaired awareness at some point during the seizure A focal behavior arrest seizure characterised by impaired awareness at some point during the seizure NOT_TRANSLATED +en tr HP:0032792 IAO:0000115 A tonic seizure is a type of motor seizure characterised by unilateral or bilateral limb stiffening or elevation, often with neck stiffening A tonic seizure is a type of motor seizure characterised by unilateral or bilateral limb stiffening or elevation, often with neck stiffening NOT_TRANSLATED +en tr HP:0032794 IAO:0000115 A myoclonic seizure is a type of motor seizure characterised by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus A myoclonic seizure is a type of motor seizure characterised by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus NOT_TRANSLATED +en tr HP:0032795 IAO:0000115 A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterised by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterised by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus NOT_TRANSLATED en tr HP:0032816 IAO:0000115 Neonatal multifocal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at multiple sites Neonatal multifocal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at multiple sites NOT_TRANSLATED en tr HP:0032829 IAO:0000115 Neonatal electro-clinical motor seizure with automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, and in association with other features Neonatal electro-clinical motor seizure with automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, and in association with other features NOT_TRANSLATED en tr HP:0032832 IAO:0000115 Neonatal bilateral asymmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body asymmetrically Neonatal bilateral asymmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body asymmetrically NOT_TRANSLATED en tr HP:0032834 IAO:0000115 Neonatal seizure with bilateral asymmetric automatisms is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at one side of the body Neonatal seizure with bilateral asymmetric automatisms is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at one side of the body NOT_TRANSLATED en tr HP:0032835 IAO:0000115 Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at both sides of the body symmetrically Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at both sides of the body symmetrically NOT_TRANSLATED en tr HP:0032836 IAO:0000115 Neonatal bilateral symmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body symmetrically Neonatal bilateral symmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body symmetrically NOT_TRANSLATED +en tr HP:0032851 IAO:0000115 A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis NOT_TRANSLATED en tr HP:0032858 IAO:0000115 A focal motor seizure with negative myoclonus characterized by impairement of awareness at some point during the seizure A focal motor seizure with negative myoclonus characterized by impairement of awareness at some point during the seizure NOT_TRANSLATED en tr HP:0032879 IAO:0000115 A focal cognitive seizure with dissociation at the onset of the seizure impairment of awareness at at some point during the seizure A focal cognitive seizure with dissociation at the onset of the seizure impairment of awareness at at some point during the seizure NOT_TRANSLATED +en tr HP:0032928 IAO:0000115 Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large calibre myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large calibre myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases NOT_TRANSLATED en tr HP:0032936 IAO:0000115 Unintentional reexperiencing a traumatic event comprising symptoms are usually sensory impressions and emotional responses from the trauma that appear to lack a time perspective and a context Unintentional reexperiencing a traumatic event comprising symptoms are usually sensory impressions and emotional responses from the trauma that appear to lack a time perspective and a context NOT_TRANSLATED en tr HP:0032937 IAO:0000115 After suffering psychological trauma, people can repeatedly experience sensory-perceptual impressions of the event, which intrude involuntarily into consciousness. These intrusive memories typically take the form of visual images (e.g., pictures in the mind's eye), but can also include sounds, smells, tastes and bodily sensations, and come with a range of negative emotions associated with the hotspots in the trauma memory After suffering psychological trauma, people can repeatedly experience sensory-perceptual impressions of the event, which intrude involuntarily into consciousness. These intrusive memories typically take the form of visual images (e.g., pictures in the mind's eye), but can also include sounds, smells, tastes and bodily sensations, and come with a range of negative emotions associated with the hotspots in the trauma memory NOT_TRANSLATED en tr HP:0032938 IAO:0000115 Recurrent distressing dreams in which the content and/or affect of the dream are related to the traumatic event or events Recurrent distressing dreams in which the content and/or affect of the dream are related to the traumatic event or events NOT_TRANSLATED @@ -561,9 +699,11 @@ en tr HP:0033060 IAO:0000115 A reduced level of the complement component C5 in t en tr HP:0033060 rdfs:label Decreased serum complement C5 Decreased serum complement C5 NOT_TRANSLATED en tr HP:0033063 IAO:0000115 A tendency to sleep less hours than usual while feeling well rested A tendency to sleep less hours than usual while feeling well rested NOT_TRANSLATED en tr HP:0033063 rdfs:label Shortened sleep cycle Shortened sleep cycle NOT_TRANSLATED +en tr HP:0033068 IAO:0000115 A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber colour. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber colour. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance NOT_TRANSLATED en tr HP:0033080 IAO:0000115 Thyrotrophin-releasing hormone (TRH) is a hypothalamic tripeptide synthesised by, stored within and released from the hypothalamus. It stimulates the synthesis and release of thyroid-stimulating hormone (TSH) from the anterior pituitary gland. Following administration of exogenous TRH, a transient increase in serum TSH is expected. This term refers to an abnormal reponse in the TRH stimulation test Thyrotrophin-releasing hormone (TRH) is a hypothalamic tripeptide synthesised by, stored within and released from the hypothalamus. It stimulates the synthesis and release of thyroid-stimulating hormone (TSH) from the anterior pituitary gland. Following administration of exogenous TRH, a transient increase in serum TSH is expected. This term refers to an abnormal reponse in the TRH stimulation test NOT_TRANSLATED en tr HP:0033092 IAO:0000115 An increase in the level of succinate in the urine An increase in the level of succinate in the urine NOT_TRANSLATED en tr HP:0033114 IAO:0000115 A type of gallop rhytm in which both the third and the fourth sounds are present A type of gallop rhytm in which both the third and the fourth sounds are present NOT_TRANSLATED +en tr HP:0033126 IAO:0000115 Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red coloured skin Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red coloured skin NOT_TRANSLATED en tr HP:0033136 IAO:0000115 An inflammed lymph node that is filled with pus An inflammed lymph node that is filled with pus NOT_TRANSLATED en tr HP:0033154 IAO:0000115 An increased concentration of lysyl-pyridinoline (deoxypyridinoline) cross-links in the bloood circulation An increased concentration of lysyl-pyridinoline (deoxypyridinoline) cross-links in the bloood circulation NOT_TRANSLATED en tr HP:0033159 IAO:0000115 Decreased level of inosine in urine. Inosine is a purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond Decreased level of inosine in urine. Inosine is a purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond NOT_TRANSLATED @@ -581,7 +721,9 @@ en tr HP:0033302 IAO:0000115 An abnormally increased concentration of 4-Hydroxyp en tr HP:0033324 IAO:0000115 Increased concentration of homovanillic acid in the blood circulation Increased concentration of homovanillic acid in the blood circulation NOT_TRANSLATED en tr HP:0033332 IAO:0000115 An increased concentration of serum amyloid A in the blood circulation An increased concentration of serum amyloid A in the blood circulation NOT_TRANSLATED en tr HP:0033332 rdfs:label Elevated circulating amyloid A Elevated circulating amyloid A NOT_TRANSLATED +en tr HP:0033349 IAO:0000115 A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognisable by the primary clinician, carer or patient A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognisable by the primary clinician, carer or patient NOT_TRANSLATED en tr HP:0033363 IAO:0000115 Hyaline membranes are homogeneous eosinophilic material composed of cellular debris, plasma proteins, and surfactantnplastered against alveolar ducts and alveolar walls. The hyaline membranes are deposited along the walls of the alveoli, where gas exchange typically occurs, thereby making gas exchange difficult Hyaline membranes are homogeneous eosinophilic material composed of cellular debris, plasma proteins, and surfactantnplastered against alveolar ducts and alveolar walls. The hyaline membranes are deposited along the walls of the alveoli, where gas exchange typically occurs, thereby making gas exchange difficult NOT_TRANSLATED +en tr HP:0033398 IAO:0000115 Deposits of hyalinized collagen fibres in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs) Deposits of hyalinized collagen fibres in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs) NOT_TRANSLATED en tr HP:0033436 IAO:0000115 An abnormally increased concentration of 3-methyl-2-oxovaleric acid in the blood circulation An abnormally increased concentration of 3-methyl-2-oxovaleric acid in the blood circulation NOT_TRANSLATED en tr HP:0033437 IAO:0000115 Abnormal increase of the concentration of 4-methyl-2-oxopentanoic acid in the blood circulation Abnormal increase of the concentration of 4-methyl-2-oxopentanoic acid in the blood circulation NOT_TRANSLATED en tr HP:0033439 IAO:0000115 Increased concentration of decenoylcarnitine in the blood circulation Increased concentration of decenoylcarnitine in the blood circulation NOT_TRANSLATED @@ -608,11 +750,18 @@ en tr HP:0033519 rdfs:label Methamphetamine addiction Methamphetamine addiction en tr HP:0033520 IAO:0000115 Paradoxical embolism describes the passage of a venous or right-sided cardiac thrombus into the arterial or systemic circulation.nComment: Paradoxical embolism occurs most commonly through an intracardiac defect at the atrial level, but can also be due to another type of right-to-left-shunt, as for example in pulmonary arteriovenous malformations. Paradoxical embolism may lead to serious complications as ischemic stroke Paradoxical embolism describes the passage of a venous or right-sided cardiac thrombus into the arterial or systemic circulation.nComment: Paradoxical embolism occurs most commonly through an intracardiac defect at the atrial level, but can also be due to another type of right-to-left-shunt, as for example in pulmonary arteriovenous malformations. Paradoxical embolism may lead to serious complications as ischemic stroke NOT_TRANSLATED en tr HP:0033543 IAO:0000115 Nicotine addition can be defined as chronic compulsive nicotine seeking and continued use despite harmful consequences Nicotine addition can be defined as chronic compulsive nicotine seeking and continued use despite harmful consequences NOT_TRANSLATED en tr HP:0033543 rdfs:label Nicotine addiction Nicotine addiction NOT_TRANSLATED +en tr HP:0033552 IAO:0000115 Villitis of unknown etiology (synonymous with villitis of unknown aetiology) is a histologic diagnosis and, although it may have a variable distribution, evidence indicates that 3 parenchymal blocks will identify 62% of villitis, reaching an asymptote of 6 and 7 blocks identifying 85% of villitis. Villitis of unknown etiology by definition excludes those cases where an etiology is identified, such as viral or acute infections, and thus is preferred to the term nonspecific chronic villitis. It is usually lymphohistiocytic: although the presence of rare plasma cells does not exclude the diagnosis, thorough evaluation for an infectious etiology, such as cytomegalovirus, is required in a predominantly plasma cell villitis Villitis of unknown etiology (synonymous with villitis of unknown aetiology) is a histologic diagnosis and, although it may have a variable distribution, evidence indicates that 3 parenchymal blocks will identify 62% of villitis, reaching an asymptote of 6 and 7 blocks identifying 85% of villitis. Villitis of unknown etiology by definition excludes those cases where an etiology is identified, such as viral or acute infections, and thus is preferred to the term nonspecific chronic villitis. It is usually lymphohistiocytic: although the presence of rare plasma cells does not exclude the diagnosis, thorough evaluation for an infectious etiology, such as cytomegalovirus, is required in a predominantly plasma cell villitis NOT_TRANSLATED en tr HP:0033561 IAO:0000115 The presence of autoantibodies in the blood circulation that react against bactericidal/permeability-increasing protein (BPI). BPI is an endotoxin-binding host protein with important antibacterial effects against Gram-negative bacteria, such as Pseudomonas aeruginosa. nBPI is a 55 kDalton protein that is most abundant in the azurophilic granules of neutrophils. BPI also acts as a target antigen for antineutrophil cytoplasmic autoantibodies The presence of autoantibodies in the blood circulation that react against bactericidal/permeability-increasing protein (BPI). BPI is an endotoxin-binding host protein with important antibacterial effects against Gram-negative bacteria, such as Pseudomonas aeruginosa. nBPI is a 55 kDalton protein that is most abundant in the azurophilic granules of neutrophils. BPI also acts as a target antigen for antineutrophil cytoplasmic autoantibodies NOT_TRANSLATED +en tr HP:0033578 IAO:0000115 Pre-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg) Pre-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg) NOT_TRANSLATED +en tr HP:0033580 IAO:0000115 An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibres in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fibre action potentials. The shortest latency of the CMAP is the time from stimulus artefact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV) An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibres in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fibre action potentials. The shortest latency of the CMAP is the time from stimulus artefact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV) NOT_TRANSLATED +en tr HP:0033613 IAO:0000115 Solid, homogenous nodules characterised by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes Solid, homogenous nodules characterised by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes NOT_TRANSLATED en tr HP:0033627 IAO:0000115 Increased amount of harderoporphyrin in the urine Increased amount of harderoporphyrin in the urine NOT_TRANSLATED +en tr HP:0033635 IAO:0000115 Post-capillary pulmonary hypertension is a hemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units) Post-capillary pulmonary hypertension is a hemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units) NOT_TRANSLATED +en tr HP:0033636 IAO:0000115 Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units) Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units) NOT_TRANSLATED en tr HP:0033650 IAO:0000115 A parenchymal band is a linear opacity, usually 1-3 mm thick and up to 5 cm long that usually extends to the visceral pleuran(which is often thickened and may be retracted at the site of contact). It reflects pleuroparenchymal fibrosis and is usually associated with distortion of the lung architecture. Parenchymal bands are most frequently encountered in individuals who have been exposed to asbestos A parenchymal band is a linear opacity, usually 1-3 mm thick and up to 5 cm long that usually extends to the visceral pleuran(which is often thickened and may be retracted at the site of contact). It reflects pleuroparenchymal fibrosis and is usually associated with distortion of the lung architecture. Parenchymal bands are most frequently encountered in individuals who have been exposed to asbestos NOT_TRANSLATED en tr HP:0033664 IAO:0000115 Gangliogliomas are rare tumours of the central nervous system. The are WHO grade I and considered low grade. They are well differentiated neuroepithelial tumours consisting of both dysplastic neuronal and neoplastic glial cells Gangliogliomas are rare tumours of the central nervous system. The are WHO grade I and considered low grade. They are well differentiated neuroepithelial tumours consisting of both dysplastic neuronal and neoplastic glial cells NOT_TRANSLATED en tr HP:0033676 IAO:0000115 A behavioral or psychological symptom that typically occurs following exposure to one or more traumatic events. Posttraumatic stress disorder (PTSD) symptoms include intrusive recollections (re-experiencing the trauma in flashbacks, memories or nightmares); avoidant and numbing symptoms (including diminished emotions and avoidance of situations that are reminders of the traumatic event); and hyperarousal (including increased irritability, exaggerated startle reactions or difficulty sleeping or concentrating) A behavioral or psychological symptom that typically occurs following exposure to one or more traumatic events. Posttraumatic stress disorder (PTSD) symptoms include intrusive recollections (re-experiencing the trauma in flashbacks, memories or nightmares); avoidant and numbing symptoms (including diminished emotions and avoidance of situations that are reminders of the traumatic event); and hyperarousal (including increased irritability, exaggerated startle reactions or difficulty sleeping or concentrating) NOT_TRANSLATED +en tr HP:0033680 IAO:0000115 The most common form of astrocytoma (WHO Grade I) in childhood. These typically have MAPK signalling pathway abnormalities The most common form of astrocytoma (WHO Grade I) in childhood. These typically have MAPK signalling pathway abnormalities NOT_TRANSLATED en tr HP:0033694 IAO:0000115 The false perception of tactile sensory input that creates a hallucinatory sensation of physical contact with an imaginary object The false perception of tactile sensory input that creates a hallucinatory sensation of physical contact with an imaginary object NOT_TRANSLATED en tr HP:0033705 IAO:0000115 A feeling of sadness characterized by crying episodes that can come on suddenly and are not under usual social control A feeling of sadness characterized by crying episodes that can come on suddenly and are not under usual social control NOT_TRANSLATED en tr HP:0033706 IAO:0000115 This condition is caused by slow-growing conglomeration of dust particles and collagen deposition in individuals (mostly coal workers) heavily exposed to inorganic dust. Progressive massive fibrosis manifests as masslike lesions, usually bilateral and innthe upper lobes. Background nodular opacities reflect accompanying pneumoconiosis, with or without emphysematous destruction adjacent to the massive fibrosis. Lesions similar to progressive massive fibrosis sometimes occur in other conditions, such as sarcoidosis and talcosis This condition is caused by slow-growing conglomeration of dust particles and collagen deposition in individuals (mostly coal workers) heavily exposed to inorganic dust. Progressive massive fibrosis manifests as masslike lesions, usually bilateral and innthe upper lobes. Background nodular opacities reflect accompanying pneumoconiosis, with or without emphysematous destruction adjacent to the massive fibrosis. Lesions similar to progressive massive fibrosis sometimes occur in other conditions, such as sarcoidosis and talcosis NOT_TRANSLATED @@ -626,12 +775,14 @@ en tr HP:0034026 rdfs:label Elevated circulating sacchoropine concentration Elev en tr HP:0034041 rdfs:label Ventricular ectopy Ventricular ectopy NOT_TRANSLATED en tr HP:0034074 IAO:0000115 An abnormally elevated echogenicity of fetal long bones in a prenatal sonographic investigation. Ths finding is due to hypermineralization An abnormally elevated echogenicity of fetal long bones in a prenatal sonographic investigation. Ths finding is due to hypermineralization NOT_TRANSLATED en tr HP:0034116 rdfs:label Anti-thyrotropin receptor antibody Anti-thyrotropin receptor antibody NOT_TRANSLATED +en tr HP:0034192 IAO:0000115 Pulmonary embolism is caused by emboli, which have originated from venous thrombi, travelling to and occluding the arteries of the lung Pulmonary embolism is caused by emboli, which have originated from venous thrombi, travelling to and occluding the arteries of the lung NOT_TRANSLATED en tr HP:0034206 IAO:0000115 An anomlous structural finding of the fetal central nervous system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes An anomlous structural finding of the fetal central nervous system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes NOT_TRANSLATED en tr HP:0034207 IAO:0000115 An anomlous structural finding of the fetal gastrointestinal system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes An anomlous structural finding of the fetal gastrointestinal system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes NOT_TRANSLATED en tr HP:0034242 IAO:0000115 An anomlous structural finding of the fetal genitourinary system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes An anomlous structural finding of the fetal genitourinary system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes NOT_TRANSLATED en tr HP:0034243 IAO:0000115 An anomlous structural finding of the fetal lungs. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes An anomlous structural finding of the fetal lungs. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes NOT_TRANSLATED en tr HP:0034290 IAO:0000115 An increased concentration of tiglylglycine in the blood circulation An increased concentration of tiglylglycine in the blood circulation NOT_TRANSLATED en tr HP:0034300 IAO:0000115 Reduced enzyme of acid sphingomyelinase activity in the blood circulation Reduced enzyme of acid sphingomyelinase activity in the blood circulation NOT_TRANSLATED +en tr HP:0034302 IAO:0000115 A congenitally anomalous enlarged optic disk (surface area greater than 2.50 square millimeters). It is considered to be a normal variant without physiological defects A congenitally anomalous enlarged optic disk (surface area greater than 2.50 square millimeters). It is considered to be a normal variant without physiological defects NOT_TRANSLATED en tr HP:0034318 IAO:0000115 Reactivation is the mechanism whereby a latent virus that has infected a host cell switches to a lytic stage, undergoing productive viral replication and allowing the virus to spread. This term refers to reactivation regarded as unusual because of frequency, intensity, location, or nature of the virus, in the sense that the rreactivation would not be observed in an immunocompetent host Reactivation is the mechanism whereby a latent virus that has infected a host cell switches to a lytic stage, undergoing productive viral replication and allowing the virus to spread. This term refers to reactivation regarded as unusual because of frequency, intensity, location, or nature of the virus, in the sense that the rreactivation would not be observed in an immunocompetent host NOT_TRANSLATED en tr HP:0034321 IAO:0000115 An increased concentration of guanidinoacetic acid in the blood circulation An increased concentration of guanidinoacetic acid in the blood circulation NOT_TRANSLATED en tr HP:0034326 IAO:0000115 Ectopic endometrial tissue within the uterine myometrium Ectopic endometrial tissue within the uterine myometrium NOT_TRANSLATED @@ -640,6 +791,8 @@ en tr HP:0034337 IAO:0000115 An abormality of the hand characterized by metacarp en tr HP:0034367 IAO:0000115 Abnormally reduced activity of the enzyme beta-mannosidase, which is a lysosomal enzyme that catabolized oligosaccharides Abnormally reduced activity of the enzyme beta-mannosidase, which is a lysosomal enzyme that catabolized oligosaccharides NOT_TRANSLATED en tr HP:0034367 rdfs:label Decreased beta-mannosidase activity Decreased beta-mannosidase activity NOT_TRANSLATED en tr HP:0034379 rdfs:label Vascular granular osmiophilic material deposition Vascular granular osmiophilic material deposition NOT_TRANSLATED +en tr HP:0034388 IAO:0000115 Hilar lymphadenopathy is swelling or enlargement of lymph nodes localised in hila, wedge-shaped anatomical structures containing pulmonary vessels, major bronchi, nerves and lymph nodes. Hilar lymph nodes are not visible on chest X-ray if they are not enlarged. Hilar lymph node enlargement can be caused by benign and malignant conditions and can be symmetrical (bilateral) or asymmetrical (unilateral) Hilar lymphadenopathy is swelling or enlargement of lymph nodes localised in hila, wedge-shaped anatomical structures containing pulmonary vessels, major bronchi, nerves and lymph nodes. Hilar lymph nodes are not visible on chest X-ray if they are not enlarged. Hilar lymph node enlargement can be caused by benign and malignant conditions and can be symmetrical (bilateral) or asymmetrical (unilateral) NOT_TRANSLATED +en tr HP:0034389 IAO:0000115 Pulmonary vein varix (PVV), refers to a localised dilatation of a pulmonary vein. PVV is a rare condition and can be congenital or acquired. PVV typically occur at the confluence of the veins adjacent to the left atrium. PVVs are sometimes classified into three morphological types: saccular, tortuous and confluent Pulmonary vein varix (PVV), refers to a localised dilatation of a pulmonary vein. PVV is a rare condition and can be congenital or acquired. PVV typically occur at the confluence of the veins adjacent to the left atrium. PVVs are sometimes classified into three morphological types: saccular, tortuous and confluent NOT_TRANSLATED en tr HP:0034402 IAO:0000115 A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm NOT_TRANSLATED en tr HP:0034434 IAO:0000115 Any abnormal behavior related to communication Any abnormal behavior related to communication NOT_TRANSLATED en tr HP:0034434 rdfs:label Abnormal social communication behavior Abnormal social communication behavior NOT_TRANSLATED @@ -651,6 +804,7 @@ en tr HP:0034497 IAO:0000115 An increased amount of hexanoic acid in the urine A en tr HP:0034501 IAO:0000115 Abnormal lincrease in the width of the mediastinum, often defined as being greater than 6 to 8cm Abnormal lincrease in the width of the mediastinum, often defined as being greater than 6 to 8cm NOT_TRANSLATED en tr HP:0034510 IAO:0000115 Any deviation from the normal activity of an enzyme in muscle tissue, usually measured in a muscle biopsy specimen Any deviation from the normal activity of an enzyme in muscle tissue, usually measured in a muscle biopsy specimen NOT_TRANSLATED en tr HP:0034510 rdfs:label Abnormal muscle tissue enzyme activity Abnormal muscle tissue enzyme activity NOT_TRANSLATED +en tr HP:0040057 rdfs:label Abnormality of nasal hair Burun kılı anormalliği OFFICIAL en tr HP:0040082 IAO:0000115 A conspicuously happy disposition with frequent smiling and laughing that may be context-inappropriate or unrelated to context Bariz mutlu insan hali bağlamı uygun olmayan veya bağlama ilgisiz olan sık gülümseme ve gülme CANDIDATE en tr HP:0040090 IAO:0000115 An abnormality of the tympanic membrane Timpan zarının bir anormalliği CANDIDATE en tr HP:0040090 rdfs:label Abnormality of the tympanic membrane Timpanik membran anormalliği OFFICIAL @@ -660,10 +814,15 @@ en tr HP:0040108 rdfs:label Morphological abnormality of the anterior semicircul en tr HP:0040109 rdfs:label Morphological abnormality of the utricle Ütrikülün morfolojik anormalliği CANDIDATE en tr HP:0040110 rdfs:label Morphological abnormality of the saccule Sakülün morfolojik anormalliği CANDIDATE en tr HP:0040126 rdfs:label Abnormal vitamin B12 level Anormal serum kobalamin seviyesi OFFICIAL +en tr HP:0040130 rdfs:label Abnormal serum iron concentration Anormal serum demiri OFFICIAL +en tr HP:0040142 IAO:0000115 Decreased level of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate 5-okso-L-prolin + ATP + 2 H(2)O = L-glutamat + ADP + 2 H(+) + fosfat reaksiyonunun azalmış aktivitesi CANDIDATE +en tr HP:0040142 rdfs:label Reduced 5-oxoprolinase level 5-okzoprolinaz eksikliği CANDIDATE +en tr HP:0040149 IAO:0000115 The presence of woolly hair on the scalp. The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter The presence of woolly hair on the scalp. The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter NOT_TRANSLATED en tr HP:0040208 IAO:0000115 Increased concentration of biopterin in the cerebrospinal fluid (CSF) Beyin omurilik sıvısında (BOS) artmış biyoprotein konsantrasyonu OFFICIAL en tr HP:0040209 IAO:0000115 Decreased concentration of biopterin in the cerebrospinal fluid (CSF) Beyin omurilik sıvısında (BOS) azalmış biyopterin konsantrasyonu OFFICIAL en tr HP:0040268 rdfs:label Recurrent infections of the middle ear Tekrarlayan orta kulak enfeksiyonları OFFICIAL en tr HP:0040278 rdfs:label Prolactinoma Prolaktinoma OFFICIAL +en tr HP:0040303 rdfs:label Decreased serum iron Azalmış serum demiri OFFICIAL en tr HP:0040323 rdfs:label Erythema of the eyelids Göz kapaklarının eritemi OFFICIAL en tr HP:0041048 IAO:0000115 A decrease in the protein expression fo GPI-anchor proteins, such as CD55 and CD59, at the cell surface, which suggests a defect in GPI-anchor biosynthesis A decrease in the protein expression fo GPI-anchor proteins, such as CD55 and CD59, at the cell surface, which suggests a defect in GPI-anchor biosynthesis NOT_TRANSLATED en tr HP:0041063 rdfs:label Chronic decreased cirulating IgG2 Chronic decreased cirulating IgG2 NOT_TRANSLATED @@ -687,14 +846,18 @@ en tr HP:0045057 IAO:0000115 A decrease in the concentration of alpha-fetoprotei en tr HP:0045057 rdfs:label Decreased levels of alpha-fetoprotein Azalmış alfa fetoprotein düzeyleri OFFICIAL en tr HP:0100007 IAO:0000115 A benign or malignant neoplasm (tumour) of the peripheral nervous system Periferik sinir sisteminin benign veya kötü huylu neoplazmı (tümörü) OFFICIAL en tr HP:0100016 rdfs:label Abnormality of mesentery morphology Mezenter morfoloji anormalliği OFFICIAL +en tr HP:0100021 IAO:0000115 Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems Beyin felci, gelişmekte olan fetüs veya bebek beyninde meydana gelen ilerlemeyen bozukluklara atfedilen, hareket ve duruşun gelişmesindeki kalıcı bozuklukların bir grubunu, aktivite sınırlamasına neden olarak tanımlar. Beyin felcinin motor bozukluklarına, genellikle duyumsama, algılama, biliş, iletişim ve davranış bozuklukları, epilepsi ve ikincil kas-iskelet problemleri eşlik eder OFFICIAL en tr HP:0100023 IAO:0000115 A type of stereotypic behavior in which the affected individual repeatedly waves the hands up and down Etkilenen kişinin tekrar tekrar elleri salladığı basmakalıp davranış türü OFFICIAL en tr HP:0100024 IAO:0000115 An unusually happy aspect over time which can also may be observed during inappropriate situations that should be causing for example distress, fear or anger Örneğin sıkıntı, korku veya öfkeye neden olan uygunsuz durumlar sırasında da gözlemlenebilen, alışılmışın dışında mutluluk verici bir görünüş OFFICIAL en tr HP:0100025 IAO:0000115 A form of hypersociability that presents as mostly inappropriate people-orientation and friendliness towards others on an inadequate level which might go as far as being dangerous considering for example young children following strangers without restriction Çoğunlukla alakası olmayan insanlara ve başkalarına karşı arkadaşlığını yetersiz seviyede gösteren, örneğin sınırlama olmaksızın yabancıları takip eden küçük çocukları göz önünde bulundurarak tehlikeli olabilecek bir aşırı sosyallik biçimi OFFICIAL en tr HP:0100033 IAO:0000115 Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppresable and are usually associated with awareness of an urge to perform the movement Tekrarlayan, bireysel olarak algılanabilen, çoğu zaman kısmen bastırılabilir ve genellikle hareketi gerçekleştirmeye yönelik bir istek uyandırması ile ilişkili olan aralıklı hareketler veya hareket parçaları OFFICIAL en tr HP:0100035 IAO:0000115 Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound Burun, ağız veya boğaz yoluyla havanın hareket ettirilmesiyle ortaya çıkan istemsiz sesler. Ses telleri, ses üreten her tikte yer almaz OFFICIAL +en tr HP:0100241 IAO:0000115 Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations Ciltte yüzeysel bir lezyon olarak görülen ektopik solunum yolu epiteli, genellikle önkol derisinde tek taraflı lokalizasyonu gösterir ve aynı taraftaki el kusurları ile ilişkilidir OFFICIAL en tr HP:0100251 IAO:0000115 The presence of mulitple lipomas located in the central nervous system The presence of mulitple lipomas located in the central nervous system NOT_TRANSLATED +en tr HP:0100274 IAO:0000115 Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal Tat duyusu ile göz yaşı salgılanması normalde submandibüler gangliyon için gönderilen yedinci kafa sinir liflerinin pterigopalantin gangliyona gittiği atipik uyarılmadan kaynaklanmaktadır. Bu atipik uyarım yerken veya yemek beklerken kontrolsüz göz yaşarmasına yol açmaktadır OFFICIAL en tr HP:0100291 rdfs:label Abnormality of central somatosensory evoked potentials Somatosensoriyel uyarılmış merkez potansiyellerin anormalliği OFFICIAL en tr HP:0100311 IAO:0000115 Bands of scar-like tisssue that hve formed within a cerebral ventricle Bands of scar-like tisssue that hve formed within a cerebral ventricle NOT_TRANSLATED +en tr HP:0100326 IAO:0000115 Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens Duyarlılık oluşturan antijenlere yeniden maruziyeti takiben bağışıklık sisteminin zararlı yanıtlar ürettiği immünolojik durumlar OFFICIAL en tr HP:0100335 IAO:0000115 Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region Orta hat/medyan bölge yerine üst dudağın lateral bölümlerini etkileyen üst dudağın yarılması OFFICIAL en tr HP:0100335 rdfs:label Non-midline cleft lip Orta hatta olmayan dudak yarığı OFFICIAL en tr HP:0100502 rdfs:label Vitamin B12 deficiency B12 vitamini eksikliği OFFICIAL @@ -715,6 +878,7 @@ en tr HP:0100514 rdfs:label Abnormality of vitamin E metabolism E vitamini metab en tr HP:0100523 IAO:0000115 The presence of an abscess of the liver Karaciğer absesinin varlığı OFFICIAL en tr HP:0100530 rdfs:label Abnormal calcium-phosphate regulating hormone level Kalsiyum-fosfat metabolizmasının anormalliği CANDIDATE en tr HP:0100543 IAO:0000115 Abnormal cognition with deficits in thinking, reasoning, or remembering Bilgiyi işleme yeteneği de dahil olmak üzere düşünce sürecindeki anormallik CANDIDATE +en tr HP:0100685 IAO:0000115 An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone Periosteumu kemiğe bağlayan güçlü kolajen lif demetlerinden oluşan bağ dokusunun bir matrisi olan Sharpey liflerinin (kemik lifleri veya delici lifler) bir anormalliği OFFICIAL en tr HP:0100698 IAO:0000115 The presence of Neurofibromas in the subcutis Deri altında nörofibromların varlığı OFFICIAL en tr HP:0100698 rdfs:label Subcutaneous neurofibromas Subkutanöz nörofibromlar OFFICIAL en tr HP:0100710 IAO:0000115 Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; difficulty establishing or following plans; a sense of urgency and self-harming behavior under emotional distress Acil uyarılara tepki olarak anın spur üzerinde hareket etme; bir plan ya da sonuçların dikkate almadan anlık olarak hareket etme; planları oluşturma veya takip etme zorluğu; duygusal sıkıntıda aciliyet ve kendini canlandırma hissi CANDIDATE @@ -724,11 +888,13 @@ en tr HP:0100738 IAO:0000115 Abnormal eating habit with excessive or insufficien en tr HP:0100742 IAO:0000115 A benign or malignant neoplasm (tumour) originating in the vascular system Vasküler sistemden köken alan benign veya malign bir neoplazi (tümör) OFFICIAL en tr HP:0100753 IAO:0000115 A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7% Düşünce süreçlerinin ve duygusal cevap vermenin bölünmesi ile karakterize olan bir zihinsel bozukluk. Genelde işitsel varsanrılar, paranoyak ya da anormal sanrılar, dağınık konuşma ve düşünme olarak ortaya çıkar ve bunlara önemli sosyalya da mesleki fonksiyon bozukluğu eşlik eder. Semptomların başlangıcı tipik olarak genç yetişkinlikte oluşur ve global ömür boyu % 0.3-0.7 oranında görülür CANDIDATE en tr HP:0100754 IAO:0000115 A state of abnormally elevated or irritable mood, arousal, and or energy levels Anormal derecede yükselmiş veya sinir bozucu bir ruh hali, uyarılma ve veya enerji seviyeleri CANDIDATE +en tr HP:0100832 IAO:0000115 Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent Normalde şeffaf olan gözün vitröz mizahındaki çeşitli boyut, şekil, tutarlılık, kırılma indeksi ve hareketliliğin biriktirilmesi CANDIDATE en tr HP:0100851 IAO:0000115 An abnormality of emotional behaviour Duygusal davranışın bir anormalliği OFFICIAL en tr HP:0100851 rdfs:label Abnormal emotion/affect behavior Anormal duygu/duygulanım davranışı OFFICIAL en tr HP:0100852 IAO:0000115 An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response Hem anksiyeteye/korkuya bağlı tepkide anormal azalış hem de anksiyeteye/korkuya bağlı tepkide anormal artış dolayısıyla olabilen anksiyeteye/korkuya bağlı davranış anormalliği CANDIDATE en tr HP:0100852 rdfs:label Abnormal fear/anxiety-related behavior Anormal korku/anksiyeteye bağlı davranış OFFICIAL en tr HP:0100889 rdfs:label Abnormality of the ductus choledochus Koledok kanalı anormalliği OFFICIAL +en tr HP:0100962 rdfs:label Shyness Utangaçlık OFFICIAL en tr HP:0200000 rdfs:label Dysharmonic bone age Disharmonik kemik yaşı OFFICIAL en tr HP:0410003 rdfs:label Cleft maxillary alveolus Yarık primer damak OFFICIAL en tr HP:0410051 IAO:0000115 An increase in the level of 3-hydroxy-3-methylglutaric acid in the urine An increase in the level of 3-hydroxy-3-methylglutaric acid in the urine NOT_TRANSLATED @@ -749,12 +915,22 @@ en tr HP:0410146 IAO:0000115 An increase in biotinidase level, an enzyme that re en tr HP:0410146 rdfs:label Increased biotinidase level Artmış biyotidinaz aktivitesi CANDIDATE en tr HP:0410153 IAO:0000115 An increase in the level of methylsuccinic acid in the urine İdrarda metilsüksinik asit seviyesinde bir artış OFFICIAL en tr HP:0410176 rdfs:label Abnormal glucose-6-phosphate dehydrogenase level Anormal glukoz-6-fosfat dehidrogenaz seviyesi OFFICIAL +en tr HP:0410192 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level Anormal üridin difosfat glukoz-4-epimeraz aktivitesi CANDIDATE +en tr HP:0410193 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level in plasma Plazmada anormal üridin difosfat glukoz-4-epimeraz aktivitesi CANDIDATE +en tr HP:0410194 rdfs:label Increased uridine diphosphate glucose-4-epimerase level in plasma Plazmada artmış üridin difosfat glukoz-4-epimeraz aktivitesi CANDIDATE +en tr HP:0410195 rdfs:label Decreased uridine diphosphate glucose-4-epimerase level in plasma Plazmada azalmış üridin difosfat glukoz-4-epimeraz aktivitesi CANDIDATE +en tr HP:0410196 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells Kırmızı kan hücrelerinde anormal üridin difosfat glukoz-4-epimeraz aktivitesi CANDIDATE +en tr HP:0410197 rdfs:label Increased uridine diphosphate glucose-4-epimerase level in red blood cells Kırmızı kan hücrelerinde artmış üridin difosfat glukoz-4-epimeraz aktivitesi CANDIDATE +en tr HP:0410198 rdfs:label Decreased uridine diphosphate glucose-4-epimerase level in red blood cells Kırmızı kan hücrelerinde azalmış üridin difosfat glukoz-4-epimeraz aktivitesi CANDIDATE en tr HP:0410280 IAO:0000115 Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset Erişkinlikten önce, 16 yaşından önce olarak tanımlanan, fakat neonatal veya konjenital başlangıcı dışlayan hastalık belirtisi başlangıcı CANDIDATE en tr HP:0410309 IAO:0000115 A increased concentration of alpha-aminoadipic acid in the urine A increased concentration of alpha-aminoadipic acid in the urine NOT_TRANSLATED en tr HP:0410325 rdfs:label House dust mite allergy House dust mite allergy NOT_TRANSLATED en tr HP:0410350 IAO:0000115 An abnormal increase in the concentrationl of small fucosylated oligosaccharides in the urine An abnormal increase in the concentrationl of small fucosylated oligosaccharides in the urine NOT_TRANSLATED en tr HP:0500046 IAO:0000115 Inflamation of the eyelid due to overactivity of the sebaceous gland Sebasöz bezin aşırı aktivitesine bağlı göz kapağı inflamasyonu OFFICIAL +en tr HP:0500070 IAO:0000115 A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus Yağ dokusu ve yoğun bağ dokusundan oluşan konjonktival bir lezyon. Dermal bileşenlerin bu koristomaları normal olarak dış kantusta bulunur ve jelatinimsi bir görünüme sahiptir. Klasik olarak belirsiz posterior sınır (sıkça göz çukuru içine uzanan lezyon ile) ve limbus posterioruna bir kaç milimetre mesafede iyi sınırlı anterior sınır vardır OFFICIAL +en tr HP:0500086 IAO:0000115 Having a characteristic appearance of a slate gray area of pigmentation within the disc margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas Ortak olarak inferotemporal veya temporal nöroretinal sınır alanları boyunca gözüken disk sınırları içinde arduvaz grisi karakteristik bir pigmentasyon alan görünümüne sahip olan OFFICIAL en tr HP:0500089 IAO:0000115 A benign tumour of meningothelial cells of the meninges that usually occurs in middle age. It is typically unilateral and there is an association with neurofibromatosis type 2 Genellikle orta yaşlarda meydana gelen meninklerin meningotelyal hücrelerinin selim bir tümörü. Tipik olarak unilateraldir ve nörofibromatozis tip 2 ile ilişkisi vardır OFFICIAL +en tr HP:0500091 IAO:0000115 A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva manoeuvre. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to haemorrhage Genellikle çocuklukta kendini gösteren lenf damarlarının bir hamartomu. Baş aşağı duruş ve Valsalva manevrası ile boyutta artış gösterme eğilimindedir. Yüzeysel lezyonlar göz kapağının veya konjunktivanın arkadan ışık ile aydınlanabilecek, kan da içerebilen kistik boşluklar olarak görünür. Derin lezyonlar kademeli propitozise neden olabilir veya akut olarak orbital ağrı ve hemorajiye bağlı olarak azalmış görüş ile kendini gösterir OFFICIAL en tr HP:0500092 IAO:0000115 A mesenchymal tumour that is considered to be the commonest primary orbital malignancy in children. Histologically, it may be differentiated into embryonal, alveolar, and pleomorphic types. It is usually intraconal or within the superior orbit Çocuklardaki en sık birincil orbital kötü huylu tümör olduğu düşünülen mezenkimal bir tümör. Histolojik olarak embriyonel, alveolar ve pleomorfik tiplere farklılaşabilir. Genellikle intrakonaldir veya superior orbita içindedir OFFICIAL en tr HP:0500149 IAO:0000115 An increased amount of glutamate in the blood Kanda artmış bir glutamat miktarı OFFICIAL en tr HP:0500161 IAO:0000115 An increased amount of carnosine in the blood Kanda artmış bir karnozin miktarı OFFICIAL @@ -762,10 +938,14 @@ en tr HP:0500161 rdfs:label Increased level of carnosine in blood Kanda artmış en tr HP:0500162 rdfs:label Decreased level of carnosine in blood Kanda azalmış karnozin seviyesi OFFICIAL en tr HP:0500210 IAO:0000115 Abnormally increased levels of methionine in cerebrospinal fluid Abnormally increased levels of methionine in cerebrospinal fluid NOT_TRANSLATED en tr HP:0500248 IAO:0000115 Abnormally increased levels of alpha-aminobutyrate in cerebrospinal fluid Abnormally increased levels of alpha-aminobutyrate in cerebrospinal fluid NOT_TRANSLATED +en tr HP:3000004 IAO:0000115 An abnormality of a frontalis muscle belly Frontalis kas karnının bir anormalliği OFFICIAL +en tr HP:3000004 rdfs:label Abnormality of frontalis muscle belly Frontalis kas karnının anormalliği OFFICIAL +en tr HP:4000008 IAO:0000115 Pronuclei formation is a critical process during fertilisation. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilisation. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilisation with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI Pronuclei formation is a critical process during fertilisation. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilisation. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilisation with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI NOT_TRANSLATED en tr HP:4000009 IAO:0000115 An excessive, irrational and debilitating fear to carry out a physical movement, due to a feeling of vulnerability to a painful injury or reinjury An excessive, irrational and debilitating fear to carry out a physical movement, due to a feeling of vulnerability to a painful injury or reinjury NOT_TRANSLATED en tr HP:4000020 IAO:0000115 Bullous pemphigoid (BP) is an autoimmune disease associated with subepidermal blistering due to autoantibodies directed against BP180 and BP230. BP180 is currently considered as the major pathogenic autoantigen Bullous pemphigoid (BP) is an autoimmune disease associated with subepidermal blistering due to autoantibodies directed against BP180 and BP230. BP180 is currently considered as the major pathogenic autoantigen NOT_TRANSLATED en tr HP:4000025 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against an integrin. Integrins are a family of cell adhesion moleculeswith 24 known integrin heterodimers. Integrins transduce mechanical and biochemical signals from fibrotic extracellular matrix into the cell, activate latent TGFbeta, and subsequently modulate fibroblast adhesion, migration, and growth The presence of autoantibodies (immunoglobulins) in the serum that react against an integrin. Integrins are a family of cell adhesion moleculeswith 24 known integrin heterodimers. Integrins transduce mechanical and biochemical signals from fibrotic extracellular matrix into the cell, activate latent TGFbeta, and subsequently modulate fibroblast adhesion, migration, and growth NOT_TRANSLATED en tr HP:4000034 rdfs:label Infection-ssociated lymphopenia Infection-ssociated lymphopenia NOT_TRANSLATED +en tr HP:4000056 IAO:0000115 Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterised by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighbouring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterised by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighbouring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response NOT_TRANSLATED en tr HP:4000058 IAO:0000115 A type of proteinuria characterized by increased permeability of the glomerular capillary wall to macromolecules (particularly albumin), whereby protein excretion can reach 20 g/24 h and consists mainly of albumin. nPMID: 19634399 A type of proteinuria characterized by increased permeability of the glomerular capillary wall to macromolecules (particularly albumin), whereby protein excretion can reach 20 g/24 h and consists mainly of albumin. nPMID: 19634399 NOT_TRANSLATED en tr HP:4000069 IAO:0000115 A type of abnormal interest characterized by a persistent and intense focus in parts of a toy/object. For examples, affected individuals may spin the wheels on a toy car rather than driving the toy car A type of abnormal interest characterized by a persistent and intense focus in parts of a toy/object. For examples, affected individuals may spin the wheels on a toy car rather than driving the toy car NOT_TRANSLATED en tr HP:4000070 rdfs:label Circumscribed interests Circumscribed interests NOT_TRANSLATED diff --git a/src/translations/hp-tr-not-translated.babelon.tsv b/src/translations/hp-tr-not-translated.babelon.tsv index d7d49bc1b..193440e04 100644 --- a/src/translations/hp-tr-not-translated.babelon.tsv +++ b/src/translations/hp-tr-not-translated.babelon.tsv @@ -5540,7 +5540,7 @@ en tr HP:0034990 rdfs:label Shoulder abduction contracture NOT_TRANSLATED en tr HP:0034991 rdfs:label Shoulder external rotation contracture NOT_TRANSLATED en tr HP:0034992 rdfs:label Thumb adduction contracture NOT_TRANSLATED en tr HP:0034993 rdfs:label Hip internal rotation contracture NOT_TRANSLATED -en tr HP:0034995 rdfs:label Reduced hepatic fructose-1,6-bisphosphatase activity NOT_TRANSLATED +en tr HP:0034995 rdfs:label Reduced tissue fructose-1,6-bisphosphatase activity NOT_TRANSLATED en tr HP:0034996 rdfs:label Reduced hepatic carbamoylphosphate synthetase 1 activity NOT_TRANSLATED en tr HP:0034997 rdfs:label Reduced intraepidermal small nerve fiber density NOT_TRANSLATED en tr HP:0034998 rdfs:label Femoral artery duplication NOT_TRANSLATED @@ -6265,6 +6265,14 @@ en tr HP:0430139 rdfs:label Positive CSF pathogen-specific antibody positivity en tr HP:0430140 rdfs:label Positive CSF nucleic acid pathogen test NOT_TRANSLATED en tr HP:0430141 rdfs:label Positive CSF varicella zoster antibody positivity NOT_TRANSLATED en tr HP:0430142 rdfs:label Reduced circulating interleukin 6 concentration NOT_TRANSLATED +en tr HP:0430143 rdfs:label Elevated circulating C12 acylcarnitine concentration NOT_TRANSLATED +en tr HP:0430144 rdfs:label Frontalis muscle overactivity NOT_TRANSLATED +en tr HP:0430145 rdfs:label Nasal dermoid cyst NOT_TRANSLATED +en tr HP:0430146 rdfs:label Elevated circulating complement C3 concentration NOT_TRANSLATED +en tr HP:0430147 rdfs:label Abnormal circulating inhibin B concentration NOT_TRANSLATED +en tr HP:0430148 rdfs:label Abnormal circulating lipoprotein(a) concentration NOT_TRANSLATED +en tr HP:0430150 rdfs:label Positive blood infectious agent test NOT_TRANSLATED +en tr HP:0430151 rdfs:label Positive respiratory tract infectious agent test NOT_TRANSLATED en tr HP:0500180 rdfs:label Abnormal circulating amino sulfonic acid concentration Abnormal circulating amino sulfonic acid concentration NOT_TRANSLATED en tr HP:0500181 IAO:0000115 An increased amount of taurine in the blood An increased amount of taurine in the blood NOT_TRANSLATED en tr HP:0500181 rdfs:label Hypertaurinemia Hypertaurinemia NOT_TRANSLATED @@ -6898,9 +6906,9 @@ en tr HP:5200013 rdfs:label Ambiguous facial expression NOT_TRANSLATED en tr HP:5200014 rdfs:label Exaggerated facial expression NOT_TRANSLATED en tr HP:5200015 rdfs:label Muted facial expression NOT_TRANSLATED en tr HP:5200016 rdfs:label Abnormal peer relationships NOT_TRANSLATED -en tr HP:5200017 rdfs:label Abnormal movements of face and head NOT_TRANSLATED -en tr HP:5200018 rdfs:label Abnormal movements of the upper extremities NOT_TRANSLATED -en tr HP:5200019 rdfs:label Abnormal movements of the whole body NOT_TRANSLATED +en tr HP:5200017 rdfs:label Steroetypic movements of face and head NOT_TRANSLATED +en tr HP:5200018 rdfs:label Steroetypic upper-extremity movements NOT_TRANSLATED +en tr HP:5200019 rdfs:label Stereotypic whole-body movements NOT_TRANSLATED en tr HP:5200020 rdfs:label Abnormal interest in others NOT_TRANSLATED en tr HP:5200021 rdfs:label Reduced social insight NOT_TRANSLATED en tr HP:5200022 rdfs:label Reduced awareness of convention NOT_TRANSLATED @@ -6912,7 +6920,7 @@ en tr HP:5200029 rdfs:label Social disinhibition NOT_TRANSLATED en tr HP:5200030 rdfs:label Diminished integration of verbal and non-verbal communicative behavior NOT_TRANSLATED en tr HP:5200035 rdfs:label Reduced cooperative imaginative play NOT_TRANSLATED en tr HP:5200036 rdfs:label Reduced responsiveness to verbal cues NOT_TRANSLATED -en tr HP:5200037 rdfs:label Lack of expressed empath NOT_TRANSLATED +en tr HP:5200037 rdfs:label Lack of expressed empathy NOT_TRANSLATED en tr HP:5200038 rdfs:label Bradylalia NOT_TRANSLATED en tr HP:5200039 rdfs:label Excessively loud speech NOT_TRANSLATED en tr HP:5200040 rdfs:label Excessively quiet voice NOT_TRANSLATED @@ -7002,7 +7010,7 @@ en tr HP:5200231 rdfs:label Hypervigilance NOT_TRANSLATED en tr HP:5200232 rdfs:label Phobia NOT_TRANSLATED en tr HP:5200233 rdfs:label Anticipatory anxiety NOT_TRANSLATED en tr HP:5200234 rdfs:label Flight of ideas NOT_TRANSLATED -en tr HP:5200235 rdfs:label Thought disorder NOT_TRANSLATED +en tr HP:5200235 rdfs:label Disorganized speech or communication NOT_TRANSLATED en tr HP:5200237 rdfs:label Pronunciation difficulties NOT_TRANSLATED en tr HP:5200238 rdfs:label Vowel expressive impediment NOT_TRANSLATED en tr HP:5200239 rdfs:label Consonant expressive impediment NOT_TRANSLATED @@ -7348,7 +7356,7 @@ en tr HP:6000227 rdfs:label Prosthetic heart valve NOT_TRANSLATED en tr HP:6000228 rdfs:label Failure to increase oxygen saturation on hyperoxia test NOT_TRANSLATED en tr HP:6000229 rdfs:label High-set nipples NOT_TRANSLATED en tr HP:6000230 rdfs:label Decreased muscle caveolin-3 level NOT_TRANSLATED -en tr HP:6000231 rdfs:label Abnormal tissue enzyme activity NOT_TRANSLATED +en tr HP:6000231 rdfs:label Abnormal tissue enzyme concentration or activity NOT_TRANSLATED en tr HP:6000232 rdfs:label Splenic necrosis NOT_TRANSLATED en tr HP:6000233 rdfs:label Carcinoid tumor of the pancreas NOT_TRANSLATED en tr HP:6000234 rdfs:label Elevated circulating dihydroxyphenylacetic acid concentration NOT_TRANSLATED @@ -7566,5 +7574,250 @@ en tr HP:6000445 rdfs:label Elevated thallium cadmiun concentration NOT_TRANSLA en tr HP:6000446 rdfs:label Abnormal circulating CC chemokine concentration NOT_TRANSLATED en tr HP:6000447 rdfs:label Decreased CSF asialotransferrin to transferrin ratio NOT_TRANSLATED en tr HP:6000448 rdfs:label Anti-desmocollin antibody positivity NOT_TRANSLATED +en tr HP:6000449 rdfs:label Occupational exposure to raw nonsynthetic textiles NOT_TRANSLATED +en tr HP:6000450 rdfs:label Rokitansky-Aschoff gallbladder sinuses NOT_TRANSLATED +en tr HP:6000451 rdfs:label Porcelain gallbladder NOT_TRANSLATED +en tr HP:6000452 rdfs:label Gallbladder adhesions NOT_TRANSLATED +en tr HP:6000453 rdfs:label Bilioduodenal fistula NOT_TRANSLATED +en tr HP:6000454 rdfs:label Pneumobilia NOT_TRANSLATED +en tr HP:6000455 rdfs:label Ectopic gallstone NOT_TRANSLATED +en tr HP:6000456 rdfs:label Sleep drunkeness NOT_TRANSLATED +en tr HP:6000457 rdfs:label Mallory bodies NOT_TRANSLATED +en tr HP:6000458 rdfs:label Sulfur-containing abscess NOT_TRANSLATED +en tr HP:6000459 rdfs:label Retracted tympanic membrane NOT_TRANSLATED +en tr HP:6000460 rdfs:label Ectopic testis NOT_TRANSLATED +en tr HP:6000461 rdfs:label Cerebral subcortical cyst NOT_TRANSLATED +en tr HP:6000462 rdfs:label Anti-ADAMTS13 antibody positivity NOT_TRANSLATED +en tr HP:6000463 rdfs:label Habitual mouth breathing NOT_TRANSLATED +en tr HP:6000464 rdfs:label Squared off shoulders NOT_TRANSLATED +en tr HP:6000465 rdfs:label Elevated urine mesaconic acid level NOT_TRANSLATED +en tr HP:6000466 rdfs:label Elevated urine 3-methyladipic acid level NOT_TRANSLATED +en tr HP:6000467 rdfs:label Elevated urine D-lactate level NOT_TRANSLATED +en tr HP:6000468 rdfs:label Elevated CSF alpha-ketoglutarate concentration NOT_TRANSLATED +en tr HP:6000469 rdfs:label Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level NOT_TRANSLATED +en tr HP:6000470 rdfs:label Fetal oral mass NOT_TRANSLATED +en tr HP:6000471 rdfs:label Dilated ejaculatory duct NOT_TRANSLATED +en tr HP:6000472 rdfs:label Decreased Wiskott-Aldrich syndrome protein concentration in hematopoietic cells NOT_TRANSLATED +en tr HP:6000473 rdfs:label Decreased FOXP3-expressing T cell count NOT_TRANSLATED +en tr HP:6000474 rdfs:label Elevated circulating complement component concentration NOT_TRANSLATED +en tr HP:6000475 rdfs:label Anti-beta fodrin antibody positivity NOT_TRANSLATED +en tr HP:6000476 rdfs:label Elevated circulating tetradecenoylcarnitine concentration NOT_TRANSLATED +en tr HP:6000477 rdfs:label Elevated urine 2-trans,4-cis-decadienoylcarnitine level NOT_TRANSLATED +en tr HP:6000478 rdfs:label Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration NOT_TRANSLATED +en tr HP:6000479 rdfs:label Elevated urine N-acetyltyrosine level NOT_TRANSLATED +en tr HP:6000480 rdfs:label Elevated urine manganese level NOT_TRANSLATED +en tr HP:6000481 rdfs:label Reduced urinary manganese level NOT_TRANSLATED +en tr HP:6000482 rdfs:label Decreased circulating catecholamine concentration NOT_TRANSLATED +en tr HP:6000483 rdfs:label Empty sella turcica NOT_TRANSLATED +en tr HP:6000484 rdfs:label Elevated brain guanidinoacetate level by MRS NOT_TRANSLATED +en tr HP:6000485 rdfs:label Elevated circulating beta chorionic gonadotropin concentration NOT_TRANSLATED +en tr HP:6000486 rdfs:label Elevated circulating CXCL10 concentration NOT_TRANSLATED +en tr HP:6000487 rdfs:label Reduced circulating interleukin 12 concentration NOT_TRANSLATED +en tr HP:6000488 rdfs:label Reduced circulating fibroblast growth factor 23 concentration NOT_TRANSLATED +en tr HP:6000489 rdfs:label Abnormal circulating fibroblast growth factor 23 concentration NOT_TRANSLATED +en tr HP:6000490 rdfs:label Impaired heel-walking ability NOT_TRANSLATED +en tr HP:6000491 rdfs:label Anti-prothrombin antibody positivity NOT_TRANSLATED +en tr HP:6000492 rdfs:label Anti-factor V antibody positivity NOT_TRANSLATED +en tr HP:6000493 rdfs:label Anti-factor VII antibody positivity NOT_TRANSLATED +en tr HP:6000494 rdfs:label Anti-factor VIII antibody positivity NOT_TRANSLATED +en tr HP:6000495 rdfs:label Anti-factor IX antibody positivity NOT_TRANSLATED +en tr HP:6000496 rdfs:label Anti-factor X antibody positivity NOT_TRANSLATED +en tr HP:6000497 rdfs:label Anti-factor XI antibody positivity NOT_TRANSLATED +en tr HP:6000498 rdfs:label Anti-factor XIII antibody positivity NOT_TRANSLATED +en tr HP:6000499 rdfs:label Anti-factor H antibody positivity NOT_TRANSLATED +en tr HP:6000500 rdfs:label Extremities cold to touch NOT_TRANSLATED +en tr HP:6000501 rdfs:label Ruffled acrosome NOT_TRANSLATED +en tr HP:6000502 rdfs:label Elevated circulating calprotectin concentration NOT_TRANSLATED +en tr HP:6000503 rdfs:label 4-5 toe cutaneous syndactyly NOT_TRANSLATED +en tr HP:6000504 rdfs:label Poly-hill sign NOT_TRANSLATED +en tr HP:6000505 rdfs:label 3-5 finger cutaneous syndactyly NOT_TRANSLATED +en tr HP:6000506 rdfs:label Radioulnar subluxation NOT_TRANSLATED +en tr HP:6000507 rdfs:label Non-pitting edema NOT_TRANSLATED +en tr HP:6000508 rdfs:label Anti-human ferritin peptide antibody positivity NOT_TRANSLATED +en tr HP:6000509 rdfs:label Elevated CSF L-2-hydroxyglutaric acid concentration NOT_TRANSLATED +en tr HP:6000510 rdfs:label Elevated erythrocyte inosine triphosphate concentration NOT_TRANSLATED +en tr HP:6000511 rdfs:label Reduced erythrocyte inosine triphosphatase activity NOT_TRANSLATED +en tr HP:6000512 rdfs:label Reduced circulating alpha-1,3-fucosyltransferase activity NOT_TRANSLATED +en tr HP:6000513 rdfs:label Diminished neutrophil myeloperoxidase activity NOT_TRANSLATED +en tr HP:6000514 rdfs:label Reduced erythrocyte uroporphyrinogen III cosynthase activity NOT_TRANSLATED +en tr HP:6000515 rdfs:label Elevated 18-hydroxycorticosterone to aldosterone ratio NOT_TRANSLATED +en tr HP:6000516 rdfs:label Elevated circulating 21-deoxycortisol concentration NOT_TRANSLATED +en tr HP:6000517 rdfs:label Elevated monolysocardiolipin/cardiolipin ratio NOT_TRANSLATED +en tr HP:6000518 rdfs:label Low maternal vitamin B12 concentration NOT_TRANSLATED +en tr HP:6000519 rdfs:label Elevated circulating inhibin A concentration NOT_TRANSLATED +en tr HP:6000520 rdfs:label Increased circulating inhibin B concentration NOT_TRANSLATED +en tr HP:6000521 rdfs:label Elevated circulating lipoprotein(a) concentration NOT_TRANSLATED +en tr HP:6000522 rdfs:label Reduced circulating lipoprotein(a) concentration NOT_TRANSLATED +en tr HP:6000523 rdfs:label Increased urinary bile acid level NOT_TRANSLATED +en tr HP:6000524 rdfs:label Abnormal urinary bile acid level NOT_TRANSLATED +en tr HP:6000525 rdfs:label Reduced erythrocyte glutathione reductase activity NOT_TRANSLATED +en tr HP:6000526 rdfs:label Failure to elevate lactate upon ischemic exercise test NOT_TRANSLATED +en tr HP:6000527 rdfs:label Elevated circulating cholestanol concentration NOT_TRANSLATED +en tr HP:6000528 rdfs:label Livestock exposure NOT_TRANSLATED +en tr HP:6000529 rdfs:label Synchronous skin lesions NOT_TRANSLATED +en tr HP:6000530 rdfs:label Serpentine skin location NOT_TRANSLATED +en tr HP:6000531 rdfs:label Abnormal urinary organic compound level NOT_TRANSLATED +en tr HP:6000532 rdfs:label Elevated urinary histamine level NOT_TRANSLATED +en tr HP:6000533 rdfs:label Elevated urinary N-methylhistamine level NOT_TRANSLATED +en tr HP:6000534 rdfs:label Elevated urinary ureidopropionic acid level NOT_TRANSLATED +en tr HP:6000535 rdfs:label Elevated urinary porphyrin level NOT_TRANSLATED +en tr HP:6000536 rdfs:label Elevated urinary coproporphyrin level NOT_TRANSLATED +en tr HP:6000537 rdfs:label Ecrrine sweat gland predominance NOT_TRANSLATED +en tr HP:6000538 rdfs:label Poorly demarcated skin lesion NOT_TRANSLATED +en tr HP:6000539 rdfs:label History of recent cat bite NOT_TRANSLATED +en tr HP:6000540 rdfs:label History of recent stay in area with inadequate sewage sanitation NOT_TRANSLATED +en tr HP:6000541 rdfs:label Positive cutaneous herpes simplex virus nucleic acid test NOT_TRANSLATED +en tr HP:6000542 rdfs:label Positive CSF mycobacterium tuberculosis nucleic acid test NOT_TRANSLATED +en tr HP:6000543 rdfs:label Posiitive mycobacterium CSF culture NOT_TRANSLATED +en tr HP:6000544 rdfs:label Positive mycobacterium CSF microscopy NOT_TRANSLATED +en tr HP:6000545 rdfs:label Positive treponema pallidum PCR test in the blood circulation NOT_TRANSLATED +en tr HP:6000546 rdfs:label Positive human Immunodeficiency virus nucleic acid test in the blood circulation NOT_TRANSLATED +en tr HP:6000547 rdfs:label Positive CSF enterovirus nucleic acid test NOT_TRANSLATED +en tr HP:6000548 rdfs:label Positive CSF Borrelia burgdorferi nucleic acid test NOT_TRANSLATED +en tr HP:6000549 rdfs:label Positive CSF arbovirus nucleic acid test NOT_TRANSLATED +en tr HP:6000550 rdfs:label Positive Bartonella henselae nucleic acid test in the blood circulation NOT_TRANSLATED +en tr HP:6000551 rdfs:label Positive Dengue virus PCR test in the blood circulation NOT_TRANSLATED +en tr HP:6000552 rdfs:label Positive CSF JC-virus nucleic acid test NOT_TRANSLATED +en tr HP:6000553 rdfs:label Bloodstream Malaria parasite NOT_TRANSLATED +en tr HP:6000554 rdfs:label Positive bloodstream plasmodium falciparum nucleic acid pathogen test NOT_TRANSLATED +en tr HP:6000555 rdfs:label Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity NOT_TRANSLATED +en tr HP:6000556 rdfs:label Reduced circulating dopamine beta-hydroxylase activity NOT_TRANSLATED +en tr HP:6000557 rdfs:label Reduced erythrocyte bisphosphoglycerate mutase activity NOT_TRANSLATED +en tr HP:6000558 rdfs:label Reduced erythrocyte adenylate kinase activity NOT_TRANSLATED +en tr HP:6000559 rdfs:label Reduced erythrocyte hexokinase activity NOT_TRANSLATED +en tr HP:6000560 rdfs:label Decreased circulating carboxypeptidase N activity NOT_TRANSLATED +en tr HP:6000561 rdfs:label Elevated red cell pyruvate kinase activity NOT_TRANSLATED +en tr HP:6000562 rdfs:label Reduced circulating adenosine deaminase-2 activity NOT_TRANSLATED +en tr HP:6000563 rdfs:label Reduced sepiapterin reductase activity in cultured fibroblasts NOT_TRANSLATED +en tr HP:6000564 rdfs:label Elevated circulating vasoactive intestinal peptide concentration NOT_TRANSLATED +en tr HP:6000565 rdfs:label Elevated circulating cholesterol sulfate concentration NOT_TRANSLATED +en tr HP:6000566 rdfs:label Elevated circulating lipoprotein X concentration NOT_TRANSLATED +en tr HP:6000567 rdfs:label Elevated circulating oxalate concentration NOT_TRANSLATED +en tr HP:6000568 rdfs:label Elevated blood ethylene glycol concentration NOT_TRANSLATED +en tr HP:6000569 rdfs:label Midline notching of lower lip NOT_TRANSLATED +en tr HP:6000570 rdfs:label Reduced tissue thymidine phosphorylase activity NOT_TRANSLATED +en tr HP:6000571 rdfs:label Reduced tissue tripeptidyl peptidase 1 activity NOT_TRANSLATED +en tr HP:6000572 rdfs:label Reduced tissue arginine:glycine amidinotransferase activity NOT_TRANSLATED +en tr HP:6000573 rdfs:label Reduced tissue aspartylglucosaminidase activity NOT_TRANSLATED +en tr HP:6000574 rdfs:label Reduced tissue carnitine-acylcarnitine translocase activity NOT_TRANSLATED +en tr HP:6000575 rdfs:label Reduced circulating 6-pyruvoyltetrahydropterin synthase activity NOT_TRANSLATED +en tr HP:6000576 rdfs:label Reduced tissue mannosyl-oligosaccharide glucosidase activity NOT_TRANSLATED +en tr HP:6000577 rdfs:label Reduced tissue 3-methylglutaconyl-CoA hydratase activity NOT_TRANSLATED +en tr HP:6000578 rdfs:label Reduced tissue gamma-glutamyltransferase activity NOT_TRANSLATED +en tr HP:6000579 rdfs:label Positive oropharangeal infectious agent test NOT_TRANSLATED +en tr HP:6000580 rdfs:label Positive oropharynx poliovirus nucleic acid test NOT_TRANSLATED +en tr HP:6000581 rdfs:label Positive synonvial fluid infectious agent test NOT_TRANSLATED +en tr HP:6000582 rdfs:label Positive synonvial fluid culture NOT_TRANSLATED +en tr HP:6000583 rdfs:label Positive synovial fluid gram stain NOT_TRANSLATED +en tr HP:6000584 rdfs:label Anti Parvovirus antibody positivity NOT_TRANSLATED +en tr HP:6000585 rdfs:label Brain parenchymal tuberculoma NOT_TRANSLATED +en tr HP:6000586 rdfs:label Muscle arteriovenous malformation NOT_TRANSLATED +en tr HP:6000587 rdfs:label Bone arteriovenous malformation NOT_TRANSLATED +en tr HP:6000588 rdfs:label Periosteal elevation NOT_TRANSLATED +en tr HP:6000589 rdfs:label Esophageal dilation NOT_TRANSLATED +en tr HP:6000590 rdfs:label Spinal lipoma NOT_TRANSLATED +en tr HP:6000591 rdfs:label Loose body in joint NOT_TRANSLATED +en tr HP:6000592 rdfs:label Paraspinal arteriovenous malformation NOT_TRANSLATED +en tr HP:6000593 rdfs:label Supernumerary tarsal bone NOT_TRANSLATED +en tr HP:6000594 rdfs:label Maxillary cyst NOT_TRANSLATED +en tr HP:6000595 rdfs:label Mandibular cyst NOT_TRANSLATED +en tr HP:6000596 rdfs:label Sixth cranial nerve hypoplasia NOT_TRANSLATED +en tr HP:6000597 rdfs:label Third cranial nerve hypoplasia NOT_TRANSLATED +en tr HP:6000598 rdfs:label Elevated urinary succinylacetone level NOT_TRANSLATED +en tr HP:6000599 rdfs:label Elevated urinary 2-oxoisocaproic level NOT_TRANSLATED +en tr HP:6000600 rdfs:label Elevated urinary 2-oxovaleric acid level NOT_TRANSLATED +en tr HP:6000601 rdfs:label Elevated urinary 2-hydroxyisocaproic acid level NOT_TRANSLATED +en tr HP:6000602 rdfs:label Elevated urinary isovalerylglycine level NOT_TRANSLATED +en tr HP:6000603 rdfs:label Elevated urinary 2-methyl-3-hydroxybutyric acid level NOT_TRANSLATED +en tr HP:6000604 rdfs:label Elevated urinary 3-hydroxypentanoic acid level NOT_TRANSLATED +en tr HP:6000605 rdfs:label Elevated urinary 7-hydroxyoctanoic acid level NOT_TRANSLATED +en tr HP:6000606 rdfs:label Elevated urinary D-glyceric acid level NOT_TRANSLATED +en tr HP:6000607 rdfs:label Elevated urinary 3-hydroxyisobutyric acid level NOT_TRANSLATED +en tr HP:6000608 rdfs:label Elevated urinary 3,4-Dihydroxybutyric acid level NOT_TRANSLATED +en tr HP:6000609 rdfs:label Elevated urinary 3-hydroxyadipic acid level NOT_TRANSLATED +en tr HP:6000610 rdfs:label Elevated erythrocyte galactose-1-phosphate concentration NOT_TRANSLATED +en tr HP:6000611 rdfs:label Elevated circulating chitotriosidase activity NOT_TRANSLATED +en tr HP:6000612 rdfs:label Squamosal suture synostosis NOT_TRANSLATED +en tr HP:6000613 rdfs:label Enlarged fetal lungs NOT_TRANSLATED +en tr HP:6000614 rdfs:label Orbital inflammation NOT_TRANSLATED +en tr HP:6000615 rdfs:label Reduced Inositol polyphosphate 5-phosphatase OCRL-1 activity in cultured fibroblasts NOT_TRANSLATED +en tr HP:6000616 rdfs:label Reduced muscle glycogen debrancher enzyme activity NOT_TRANSLATED +en tr HP:6000617 rdfs:label Reduced tissue UDP-glucuronyl-transferase activity NOT_TRANSLATED +en tr HP:6000618 rdfs:label Temporal artery giant cells NOT_TRANSLATED +en tr HP:6000619 rdfs:label Reduced phosphoenolpyruvate carboxykinase activity in cultured fibroblasts NOT_TRANSLATED +en tr HP:6000620 rdfs:label Elevated urinary pyrroline hydroxycarboxylic acid level NOT_TRANSLATED +en tr HP:6000621 rdfs:label Elevated urinary N-tau-ribosylhistidine level NOT_TRANSLATED +en tr HP:6000622 rdfs:label Elevated urinary ureidoisobutyric acid level NOT_TRANSLATED +en tr HP:6000623 rdfs:label Elevated urinary N-carbamyl-beta-aminoisobutyric acid level NOT_TRANSLATED +en tr HP:6000624 rdfs:label Nipple epidermal Paget cells NOT_TRANSLATED +en tr HP:6000625 rdfs:label Penile corporal blood gas ischemia NOT_TRANSLATED +en tr HP:6000626 rdfs:label Recent temporal region trauma NOT_TRANSLATED +en tr HP:6000627 rdfs:label Rest limb pain NOT_TRANSLATED +en tr HP:6000628 rdfs:label Scalloped appearance of liver surface NOT_TRANSLATED +en tr HP:6000629 rdfs:label Nipple thickening NOT_TRANSLATED +en tr HP:6000630 rdfs:label Hypoechoic breast mass NOT_TRANSLATED +en tr HP:6000631 rdfs:label Unilocular ovarian cyst NOT_TRANSLATED +en tr HP:6000632 rdfs:label Mesenteric torsion NOT_TRANSLATED +en tr HP:6000633 rdfs:label High-pitched bowel sounds NOT_TRANSLATED +en tr HP:6000634 rdfs:label Exacerbated by opiate medication NOT_TRANSLATED +en tr HP:6000635 rdfs:label Breast granuloma NOT_TRANSLATED +en tr HP:6000636 rdfs:label Exposure to cosmetic fragrances NOT_TRANSLATED +en tr HP:6000637 rdfs:label Sweating and flushing in the preauricular area in response to mastication NOT_TRANSLATED +en tr HP:6000638 rdfs:label Reduced hepatic glyoxylate reductase activity NOT_TRANSLATED +en tr HP:6000639 rdfs:label PAS-positive lymphocyte vacuolization NOT_TRANSLATED +en tr HP:6000640 rdfs:label Lipid-laden bone-marrow macrophages NOT_TRANSLATED +en tr HP:6000641 rdfs:label Bone marrow monocytosis NOT_TRANSLATED +en tr HP:6000642 rdfs:label Sunflower cataract NOT_TRANSLATED +en tr HP:6000643 rdfs:label Anti-lamin A antibody positivity NOT_TRANSLATED +en tr HP:6000644 rdfs:label Anti-lamin C antibody positivity NOT_TRANSLATED +en tr HP:6000645 rdfs:label Anti-vinculin antibody positivity NOT_TRANSLATED +en tr HP:6000646 rdfs:label Anti-annexin A5 antibody positivity NOT_TRANSLATED +en tr HP:6000647 rdfs:label Bulging fontanelle NOT_TRANSLATED +en tr HP:6000648 rdfs:label 3-4 toe cutaneous syndactyly NOT_TRANSLATED +en tr HP:6000649 rdfs:label Triangular nail NOT_TRANSLATED +en tr HP:6000650 rdfs:label Distal tibiofibular synostosis NOT_TRANSLATED +en tr HP:6000651 rdfs:label Abnormal metacarpal ossification NOT_TRANSLATED +en tr HP:6000652 rdfs:label Rib spur NOT_TRANSLATED +en tr HP:6000653 rdfs:label Crescent-shaped iliac bone NOT_TRANSLATED +en tr HP:6000654 rdfs:label Abnormal ischium ossification NOT_TRANSLATED +en tr HP:6000655 rdfs:label Femoral neck fracture NOT_TRANSLATED +en tr HP:6000656 rdfs:label Papillary dermis eosinophilic hyaline material NOT_TRANSLATED +en tr HP:6000657 rdfs:label Pancreatic intraductal papillary mucinous neoplasm NOT_TRANSLATED +en tr HP:6000658 rdfs:label Medium vessel vasculitis NOT_TRANSLATED +en tr HP:6000659 rdfs:label Elevated muscle fiber laminin alpha 5 expression NOT_TRANSLATED +en tr HP:6000660 rdfs:label Paravertebral mass NOT_TRANSLATED +en tr HP:6000661 rdfs:label Phlebolith NOT_TRANSLATED +en tr HP:6000662 rdfs:label Bladder rupture NOT_TRANSLATED +en tr HP:6000663 rdfs:label Elevated myocardial iron load NOT_TRANSLATED +en tr HP:6000664 rdfs:label Right ventricular regional wall motion abnormality NOT_TRANSLATED +en tr HP:6000665 rdfs:label Right ventricular regional akinesia NOT_TRANSLATED +en tr HP:6000666 rdfs:label Right ventricular regional dyskinesia NOT_TRANSLATED +en tr HP:6000667 rdfs:label Right ventricular aneurysm NOT_TRANSLATED +en tr HP:6000668 rdfs:label Glomerular immune-complex deposition NOT_TRANSLATED +en tr HP:6000669 rdfs:label Glomerular PLA2R immune-complex deposition NOT_TRANSLATED +en tr HP:6000670 rdfs:label Elevated urinary L-glycerate level NOT_TRANSLATED +en tr HP:6000671 rdfs:label Breast myxoma NOT_TRANSLATED +en tr HP:6000672 rdfs:label Ovarian cystadenoma NOT_TRANSLATED +en tr HP:6000673 rdfs:label Abnormal CSF N-acetylaspartic acid concentration NOT_TRANSLATED +en tr HP:6000674 rdfs:label Decreased CSF N-acetylaspartic acid concentration NOT_TRANSLATED +en tr HP:6000675 rdfs:label Elevated urinary mevalonate lactone level NOT_TRANSLATED +en tr HP:6000676 rdfs:label Anti-von Willebrand factor antibody positivity NOT_TRANSLATED +en tr HP:6000677 rdfs:label Elevated natural killer cell count NOT_TRANSLATED +en tr HP:6000678 rdfs:label Myositis-specific autoantibody positivity NOT_TRANSLATED +en tr HP:6000679 rdfs:label Abnormal serum osmolality NOT_TRANSLATED +en tr HP:6000680 rdfs:label Low serum osmolality NOT_TRANSLATED +en tr HP:6000681 rdfs:label High serum osmolality NOT_TRANSLATED +en tr HP:6000682 rdfs:label History of compressive dressings NOT_TRANSLATED +en tr HP:6000683 rdfs:label Triggered by overhead motions NOT_TRANSLATED +en tr HP:6000684 rdfs:label Radiating pain NOT_TRANSLATED +en tr HP:6000685 rdfs:label Mitral opening snap NOT_TRANSLATED +en tr HP:6000686 rdfs:label Mucus in stool NOT_TRANSLATED +en tr HP:6000687 rdfs:label Elevated circulating CCL3 concentration NOT_TRANSLATED +en tr HP:6000688 rdfs:label Elevated circulating CCL4 concentration NOT_TRANSLATED +en tr HP:6000689 rdfs:label Elevated CSF 14-3-3 protein concentration NOT_TRANSLATED +en tr HP:6000690 rdfs:label Elevated CSF dihydrobiopterin concentration NOT_TRANSLATED +en tr HP:6000691 rdfs:label Left atrial fibrosis NOT_TRANSLATED +en tr HP:6000692 rdfs:label Abnormal circulating atrial natriuretic peptide pro-hormone concentration NOT_TRANSLATED +en tr HP:6000693 rdfs:label Reduced circulating NT-proANP concentration NOT_TRANSLATED en tr RO:0000052 rdfs:label inheres in NOT_TRANSLATED en tr RO:0002314 rdfs:label inheres in part of NOT_TRANSLATED diff --git a/src/translations/hp-tr-preprocessed.babelon.tsv b/src/translations/hp-tr-preprocessed.babelon.tsv index 4c917b886..c1c181ce9 100644 --- a/src/translations/hp-tr-preprocessed.babelon.tsv +++ b/src/translations/hp-tr-preprocessed.babelon.tsv @@ -612,7 +612,7 @@ en tr HP:0000413 rdfs:label Atresia of the external auditory canal Dış kulak y en tr HP:0000414 IAO:0000115 Increased volume and globular shape of the anteroinferior aspect of the nose. Burnun anteroinferior kısmının artmış hacmi ve küresel şekli OFFICIAL en tr HP:0000414 rdfs:label Bulbous nose Soğansı burun OFFICIAL en tr HP:0000415 IAO:0000115 Abnormality of the choanae (the posterior nasal apertures). Koana (posterior burun açıklığı) anormalliği OFFICIAL -en tr HP:0000415 rdfs:label Abnormality of the choanae Koana anormalliği OFFICIAL +en tr HP:0000415 rdfs:label Abnormal choanae morphology Koana anormalliği CANDIDATE en tr HP:0000417 rdfs:label Slender nose İnce burun OFFICIAL en tr HP:0000418 IAO:0000115 Decreased width of the nasal ridge. Azalmış burun sırtı genişliği OFFICIAL en tr HP:0000418 rdfs:label Narrow nasal ridge Dar burun sırtı OFFICIAL @@ -795,7 +795,7 @@ en tr HP:0000541 IAO:0000115 Separation of the inner layers of the retina (neura en tr HP:0000541 rdfs:label Retinal detachment Retina dekolmanı OFFICIAL en tr HP:0000542 IAO:0000115 Reduced ability to move the eye in the direction of the nose. Gözleri burun yönünde hareket etmede azalmış kabiliyet OFFICIAL en tr HP:0000542 rdfs:label Impaired ocular adduction Bozulmuş oküler adduksiyon OFFICIAL -en tr HP:0000543 IAO:0000115 A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. Optik diskin (retinadaki optik sinir başı alanı) soluk sarı bir renk alması. Optik disk normalde ortasında sarımsı basıklık olan pembemsi bir tona sahiptir OFFICIAL +en tr HP:0000543 IAO:0000115 A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. Optik diskin (retinadaki optik sinir başı alanı) soluk sarı bir renk alması. Optik disk normalde ortasında sarımsı basıklık olan pembemsi bir tona sahiptir CANDIDATE en tr HP:0000543 rdfs:label Optic disc pallor Optik disk solgunluğu OFFICIAL en tr HP:0000544 IAO:0000115 Paralysis of the external ocular muscles. Dış oküler kasların paralizisi OFFICIAL en tr HP:0000544 rdfs:label External ophthalmoplegia Dış oftalmopleji OFFICIAL @@ -981,7 +981,7 @@ en tr HP:0000654 IAO:0000115 Descreased amplitude of eletrical response upon ele en tr HP:0000654 rdfs:label Decreased light- and dark-adapted electroretinogram amplitude Azalmış ışık ve karanlık adaptasyonlu elektroretinogram genliği OFFICIAL en tr HP:0000656 IAO:0000115 An outward turning (eversion) or rotation of the eyelid margin. Göz kapağı sınırının dışa doğru dönmesi (eversiyon) OFFICIAL en tr HP:0000656 rdfs:label Ectropion Ektropiyon OFFICIAL -en tr HP:0000657 IAO:0000115 Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex. Oküler motor apraksi istemli, yatay, yan, yavaş takip hareketlerinin korunduğu hızlı göz hareketlerindeki (salınımlar) eksikliklerdir. Görsel olarak nesneleri takip etmedeki yetenek sıklıkla kafa hareketleri ile telafi edilmektedir. Düz takipte azalma ve vestibülo-oküler refleksin ortadan kalkması olabilir OFFICIAL +en tr HP:0000657 IAO:0000115 Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex. Oküler motor apraksi istemli, yatay, yan, yavaş takip hareketlerinin korunduğu hızlı göz hareketlerindeki (salınımlar) eksikliklerdir. Görsel olarak nesneleri takip etmedeki yetenek sıklıkla kafa hareketleri ile telafi edilmektedir. Düz takipte azalma ve vestibülo-oküler refleksin ortadan kalkması olabilir CANDIDATE en tr HP:0000657 rdfs:label Oculomotor apraxia Okülomotor apraksi OFFICIAL en tr HP:0000658 rdfs:label Eyelid apraxia Göz kapağı apraksisi OFFICIAL en tr HP:0000659 IAO:0000115 A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity. Anormal ön kamara yarıklanmasının olduğu bir ön segment disgenezi formudur. Peters anomalisi merkezi, parasantral veya tam korneal opasite ile karakterizedir OFFICIAL @@ -1017,7 +1017,7 @@ en tr HP:0000680 IAO:0000115 Delayed tooth eruption affecting the primary dentit en tr HP:0000680 rdfs:label Delayed eruption of primary teeth Süt dişlerinin çıkmasının gecikmesi OFFICIAL en tr HP:0000682 IAO:0000115 An abnormality of the dental enamel. Diş minesinin bir anormalliği OFFICIAL en tr HP:0000682 rdfs:label Abnormal dental enamel morphology Diş minesi anormalliği CANDIDATE -en tr HP:0000683 IAO:0000115 A grey discoloration of the dental enamel. Diş minesinin grimsi renk değişikliği OFFICIAL +en tr HP:0000683 IAO:0000115 A gray discoloration of the dental enamel. Diş minesinin grimsi renk değişikliği CANDIDATE en tr HP:0000683 rdfs:label Grayish enamel Grimsi diş minesi OFFICIAL en tr HP:0000684 IAO:0000115 Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age. Gecikmiş dış çıkması, diş çıkmasının ortalama çıkma yaşından 2 SD daha fazla olması olarak tanımlanabilir OFFICIAL en tr HP:0000684 rdfs:label Delayed eruption of teeth Dişlerin çıkmasının gecikmesi OFFICIAL @@ -1088,7 +1088,7 @@ en tr HP:0000729 IAO:0000115 Persistent deficits in social interaction and commu en tr HP:0000729 rdfs:label Autistic behavior Otistik davranış OFFICIAL en tr HP:0000732 rdfs:label Inflexible adherence to routines Rutin veya ritüellere katı bağlılık CANDIDATE en tr HP:0000733 IAO:0000115 Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose. Stereotipi istemli olarak baskılanabilen tekrarlayan, basit harekettir. Stereotipiler sallanma, el veya kolları çırpma gibi tipik olarak basit ileri ve geri hareketlerdir ve karmaşık diziler veya hareket bölümlerini içermez. Hareket sıklıkla ama her zaman olmayan şekilde ritmiktir ve parmakları, el bileklerini veya üst ekstremitenin daha proksimal kısımlarını içerebilir. Alt ekstremite tipik olarak dahil olmaz. Stereotipiler tek taraflı olmaktan ziyade çoğunlukla iki taraflıdır CANDIDATE -en tr HP:0000733 rdfs:label Abnormal repetitive mannerisms Stereotipi CANDIDATE +en tr HP:0000733 rdfs:label Motor stereotypy Stereotipi CANDIDATE en tr HP:0000734 IAO:0000115 Reduced ability to control, or a failure to resist a temptation, urge, or impulse. Examples include disregard for social conventions, general impulsivity, and poor risk assessment. Sosyal adetlere aldırmama, dürtüsellik ve zayıf risk değerlendirmesi gibi çeşitli yollarla belirti veren bir kısıtlama eksikliği CANDIDATE en tr HP:0000734 rdfs:label Disinhibition Disinhibisyon OFFICIAL en tr HP:0000735 IAO:0000115 Difficulty in social interactions related to an impairment of characteristics such as eye contact, smiling, appropriate facial expressions, and body postures and characterized by difficulty in forming peer relationships and forming friendships Göz teması, gülümseme, uygun yüz ifadesi ve vücut postürü gibi karakteristiklerin bozulması ile ilişkili sosyal etkileşimlerde zorluk ve akran ilişkisi kurmada ve arkadaşlık kurmada zorluk ile karakterizedir OFFICIAL @@ -1789,7 +1789,7 @@ en tr HP:0001248 IAO:0000115 Decreased length of the tubular bones of the hand, en tr HP:0001248 rdfs:label Short tubular bones of the hand Elin kısa tübüler kemikleri OFFICIAL en tr HP:0001249 IAO:0000115 Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70. Gelişimsel dönem esnasında köken alan normalin altında entellektüel fonsiyon. Entellektüel yetersizlik, önceden zeka geriliği olarak anılıyordu, IQ skorlarının 70'in altında olması olarak tanımlanmaktadır CANDIDATE en tr HP:0001249 rdfs:label Intellectual disability Entellektüel yetersizlik OFFICIAL -en tr HP:0001250 IAO:0000115 A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Nöbetler ani, aşırı, hastalık düzeyindeki serebral nöronların boşalımı nedeniyle oluşan klinik olarak his bozukluğu, bilinç kaybı, fiziksel fonksiyon bozukluğu veya konvulzif hareketler kombinasyonu ile karakterize merkezi sinir sisteminin aralar ile gerçekleşen anormalliğidir. Epilepsi terimi kronik, tekrar eden nöbetleri tanımlamak için kullanılmaktadır CANDIDATE +en tr HP:0001250 IAO:0000115 A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Nöbetler ani, aşırı, hastalık düzeyindeki serebral nöronların boşalımı nedeniyle oluşan klinik olarak his bozukluğu, bilinç kaybı, fiziksel fonksiyon bozukluğu veya konvulzif hareketler kombinasyonu ile karakterize merkezi sinir sisteminin aralar ile gerçekleşen anormalliğidir. Epilepsi terimi kronik, tekrar eden nöbetleri tanımlamak için kullanılmaktadır CANDIDATE en tr HP:0001250 rdfs:label Seizure Nöbetler CANDIDATE en tr HP:0001251 IAO:0000115 Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). Serebellar ataksi beyincik disfonksiyonu nedenli olan ataksiye denir. Bu asinerji (kaslar, üyeler ve eklemler arasında koordinasyon eksikliği), dismetri (yakalama hareketlerinde fazla veya az pas geçmeye neden olan mesafe muhakemesinde eksiklik) ve disdiadokinezi (tekrarlayan şekilde birbirine antagonize eden kas gruplarını açıp kapamayı gerektiren hızlı hareketleri sergilemede yetersizlik) gibi bir dizi temel nörolojik eksikliğe neden olur CANDIDATE en tr HP:0001251 rdfs:label Ataxia Ataksi OFFICIAL @@ -2599,7 +2599,7 @@ en tr HP:0001898 IAO:0000115 The presence of an increased mass of red blood cell en tr HP:0001898 rdfs:label Increased red blood cell mass Artmış kırmızı kan hücresi kütlesi OFFICIAL en tr HP:0001899 IAO:0000115 An elevation above the normal ratio of the volume of red blood cells to the total volume of blood. Bir kan örneğindeki paketlenmiş eritrosit hacminde bir artış OFFICIAL en tr HP:0001899 rdfs:label Increased hematocrit Artmış hematokrit OFFICIAL -en tr HP:0001900 rdfs:label Increased hemoglobin Artmış hemoglobin OFFICIAL +en tr HP:0001900 rdfs:label Increased circulating hemoglobin concentration Artmış hemoglobin CANDIDATE en tr HP:0001901 IAO:0000115 Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal. Eğer kırmızı kan sayımı, hemoglobin seviyesi ve kırmızı kan hücresi hacminin hepsi normal aralığın üst limitini aşarsa polisitemi tanısı koyulur OFFICIAL en tr HP:0001901 rdfs:label Polycythemia Polistemi OFFICIAL en tr HP:0001902 IAO:0000115 Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998). Dev trombositler 7 mikrometreden büyüktür ve genellikle 10 ila 20 mikrometredir. Dev trombosit terimi, trombosit alanda ortalama kırmızı hücre boyutundan büyük olduğunda kullanılır. (Açıklama Amerikan Patologlar Kolejinden uyarlanmış, Hematoloji kılavuzu, 1998) OFFICIAL @@ -2928,9 +2928,9 @@ en tr HP:0002119 IAO:0000115 An increase in size of the ventricular system of th en tr HP:0002119 rdfs:label Ventriculomegaly Ventrikülomegali OFFICIAL en tr HP:0002120 IAO:0000115 Atrophy of the cortex of the cerebrum. Serebrum korteksinin atrofisi OFFICIAL en tr HP:0002120 rdfs:label Cerebral cortical atrophy Serebral kortikal atrofi OFFICIAL -en tr HP:0002121 IAO:0000115 A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. Absans nöbetleri hareket ve uyanıklığın ani kesilmesi ile kendini gösterir. Absans nöbetleri genç yaş gruplarında meydana gelmeye eğimlidir, daha erken başlangıç ve bitişe sahiptir ve bozulmuş uyanıklık ile olan fokal nöbetlerin gösterdiğinden daha az karmaşık fakat ayrımının mutlak olmadığı otomatizmalar sergiler CANDIDATE +en tr HP:0002121 IAO:0000115 A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. Absans nöbetleri hareket ve uyanıklığın ani kesilmesi ile kendini gösterir. Absans nöbetleri genç yaş gruplarında meydana gelmeye eğimlidir, daha erken başlangıç ve bitişe sahiptir ve bozulmuş uyanıklık ile olan fokal nöbetlerin gösterdiğinden daha az karmaşık fakat ayrımının mutlak olmadığı otomatizmalar sergiler CANDIDATE en tr HP:0002121 rdfs:label Generalized non-motor (absence) seizure Absans nöbetleri CANDIDATE -en tr HP:0002123 IAO:0000115 A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. Kas(lar) ın veya değişik topografideki (aksiyal, proksimal uzuv, distal) kas gruplarının ani, kısa (<100 ms) istemsiz tek veya çoklu kasılması(ları) ile olan nöbetler CANDIDATE +en tr HP:0002123 IAO:0000115 A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. Kas(lar) ın veya değişik topografideki (aksiyal, proksimal uzuv, distal) kas gruplarının ani, kısa (<100 ms) istemsiz tek veya çoklu kasılması(ları) ile olan nöbetler CANDIDATE en tr HP:0002123 rdfs:label Generalized myoclonic seizure Genelleştirilmiş miyoklonik nöbetler CANDIDATE en tr HP:0002126 IAO:0000115 Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds). Beyin yüzeyindeki aşırı sayıda küçük giruslar (kıvrımlar) ile karakterize serebral hemisferin doğuştan bir anormalliği CANDIDATE en tr HP:0002126 rdfs:label Polymicrogyria Polimikrogiri OFFICIAL @@ -3347,7 +3347,7 @@ en tr HP:0002474 IAO:0000115 A delay in the acquisition of the ability to use la en tr HP:0002474 rdfs:label Expressive language delay İfade edici dil gecikmesi OFFICIAL en tr HP:0002475 IAO:0000115 Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column. Menenjlerin ve omurilik kısımlarının vertebral kolon dedfektinden dışarıya doğru çıkması CANDIDATE en tr HP:0002475 rdfs:label Myelomeningocele Myelomeningosel OFFICIAL -en tr HP:0002476 IAO:0000115 The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant. İlkel refleksler, normal erken gelişimde bulunan, daha sonra inhibe edilen, ancak serebral, genellikle frontal hasarla inhibisyondan salınabilen bir grup davranışsal motor tepkisidir. Bu nedenle, abartılı esnek refleksler ve ekstansör bataklıklar gibi serbest bırakma olaylarını yansıtan daha geniş bir refleks grubunun parçasıdırlar. Bununla birlikte, bu tür basit esnek reflekslerden daha karmaşık motor yanıtları içerirler ve genellikle yeni doğanlarda veya bebeklerde normal bir özelliktir CANDIDATE +en tr HP:0002476 IAO:0000115 The primitive reflexes are a group of behavioral motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant. İlkel refleksler, normal erken gelişimde bulunan, daha sonra inhibe edilen, ancak serebral, genellikle frontal hasarla inhibisyondan salınabilen bir grup davranışsal motor tepkisidir. Bu nedenle, abartılı esnek refleksler ve ekstansör bataklıklar gibi serbest bırakma olaylarını yansıtan daha geniş bir refleks grubunun parçasıdırlar. Bununla birlikte, bu tür basit esnek reflekslerden daha karmaşık motor yanıtları içerirler ve genellikle yeni doğanlarda veya bebeklerde normal bir özelliktir CANDIDATE en tr HP:0002476 rdfs:label Primitive reflex İlkel refleks OFFICIAL en tr HP:0002478 rdfs:label Progressive spastic quadriplegia Progresif spastik kuadripleji OFFICIAL en tr HP:0002480 IAO:0000115 Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes. Karaciğer yetmezliği ile bağlantılı merkezi sinir sistemi fonksiyon bozukluğu ve letarji, konstruksiyon, nistagmus, dekortik postür oluşturma, spastisite ve bilateral Babinski refleksleri ile klinik olarak (şiddetine bağlı olarak) karakterize edilir CANDIDATE @@ -3706,8 +3706,8 @@ en tr HP:0002742 IAO:0000115 Increased susceptibility to Klebsiella infections, en tr HP:0002742 rdfs:label Recurrent Klebsiella infections Tekrarlayan Klebsiella enfeksiyonları OFFICIAL en tr HP:0002743 IAO:0000115 Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection. Enteroviral enfeksiyonların yineleyen kısımları ile ortaya çıkan enteroviral enfeksiyonlara hassasiyetin artması CANDIDATE en tr HP:0002743 rdfs:label Recurrent enteroviral infections Rekürren enteroviral enfeksiyonlar OFFICIAL -en tr HP:0002744 IAO:0000115 Cleft lip and cleft palate affecting both sides of the face. Suratın iki tarafını da etkileyen yarık dudak ve yarık damak OFFICIAL -en tr HP:0002744 rdfs:label Bilateral cleft lip and palate Çift taraflı yarık dudak ve damak OFFICIAL +en tr HP:0002744 IAO:0000115 Cleft lip and cleft palate affecting both sides of the face Suratın iki tarafını da etkileyen yarık dudak ve yarık damak OFFICIAL +en tr HP:0002744 rdfs:label obsolete Bilateral cleft lip and palate Çift taraflı yarık dudak ve damak CANDIDATE en tr HP:0002745 IAO:0000115 A thickened white patch on the oral mucosa that cannot be rubbed off. Ovuşturulamayan oral mukozada kalınlaşmış beyaz bir yama CANDIDATE en tr HP:0002745 rdfs:label Oral leukoplakia Oral lökoplaki OFFICIAL en tr HP:0002747 rdfs:label Respiratory insufficiency due to muscle weakness Kas güçsüzlüğüne bağlı solunum yetmezliği OFFICIAL @@ -4314,7 +4314,7 @@ en tr HP:0003218 IAO:0000115 An increased concentration of orotic acid in the ur en tr HP:0003218 rdfs:label Oroticaciduria Orotikasidüri OFFICIAL en tr HP:0003219 IAO:0000115 The concentration of ethylmalonic acid in the urine, normalized for urine concentration, is above the upper limit of normal. İdrar içinde artmış bir etilmalonik asit konsantrasyonu CANDIDATE en tr HP:0003219 rdfs:label Ethylmalonic aciduria Etilmalonik asidüri OFFICIAL -en tr HP:0003220 IAO:0000115 A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration. Kromozomların değişime veya bozulmaya karşı direncini düşüren bir çeşit kromozomal sapma CANDIDATE +en tr HP:0003220 IAO:0000115 A type of chromosomal aberration characterized by reduced resistance of chromosomes to change or deterioration. Kromozomların değişime veya bozulmaya karşı direncini düşüren bir çeşit kromozomal sapma CANDIDATE en tr HP:0003220 rdfs:label Abnormality of chromosome stability Kromozon stabilitesinde anormallik OFFICIAL en tr HP:0003221 IAO:0000115 Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C. Kültürlenmiş kan lenfositlerinde ya da diepoksibütan ve mitomisin gibi DNA çapraz bağlayıcı maddelerle yapılan diğer hücrelerde artmış kromozomal kopma miktarı CANDIDATE en tr HP:0003221 rdfs:label Chromosomal breakage induced by crosslinking agents Çapraz bağlayıcı etkenlerden kaynaklanan kromozomal kırılma CANDIDATE @@ -4602,7 +4602,7 @@ en tr HP:0003450 IAO:0000115 The presence of axonal regeneration following a pre en tr HP:0003450 rdfs:label Axonal regeneration Aksonal rejenerasyon OFFICIAL en tr HP:0003451 IAO:0000115 An increased rate of premature chromosome condensation. Gelişmemiş bir kromozom yogunluk oranı artışı CANDIDATE en tr HP:0003451 rdfs:label Increased rate of premature chromosome condensation Gelişmemiş kromozom yogunluk oranı artışı CANDIDATE -en tr HP:0003452 rdfs:label Increased serum iron Artmış serum demiri OFFICIAL +en tr HP:0003452 rdfs:label Increased circulating iron concentration Artmış serum demiri CANDIDATE en tr HP:0003453 IAO:0000115 The presence of autoantibodies in the serum that react against neutrophils. Serumda nötrofillere tepki veren otoantikorların varlığı OFFICIAL en tr HP:0003453 rdfs:label Antineutrophil antibody positivity Antinötrofil antikor pozitifliği OFFICIAL en tr HP:0003454 IAO:0000115 The presence in the serum of autoantibodies directed against thrombocytes. Serumda trombositlere yönelik otoantikorların varlığı OFFICIAL @@ -4787,8 +4787,8 @@ en tr HP:0003634 IAO:0000115 Congenital lack of development of the muscles, whic en tr HP:0003634 rdfs:label Amyoplasia Amiyoplazi OFFICIAL en tr HP:0003635 IAO:0000115 Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg. Kol veya bacakta daha önceden mevcut deri altı yağ dokusunun kaybolması (ortadan kalması) OFFICIAL en tr HP:0003635 rdfs:label Loss of subcutaneous adipose tissue in limbs Uzuvlarda subkütan yağ doku kaybı CANDIDATE -en tr HP:0003637 IAO:0000115 An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase level. 4-hidroksifenilpirüvat dioksijenaz aktivitesinde anormal bir azalma CANDIDATE -en tr HP:0003637 rdfs:label Reduced 4-Hydroxyphenylpyruvate dioxygenase level Azalmış 4-hidroksifenilpirüvat dioksijenaz aktivitesi CANDIDATE +en tr HP:0003637 IAO:0000115 Activity or concentration of 4-hydroxyphenylpyruvate dioxygenase in the blood circulation below the lower limit of normal. 4-hidroksifenilpirüvat dioksijenaz aktivitesinde anormal bir azalma CANDIDATE +en tr HP:0003637 rdfs:label Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity Azalmış 4-hidroksifenilpirüvat dioksijenaz aktivitesi CANDIDATE en tr HP:0003639 IAO:0000115 The concentration of epinephrine in the urine, normalized for urine concentration, is above the upper limit of normal. İdrarda artmış adrenalin konsantrasyonu CANDIDATE en tr HP:0003639 rdfs:label Elevated urinary epinephrine level Artmış idrar epinefrini CANDIDATE en tr HP:0003640 rdfs:label CNS foam cells Viseral organlar ve MSS'deki köpük hücreleri CANDIDATE @@ -5429,7 +5429,7 @@ en tr HP:0004326 IAO:0000115 Severe weight loss, wasting of muscle, loss of appe en tr HP:0004326 rdfs:label Cachexia Kaşeksi OFFICIAL en tr HP:0004327 IAO:0000115 Any structural anomaly of the vitreous body. Bir vitröz cisim anomalisi OFFICIAL en tr HP:0004327 rdfs:label Abnormal vitreous humor morphology Vitröz humor anormalliği OFFICIAL -en tr HP:0004328 IAO:0000115 An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens). Göz yuvarlağının ön bölümünde bir anormallik (vitröz hümorun önündeki yapıları içerir: kornea, iris, silier cisim ve lens) CANDIDATE +en tr HP:0004328 IAO:0000115 An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humor: the cornea, iris, ciliary body, and lens). Göz yuvarlağının ön bölümünde bir anormallik (vitröz hümorun önündeki yapıları içerir: kornea, iris, silier cisim ve lens) CANDIDATE en tr HP:0004328 rdfs:label Abnormal anterior eye segment morphology Göz küresinin ön bölümünün anormalliği CANDIDATE en tr HP:0004329 rdfs:label Abnormal posterior eye segment morphology Göz küresinin arka segmentinin anormalliği CANDIDATE en tr HP:0004330 IAO:0000115 An increase in the magnitude or amount of ossification of the skull. Kafatasının kemikleşme büyüklüğünde veya miktarında bir artış OFFICIAL @@ -5539,7 +5539,7 @@ en tr HP:0004395 rdfs:label Malnutrition Malnütrisyon OFFICIAL en tr HP:0004396 rdfs:label Poor appetite Zayıf iştah OFFICIAL en tr HP:0004397 IAO:0000115 Abnormal displacement or malposition of the anus. Anüsün anormal yerleşimi veya malpozisyonu OFFICIAL en tr HP:0004397 rdfs:label Ectopic anus Ektopik anüs OFFICIAL -en tr HP:0004398 IAO:0000115 The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the oesophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers. Gastrointestinal kanalın bir ülseri CANDIDATE +en tr HP:0004398 IAO:0000115 The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the esophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers. Gastrointestinal kanalın bir ülseri CANDIDATE en tr HP:0004398 rdfs:label Peptic ulcer Peptik ülser OFFICIAL en tr HP:0004399 IAO:0000115 Congenital atresia of the pylorus. Pilorun konjenital atrezisi OFFICIAL en tr HP:0004399 rdfs:label Congenital pyloric atresia Konjenital pilor atrezisi OFFICIAL @@ -5588,7 +5588,7 @@ en tr HP:0004429 rdfs:label Recurrent viral infections Rekürren viral enfeksiyo en tr HP:0004430 IAO:0000115 A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems. Ağır kombine immün yetmezliği (SCID) T ve B lenfosit sistemlerinde ciddi bozukluklar ile karakterize edilen birincil bir immün bozukluğudur CANDIDATE en tr HP:0004430 rdfs:label Severe combined immunodeficiency Ciddi kombine immün yetmezlik OFFICIAL en tr HP:0004431 IAO:0000115 An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins. Kompleman sistem proteinlerinden birinin var olmayan ya da optimal olmayan işleyişi ile tanımlanan bir immün yetmezliği CANDIDATE -en tr HP:0004431 rdfs:label Complement deficiency Kompleman eksikliği OFFICIAL +en tr HP:0004431 rdfs:label Reduced circulating complement concentration Kompleman eksikliği CANDIDATE en tr HP:0004432 IAO:0000115 A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured. Kandaki genellikle tüm gama globulin sınıflarında yokluk veya aşırı düşük seviye CANDIDATE en tr HP:0004432 rdfs:label Agammaglobulinemia Agamaglobülinemi OFFICIAL en tr HP:0004433 IAO:0000115 Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens. IgA salgılama kusuru ( 2-4 IgA monomerlerinin polimerazları iki farklı zincire bağlıdır) ve Mukosal level prımer antibadi karşılıgıdır, patojen ve allerjilerle orada bağışıklık komplikasyonları oluşturur CANDIDATE @@ -5965,7 +5965,7 @@ en tr HP:0004855 IAO:0000115 An abnormality of coagulation related to a decrease en tr HP:0004855 rdfs:label Reduced protein S activity Azalmış protein S aktivitesi OFFICIAL en tr HP:0004856 IAO:0000115 A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes. Eritrositlerdeki hemoglobinin konsantrasyonunun normal olması ve eritrositlerin boylarının normalden küçük olmasıyla karakterize edilen bir anemi türü CANDIDATE en tr HP:0004856 rdfs:label Normochromic microcytic anemia Normokromik mikrositer anemi OFFICIAL -en tr HP:0004857 IAO:0000115 A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin. Anormal yüksek miktarda hemoglobin içeren anormal büyüklükte eritrositlerle karakterize edilen bir tür anemi CANDIDATE +en tr HP:0004857 IAO:0000115 A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of hemoglobin. Anormal yüksek miktarda hemoglobin içeren anormal büyüklükte eritrositlerle karakterize edilen bir tür anemi CANDIDATE en tr HP:0004857 rdfs:label Hyperchromic macrocytic anemia Hiperkromik makrositer anemi OFFICIAL en tr HP:0004859 IAO:0000115 Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes. Megakaryosit sayımında bulunmama veya ciddi azalmaya ilişkili trombositopeni CANDIDATE en tr HP:0004859 rdfs:label Amegakaryocytic thrombocytopenia Amegakaryositik trombositopeni OFFICIAL @@ -6206,7 +6206,7 @@ en tr HP:0005103 rdfs:label Calcification of the auricular cartilage Auriküler en tr HP:0005104 IAO:0000115 Underdevelopment of the nasal septum. Nazal septumun az gelişmesi OFFICIAL en tr HP:0005104 rdfs:label Hypoplastic nasal septum Hipoplastik nazal septum OFFICIAL en tr HP:0005105 rdfs:label Abnormal nasal morphology Anormal nazal morfoloji OFFICIAL -en tr HP:0005106 IAO:0000115 Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs. Vertebral disklerin üst ve alt kısımları olan vertebral uç plakalarının herhangi bir anormalliği, vertebral disklerle arabirim oluşturur CANDIDATE +en tr HP:0005106 IAO:0000115 Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral disks. Vertebral disklerin üst ve alt kısımları olan vertebral uç plakalarının herhangi bir anormalliği, vertebral disklerle arabirim oluşturur CANDIDATE en tr HP:0005106 rdfs:label Abnormality of the vertebral endplates Omurga uç plaklarının anormalliği OFFICIAL en tr HP:0005107 IAO:0000115 An abnormality of the sacral bone. Sakral kemiğin bir anormalliği OFFICIAL en tr HP:0005107 rdfs:label Abnormal sacrum morphology Anormal sakrum morfolojisi OFFICIAL @@ -6425,7 +6425,7 @@ en tr HP:0005281 rdfs:label Hypoplastic nasal bridge Hipoplastik burun köprüs en tr HP:0005285 rdfs:label Absent nasal bridge Burun köprüsü yok OFFICIAL en tr HP:0005288 IAO:0000115 Abnormality of the nostril. Burun deliği anormalliği OFFICIAL en tr HP:0005288 rdfs:label Abnormal nostril morphology Burun deliği anormalliği CANDIDATE -en tr HP:0005289 rdfs:label Abnormality of the nasolabial region Nazolabiyal bölgenin anormalliği OFFICIAL +en tr HP:0005289 rdfs:label Abnormal nasolabial region morphology Nazolabiyal bölgenin anormalliği CANDIDATE en tr HP:0005290 rdfs:label Internal carotid artery hypoplasia İnternal katoris arter hipoplazisi OFFICIAL en tr HP:0005291 rdfs:label Inflammatory arteriopathy İnflamatuar arteriyopati OFFICIAL en tr HP:0005292 rdfs:label Intimal thickening in the coronary arteries Koroner arterlerin intimal kalınlaşması CANDIDATE @@ -7417,7 +7417,7 @@ en tr HP:0006414 IAO:0000115 A bending or abnormal curvature of the distal porti en tr HP:0006414 rdfs:label Distal tibial bowing Distal tibial eğrilik OFFICIAL en tr HP:0006415 IAO:0000115 Increased density of the compact bone of long bone. Uzun kemiğin set kemik yoğunlugunun artması CANDIDATE en tr HP:0006415 rdfs:label Cortically dense long tubular bones Kortikal yoğun uzun tubular kemikler OFFICIAL -en tr HP:0006417 rdfs:label Broad femoral metaphyses Geniş femoral metafizler OFFICIAL +en tr HP:0006417 rdfs:label Wide femoral metaphysis Geniş femoral metafizler CANDIDATE en tr HP:0006420 IAO:0000115 The presence of asymmetric developmental dysplasia of the radius. Radiusta asimetrik gelişimsel displazisi varlığı CANDIDATE en tr HP:0006420 rdfs:label Asymmetric radial dysplasia Asimetrik radyal displazi OFFICIAL en tr HP:0006423 rdfs:label Peg-like central prominence of distal tibial metaphyses Distal tibial metafizlerin pim benzeri merkezi belirginliği CANDIDATE @@ -7427,7 +7427,7 @@ en tr HP:0006426 rdfs:label Rudimentary to absent tibiae Tam gelişmemişten olm en tr HP:0006429 IAO:0000115 An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). Anormal derecede geniş bir kalça kemiği boynu (kalça kemiği başını kalça kemiği şaftı ile birleştiren kemik işlemi) CANDIDATE en tr HP:0006429 rdfs:label Broad femoral neck Geniş femoral boyun OFFICIAL en tr HP:0006431 IAO:0000115 An anomaly of the metaphysis of the proximal femur (close to the hip). Proksimal femurun (kalçaya yakın) metafizinin bir anomalisi CANDIDATE -en tr HP:0006431 rdfs:label Proximal femoral metaphyseal abnormality Proksimal femoral metafizyal anormallik CANDIDATE +en tr HP:0006431 rdfs:label Abnormal proximal femoral metaphysis morphology Proksimal femoral metafizyal anormallik CANDIDATE en tr HP:0006432 rdfs:label Trapezoidal distal femoral condyles Trapezoidal distal femoral kondiller OFFICIAL en tr HP:0006433 rdfs:label Radial dysplasia Displastik radiuslar CANDIDATE en tr HP:0006434 IAO:0000115 Proximal radial shortening owing to a congenital defect of development. Konjenital bir gelişim defekti sebebiyle proksimal radial kısalma CANDIDATE @@ -8143,7 +8143,7 @@ en tr HP:0007267 rdfs:label Chronic axonal neuropathy Kronik aksonal nöropati O en tr HP:0007268 rdfs:label Aprosencephaly Aprosensefali OFFICIAL en tr HP:0007269 IAO:0000115 Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. Omurilik ve beyinkökü motor nöronları kaybına bağlı kas zayıflığı ve atrofi CANDIDATE en tr HP:0007269 rdfs:label Spinal muscular atrophy Spinal kas atrofisi OFFICIAL -en tr HP:0007270 IAO:0000115 An atypical absence seizure is a type of generalised non-motor (absence) seizure characterised by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity. Gizlice nitelenen yokluk tutulmaları başlar ve biter ve sık sık süreci uzatır, Elektroensefalografi üzerinde yavaş dik-dalga deşarjları tarafından eşlik edilir CANDIDATE +en tr HP:0007270 IAO:0000115 An atypical absence seizure is a type of generalized non-motor (absence) seizure characterized by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity. Gizlice nitelenen yokluk tutulmaları başlar ve biter ve sık sık süreci uzatır, Elektroensefalografi üzerinde yavaş dik-dalga deşarjları tarafından eşlik edilir CANDIDATE en tr HP:0007270 rdfs:label Atypical absence seizure Atipik absans nöbetleri OFFICIAL en tr HP:0007271 rdfs:label Occipital myelomeningocele Oksipital miyelomeningosel OFFICIAL en tr HP:0007272 rdfs:label Progressive psychomotor deterioration Progresif psikomotor bozulma OFFICIAL @@ -8268,7 +8268,7 @@ en tr HP:0007410 IAO:0000115 An abnormally increased perspiration on palms and s en tr HP:0007410 rdfs:label Palmoplantar hyperhidrosis Palmoplantar hiperhidroz OFFICIAL en tr HP:0007411 rdfs:label Hypoplastic-absent sebaceous glands Hipoplastik-olmayan sebaseöz bezler OFFICIAL en tr HP:0007412 rdfs:label Macular hyperpigmented dermopathy Maküler hiperpigmente dermopatisi OFFICIAL -en tr HP:0007413 IAO:0000115 Naevus flammeus localised in the skin of the forehead. Porto şarap lekesi alnın derisinde lokalizedir CANDIDATE +en tr HP:0007413 IAO:0000115 Naevus flammeus localized in the skin of the forehead. Porto şarap lekesi alnın derisinde lokalizedir CANDIDATE en tr HP:0007413 rdfs:label Nevus flammeus of the forehead Alnın nevüs flammeusu OFFICIAL en tr HP:0007414 rdfs:label Neonatal wrinkled skin of hands and feet Ellerin ve ayakların neonatal kırışık derisi CANDIDATE en tr HP:0007417 IAO:0000115 Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy. Derideki doku bozukluğu kuru, pul pul, kırmızı bir yama olarak gelişir ve yapışkan ölçüde sertleşmiş ve aşırı pigmentli bir plak haline dönüşür. Yara izi merkezi beyaz lekeler (pigmentasyon kaybı) ve cilt atrofisine neden olabilir CANDIDATE @@ -8451,7 +8451,7 @@ en tr HP:0007609 IAO:0000115 An abnormal accumulation of fluid beneath the skin, en tr HP:0007609 rdfs:label Hypoproteinemic edema Hipoproteinemik ödem OFFICIAL en tr HP:0007610 rdfs:label Blotching pigmentation of the skin Derinin lekeşen pigmentasyonu OFFICIAL en tr HP:0007613 rdfs:label Spinous keratoses of palms and soles Avuç içlerinin ve ayak tabanının spinöz keratozu OFFICIAL -en tr HP:0007616 IAO:0000115 Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns. Naevus flammeus un boyun derisine yerleşmesi. Bu, en yaygın doğum lekelerinden biridir ve tüm yeni doğanların yaklaşık% 25'inde mevcuttur CANDIDATE +en tr HP:0007616 IAO:0000115 Naevus flammeus localized in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns. Naevus flammeus un boyun derisine yerleşmesi. Bu, en yaygın doğum lekelerinden biridir ve tüm yeni doğanların yaklaşık% 25'inde mevcuttur CANDIDATE en tr HP:0007616 rdfs:label Nevus flammeus nuchae Nevüs flammeus nukha OFFICIAL en tr HP:0007617 rdfs:label Fine, reticulate skin pigmentation İnce, retiküle deri pigmentasyonu OFFICIAL en tr HP:0007618 IAO:0000115 Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument). Deri altı dokuda kalsiyum tuzlarının depolanması (yani, derinin en alt tabakası) CANDIDATE @@ -8466,7 +8466,7 @@ en tr HP:0007627 rdfs:label Mandibular condyle aplasia Mandibüler kondil aplazi en tr HP:0007628 rdfs:label Mandibular condyle hypoplasia Mandibüler kondil hipoplazisi OFFICIAL en tr HP:0007633 IAO:0000115 A developmental anomaly characterized by abnormal smallness of both eyes. Her iki gözde de anormal küçüklük ile karakterize edilen gelişimsel bir anormali CANDIDATE en tr HP:0007633 rdfs:label Bilateral microphthalmos Bilateral mikroftalmi OFFICIAL -en tr HP:0007634 IAO:0000115 An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates. Akut bir durum, ani görme kaybı (genellikle sabahları ortaya çıkar) başlangıçta optik disk ödemi, optik diske bağlı görme bozukluklarıyla karakterize edilir. Nonarteritik anterior iskemik optik nöropati, şişmiş disk üzerinde ya da yakındaki nöroretinal tabakada alev şeklinde kanamalarla ve yakınlardaki pamuklu-yün şeklindeki eksüdalarla bağlantılı olabilir CANDIDATE +en tr HP:0007634 IAO:0000115 An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disk or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates. Akut bir durum, ani görme kaybı (genellikle sabahları ortaya çıkar) başlangıçta optik disk ödemi, optik diske bağlı görme bozukluklarıyla karakterize edilir. Nonarteritik anterior iskemik optik nöropati, şişmiş disk üzerinde ya da yakındaki nöroretinal tabakada alev şeklinde kanamalarla ve yakınlardaki pamuklu-yün şeklindeki eksüdalarla bağlantılı olabilir CANDIDATE en tr HP:0007634 rdfs:label Nonarteritic anterior ischemic optic neuropathy Arterik olmayan ön iskemik optik nöropati OFFICIAL en tr HP:0007641 IAO:0000115 A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments. Retina koni pigmentlerinden birinden yoksun olduğu için üç temel rengin sadece ikisinin ayırt edilebildiği bir renk körlüğü şekli CANDIDATE en tr HP:0007641 rdfs:label Dyschromatopsia Diskromatopsi OFFICIAL @@ -8581,7 +8581,7 @@ en tr HP:0007769 rdfs:label Peripheral retinal degeneration Periferal retinal de en tr HP:0007770 rdfs:label Hypoplasia of the retina Retina hipoplazisi OFFICIAL en tr HP:0007772 IAO:0000115 An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion. Retina hedef hareketini en aza indirgeyen oldukça yavaş göz hareketleri sınıfı olan oküler pürüzsüz takip sistemi ile nesneleri izleyebilme yeteneğinde bozukluk CANDIDATE en tr HP:0007772 rdfs:label Impaired smooth pursuit Bozuk düz takip OFFICIAL -en tr HP:0007773 IAO:0000115 Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. Artmış retinal dekolman riski ile ilişkili olabilen vitrözün ve retinanın prematür dejenerasyonu ile karakterize oküler anormallik OFFICIAL +en tr HP:0007773 IAO:0000115 Ocular abnormality characterized by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. Artmış retinal dekolman riski ile ilişkili olabilen vitrözün ve retinanın prematür dejenerasyonu ile karakterize oküler anormallik CANDIDATE en tr HP:0007773 rdfs:label Vitreoretinopathy Vitreoretinopati OFFICIAL en tr HP:0007774 IAO:0000115 Underdevelopment of the ciliary body. Siliyer cismin tam gelişmemesi OFFICIAL en tr HP:0007774 rdfs:label Hypoplasia of the ciliary body Siliyer cisim hipoplazisi OFFICIAL @@ -8683,7 +8683,7 @@ en tr HP:0007889 IAO:0000115 A type of posterior subcapsular cataract characteri en tr HP:0007889 rdfs:label Iridescent posterior subcapsular cataract Sarışın posterior subkapsüler katarakt CANDIDATE en tr HP:0007892 IAO:0000115 Underdevelopment of the lacrimal puncta. Lakrimal puncta'nın az gelişmişliği CANDIDATE en tr HP:0007892 rdfs:label Hypoplasia of the lacrimal punctum Lakrimal punktumun hipoplazisi OFFICIAL -en tr HP:0007894 IAO:0000115 Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid). Fundusun pigmentasyonunun azalması, tipik olarak genelleştirilebilir. Fundoskopi RPE de koroid damarlarının berrak görünebilirliği ile (renksiz / albinoid) veya koroiddeki derin pigmentli RPE de düşük pigment seviyesi ile RPE de ve koroidde düşük seviyeli bir pigment ortaya çıkarabilir, böylece görünür koroid damarları derin pigmentli bölgeler (mozaik / benekli) ile ayrılır CANDIDATE +en tr HP:0007894 IAO:0000115 Reduced pigmentation of the fundus, typically generalized. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid). Fundusun pigmentasyonunun azalması, tipik olarak genelleştirilebilir. Fundoskopi RPE de koroid damarlarının berrak görünebilirliği ile (renksiz / albinoid) veya koroiddeki derin pigmentli RPE de düşük pigment seviyesi ile RPE de ve koroidde düşük seviyeli bir pigment ortaya çıkarabilir, böylece görünür koroid damarları derin pigmentli bölgeler (mozaik / benekli) ile ayrılır CANDIDATE en tr HP:0007894 rdfs:label Hypopigmentation of the fundus Fundus hipopigmentasyonu OFFICIAL en tr HP:0007898 rdfs:label Exudative retinopathy Eksudatif retinopati OFFICIAL en tr HP:0007899 IAO:0000115 Failure of attachment of the retina during development. Gelişme sırasında retinanın tutunamaması CANDIDATE @@ -8744,7 +8744,7 @@ en tr HP:0007963 IAO:0000115 A spectrum of fundoscopic appearances characterized en tr HP:0007963 rdfs:label Pattern dystrophy of the retina Retinanın desen distrofisi OFFICIAL en tr HP:0007964 rdfs:label Degenerative vitreoretinopathy Dejeneratif vitreoretinopati OFFICIAL en tr HP:0007965 rdfs:label Undetectable visual evoked potentials Saptanamayan uyarılmış görsel potansiyel yanıtlar OFFICIAL -en tr HP:0007968 IAO:0000115 Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract. Optik diskten arka mercek kapsülüne kadar uzanan embriyonik arter olan hiyaloid arterinin inatçılığı devam edebilir; bağlanma yeri opaklık oluşturabilir. Hiyaloid arter oftalmik arterin bir dalıdır ve genellikle doğumdan önce tamamen geriler. Bu özellikler, embriyogenez sırasında primer vitreusa neden olan ve genellikle gebeliğin üçüncü üç aylık döneminde gerileyen hiyaloid damarın gerilemesindeki başarısızlıktan kaynaklanır ve belirli bir posterior katarakt şekline neden olur CANDIDATE +en tr HP:0007968 IAO:0000115 Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract. Optik diskten arka mercek kapsülüne kadar uzanan embriyonik arter olan hiyaloid arterinin inatçılığı devam edebilir; bağlanma yeri opaklık oluşturabilir. Hiyaloid arter oftalmik arterin bir dalıdır ve genellikle doğumdan önce tamamen geriler. Bu özellikler, embriyogenez sırasında primer vitreusa neden olan ve genellikle gebeliğin üçüncü üç aylık döneminde gerileyen hiyaloid damarın gerilemesindeki başarısızlıktan kaynaklanır ve belirli bir posterior katarakt şekline neden olur CANDIDATE en tr HP:0007968 rdfs:label Remnants of the hyaloid vascular system Hyaloid damar sisteminin kalıntıları CANDIDATE en tr HP:0007970 rdfs:label Congenital ptosis Konjenital ptozis OFFICIAL en tr HP:0007971 IAO:0000115 A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens. Opaklığın çekirdeğin dışındaki (yani perinükleer bölge) mercek tabakalarına başka bir deyişle merceğin nükleer ve kortikal tabakaları arasında sınırlandığı doğuştan bir katarakt CANDIDATE @@ -9183,7 +9183,7 @@ en tr HP:0008417 IAO:0000115 Small, underdeveloped vertebral bodies. Küçük, t en tr HP:0008417 rdfs:label Vertebral hypoplasia Vertebral hipoplazi OFFICIAL en tr HP:0008418 rdfs:label Squared-off platyspondyly Kareleşmiş platispondili OFFICIAL en tr HP:0008419 IAO:0000115 The presence of degenerative changes of intervertebral disk. İntervertebral diskte dejeneratif değişikliklerin oluşumu CANDIDATE -en tr HP:0008419 rdfs:label Intervertebral disc degeneration İntervertebral disk dejenerasyonu OFFICIAL +en tr HP:0008419 rdfs:label Intervertebral disk degeneration İntervertebral disk dejenerasyonu CANDIDATE en tr HP:0008420 IAO:0000115 The presence of punctiform calcification of the bone of the vertebral bodies. Vertebral cisimlerin kemiğinin nokta biçiminde kalsifikasyonunun varlığı CANDIDATE en tr HP:0008420 rdfs:label Punctate vertebral calcifications Punktat vertebral kalsifikasyonlar OFFICIAL en tr HP:0008421 rdfs:label Tall lumbar vertebral bodies Uzun lumbar vertebral gövdeler OFFICIAL @@ -9280,11 +9280,11 @@ en tr HP:0008494 IAO:0000115 Partial displacement of the lens in the inferior di en tr HP:0008494 rdfs:label Inferior lens subluxation Alt lens subluksasyonu OFFICIAL en tr HP:0008496 rdfs:label Multiple rows of eyelashes Çoklu kirpik sırası OFFICIAL en tr HP:0008497 rdfs:label Congenital craniofacial dysostosis Konjenital kraniyofasyal dizostoz OFFICIAL -en tr HP:0008498 rdfs:label No permanent dentition Kalıcı dişlenmenin olmaması OFFICIAL +en tr HP:0008498 rdfs:label obsolete No permanent dentition Kalıcı dişlenmenin olmaması CANDIDATE en tr HP:0008499 IAO:0000115 A severe form of hypermetropia with over +5.00 diopters. +5.00 dioptri ile şiddetli bir hipermetrop şekli CANDIDATE en tr HP:0008499 rdfs:label High hypermetropia Yüksek hipermetropi OFFICIAL -en tr HP:0008501 IAO:0000115 Cleft lip or palate affecting the midline region of the palate. Damak orta hattını etkileyen yarık dudak veya damak CANDIDATE -en tr HP:0008501 rdfs:label Median cleft lip and palate Orta hat yarık dudak ve damak OFFICIAL +en tr HP:0008501 IAO:0000115 Cleft lip or palate affecting the midline region of the palate Damak orta hattını etkileyen yarık dudak veya damak CANDIDATE +en tr HP:0008501 rdfs:label obsolete Median cleft lip and palate Orta hat yarık dudak ve damak CANDIDATE en tr HP:0008504 IAO:0000115 The presence of a moderate form of sensorineural hearing impairment. Sensörinöral işitme bozukluğunun orta dereceli bir formunun varlığı OFFICIAL en tr HP:0008504 rdfs:label Moderate sensorineural hearing impairment Orta şiddetli sensörinöral işitme bozukluğu OFFICIAL en tr HP:0008507 rdfs:label Static ophthalmoparesis Statik oftalmoparezi OFFICIAL @@ -9371,8 +9371,8 @@ en tr HP:0008631 IAO:0000115 A developmental anomaly of the ureter. Üreterin ge en tr HP:0008631 rdfs:label Ureteral dysgenesis Üreteral disgenezi OFFICIAL en tr HP:0008633 IAO:0000115 Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females). Cinsiyet bezlerinin (gamet üreten organlar gonadlardır; erkeklerde testis ve kadınlarda over) yokluğu OFFICIAL en tr HP:0008633 rdfs:label Agonadism Gonadal doku yokluğu OFFICIAL -en tr HP:0008635 IAO:0000115 Abnormal enlargement of the urinary bladder. Mesanenin anormal genişlemesi OFFICIAL -en tr HP:0008635 rdfs:label Hypertrophy of the urinary bladder Mesane hipertrofisi OFFICIAL +en tr HP:0008635 IAO:0000115 Increase in thickness of the wall of the urinary bladder. This finding may be seen in conditions such as bladder outlet obstruction and may be accompanied by increased trabeculation of the bladder wall musculature. Mesanenin anormal genişlemesi CANDIDATE +en tr HP:0008635 rdfs:label Urinary bladder wall hypertrophy Mesane hipertrofisi CANDIDATE en tr HP:0008636 rdfs:label obsolete Lobular glomerulopathy Lobüler glomerülopati CANDIDATE en tr HP:0008639 rdfs:label Gonadal hypoplasia Gonadal hipoplazi OFFICIAL en tr HP:0008640 rdfs:label Congenital macroorchidism Konjenital makroorşidizm OFFICIAL @@ -10600,8 +10600,8 @@ en tr HP:0009593 IAO:0000115 The presence of a peripheral schwannoma. Periferik en tr HP:0009593 rdfs:label Peripheral schwannoma Periferal Schwannoma OFFICIAL en tr HP:0009594 IAO:0000115 A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina. Retinanın bir hamartomu (hücrelerin ve dokuların organize olmayan karışımından oluşan selim, fokal bir malformasyon) OFFICIAL en tr HP:0009594 rdfs:label Retinal hamartoma Retinal hamartom OFFICIAL -en tr HP:0009595 IAO:0000115 Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1. Nörofibromatozis tip 1'de sıklıkla gözlenenden daha az sayıda nörofibroma vardır OFFICIAL -en tr HP:0009595 rdfs:label Occasional neurofibromas Nadir nörofibromlar OFFICIAL +en tr HP:0009595 IAO:0000115 Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1 Nörofibromatozis tip 1'de sıklıkla gözlenenden daha az sayıda nörofibroma vardır OFFICIAL +en tr HP:0009595 rdfs:label obsolete Occasional neurofibromas Nadir nörofibromlar CANDIDATE en tr HP:0009596 IAO:0000115 Absence of the proximal phalanx of the 2nd finger. 2. parmağın proksimal falanksının yokluğu OFFICIAL en tr HP:0009596 rdfs:label Aplasia of the proximal phalanx of the 2nd finger 2. parmağın proksimal falanksının aplazisi OFFICIAL en tr HP:0009597 IAO:0000115 Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger. İkinci parmağın proksimal falanks hipoplazisi (boyut olarak konjenital küçüklüğü) OFFICIAL @@ -10826,7 +10826,7 @@ en tr HP:0009725 IAO:0000115 The presence of a neoplasm of the urinary bladder. en tr HP:0009725 rdfs:label Bladder neoplasm Mesane neoplazmı OFFICIAL en tr HP:0009726 IAO:0000115 The presence of a neoplasm of the kidney. Bir böbrek neoplazisi varlığı OFFICIAL en tr HP:0009726 rdfs:label Renal neoplasm Renal neoplazm OFFICIAL -en tr HP:0009727 IAO:0000115 Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina. Pigmentasyonu eksik retina sahaları. Boyut olarak 1 disk çapından daha az ve retinanın orta periferinde yer almaya meyilli delikli koryoretinal hipopigmentasyon sahaları OFFICIAL +en tr HP:0009727 IAO:0000115 Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disk diameter in size and tending to be located in the midperiphery of the retina. Pigmentasyonu eksik retina sahaları. Boyut olarak 1 disk çapından daha az ve retinanın orta periferinde yer almaya meyilli delikli koryoretinal hipopigmentasyon sahaları CANDIDATE en tr HP:0009727 rdfs:label Achromatic retinal patches Akromatik retinal yamalar OFFICIAL en tr HP:0009728 IAO:0000115 A benign or malignant neoplasm (tumor) originating in striated muscle, either skeletal muscle or cardiac muscle. Çizgili kastan, ya iskelet kası ya da kalp kası, köken alan selim veya habis bir neoplazm (tümör) CANDIDATE en tr HP:0009728 rdfs:label Neoplasm of striated muscle Çizgili kas neoplazisi OFFICIAL @@ -11139,8 +11139,8 @@ en tr HP:0009920 IAO:0000115 A dermal melanocytic hamartoma that presents as blu en tr HP:0009920 rdfs:label Nevus of Ota Ota nevüsü OFFICIAL en tr HP:0009921 IAO:0000115 A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction Adduksiyonda göz küresi geri çekilmesi ve palpebral fissür darlaşması ile yatay oküler hareket sınırlılığı ile ilişkili bir durum OFFICIAL en tr HP:0009921 rdfs:label Duane anomaly Duane anomalisi OFFICIAL -en tr HP:0009922 IAO:0000115 Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. Şeffaf arterin kalıcılığı, buda arka mercek kapsülünün optik diskten çalıştırılan embriyonik arteri sürdürebilir; bağlılığın yeri opaklık oluşturabilir. Şeffaf arter gözle ilgili arterin dalıdır, ve genellikle doğumdan önce tamamen geri çekilir CANDIDATE -en tr HP:0009922 rdfs:label Vascular remnant arising from the disc Diskten köken alan vasküler kalıntı OFFICIAL +en tr HP:0009922 IAO:0000115 Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. Şeffaf arterin kalıcılığı, buda arka mercek kapsülünün optik diskten çalıştırılan embriyonik arteri sürdürebilir; bağlılığın yeri opaklık oluşturabilir. Şeffaf arter gözle ilgili arterin dalıdır, ve genellikle doğumdan önce tamamen geri çekilir CANDIDATE +en tr HP:0009922 rdfs:label Vascular remnant arising from the disk Diskten köken alan vasküler kalıntı CANDIDATE en tr HP:0009924 IAO:0000115 Underdevelopment or absence of the nose or parts thereof. Burnun veya dolayısı ile kısımlarının tam gelişmemesi veya yokluğu OFFICIAL en tr HP:0009924 rdfs:label Aplasia/Hypoplasia involving the nose Brunu içeren aplazi/hipoplazi OFFICIAL en tr HP:0009926 IAO:0000115 Abnormally increased lacrimation, that is, excessive tearing (watering eye). Anormal lakrimasyon artışı, yani, aşırı gözyaşı dökme (sulanan göz) CANDIDATE @@ -11627,15 +11627,15 @@ en tr HP:0010220 IAO:0000115 Any abnormality of the epiphysis of the second meta en tr HP:0010220 rdfs:label Abnormality of the epiphysis of the 2nd metacarpal 2. metakarpalın epifizinin anormalliği CANDIDATE en tr HP:0010222 IAO:0000115 Any abnormality of the epiphysis of the third metacarpal bone. Metakarpal kemiğin epifizinin herhangi bir anormalliği CANDIDATE en tr HP:0010222 rdfs:label Abnormality of the epiphysis of the 3rd metacarpal 3. metakarpalın epifizinin anormalliği CANDIDATE -en tr HP:0010223 IAO:0000115 The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. Üçüncü metakarpalin normal epifizi metakarpal kemiğin distal ucunda yerleşmiştir. Bu terim eğer metakarpal kemiğin proksimal ucunda yer alan aksesuvar bir epifiz varlığında geçerlidir OFFICIAL +en tr HP:0010223 IAO:0000115 The normal epiphysis of the third metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. Üçüncü metakarpalin normal epifizi metakarpal kemiğin distal ucunda yerleşmiştir. Bu terim eğer metakarpal kemiğin proksimal ucunda yer alan aksesuvar bir epifiz varlığında geçerlidir CANDIDATE en tr HP:0010223 rdfs:label Pseudoepiphysis of the 3rd metacarpal 3. metakarpalın psödoepifizi OFFICIAL en tr HP:0010224 IAO:0000115 Any abnormality of the epiphysis of the 4th metacarpal bone. 4. metakarpal kemiğin epifizinin herhangi bir anormalliği CANDIDATE en tr HP:0010224 rdfs:label Abnormality of the epiphysis of the 4th metacarpal 4. metakarpalın epifizinin anormalliği CANDIDATE -en tr HP:0010225 IAO:0000115 The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. Dördüncü metakarpalin normal epifizi metakarpal kemiğin distal ucunda yerleşmiştir. Bu terim eğer metakarpal kemiğin proksimal ucunda yer alan aksesuvar bir epifiz varlığında geçerlidir OFFICIAL +en tr HP:0010225 IAO:0000115 The normal epiphysis of the fourth metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. Dördüncü metakarpalin normal epifizi metakarpal kemiğin distal ucunda yerleşmiştir. Bu terim eğer metakarpal kemiğin proksimal ucunda yer alan aksesuvar bir epifiz varlığında geçerlidir CANDIDATE en tr HP:0010225 rdfs:label Pseudoepiphysis of the 4th metacarpal 4. metakarpalın psödoepifizi OFFICIAL en tr HP:0010226 IAO:0000115 Any abnormality of the epiphysis of the fifth metacarpal bone. Beşinci metakarpal kemiğin epifizinin herhangi bir anormalliği CANDIDATE en tr HP:0010226 rdfs:label Abnormality of the epiphysis of the 5th metacarpal 5. metakarpalın epifizinin anormalliği CANDIDATE -en tr HP:0010227 IAO:0000115 The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. Beşinci metakarpalin normal epifizi metakarpal kemiğin distal ucunda yerleşmiştir. Bu terim eğer metakarpal kemiğin proksimal ucunda yer alan aksesuvar bir epifiz varlığında geçerlidir OFFICIAL +en tr HP:0010227 IAO:0000115 The normal epiphysis of the fifth metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. Beşinci metakarpalin normal epifizi metakarpal kemiğin distal ucunda yerleşmiştir. Bu terim eğer metakarpal kemiğin proksimal ucunda yer alan aksesuvar bir epifiz varlığında geçerlidir CANDIDATE en tr HP:0010227 rdfs:label Pseudoepiphysis of the 5th metacarpal 5. metakarpalın psödoepifizi OFFICIAL en tr HP:0010228 IAO:0000115 Absence of one or more epiphyses of the phalanges of the fingers. Parmak falankslarının bir veya daha fazla epifizinin olmaması CANDIDATE en tr HP:0010228 rdfs:label Absent epiphyses of the phalanges of the hand El falankslarının epifizlerinin yokluğu CANDIDATE @@ -12221,7 +12221,7 @@ en tr HP:0010583 rdfs:label Ivory epiphyses Fildişi epifizleri OFFICIAL en tr HP:0010584 rdfs:label Pseudoepiphyses Psödoepifizler OFFICIAL en tr HP:0010585 IAO:0000115 Reduction in the size or volume of epiphyses. Epifizin boyutu veya hacminde azalma OFFICIAL en tr HP:0010585 rdfs:label Small epiphyses Küçük epifizler OFFICIAL -en tr HP:0010587 rdfs:label Triangular epiphyses Üçgen epifizler OFFICIAL +en tr HP:0010587 rdfs:label Triangular epiphysis Üçgen epifizler CANDIDATE en tr HP:0010588 IAO:0000115 Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at each end of a long bone, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. Her bir uzun kemiğin metafizinde epifizyal plak hiyalin kıkırdak tabakada büyüme duraksaması ve dahil olan kemiğin kısalması ile sonuçlanan normal yaştan daha erken olarak büyümenin durması OFFICIAL en tr HP:0010588 rdfs:label Premature epimetaphyseal fusion Prematür epimetafizyal füzyon OFFICIAL en tr HP:0010590 IAO:0000115 Any abnormality of the distal epiphysis of the femur. Femurun distal epifizinin herhangi bir anormalliği CANDIDATE @@ -12248,7 +12248,7 @@ en tr HP:0010601 IAO:0000115 Any abnormality of the proximal epiphysis of the ul en tr HP:0010601 rdfs:label Abnormal proximal ulnar epiphysis morphology Proksimal ulnar epifiz anormalliği CANDIDATE en tr HP:0010602 IAO:0000115 An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy). Tip II kas liflerinin anormal bir baskınlığı (genelde bu özellik sadece kas biyopsisinde gözlenebilir) OFFICIAL en tr HP:0010602 rdfs:label Type 2 muscle fiber predominance Tip 2 kas lifi baskınlığı OFFICIAL -en tr HP:0010603 IAO:0000115 A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour. Selim, tekli veya çoklu kistik, odontojenik kökenli parakeratinize tabakalanmış skuamöz epitelyum ve agresif, infiltratif davranış potansiyelli kemik içi bir tümör OFFICIAL +en tr HP:0010603 IAO:0000115 A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behavior. Selim, tekli veya çoklu kistik, odontojenik kökenli parakeratinize tabakalanmış skuamöz epitelyum ve agresif, infiltratif davranış potansiyelli kemik içi bir tümör CANDIDATE en tr HP:0010603 rdfs:label Odontogenic keratocysts of the jaw Çenenin odontojenik keratokistleri OFFICIAL en tr HP:0010604 rdfs:label Cyst of the eyelid Göz kapağı kisti OFFICIAL en tr HP:0010605 IAO:0000115 A chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland. A chalazion or meibomian cyst appears as a painless tuberous swelling in the upper lid without loss of eyelashes. Meibomiyan bezin bloke olmuş meibomiyan bez inflamasyonu tarafından meydana gelen kronik epiteloid hücre granülomatöz inflmasyonu. Bir kalazyon veya meibomiyan kist, kirpik kaybı olmaksızın üst göz kapağında ağrısız tüberoz bir şişlik olarak belirir OFFICIAL @@ -12315,7 +12315,7 @@ en tr HP:0010638 rdfs:label Elevated alkaline phosphatase of hepatic origin Yük en tr HP:0010639 IAO:0000115 An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. Alkalen fosfatazın kemik izoformlarının anormal bir düzeyde artışı, kanda spesifik olmayan doku izoenzimi CANDIDATE en tr HP:0010639 rdfs:label Elevated alkaline phosphatase of bone origin Yükselmiş kemik kökenli alkalen fosfataz OFFICIAL en tr HP:0010640 IAO:0000115 Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures). Burun boşluğu (boşluk burun deliklerini içerir ve ordan başlar ve boyunca uzanır ve koanaları ve arka burun açıklıklarını içerir) anormalliği OFFICIAL -en tr HP:0010640 rdfs:label Abnormality of the nasal cavity Nazal kavite anormalliği OFFICIAL +en tr HP:0010640 rdfs:label Abnormal nasal cavity morphology Nazal kavite anormalliği CANDIDATE en tr HP:0010641 IAO:0000115 Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae. Burun delikleri ve koana arasını içine alan boşluk olan orta burun boşluğu anormalliği OFFICIAL en tr HP:0010641 rdfs:label Abnormality of the midnasal cavity Orta nazal kavitenin anormalliği OFFICIAL en tr HP:0010643 IAO:0000115 Absence or abnormal closure of the midnasal cavity. Orta burun boşluğunun yokluğu veya anormal kapanması OFFICIAL @@ -12482,7 +12482,7 @@ en tr HP:0010731 IAO:0000115 The eyebrows extend towards - or even all the way d en tr HP:0010731 rdfs:label Extension of eyebrows towards upper eyelid Kaşların üst göz kapağına doğru uzanması OFFICIAL en tr HP:0010732 IAO:0000115 Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more. Göz kapaklarını etkileyen nodüler değişiklikler kistik lezyonlar (kalazi, hordeola), lipogranülomlar, melanomlar, enfeksiyöz hastalıklar (Molluscum contagiosum) ve daha bir çok farklı nedene sahip olabilir OFFICIAL en tr HP:0010732 rdfs:label Nodular changes affecting the eyelids Göz kapaklarını etkileyen nodüler değişiklikler OFFICIAL -en tr HP:0010733 IAO:0000115 Naevus flammeus localised in the skin of the eyelid. Göz kapağı derisinde yer alan nevüs flammeus OFFICIAL +en tr HP:0010733 IAO:0000115 Naevus flammeus localized in the skin of the eyelid. Göz kapağı derisinde yer alan nevüs flammeus CANDIDATE en tr HP:0010733 rdfs:label Naevus flammeus of the eyelid Göz kapaklarının nevüs flammeusu OFFICIAL en tr HP:0010734 IAO:0000115 Tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone or bones may be involved. Fibrous dysplasia can either effect isolated bones (Monostotic fibrous dysplasia) or also generalized all bones of the body (Polyostotic fibrous dysplasia). Tümör benzeri büyüme, medüller kemiğin fibröz doku ile değiştirilmesinden oluşur ve bu da kemik alanlarının genişlemesine ve zayıflamasına neden olur. Özellikle kafatası veya yüz kemiklerinde meydana geldiğinde, lezyonlar harici olarak görünür deformitelere neden olabilir. Kafatası sıklıkla etkilenir, ancak her defasında etkilenmez ve başka herhangi bir kemikte meydana gelebilir. Fibröz displazi ya izole kemiklere (Monostotik fibroz displazi) ya da vücudun tüm kemiklerinin genelleşmesine neden olabilir (Poliostotik fibröz displazi) CANDIDATE en tr HP:0010734 rdfs:label Fibrous dysplasia of the bones Kemiklerin fibröz displazisi OFFICIAL @@ -12640,7 +12640,7 @@ en tr HP:0010816 IAO:0000115 Epidermal naevi are due to an overgrowth of the epi en tr HP:0010816 rdfs:label Epidermal nevus Epidermal nevüs OFFICIAL en tr HP:0010817 IAO:0000115 A type of nevus sebaceous with a linear form, raised borders and yellowish color. Çizgisel formlu, sınırları yükselmiş ve sarımsı renkli bir çeşit nevüs sebaseus OFFICIAL en tr HP:0010817 rdfs:label Linear nevus sebaceous Doğrusal nevüs sebaseus OFFICIAL -en tr HP:0010818 IAO:0000115 A generalized tonic seizure is a type of generalized motor seizure characterised by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities. Bir kaç saniyeden dakikalar içinde sonlanan kas kasılmasında uzamış artış ile olan genel nöbetler CANDIDATE +en tr HP:0010818 IAO:0000115 A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities. Bir kaç saniyeden dakikalar içinde sonlanan kas kasılmasında uzamış artış ile olan genel nöbetler CANDIDATE en tr HP:0010818 rdfs:label Generalized tonic seizure Genel tonik nöbetler CANDIDATE en tr HP:0010819 IAO:0000115 Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature. Kas tonusunun ani kaybı veya azalması ile karakterize, parçalı bir segmente (ekstremiteler, çene, kafa) sınırlı veya masif, yere düşmeye yol açan nöbetler CANDIDATE en tr HP:0010819 rdfs:label Atonic seizure Atonik nöbetler CANDIDATE @@ -13196,17 +13196,17 @@ en tr HP:0011110 rdfs:label Recurrent tonsillitis Tonsillit CANDIDATE en tr HP:0011111 IAO:0000115 An abnormality of the concentration or function of circulating immune proteins. Dolaşan immün proteinlerin fonksiyonunda veya konsantrasyonunda bir anormallik OFFICIAL en tr HP:0011111 rdfs:label Abnormal immune serum protein physiology Serumda immün protein fizyolojisi anormalliği CANDIDATE en tr HP:0011112 IAO:0000115 Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells. Kanda sitokin seviyelerinin anormalliği, yani diğer hücrelerin davranışını etkileyen, inflamatuar lökositler ve bazı lökosit olmayan hücreler tarafından yapılan antikor olmayan proteinlerin herhangi bir anormalliği OFFICIAL -en tr HP:0011112 rdfs:label Abnormality of serum cytokine level Serum sitokin düzeyi anormalliği OFFICIAL +en tr HP:0011112 rdfs:label Abnormal circulating cytokine concentration Serum sitokin düzeyi anormalliği CANDIDATE en tr HP:0011113 IAO:0000115 An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells). Bir sitokinin (yani, diğer hücrelerin davranışını etkileyen, inflamatuar lökositler ve bazı lökosit olmayan hücreler tarafından yapılan antikor olmayan proteinler) üretiminde veya hücresel salınımında bir anormallik OFFICIAL en tr HP:0011113 rdfs:label Abnormality of cytokine secretion Sitokin salınımı anormalliği OFFICIAL en tr HP:0011114 IAO:0000115 An impairment in the production by leukocytes of NFKB1-dependent cytokines such as tumor necrosis factor-alpha and interferon-alpha. Tümör nekroz faktör alfa ve interferon alfa gibi NFKB1 bağımlı sitokinlerin lökositler tarafından üretiminde bir bozulma OFFICIAL en tr HP:0011114 rdfs:label Defective production of NFKB1-dependent cytokines NFKB1 bağımlı sitokinlerin bozuk üretimi OFFICIAL en tr HP:0011115 IAO:0000115 An abnormality in the production or cellular release of a chemokine (a class of cytokines). Bir kemokinin (bir sitokin sınıfı) üretiminde veya hücresel salınımında bir anormallik OFFICIAL -en tr HP:0011115 rdfs:label Abnormality of chemokine secretion Kemokin salınımı anormalliği OFFICIAL -en tr HP:0011116 IAO:0000115 An abnormality in the production or cellular release of interferons (a class of cytokines). İnterferonların (bir sitokin sınıfı) üretiminde veya hücresel salınımında bir anormallik OFFICIAL -en tr HP:0011116 rdfs:label Abnormality of interferon secretion İnterferon salınımı anormalliği OFFICIAL -en tr HP:0011117 IAO:0000115 An abnormality in the production or cellular release of interleukins (a class of cytokines). İnterlökinlerin (bir sitokin sınıfı) üretiminde veya hücresel salınımında anormallik OFFICIAL -en tr HP:0011117 rdfs:label Abnormality of interleukin secretion İnterlökin salınımı anormalliği OFFICIAL +en tr HP:0011115 rdfs:label Abnormal circulating chemokine concentration Kemokin salınımı anormalliği CANDIDATE +en tr HP:0011116 IAO:0000115 The concentration of an interferon is outside the limits of normal. İnterferonların (bir sitokin sınıfı) üretiminde veya hücresel salınımında bir anormallik CANDIDATE +en tr HP:0011116 rdfs:label Abnormal circulating interferon concentration İnterferon salınımı anormalliği CANDIDATE +en tr HP:0011117 IAO:0000115 The concentration of an interleukin (a class of cytokines) is outside the limits of normal. İnterlökinlerin (bir sitokin sınıfı) üretiminde veya hücresel salınımında anormallik CANDIDATE +en tr HP:0011117 rdfs:label Abnormal circulating interleukin concentration İnterlökin salınımı anormalliği CANDIDATE en tr HP:0011118 IAO:0000115 An abnormality in the production or cellular release of tumor necrosis factor. Tümör nekroz faktörün üretiminde veya hücresel salınımında bir anormallik OFFICIAL en tr HP:0011118 rdfs:label Abnormality of tumor necrosis factor secretion Tümör nekroz faktör salınımı anormalliği OFFICIAL en tr HP:0011119 IAO:0000115 An abnormality of the nasal dorsum, also known as the nasal ridge. Burun sırtı olarak da bilinen nazal dorsumun bir anormalliği OFFICIAL @@ -13263,11 +13263,11 @@ en tr HP:0011144 IAO:0000115 A type of age-related cataract consisting of granul en tr HP:0011144 rdfs:label Age-related posterior subcapsular cataract Yaş ilişkili posterior subkapsüler katarakt OFFICIAL en tr HP:0011145 IAO:0000115 A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed. Beyin hasarı bağlamında meydana gelen bir nöbet (sistemik, toksik, metabolik) ve altta yatan sebep ortadan kaldırıldığında yenilemeyebilir veya akut faz tamamlanmıştır OFFICIAL en tr HP:0011145 rdfs:label Symptomatic seizures Semptomatik nöbetler OFFICIAL -en tr HP:0011147 IAO:0000115 A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event. Tipik absanslar ani başlangıçlı ve ani bitişli bilinç bozukluğunun saniyeler kadar kısa sürdüğü generalize epileptik nöbetlerdir CANDIDATE +en tr HP:0011147 IAO:0000115 A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event. Tipik absanslar ani başlangıçlı ve ani bitişli bilinç bozukluğunun saniyeler kadar kısa sürdüğü generalize epileptik nöbetlerdir CANDIDATE en tr HP:0011147 rdfs:label Typical absence seizure Tipik absans nöbetleri OFFICIAL -en tr HP:0011149 IAO:0000115 An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterised by forced upward jerking of the eyelids during an absence seizure. Ek olarak göz kapağı myoklonisi ile karakterize absans nöbetleri CANDIDATE +en tr HP:0011149 IAO:0000115 An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterized by forced upward jerking of the eyelids during an absence seizure. Ek olarak göz kapağı myoklonisi ile karakterize absans nöbetleri CANDIDATE en tr HP:0011149 rdfs:label Absence seizure with eyelid myoclonia Göz kapağı myoklonili absans nöbetler OFFICIAL -en tr HP:0011150 IAO:0000115 Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterised by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017. Kolların ve omuzların EEG boşalımları ile senkronize olduğu, kolların ek tonik bileşenleri ile olan ek olarak ritmik bilateral myoklonus ile karakterize olan absans nöbetleri CANDIDATE +en tr HP:0011150 IAO:0000115 Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterized by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017. Kolların ve omuzların EEG boşalımları ile senkronize olduğu, kolların ek tonik bileşenleri ile olan ek olarak ritmik bilateral myoklonus ile karakterize olan absans nöbetleri CANDIDATE en tr HP:0011150 rdfs:label Myoclonic absence seizure Myoklonik absanslar CANDIDATE en tr HP:0011151 IAO:0000115 Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure. 30 dakikadan fazla süren atipik yokluk CANDIDATE en tr HP:0011151 rdfs:label Atypical absence status epilepticus Dikkatli olma durumu CANDIDATE @@ -13281,7 +13281,7 @@ en tr HP:0011157 IAO:0000115 A focal sensory seizure is a type seizure beginning en tr HP:0011157 rdfs:label Focal sensory seizure Fokal duyusal nöbetler OFFICIAL en tr HP:0011158 IAO:0000115 A seizure characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones as its first clinical manifestation. Uğultu, davul sesi veya tek ton hissi ile olan auralar CANDIDATE en tr HP:0011158 rdfs:label Focal sensory seizure with auditory features İşitsel auralar CANDIDATE -en tr HP:0011159 IAO:0000115 A type of focal autonomic seizure characterised by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature. Bulantı, boşluk, sıkılık, çalkalama, kelebekler, bitkinlik, ağrı ve açlık dahil hissin göğüse veya boğaza yükselebildiği abdominal rahatsızlık ile olan auralar. Bazı fenomenler iktal otonomik disfonksiyonu yansıtabilir CANDIDATE +en tr HP:0011159 IAO:0000115 A type of focal autonomic seizure characterized by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature. Bulantı, boşluk, sıkılık, çalkalama, kelebekler, bitkinlik, ağrı ve açlık dahil hissin göğüse veya boğaza yükselebildiği abdominal rahatsızlık ile olan auralar. Bazı fenomenler iktal otonomik disfonksiyonu yansıtabilir CANDIDATE en tr HP:0011159 rdfs:label Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena Epigastrik auralar CANDIDATE en tr HP:0011160 IAO:0000115 A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes as its first clinical manifestation. Asitli, ekşi, tuzlu, tatlı veya metalik tatları içeren tat hisli auralar CANDIDATE en tr HP:0011160 rdfs:label Focal sensory seizure with gustatory features Tatsal auralar CANDIDATE @@ -13289,14 +13289,14 @@ en tr HP:0011161 IAO:0000115 Seizures characterized by olfactory phenomena as it en tr HP:0011161 rdfs:label Focal sensory seizure with olfactory features Kokusal auralar CANDIDATE en tr HP:0011163 IAO:0000115 A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move as its first clinical manifestation. Karıncalanma, uyuşma, elektrik şok hissi, ağrı, hareket hissi veya hareket etme arzusu hisli auralar CANDIDATE en tr HP:0011163 rdfs:label Focal sensory seizure with somatosensory features Somatoduyusal auralar CANDIDATE -en tr HP:0011165 IAO:0000115 A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation. Işık çakması veya parlaması, noktalar, basit paternler, skotoma veya amorozis hisli auralar CANDIDATE +en tr HP:0011165 IAO:0000115 A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation. Işık çakması veya parlaması, noktalar, basit paternler, skotoma veya amorozis hisli auralar CANDIDATE en tr HP:0011165 rdfs:label Focal sensory seizure with visual features Görsel auralar CANDIDATE en tr HP:0011166 rdfs:label Focal myoclonic seizure Fokal myoklonik nöbetler CANDIDATE en tr HP:0011167 IAO:0000115 A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes. Bir kaç saniyeden dakikaya kadar sonlanan vücut kısımlarında kas kasılmasında uzamış artış ile olan nöbetler CANDIDATE en tr HP:0011167 rdfs:label Focal tonic seizure Fokal tonik nöbetler CANDIDATE en tr HP:0011168 IAO:0000115 Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures. Absans nöbetler bağlamında göz kapağı myoklonileri olmayan, göz kapağı myoklonisi ile olan fokal nöbetler OFFICIAL en tr HP:0011168 rdfs:label Focal seizure with eyelid myoclonia Göz kapağı myoklonileri CANDIDATE -en tr HP:0011169 IAO:0000115 Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups. 2-3 döngü/saniye frekansta aynı kas gruplarını içeren düzenli tekrar eden myoklonuslu nöbetler CANDIDATE +en tr HP:0011169 IAO:0000115 Generalized clonic seizure is a type of generalized motor seizure characterized by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups. 2-3 döngü/saniye frekansta aynı kas gruplarını içeren düzenli tekrar eden myoklonuslu nöbetler CANDIDATE en tr HP:0011169 rdfs:label Generalized clonic seizure Genel klonik nöbetler CANDIDATE en tr HP:0011170 IAO:0000115 A generalized myoclonic-atonic seizure is a type of generalized motor seizure characterized by a myoclonic jerk followed by an atonic motor component. Kafa, gövde, çene veya ekstremite kaslarını içine alan bir iki saniye veya daha fazla süren myoklonik veya tonik olay ile devam eden kas tonusunun ani kaybı veya azalması ile olan nöbetler CANDIDATE en tr HP:0011170 rdfs:label Generalized myoclonic-atonic seizure Myoklonik atonik nöbetler CANDIDATE @@ -13308,7 +13308,7 @@ en tr HP:0011173 IAO:0000115 A type of focal non-motor seizure characterized by en tr HP:0011173 rdfs:label Focal behavior arrest seizure Hipokinetik nöbetler CANDIDATE en tr HP:0011174 IAO:0000115 A focal seizure characterized at onset by predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrusting, thrashing, rocking movements. Pedallama, pelvik çırpınma, sallanma hareketleri gibi düzensiz sıralı balistik hareketler üreten baskın olarak proksimal uzuvlar veya aksiyal kasların dahil olduğu bir hareketin uygunsuz hızlı performansı veya devam eden bir hareketin hızında artma ile olan nöbetler CANDIDATE en tr HP:0011174 rdfs:label Focal hyperkinetic seizure Hiperkinetik nöbetler CANDIDATE -en tr HP:0011175 IAO:0000115 A type of focal motor seizure characterised by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation. Uzamış, zorlanmış konjuge oküler, sefalik ve/veya trunkal rotasyon veya orta hattan lateral deviasyon ile olan tonik nöbetler CANDIDATE +en tr HP:0011175 IAO:0000115 A type of focal motor seizure characterized by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation. Uzamış, zorlanmış konjuge oküler, sefalik ve/veya trunkal rotasyon veya orta hattan lateral deviasyon ile olan tonik nöbetler CANDIDATE en tr HP:0011175 rdfs:label Focal motor seizure with version Versif nöbetler CANDIDATE en tr HP:0011176 IAO:0000115 An EEG with constitutional variants contains waves that are rare or unusual but not generally pathologic. Nadir veya alışılmadık fakat genellikle patolojik olmayan yapısal varyantları içeren EEG OFFICIAL en tr HP:0011176 rdfs:label EEG with constitutional variants Yapısal varyantlı EEG OFFICIAL @@ -13664,7 +13664,7 @@ en tr HP:0011356 IAO:0000115 An abnormality of the skin that is restricted to a en tr HP:0011356 rdfs:label Regional abnormality of skin Derinin bölgesel anormalliği OFFICIAL en tr HP:0011358 IAO:0000115 Reduced pigmentation of hair diffusely. Yaygın olarak azalmış kıl pigmentasyonu OFFICIAL en tr HP:0011358 rdfs:label Generalized hypopigmentation of hair Genel kıl hipopigmentasyonu OFFICIAL -en tr HP:0011359 IAO:0000115 Hair that lacks the lustre (shine or gleam) of normal hair. Normal saç parıltısı (parlaklık veya ışıltı) eksik olan saç OFFICIAL +en tr HP:0011359 IAO:0000115 Hair that lacks the luster (shine or gleam) of normal hair. Normal saç parıltısı (parlaklık veya ışıltı) eksik olan saç CANDIDATE en tr HP:0011359 rdfs:label Dry hair Kuru saç OFFICIAL en tr HP:0011360 IAO:0000115 An abnormality of the distribution of hair growth that is acquired during the course of life. Yaşam boyunca edinilen saç büyümesi dağılımının bir anormalliği OFFICIAL en tr HP:0011360 rdfs:label Acquired abnormal hair pattern Kazanılmış anormal saç biçimi OFFICIAL @@ -13758,7 +13758,7 @@ en tr HP:0011409 rdfs:label Abnormal placental membrane morphology Plasental mem en tr HP:0011410 IAO:0000115 Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy). Abdominal duvar (laparotomi) ve uterin duvar (histerotomi) içinden yapılan cerrahi insizyon aracılığı ile fetusun doğumu OFFICIAL en tr HP:0011410 rdfs:label Caesarian section Sezeryan OFFICIAL en tr HP:0011411 rdfs:label Forceps delivery Forseps doğum OFFICIAL -en tr HP:0011412 IAO:0000115 Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately. Doğumun ikinci evresi uygun şekilde ilerlemediği zaman doğumu asiste etmek için kullanılan bir vakum cihazı olan vantuz aracılığı ile yenidoğanın doğumu OFFICIAL +en tr HP:0011412 IAO:0000115 Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labor has not progressed adequately. Doğumun ikinci evresi uygun şekilde ilerlemediği zaman doğumu asiste etmek için kullanılan bir vakum cihazı olan vantuz aracılığı ile yenidoğanın doğumu CANDIDATE en tr HP:0011412 rdfs:label Ventouse delivery Vakumlu doğum OFFICIAL en tr HP:0011413 IAO:0000115 Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex. Verteksin doğumunu takiben fetal ön omuzun maternal simfizislere takılması ile omuz distosisi meydana gelir OFFICIAL en tr HP:0011413 rdfs:label Shoulder dystocia Omuz distosisi OFFICIAL @@ -14657,7 +14657,7 @@ en tr HP:0011889 IAO:0000115 Significant bleeding or hemorrhage without signific en tr HP:0011889 rdfs:label Bleeding with minor or no trauma Küçük travma veya travma olmadan kanama OFFICIAL en tr HP:0011890 IAO:0000115 Prolonged or protracted bleeding following an invasive procedure or intervention. Girişimsel bir işlemi veya müdahaleyi takiben uzamış veya uzun süren kanama OFFICIAL en tr HP:0011890 rdfs:label Prolonged bleeding following procedure Prosedür sonrası uzamış kanama OFFICIAL -en tr HP:0011891 IAO:0000115 Significant maternal haemorrhage/blood loss following deilvery of a child. Doğumu takiben önemli maternal hemoraji/kan kaybı OFFICIAL +en tr HP:0011891 IAO:0000115 Significant maternal hemorrhage/blood loss following deilvery of a child. Doğumu takiben önemli maternal hemoraji/kan kaybı CANDIDATE en tr HP:0011891 rdfs:label Post-partum hemorrhage Postpartum kanama OFFICIAL en tr HP:0011892 rdfs:label Decreased circulating vitamin K concentration Vitamin K eksikliği CANDIDATE en tr HP:0011893 IAO:0000115 Number of leukocytes per volume of blood beyond normal limits. Hacim kan başına normal limitlerin ötesinde lökosit sayısı OFFICIAL @@ -14783,7 +14783,7 @@ en tr HP:0011954 IAO:0000115 Diffuse benign transformation of the hepatic parenc en tr HP:0011954 rdfs:label Nodular regenerative hyperplasia of liver Karaciğerin nodüler rejeneratif hiperplazisi OFFICIAL en tr HP:0011955 IAO:0000115 The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes. Patolojik incelemeye dayanan karaciğerde çoklu granülomlerın varlığı. Granülomlar 0.5'den 2 mm'ye değişen, sıklıkla lenfositler tarafından çevrelenen epiteloid hücreler olarak adlandırılan modifiye makrofaj birikimleridir OFFICIAL en tr HP:0011955 rdfs:label Hepatic granulomatosis Hepatik granülomatozis OFFICIAL -en tr HP:0011956 IAO:0000115 A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine. Bağırsağın lenfoproliferatif anormalliği, nadiren çapı 0.5 cm'yi aşan çok sayıda görünür mukozal nodül ile karakterizedir Histolojik olarak, büyük germinal merkezli hiperplastik lenfoid folliküller, lamina propriada yüzeyel submukozada görülür. Folikül merkezlerinin hiperplazisi nedeniyle mukozal B hücreli folliküllerin genişlemesi söz konusudur; normal görünen bir manto bölgesi ile çevrili. Hastalık, mideyi, tüm ince bağırsakları ve kalın bağırsağı etkileyebilir CANDIDATE +en tr HP:0011956 IAO:0000115 A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centers are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centers; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine. Bağırsağın lenfoproliferatif anormalliği, nadiren çapı 0.5 cm'yi aşan çok sayıda görünür mukozal nodül ile karakterizedir Histolojik olarak, büyük germinal merkezli hiperplastik lenfoid folliküller, lamina propriada yüzeyel submukozada görülür. Folikül merkezlerinin hiperplazisi nedeniyle mukozal B hücreli folliküllerin genişlemesi söz konusudur; normal görünen bir manto bölgesi ile çevrili. Hastalık, mideyi, tüm ince bağırsakları ve kalın bağırsağı etkileyebilir CANDIDATE en tr HP:0011956 rdfs:label Intestinal lymphoid nodular hyperplasia İntestinal lenfoid nodüler hiperplazi OFFICIAL en tr HP:0011957 IAO:0000115 An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major. Göğüs ön duvarının kalın, yelpaze şekilli kası pektoralis majörü ve pektoralis majör altında yer alan ince üçgen şekilli kas pektoralis minörü içeren pektoral kasın bir anormalliği OFFICIAL en tr HP:0011957 rdfs:label Abnormal pectoral muscle morphology Pektoral kas anormalliği CANDIDATE @@ -14989,7 +14989,7 @@ en tr HP:0012058 IAO:0000115 A type of melanoma that starts as a raised area tha en tr HP:0012058 rdfs:label Nodular melanoma Nodüler melanoma OFFICIAL en tr HP:0012059 IAO:0000115 A subtype of melanoma in situ that typically develops on sun-damaged skin. The lesion is typically a large, irregularly pigmented macule that has developed from an ordinary lentigo (a small pigmented spot on the skin with a clearly-defined edge). Change to a malignant lentigo typically takes place over 20 years or more, and many patients accept the change as a consequence of aging. Genellikle güneş tarafından hasar görmüş cilt üzerinde gelişen in situ melanom alt tipi. Lezyon tipik olarak, sıradan bir lengitodan (açıkça tanımlanmış bir kenarı olan ciltte küçük pigmentli bir nokta) gelişen büyük, düzensiz pigmentli bir maküldür. bu legintodaki değişiklikler, tipik olarak 20 yıl veya daha fazla sürede gerçekleşir ve birçok hasta bu değişikliği yaşlanmanın bir sonucu olarak kabul eder CANDIDATE en tr HP:0012059 rdfs:label Lentigo maligna melanoma Lentigo maligna melanoma OFFICIAL -en tr HP:0012060 IAO:0000115 A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed. Avuç içine, ayak tabanına veya tırnak altına yerleşen bir kutanöz melanom türü (subungual melanoma). Akral desenli melanom, yavaş yavaş büyüyen, renksiz bir cilt yassı leke olarak başlar ve genellikle kahverengi, mavi-gri, siyah ve kırmızı tonları içeren bir renk karışımı değişken pigmentasyon ve tanıya göre çapı 6 mm'nin üzerinde ve çoğunlukla birkaç santimetre veya daha fazla bir boyut gösterir. Lezyonun yüzeyi başlangıçta pürüzsüzdür, ancak ilerleyen kısımda daha kalın ve düzensiz olabilir ve ülsere dönüşebilir veya kanayabilir CANDIDATE +en tr HP:0012060 IAO:0000115 A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discolored skin and usually displays a size above 6 mm and often several centimeters or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed. Avuç içine, ayak tabanına veya tırnak altına yerleşen bir kutanöz melanom türü (subungual melanoma). Akral desenli melanom, yavaş yavaş büyüyen, renksiz bir cilt yassı leke olarak başlar ve genellikle kahverengi, mavi-gri, siyah ve kırmızı tonları içeren bir renk karışımı değişken pigmentasyon ve tanıya göre çapı 6 mm'nin üzerinde ve çoğunlukla birkaç santimetre veya daha fazla bir boyut gösterir. Lezyonun yüzeyi başlangıçta pürüzsüzdür, ancak ilerleyen kısımda daha kalın ve düzensiz olabilir ve ülsere dönüşebilir veya kanayabilir CANDIDATE en tr HP:0012060 rdfs:label Acral lentiginous melanoma Akral lentiginöz melanom OFFICIAL en tr HP:0012061 IAO:0000115 Excretion of oligosaccharides conjugated to sialic acid in the urine. İdrarda sialik aside konjuge oligosakkaritlerin atılması OFFICIAL en tr HP:0012061 rdfs:label Urinary excretion of sialylated oligosaccharides Sialiye olmuş oligosakkaritlerin idrar atılımı OFFICIAL @@ -15124,7 +15124,7 @@ en tr HP:0012126 IAO:0000115 A cancer arising in any part of the stomach. Mideni en tr HP:0012126 rdfs:label Stomach cancer Mide kanseri OFFICIAL en tr HP:0012127 IAO:0000115 Increased concentration of uracil in the urine. İdrarda artmış urasil konsantrasyonu OFFICIAL en tr HP:0012127 rdfs:label Uraciluria Urasilüri OFFICIAL -en tr HP:0012128 IAO:0000115 Death of cells in the basal ganglia. Bazal gangliyada hücrelerin ölümleri OFFICIAL +en tr HP:0012128 IAO:0000115 Death of cells in the basal ganglia. This finding can be confirmed by autopsy. It can be suspected with hyperintensities within the basal ganglia on FLAIR and T2-sequences on magnetic resonance imaging. Bazal gangliyada hücrelerin ölümleri CANDIDATE en tr HP:0012128 rdfs:label Basal ganglia necrosis Bazal gangliya nekrozu OFFICIAL en tr HP:0012129 rdfs:label Abnormality of bone marrow stromal cells Kemik iliği stromal hücrelerinin anormalliği OFFICIAL en tr HP:0012130 IAO:0000115 An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes. Seride eritrositlere dönüşecek ve eritrositleri içeren eritropoetik hücreler olan eritroid hücreler serisinin bir anomalisi OFFICIAL @@ -15821,7 +15821,7 @@ en tr HP:0012488 IAO:0000115 An arachnoid cyst located within the ventricular sy en tr HP:0012488 rdfs:label Intraventricular arachnoid cyst İntraventriküler araknoid kist OFFICIAL en tr HP:0012489 IAO:0000115 An arachnoid cyst that progressively enlarges from an abnormality in the membrane of Liliequist or in the interpeduncular cistern, and typically, expands from the prepontine space, displacing the floor of the third ventricle upwards, the pituitary stalk and optic chiasm upwards and forwards, and the mammillary bodies upwards and backwards. Lakiekisk membranındaki veya interpedunküler sarnıçtaki bir anormallikten kaynaklanan ve zaman geçtikçe büyüyen ve tipik olarak prepontin alanından genişleyen, üçüncü ventrikülün zemini yukarı doğru, pituitary sapında ve optik bozulmayı yukarıya ve ileriye doğru kaydıran bir araknoid kist aynı zamanda memeli gövdelerinde yukarıya ve geriye doğru genişler CANDIDATE en tr HP:0012489 rdfs:label Suprasellar arachnoid cyst Suprasellar araknoid kist OFFICIAL -en tr HP:0012490 IAO:0000115 Inflammation of adipose tissue. Adipoz doku inflamasyonu OFFICIAL +en tr HP:0012490 IAO:0000115 Inflammation of subcutaneous adipose tissue. Adipoz doku inflamasyonu CANDIDATE en tr HP:0012490 rdfs:label Panniculitis Pannikülit OFFICIAL en tr HP:0012491 IAO:0000115 An anomaly of the intracellular membrane complexes known as the dense tubular system. Yoğun tübüler sistem olarak da bilinen hücre içi membran kompleksinin bir anomalisi OFFICIAL en tr HP:0012491 rdfs:label Abnormal dense tubular system Anormal yoğun tübüler sistem OFFICIAL @@ -15875,8 +15875,8 @@ en tr HP:0012515 IAO:0000115 Reduced ability to flex the femur, that is, to pull en tr HP:0012515 rdfs:label Hip flexor weakness Kalça fleksör zayıflığı OFFICIAL en tr HP:0012516 IAO:0000115 An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries. Sağ ventrikülden pulmoner arterlere akım yokluğu ile karakterize Fallot tetralojisinin aşırı bir formu OFFICIAL en tr HP:0012516 rdfs:label Tetralogy of Fallot with pulmonary atresia Pulmoner atrezili Fallot tetralojisi OFFICIAL -en tr HP:0012517 IAO:0000115 An abnormally decreased amount of catalase level. Anormal olarak azalmış miktarda katalaz aktivitesi CANDIDATE -en tr HP:0012517 rdfs:label Reduced catalase level Azalmış katalaz aktivitesi CANDIDATE +en tr HP:0012517 IAO:0000115 Activity or concentration of catalase in the blood circulation below the lower limit of normal. Anormal olarak azalmış miktarda katalaz aktivitesi CANDIDATE +en tr HP:0012517 rdfs:label Reduced circulating catalase activity Azalmış katalaz aktivitesi CANDIDATE en tr HP:0012518 IAO:0000115 An anomaly of the circle of Willis, also known as the cerebral arterial circle. Serebral arteriyel poligon olarak da bilinen Willis poligonunun bir anomalisi OFFICIAL en tr HP:0012518 rdfs:label Abnormal circle of Willis morphology Willis çemberi anormalliği OFFICIAL en tr HP:0012519 IAO:0000115 A developmental anomnaly characterized by underdevelopment of the posterior communicating artery. Tam gelişmemiş posterior kommunikan arter CANDIDATE @@ -15893,7 +15893,7 @@ en tr HP:0012524 IAO:0000115 A deviation from the normal discoid platelet shape. en tr HP:0012524 rdfs:label Abnormal platelet shape Anormal platelet şekli OFFICIAL en tr HP:0012525 IAO:0000115 An anomalous location and arrangement of platelet alpha granules. Platelet alfa granüllerinin anomalili lokasyonu ve düzenlenmesi OFFICIAL en tr HP:0012525 rdfs:label Abnormal alpha granule distribution Anormal alfa granül dağılımı OFFICIAL -en tr HP:0012526 IAO:0000115 A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears. Platelet alfa granüllerinin yokluğu. Bu tipik olarak plateletlerin giemsa boyalı kan sürüntüsünde gri gözükmesi ile sonuçlanır OFFICIAL +en tr HP:0012526 IAO:0000115 A lack of platelet alpha granules. This typically results in the gray appearance of platelets in giemsa stained blood smears. Platelet alfa granüllerinin yokluğu. Bu tipik olarak plateletlerin giemsa boyalı kan sürüntüsünde gri gözükmesi ile sonuçlanır CANDIDATE en tr HP:0012526 rdfs:label Absence of alpha granules Alfa granüllerin yokluğu OFFICIAL en tr HP:0012527 IAO:0000115 A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor. Normal olarak fibrinojen, von Willebrand faktör ve platelet kökenli büyüme faktörleri gibi büyüme faktörleri gibi hemostatik proteinleri içeren platelet alfa granüllerinin normal içeriklerinden bir sapma OFFICIAL en tr HP:0012527 rdfs:label Abnormal alpha granule content Anormal alfa granül içeriği OFFICIAL @@ -16426,7 +16426,7 @@ en tr HP:0012794 IAO:0000115 Multiple areas of darker than expected signal on ma en tr HP:0012794 rdfs:label Periventricular white matter hypodensities Periventriküler beyaz cevher hipodensiteleri OFFICIAL en tr HP:0012795 IAO:0000115 A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination. Fundoskopik muayenede optik sinirin klinik olarak gözlenebilen kısmı yani optik diskin morfolojik bir anormalliği OFFICIAL en tr HP:0012795 rdfs:label Abnormal optic disc morphology Optik disk anormalliği CANDIDATE -en tr HP:0012796 IAO:0000115 An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells. Optik disk çukurluğunun çapının diskin toplam çapına oranındaki yükselme. Optik diskte, nöroretinal doku içermeyen, soluk bir merkezi (çukurluğu) olan turuncu-pembe bir çerçeve bulunur. Bu orandaki artış, sağlıklı nöroretinal hücrelerin miktarında bir düşüş olduğunu gösterebilir CANDIDATE +en tr HP:0012796 IAO:0000115 An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disk. The optic disc has an orange-pink rim with a pale center (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells. Optik disk çukurluğunun çapının diskin toplam çapına oranındaki yükselme. Optik diskte, nöroretinal doku içermeyen, soluk bir merkezi (çukurluğu) olan turuncu-pembe bir çerçeve bulunur. Bu orandaki artış, sağlıklı nöroretinal hücrelerin miktarında bir düşüş olduğunu gösterebilir CANDIDATE en tr HP:0012796 rdfs:label Increased cup-to-disc ratio Artmış çukurluk disk oranı OFFICIAL en tr HP:0012797 IAO:0000115 A benign or malignant neoplasm arising from the lymphatic vessels. Lenfatik damarlardan köken alan selim veya kötü huylu bir neoplazi OFFICIAL en tr HP:0012797 rdfs:label Lymphatic vessel neoplasm Lenfatik damar neoplazmı OFFICIAL @@ -16660,7 +16660,7 @@ en tr HP:0020038 IAO:0000115 Elongation, dilatation, and/or tortuosity of the ve en tr HP:0020038 rdfs:label Vertebrobasilar dolichoectasia Vertebrobaziler dolikoektazi OFFICIAL en tr HP:0020041 IAO:0000115 A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia. Kısıtlı elevasyon ve hipotropiyaya yol açan, aynı gözün her iki elevator kasının (yani inferior oblik ve superior rektus kasları) zayıf olduğu bir inkomitant strabismus tipi OFFICIAL en tr HP:0020041 rdfs:label Double elevator palsy Çift elevatör felci OFFICIAL -en tr HP:0020042 IAO:0000115 An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye. Aynı gözün inferior rektus kasının ve superior oblik kasının eş zamanlı zayıflığı ile karakterize bir oküler hareket anormalliği OFFICIAL +en tr HP:0020042 IAO:0000115 An ocular movement abnormality characterized by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye. Aynı gözün inferior rektus kasının ve superior oblik kasının eş zamanlı zayıflığı ile karakterize bir oküler hareket anormalliği CANDIDATE en tr HP:0020042 rdfs:label Double depressor palsy Çift depresör felci OFFICIAL en tr HP:0020043 IAO:0000115 A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts upwards and/or downwards. Hastanın bakışı yukarı ve/veya aşağı kaydıkça sapma açısının değiştiği bir inkomitant strabismus tipi OFFICIAL en tr HP:0020043 rdfs:label Vertical incomitant strabismus Dikey olarak inkomitan strabismus OFFICIAL @@ -16689,8 +16689,8 @@ en tr HP:0020061 IAO:0000115 Any deviation from the normal concentration of hemo en tr HP:0020061 rdfs:label Abnormal hemoglobin concentration Anormal hemoglobin konsantrasyonu OFFICIAL en tr HP:0020062 IAO:0000115 An abnormal reduction below normal hemoglobin concentration in the circulation. Dolaşımda normal hemoglobin konsantrasyonu altına anormal bir düşüş OFFICIAL en tr HP:0020062 rdfs:label Decreased hemoglobin concentration Azalmış hemoglobin konsantrasyonu OFFICIAL -en tr HP:0020063 IAO:0000115 An abnormal elevation above normal hemoglobin concentration in the circulation. Dolaşımda normal hemoglobin konsantrasyonu üstüne anormal bir yükselme OFFICIAL -en tr HP:0020063 rdfs:label Increased hemoglobin concentration Artmış hemoglobin konsantrasyonu OFFICIAL +en tr HP:0020063 IAO:0000115 An abnormal elevation above normal hemoglobin concentration in the circulation Dolaşımda normal hemoglobin konsantrasyonu üstüne anormal bir yükselme OFFICIAL +en tr HP:0020063 rdfs:label obsolete Increased hemoglobin concentration Artmış hemoglobin konsantrasyonu CANDIDATE en tr HP:0020064 IAO:0000115 Any deviation from the normal number of eosinophils per volume in the blood circulation. Dolaşımda hacim başına eozinofillerin normal sayısından herhangi bir sapma OFFICIAL en tr HP:0020064 rdfs:label Abnormal eosinophil count Anormal eozinofil sayımı OFFICIAL en tr HP:0020071 IAO:0000115 The presence of virus in the blood. Kanda virüs varlığı OFFICIAL @@ -16884,7 +16884,7 @@ en tr HP:0025103 IAO:0000115 A type of skin nodule that has a small depression t en tr HP:0025103 rdfs:label Umbilicated nodule Göbekli nodül OFFICIAL en tr HP:0025104 IAO:0000115 A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules). Kılcal malformasyon, deride, düz, keskin şekilde tanımlanmış damarlı bir lekedir. Geniş bir yüzey alanını kaplayabilir veya dağılıp küçük renkli yerler olarak görülebilir. Kılcal bir oluşumda, baskın damarlar, küçük, yavaş akan damarlardır (yani arterioller ve kılcal damarlar gibi) CANDIDATE en tr HP:0025104 rdfs:label Capillary malformation Kapiller malformasyon OFFICIAL -en tr HP:0025105 IAO:0000115 A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anaemic spots. Düzensiz hipopigmente maküller ile karakterize konjenital bir cilt lezyonu, plaklar oluşturmak için birleşir ve özellikle göğüs bölgesinde görülür. Genellikle doğumda ya da yaşamın ilk günlerinde gelişir. Kadınlarda daha sık görülür. Tanı, lezyona ve çevreleyen deriye hafif sürtünme uygulayarak ve sağlıklı deride üretilen eritemin hipopigmente lezyonda görünmediğini kontrol ederek teyit edilir. Bu soluk makül, lezyon ve çevresi ovulduğunda daha belirgin hale gelir. Küçük anemik noktalar adasından oluşan nevüsün marjı tam tanımlanmıştır CANDIDATE +en tr HP:0025105 IAO:0000115 A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anemic spots. Düzensiz hipopigmente maküller ile karakterize konjenital bir cilt lezyonu, plaklar oluşturmak için birleşir ve özellikle göğüs bölgesinde görülür. Genellikle doğumda ya da yaşamın ilk günlerinde gelişir. Kadınlarda daha sık görülür. Tanı, lezyona ve çevreleyen deriye hafif sürtünme uygulayarak ve sağlıklı deride üretilen eritemin hipopigmente lezyonda görünmediğini kontrol ederek teyit edilir. Bu soluk makül, lezyon ve çevresi ovulduğunda daha belirgin hale gelir. Küçük anemik noktalar adasından oluşan nevüsün marjı tam tanımlanmıştır CANDIDATE en tr HP:0025105 rdfs:label Nevus anemicus Nevüs anemikus OFFICIAL en tr HP:0025106 IAO:0000115 A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life. Porto şarabı lekesinin bir varyantı, porto şarabı lekesinin daha koyu tonunun aksine soluk kırmızı veya pembe ton ile karakterize edilir. Porto şarabı lekesi terimi, bu gül-şarap tonunun varyantı olan leke, yada nevus roseus ile benzerlik gösterir. Bununla birlikte, Nevus roseus, yetişkinliğe kadar kesinlikle teşhis edilemez, çünkü Porto şarabı rengindeki lekeler, bazen çocuklarda pembe olur. Porto şarabı lekelerinin doğal geçmişi aşırı büyüme, koyulaşma ve nodülarite içerirken, nevus roseus ömür boyunca aynı kalır CANDIDATE en tr HP:0025106 rdfs:label Nevus roseus Nevüs roseus OFFICIAL @@ -17034,11 +17034,11 @@ en tr HP:0025181 IAO:0000115 An abscess-like lesion located within the abdomen. en tr HP:0025181 rdfs:label Abdominal aseptic abscess Abdominal aseptik apse OFFICIAL en tr HP:0025182 IAO:0000115 A confined region of lax skin that hangs below the level of the surrounding skin. Histopatholigically, there is a loss of elastic fibers in the dermis of the affected region. Çevreleyen deri seviyesinden aşağıda asılı olan sınırlı bir gevşek deri bölgesi. Histopatolojik olarak, etkilenmiş bölgenin dermisinde elastik lif kaybı vardır OFFICIAL en tr HP:0025182 rdfs:label Localized area of pendulous skin Lokalize pendüloz deri sahaları OFFICIAL -en tr HP:0025186 IAO:0000115 Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing. Üst göz kapağı kasılması ve dış veya iç pterigoid kasının kasılmasına bağlı unilateral pitozis. Beşinci kranyal sinir dalının levator kasını sağlayan üçüncü kranyal sinir dalına konjenital olarak hatalı bağlanması nedeniyle rastlandığı düşünülmektedir. Marcus Gunn çene göz kırpma sinkinezisinde, etkilenmiş göz kapağının yükselmesi ve hatta geri çekilmesi, çiğneme, emme, yanal mandibüla hareketi, gülümseme, sternokleidomastoyid kontraksiyon, çıkıntılı dilde, Valsalva manevrası ve hatta solunum yoluyla tetiklenir CANDIDATE +en tr HP:0025186 IAO:0000115 Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva maneuver and even by breathing. Üst göz kapağı kasılması ve dış veya iç pterigoid kasının kasılmasına bağlı unilateral pitozis. Beşinci kranyal sinir dalının levator kasını sağlayan üçüncü kranyal sinir dalına konjenital olarak hatalı bağlanması nedeniyle rastlandığı düşünülmektedir. Marcus Gunn çene göz kırpma sinkinezisinde, etkilenmiş göz kapağının yükselmesi ve hatta geri çekilmesi, çiğneme, emme, yanal mandibüla hareketi, gülümseme, sternokleidomastoyid kontraksiyon, çıkıntılı dilde, Valsalva manevrası ve hatta solunum yoluyla tetiklenir CANDIDATE en tr HP:0025186 rdfs:label Marcus Gunn jaw winking synkinesis Marcus Gunn çene kırpması sinkinezisi OFFICIAL en tr HP:0025188 IAO:0000115 Inflammation of retinal blood vessels as manifested by perivascular sheathing or cuffing, vascular leakage and/or occlusion. Perivasküler kılıflanma veya kelepçelenme, vasküler kaçak ve/veya oklüzyon ile ortaya çıkan retinal kan damarlarının inflamasyonu OFFICIAL en tr HP:0025188 rdfs:label Retinal vasculitis Retinal vaskülit OFFICIAL -en tr HP:0025190 IAO:0000115 A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterised by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure. Meydana gelen ve hızla bilateral dağılımlı ağların içine giren generalize tonik-klonik bir nöbet tipi CANDIDATE +en tr HP:0025190 IAO:0000115 A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterized by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure. Meydana gelen ve hızla bilateral dağılımlı ağların içine giren generalize tonik-klonik bir nöbet tipi CANDIDATE en tr HP:0025190 rdfs:label Bilateral tonic-clonic seizure with generalized onset Fokal başlangıç olmadan olan genel tonik klonik nöbetler CANDIDATE en tr HP:0025192 IAO:0000115 Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the fourth cerebral ventricle (which is located beneath the tentorium of the cerebellum). Manyetik rezonans görüntülemede dördüncü serebral ventrikülü (serebellum tentoriyumunun altında yer alan) çevreleyen serebral beyaz cevherden kaynaklanan beklenenden daha açık renkte sinyal alanları OFFICIAL en tr HP:0025192 rdfs:label Subtentorial periventricular white matter hyperdensity Subtentoriyal periventriküler beyaz cevher hiperdensitesi OFFICIAL @@ -17412,13 +17412,13 @@ en tr HP:0025387 IAO:0000115 A type of resting tremor characterized by simultane en tr HP:0025387 rdfs:label Pill-rolling tremor Hap yuvarlama tremoru OFFICIAL en tr HP:0025388 IAO:0000115 "A nodular lesion that develops in the thyroid gland. The term ""thyroid nodule"" refers to any abnormal growth that forms a lump in the thyroid gland." "Tiroid bezinde gelişen nodüler bir lezyon. ""Tiroid nodülü"" terimi tiroid bezinde bir kitle oluşturan herhangi bir anormal büyümeye denir" OFFICIAL en tr HP:0025388 rdfs:label Thyroid nodule Tiroid nodülü OFFICIAL -en tr HP:0025389 IAO:0000115 High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities. Yüksek çözünürlüklü bilgisayarlı tomografi (YÇBT) diğer modaliteler ile mümkün olmayan şekilde intersitisyel akciğer hastalıklarını karakterize eden bulguları ayırt edebilir OFFICIAL +en tr HP:0025389 IAO:0000115 High-resolution computed tomography (HRCT) can distinguish findings that characterize characterize interstitial lung diseases in a way not possible with other modalities. Yüksek çözünürlüklü bilgisayarlı tomografi (YÇBT) diğer modaliteler ile mümkün olmayan şekilde intersitisyel akciğer hastalıklarını karakterize eden bulguları ayırt edebilir CANDIDATE en tr HP:0025389 rdfs:label Pulmonary interstitial high-resolution computed tomography abnormality Pulmoner interstisyel yüksek çözünürlüklü bilgisayarlı tomografi anormalliği OFFICIAL -en tr HP:0025390 IAO:0000115 On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh. Pulmoner interstisyel yüksek çözünürlüklü bilgisayarlı tomografide retiküler patern bir ağı andıran birbiri içine geçmiş sayısız gölge ile karakterizedir OFFICIAL +en tr HP:0025390 IAO:0000115 On pulmonary high-resolution computed tomography, reticular pattern is characterized by innumerable interlacing shadows suggesting a mesh. Pulmoner interstisyel yüksek çözünürlüklü bilgisayarlı tomografide retiküler patern bir ağı andıran birbiri içine geçmiş sayısız gölge ile karakterizedir CANDIDATE en tr HP:0025390 rdfs:label Reticular pattern on pulmonary HRCT Pulmoner YÇBT'de retiküler patern OFFICIAL en tr HP:0025391 IAO:0000115 The so-called crazy paving pattern appears as thickened interlobular septa and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones. The crazy-paving pattern is often sharply demarcated from more normal lung and may have a geographic outline. It was originally reported in patients with alveolar proteinosis and is also encountered in other diffuse lung diseases that affect both the interstitial and airspace compartments, such as lipoid pneumonia. Sözde karmaşık taş döşeme kalıbı, kalınlaşmış interlobüler septaların varlığı tarafından HRTC üzerine karakterizedir ve zemin cam mantıksızlığının arka planına eklenen intralobüler çizgiler, düzensizce şekillenmiş kaldırım taşlarına benzer CANDIDATE en tr HP:0025391 rdfs:label Crazy paving pattern Pulmoner YÇBT'de arnavut kaldırımı paterni CANDIDATE -en tr HP:0025392 IAO:0000115 A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter. Nodüler bir kalıp, pulmoner yüksek çözünürlüklü bilgisayarlı tomografide, çapı 3 mm'den küçük olarak tanımlanmış miktonodüllerle çapları 2 mm'den 1 cm'ye kadar sayısız yuvarlaklaştırılan opasitenin varlığı ile karakterizedir CANDIDATE +en tr HP:0025392 IAO:0000115 A nodular pattern is characterized on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter. Nodüler bir kalıp, pulmoner yüksek çözünürlüklü bilgisayarlı tomografide, çapı 3 mm'den küçük olarak tanımlanmış miktonodüllerle çapları 2 mm'den 1 cm'ye kadar sayısız yuvarlaklaştırılan opasitenin varlığı ile karakterizedir CANDIDATE en tr HP:0025392 rdfs:label Nodular pattern on pulmonary HRCT Pulmoner YÇBT'de nodüler patern OFFICIAL en tr HP:0025393 IAO:0000115 Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography. Pulmoner interstisyel yüksek çözünürlüklü bilgisayarlı tomografide retiküler ve mikronodüler paternlerin eş zamanlı meydana gelmesi OFFICIAL en tr HP:0025393 rdfs:label Reticulonodular pattern on pulmonary HRCT Pulmoner YÇBT'de retikülonodüler patern OFFICIAL @@ -17677,7 +17677,7 @@ en tr HP:0025529 IAO:0000115 A nodule of the skin that exhibits an increased amo en tr HP:0025529 rdfs:label Hyperpigmented nodule Hiperpigmente nodül OFFICIAL en tr HP:0025530 IAO:0000115 The presence of multiple xanthomas (xanthomata) in the skin distributed in the creases of the palm of the hand. Xanthomas are yellowish, firm, lipid-laden nodules in the skin. Çoklu ksantomların (ksantomata) deride avuç çizgilerinde dağılmış varlığı. Ksantomlar deride sarımsı, sert, lipid yüklü nodüllerdir OFFICIAL en tr HP:0025530 rdfs:label Xanthomas of the palmar creases Palmar çizgilerin ksantoması OFFICIAL -en tr HP:0025531 IAO:0000115 The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body. Her bir vücut yarısında iki farklı vücut rengi ile sonuçlanan deri renginde ani bir değişimi içeren Harlequin fenomeni OFFICIAL +en tr HP:0025531 IAO:0000115 The Harlequin phenomenon consists of a sudden change in skin color, resulting in two different body colors, one on each half of the body. Her bir vücut yarısında iki farklı vücut rengi ile sonuçlanan deri renginde ani bir değişimi içeren Harlequin fenomeni CANDIDATE en tr HP:0025531 rdfs:label Harlequin phenomenon Palyaço fenomeni OFFICIAL en tr HP:0025532 IAO:0000115 With the pathergy test, a small, sterile needle is inserted into the skin of the forearm. The site of injectionis circuled and observed after one and two days. If a small red bump or pustule at the site of needle insertion occurs, the pathergy test is considered to have a positive (abnormal) result. Paterji testi ile ön kol derisine küçük, steril bir iğne yerleştirilir. Enjeksiyonu bölgesi lan dolaşımı sağlandı ve birinci ve ikinci günden sonra gözlemlendi. İğne yerleştirme bölgesinde küçük bir kırmızı şişlik ya da püstül oluşursa, paterji testinin pozitif (anormal) sonuca sahip olduğu kabul edilir CANDIDATE en tr HP:0025532 rdfs:label Positive pathergy test Pozitif paterji testi OFFICIAL @@ -17717,7 +17717,7 @@ en tr HP:0025555 IAO:0000115 Telangiectasia (small dilated blood vessels) locate en tr HP:0025555 rdfs:label Periungual teleangiectasia Periungual telenjiektazi OFFICIAL en tr HP:0025558 IAO:0000115 Lamellar cataracts with associated linear lens opacities radially extending towards the periphery of the lens. Lensin periferine doğru ışınsal olarak uzanan çizgisel lens opasiteleri ile ilişkili lameller kataraktlar OFFICIAL en tr HP:0025558 rdfs:label Lamellar cataract with riders Destekli lamellar katarakt OFFICIAL -en tr HP:0025559 IAO:0000115 A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown. Derin kortekste ışınsal olarak dağılan çomak şekilli ve nokta opasiteleri ile karakterize bir katarakt tipi. Bu lens opasiteleri bir tacı andıran görünümde nükleusu çevreler OFFICIAL +en tr HP:0025559 IAO:0000115 A type of cataract characterized by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown. Derin kortekste ışınsal olarak dağılan çomak şekilli ve nokta opasiteleri ile karakterize bir katarakt tipi. Bu lens opasiteleri bir tacı andıran görünümde nükleusu çevreler CANDIDATE en tr HP:0025559 rdfs:label Coronary cataract Koroner katarakt OFFICIAL en tr HP:0025560 IAO:0000115 Tiny deposits corresponding to cells floating in the anterior chamber of the eye. This appearance is typically associated with intraocular inflammation leading to breakdown of the blood-aqueous barrier and resulting in an increase in the number of cells and in the aqueous humor. Grading (SUN Working Group) is performed by estimating the number of cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. Gözün ön bölmesinde serbest halde bulunan hücreleri tanımlayan küçük tortulardır. Bu görünüm, alışagelmiş şekilde, sulu bir kan bariyerin bozulmasına yol açan intraoküler inflamasyon ile ilişkilidir ve hücrelerin sayısının sudaki konsantrasyonunun artmasına sebep olur. Derecelendirmeler (GÜNEŞ Çalışma Grubu), 1 mm ye 1 mm yarık alanındaki hücrelerin sayısı hakkında tahminde bulunarak, bir yarık lamba üzerinde yeterli ışık şiddeti ve büyütme kullanılarak gerçekleştirilir CANDIDATE en tr HP:0025560 rdfs:label Anterior chamber cells Ön kamara hücreleri OFFICIAL @@ -17733,14 +17733,14 @@ en tr HP:0025565 IAO:0000115 Anterior chamber cells with 26-50 cells in a 1 mm b en tr HP:0025565 rdfs:label Anterior chamber cells grade 3+ Ön kamara hücreleri derece 3+ OFFICIAL en tr HP:0025566 IAO:0000115 Anterior chamber cells with more than 50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. Yarık ışıkta uygun ışık yoğunluğu ve büyütme uygulandığında 50 hücreden daha fazla, 1 mm'ye 1 mm yarık ışın alanında ön kamara hücreleri OFFICIAL en tr HP:0025566 rdfs:label Anterior chamber cells grade 4+ Ön kamara hücreleri derece 4+ OFFICIAL -en tr HP:0025567 IAO:0000115 An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the centre of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months. Retina pigment epitelyumunun (RPE) bir veya daha fazla odak lezyonunda ortanca olan ve genellikle yalnızca bir gözde sadece bulutlu görme ile bağlantısı olan nörosensor retinanın serumlu dekolmanı ile retinanın anomalisi tipik olarak hasta tarafından mikroskop ve metamorfopsinin bağlantılı olduğu görme alanının merkezinde karanlık bir nokta olarak görülür. Normal görüş, birkaç ay içinde sıklıkla kendiliğinden tekrar eder CANDIDATE +en tr HP:0025567 IAO:0000115 An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the center of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months. Retina pigment epitelyumunun (RPE) bir veya daha fazla odak lezyonunda ortanca olan ve genellikle yalnızca bir gözde sadece bulutlu görme ile bağlantısı olan nörosensor retinanın serumlu dekolmanı ile retinanın anomalisi tipik olarak hasta tarafından mikroskop ve metamorfopsinin bağlantılı olduğu görme alanının merkezinde karanlık bir nokta olarak görülür. Normal görüş, birkaç ay içinde sıklıkla kendiliğinden tekrar eder CANDIDATE en tr HP:0025567 rdfs:label Central serous chorioretinopathy Santral seröz koryoretinopati OFFICIAL en tr HP:0025568 rdfs:label Abnormal morphology of the choroidal vasculature Koroidal damarların anormal morfolojisi OFFICIAL en tr HP:0025569 IAO:0000115 The presence of aneurysmal polypoidal lesions in the choroidal vasculature. The aneurysmal dilatations, also known as polyps, may be found at subfoveal, juxtafoveal, extrafoveal, peripapillary or even peripheral regions. These polypoidal dilatations may be visible as reddish-orange subretinal nodules during ophthalmoscopic examination. The polypoidal lesions are best detected on indocyanine green angiography (ICGA) and might be associated with a branching vascular network (BVN) of neovascularization. Koroid vaskülatürün içinde anevrizmal polipoid lezyonların varlığı. Anevrizmal dilatasyonlar, polip olarak da bilinirler, subfoveal, jukstafoveal, ekstrafoveal, peripapiller veya hatta periferik bölgelerde görülebilir. Bu polipoidal dilatasyonlar, oftalmoskopik muayene sırasında kırmızımsı-turuncu subretinal nodüller şeklinde görülebilir. Polipoidal lezyonlar, en iyi indosiyanin yeşil anjiyografide (ICGA) tespit edilir ve dallanan neovaskülarizasyonun vasküler ağı (BVN) ile ilişkilendirilebilir CANDIDATE en tr HP:0025569 rdfs:label Polypoidal choroidal vasculopathy Polipoidal koroidal vaskülopati OFFICIAL en tr HP:0025570 IAO:0000115 Increased tendency of choiroidal blood vessels to allow fluids to leak characterized by multifocal choroidal hyperfluorescence on indocyanine green angiography (ICGA). İndosiyanin yeşili anjiyografisinde (ICGA) multifokal koroidal hiperfloresansi ile karakterize koroidal kan damarlarının sıvı kaçışına artmış izin verme eğilimi OFFICIAL en tr HP:0025570 rdfs:label Choroidal vascular hyperpermeability Koroidal vasküler aşırı geçirgenlik OFFICIAL -en tr HP:0025571 IAO:0000115 A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree. Işıklandırılmış yılbaşı ağacı gibi parıldayan birden fazla muhteşem renkler gösteren bir katarakt tipi OFFICIAL +en tr HP:0025571 IAO:0000115 A type of cataract that shows a spectacular display of multiple colors that glitters with the change of incident light like an illuminated Christmas tree. Işıklandırılmış yılbaşı ağacı gibi parıldayan birden fazla muhteşem renkler gösteren bir katarakt tipi CANDIDATE en tr HP:0025571 rdfs:label Christmas tree cataract Noel ağacı kataraktı OFFICIAL en tr HP:0025572 IAO:0000115 Punctal stenosis is a condition in which the external opening of the lacrimal canaliculus is narrowed or occluded. Punktal stenoz lakrimal kalikulusun dış açıklığının daraldığı veya tıkandığı bir durumdur OFFICIAL en tr HP:0025572 rdfs:label Punctal stenosis Punktal stenoz OFFICIAL @@ -18340,7 +18340,7 @@ en tr HP:0030270 rdfs:label Elevated red cell adenosine deaminase activity Artm en tr HP:0030271 IAO:0000115 This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes. 2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation. 2,3-difosfogliserat (2,3-DPG) oksijenin kırmızı kan hücrelerinden dokulara hareketini kontrol eder. Anemi genellikle doku oksijenasyonunu artırmak için artmış 2,3-DPG düzeyine eşlik eder. Bu terim, eritrositlerde uygun olmayan düşük bir 2,3-DPG konsantrasyonunu ifade eder CANDIDATE en tr HP:0030271 rdfs:label Reduced erythrocyte 2,3-diphosphoglycerate concentration Azalmış eritrosit 2,3-difosfogliserat konsantrasyonu OFFICIAL en tr HP:0030272 IAO:0000115 An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme. Eritrositler içinde katalist olarak davranan herhangi bir enzimin değiştirilmiş yeteneği. Bu terim bir enzimin değiştirilmiş seviyeleri nedeniyle olan değişiklikleri içerir CANDIDATE -en tr HP:0030272 rdfs:label Abnormal erythrocyte enzyme level Anormal eritrosit enzim aktivitesi CANDIDATE +en tr HP:0030272 rdfs:label Abnormal erythrocyte enzyme concentration or activity Anormal eritrosit enzim aktivitesi CANDIDATE en tr HP:0030273 IAO:0000115 Decrease in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine. Pürin metabolizmasında rol oynayan bir enzim olan adenozin deaminaz (ADA) aktivitesinde eritrositler içinde azalma. ADA, adenozin katabolizmasında yer alır CANDIDATE en tr HP:0030273 rdfs:label Reduced red cell adenosine deaminase level Azalmış kırmızı hücre adenozin deaminaz aktivitesi CANDIDATE en tr HP:0030274 IAO:0000115 Additional scrotum, or part of a scrotum in an abnormal location. Anormal bir yerde fazladan bir skrotum veya skrotum parçası OFFICIAL @@ -18383,7 +18383,7 @@ en tr HP:0030296 rdfs:label Metaphyseal chondromatosis of radius Radiusun metafi en tr HP:0030297 rdfs:label Metaphyseal chondromatosis of ulna Ulnanın metafizyal kondromatozu OFFICIAL en tr HP:0030298 rdfs:label Metaphyseal chondromatosis of humerus Humerusun metafizyal kondromatozu OFFICIAL en tr HP:0030299 IAO:0000115 An anomaly of the metaphysis of the distal femur (close to the knee). Distal femurun (dize yakın) metafizinin bir anomalisi OFFICIAL -en tr HP:0030299 rdfs:label Distal femoral metaphyseal abnormality Distal femoral metafizyal anormallik OFFICIAL +en tr HP:0030299 rdfs:label Abnormal distal femoral metaphysis morphology Distal femoral metafizyal anormallik CANDIDATE en tr HP:0030300 IAO:0000115 Presence of only 10 (instead of the usual 12) pairs of ribs. Sadece 10 çift kaburga (olağan 12 yerine) varlığı OFFICIAL en tr HP:0030300 rdfs:label 10 pairs of ribs 10 çift kaburga OFFICIAL en tr HP:0030301 IAO:0000115 An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts. İki serebral hemisferi orta hat boyunca bağlayan sinir lifi demeti olan anterior komissürün bir anomalisi. Anterior komissür ağrı algılanmasında rol oynar ve olfaktör yolaklardan çaprazlayan lifler içerir OFFICIAL @@ -18417,7 +18417,7 @@ en tr HP:0030318 IAO:0000115 A type of inflammation of the lips involving one or en tr HP:0030318 rdfs:label Angular cheilitis Açısal keilitis OFFICIAL en tr HP:0030319 IAO:0000115 Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve). Yüz siniriyle (yedinci kafatası siniri) sinir sistemine bağlanan bir veya birden fazla kasın gücünün düşmesi CANDIDATE en tr HP:0030319 rdfs:label Weakness of facial musculature Yüz kas sisteminin zayıflığı OFFICIAL -en tr HP:0030320 IAO:0000115 An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space. İntervertebral disk boşluğunda bir artış olarak gözlemlenen, bitişik vertebral cisimler arasında vertikal mesafede bir artış OFFICIAL +en tr HP:0030320 IAO:0000115 An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disk space. İntervertebral disk boşluğunda bir artış olarak gözlemlenen, bitişik vertebral cisimler arasında vertikal mesafede bir artış CANDIDATE en tr HP:0030320 rdfs:label Increased intervertebral space Artmış omurlar arası boşluk OFFICIAL en tr HP:0030321 IAO:0000115 An anomaly of the vertebral artery, the major artery of the neck that originates from the subclavian artery and merges to form the single midline basilar artery in a complex called the vertebrobasilar system. Subklaviyen arterden köken alan ve vertebrobaziler sistem olarak adlandırılan kompleks içinde tek orta hat baziler arteri oluşturmak için bir araya gelen, boynun ana arteri vertebral arterin bir anomalisi OFFICIAL en tr HP:0030321 rdfs:label Abnormal vertebral artery morphology Anormal vertebral arter morfolojisi OFFICIAL @@ -18477,8 +18477,8 @@ en tr HP:0030352 IAO:0000115 An anomalous level of insulin-like growth factor 1 en tr HP:0030352 rdfs:label Abnormal serum insulin-like growth factor 1 level Anormal serum insülin benzeri büyüme faktörü 1 seviyesi OFFICIAL en tr HP:0030353 IAO:0000115 A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation. Kan dolaşımındaki insülin benzeri faktör 1 (IGF1)'in azalmış seviyesi OFFICIAL en tr HP:0030353 rdfs:label Decreased serum insulin-like growth factor 1 Azalmış serum insülin benzeri büyüme faktörü 1 OFFICIAL -en tr HP:0030354 IAO:0000115 Abnormal levels of interferon in the blood. Kanda anormal interferon seviyeleri OFFICIAL -en tr HP:0030354 rdfs:label Abnormal circulating interferon concentration Anormal serum interferon seviyesi CANDIDATE +en tr HP:0030354 IAO:0000115 Abnormal levels of interferon in the blood Kanda anormal interferon seviyeleri OFFICIAL +en tr HP:0030354 rdfs:label obsolete Abnormal circulating interferon concentration Anormal serum interferon seviyesi CANDIDATE en tr HP:0030355 IAO:0000115 Abnormal levels of interferon gamma measured in the blood circulation. Kan dolaşımında ölçülen anormal interferon gama seviyeleri OFFICIAL en tr HP:0030355 rdfs:label Abnormal circulating interferon-gamma concentration Anormal serum interferon gama seviyesi CANDIDATE en tr HP:0030356 IAO:0000115 An elevation in the concentration of interferon gamma measured in the blood circulation. Kan dolaşımında ölçülen interferon gama konsantrasyonunda bir artış OFFICIAL @@ -18715,7 +18715,7 @@ en tr HP:0030495 IAO:0000115 Any structural anomaly of the blood vessels of the en tr HP:0030495 rdfs:label Abnormality morphology of the macular vasculature Maküler damar sisteminin anormalliği CANDIDATE en tr HP:0030496 IAO:0000115 Yellow-white intraretinal deposits in the macula typically associated with damaged outer blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature. Tipik olarak hasarlı dış kan-retina bariyeri ve retinal mikrodamarlarından seröz sıvı ve lipid eksüdasyonu ile lişkili makülada sarı-beyaz intraretinal birikimler OFFICIAL en tr HP:0030496 rdfs:label Macular exudate Maküler eksüdat OFFICIAL -en tr HP:0030497 IAO:0000115 Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. Retina sinir lif tabakasının yoğun olduğu bölgelerede beyaz şişmelerin meydana geldiği lokalize bölgeleri temsil eden, maküla dokusu üzerindeki yumuşak ve beyaz bir lekedir. Genellikle iç yapısı zikzaklar, tüylü bir kenara sahiptir, ters yöne doğru iyi çizilmiş bir formdadır ve yaklaşık 1 mm boyuta sahiptirler; vitreusa hafifçe yansıyıp bazen retinal damarları saptırırlar CANDIDATE +en tr HP:0030497 IAO:0000115 Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fiber layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. Retina sinir lif tabakasının yoğun olduğu bölgelerede beyaz şişmelerin meydana geldiği lokalize bölgeleri temsil eden, maküla dokusu üzerindeki yumuşak ve beyaz bir lekedir. Genellikle iç yapısı zikzaklar, tüylü bir kenara sahiptir, ters yöne doğru iyi çizilmiş bir formdadır ve yaklaşık 1 mm boyuta sahiptirler; vitreusa hafifçe yansıyıp bazen retinal damarları saptırırlar CANDIDATE en tr HP:0030497 rdfs:label Macular cotton wool spot Maküler pamuk noktası OFFICIAL en tr HP:0030498 IAO:0000115 Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging. Fundoskopide veya fundus görüntülemesinde maküler sahada retinal kalınlıkta anormal artış OFFICIAL en tr HP:0030498 rdfs:label Macular thickening Maküler kalınlaşma OFFICIAL @@ -18872,7 +18872,7 @@ en tr HP:0030634 rdfs:label Perifoveal ring of hyperautofluorescence surrounded en tr HP:0030635 rdfs:label Retinal dystrophy with early macular involvement Erken maküler tutulumlu retinal distrofi OFFICIAL en tr HP:0030636 IAO:0000115 Occult macular dystrophy is a, typically hereditary, abnormality of the macula associated with progressive foveal cone dysfunction and no apparent fundoscopic, full-field electroretinogram (ERG), or fluorescein angiogram abnormalities. Okült maküler distrofi, tipik olarak kalıtımsal, ilerleyici foveal koni disfonksiyonu ile ilişkili ve fundoskopik, tam saha elektroretinogramı (ERG) veya floresan anjiyogram anormallikleri olmayan bir maküla anormalliğidir CANDIDATE en tr HP:0030636 rdfs:label Occult macular dystrophy Gizli maküler distrofi OFFICIAL -en tr HP:0030637 IAO:0000115 Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia. Retinal fenotip koni fotoreseptör disfonksiyonu ve korunmuş çubuk sistemi ile karakterizedir. Anormallik tipik olarak geçicidir veya çok yavaş olarak ilerler ve bulgular azalmış merkezi görme, renk görme anormallikleri, nistagmus ve fotofobi içerebilir OFFICIAL +en tr HP:0030637 IAO:0000115 Retinal phenotype characterized by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, color vision abnormalities, nystagmus and photophobia. Retinal fenotip koni fotoreseptör disfonksiyonu ve korunmuş çubuk sistemi ile karakterizedir. Anormallik tipik olarak geçicidir veya çok yavaş olarak ilerler ve bulgular azalmış merkezi görme, renk görme anormallikleri, nistagmus ve fotofobi içerebilir CANDIDATE en tr HP:0030637 rdfs:label Congenital stationary cone dysfunction Koni disfonksiyon sendromu OFFICIAL en tr HP:0030638 rdfs:label Congenital stationary night blindness with normal fundus Normal funduslu konjenital yerleşik gece körlüğü OFFICIAL en tr HP:0030639 rdfs:label Congenital stationary night blindness with abnormal fundus Anormal funduslu konjenital yerleşik gece körlüğü OFFICIAL @@ -18911,7 +18911,7 @@ en tr HP:0030662 IAO:0000115 The presence of inflammatory cells such as lymphocy en tr HP:0030662 rdfs:label Vitreous inflammatory cells Vitröz inflamatuvar hücreler OFFICIAL en tr HP:0030663 IAO:0000115 Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernable gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity. En yakın retrolental boşluğu işgal eden ve merkezi vitröz boşlukta en azdan tanınabilir jele kadar olan boş vitröz kavitesi görünümü veren işlevini yitirmiş vitröz jel OFFICIAL en tr HP:0030663 rdfs:label Optically empty vitreous Optik olarak boş vitröz OFFICIAL -en tr HP:0030664 IAO:0000115 Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus. Rektus karın kasının alt kısmının zayıflığı klinik olarak aşağıdaki gibi tespit edilir. Hasta ayağa kalktığında veya dinlendiği pozisyondan kafasını kaldırdığında göbek deliği başa doğru yer değiştirir. Bu, rektus karın kasının alt kısmının felce uğramasının sonucudur, böylece göbek deliğini yukarı doğru çeken üst lifler baskın olur CANDIDATE +en tr HP:0030664 IAO:0000115 Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibers predominate pulling upwards the umbilicus. Rektus karın kasının alt kısmının zayıflığı klinik olarak aşağıdaki gibi tespit edilir. Hasta ayağa kalktığında veya dinlendiği pozisyondan kafasını kaldırdığında göbek deliği başa doğru yer değiştirir. Bu, rektus karın kasının alt kısmının felce uğramasının sonucudur, böylece göbek deliğini yukarı doğru çeken üst lifler baskın olur CANDIDATE en tr HP:0030664 rdfs:label Beevor's sign Beevor işareti OFFICIAL en tr HP:0030665 IAO:0000115 Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements. Rubral titreme, dinlenme sırasında yavaş bir kaba titreme ile karakterizedir ve bu da postürel ayarlamalar ve rehberli gönüllü hareketler tarafından daha da kötüleşir CANDIDATE en tr HP:0030665 rdfs:label Rubral tremor Rubral tremor OFFICIAL @@ -18941,7 +18941,7 @@ en tr HP:0030677 IAO:0000115 A congenital auricular deformity, which is mainly c en tr HP:0030677 rdfs:label Mozart ear Mozart kulağı OFFICIAL en tr HP:0030679 IAO:0000115 A hypopigmented spot in the shape of a leaf from the mountain ash tree. Dağ dişbudak ağacından bir yaprak şeklinde hipopigmente bir nokta OFFICIAL en tr HP:0030679 rdfs:label Ash-leaf spot Diş budak yaprağı leke OFFICIAL -en tr HP:0030680 IAO:0000115 Any structural anomaly of the heart and great vessels. Kalp ve büyük damarlarının herhangi bir yapısal anomalisi CANDIDATE +en tr HP:0030680 IAO:0000115 Any structural anomaly of the heart and blood vessels. Kalp ve büyük damarlarının herhangi bir yapısal anomalisi CANDIDATE en tr HP:0030680 rdfs:label Abnormal cardiovascular system morphology Kardiyovasküler sistem morfolojisi anormalliği CANDIDATE en tr HP:0030681 IAO:0000115 Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae). Kalbin sağ ve sol ventriküllerin (kardiyak trabekül, trabeküla karnea) iç yüzeyinden uzanan kas kolumlarının herhangi yapısal bir anomalisi OFFICIAL en tr HP:0030681 rdfs:label Abnormal morphology of myocardial trabeculae Miyokardiyal trabekülün anormal morfolojisi OFFICIAL @@ -18987,7 +18987,7 @@ en tr HP:0030713 IAO:0000115 Vein of Galen aneurysmal malformation is a choroida en tr HP:0030713 rdfs:label Vein of Galen aneurysmal malformation Galen veni anevrizmal malformasyonu OFFICIAL en tr HP:0030714 IAO:0000115 A large maternal clot that separates the chorionic plate from the villous chorion. Koryonik yeri villüs koryondan ayıran geniş maternal bir pıhtı OFFICIAL en tr HP:0030714 rdfs:label Subchorionic thrombohematoma Subkronik trombohematom OFFICIAL -en tr HP:0030715 IAO:0000115 A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis. Bir bronşun proksimal segmentinin fokal obliterasyonu ile karakterize bir gelişimsel anomali. Bronşiyal patern stenoz kısmının distalinde tamamen normaldir OFFICIAL +en tr HP:0030715 IAO:0000115 A developmental anomaly characterized by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis. Bir bronşun proksimal segmentinin fokal obliterasyonu ile karakterize bir gelişimsel anomali. Bronşiyal patern stenoz kısmının distalinde tamamen normaldir CANDIDATE en tr HP:0030715 rdfs:label Bronchial atresia Bronşiyal atrezi OFFICIAL en tr HP:0030716 IAO:0000115 Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly. Kraniyal kubbenin düz kemiklerinin kısmi ya da tam yokluğu. Durum sıklıkla, her zaman değil, anensefali ile ilişkilidir OFFICIAL en tr HP:0030716 rdfs:label Acrania Akrani OFFICIAL @@ -19115,8 +19115,8 @@ en tr HP:0030780 IAO:0000115 An anomaly of the protein C anticoagulant pathway, en tr HP:0030780 rdfs:label Abnormality of the protein C anticoagulant pathway Protein C antikoagülan yolağının anormalliği OFFICIAL en tr HP:0030781 IAO:0000115 A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues. Plazmada yağ dokusunda lipoliz sonucu olarak ve plazma triaçilgliserollerinin doku içine alındığı zaman meydana gelen normal seviyelerden daha yüksek bir yağ asidi seviyesi OFFICIAL en tr HP:0030781 rdfs:label Increased circulating free fatty acid level Dolaşımda artmış serbest yağ asidi seviyesi OFFICIAL -en tr HP:0030782 IAO:0000115 An abnormal amount of any of the interleukins, a class of cytokines, in the circulation. Bir sitokin sınıfı olan herhangi interlökinin dolaşımdaki anormal bir miktarı OFFICIAL -en tr HP:0030782 rdfs:label Abnormal circulating interleukin concentration Anormal serum interlökin seviyesi CANDIDATE +en tr HP:0030782 IAO:0000115 An abnormal amount of any of the interleukins, a class of cytokines, in the circulation Bir sitokin sınıfı olan herhangi interlökinin dolaşımdaki anormal bir miktarı OFFICIAL +en tr HP:0030782 rdfs:label obsolete Abnormal circulating interleukin concentration Anormal serum interlökin seviyesi CANDIDATE en tr HP:0030783 IAO:0000115 The concentration of interleukin-6 in the blood circulation is above the upper limit of normal. Dolaşımda artmış interlökin 6 konsantrasyonu CANDIDATE en tr HP:0030783 rdfs:label Increased circulating interleukin 6 concentration Artmış serum interlökin-6 CANDIDATE en tr HP:0030784 IAO:0000115 An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name. Doğru olarak algılanan kişileri ve nesneleri isimlendirme yetersizliği. Birey söz konusu nesneyi takip edebilir ancak ismi geri söyleyemez OFFICIAL @@ -19698,8 +19698,8 @@ en tr HP:0031098 IAO:0000115 Reduced amount of the thyroid-stimulating hormone ( en tr HP:0031098 rdfs:label Decreased thyroid-stimulating hormone level Azalmış tiroid stimüle edici hormon seviyesi OFFICIAL en tr HP:0031099 IAO:0000115 Any deviation from the normal concentration of inhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone. Dişilerde overlerin granüloza hücreleri ve erkeklerde testisin Sertoli hücreleri tarafından salgılanan heterodimerik protein hormon olan inhibinin normal konsantrasyonundan herhangi bir sapma. İnhibinler pitüiter folikül stimüle edici hormon salgılanmasını baskılar CANDIDATE en tr HP:0031099 rdfs:label Abnormal circulating inhibin level Dolaşımda anormal inhibin seviyesi OFFICIAL -en tr HP:0031100 IAO:0000115 A reduced concentration of inhibin B in the blood. Kanda azalmış inhibin B konsantrasyonu OFFICIAL -en tr HP:0031100 rdfs:label Decreased inhibin B level Azalmış inhibin B seviyesi OFFICIAL +en tr HP:0031100 IAO:0000115 The concentration of inhibin B in the blood circulation is below the lower limit of normal. Kanda azalmış inhibin B konsantrasyonu CANDIDATE +en tr HP:0031100 rdfs:label Decreased circulating inhibin B concentration Azalmış inhibin B seviyesi CANDIDATE en tr HP:0031101 IAO:0000115 Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases. Folliküllerin granüloza hücreleri tarafından üretilen bir peptid olan, antimüller hormonun normal aralığındaki herhangi bir deviasyon. Müllerian inhibe edici madde olarak da bilinen anti-Müller hormon (AMH) yumurtalıktaki küçük antral foliküllerin granüloza hücreleri tarafından üretilir. AMH, folliküler areste katkıda bulunan, yumurtalıkta inhibe edici bir role sahiptir. Kadınlarda AMH düzeyleri 8 yaşına kadar düşüktür, ergenliğe kadar hızla yükselir ve 25 yaşından menopoz dönemine kadar, AMH üretimi durduğunda istikrarlı bir şekilde azalır CANDIDATE en tr HP:0031101 rdfs:label Abnormal circulating antimullerian hormone concentration Anormal antimülleriyen hormon düzeyi CANDIDATE en tr HP:0031102 IAO:0000115 An elevation above the normal range of the antimullerian hormone in the circulation. Dolaşımda antimülleriyen hormonun normal aralığı üzerinde bir yükselme OFFICIAL @@ -19765,7 +19765,7 @@ en tr HP:0031136 rdfs:label Decreased acrosin in sperm head Sperm başında azal en tr HP:0031137 IAO:0000115 Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material. Biriken materyal tarafından sitoplazmanın genişlemesi sonucu şişmiş bir görünüm sergileyen hepatositler (karaciğer parankimal hücreleri) OFFICIAL en tr HP:0031137 rdfs:label Storage in hepatocytes Hepatositlerde depolanma OFFICIAL en tr HP:0031138 IAO:0000115 A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP). Normal dolaşan B tipi natriüretik peptid (BNP) konsantrasyonundan sapma OFFICIAL -en tr HP:0031138 rdfs:label Abnormal B-type natriuretic peptide concentration Anormal B tipi natriüretik peptit seviyesi CANDIDATE +en tr HP:0031138 rdfs:label Abnormal circulating B-type natriuretic peptide concentration Anormal B tipi natriüretik peptit seviyesi CANDIDATE en tr HP:0031139 IAO:0000115 A type of rest posture in an infant that indicated a generalized reduction in muscle tone. The hips are flexed and the legs are abducted to an extent that causes the lateral thigh to rest upon the supporting surface. This posture is said to resemble the legs of a frog. Bir bebekte kas tonusunda genel bir azalma olduğunu gösteren durgun duruş tipi. Kalça esnetilir ve bacaklar yanal uyluğun destek yüzeyinin üzerine oturmasına neden olacak kadar dışarı doğru çekilir. Bu duruşun bir kurbağanın bacaklarına benzediği söylenir CANDIDATE en tr HP:0031139 rdfs:label Frog-leg posture Kurbağa bacağı duruşu OFFICIAL en tr HP:0031140 IAO:0000115 An abnormal appearance of the liver or any of its components on sonography (ultrasound). Sonografide (ultrason) karaciğerin veya herhangi bir bileşeninin anormal bir görünümü OFFICIAL @@ -19880,7 +19880,7 @@ en tr HP:0031201 IAO:0000115 A type of acelluar casts that have a surface compos en tr HP:0031201 rdfs:label Granular casts Granüler kümeler OFFICIAL en tr HP:0031202 IAO:0000115 A type of acellular urinary casts that display a melted wax (waxy) appearance, which gives them a high refractive index. They are frequently dark, with blunt extremities, indented and cracked edges and a large size, which is often several times that of other types of casts. Eritilmiş balmumu (mumlu) görünümü göstermek için aselüler üriner kalıbın bir türü, bu da onlara yüksek refraktif indeks verir. Sıklıkla karanlıktırlar, kör uzantılar ile, dişli ve kırık kenarlar ve büyük bir boyutları vardır, bu da genellikle diğer türdeki yayın türlerinin birkaç katıdır CANDIDATE en tr HP:0031202 rdfs:label Waxy casts Mumsu kümeler OFFICIAL -en tr HP:0031203 IAO:0000115 A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses. Lipid damlacıkları içeren bir hücresiz ürinerin türü, oval yağlı vücutlar veya kolesterol kristalleri, ve sıklıkla bu öğelerin serbest biçimleri ile ilişkilidir. Onların kimliğini saptama polarize ışık mikroskopisinin kullanılmasını gerektirebilir, Malta haçı olarak döküm kalıba benzeyenin içine ki yağlı parçacıkları gömülenlerin altına CANDIDATE +en tr HP:0031203 IAO:0000115 A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarized light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses. Lipid damlacıkları içeren bir hücresiz ürinerin türü, oval yağlı vücutlar veya kolesterol kristalleri, ve sıklıkla bu öğelerin serbest biçimleri ile ilişkilidir. Onların kimliğini saptama polarize ışık mikroskopisinin kullanılmasını gerektirebilir, Malta haçı olarak döküm kalıba benzeyenin içine ki yağlı parçacıkları gömülenlerin altına CANDIDATE en tr HP:0031203 rdfs:label Fatty casts Yağlı kümeler OFFICIAL en tr HP:0031204 IAO:0000115 A type of urinary cast that contain bacteria. Bacterial casts can be difficult to identify and can be distinguished from other types of casts using phase contrast microscopy. Bacterial casts are diagnostic of acute pyelonephritis or intrinsic renal infection. Bakteri içeren bir idrar küme tipi. Bakteriyel kümelerin tanımlanması zor olabilir ve diğer kümelerden faz kontrast mikroskobisi kullanılarak ayrılabilir. Bakteriyel kümeler akut pyelonefrit veya intrinsik renal enfeksiyon için tanı koydurucudur OFFICIAL en tr HP:0031204 rdfs:label Bacterial cell casts Bakteriyel hücre kümeleri OFFICIAL @@ -20655,7 +20655,7 @@ en tr HP:0031604 IAO:0000115 A developmental defect characterized by the lack of en tr HP:0031604 rdfs:label Agenesis of the carotid canal Karotid kanal agenezisi OFFICIAL en tr HP:0031605 IAO:0000115 Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve. Fundusun pigmentasyonunun herhangi bir anomalisi, gözün retine ve optik siniri içeren posterior kısmı CANDIDATE en tr HP:0031605 rdfs:label Abnormality of fundus pigmentation Fundus pigmentasyon anormalliği OFFICIAL -en tr HP:0031606 IAO:0000115 Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. Retinadaki yumuşak beyaz yama, retinal sinir lifi tabakasının yoğun beyaz şişmelerinin lokalize bölgelerini temsil eder. Çoğunlukla zikzak dahili yapıya sahiptirler, tüylü bir kenar ancak bunun dışında iyi betimlenmiş bir biçim ve yaklaşık olarak 1 mm boyut; vitreusa içine hafifçe yansırlar ve bazen retinal damarları saptırırlar CANDIDATE +en tr HP:0031606 IAO:0000115 Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fiber layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. Retinadaki yumuşak beyaz yama, retinal sinir lifi tabakasının yoğun beyaz şişmelerinin lokalize bölgelerini temsil eder. Çoğunlukla zikzak dahili yapıya sahiptirler, tüylü bir kenar ancak bunun dışında iyi betimlenmiş bir biçim ve yaklaşık olarak 1 mm boyut; vitreusa içine hafifçe yansırlar ve bazen retinal damarları saptırırlar CANDIDATE en tr HP:0031606 rdfs:label Retinal cotton wool spot Retinal pamuk noktası OFFICIAL en tr HP:0031607 IAO:0000115 Weakness in the supporting structures of the pelvic floor allowing the pelvic viscera to descend or one or more of the pelvic organs drop from their normal position. Pelvik organların aşağı inmesine veya bir veya daha fazla pelvik organın normal pozisyonundan düşmesine izin veren pelvik zemini destekleyen yapılarda zayıflık OFFICIAL en tr HP:0031607 rdfs:label Pelvic organ prolapse Pelvik organ prolapsusu OFFICIAL @@ -20772,7 +20772,7 @@ en tr HP:0031669 IAO:0000115 A murmur that occurs in the middle of the diastolic en tr HP:0031669 rdfs:label Middiastolic murmur Middiastolik üfürüm OFFICIAL en tr HP:0031670 IAO:0000115 A murmur that occurs in both systole and diastole. Hem sistol hem diastolde meydana gelen bir üfürüm OFFICIAL en tr HP:0031670 rdfs:label Continuous heart murmur Kesintisiz kalp üfürümü OFFICIAL -en tr HP:0031671 IAO:0000115 Typical atrial flutter is an organised atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative. Tipik bir atriyal çarpıntı organize bir atriyal taşikardidir. Ayrıca, sağ atriyumla sınırlanmış makro-aday taşikardi olarak da tanımlanabilir. Bu aritmi, hastanın önceki tedavisine veya ablasyonuna, konjenital kalp hastalığına vb. bağlı olarak dalgalanma gösterebilir; ancak, 200-260 ms dönem uzunluğuna sahiptir. Ventriküler hız cevabı atriyal çarpıntı sırasında genellikle 2:1 veya 3:1 olan atriyoventriküler düğüm iletkenleri ile sınırlandırılacaktır. Tipik (saat yönünün tersine) çarpıntı, ortak çarpıntı modeliyle ilişkilidir: İnferior lead II, III ve aVF'de dominant negatif sapmalar gösteren düzenli sürekli bir dalgalanma, çoğunlukla bir testere dişi modeli olarak tanımlanır ve düz atriyal sapmalar I ve aVL'ye sebep olur. V1'deki atriyal defleksiyonlar pozitif, bifazik veya negatif olabilir CANDIDATE +en tr HP:0031671 IAO:0000115 Typical atrial flutter is an organized atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative. Tipik bir atriyal çarpıntı organize bir atriyal taşikardidir. Ayrıca, sağ atriyumla sınırlanmış makro-aday taşikardi olarak da tanımlanabilir. Bu aritmi, hastanın önceki tedavisine veya ablasyonuna, konjenital kalp hastalığına vb. bağlı olarak dalgalanma gösterebilir; ancak, 200-260 ms dönem uzunluğuna sahiptir. Ventriküler hız cevabı atriyal çarpıntı sırasında genellikle 2:1 veya 3:1 olan atriyoventriküler düğüm iletkenleri ile sınırlandırılacaktır. Tipik (saat yönünün tersine) çarpıntı, ortak çarpıntı modeliyle ilişkilidir: İnferior lead II, III ve aVF'de dominant negatif sapmalar gösteren düzenli sürekli bir dalgalanma, çoğunlukla bir testere dişi modeli olarak tanımlanır ve düz atriyal sapmalar I ve aVL'ye sebep olur. V1'deki atriyal defleksiyonlar pozitif, bifazik veya negatif olabilir CANDIDATE en tr HP:0031671 rdfs:label Typical atrial flutter Tipik atriyal fluter OFFICIAL en tr HP:0031672 IAO:0000115 A type of atrial flutter associated with rounded or bimodal positive deflections in inferior leads II, III and aVF, and a very characteristic bimodal negative wave in the shape of a W is seen in lead V1. Alt kablolar II, III ve aVF'de yuvarlak veya bimodal pozitif sapmalar ve V1 kablosunda görülen W şeklinde çok karakteristik bir bimodal negatif dalga ile ilişkili bir atriyal fluter tipi OFFICIAL en tr HP:0031672 rdfs:label Reverse typical atrial flutter Ters tipik atriyal fluter OFFICIAL @@ -21028,7 +21028,7 @@ en tr HP:0031801 rdfs:label Vocal cord dysfunction Vokal kord disfonksiyonu OFFI en tr HP:0031803 IAO:0000115 Bleeding within the fundus of the eye. Gözün fundusu içinde kanama OFFICIAL en tr HP:0031803 rdfs:label Fundus hemorrhage Fundus kanaması OFFICIAL en tr HP:0031804 rdfs:label Premacular hemorrhage Premaküler kanama OFFICIAL -en tr HP:0031805 IAO:0000115 A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal haemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina. Nöroduyusal retina içinde meydana gelen bir fundus hemorajisi alt tipi. İntraretinal hemorajiler retina içindeki derinliklerine bağlı olarak 'nokta' veya 'leke' şekilli veya alev şekilli olabilir OFFICIAL +en tr HP:0031805 IAO:0000115 A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal hemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina. Nöroduyusal retina içinde meydana gelen bir fundus hemorajisi alt tipi. İntraretinal hemorajiler retina içindeki derinliklerine bağlı olarak 'nokta' veya 'leke' şekilli veya alev şekilli olabilir CANDIDATE en tr HP:0031805 rdfs:label Intraretinal hemorrhage İntraretinal kanama OFFICIAL en tr HP:0031806 IAO:0000115 Any deviation from the normal number of basophils per volume in the blood circulation. Kan dolaşımında hacim başına normal bazofil sayısından herhangi bir sapma OFFICIAL en tr HP:0031806 rdfs:label Abnormal basophil count Anormal bazofil sayımı OFFICIAL @@ -21255,7 +21255,7 @@ en tr HP:0031929 IAO:0000115 A type of rosette in which a spoke-wheel arrangemen en tr HP:0031929 rdfs:label Perivascular pseudorosette Perivasküler psödorozet OFFICIAL en tr HP:0031930 IAO:0000115 A type of rosette that is similar to the Homer Wright rosette, but the central fiber-rich neuropil island is larger and more irregular. Homer Wright rozetine benzer fakat fiberden zengin nörofil adasının daha geniş ve daha düzensiz olduğu bir rozet tipi OFFICIAL en tr HP:0031930 rdfs:label Neurocytic rosette Nörositik rozet OFFICIAL -en tr HP:0031931 IAO:0000115 Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behaviour and its occurrence may be favoured by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation. Oküler fluter tekrarlayan, düzensiz, salınımlar arası aralık olmadan olan yatay salınımların istemsiz patlamalarından oluşan anormal bir göz hareketidir. Genellikle normal okülomotor davranış üzerine binen ve meydana gelişi göz kırpması, normal salınımların tetiklenmesi veya optokinetik uyarı gibi çeşitli olaylar tarafından mümkün olabilir OFFICIAL +en tr HP:0031931 IAO:0000115 Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behavior and its occurrence may be favored by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation. Oküler fluter tekrarlayan, düzensiz, salınımlar arası aralık olmadan olan yatay salınımların istemsiz patlamalarından oluşan anormal bir göz hareketidir. Genellikle normal okülomotor davranış üzerine binen ve meydana gelişi göz kırpması, normal salınımların tetiklenmesi veya optokinetik uyarı gibi çeşitli olaylar tarafından mümkün olabilir CANDIDATE en tr HP:0031931 rdfs:label Ocular flutter Oküler fluter OFFICIAL en tr HP:0031932 IAO:0000115 Aorto-left ventricular tunnel (ALVT) is a congenital extracardiac channel connecting the ascending aorta above the sino-tubular junction to either left or right ventricular cavity. Aorto-sol ventriküler tünel (ALVT) çıkan aortayı sinotübüler bileşke üzerinde herhangi bir sol ventriküler boşluğa bağlayan ekstrakardiyak bir kanaldır CANDIDATE en tr HP:0031932 rdfs:label Aorto-left ventricular tunnel Aorto-sol ventriküler tünel OFFICIAL @@ -21332,17 +21332,17 @@ en tr HP:0031971 IAO:0000115 A localized hypertrophy of the subaortic segment of en tr HP:0031971 rdfs:label Subaortic ventricular septal bulge Subaortik ventriküler septal çıkıntı OFFICIAL en tr HP:0031972 IAO:0000115 Presyncope is a state of lightheadedness, muscular weakness, blurred vision, and feeling faint. Presyncope is most often cardiovascular in cause. Presenkop sersemlik, kas güçsüzlüğü, bulanık görüş ve baygınlık hissi durumudur. Presenkop en sık kardiyovasküler nedenlidir OFFICIAL en tr HP:0031972 rdfs:label Presyncope Presenkop OFFICIAL -en tr HP:0031973 IAO:0000115 An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc. Optik sinir baş çukurunun yüksekliğinin disk yüksekliğine oranında anormal bir artış OFFICIAL +en tr HP:0031973 IAO:0000115 An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disk. Optik sinir baş çukurunun yüksekliğinin disk yüksekliğine oranında anormal bir artış CANDIDATE en tr HP:0031973 rdfs:label Increased vertical cup-to-disc ratio Artmış dikey çukurluk disk oranı OFFICIAL -en tr HP:0031974 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.6 (The normal cup-to-disc ratio is 0.3). Optik sinir baş çukur yüksekliğinin disk yüksekliğine oranı 0.6'dır (normal çukur disk oranı 0.3'tür) CANDIDATE +en tr HP:0031974 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.6 (The normal cup-to-disc ratio is 0.3). Optik sinir baş çukur yüksekliğinin disk yüksekliğine oranı 0.6'dır (normal çukur disk oranı 0.3'tür) CANDIDATE en tr HP:0031974 rdfs:label Increased vertical cup-to-disc ratio - 0.6 Artmış dikey çukurluk disk oranı - 0.6 OFFICIAL -en tr HP:0031975 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.7 (The normal cup-to-disc ratio is 0.3). Optik sinir baş çukur yüksekliğinin disk yüksekliğine oranı 0.7'dir (normal çukur disk oranı 0.3'tür) OFFICIAL +en tr HP:0031975 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.7 (The normal cup-to-disc ratio is 0.3). Optik sinir baş çukur yüksekliğinin disk yüksekliğine oranı 0.7'dir (normal çukur disk oranı 0.3'tür) CANDIDATE en tr HP:0031975 rdfs:label Increased vertical cup-to-disc ratio - 0.7 Artmış dikey çukurluk disk oranı - 0.7 OFFICIAL -en tr HP:0031976 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3). Optik sinir baş çukur yüksekliğinin disk yüksekliğine oranı 0.8'dir (normal çukur disk oranı 0.3'tür) OFFICIAL +en tr HP:0031976 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.8 (The normal cup-to-disc ratio is 0.3). Optik sinir baş çukur yüksekliğinin disk yüksekliğine oranı 0.8'dir (normal çukur disk oranı 0.3'tür) CANDIDATE en tr HP:0031976 rdfs:label Increased vertical cup-to-disc ratio - 0.8 Artmış dikey çukurluk disk oranı - 0.8 OFFICIAL -en tr HP:0031977 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.9 (The normal cup-to-disc ratio is 0.3). Optik sinir baş çukur yüksekliğinin disk yüksekliğine oranı 0.9'dir (normal çukur disk oranı 0.3'tür) OFFICIAL +en tr HP:0031977 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.9 (The normal cup-to-disc ratio is 0.3). Optik sinir baş çukur yüksekliğinin disk yüksekliğine oranı 0.9'dir (normal çukur disk oranı 0.3'tür) CANDIDATE en tr HP:0031977 rdfs:label Increased vertical cup-to-disc ratio - 0.9 Artmış dikey çukurluk disk oranı - 0.9 OFFICIAL -en tr HP:0031978 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 1.0 (The normal cup-to-disc ratio is 0.3). Optik sinir baş çukur yüksekliğinin disk yüksekliğine oranı 1.0'dir (normal çukur disk oranı 0.3'tür) OFFICIAL +en tr HP:0031978 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disk is 1.0 (The normal cup-to-disc ratio is 0.3). Optik sinir baş çukur yüksekliğinin disk yüksekliğine oranı 1.0'dir (normal çukur disk oranı 0.3'tür) CANDIDATE en tr HP:0031978 rdfs:label Increased vertical cup-to-disc ratio - 1.0 Artmış dikey çukurluk disk oranı - 1.0 OFFICIAL en tr HP:0031979 IAO:0000115 Any deviation from the normal concentration of a carbohydrate in the urine. İdrarda normal karbonhidrat konsantrasyonundan herhangi bir sapma OFFICIAL en tr HP:0031979 rdfs:label Abnormal urine carbohydrate level Anormal idrar karbonhidrat seviyesi OFFICIAL @@ -21434,23 +21434,23 @@ en tr HP:0032023 IAO:0000115 Cellular infiltrate confirmed by a cellular infiltr en tr HP:0032023 rdfs:label Eosinophilic gallbladder infiltration Eozinofilik safra kesesi infiltrasyonu OFFICIAL en tr HP:0032024 IAO:0000115 An erosion of the mucous membrane in a portion of the ileum. İleumun bir kısmının mukoza membranının erozyonu CANDIDATE en tr HP:0032024 rdfs:label Ileal ulcer İleal ülser OFFICIAL -en tr HP:0032025 IAO:0000115 A reduced concentration or activity of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs. Ana olarak hepatositler tarafından sentezlenen ve kan akımının içine salgılanan 52-kDa bir glikoprotein olan alfa-1 antitripsininin azalmış dolaşım konsantrasyonu. Alfa-1 antitripsin akciğerlerde proteaz-antiproteaz homeostazini sürdürmede kritik olan bir serin-proteinaz inhibitörüdür CANDIDATE +en tr HP:0032025 IAO:0000115 A reduced concentration or activity of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesized and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs. Ana olarak hepatositler tarafından sentezlenen ve kan akımının içine salgılanan 52-kDa bir glikoprotein olan alfa-1 antitripsininin azalmış dolaşım konsantrasyonu. Alfa-1 antitripsin akciğerlerde proteaz-antiproteaz homeostazini sürdürmede kritik olan bir serin-proteinaz inhibitörüdür CANDIDATE en tr HP:0032025 rdfs:label Reduced circulating alpha-1-antitrypsin concentration Azalmış serum alfa-1-antitripsini CANDIDATE en tr HP:0032026 IAO:0000115 Circumscribed area of flaccid skin due to the loss of elastic tissue in the dermis. Dermiste elastik doku kaybına bağlı sınırlanmış gevşek deri alanı OFFICIAL en tr HP:0032026 rdfs:label Anetoderma Anetoderma OFFICIAL -en tr HP:0032027 IAO:0000115 Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size. Retinada iyi tanımlı/ayırt edilebilen, bireysel ve çoğunlukla tek tip boyutta olan sarı, beyaz veya grimsi lezyonlar OFFICIAL +en tr HP:0032027 IAO:0000115 Yellow, white or grayish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size. Retinada iyi tanımlı/ayırt edilebilen, bireysel ve çoğunlukla tek tip boyutta olan sarı, beyaz veya grimsi lezyonlar CANDIDATE en tr HP:0032027 rdfs:label Retinal dots Retinal noktalar OFFICIAL -en tr HP:0032028 IAO:0000115 Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size. Makülada iyi tanımlı/ayırt edilebilen, bireysel ve çoğunlukla tek tip boyutta olan sarı, beyaz veya grimsi lezyonlar OFFICIAL +en tr HP:0032028 IAO:0000115 Yellow, white or grayish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size. Makülada iyi tanımlı/ayırt edilebilen, bireysel ve çoğunlukla tek tip boyutta olan sarı, beyaz veya grimsi lezyonlar CANDIDATE en tr HP:0032028 rdfs:label Macular dots Maküler noktalar OFFICIAL en tr HP:0032029 IAO:0000115 Excessive eyelid tissue laxity, typically affecting both upper eyelids and associated with spontanteous tarsal eversion during sleep. It is more common in the obese, it may be associated with obstructive sleep apnea and it may result in corneal exposure or chronic papillary conjunctivitis. Tipik olarak her iki üst göz kapaklarını etkileyen ve uyku esnasında spontan tarsal eversiyon ile ilişkili aşırı göz kapağı dokusu. Obezlerde daha sıktır, obstrüktif uyku apne ile ilişkili olabilir ve korneal maruziyet veya kronik papiller konjonktivit ile sonuçlanabilir OFFICIAL en tr HP:0032029 rdfs:label Floppy eyelid Gevşek göz kapağı OFFICIAL -en tr HP:0032030 IAO:0000115 Laxity of the tendon stabilising the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed. Tarsal plağın lateral tarafını zigomatik kemiğe stabilize eden tendonun gevşekliği. Bu lateral kantusun yuvarlak görünümü ile sonuçlanabilir. Ayrıca, göz kapağı mediyal olarak çekildiğinde kantal açının 2 mm'den fazla hareketi gözlemlenebilir OFFICIAL +en tr HP:0032030 IAO:0000115 Laxity of the tendon stabilizing the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed. Tarsal plağın lateral tarafını zigomatik kemiğe stabilize eden tendonun gevşekliği. Bu lateral kantusun yuvarlak görünümü ile sonuçlanabilir. Ayrıca, göz kapağı mediyal olarak çekildiğinde kantal açının 2 mm'den fazla hareketi gözlemlenebilir CANDIDATE en tr HP:0032030 rdfs:label Lateral canthal tendon laxity Lateral kantal tendon gevşekliği OFFICIAL -en tr HP:0032031 IAO:0000115 Laxity of the tendon stabilising the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally. Tarsal plağın mediyal tarafını anterior ve posterior lakrimal kabartılara stabilize eden tendon gevşekliği. Bu, göz kapağı lateral olarak çekildiğinde punktumun 2 mm'den fazla hareketine yol açabilir OFFICIAL +en tr HP:0032031 IAO:0000115 Laxity of the tendon stabilizing the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally. Tarsal plağın mediyal tarafını anterior ve posterior lakrimal kabartılara stabilize eden tendon gevşekliği. Bu, göz kapağı lateral olarak çekildiğinde punktumun 2 mm'den fazla hareketine yol açabilir CANDIDATE en tr HP:0032031 rdfs:label Medial canthal tendon laxity Mediyal kantal tendon gevşekliği OFFICIAL en tr HP:0032032 IAO:0000115 Abnormally lax eyelid associated with tissue relaxation, predominantly in the horizontal plane. It can be demonstrated by the horizontal eyelid distraction test (e.g. by pulling the eyelid medially and laterally). Medial and/or lateral canthal tendon laxity are often present. Esas olarak yatay düzlemde doku gevşemesi ile ilişkili anormal olarak gevşek göz kapağı. Yatay göz kapağı distraksiyon testi ile ispat edilebilir (örneğin göz kapağını mediyal ve lateral olarak çekerek). Mediyal ve/veya lateral kantal tendon gevşekliği sıklıkla mevcuttur CANDIDATE en tr HP:0032032 rdfs:label Horizontal eyelid laxity Yatay göz kapağı gevşekliği OFFICIAL -en tr HP:0032033 IAO:0000115 Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilising structures (e.g. lower lid retractors) or tarsal atrophy are often present. Esas olarak dikey düzlemde doku gevşemesi ile ilişkili anormal olarak gevşek göz kapağı. Dikey göz kapağı çekmesi ile ispat edilebilir. Dikey stabilize edici yapılar (örneğin alt göz kapağı retraktörleri) veya tarsal atrofi sıklıkla mevcuttur OFFICIAL +en tr HP:0032033 IAO:0000115 Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilizing structures (e.g. lower lid retractors) or tarsal atrophy are often present. Esas olarak dikey düzlemde doku gevşemesi ile ilişkili anormal olarak gevşek göz kapağı. Dikey göz kapağı çekmesi ile ispat edilebilir. Dikey stabilize edici yapılar (örneğin alt göz kapağı retraktörleri) veya tarsal atrofi sıklıkla mevcuttur CANDIDATE en tr HP:0032033 rdfs:label Vertical eyelid laxity Dikey göz kapağı gevşekliği OFFICIAL en tr HP:0032034 IAO:0000115 Abnormally lax upper eyelid associated with tissue relaxation. Doku gevşemesi ile ilişkili anormal olarak gevşek üst göz kapağı OFFICIAL en tr HP:0032034 rdfs:label Upper eyelid laxity Üst göz kapağı gevşekliği OFFICIAL @@ -21490,7 +21490,7 @@ en tr HP:0032053 IAO:0000115 A subtype of focal cortical dysplasia type II that en tr HP:0032053 rdfs:label Focal cortical dysplasia type IIb Fokal kortikal displazi tip IIb OFFICIAL en tr HP:0032054 IAO:0000115 A type of focal cortical dysplasia that is characterized by cortical lamination abnormalities associated with a principal lesion, usually adjacent to or affecting the same cortical area/lobe. Genellikle bitişik veya aynı kortikal sahayı/lobu etkileyen ana bir lezyon ile ilişkili kortikal laminasyon anormallikleri ile karakterize bir fokal kortikal displazi tipi OFFICIAL en tr HP:0032054 rdfs:label Focal cortical dysplasia type III Fokal kortikal displazi tip III OFFICIAL -en tr HP:0032055 IAO:0000115 A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organisation (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis). Hipokampal sklerozisli hastalarda (HS, sinonim Ammon'un boynuz sklerozu) mimari organizasyonda (kortikal dislaminasyon) veya hücresel mimari bileşimde (Katman 5'in dışında hipertrofik nöronlar) değişimler ile karakterize bir fokal kortikal displazi tip III alt tipi CANDIDATE +en tr HP:0032055 IAO:0000115 A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organization (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis). Hipokampal sklerozisli hastalarda (HS, sinonim Ammon'un boynuz sklerozu) mimari organizasyonda (kortikal dislaminasyon) veya hücresel mimari bileşimde (Katman 5'in dışında hipertrofik nöronlar) değişimler ile karakterize bir fokal kortikal displazi tip III alt tipi CANDIDATE en tr HP:0032055 rdfs:label Focal cortical dysplasia type IIIa Fokal kortikal displazi tip IIIa OFFICIAL en tr HP:0032056 IAO:0000115 A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) and/or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to glial or glioneuronal tumor. Gliyal veya gliyonöral tümöre bitişik meydana gelen, neokorteksin değişmiş mimarisi (kortikal dislaminasyon, altı katlmanlı yapısız hipoplazi) ve/veya hücresel mimari bileşimi (hipertrofik nöronlar) ile karakterize bir fokal kortikal displazi tip II alt tipi OFFICIAL en tr HP:0032056 rdfs:label Focal cortical dysplasia type IIIb Fokal kortikal displazi tip IIIb OFFICIAL @@ -21702,7 +21702,7 @@ en tr HP:0032168 IAO:0000115 An infection of the colon (colitis) by clostridium en tr HP:0032168 rdfs:label Clostridium difficile colitis Clostridium difficile koliti OFFICIAL en tr HP:0032169 IAO:0000115 A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection. Olağan dışı ciddiyet veya enfeksiyon yoğunluğu nedenli enfeksiyona patolojik yatkınlık belirtisi olarak değerlendirilen bir enfeksiyon tipi OFFICIAL en tr HP:0032169 rdfs:label Severe infection Ciddi enfeksiyon OFFICIAL -en tr HP:0032170 IAO:0000115 An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterised by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella. Varisella zoster virüsü (VZV) enfeksiyonunun olağan dışı ciddi bir formu. Çoğu vakada, özellikle çocuklarda varisella deri lezyonları, düşük dereceli ateş ve halsizlik ile karakterize çok hafif bir enfeksiyondur. Ciddi enfeksiyon VZV pnömonisi, hepatit, menenjit ve yaygın varisella dahil bulgular ile karakterizedir OFFICIAL +en tr HP:0032170 IAO:0000115 An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterized by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella. Varisella zoster virüsü (VZV) enfeksiyonunun olağan dışı ciddi bir formu. Çoğu vakada, özellikle çocuklarda varisella deri lezyonları, düşük dereceli ateş ve halsizlik ile karakterize çok hafif bir enfeksiyondur. Ciddi enfeksiyon VZV pnömonisi, hepatit, menenjit ve yaygın varisella dahil bulgular ile karakterizedir CANDIDATE en tr HP:0032170 rdfs:label Severe varicella zoster infection Ciddi varisella zoster enfeksiyonu OFFICIAL en tr HP:0032171 IAO:0000115 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the urinary bladder. Bladder pain may be more pronounced with a full bladder and relieved upon urination, but this is not always the case. Mesaneye lokalize fiziksel rahatsızlık (iğneleme, zonklama veya ağrıma) ile karakterize bir hoşnutsuzluk hissi. Mesane ağrısı tam dolu bir mesane ile daha belirgin olabilir ve idrar yapma sonrası rahatlayabilir, fakat bu her zaman geçerli değildir OFFICIAL en tr HP:0032171 rdfs:label Bladder pain Mesane ağrısı OFFICIAL @@ -21764,7 +21764,7 @@ en tr HP:0032200 IAO:0000115 The presence of thick collagen bundles around blood en tr HP:0032200 rdfs:label Perivascular fibrosis Perivasküler fibroz OFFICIAL en tr HP:0032201 IAO:0000115 The term rotator cuff describes the tendons connecting the infraspinatus, supraspinatus, teres minor, and subscapularis muscles to the humeral head.Traumatic tears of the rotator cuff tend to occur at the tendon-bone junction of the supraspinatus and greater tuberosity of the humerus whereas degenerative tears tend to be seen posteriorly at the junction of the supraspinatus and infraspinatu A rotator cuff tear is when one or more of these tendons tears or detaches from the humerus. Rotator manşet dört kastan (supraspinatus, infraspinatus, teres minör ve subskapularis) meydana gelir humeral başa yakın bir yere tendonlar aracılığıyla bağlanır ve omuzun stabilitesinde ve fonksiyonunda kritiktir. Rotator manşet yırtığı bu tendonların bir veya daha fazlasının yırtılması veya humerustan ayrılmasıdır CANDIDATE en tr HP:0032201 rdfs:label Rotator cuff tear Rotator manşet yırtığı OFFICIAL -en tr HP:0032202 IAO:0000115 Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognised: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC. Vulvar intraepitelyal neoplazi (VIN) geniş olarak vulvar skuamöz hücre karsinomunun (VSHK) prekursör lezyonu olarak kabul edilmektedir. VSHK ya human papilloma virüsü (HPV) ilişkili yolak aracılığı ile ya da daha sık olarak HPV'den bağımsız bir mekanizma aracılığıyla liken sklerozus (LS) gibi sıklıkla kronik inflamatuvar durumlara bağlıdır. Uygun olarak, iki ayrı VIN alt tipi tanımlanmıştır: HPV-ilişkili yüksek dereeli skuamöz intraepitelyal lezyon/olağan VIN (HSIL/uVIN) ve HPV-ilişkili olmayan farklılaşmış VIN (dVIN). HSIL klinik olarak çoklu, siğil benzeri görünümü ve histolojide dikkat çekici sitolojik ve yapısal atipi ile tanımlanır. Farklılaşmış VIN, diğer yandan sıklıkla hastalıklı lezyonlar üretir ve histolojide herkesin bildiği gibi neoplastik olmayan epitelyal hastalığı (NNED), özellikle LS'yi taklit eder. Sonuç olarak dVIN, VSHK'nın çoğunluk prekürsör lezyonu olmasına rağmen invazif maliganansinin tanısından önce nadiren tanımlanır OFFICIAL +en tr HP:0032202 IAO:0000115 Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognized: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC. Vulvar intraepitelyal neoplazi (VIN) geniş olarak vulvar skuamöz hücre karsinomunun (VSHK) prekursör lezyonu olarak kabul edilmektedir. VSHK ya human papilloma virüsü (HPV) ilişkili yolak aracılığı ile ya da daha sık olarak HPV'den bağımsız bir mekanizma aracılığıyla liken sklerozus (LS) gibi sıklıkla kronik inflamatuvar durumlara bağlıdır. Uygun olarak, iki ayrı VIN alt tipi tanımlanmıştır: HPV-ilişkili yüksek dereeli skuamöz intraepitelyal lezyon/olağan VIN (HSIL/uVIN) ve HPV-ilişkili olmayan farklılaşmış VIN (dVIN). HSIL klinik olarak çoklu, siğil benzeri görünümü ve histolojide dikkat çekici sitolojik ve yapısal atipi ile tanımlanır. Farklılaşmış VIN, diğer yandan sıklıkla hastalıklı lezyonlar üretir ve histolojide herkesin bildiği gibi neoplastik olmayan epitelyal hastalığı (NNED), özellikle LS'yi taklit eder. Sonuç olarak dVIN, VSHK'nın çoğunluk prekürsör lezyonu olmasına rağmen invazif maliganansinin tanısından önce nadiren tanımlanır CANDIDATE en tr HP:0032202 rdfs:label Vulvar intraepithelial neoplasia Vulvar intraepitelyal neoplazi OFFICIAL en tr HP:0032203 IAO:0000115 Lymphoid nodular hyperplasia (LNH) of the terminal ileum and colon has been considered a mucosal response to nonspecific stimuli, most often infections, and consequently has been regarded as a pathophysiologic phenomenon during infancy and childhood. LNH can be ascertained by colonoscopy, whereby a lymphoid nodule is defined as an extruding follicle with a diameter of not more than 2 mm, and LNH is defined as a cluster of not more than 10 of such extruding lymphoid nodules (see Figure 1 of PMID:17368236). Terminal ileumun ve kolonun lenfoid nodüler hiperplazisi (LNH) en sık enfeksiyonlar gibi spesifik olmayan uyarıya mukozal yanıt olduğu kabul edilmektedir ve sonuç olarak süt çocukluğu ve çocukluk esnasında patofizyolojik bir fenomen olarak hesaba katılmaktadır. 2 mm'den daha büyük olmayan çapla uzanan bir folikül olarak tanımlanan lenfoid bir nodül ve LNH bu gibi uzanan lenfoid nodüllerin 10'dan fazla olmayan bir kümesi olarak tanımlanır ve LNH kolonoskopi tarafından doğrulanabilir (bakınız PMID:17368236 Figür 1) OFFICIAL en tr HP:0032203 rdfs:label Lymphoid nodular hyperplasia Lenfoid nodüler hiperplazi OFFICIAL @@ -21896,8 +21896,8 @@ en tr HP:0032270 IAO:0000115 A tram-track sign is composed of two enhancing area en tr HP:0032270 rdfs:label Optic nerve tram-track sign Optik sinir tramvay yolu işareti OFFICIAL en tr HP:0032271 IAO:0000115 A type of tubercular infection located outside of the lung, which is the most common location of tuberculosis. There are two types of clinical manifestation of tuberculosis (TB) are pulmonary TB (PTB) and extrapulmonary TB (EPTB). The former is most common. EPTB refers to TB involving organs other than the lungs (e.g., pleura, lymph nodes, abdomen, genitourinary tract, skin, joints and bones, or meninges). A patient with both pulmonary and EPTB is classified as a case of PTB. Tübekülozisin en sık yerleşi olan akciğerin dışında yerleşmiş tüberküler bir enfeksiyon tipi. Tüberkülozun (TB) iki tip klinik ortaya çıkış lekli vardır, pulmoner (PTB) ve ekstrapulmoner TB (EPTB). Sondaki en sık olandır. EPTB akciğer harici diğer organları (örneğin plevra, lenf nodları, abdomen, genitoüriner yolak, deri, eklemler ve kemikler veya meninksler) tutan TB'ye denir. Hem pulmoner hem de EPTB'li bir hasta PTB vakası olarak sınıflandırılır OFFICIAL en tr HP:0032271 rdfs:label Extrapulmonary tuberculosis Ekstrapulmoner tüberküloz OFFICIAL -en tr HP:0032272 IAO:0000115 Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry. İdrarda artmış N-asetilaspartik asit (NAA). Bu özellik gaz kromotografisi kütle spektrometresi kullanılarak ölçülebilir OFFICIAL -en tr HP:0032272 rdfs:label Elevated urinary N-acetylaspartic acid level Artmış idrar N-asetilaspartik asit seviyesi OFFICIAL +en tr HP:0032272 IAO:0000115 Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry İdrarda artmış N-asetilaspartik asit (NAA). Bu özellik gaz kromotografisi kütle spektrometresi kullanılarak ölçülebilir OFFICIAL +en tr HP:0032272 rdfs:label obsolete Elevated urinary N-acetylaspartic acid level Artmış idrar N-asetilaspartik asit seviyesi CANDIDATE en tr HP:0032273 IAO:0000115 Concentration of N-acetylaspartic acid in the blood circulation above the upper limit of normal. Kan dolaşımında anormal olarak artmış N-asetilaspartik asit konsantrasyonu CANDIDATE en tr HP:0032273 rdfs:label Increased circulating N-acetylaspartic acid concentration Artmış dolaşım N-asetilaspartik asit konsantrasyonu OFFICIAL en tr HP:0032274 IAO:0000115 An abnormally increased concentration of N-acetylaspartic acid in the cerebrospinal fluid (CSF). Beyin omurilik sıvısında (BOS) anormal olarak artmış N-asetilaspartik asit konsantrasyonu CANDIDATE @@ -21971,7 +21971,7 @@ en tr HP:0040053 rdfs:label Long lower eyelashes Uzun alt kirpikler OFFICIAL en tr HP:0040054 rdfs:label Short upper eyelashes Kısa üst kirpikler OFFICIAL en tr HP:0040055 rdfs:label Short lower eyelashes Kısa alt kirpikler OFFICIAL en tr HP:0040056 rdfs:label Absent upper eyelashes Üst kirpik yokluğu OFFICIAL -en tr HP:0040057 rdfs:label Abnormality of nasal hair Burun kılı anormalliği OFFICIAL +en tr HP:0040057 rdfs:label Abnormal nasal hair morphology Burun kılı anormalliği CANDIDATE en tr HP:0040059 rdfs:label Calcification of ribs Kaburgaların kalsifikasyonu OFFICIAL en tr HP:0040061 rdfs:label Osteosclerosis of the radius Radius osteosklerozu OFFICIAL en tr HP:0040062 rdfs:label Slender radius İnce radius OFFICIAL @@ -22040,7 +22040,7 @@ en tr HP:0040127 IAO:0000115 An abnormality of the composition of sweat or the l en tr HP:0040127 rdfs:label Abnormal sweat homeostasis Anormal ter homeostazisi OFFICIAL en tr HP:0040128 rdfs:label Abnormal sweat electrolytes Anormal ter elektrolitleri OFFICIAL en tr HP:0040129 rdfs:label Abnormal nerve conduction velocity Anormal sinir iletimi hızı OFFICIAL -en tr HP:0040130 rdfs:label Abnormal serum iron concentration Anormal serum demiri OFFICIAL +en tr HP:0040130 rdfs:label Abnormal circulating iron concentration Anormal serum demiri CANDIDATE en tr HP:0040131 rdfs:label Abnormal motor nerve conduction velocity Anormal motor sinir iletimi hızı OFFICIAL en tr HP:0040132 rdfs:label Abnormal sensory nerve conduction velocity Anormal duyusal sinir iletimi hızı OFFICIAL en tr HP:0040133 IAO:0000115 A deviation from the normal circulating concentration of ferritin. Ferritin concentration can be measured in serum or plasma. Ferritinin normal dolaşım konsantrasyonundan bir sapma. Ferritin konsantrasyonu serumda veya plazmada ölçülebilir OFFICIAL @@ -22056,8 +22056,8 @@ en tr HP:0040139 IAO:0000115 Yellow nodules of lipoid material are deposited in en tr HP:0040139 rdfs:label Lipogranulomatosis Lipogranülomatozis OFFICIAL en tr HP:0040140 rdfs:label Degeneration of the striatum Striatum dejenerasyonu OFFICIAL en tr HP:0040141 rdfs:label Tardive dyskinesia Tardiv diskinezi OFFICIAL -en tr HP:0040142 IAO:0000115 Decreased level of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate. 5-okso-L-prolin + ATP + 2 H(2)O = L-glutamat + ADP + 2 H(+) + fosfat reaksiyonunun azalmış aktivitesi CANDIDATE -en tr HP:0040142 rdfs:label Reduced 5-oxoprolinase level 5-okzoprolinaz eksikliği CANDIDATE +en tr HP:0040142 IAO:0000115 Activity or concentration of 5-oxoprolinase in the blood circulation below the lower limit of normal. This enzyme catalyzes the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate. 5-okso-L-prolin + ATP + 2 H(2)O = L-glutamat + ADP + 2 H(+) + fosfat reaksiyonunun azalmış aktivitesi CANDIDATE +en tr HP:0040142 rdfs:label Reduced circulating 5-oxoprolinase activity 5-okzoprolinaz eksikliği CANDIDATE en tr HP:0040143 IAO:0000115 Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process. With orthotopic os odontoideum, the ossicle moves with the anterior arch of the atlas, while the dystopic type consists of an ossicle near the basion, or one that is fused with the clivus Os odontoideum, iki anatomik tipe (ortotopik ve distopik) ayrılır. Os odontoideum, odontoid sürecinin pürüzsüz ve ayrı caudal kısımlarından oluşan bir kemik parçası olarak tanımlanır. Ortotopik os odontoideum ile ossikül, atlasın ön kemeri ile hareket ederken, distopik tip, basionun yakınında bir ossikülden veya klivusta ile kaynaştırılmış kemikten oluşur CANDIDATE en tr HP:0040143 rdfs:label Dystopic os odontoideum Distopik os odontoideum OFFICIAL en tr HP:0040144 IAO:0000115 An increase in the level of L-2-hydroxyglutaric acid in the urine. İdrarda L-2-hidroksiglutarik asit seviyelerinde bir artış OFFICIAL @@ -22299,7 +22299,7 @@ en tr HP:0040301 IAO:0000115 An increased concentration of glycerol in the urine en tr HP:0040301 rdfs:label Increased urinary glycerol Artmış idrar gliserolü OFFICIAL en tr HP:0040302 IAO:0000115 Increased concentration of glycerol in the blood. Kanda artmış gliserol konsantrasyonu OFFICIAL en tr HP:0040302 rdfs:label Hyperglycerolemia Hipergliserolemi OFFICIAL -en tr HP:0040303 rdfs:label Decreased serum iron Azalmış serum demiri OFFICIAL +en tr HP:0040303 rdfs:label Decreased circulating iron concentration Azalmış serum demiri CANDIDATE en tr HP:0040304 rdfs:label Duplication of the sella turcica Sella tursikanın duplikasyonu OFFICIAL en tr HP:0040305 IAO:0000115 Increased desire for sexual activity on the part of a male. Bir erkekte artmış cinsel aktivite arzusu CANDIDATE en tr HP:0040305 rdfs:label Increased male libido Artmış erkek libidosu OFFICIAL @@ -22477,7 +22477,7 @@ en tr HP:0100019 IAO:0000115 A cataract which affects the layer of the lens surr en tr HP:0100019 rdfs:label Cortical cataract Kortikal katarakt OFFICIAL en tr HP:0100020 IAO:0000115 A cataract which is found in the back outer layer of the lens. This type often develops more rapidly. Lensin arka dış tabakasında bulunan bir kataraktır. Bu tip sıklıkla daha hızlı gelişir OFFICIAL en tr HP:0100020 rdfs:label Posterior capsular cataract Posterior kapsüler katarakt OFFICIAL -en tr HP:0100021 IAO:0000115 Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems. Beyin felci, gelişmekte olan fetüs veya bebek beyninde meydana gelen ilerlemeyen bozukluklara atfedilen, hareket ve duruşun gelişmesindeki kalıcı bozuklukların bir grubunu, aktivite sınırlamasına neden olarak tanımlar. Beyin felcinin motor bozukluklarına, genellikle duyumsama, algılama, biliş, iletişim ve davranış bozuklukları, epilepsi ve ikincil kas-iskelet problemleri eşlik eder OFFICIAL +en tr HP:0100021 IAO:0000115 Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems. Beyin felci, gelişmekte olan fetüs veya bebek beyninde meydana gelen ilerlemeyen bozukluklara atfedilen, hareket ve duruşun gelişmesindeki kalıcı bozuklukların bir grubunu, aktivite sınırlamasına neden olarak tanımlar. Beyin felcinin motor bozukluklarına, genellikle duyumsama, algılama, biliş, iletişim ve davranış bozuklukları, epilepsi ve ikincil kas-iskelet problemleri eşlik eder CANDIDATE en tr HP:0100021 rdfs:label Cerebral palsy Serebral Palsi OFFICIAL en tr HP:0100022 IAO:0000115 An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. Nörolojik temelli bir hareket anormalliği, istemli hareketlerin koordinasyonunda ve hızında değişiklikler ile karakterizedir OFFICIAL en tr HP:0100022 rdfs:label Abnormality of movement Hareket anomalisi OFFICIAL @@ -22741,7 +22741,7 @@ en tr HP:0100238 IAO:0000115 An abnormal union between bones or parts of bones o en tr HP:0100238 rdfs:label Synostosis involving bones of the upper limbs Üst uzuvların kemiklerini içeren sinostozis OFFICIAL en tr HP:0100240 IAO:0000115 The abnormal fusion of neighboring bones across a joint. Eklemdeki komşu kemiklerin anormal füzyonu OFFICIAL en tr HP:0100240 rdfs:label Synostosis of joints Eklemlerin sinostozisi OFFICIAL -en tr HP:0100241 IAO:0000115 Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations. Ciltte yüzeysel bir lezyon olarak görülen ektopik solunum yolu epiteli, genellikle önkol derisinde tek taraflı lokalizasyonu gösterir ve aynı taraftaki el kusurları ile ilişkilidir OFFICIAL +en tr HP:0100241 IAO:0000115 Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localized unilateral in the skin of the forearm and associated with ipsilateral hand malformations. Ciltte yüzeysel bir lezyon olarak görülen ektopik solunum yolu epiteli, genellikle önkol derisinde tek taraflı lokalizasyonu gösterir ve aynı taraftaki el kusurları ile ilişkilidir CANDIDATE en tr HP:0100241 rdfs:label Ectopic respiratory mucosa Ektopik solunum mukozası OFFICIAL en tr HP:0100242 IAO:0000115 A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant. Mezodermal hücrelerin proliferasyonu ile oluşan bir bağ dokusu neoplazmı. Kemik ve yumuşak doku sarkomaları başlıca sarkomalardır. Sarkoma genellikle çok kötü huyludur OFFICIAL en tr HP:0100242 rdfs:label Sarcoma Sarkoma OFFICIAL @@ -22799,7 +22799,7 @@ en tr HP:0100271 rdfs:label Hyponasal speech Hiponasal konuşma OFFICIAL en tr HP:0100272 IAO:0000115 A congenital branchial sinus is a remnant of the embryonic branchial arches and their intervening clefts and pouches that has failed to regress completely. Sinuses typically have their external orifice inferior to the ramus of the mandible. They may traverse the parotid gland, and run in close vicinity to the facial nerve in the external auditory canal. Doğumsal bir brankiyal sinüs embriyonik brankiyal arkların ve onların aralarındaki yarıkların ve keselerin tamamen gerileyemediği bir artıktır. Sinüsler mandibula ramusunun aşağısında tipik olarak dış açıklığa sahiptir. Parotis bezini çaprazlayabilir ve dış işitme kanalında fasyal sinir yakın çevresinde ilerleyebilir OFFICIAL en tr HP:0100272 rdfs:label Branchial sinus Brankial sinüs OFFICIAL en tr HP:0100273 rdfs:label Neoplasm of the colon Kolon neoplazmı OFFICIAL -en tr HP:0100274 IAO:0000115 Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal. Tat duyusu ile göz yaşı salgılanması normalde submandibüler gangliyon için gönderilen yedinci kafa sinir liflerinin pterigopalantin gangliyona gittiği atipik uyarılmadan kaynaklanmaktadır. Bu atipik uyarım yerken veya yemek beklerken kontrolsüz göz yaşarmasına yol açmaktadır OFFICIAL +en tr HP:0100274 IAO:0000115 Gustatory lacrimation results from an aberrant innervation of fibers from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal. Tat duyusu ile göz yaşı salgılanması normalde submandibüler gangliyon için gönderilen yedinci kafa sinir liflerinin pterigopalantin gangliyona gittiği atipik uyarılmadan kaynaklanmaktadır. Bu atipik uyarım yerken veya yemek beklerken kontrolsüz göz yaşarmasına yol açmaktadır CANDIDATE en tr HP:0100274 rdfs:label Gustatory lacrimation Tat duyusu ile ilgili lakrimasyon OFFICIAL en tr HP:0100275 IAO:0000115 Diffuse unlocalised atrophy affecting the cerebellum. Beyinciği etkileyen yaygın lokalleşmemiş atrofi OFFICIAL en tr HP:0100275 rdfs:label Diffuse cerebellar atrophy Yaygın beyincik atrofisi OFFICIAL @@ -22879,7 +22879,7 @@ en tr HP:0100323 IAO:0000115 Juvenile aseptic necrosis comprises a group of orth en tr HP:0100323 rdfs:label Juvenile aseptic necrosis Juvenil aseptik nekroz OFFICIAL en tr HP:0100324 IAO:0000115 A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin. Ciltte fibrozis (veya sertleşme) ve vasküler değişikliklerle karakterize kronik otoimmün bir fenomen OFFICIAL en tr HP:0100324 rdfs:label Scleroderma Skleroderma OFFICIAL -en tr HP:0100326 IAO:0000115 Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens. Duyarlılık oluşturan antijenlere yeniden maruziyeti takiben bağışıklık sisteminin zararlı yanıtlar ürettiği immünolojik durumlar OFFICIAL +en tr HP:0100326 IAO:0000115 Immunological states where the immune system produces harmful responses upon reexposure to sensitizing antigens. Duyarlılık oluşturan antijenlere yeniden maruziyeti takiben bağışıklık sisteminin zararlı yanıtlar ürettiği immünolojik durumlar CANDIDATE en tr HP:0100326 rdfs:label Immunologic hypersensitivity İmmünolojik hipersensitivite OFFICIAL en tr HP:0100327 IAO:0000115 Hypersensitivity in form of an adverse immune reaction against cow milk protein. İnek sütü proteinine karşı advers bir bağışıklık reaksiyonu şeklinde aşırı duyarlılık OFFICIAL en tr HP:0100327 rdfs:label Cow milk allergy İnek sütü alerjisi OFFICIAL @@ -23448,7 +23448,7 @@ en tr HP:0100682 IAO:0000115 A congenital absence or considerable underdevelopme en tr HP:0100682 rdfs:label Tracheal atresia Trakeal atrezi OFFICIAL en tr HP:0100684 IAO:0000115 A tumor (abnormal growth of tissue) of a salivary gland. Tükrük bezinin bir tümörü (anormal doku büyümesi) OFFICIAL en tr HP:0100684 rdfs:label Salivary gland neoplasm Tükrük bezi neoplazisi OFFICIAL -en tr HP:0100685 IAO:0000115 An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone. Periosteumu kemiğe bağlayan güçlü kolajen lif demetlerinden oluşan bağ dokusunun bir matrisi olan Sharpey liflerinin (kemik lifleri veya delici lifler) bir anormalliği OFFICIAL +en tr HP:0100685 IAO:0000115 An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibers connecting periosteum to bone. Periosteumu kemiğe bağlayan güçlü kolajen lif demetlerinden oluşan bağ dokusunun bir matrisi olan Sharpey liflerinin (kemik lifleri veya delici lifler) bir anormalliği CANDIDATE en tr HP:0100685 rdfs:label Abnormal Sharpey fiber morphology Sharpey liflerinin anormalliği OFFICIAL en tr HP:0100686 rdfs:label Enthesitis Entezit OFFICIAL en tr HP:0100687 IAO:0000115 The presence of an extra auricle on one or both sides of the head. Kafanın bir ya da iki tarafında fazladan bir kulak kepçesi varlığı CANDIDATE @@ -23676,7 +23676,7 @@ en tr HP:0100829 rdfs:label Galactorrhea Galaktore OFFICIAL en tr HP:0100830 rdfs:label Round ear Yuvarlak kulak OFFICIAL en tr HP:0100831 IAO:0000115 Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade. Vitamin K, koagülasyon kaskadının gelişiminde rolü olan yağda eriyen bir vitamindir CANDIDATE en tr HP:0100831 rdfs:label Abnormality of vitamin K metabolism K vitamini metabolizması anormalliği OFFICIAL -en tr HP:0100832 IAO:0000115 Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent. Normalde şeffaf olan gözün vitröz mizahındaki çeşitli boyut, şekil, tutarlılık, kırılma indeksi ve hareketliliğin biriktirilmesi CANDIDATE +en tr HP:0100832 IAO:0000115 Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humor, which is normally transparent. Normalde şeffaf olan gözün vitröz mizahındaki çeşitli boyut, şekil, tutarlılık, kırılma indeksi ve hareketliliğin biriktirilmesi CANDIDATE en tr HP:0100832 rdfs:label Vitreous floaters Vitröz yüzenler OFFICIAL en tr HP:0100833 IAO:0000115 The presence of a neoplasm of the small intestine. İnce barsak neoplazmı varlığı OFFICIAL en tr HP:0100833 rdfs:label Neoplasm of the small intestine İnce bağırsak neoplazması OFFICIAL @@ -23881,7 +23881,7 @@ en tr HP:0100959 rdfs:label Dense metaphyseal bands Yoğun metafizyal bantlar OF en tr HP:0100960 rdfs:label Lateral ventricular asymmetry Asimetrik ventriküller CANDIDATE en tr HP:0100961 IAO:0000115 Increase in size of the hippocampus. Hipokampus boyutunda artış OFFICIAL en tr HP:0100961 rdfs:label Enlarged hippocampus Genişlemiş hipokampüs OFFICIAL -en tr HP:0100962 rdfs:label Shyness Utangaçlık OFFICIAL +en tr HP:0100962 rdfs:label Excessive shyness Utangaçlık CANDIDATE en tr HP:0100963 rdfs:label Hyperesthesia Hiperestezi OFFICIAL en tr HP:0200000 IAO:0000115 Different levels of maturation of different bones. Farklı kemiklerin farklı düzeylerde olgunlaşması CANDIDATE en tr HP:0200000 rdfs:label Dysharmonic skeletal maturation Disharmonik kemik yaşı CANDIDATE @@ -24261,20 +24261,20 @@ en tr HP:0410190 IAO:0000115 A decrease in the level of glucose-6-phosphate dehy en tr HP:0410190 rdfs:label Decreased glucose-6-phosphate dehydrogenase level in leukocytes Lökositlerde azalmış glukoz-6-fosfat dehidrogenaz seviyesi OFFICIAL en tr HP:0410191 IAO:0000115 An increase in the level of glucose-6-phosphate dehydrogenase in leukocytes. Lökositlerde glukoz-6-fosfat dehidrogenaz seviyesinde bir artış OFFICIAL en tr HP:0410191 rdfs:label Increased glucose-6-phosphate dehydrogenase level in leukocytes Lökositlerde artmış glukoz-6-fosfat dehidrogenaz seviyesi OFFICIAL -en tr HP:0410192 IAO:0000115 An abnormality in uridine diphosphate glucose-4-epimerase level, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose. UDP-glukoz = UDP-galaktoz reaksiyonunu katalizleyen bir enzim olan üridin difosfat glukoz-4-epimeraz aktivitesinde bir anormallik CANDIDATE -en tr HP:0410192 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level Anormal üridin difosfat glukoz-4-epimeraz aktivitesi CANDIDATE +en tr HP:0410192 IAO:0000115 An abnormality in uridine diphosphate glucose-4-epimerase level, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose UDP-glukoz = UDP-galaktoz reaksiyonunu katalizleyen bir enzim olan üridin difosfat glukoz-4-epimeraz aktivitesinde bir anormallik CANDIDATE +en tr HP:0410192 rdfs:label obsolete Abnormal uridine diphosphate glucose-4-epimerase level Anormal üridin difosfat glukoz-4-epimeraz aktivitesi CANDIDATE en tr HP:0410193 IAO:0000115 An abnormality in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. Plazmada üridin difosfat glukoz-4-epimeraz aktivitesinde bir anormallik. Üridin difosfat glukoz-4-epimeraz UDP-glukoz = UDP-galaktoz reaksiyonunu katalizler CANDIDATE -en tr HP:0410193 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level in plasma Plazmada anormal üridin difosfat glukoz-4-epimeraz aktivitesi CANDIDATE +en tr HP:0410193 rdfs:label Abnormal circulating UDP glucose-4-epimerase concentration Plazmada anormal üridin difosfat glukoz-4-epimeraz aktivitesi CANDIDATE en tr HP:0410194 IAO:0000115 An increase in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. Plazmada üridin difosfat glukoz-4-epimeraz aktivitesinde bir artış. Üridin difosfat glukoz-4-epimeraz UDP-glukoz = UDP-galaktoz reaksiyonunu katalizler CANDIDATE -en tr HP:0410194 rdfs:label Increased uridine diphosphate glucose-4-epimerase level in plasma Plazmada artmış üridin difosfat glukoz-4-epimeraz aktivitesi CANDIDATE +en tr HP:0410194 rdfs:label Increased circulating UDP glucose-4-epimerase concentration Plazmada artmış üridin difosfat glukoz-4-epimeraz aktivitesi CANDIDATE en tr HP:0410195 IAO:0000115 A decrease in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. Plazmada üridin difosfat glukoz-4-epimeraz aktivitesinde bir düşüş. Üridin difosfat glukoz-4-epimeraz UDP-glukoz = UDP-galaktoz reaksiyonunu katalizler CANDIDATE -en tr HP:0410195 rdfs:label Decreased uridine diphosphate glucose-4-epimerase level in plasma Plazmada azalmış üridin difosfat glukoz-4-epimeraz aktivitesi CANDIDATE +en tr HP:0410195 rdfs:label Decreased circulating UDP glucose-4-epimerase concentration Plazmada azalmış üridin difosfat glukoz-4-epimeraz aktivitesi CANDIDATE en tr HP:0410196 IAO:0000115 An abnormality in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. Kırmızı kan hücrelerinde üridin difosfat glukoz-4-epimeraz aktivitesinde bir anormallik. Üridin difosfat glukoz-4-epimeraz UDP-glukoz = UDP-galaktoz reaksiyonunu katalizler CANDIDATE -en tr HP:0410196 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells Kırmızı kan hücrelerinde anormal üridin difosfat glukoz-4-epimeraz aktivitesi CANDIDATE +en tr HP:0410196 rdfs:label Abnormal erythrocyte UDP glucose-4-epimerase concentration Kırmızı kan hücrelerinde anormal üridin difosfat glukoz-4-epimeraz aktivitesi CANDIDATE en tr HP:0410197 IAO:0000115 An increase in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. Kırmızı kan hücrelerinde üridin difosfat glukoz-4-epimeraz aktivitesinde bir artış. Üridin difosfat glukoz-4-epimeraz UDP-glukoz = UDP-galaktoz reaksiyonunu katalizler CANDIDATE -en tr HP:0410197 rdfs:label Increased uridine diphosphate glucose-4-epimerase level in red blood cells Kırmızı kan hücrelerinde artmış üridin difosfat glukoz-4-epimeraz aktivitesi CANDIDATE +en tr HP:0410197 rdfs:label Increased erythrocyte UDP glucose-4-epimerase concentration Kırmızı kan hücrelerinde artmış üridin difosfat glukoz-4-epimeraz aktivitesi CANDIDATE en tr HP:0410198 IAO:0000115 A decrease in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. Kırmızı kan hücrelerinde üridin difosfat glukoz-4-epimeraz aktivitesinde bir azalma. Üridin difosfat glukoz-4-epimeraz UDP-glukoz = UDP-galaktoz reaksiyonunu katalizler CANDIDATE -en tr HP:0410198 rdfs:label Decreased uridine diphosphate glucose-4-epimerase level in red blood cells Kırmızı kan hücrelerinde azalmış üridin difosfat glukoz-4-epimeraz aktivitesi CANDIDATE +en tr HP:0410198 rdfs:label Decreased erythrocyte UDP glucose-4-epimerase concentration Kırmızı kan hücrelerinde azalmış üridin difosfat glukoz-4-epimeraz aktivitesi CANDIDATE en tr HP:0410199 IAO:0000115 Increased concentration of urate in the cerebrospinal fluid. Beyin omurilik sıvısında artmış ürat konsantrasyonu OFFICIAL en tr HP:0410199 rdfs:label Increased CSF urate concentration Artmış BOS ürat konsantrasyonu OFFICIAL en tr HP:0410200 IAO:0000115 Detection of barbiturate metabolites such as phenobarbital in meconium. Fenobarbital gibi barbitürat metabolitlerinin mekonyumda tespiti OFFICIAL @@ -24661,7 +24661,7 @@ en tr HP:0500066 IAO:0000115 The difference between total and manifest myopia. T en tr HP:0500066 rdfs:label Latent myopia Latent myopi OFFICIAL en tr HP:0500069 IAO:0000115 A type of ectropion associated with orbicularis muscle weakness caused by cranial nerve VII palsy. Kraniyal sinir VII palsisi nedeniyle orbikülaris kas zayıflığı ile ilişkili bir ektropiyon tipi OFFICIAL en tr HP:0500069 rdfs:label Paralytic ectropion Paralitik ektropiyon OFFICIAL -en tr HP:0500070 IAO:0000115 A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus. Yağ dokusu ve yoğun bağ dokusundan oluşan konjonktival bir lezyon. Dermal bileşenlerin bu koristomaları normal olarak dış kantusta bulunur ve jelatinimsi bir görünüme sahiptir. Klasik olarak belirsiz posterior sınır (sıkça göz çukuru içine uzanan lezyon ile) ve limbus posterioruna bir kaç milimetre mesafede iyi sınırlı anterior sınır vardır OFFICIAL +en tr HP:0500070 IAO:0000115 A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimeters posterior to the limbus. Yağ dokusu ve yoğun bağ dokusundan oluşan konjonktival bir lezyon. Dermal bileşenlerin bu koristomaları normal olarak dış kantusta bulunur ve jelatinimsi bir görünüme sahiptir. Klasik olarak belirsiz posterior sınır (sıkça göz çukuru içine uzanan lezyon ile) ve limbus posterioruna bir kaç milimetre mesafede iyi sınırlı anterior sınır vardır CANDIDATE en tr HP:0500070 rdfs:label Conjunctival dermolipoma Konjunktival dermolipoma OFFICIAL en tr HP:0500072 IAO:0000115 Eccentric fixation in which the angle of eccentricity equals the objective angle of deviation. Dış merkezlilik açısının nesnel sapma açısına eşit olduğu merkezdışı sabitleme OFFICIAL en tr HP:0500072 rdfs:label Absolute eccentric fixation Mutlak eksantrik sabitlenme OFFICIAL @@ -24681,7 +24681,7 @@ en tr HP:0500079 IAO:0000115 A type of vertical phoria in which, in dissociation en tr HP:0500079 rdfs:label Alternating hypophoria Değişken hipofori OFFICIAL en tr HP:0500081 IAO:0000115 The term pseudophakia refers to having an artificial lens implanted after the natural eye lens has been removed. During cataract surgery the natural cloudy lens is replaced by an pseudophakia intraocular lens (IOL). Psödofaki doğal göz lensi çıkartıltıktan sonra implante edilmiş yapay bir lense sahip olmaya denir. Doğal bulutsu lens katarakt cerrahisi esnasında psödofaki intraoküler lens (İOL) ile değiştirilir OFFICIAL en tr HP:0500081 rdfs:label Pseudophakia Psödofaki OFFICIAL -en tr HP:0500086 IAO:0000115 Having a characteristic appearance of a slate gray area of pigmentation within the disc margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas. Ortak olarak inferotemporal veya temporal nöroretinal sınır alanları boyunca gözüken disk sınırları içinde arduvaz grisi karakteristik bir pigmentasyon alan görünümüne sahip olan OFFICIAL +en tr HP:0500086 IAO:0000115 Having a characteristic appearance of a slate gray area of pigmentation within the disk margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas. Ortak olarak inferotemporal veya temporal nöroretinal sınır alanları boyunca gözüken disk sınırları içinde arduvaz grisi karakteristik bir pigmentasyon alan görünümüne sahip olan CANDIDATE en tr HP:0500086 rdfs:label Optic nerve gray crescent Optik sinir gri hilali OFFICIAL en tr HP:0500087 IAO:0000115 Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve. Optik sinir etrafında retina ve retinal pigment epitelyum katmanlarında inceleşme OFFICIAL en tr HP:0500087 rdfs:label Peripapillary atrophy Peripapiller atrofi OFFICIAL @@ -24691,7 +24691,7 @@ en tr HP:0500089 IAO:0000115 A benign tumor of meningothelial cells of the menin en tr HP:0500089 rdfs:label Optic nerve sheath meningioma Optik sinir kılıfı menenjiyomu OFFICIAL en tr HP:0500090 IAO:0000115 A capillary hemangioma surrounding the eyeball but within the orbit. Göz küresini çevreleyen fakat göz çukuru içinde olan bir kapiller hemanjiyoma OFFICIAL en tr HP:0500090 rdfs:label Periocular capillary hemangioma Perioküler kapiller hemanjiyoma OFFICIAL -en tr HP:0500091 IAO:0000115 A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva manoeuvre. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to haemorrhage. Genellikle çocuklukta kendini gösteren lenf damarlarının bir hamartomu. Baş aşağı duruş ve Valsalva manevrası ile boyutta artış gösterme eğilimindedir. Yüzeysel lezyonlar göz kapağının veya konjunktivanın arkadan ışık ile aydınlanabilecek, kan da içerebilen kistik boşluklar olarak görünür. Derin lezyonlar kademeli propitozise neden olabilir veya akut olarak orbital ağrı ve hemorajiye bağlı olarak azalmış görüş ile kendini gösterir OFFICIAL +en tr HP:0500091 IAO:0000115 A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva maneuver. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to hemorrhage. Genellikle çocuklukta kendini gösteren lenf damarlarının bir hamartomu. Baş aşağı duruş ve Valsalva manevrası ile boyutta artış gösterme eğilimindedir. Yüzeysel lezyonlar göz kapağının veya konjunktivanın arkadan ışık ile aydınlanabilecek, kan da içerebilen kistik boşluklar olarak görünür. Derin lezyonlar kademeli propitozise neden olabilir veya akut olarak orbital ağrı ve hemorajiye bağlı olarak azalmış görüş ile kendini gösterir CANDIDATE en tr HP:0500091 rdfs:label Lymphangioma of the orbit Göz küresi lenfanjiyoması OFFICIAL en tr HP:0500092 IAO:0000115 A mesenchymal tumor that is considered to be the commonest primary orbital malignancy in children. Histologically, it may be differentiated into embryonal, alveolar, and pleomorphic types. It is usually intraconal or within the superior orbit. Çocuklardaki en sık birincil orbital kötü huylu tümör olduğu düşünülen mezenkimal bir tümör. Histolojik olarak embriyonel, alveolar ve pleomorfik tiplere farklılaşabilir. Genellikle intrakonaldir veya superior orbita içindedir CANDIDATE en tr HP:0500092 rdfs:label Orbital rhabdomyosarcoma Orbital rabdomyosarkom OFFICIAL @@ -24823,8 +24823,8 @@ en tr HP:3000002 IAO:0000115 Any structural anomaly of an inner ear epithelium. en tr HP:3000002 rdfs:label Abnormal inner ear epithelium morphology Anormal iç kulak epiteli morfolojisi OFFICIAL en tr HP:3000003 IAO:0000115 An abnormality of a mandibular ramus. Mandibular ramusun bir anormalliği OFFICIAL en tr HP:3000003 rdfs:label Abnormal mandibular ramus morphology Mandibular ramus anormalliği OFFICIAL -en tr HP:3000004 IAO:0000115 An abnormality of a frontalis muscle belly. Frontalis kas karnının bir anormalliği OFFICIAL -en tr HP:3000004 rdfs:label Abnormality of frontalis muscle belly Frontalis kas karnının anormalliği OFFICIAL +en tr HP:3000004 IAO:0000115 Abnormal function of the frontalis muscle, which covers parts of the forehead and is responsible for raising the eyebrows. Frontalis kas karnının bir anormalliği CANDIDATE +en tr HP:3000004 rdfs:label Abnormal frontalis muscle physiology Frontalis kas karnının anormalliği CANDIDATE en tr HP:3000005 IAO:0000115 An abnormality of a masseter muscle. Masseter kasının bir anormalliği OFFICIAL en tr HP:3000005 rdfs:label Abnormality of masseter muscle Masseter kasının anormalliği OFFICIAL en tr HP:3000006 IAO:0000115 An abnormality of a medial pterygoid muscle. Mediyal pterigoid kasının bir anormalliği OFFICIAL diff --git a/src/translations/hp-tr.babelon.owl b/src/translations/hp-tr.babelon.owl index d98ffa70b..06408e45c 100644 --- a/src/translations/hp-tr.babelon.owl +++ b/src/translations/hp-tr.babelon.owl @@ -11,8 +11,8 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:babelon="https://w3id.org/babelon/"> - - 2024-03-06 + + 2024-04-03 @@ -6844,9 +6844,9 @@ Koana anormalliği en - Abnormality of the choanae + Abnormal choanae morphology tr - OFFICIAL + CANDIDATE İnce burun @@ -8867,9 +8867,9 @@ Optik diskin (retinadaki optik sinir başı alanı) soluk sarı bir renk alması. Optik disk normalde ortasında sarımsı basıklık olan pembemsi bir tona sahiptir en - A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. + A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. tr - OFFICIAL + CANDIDATE @@ -10919,9 +10919,9 @@ Oküler motor apraksi istemli, yatay, yan, yavaş takip hareketlerinin korunduğu hızlı göz hareketlerindeki (salınımlar) eksikliklerdir. Görsel olarak nesneleri takip etmedeki yetenek sıklıkla kafa hareketleri ile telafi edilmektedir. Düz takipte azalma ve vestibülo-oküler refleksin ortadan kalkması olabilir en - Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex. + Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex. tr - OFFICIAL + CANDIDATE @@ -11317,9 +11317,9 @@ Diş minesinin grimsi renk değişikliği en - A grey discoloration of the dental enamel. + A gray discoloration of the dental enamel. tr - OFFICIAL + CANDIDATE @@ -12102,7 +12102,7 @@ Stereotipi en - Abnormal repetitive mannerisms + Motor stereotypy tr CANDIDATE @@ -19875,7 +19875,7 @@ Nöbetler ani, aşırı, hastalık düzeyindeki serebral nöronların boşalımı nedeniyle oluşan klinik olarak his bozukluğu, bilinç kaybı, fiziksel fonksiyon bozukluğu veya konvulzif hareketler kombinasyonu ile karakterize merkezi sinir sisteminin aralar ile gerçekleşen anormalliğidir. Epilepsi terimi kronik, tekrar eden nöbetleri tanımlamak için kullanılmaktadır en - A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. + A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. tr CANDIDATE @@ -28836,9 +28836,9 @@ Artmış hemoglobin en - Increased hemoglobin + Increased circulating hemoglobin concentration tr - OFFICIAL + CANDIDATE Eğer kırmızı kan sayımı, hemoglobin seviyesi ve kırmızı kan hücresi hacminin hepsi normal aralığın üst limitini aşarsa polisitemi tanısı koyulur @@ -32485,7 +32485,7 @@ Absans nöbetleri hareket ve uyanıklığın ani kesilmesi ile kendini gösterir. Absans nöbetleri genç yaş gruplarında meydana gelmeye eğimlidir, daha erken başlangıç ve bitişe sahiptir ve bozulmuş uyanıklık ile olan fokal nöbetlerin gösterdiğinden daha az karmaşık fakat ayrımının mutlak olmadığı otomatizmalar sergiler en - A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. + A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. tr CANDIDATE @@ -32507,7 +32507,7 @@ Kas(lar) ın veya değişik topografideki (aksiyal, proksimal uzuv, distal) kas gruplarının ani, kısa (<100 ms) istemsiz tek veya çoklu kasılması(ları) ile olan nöbetler en - A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. + A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. tr CANDIDATE @@ -37147,7 +37147,7 @@ İlkel refleksler, normal erken gelişimde bulunan, daha sonra inhibe edilen, ancak serebral, genellikle frontal hasarla inhibisyondan salınabilen bir grup davranışsal motor tepkisidir. Bu nedenle, abartılı esnek refleksler ve ekstansör bataklıklar gibi serbest bırakma olaylarını yansıtan daha geniş bir refleks grubunun parçasıdırlar. Bununla birlikte, bu tür basit esnek reflekslerden daha karmaşık motor yanıtları içerirler ve genellikle yeni doğanlarda veya bebeklerde normal bir özelliktir en - The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant. + The primitive reflexes are a group of behavioral motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant. tr CANDIDATE @@ -41131,7 +41131,7 @@ Suratın iki tarafını da etkileyen yarık dudak ve yarık damak en - Cleft lip and cleft palate affecting both sides of the face. + Cleft lip and cleft palate affecting both sides of the face tr OFFICIAL @@ -41140,9 +41140,9 @@ Çift taraflı yarık dudak ve damak en - Bilateral cleft lip and palate + obsolete Bilateral cleft lip and palate tr - OFFICIAL + CANDIDATE Ovuşturulamayan oral mukozada kalınlaşmış beyaz bir yama @@ -47877,7 +47877,7 @@ Kromozomların değişime veya bozulmaya karşı direncini düşüren bir çeşit kromozomal sapma en - A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration. + A type of chromosomal aberration characterized by reduced resistance of chromosomes to change or deterioration. tr CANDIDATE @@ -51082,9 +51082,9 @@ Artmış serum demiri en - Increased serum iron + Increased circulating iron concentration tr - OFFICIAL + CANDIDATE Serumda nötrofillere tepki veren otoantikorların varlığı @@ -53133,7 +53133,7 @@ 4-hidroksifenilpirüvat dioksijenaz aktivitesinde anormal bir azalma en - An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase level. + Activity or concentration of 4-hydroxyphenylpyruvate dioxygenase in the blood circulation below the lower limit of normal. tr CANDIDATE @@ -53142,7 +53142,7 @@ Azalmış 4-hidroksifenilpirüvat dioksijenaz aktivitesi en - Reduced 4-Hydroxyphenylpyruvate dioxygenase level + Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity tr CANDIDATE @@ -60421,7 +60421,7 @@ Göz yuvarlağının ön bölümünde bir anormallik (vitröz hümorun önündeki yapıları içerir: kornea, iris, silier cisim ve lens) en - An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens). + An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humor: the cornea, iris, ciliary body, and lens). tr CANDIDATE @@ -61645,7 +61645,7 @@ Gastrointestinal kanalın bir ülseri en - The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the oesophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers. + The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the esophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers. tr CANDIDATE @@ -62188,9 +62188,9 @@ Kompleman eksikliği en - Complement deficiency + Reduced circulating complement concentration tr - OFFICIAL + CANDIDATE Kandaki genellikle tüm gama globulin sınıflarında yokluk veya aşırı düşük seviye @@ -66379,7 +66379,7 @@ Anormal yüksek miktarda hemoglobin içeren anormal büyüklükte eritrositlerle karakterize edilen bir tür anemi en - A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin. + A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of hemoglobin. tr CANDIDATE @@ -69073,7 +69073,7 @@ Vertebral disklerin üst ve alt kısımları olan vertebral uç plakalarının herhangi bir anormalliği, vertebral disklerle arabirim oluşturur en - Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs. + Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral disks. tr CANDIDATE @@ -71514,9 +71514,9 @@ Nazolabiyal bölgenin anormalliği en - Abnormality of the nasolabial region + Abnormal nasolabial region morphology tr - OFFICIAL + CANDIDATE İnternal katoris arter hipoplazisi @@ -82646,9 +82646,9 @@ Geniş femoral metafizler en - Broad femoral metaphyses + Wide femoral metaphysis tr - OFFICIAL + CANDIDATE Radiusta asimetrik gelişimsel displazisi varlığı @@ -82758,7 +82758,7 @@ Proksimal femoral metafizyal anormallik en - Proximal femoral metaphyseal abnormality + Abnormal proximal femoral metaphysis morphology tr CANDIDATE @@ -90831,7 +90831,7 @@ Gizlice nitelenen yokluk tutulmaları başlar ve biter ve sık sık süreci uzatır, Elektroensefalografi üzerinde yavaş dik-dalga deşarjları tarafından eşlik edilir en - An atypical absence seizure is a type of generalised non-motor (absence) seizure characterised by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity. + An atypical absence seizure is a type of generalized non-motor (absence) seizure characterized by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity. tr CANDIDATE @@ -92253,7 +92253,7 @@ Porto şarap lekesi alnın derisinde lokalizedir en - Naevus flammeus localised in the skin of the forehead. + Naevus flammeus localized in the skin of the forehead. tr CANDIDATE @@ -94351,7 +94351,7 @@ Naevus flammeus un boyun derisine yerleşmesi. Bu, en yaygın doğum lekelerinden biridir ve tüm yeni doğanların yaklaşık% 25'inde mevcuttur en - Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns. + Naevus flammeus localized in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns. tr CANDIDATE @@ -94521,7 +94521,7 @@ Akut bir durum, ani görme kaybı (genellikle sabahları ortaya çıkar) başlangıçta optik disk ödemi, optik diske bağlı görme bozukluklarıyla karakterize edilir. Nonarteritik anterior iskemik optik nöropati, şişmiş disk üzerinde ya da yakındaki nöroretinal tabakada alev şeklinde kanamalarla ve yakınlardaki pamuklu-yün şeklindeki eksüdalarla bağlantılı olabilir en - An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates. + An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disk or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates. tr CANDIDATE @@ -95811,9 +95811,9 @@ Artmış retinal dekolman riski ile ilişkili olabilen vitrözün ve retinanın prematür dejenerasyonu ile karakterize oküler anormallik en - Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. + Ocular abnormality characterized by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. tr - OFFICIAL + CANDIDATE @@ -96953,7 +96953,7 @@ Fundusun pigmentasyonunun azalması, tipik olarak genelleştirilebilir. Fundoskopi RPE de koroid damarlarının berrak görünebilirliği ile (renksiz / albinoid) veya koroiddeki derin pigmentli RPE de düşük pigment seviyesi ile RPE de ve koroidde düşük seviyeli bir pigment ortaya çıkarabilir, böylece görünür koroid damarları derin pigmentli bölgeler (mozaik / benekli) ile ayrılır en - Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid). + Reduced pigmentation of the fundus, typically generalized. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid). tr CANDIDATE @@ -97637,7 +97637,7 @@ Optik diskten arka mercek kapsülüne kadar uzanan embriyonik arter olan hiyaloid arterinin inatçılığı devam edebilir; bağlanma yeri opaklık oluşturabilir. Hiyaloid arter oftalmik arterin bir dalıdır ve genellikle doğumdan önce tamamen geriler. Bu özellikler, embriyogenez sırasında primer vitreusa neden olan ve genellikle gebeliğin üçüncü üç aylık döneminde gerileyen hiyaloid damarın gerilemesindeki başarısızlıktan kaynaklanır ve belirli bir posterior katarakt şekline neden olur en - Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract. + Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract. tr CANDIDATE @@ -102548,9 +102548,9 @@ İntervertebral disk dejenerasyonu en - Intervertebral disc degeneration + Intervertebral disk degeneration tr - OFFICIAL + CANDIDATE Vertebral cisimlerin kemiğinin nokta biçiminde kalsifikasyonunun varlığı @@ -103646,9 +103646,9 @@ Kalıcı dişlenmenin olmaması en - No permanent dentition + obsolete No permanent dentition tr - OFFICIAL + CANDIDATE +5.00 dioptri ile şiddetli bir hipermetrop şekli @@ -103681,7 +103681,7 @@ Damak orta hattını etkileyen yarık dudak veya damak en - Cleft lip or palate affecting the midline region of the palate. + Cleft lip or palate affecting the midline region of the palate tr CANDIDATE @@ -103690,9 +103690,9 @@ Orta hat yarık dudak ve damak en - Median cleft lip and palate + obsolete Median cleft lip and palate tr - OFFICIAL + CANDIDATE Sensörinöral işitme bozukluğunun orta dereceli bir formunun varlığı @@ -104661,18 +104661,18 @@ Mesanenin anormal genişlemesi en - Abnormal enlargement of the urinary bladder. + Increase in thickness of the wall of the urinary bladder. This finding may be seen in conditions such as bladder outlet obstruction and may be accompanied by increased trabeculation of the bladder wall musculature. tr - OFFICIAL + CANDIDATE Mesane hipertrofisi en - Hypertrophy of the urinary bladder + Urinary bladder wall hypertrophy tr - OFFICIAL + CANDIDATE Lobüler glomerülopati @@ -118317,7 +118317,7 @@ Nörofibromatozis tip 1'de sıklıkla gözlenenden daha az sayıda nörofibroma vardır en - Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1. + Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1 tr OFFICIAL @@ -118326,9 +118326,9 @@ Nadir nörofibromlar en - Occasional neurofibromas + obsolete Occasional neurofibromas tr - OFFICIAL + CANDIDATE 2. parmağın proksimal falanksının yokluğu @@ -120811,9 +120811,9 @@ Pigmentasyonu eksik retina sahaları. Boyut olarak 1 disk çapından daha az ve retinanın orta periferinde yer almaya meyilli delikli koryoretinal hipopigmentasyon sahaları en - Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina. + Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disk diameter in size and tending to be located in the midperiphery of the retina. tr - OFFICIAL + CANDIDATE @@ -124275,7 +124275,7 @@ Şeffaf arterin kalıcılığı, buda arka mercek kapsülünün optik diskten çalıştırılan embriyonik arteri sürdürebilir; bağlılığın yeri opaklık oluşturabilir. Şeffaf arter gözle ilgili arterin dalıdır, ve genellikle doğumdan önce tamamen geri çekilir en - Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. + Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. tr CANDIDATE @@ -124284,9 +124284,9 @@ Diskten köken alan vasküler kalıntı en - Vascular remnant arising from the disc + Vascular remnant arising from the disk tr - OFFICIAL + CANDIDATE Burnun veya dolayısı ile kısımlarının tam gelişmemesi veya yokluğu @@ -129735,9 +129735,9 @@ Üçüncü metakarpalin normal epifizi metakarpal kemiğin distal ucunda yerleşmiştir. Bu terim eğer metakarpal kemiğin proksimal ucunda yer alan aksesuvar bir epifiz varlığında geçerlidir en - The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. + The normal epiphysis of the third metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. tr - OFFICIAL + CANDIDATE @@ -129779,9 +129779,9 @@ Dördüncü metakarpalin normal epifizi metakarpal kemiğin distal ucunda yerleşmiştir. Bu terim eğer metakarpal kemiğin proksimal ucunda yer alan aksesuvar bir epifiz varlığında geçerlidir en - The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. + The normal epiphysis of the fourth metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. tr - OFFICIAL + CANDIDATE @@ -129823,9 +129823,9 @@ Beşinci metakarpalin normal epifizi metakarpal kemiğin distal ucunda yerleşmiştir. Bu terim eğer metakarpal kemiğin proksimal ucunda yer alan aksesuvar bir epifiz varlığında geçerlidir en - The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. + The normal epiphysis of the fifth metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. tr - OFFICIAL + CANDIDATE @@ -136366,9 +136366,9 @@ Üçgen epifizler en - Triangular epiphyses + Triangular epiphysis tr - OFFICIAL + CANDIDATE Her bir uzun kemiğin metafizinde epifizyal plak hiyalin kıkırdak tabakada büyüme duraksaması ve dahil olan kemiğin kısalması ile sonuçlanan normal yaştan daha erken olarak büyümenin durması @@ -136667,9 +136667,9 @@ Selim, tekli veya çoklu kistik, odontojenik kökenli parakeratinize tabakalanmış skuamöz epitelyum ve agresif, infiltratif davranış potansiyelli kemik içi bir tümör en - A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour. + A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behavior. tr - OFFICIAL + CANDIDATE @@ -137404,9 +137404,9 @@ Nazal kavite anormalliği en - Abnormality of the nasal cavity + Abnormal nasal cavity morphology tr - OFFICIAL + CANDIDATE Burun delikleri ve koana arasını içine alan boşluk olan orta burun boşluğu anormalliği @@ -139245,9 +139245,9 @@ Göz kapağı derisinde yer alan nevüs flammeus en - Naevus flammeus localised in the skin of the eyelid. + Naevus flammeus localized in the skin of the eyelid. tr - OFFICIAL + CANDIDATE @@ -140987,7 +140987,7 @@ Bir kaç saniyeden dakikalar içinde sonlanan kas kasılmasında uzamış artış ile olan genel nöbetler en - A generalized tonic seizure is a type of generalized motor seizure characterised by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities. + A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities. tr CANDIDATE @@ -147108,9 +147108,9 @@ Serum sitokin düzeyi anormalliği en - Abnormality of serum cytokine level + Abnormal circulating cytokine concentration tr - OFFICIAL + CANDIDATE Bir sitokinin (yani, diğer hücrelerin davranışını etkileyen, inflamatuar lökositler ve bazı lökosit olmayan hücreler tarafından yapılan antikor olmayan proteinler) üretiminde veya hücresel salınımında bir anormallik @@ -147174,9 +147174,9 @@ Kemokin salınımı anormalliği en - Abnormality of chemokine secretion + Abnormal circulating chemokine concentration tr - OFFICIAL + CANDIDATE İnterferonların (bir sitokin sınıfı) üretiminde veya hücresel salınımında bir anormallik @@ -147187,18 +147187,18 @@ İnterferonların (bir sitokin sınıfı) üretiminde veya hücresel salınımında bir anormallik en - An abnormality in the production or cellular release of interferons (a class of cytokines). + The concentration of an interferon is outside the limits of normal. tr - OFFICIAL + CANDIDATE İnterferon salınımı anormalliği en - Abnormality of interferon secretion + Abnormal circulating interferon concentration tr - OFFICIAL + CANDIDATE İnterlökinlerin (bir sitokin sınıfı) üretiminde veya hücresel salınımında anormallik @@ -147209,18 +147209,18 @@ İnterlökinlerin (bir sitokin sınıfı) üretiminde veya hücresel salınımında anormallik en - An abnormality in the production or cellular release of interleukins (a class of cytokines). + The concentration of an interleukin (a class of cytokines) is outside the limits of normal. tr - OFFICIAL + CANDIDATE İnterlökin salınımı anormalliği en - Abnormality of interleukin secretion + Abnormal circulating interleukin concentration tr - OFFICIAL + CANDIDATE Tümör nekroz faktörün üretiminde veya hücresel salınımında bir anormallik @@ -147847,7 +147847,7 @@ Tipik absanslar ani başlangıçlı ve ani bitişli bilinç bozukluğunun saniyeler kadar kısa sürdüğü generalize epileptik nöbetlerdir en - A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event. + A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event. tr CANDIDATE @@ -147869,7 +147869,7 @@ Ek olarak göz kapağı myoklonisi ile karakterize absans nöbetleri en - An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterised by forced upward jerking of the eyelids during an absence seizure. + An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterized by forced upward jerking of the eyelids during an absence seizure. tr CANDIDATE @@ -147891,7 +147891,7 @@ Kolların ve omuzların EEG boşalımları ile senkronize olduğu, kolların ek tonik bileşenleri ile olan ek olarak ritmik bilateral myoklonus ile karakterize olan absans nöbetleri en - Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterised by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017. + Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterized by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017. tr CANDIDATE @@ -148045,7 +148045,7 @@ Bulantı, boşluk, sıkılık, çalkalama, kelebekler, bitkinlik, ağrı ve açlık dahil hissin göğüse veya boğaza yükselebildiği abdominal rahatsızlık ile olan auralar. Bazı fenomenler iktal otonomik disfonksiyonu yansıtabilir en - A type of focal autonomic seizure characterised by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature. + A type of focal autonomic seizure characterized by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature. tr CANDIDATE @@ -148133,7 +148133,7 @@ Işık çakması veya parlaması, noktalar, basit paternler, skotoma veya amorozis hisli auralar en - A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation. + A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation. tr CANDIDATE @@ -148211,7 +148211,7 @@ 2-3 döngü/saniye frekansta aynı kas gruplarını içeren düzenli tekrar eden myoklonuslu nöbetler en - Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups. + Generalized clonic seizure is a type of generalized motor seizure characterized by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups. tr CANDIDATE @@ -148343,7 +148343,7 @@ Uzamış, zorlanmış konjuge oküler, sefalik ve/veya trunkal rotasyon veya orta hattan lateral deviasyon ile olan tonik nöbetler en - A type of focal motor seizure characterised by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation. + A type of focal motor seizure characterized by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation. tr CANDIDATE @@ -152263,9 +152263,9 @@ Normal saç parıltısı (parlaklık veya ışıltı) eksik olan saç en - Hair that lacks the lustre (shine or gleam) of normal hair. + Hair that lacks the luster (shine or gleam) of normal hair. tr - OFFICIAL + CANDIDATE @@ -153305,9 +153305,9 @@ Doğumun ikinci evresi uygun şekilde ilerlemediği zaman doğumu asiste etmek için kullanılan bir vakum cihazı olan vantuz aracılığı ile yenidoğanın doğumu en - Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately. + Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labor has not progressed adequately. tr - OFFICIAL + CANDIDATE @@ -163239,9 +163239,9 @@ Doğumu takiben önemli maternal hemoraji/kan kaybı en - Significant maternal haemorrhage/blood loss following deilvery of a child. + Significant maternal hemorrhage/blood loss following deilvery of a child. tr - OFFICIAL + CANDIDATE @@ -164627,7 +164627,7 @@ Bağırsağın lenfoproliferatif anormalliği, nadiren çapı 0.5 cm'yi aşan çok sayıda görünür mukozal nodül ile karakterizedir Histolojik olarak, büyük germinal merkezli hiperplastik lenfoid folliküller, lamina propriada yüzeyel submukozada görülür. Folikül merkezlerinin hiperplazisi nedeniyle mukozal B hücreli folliküllerin genişlemesi söz konusudur; normal görünen bir manto bölgesi ile çevrili. Hastalık, mideyi, tüm ince bağırsakları ve kalın bağırsağı etkileyebilir en - A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine. + A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centers are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centers; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine. tr CANDIDATE @@ -166895,7 +166895,7 @@ Avuç içine, ayak tabanına veya tırnak altına yerleşen bir kutanöz melanom türü (subungual melanoma). Akral desenli melanom, yavaş yavaş büyüyen, renksiz bir cilt yassı leke olarak başlar ve genellikle kahverengi, mavi-gri, siyah ve kırmızı tonları içeren bir renk karışımı değişken pigmentasyon ve tanıya göre çapı 6 mm'nin üzerinde ve çoğunlukla birkaç santimetre veya daha fazla bir boyut gösterir. Lezyonun yüzeyi başlangıçta pürüzsüzdür, ancak ilerleyen kısımda daha kalın ve düzensiz olabilir ve ülsere dönüşebilir veya kanayabilir en - A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed. + A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discolored skin and usually displays a size above 6 mm and often several centimeters or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed. tr CANDIDATE @@ -168381,9 +168381,9 @@ Bazal gangliyada hücrelerin ölümleri en - Death of cells in the basal ganglia. + Death of cells in the basal ganglia. This finding can be confirmed by autopsy. It can be suspected with hyperintensities within the basal ganglia on FLAIR and T2-sequences on magnetic resonance imaging. tr - OFFICIAL + CANDIDATE @@ -176055,9 +176055,9 @@ Adipoz doku inflamasyonu en - Inflammation of adipose tissue. + Inflammation of subcutaneous adipose tissue. tr - OFFICIAL + CANDIDATE @@ -176649,7 +176649,7 @@ Anormal olarak azalmış miktarda katalaz aktivitesi en - An abnormally decreased amount of catalase level. + Activity or concentration of catalase in the blood circulation below the lower limit of normal. tr CANDIDATE @@ -176658,7 +176658,7 @@ Azalmış katalaz aktivitesi en - Reduced catalase level + Reduced circulating catalase activity tr CANDIDATE @@ -176847,9 +176847,9 @@ Platelet alfa granüllerinin yokluğu. Bu tipik olarak plateletlerin giemsa boyalı kan sürüntüsünde gri gözükmesi ile sonuçlanır en - A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears. + A lack of platelet alpha granules. This typically results in the gray appearance of platelets in giemsa stained blood smears. tr - OFFICIAL + CANDIDATE @@ -182713,7 +182713,7 @@ Optik disk çukurluğunun çapının diskin toplam çapına oranındaki yükselme. Optik diskte, nöroretinal doku içermeyen, soluk bir merkezi (çukurluğu) olan turuncu-pembe bir çerçeve bulunur. Bu orandaki artış, sağlıklı nöroretinal hücrelerin miktarında bir düşüş olduğunu gösterebilir en - An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells. + An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disk. The optic disc has an orange-pink rim with a pale center (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells. tr CANDIDATE @@ -185287,9 +185287,9 @@ Aynı gözün inferior rektus kasının ve superior oblik kasının eş zamanlı zayıflığı ile karakterize bir oküler hareket anormalliği en - An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye. + An ocular movement abnormality characterized by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye. tr - OFFICIAL + CANDIDATE @@ -185607,7 +185607,7 @@ Dolaşımda normal hemoglobin konsantrasyonu üstüne anormal bir yükselme en - An abnormal elevation above normal hemoglobin concentration in the circulation. + An abnormal elevation above normal hemoglobin concentration in the circulation tr OFFICIAL @@ -185616,9 +185616,9 @@ Artmış hemoglobin konsantrasyonu en - Increased hemoglobin concentration + obsolete Increased hemoglobin concentration tr - OFFICIAL + CANDIDATE Dolaşımda hacim başına eozinofillerin normal sayısından herhangi bir sapma @@ -187757,7 +187757,7 @@ Düzensiz hipopigmente maküller ile karakterize konjenital bir cilt lezyonu, plaklar oluşturmak için birleşir ve özellikle göğüs bölgesinde görülür. Genellikle doğumda ya da yaşamın ilk günlerinde gelişir. Kadınlarda daha sık görülür. Tanı, lezyona ve çevreleyen deriye hafif sürtünme uygulayarak ve sağlıklı deride üretilen eritemin hipopigmente lezyonda görünmediğini kontrol ederek teyit edilir. Bu soluk makül, lezyon ve çevresi ovulduğunda daha belirgin hale gelir. Küçük anemik noktalar adasından oluşan nevüsün marjı tam tanımlanmıştır en - A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anaemic spots. + A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anemic spots. tr CANDIDATE @@ -189407,7 +189407,7 @@ Üst göz kapağı kasılması ve dış veya iç pterigoid kasının kasılmasına bağlı unilateral pitozis. Beşinci kranyal sinir dalının levator kasını sağlayan üçüncü kranyal sinir dalına konjenital olarak hatalı bağlanması nedeniyle rastlandığı düşünülmektedir. Marcus Gunn çene göz kırpma sinkinezisinde, etkilenmiş göz kapağının yükselmesi ve hatta geri çekilmesi, çiğneme, emme, yanal mandibüla hareketi, gülümseme, sternokleidomastoyid kontraksiyon, çıkıntılı dilde, Valsalva manevrası ve hatta solunum yoluyla tetiklenir en - Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing. + Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva maneuver and even by breathing. tr CANDIDATE @@ -189451,7 +189451,7 @@ Meydana gelen ve hızla bilateral dağılımlı ağların içine giren generalize tonik-klonik bir nöbet tipi en - A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterised by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure. + A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterized by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure. tr CANDIDATE @@ -193567,9 +193567,9 @@ Yüksek çözünürlüklü bilgisayarlı tomografi (YÇBT) diğer modaliteler ile mümkün olmayan şekilde intersitisyel akciğer hastalıklarını karakterize eden bulguları ayırt edebilir en - High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities. + High-resolution computed tomography (HRCT) can distinguish findings that characterize characterize interstitial lung diseases in a way not possible with other modalities. tr - OFFICIAL + CANDIDATE @@ -193589,9 +193589,9 @@ Pulmoner interstisyel yüksek çözünürlüklü bilgisayarlı tomografide retiküler patern bir ağı andıran birbiri içine geçmiş sayısız gölge ile karakterizedir en - On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh. + On pulmonary high-resolution computed tomography, reticular pattern is characterized by innumerable interlacing shadows suggesting a mesh. tr - OFFICIAL + CANDIDATE @@ -193633,7 +193633,7 @@ Nodüler bir kalıp, pulmoner yüksek çözünürlüklü bilgisayarlı tomografide, çapı 3 mm'den küçük olarak tanımlanmış miktonodüllerle çapları 2 mm'den 1 cm'ye kadar sayısız yuvarlaklaştırılan opasitenin varlığı ile karakterizedir en - A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter. + A nodular pattern is characterized on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter. tr CANDIDATE @@ -196483,9 +196483,9 @@ Her bir vücut yarısında iki farklı vücut rengi ile sonuçlanan deri renginde ani bir değişimi içeren Harlequin fenomeni en - The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body. + The Harlequin phenomenon consists of a sudden change in skin color, resulting in two different body colors, one on each half of the body. tr - OFFICIAL + CANDIDATE @@ -196925,9 +196925,9 @@ Derin kortekste ışınsal olarak dağılan çomak şekilli ve nokta opasiteleri ile karakterize bir katarakt tipi. Bu lens opasiteleri bir tacı andıran görünümde nükleusu çevreler en - A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown. + A type of cataract characterized by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown. tr - OFFICIAL + CANDIDATE @@ -197101,7 +197101,7 @@ Retina pigment epitelyumunun (RPE) bir veya daha fazla odak lezyonunda ortanca olan ve genellikle yalnızca bir gözde sadece bulutlu görme ile bağlantısı olan nörosensor retinanın serumlu dekolmanı ile retinanın anomalisi tipik olarak hasta tarafından mikroskop ve metamorfopsinin bağlantılı olduğu görme alanının merkezinde karanlık bir nokta olarak görülür. Normal görüş, birkaç ay içinde sıklıkla kendiliğinden tekrar eder en - An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the centre of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months. + An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the center of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months. tr CANDIDATE @@ -197179,9 +197179,9 @@ Işıklandırılmış yılbaşı ağacı gibi parıldayan birden fazla muhteşem renkler gösteren bir katarakt tipi en - A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree. + A type of cataract that shows a spectacular display of multiple colors that glitters with the change of incident light like an illuminated Christmas tree. tr - OFFICIAL + CANDIDATE @@ -203784,7 +203784,7 @@ Anormal eritrosit enzim aktivitesi en - Abnormal erythrocyte enzyme level + Abnormal erythrocyte enzyme concentration or activity tr CANDIDATE @@ -204262,9 +204262,9 @@ Distal femoral metafizyal anormallik en - Distal femoral metaphyseal abnormality + Abnormal distal femoral metaphysis morphology tr - OFFICIAL + CANDIDATE Sadece 10 çift kaburga (olağan 12 yerine) varlığı @@ -204639,9 +204639,9 @@ İntervertebral disk boşluğunda bir artış olarak gözlemlenen, bitişik vertebral cisimler arasında vertikal mesafede bir artış en - An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space. + An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disk space. tr - OFFICIAL + CANDIDATE @@ -205299,7 +205299,7 @@ Kanda anormal interferon seviyeleri en - Abnormal levels of interferon in the blood. + Abnormal levels of interferon in the blood tr OFFICIAL @@ -205308,7 +205308,7 @@ Anormal serum interferon seviyesi en - Abnormal circulating interferon concentration + obsolete Abnormal circulating interferon concentration tr CANDIDATE @@ -207953,7 +207953,7 @@ Retina sinir lif tabakasının yoğun olduğu bölgelerede beyaz şişmelerin meydana geldiği lokalize bölgeleri temsil eden, maküla dokusu üzerindeki yumuşak ve beyaz bir lekedir. Genellikle iç yapısı zikzaklar, tüylü bir kenara sahiptir, ters yöne doğru iyi çizilmiş bir formdadır ve yaklaşık 1 mm boyuta sahiptirler; vitreusa hafifçe yansıyıp bazen retinal damarları saptırırlar en - Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. + Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fiber layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. tr CANDIDATE @@ -209797,9 +209797,9 @@ Retinal fenotip koni fotoreseptör disfonksiyonu ve korunmuş çubuk sistemi ile karakterizedir. Anormallik tipik olarak geçicidir veya çok yavaş olarak ilerler ve bulgular azalmış merkezi görme, renk görme anormallikleri, nistagmus ve fotofobi içerebilir en - Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia. + Retinal phenotype characterized by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, color vision abnormalities, nystagmus and photophobia. tr - OFFICIAL + CANDIDATE @@ -210239,7 +210239,7 @@ Rektus karın kasının alt kısmının zayıflığı klinik olarak aşağıdaki gibi tespit edilir. Hasta ayağa kalktığında veya dinlendiği pozisyondan kafasını kaldırdığında göbek deliği başa doğru yer değiştirir. Bu, rektus karın kasının alt kısmının felce uğramasının sonucudur, böylece göbek deliğini yukarı doğru çeken üst lifler baskın olur en - Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus. + Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibers predominate pulling upwards the umbilicus. tr CANDIDATE @@ -210569,7 +210569,7 @@ Kalp ve büyük damarlarının herhangi bir yapısal anomalisi en - Any structural anomaly of the heart and great vessels. + Any structural anomaly of the heart and blood vessels. tr CANDIDATE @@ -211077,9 +211077,9 @@ Bir bronşun proksimal segmentinin fokal obliterasyonu ile karakterize bir gelişimsel anomali. Bronşiyal patern stenoz kısmının distalinde tamamen normaldir en - A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis. + A developmental anomaly characterized by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis. tr - OFFICIAL + CANDIDATE @@ -212485,7 +212485,7 @@ Bir sitokin sınıfı olan herhangi interlökinin dolaşımdaki anormal bir miktarı en - An abnormal amount of any of the interleukins, a class of cytokines, in the circulation. + An abnormal amount of any of the interleukins, a class of cytokines, in the circulation tr OFFICIAL @@ -212494,7 +212494,7 @@ Anormal serum interlökin seviyesi en - Abnormal circulating interleukin concentration + obsolete Abnormal circulating interleukin concentration tr CANDIDATE @@ -218919,18 +218919,18 @@ Kanda azalmış inhibin B konsantrasyonu en - A reduced concentration of inhibin B in the blood. + The concentration of inhibin B in the blood circulation is below the lower limit of normal. tr - OFFICIAL + CANDIDATE Azalmış inhibin B seviyesi en - Decreased inhibin B level + Decreased circulating inhibin B concentration tr - OFFICIAL + CANDIDATE Folliküllerin granüloza hücreleri tarafından üretilen bir peptid olan, antimüller hormonun normal aralığındaki herhangi bir deviasyon. Müllerian inhibe edici madde olarak da bilinen anti-Müller hormon (AMH) yumurtalıktaki küçük antral foliküllerin granüloza hücreleri tarafından üretilir. AMH, folliküler areste katkıda bulunan, yumurtalıkta inhibe edici bir role sahiptir. Kadınlarda AMH düzeyleri 8 yaşına kadar düşüktür, ergenliğe kadar hızla yükselir ve 25 yaşından menopoz dönemine kadar, AMH üretimi durduğunda istikrarlı bir şekilde azalır @@ -219654,7 +219654,7 @@ Anormal B tipi natriüretik peptit seviyesi en - Abnormal B-type natriuretic peptide concentration + Abnormal circulating B-type natriuretic peptide concentration tr CANDIDATE @@ -220921,7 +220921,7 @@ Lipid damlacıkları içeren bir hücresiz ürinerin türü, oval yağlı vücutlar veya kolesterol kristalleri, ve sıklıkla bu öğelerin serbest biçimleri ile ilişkilidir. Onların kimliğini saptama polarize ışık mikroskopisinin kullanılmasını gerektirebilir, Malta haçı olarak döküm kalıba benzeyenin içine ki yağlı parçacıkları gömülenlerin altına en - A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses. + A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarized light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses. tr CANDIDATE @@ -229453,7 +229453,7 @@ Retinadaki yumuşak beyaz yama, retinal sinir lifi tabakasının yoğun beyaz şişmelerinin lokalize bölgelerini temsil eder. Çoğunlukla zikzak dahili yapıya sahiptirler, tüylü bir kenar ancak bunun dışında iyi betimlenmiş bir biçim ve yaklaşık olarak 1 mm boyut; vitreusa içine hafifçe yansırlar ve bazen retinal damarları saptırırlar en - Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. + Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fiber layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. tr CANDIDATE @@ -230743,7 +230743,7 @@ Tipik bir atriyal çarpıntı organize bir atriyal taşikardidir. Ayrıca, sağ atriyumla sınırlanmış makro-aday taşikardi olarak da tanımlanabilir. Bu aritmi, hastanın önceki tedavisine veya ablasyonuna, konjenital kalp hastalığına vb. bağlı olarak dalgalanma gösterebilir; ancak, 200-260 ms dönem uzunluğuna sahiptir. Ventriküler hız cevabı atriyal çarpıntı sırasında genellikle 2:1 veya 3:1 olan atriyoventriküler düğüm iletkenleri ile sınırlandırılacaktır. Tipik (saat yönünün tersine) çarpıntı, ortak çarpıntı modeliyle ilişkilidir: İnferior lead II, III ve aVF'de dominant negatif sapmalar gösteren düzenli sürekli bir dalgalanma, çoğunlukla bir testere dişi modeli olarak tanımlanır ve düz atriyal sapmalar I ve aVL'ye sebep olur. V1'deki atriyal defleksiyonlar pozitif, bifazik veya negatif olabilir en - Typical atrial flutter is an organised atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative. + Typical atrial flutter is an organized atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative. tr CANDIDATE @@ -233563,9 +233563,9 @@ Nöroduyusal retina içinde meydana gelen bir fundus hemorajisi alt tipi. İntraretinal hemorajiler retina içindeki derinliklerine bağlı olarak 'nokta' veya 'leke' şekilli veya alev şekilli olabilir en - A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal haemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina. + A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal hemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina. tr - OFFICIAL + CANDIDATE @@ -236061,9 +236061,9 @@ Oküler fluter tekrarlayan, düzensiz, salınımlar arası aralık olmadan olan yatay salınımların istemsiz patlamalarından oluşan anormal bir göz hareketidir. Genellikle normal okülomotor davranış üzerine binen ve meydana gelişi göz kırpması, normal salınımların tetiklenmesi veya optokinetik uyarı gibi çeşitli olaylar tarafından mümkün olabilir en - Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behaviour and its occurrence may be favoured by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation. + Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behavior and its occurrence may be favored by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation. tr - OFFICIAL + CANDIDATE @@ -236909,9 +236909,9 @@ Optik sinir baş çukurunun yüksekliğinin disk yüksekliğine oranında anormal bir artış en - An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc. + An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disk. tr - OFFICIAL + CANDIDATE @@ -236931,7 +236931,7 @@ Optik sinir baş çukur yüksekliğinin disk yüksekliğine oranı 0.6'dır (normal çukur disk oranı 0.3'tür) en - Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.6 (The normal cup-to-disc ratio is 0.3). + Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.6 (The normal cup-to-disc ratio is 0.3). tr CANDIDATE @@ -236953,9 +236953,9 @@ Optik sinir baş çukur yüksekliğinin disk yüksekliğine oranı 0.7'dir (normal çukur disk oranı 0.3'tür) en - Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.7 (The normal cup-to-disc ratio is 0.3). + Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.7 (The normal cup-to-disc ratio is 0.3). tr - OFFICIAL + CANDIDATE @@ -236975,9 +236975,9 @@ Optik sinir baş çukur yüksekliğinin disk yüksekliğine oranı 0.8'dir (normal çukur disk oranı 0.3'tür) en - Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3). + Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.8 (The normal cup-to-disc ratio is 0.3). tr - OFFICIAL + CANDIDATE @@ -236997,9 +236997,9 @@ Optik sinir baş çukur yüksekliğinin disk yüksekliğine oranı 0.9'dir (normal çukur disk oranı 0.3'tür) en - Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.9 (The normal cup-to-disc ratio is 0.3). + Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.9 (The normal cup-to-disc ratio is 0.3). tr - OFFICIAL + CANDIDATE @@ -237019,9 +237019,9 @@ Optik sinir baş çukur yüksekliğinin disk yüksekliğine oranı 1.0'dir (normal çukur disk oranı 0.3'tür) en - Ratio of the height of the cup of the optic nerve head to the height of the disc is 1.0 (The normal cup-to-disc ratio is 0.3). + Ratio of the height of the cup of the optic nerve head to the height of the disk is 1.0 (The normal cup-to-disc ratio is 0.3). tr - OFFICIAL + CANDIDATE @@ -238031,7 +238031,7 @@ Ana olarak hepatositler tarafından sentezlenen ve kan akımının içine salgılanan 52-kDa bir glikoprotein olan alfa-1 antitripsininin azalmış dolaşım konsantrasyonu. Alfa-1 antitripsin akciğerlerde proteaz-antiproteaz homeostazini sürdürmede kritik olan bir serin-proteinaz inhibitörüdür en - A reduced concentration or activity of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs. + A reduced concentration or activity of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesized and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs. tr CANDIDATE @@ -238075,9 +238075,9 @@ Retinada iyi tanımlı/ayırt edilebilen, bireysel ve çoğunlukla tek tip boyutta olan sarı, beyaz veya grimsi lezyonlar en - Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size. + Yellow, white or grayish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size. tr - OFFICIAL + CANDIDATE @@ -238097,9 +238097,9 @@ Makülada iyi tanımlı/ayırt edilebilen, bireysel ve çoğunlukla tek tip boyutta olan sarı, beyaz veya grimsi lezyonlar en - Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size. + Yellow, white or grayish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size. tr - OFFICIAL + CANDIDATE @@ -238141,9 +238141,9 @@ Tarsal plağın lateral tarafını zigomatik kemiğe stabilize eden tendonun gevşekliği. Bu lateral kantusun yuvarlak görünümü ile sonuçlanabilir. Ayrıca, göz kapağı mediyal olarak çekildiğinde kantal açının 2 mm'den fazla hareketi gözlemlenebilir en - Laxity of the tendon stabilising the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed. + Laxity of the tendon stabilizing the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed. tr - OFFICIAL + CANDIDATE @@ -238163,9 +238163,9 @@ Tarsal plağın mediyal tarafını anterior ve posterior lakrimal kabartılara stabilize eden tendon gevşekliği. Bu, göz kapağı lateral olarak çekildiğinde punktumun 2 mm'den fazla hareketine yol açabilir en - Laxity of the tendon stabilising the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally. + Laxity of the tendon stabilizing the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally. tr - OFFICIAL + CANDIDATE @@ -238207,9 +238207,9 @@ Esas olarak dikey düzlemde doku gevşemesi ile ilişkili anormal olarak gevşek göz kapağı. Dikey göz kapağı çekmesi ile ispat edilebilir. Dikey stabilize edici yapılar (örneğin alt göz kapağı retraktörleri) veya tarsal atrofi sıklıkla mevcuttur en - Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilising structures (e.g. lower lid retractors) or tarsal atrophy are often present. + Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilizing structures (e.g. lower lid retractors) or tarsal atrophy are often present. tr - OFFICIAL + CANDIDATE @@ -238647,7 +238647,7 @@ Hipokampal sklerozisli hastalarda (HS, sinonim Ammon'un boynuz sklerozu) mimari organizasyonda (kortikal dislaminasyon) veya hücresel mimari bileşimde (Katman 5'in dışında hipertrofik nöronlar) değişimler ile karakterize bir fokal kortikal displazi tip III alt tipi en - A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organisation (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis). + A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organization (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis). tr CANDIDATE @@ -240983,9 +240983,9 @@ Varisella zoster virüsü (VZV) enfeksiyonunun olağan dışı ciddi bir formu. Çoğu vakada, özellikle çocuklarda varisella deri lezyonları, düşük dereceli ateş ve halsizlik ile karakterize çok hafif bir enfeksiyondur. Ciddi enfeksiyon VZV pnömonisi, hepatit, menenjit ve yaygın varisella dahil bulgular ile karakterizedir en - An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterised by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella. + An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterized by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella. tr - OFFICIAL + CANDIDATE @@ -241665,9 +241665,9 @@ Vulvar intraepitelyal neoplazi (VIN) geniş olarak vulvar skuamöz hücre karsinomunun (VSHK) prekursör lezyonu olarak kabul edilmektedir. VSHK ya human papilloma virüsü (HPV) ilişkili yolak aracılığı ile ya da daha sık olarak HPV'den bağımsız bir mekanizma aracılığıyla liken sklerozus (LS) gibi sıklıkla kronik inflamatuvar durumlara bağlıdır. Uygun olarak, iki ayrı VIN alt tipi tanımlanmıştır: HPV-ilişkili yüksek dereeli skuamöz intraepitelyal lezyon/olağan VIN (HSIL/uVIN) ve HPV-ilişkili olmayan farklılaşmış VIN (dVIN). HSIL klinik olarak çoklu, siğil benzeri görünümü ve histolojide dikkat çekici sitolojik ve yapısal atipi ile tanımlanır. Farklılaşmış VIN, diğer yandan sıklıkla hastalıklı lezyonlar üretir ve histolojide herkesin bildiği gibi neoplastik olmayan epitelyal hastalığı (NNED), özellikle LS'yi taklit eder. Sonuç olarak dVIN, VSHK'nın çoğunluk prekürsör lezyonu olmasına rağmen invazif maliganansinin tanısından önce nadiren tanımlanır en - Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognised: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC. + Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognized: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC. tr - OFFICIAL + CANDIDATE @@ -243119,7 +243119,7 @@ İdrarda artmış N-asetilaspartik asit (NAA). Bu özellik gaz kromotografisi kütle spektrometresi kullanılarak ölçülebilir en - Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry. + Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry tr OFFICIAL @@ -243128,9 +243128,9 @@ Artmış idrar N-asetilaspartik asit seviyesi en - Elevated urinary N-acetylaspartic acid level + obsolete Elevated urinary N-acetylaspartic acid level tr - OFFICIAL + CANDIDATE Kan dolaşımında anormal olarak artmış N-asetilaspartik asit konsantrasyonu @@ -243982,9 +243982,9 @@ Burun kılı anormalliği en - Abnormality of nasal hair + Abnormal nasal hair morphology tr - OFFICIAL + CANDIDATE Kaburgaların kalsifikasyonu @@ -244788,9 +244788,9 @@ Anormal serum demiri en - Abnormal serum iron concentration + Abnormal circulating iron concentration tr - OFFICIAL + CANDIDATE Anormal motor sinir iletimi hızı @@ -244971,7 +244971,7 @@ 5-okso-L-prolin + ATP + 2 H(2)O = L-glutamat + ADP + 2 H(+) + fosfat reaksiyonunun azalmış aktivitesi en - Decreased level of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate. + Activity or concentration of 5-oxoprolinase in the blood circulation below the lower limit of normal. This enzyme catalyzes the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate. tr CANDIDATE @@ -244980,7 +244980,7 @@ 5-okzoprolinaz eksikliği en - Reduced 5-oxoprolinase level + Reduced circulating 5-oxoprolinase activity tr CANDIDATE @@ -247702,9 +247702,9 @@ Azalmış serum demiri en - Decreased serum iron + Decreased circulating iron concentration tr - OFFICIAL + CANDIDATE Sella tursikanın duplikasyonu @@ -249705,9 +249705,9 @@ Beyin felci, gelişmekte olan fetüs veya bebek beyninde meydana gelen ilerlemeyen bozukluklara atfedilen, hareket ve duruşun gelişmesindeki kalıcı bozuklukların bir grubunu, aktivite sınırlamasına neden olarak tanımlar. Beyin felcinin motor bozukluklarına, genellikle duyumsama, algılama, biliş, iletişim ve davranış bozuklukları, epilepsi ve ikincil kas-iskelet problemleri eşlik eder en - Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems. + Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems. tr - OFFICIAL + CANDIDATE @@ -252779,9 +252779,9 @@ Ciltte yüzeysel bir lezyon olarak görülen ektopik solunum yolu epiteli, genellikle önkol derisinde tek taraflı lokalizasyonu gösterir ve aynı taraftaki el kusurları ile ilişkilidir en - Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations. + Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localized unilateral in the skin of the forearm and associated with ipsilateral hand malformations. tr - OFFICIAL + CANDIDATE @@ -253425,9 +253425,9 @@ Tat duyusu ile göz yaşı salgılanması normalde submandibüler gangliyon için gönderilen yedinci kafa sinir liflerinin pterigopalantin gangliyona gittiği atipik uyarılmadan kaynaklanmaktadır. Bu atipik uyarım yerken veya yemek beklerken kontrolsüz göz yaşarmasına yol açmaktadır en - Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal. + Gustatory lacrimation results from an aberrant innervation of fibers from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal. tr - OFFICIAL + CANDIDATE @@ -254321,9 +254321,9 @@ Duyarlılık oluşturan antijenlere yeniden maruziyeti takiben bağışıklık sisteminin zararlı yanıtlar ürettiği immünolojik durumlar en - Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens. + Immunological states where the immune system produces harmful responses upon reexposure to sensitizing antigens. tr - OFFICIAL + CANDIDATE @@ -260689,9 +260689,9 @@ Periosteumu kemiğe bağlayan güçlü kolajen lif demetlerinden oluşan bağ dokusunun bir matrisi olan Sharpey liflerinin (kemik lifleri veya delici lifler) bir anormalliği en - An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone. + An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibers connecting periosteum to bone. tr - OFFICIAL + CANDIDATE @@ -263229,7 +263229,7 @@ Normalde şeffaf olan gözün vitröz mizahındaki çeşitli boyut, şekil, tutarlılık, kırılma indeksi ve hareketliliğin biriktirilmesi en - Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent. + Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humor, which is normally transparent. tr CANDIDATE @@ -265522,9 +265522,9 @@ Utangaçlık en - Shyness + Excessive shyness tr - OFFICIAL + CANDIDATE Hiperestezi @@ -269757,7 +269757,7 @@ UDP-glukoz = UDP-galaktoz reaksiyonunu katalizleyen bir enzim olan üridin difosfat glukoz-4-epimeraz aktivitesinde bir anormallik en - An abnormality in uridine diphosphate glucose-4-epimerase level, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose. + An abnormality in uridine diphosphate glucose-4-epimerase level, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose tr CANDIDATE @@ -269766,7 +269766,7 @@ Anormal üridin difosfat glukoz-4-epimeraz aktivitesi en - Abnormal uridine diphosphate glucose-4-epimerase level + obsolete Abnormal uridine diphosphate glucose-4-epimerase level tr CANDIDATE @@ -269788,7 +269788,7 @@ Plazmada anormal üridin difosfat glukoz-4-epimeraz aktivitesi en - Abnormal uridine diphosphate glucose-4-epimerase level in plasma + Abnormal circulating UDP glucose-4-epimerase concentration tr CANDIDATE @@ -269810,7 +269810,7 @@ Plazmada artmış üridin difosfat glukoz-4-epimeraz aktivitesi en - Increased uridine diphosphate glucose-4-epimerase level in plasma + Increased circulating UDP glucose-4-epimerase concentration tr CANDIDATE @@ -269832,7 +269832,7 @@ Plazmada azalmış üridin difosfat glukoz-4-epimeraz aktivitesi en - Decreased uridine diphosphate glucose-4-epimerase level in plasma + Decreased circulating UDP glucose-4-epimerase concentration tr CANDIDATE @@ -269854,7 +269854,7 @@ Kırmızı kan hücrelerinde anormal üridin difosfat glukoz-4-epimeraz aktivitesi en - Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells + Abnormal erythrocyte UDP glucose-4-epimerase concentration tr CANDIDATE @@ -269876,7 +269876,7 @@ Kırmızı kan hücrelerinde artmış üridin difosfat glukoz-4-epimeraz aktivitesi en - Increased uridine diphosphate glucose-4-epimerase level in red blood cells + Increased erythrocyte UDP glucose-4-epimerase concentration tr CANDIDATE @@ -269898,7 +269898,7 @@ Kırmızı kan hücrelerinde azalmış üridin difosfat glukoz-4-epimeraz aktivitesi en - Decreased uridine diphosphate glucose-4-epimerase level in red blood cells + Decreased erythrocyte UDP glucose-4-epimerase concentration tr CANDIDATE @@ -274159,9 +274159,9 @@ Yağ dokusu ve yoğun bağ dokusundan oluşan konjonktival bir lezyon. Dermal bileşenlerin bu koristomaları normal olarak dış kantusta bulunur ve jelatinimsi bir görünüme sahiptir. Klasik olarak belirsiz posterior sınır (sıkça göz çukuru içine uzanan lezyon ile) ve limbus posterioruna bir kaç milimetre mesafede iyi sınırlı anterior sınır vardır en - A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus. + A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimeters posterior to the limbus. tr - OFFICIAL + CANDIDATE @@ -274379,9 +274379,9 @@ Ortak olarak inferotemporal veya temporal nöroretinal sınır alanları boyunca gözüken disk sınırları içinde arduvaz grisi karakteristik bir pigmentasyon alan görünümüne sahip olan en - Having a characteristic appearance of a slate gray area of pigmentation within the disc margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas. + Having a characteristic appearance of a slate gray area of pigmentation within the disk margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas. tr - OFFICIAL + CANDIDATE @@ -274489,9 +274489,9 @@ Genellikle çocuklukta kendini gösteren lenf damarlarının bir hamartomu. Baş aşağı duruş ve Valsalva manevrası ile boyutta artış gösterme eğilimindedir. Yüzeysel lezyonlar göz kapağının veya konjunktivanın arkadan ışık ile aydınlanabilecek, kan da içerebilen kistik boşluklar olarak görünür. Derin lezyonlar kademeli propitozise neden olabilir veya akut olarak orbital ağrı ve hemorajiye bağlı olarak azalmış görüş ile kendini gösterir en - A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva manoeuvre. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to haemorrhage. + A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva maneuver. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to hemorrhage. tr - OFFICIAL + CANDIDATE @@ -275941,18 +275941,18 @@ Frontalis kas karnının bir anormalliği en - An abnormality of a frontalis muscle belly. + Abnormal function of the frontalis muscle, which covers parts of the forehead and is responsible for raising the eyebrows. tr - OFFICIAL + CANDIDATE Frontalis kas karnının anormalliği en - Abnormality of frontalis muscle belly + Abnormal frontalis muscle physiology tr - OFFICIAL + CANDIDATE Masseter kasının bir anormalliği diff --git a/src/translations/hp-tw.babelon.owl b/src/translations/hp-tw.babelon.owl index 01ac6b1a2..1a21ad58d 100644 --- a/src/translations/hp-tw.babelon.owl +++ b/src/translations/hp-tw.babelon.owl @@ -9,8 +9,8 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:babelon="https://w3id.org/babelon/"> - - 2024-03-06 + + 2024-04-03 diff --git a/src/translations/hp-zh-changed.babelon.tsv b/src/translations/hp-zh-changed.babelon.tsv index c50c60bf2..a312d1a4c 100644 --- a/src/translations/hp-zh-changed.babelon.tsv +++ b/src/translations/hp-zh-changed.babelon.tsv @@ -10,6 +10,7 @@ en zh HP:0000202 rdfs:label Oral cleft 口裂 OFFICIAL en zh HP:0000264 rdfs:label Abnormality of the mastoid 乳突异常 OFFICIAL en zh HP:0000326 rdfs:label Abnormality of the maxilla 上颌骨异常 OFFICIAL en zh HP:0000372 rdfs:label Abnormality of the auditory canal 耳道异常 OFFICIAL +en zh HP:0000415 rdfs:label Abnormality of the choanae 鼻后孔的异常 OFFICIAL en zh HP:0000419 rdfs:label Abnormality of the nasal septum 鼻中隔异常 OFFICIAL en zh HP:0000429 rdfs:label Abnormality of the nasal alae 鼻翼异常 OFFICIAL en zh HP:0000436 rdfs:label Abnormality of the nasal tip 鼻尖异常 OFFICIAL @@ -17,7 +18,6 @@ en zh HP:0000587 rdfs:label Abnormality of the optic nerve 视神经异常 OFFIC en zh HP:0000708 rdfs:label Behavioral abnormality 行为异常 OFFICIAL en zh HP:0000722 rdfs:label Obsessive-compulsive behavior 强迫行为 OFFICIAL en zh HP:0000732 rdfs:label Inflexible adherence to routines or rituals 恪守程序或习惯 OFFICIAL -en zh HP:0000733 rdfs:label Motor stereotypy 运动刻板 OFFICIAL en zh HP:0000735 rdfs:label Impaired social interactions 社会交往障碍 OFFICIAL en zh HP:0000746 rdfs:label Delusions 妄想 OFFICIAL en zh HP:0000777 rdfs:label Abnormality of the thymus 胸腺异常 OFFICIAL @@ -40,6 +40,7 @@ en zh HP:0001611 rdfs:label Nasal speech 鼻音 OFFICIAL en zh HP:0001751 rdfs:label Vestibular dysfunction 前庭功能障碍 OFFICIAL en zh HP:0001780 rdfs:label Abnormality of toe 脚趾异常 OFFICIAL en zh HP:0001844 rdfs:label Abnormality of the hallux 拇趾异常 OFFICIAL +en zh HP:0001900 rdfs:label Increased hemoglobin 血红蛋白增多 OFFICIAL en zh HP:0002006 rdfs:label Facial cleft 面裂 OFFICIAL en zh HP:0002062 rdfs:label Morphological abnormality of the pyramidal tract 锥体束的形态异常 OFFICIAL en zh HP:0002143 rdfs:label Abnormality of the spinal cord 脊髓异常 OFFICIAL @@ -56,6 +57,7 @@ en zh HP:0002585 rdfs:label Abnormality of the peritoneum 腹膜异常 OFFICIAL en zh HP:0002686 rdfs:label Prenatal maternal abnormality 产前母体异常 OFFICIAL en zh HP:0002693 rdfs:label Abnormality of the skull base 颅底异常 OFFICIAL en zh HP:0002733 rdfs:label Abnormality of the lymph nodes 淋巴结异常 OFFICIAL +en zh HP:0002744 rdfs:label Bilateral cleft lip and palate 双侧唇腭裂 OFFICIAL en zh HP:0002761 rdfs:label Generalized joint laxity 周身关节松弛 OFFICIAL en zh HP:0002813 rdfs:label Abnormality of limb bone morphology 四肢骨骼形态异常 OFFICIAL en zh HP:0002823 rdfs:label Abnormality of femur morphology 股骨形态异常 OFFICIAL @@ -74,7 +76,9 @@ en zh HP:0003234 rdfs:label Decreased plasma carnitine 血浆肉碱降低 OFFICI en zh HP:0003262 rdfs:label Smooth muscle antibody positivity 平滑肌抗体阳性 OFFICIAL en zh HP:0003310 rdfs:label Abnormality of the odontoid process 齿状突异常 OFFICIAL en zh HP:0003345 rdfs:label Elevated urinary norepinephrine 尿去甲肾上腺素浓度增高 OFFICIAL +en zh HP:0003452 rdfs:label Increased serum iron 血清铁离子增高 OFFICIAL en zh HP:0003528 rdfs:label Elevated calcitonin 降钙素升高 OFFICIAL +en zh HP:0003637 rdfs:label Reduced 4-Hydroxyphenylpyruvate dioxygenase level 4-羟基苯丙酮酸双加氧酶活性降低 OFFICIAL en zh HP:0003639 rdfs:label Elevated urinary epinephrine 尿肾上腺素增高 OFFICIAL en zh HP:0003657 rdfs:label Granular osmiophilic deposits (GROD) in cells 胞内嗜锇颗粒沉积 OFFICIAL en zh HP:0003683 rdfs:label Large beaked nose 大喙鼻 OFFICIAL @@ -84,6 +88,7 @@ en zh HP:0003839 rdfs:label Abnormality of upper limb epiphysis morphology 上 en zh HP:0004361 rdfs:label Abnormality of circulating leptin level 血瘦素水平异常 OFFICIAL en zh HP:0004362 rdfs:label Abnormality of enteric ganglion morphology 肠神经节形态异常 OFFICIAL en zh HP:0004372 rdfs:label Reduced consciousness/confusion 意识减弱/意识错乱 OFFICIAL +en zh HP:0004431 rdfs:label Complement deficiency 补体缺陷 OFFICIAL en zh HP:0004434 rdfs:label Decreased serum complement C8 血清补体C8降低 OFFICIAL en zh HP:0004466 rdfs:label Prolonged brainstem auditory evoked potentials 脑干听觉诱发电位延长 OFFICIAL en zh HP:0004495 rdfs:label Thin anteverted nares 薄而前仰的鼻孔 OFFICIAL @@ -93,6 +98,7 @@ en zh HP:0005072 rdfs:label Hyperextensibility at wrists 手腕背伸过度 OFFI en zh HP:0005186 rdfs:label Synovial hypertrophy 滑膜肥厚 OFFICIAL en zh HP:0005262 rdfs:label Abnormality of the synovia 滑膜异常 OFFICIAL en zh HP:0005288 rdfs:label Abnormality of the nares 鼻孔异常 OFFICIAL +en zh HP:0005289 rdfs:label Abnormality of the nasolabial region 鼻唇区异常 OFFICIAL en zh HP:0005356 rdfs:label Decreased serum complement factor I 血清补体因子I减少 OFFICIAL en zh HP:0005369 rdfs:label Decreased serum complement factor H 血清补体因子H减少 OFFICIAL en zh HP:0005416 rdfs:label Decreased serum complement factor B 血清补体因子B降低 OFFICIAL @@ -105,6 +111,8 @@ en zh HP:0006143 rdfs:label Abnormal finger flexion creases 手指屈曲褶痕 en zh HP:0006153 rdfs:label Disharmonious carpal bone 腕骨不契合 OFFICIAL en zh HP:0006254 rdfs:label Elevated alpha-fetoprotein α-甲胎蛋白升高 OFFICIAL en zh HP:0006344 rdfs:label Abnormality of primary molar morphology 乳臼齿形态异常 OFFICIAL +en zh HP:0006417 rdfs:label Broad femoral metaphyses 股骨干骺端变宽 OFFICIAL +en zh HP:0006431 rdfs:label Proximal femoral metaphyseal abnormality 股骨近端干骺端异常 OFFICIAL en zh HP:0006477 rdfs:label Abnormality of the alveolar ridges 牙槽嵴异常 OFFICIAL en zh HP:0006482 rdfs:label Abnormality of dental morphology 牙齿形态异常 OFFICIAL en zh HP:0006499 rdfs:label Abnormality of femoral epiphysis 股骨骨骺异常 OFFICIAL @@ -127,8 +135,12 @@ en zh HP:0008326 rdfs:label Reduced circulating vitamin B6 level 维生素B6缺 en zh HP:0008344 rdfs:label Elevated plasma branched chain amino acids 血浆支链氨基酸水平升高 OFFICIAL en zh HP:0008372 rdfs:label Abnormality of vitamin A metabolism 维生素A代谢异常 OFFICIAL en zh HP:0008376 rdfs:label Nasal, dysarthic speech 鼻，构音障碍 OFFICIAL +en zh HP:0008419 rdfs:label Intervertebral disc degeneration 椎间盘退行性变 OFFICIAL +en zh HP:0008498 rdfs:label No permanent dentition 无恒牙 OFFICIAL +en zh HP:0008501 rdfs:label Median cleft lip and palate 唇腭正中裂 OFFICIAL en zh HP:0008572 rdfs:label External ear malformation 外耳畸形 OFFICIAL en zh HP:0008609 rdfs:label Morphological abnormality of the middle ear 中耳形态异常 OFFICIAL +en zh HP:0008635 rdfs:label Hypertrophy of the urinary bladder 膀胱肥大 OFFICIAL en zh HP:0008636 rdfs:label Lobular glomerulopathy 小叶性肾小球肾炎 OFFICIAL en zh HP:0008765 rdfs:label Auditory hallucinations 幻听 OFFICIAL en zh HP:0008768 rdfs:label Inappropriate sexual behavior 不适宜的性行为 OFFICIAL @@ -137,11 +149,13 @@ en zh HP:0008822 rdfs:label Hypoplastic ischiopubic rami 坐骨支发育不良 O en zh HP:0008823 rdfs:label Hypoplastic inferior pubic rami 下耻骨支发育不良 OFFICIAL en zh HP:0008830 rdfs:label Hypoplastic pubic rami 耻骨支发育不良 OFFICIAL en zh HP:0009380 rdfs:label Aplasia of the fingers 手指发育不全 OFFICIAL +en zh HP:0009595 rdfs:label Occasional neurofibromas 偶发的神经纤维瘤 OFFICIAL en zh HP:0009600 rdfs:label Flexion contracture of thumb 拇指屈曲挛缩 OFFICIAL en zh HP:0009624 rdfs:label Contractures of the carpometacarpal joint of the thumb 拇指腕掌关节挛缩 OFFICIAL en zh HP:0009625 rdfs:label Contractures of the metacarpophalangeal joint of the thumb 拇指掌指关节挛缩 OFFICIAL en zh HP:0009626 rdfs:label Contractures of the interphalangeal joint of the thumb 拇指指间关节挛缩 OFFICIAL en zh HP:0009735 rdfs:label Spinal neurofibromas 脊髓神经纤维瘤 OFFICIAL +en zh HP:0009922 rdfs:label Vascular remnant arising from the disc 玻璃体动脉续存症 OFFICIAL en zh HP:0009929 rdfs:label Abnormality of the columella 鼻小柱异常 OFFICIAL en zh HP:0010160 rdfs:label Abnormality of the epiphyses of the toes 趾骨骨骺异常 OFFICIAL en zh HP:0010161 rdfs:label Abnormality of the phalanges of the toes 趾骨异常 OFFICIAL @@ -154,8 +168,10 @@ en zh HP:0010524 rdfs:label Agnosia 失认 OFFICIAL en zh HP:0010527 rdfs:label Astereognosia 实体觉缺失 OFFICIAL en zh HP:0010569 rdfs:label Elevated 7-dehydrocholesterol 7-脱氢胆固醇水平升高 OFFICIAL en zh HP:0010571 rdfs:label Elevated levels of phytanic acid 植烷酸水平升高 OFFICIAL +en zh HP:0010587 rdfs:label Triangular epiphyses 三角形骨骺 OFFICIAL en zh HP:0010593 rdfs:label Abnormality of fibular epiphyses 腓骨骨骺异常 OFFICIAL en zh HP:0010630 rdfs:label Abnormality of metatarsal epiphysis 跖骨骨骺异常 OFFICIAL +en zh HP:0010640 rdfs:label Abnormality of the nasal cavity 鼻腔异常 OFFICIAL en zh HP:0010663 rdfs:label Abnormality of thalamus morphology 丘脑形态异常 OFFICIAL en zh HP:0010674 rdfs:label Abnormality of the curvature of the vertebral column 脊柱曲度异常 OFFICIAL en zh HP:0010790 rdfs:label Hyoplasia of the Leydig cells 睾丸间质细胞发育不全 OFFICIAL @@ -167,6 +183,10 @@ en zh HP:0010962 rdfs:label Extralobar sequestration 叶外型肺隔离症 OFFIC en zh HP:0011021 rdfs:label Abnormality of circulating enzyme level 循环系统内酶浓度水平异常 OFFICIAL en zh HP:0011071 rdfs:label Abnormality of permanent molar morphology 恒大臼齿形态异常 OFFICIAL en zh HP:0011111 rdfs:label Abnormality of immune serum protein physiology 血清免疫蛋白功能异常 OFFICIAL +en zh HP:0011112 rdfs:label Abnormality of serum cytokine level 血清细胞因子水平异常 OFFICIAL +en zh HP:0011115 rdfs:label Abnormality of chemokine secretion 趋化因子分泌异常 OFFICIAL +en zh HP:0011116 rdfs:label Abnormality of interferon secretion 干扰素分泌异常 OFFICIAL +en zh HP:0011117 rdfs:label Abnormality of interleukin secretion 白介素分泌异常 OFFICIAL en zh HP:0011119 rdfs:label Abnormality of the nasal dorsum 鼻嵴异常 OFFICIAL en zh HP:0011121 rdfs:label Abnormality of skin morphology 皮肤形态异常 OFFICIAL en zh HP:0011138 rdfs:label Abnormality of skin adnexa morphology 皮肤附属器的异常 OFFICIAL @@ -197,6 +217,7 @@ en zh HP:0012400 rdfs:label Abnormal aldolase level 醛缩酶水平异常 OFFICI en zh HP:0012434 rdfs:label Delayed social development 社交发育迟缓 OFFICIAL en zh HP:0012443 rdfs:label Abnormality of brain morphology 脑形态学异常 OFFICIAL en zh HP:0012503 rdfs:label Abnormality of the pituitary gland 垂体异常 OFFICIAL +en zh HP:0012517 rdfs:label Reduced catalase level 过氧化氢酶活性降低 OFFICIAL en zh HP:0012544 rdfs:label Elevated aldolase level 醛缩酶水平升高 OFFICIAL en zh HP:0012545 rdfs:label Reduced aldolase level 醛缩酶水平降低 OFFICIAL en zh HP:0012655 rdfs:label Elevated CSF dopamine level 脑脊液多巴胺水平增加 OFFICIAL @@ -204,12 +225,15 @@ en zh HP:0012656 rdfs:label Reduced CSF dopamine level 脑脊液多巴胺水平 en zh HP:0012718 rdfs:label Morphological abnormality of the gastrointestinal tract 胃肠道形态异常 OFFICIAL en zh HP:0012760 rdfs:label Impaired social reciprocity 社会交互作用障碍 OFFICIAL en zh HP:0012808 rdfs:label Abnormal nasal base 鼻基异常 OFFICIAL +en zh HP:0020063 rdfs:label Increased hemoglobin concentration 血红蛋白浓度增高 OFFICIAL en zh HP:0020150 rdfs:label Elevated urinary uromodulin 尿调节蛋白升高 OFFICIAL en zh HP:0020152 rdfs:label Distal joint laxity 远端关节松弛 OFFICIAL +en zh HP:0020175 rdfs:label Reduced cholinesterase level 胆碱酯酶水平降低 OFFICIAL en zh HP:0020179 rdfs:label Abnormal haptoglobin level 结合珠蛋白水平异常 OFFICIAL en zh HP:0020182 rdfs:label Abnormal A-type atrial natriuretic peptide level A型心钠素水平异常 OFFICIAL en zh HP:0020183 rdfs:label Increased circulating A-type natriuretic peptide level 血液A型尿利钠肽水平升高 OFFICIAL en zh HP:0020184 rdfs:label Decreased circulating A-type natriuretic peptide level 血液A型尿利钠肽水平降低 OFFICIAL +en zh HP:0020202 rdfs:label Abnormal Z disc morphology Z盘形态异常 OFFICIAL en zh HP:0025028 rdfs:label Abnormality of enteric nervous system morphology 肠神经系统形态异常 OFFICIAL en zh HP:0025029 rdfs:label Abnormality of enteric neuron morphology 肠神经元形态异常 OFFICIAL en zh HP:0025033 rdfs:label Abnormality of digestive system morphology 消化系统形态异常 OFFICIAL @@ -237,12 +261,15 @@ en zh HP:0030132 rdfs:label Absence of large von Willibrand factor multimers 大 en zh HP:0030135 rdfs:label Absence of intermediate von Willibrand factor multimers 中间型血管性血友病因子多聚体缺乏 OFFICIAL en zh HP:0030223 rdfs:label Perseveration 持续症现象 OFFICIAL en zh HP:0030270 rdfs:label Elevated red cell adenosine deaminase level 红细胞腺苷脱氨酶活性增高 OFFICIAL +en zh HP:0030272 rdfs:label Abnormal erythrocyte enzyme level 红细胞酶水平异常 OFFICIAL +en zh HP:0030299 rdfs:label Distal femoral metaphyseal abnormality 股骨远侧干骺端异常 OFFICIAL en zh HP:0030354 rdfs:label Abnormal serum interferon level 血清干扰素水平异常 OFFICIAL en zh HP:0030355 rdfs:label Abnormal serum interferon-gamma level 血清干扰素-γ水平异常 OFFICIAL en zh HP:0030356 rdfs:label Increased serum interferon-gamma level 血清干扰素-γ水平增加 OFFICIAL en zh HP:0030508 rdfs:label Retinal cavernous hemangioma 视网膜海绵状血管瘤 OFFICIAL en zh HP:0030599 rdfs:label Abnormal Estermann grid perimetry test Estermann 网格视野检查异常 OFFICIAL en zh HP:0030680 rdfs:label Abnormality of cardiovascular system morphology 心血管系统形态异常 OFFICIAL +en zh HP:0030782 rdfs:label Abnormal circulating interleukin concentration 循环白介素水平异常 OFFICIAL en zh HP:0030794 rdfs:label Abnormal C-peptide level C-肽水平异常 OFFICIAL en zh HP:0030860 rdfs:label Abnormal CSF amyloid level 脑脊液淀粉样蛋白水平异常 OFFICIAL en zh HP:0030861 rdfs:label Decreased CSF amyloid level 脑脊液淀粉样蛋白水平降低 OFFICIAL @@ -253,6 +280,7 @@ en zh HP:0031029 rdfs:label Elevated carcinoembryonic antigen level 癌胚抗原 en zh HP:0031039 rdfs:label Early spermatogenesis maturation arrest 早期生精阻滞 OFFICIAL en zh HP:0031040 rdfs:label Late spermatogenesis maturation arrest 晚期生精阻滞 OFFICIAL en zh HP:0031085 rdfs:label Decreased prealbumin level 前白蛋白水平降低 OFFICIAL +en zh HP:0031100 rdfs:label Decreased inhibin B level 抑制素B水平降低 OFFICIAL en zh HP:0031102 rdfs:label Increased antimullerian hormone level 抗苗勒氏管激素水平升高 OFFICIAL en zh HP:0031103 rdfs:label Decreased antimullerian hormone level 抗苗勒氏管激素水平降低 OFFICIAL en zh HP:0031138 rdfs:label Abnormal B-type natriuretic peptide level B型钠尿肽水平异常 OFFICIAL @@ -274,6 +302,7 @@ en zh HP:0031906 rdfs:label Decreased total hemolytic complement activity 总溶 en zh HP:0032025 rdfs:label Reduced serum alpha-1-antitrypsin 血清α-1-抗胰蛋白酶降低 OFFICIAL en zh HP:0032119 rdfs:label Narrow angle glaucoma 闭角型青光眼 OFFICIAL en zh HP:0032179 rdfs:label Abnormal circulating globulin level 血液球蛋白水平异常 OFFICIAL +en zh HP:0032272 rdfs:label Elevated urinary N-acetylaspartic acid level 尿N-乙酰天门冬氨酸水平升高 OFFICIAL en zh HP:0032304 rdfs:label Abnormal mannose-binding protein level 甘露糖结合蛋白水平异常 OFFICIAL en zh HP:0032305 rdfs:label Decreased mannose-binding protein level 甘露糖结合蛋白水平降低 OFFICIAL en zh HP:0032306 rdfs:label Increased mannose-binding protein level 甘露糖结合蛋白水平升高 OFFICIAL @@ -286,6 +315,7 @@ en zh HP:0032501 rdfs:label Exacerbated by contraceptive medication 避孕药加 en zh HP:0032502 rdfs:label Exacerbated by barbiturate medication 巴比妥类药物加剧恶化 OFFICIAL en zh HP:0032514 rdfs:label Duplicated lacrimal punctum 泪点重复 OFFICIAL en zh HP:0032525 rdfs:label Aggravated by acetylcholinesterase inhibitor 乙酰胆碱酯酶抑制剂治疗后加重 OFFICIAL +en zh HP:0032530 rdfs:label Decreased succinic semialdehyde dehydrogenase level 琥珀酸半醛脱氢酶水平降低 OFFICIAL en zh HP:0032638 rdfs:label Elevated urine mevalonic acid 尿中甲羟戊酸升高 OFFICIAL en zh HP:0032650 rdfs:label Elevated CSF glial fibrillary acidic protein level 脑脊液神经胶质纤维酸性蛋白水平升高 OFFICIAL en zh HP:0032651 rdfs:label Elevated CSF chitinase-3-like protein 1 level 脑脊液几丁质酶-3样蛋白1水平升高 OFFICIAL @@ -321,6 +351,7 @@ en zh HP:0034255 rdfs:label Colovesicular fistula 结肠膀胱瘘 OFFICIAL en zh HP:0034335 rdfs:label Inheritance modifier 遗传修饰 OFFICIAL en zh HP:0034367 rdfs:label Decreased beta-mannosidase activity β-甘露糖苷酶活性降低 OFFICIAL en zh HP:0034379 rdfs:label Vascular granular osmiophilic material deposition 血管颗粒状嗜锇样物质沉积 OFFICIAL +en zh HP:0040057 rdfs:label Abnormality of nasal hair 鼻毛异常 OFFICIAL en zh HP:0040090 rdfs:label Abnormality of the tympanic membrane 鼓膜异常 OFFICIAL en zh HP:0040106 rdfs:label Morphological abnormality of the lateral semicircular canal 外骨半规管形态异常 OFFICIAL en zh HP:0040107 rdfs:label Morphological abnormality of the posterior semicircular canal 后骨半规管形态异常 OFFICIAL @@ -328,8 +359,11 @@ en zh HP:0040108 rdfs:label Morphological abnormality of the anterior semicircul en zh HP:0040109 rdfs:label Morphological abnormality of the utricle 椭圆囊形态学异常 OFFICIAL en zh HP:0040110 rdfs:label Morphological abnormality of the saccule 球囊形态学异常 OFFICIAL en zh HP:0040126 rdfs:label Abnormal vitamin B12 level 血清钴胺素异常 OFFICIAL +en zh HP:0040130 rdfs:label Abnormal serum iron concentration 血清铁异常 OFFICIAL +en zh HP:0040142 rdfs:label Reduced 5-oxoprolinase level 5-羟脯氨酸酶缺乏症 OFFICIAL en zh HP:0040268 rdfs:label Recurrent infections of the middle ear 中耳反复性感染 OFFICIAL en zh HP:0040278 rdfs:label Prolactinoma 泌乳素瘤 OFFICIAL +en zh HP:0040303 rdfs:label Decreased serum iron 血清铁下降 OFFICIAL en zh HP:0040323 rdfs:label Erythema of the eyelids 眼睑红斑 OFFICIAL en zh HP:0041063 rdfs:label Chronic decreased cirulating IgG2 血液IgG2持续性降低 OFFICIAL en zh HP:0041154 rdfs:label Fractured elbow joint 肘关节骨折 OFFICIAL @@ -362,6 +396,7 @@ en zh HP:0100734 rdfs:label Abnormality of vertebral epiphysis morphology 椎体 en zh HP:0100851 rdfs:label Abnormal emotion/affect behavior 异常情绪/情感行为 OFFICIAL en zh HP:0100852 rdfs:label Abnormal fear/anxiety-related behavior 恐惧/焦虑相关行为异常 OFFICIAL en zh HP:0100889 rdfs:label Abnormality of the ductus choledochus 胆总管异常 OFFICIAL +en zh HP:0100962 rdfs:label Shyness 害羞 OFFICIAL en zh HP:0200000 rdfs:label Dysharmonic bone age 骨龄发育不一致 OFFICIAL en zh HP:0410003 rdfs:label Cleft maxillary alveolus 上牙槽突裂 OFFICIAL en zh HP:0410014 rdfs:label Abnormality of ganglion 神经节异常 OFFICIAL @@ -377,11 +412,19 @@ en zh HP:0410144 rdfs:label Abnormal biotinidase level 生物素酶水平异常 en zh HP:0410145 rdfs:label Decreased biotinidase level 生物素酶水平降低 OFFICIAL en zh HP:0410146 rdfs:label Increased biotinidase level 生物素酶水平升高 OFFICIAL en zh HP:0410176 rdfs:label Abnormal glucose-6-phosphate dehydrogenase level 6-磷酸葡萄糖脱氢酶异常 OFFICIAL +en zh HP:0410192 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level 尿苷二磷酸葡萄糖4位异构酶异常 OFFICIAL +en zh HP:0410193 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level in plasma 血浆尿苷二磷酸葡萄糖4位异构酶异常 OFFICIAL +en zh HP:0410194 rdfs:label Increased uridine diphosphate glucose-4-epimerase level in plasma 血浆尿苷二磷酸葡萄糖4位异构酶升高 OFFICIAL +en zh HP:0410195 rdfs:label Decreased uridine diphosphate glucose-4-epimerase level in plasma 血浆尿苷二磷酸葡萄糖4位异构酶降低 OFFICIAL +en zh HP:0410196 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells 红细胞尿苷二磷酸葡萄糖4位异构酶异常 OFFICIAL +en zh HP:0410197 rdfs:label Increased uridine diphosphate glucose-4-epimerase level in red blood cells 红细胞尿苷二磷酸葡萄糖4位异构酶升高 OFFICIAL +en zh HP:0410198 rdfs:label Decreased uridine diphosphate glucose-4-epimerase level in red blood cells 红细胞尿苷二磷酸葡萄糖4位异构酶降低 OFFICIAL en zh HP:0410282 rdfs:label Abnormal circulating amylase level 血液淀粉酶水平异常 OFFICIAL en zh HP:0410325 rdfs:label House dust mite allergy 屋内尘螨过敏 OFFICIAL en zh HP:0500159 rdfs:label Increased level of circulating aspartic acid 血液天冬氨酸水平升高 OFFICIAL en zh HP:0500161 rdfs:label Increased level of carnosine in blood 血液肌肽水平升高 OFFICIAL en zh HP:0500162 rdfs:label Decreased level of carnosine in blood 血液肌肽水平降低 OFFICIAL +en zh HP:3000004 rdfs:label Abnormality of frontalis muscle belly 额肌肌腹异常 OFFICIAL en zh HP:4000034 rdfs:label Infection-ssociated lymphopenia 感染相关淋巴细胞减少 OFFICIAL en zh HP:4000070 rdfs:label Circumscribed interests 兴趣狭隘 OFFICIAL en zh HP:4000072 rdfs:label Abnormal verbal communicative behavior 语言交际行为异常 OFFICIAL diff --git a/src/translations/hp-zh-not-translated.babelon.tsv b/src/translations/hp-zh-not-translated.babelon.tsv index 4bbcf09f3..4a3feb7ec 100644 --- a/src/translations/hp-zh-not-translated.babelon.tsv +++ b/src/translations/hp-zh-not-translated.babelon.tsv @@ -664,7 +664,7 @@ en Shoulder abduction contracture HP:0034990 rdfs:label zh NOT_TRANSLATED en Shoulder external rotation contracture HP:0034991 rdfs:label zh NOT_TRANSLATED en Thumb adduction contracture HP:0034992 rdfs:label zh NOT_TRANSLATED en Hip internal rotation contracture HP:0034993 rdfs:label zh NOT_TRANSLATED -en Reduced hepatic fructose-1,6-bisphosphatase activity HP:0034995 rdfs:label zh NOT_TRANSLATED +en Reduced tissue fructose-1,6-bisphosphatase activity HP:0034995 rdfs:label zh NOT_TRANSLATED en Reduced hepatic carbamoylphosphate synthetase 1 activity HP:0034996 rdfs:label zh NOT_TRANSLATED en Reduced intraepidermal small nerve fiber density HP:0034997 rdfs:label zh NOT_TRANSLATED en Femoral artery duplication HP:0034998 rdfs:label zh NOT_TRANSLATED @@ -835,6 +835,14 @@ en Positive CSF pathogen-specific antibody positivity HP:0430139 rdfs:label zh en Positive CSF nucleic acid pathogen test HP:0430140 rdfs:label zh NOT_TRANSLATED en Positive CSF varicella zoster antibody positivity HP:0430141 rdfs:label zh NOT_TRANSLATED en Reduced circulating interleukin 6 concentration HP:0430142 rdfs:label zh NOT_TRANSLATED +en Elevated circulating C12 acylcarnitine concentration HP:0430143 rdfs:label zh NOT_TRANSLATED +en Frontalis muscle overactivity HP:0430144 rdfs:label zh NOT_TRANSLATED +en Nasal dermoid cyst HP:0430145 rdfs:label zh NOT_TRANSLATED +en Elevated circulating complement C3 concentration HP:0430146 rdfs:label zh NOT_TRANSLATED +en Abnormal circulating inhibin B concentration HP:0430147 rdfs:label zh NOT_TRANSLATED +en Abnormal circulating lipoprotein(a) concentration HP:0430148 rdfs:label zh NOT_TRANSLATED +en Positive blood infectious agent test HP:0430150 rdfs:label zh NOT_TRANSLATED +en Positive respiratory tract infectious agent test HP:0430151 rdfs:label zh NOT_TRANSLATED en Ectopic tooth eruption HP:4000093 rdfs:label zh NOT_TRANSLATED en Corpus cavernosum hypoplasia HP:4000094 rdfs:label zh NOT_TRANSLATED en Elevated circulating thymine concentration HP:4000095 rdfs:label zh NOT_TRANSLATED @@ -963,9 +971,9 @@ en Ambiguous facial expression HP:5200013 rdfs:label zh NOT_TRANSLATED en Exaggerated facial expression HP:5200014 rdfs:label zh NOT_TRANSLATED en Muted facial expression HP:5200015 rdfs:label zh NOT_TRANSLATED en Abnormal peer relationships HP:5200016 rdfs:label zh NOT_TRANSLATED -en Abnormal movements of face and head HP:5200017 rdfs:label zh NOT_TRANSLATED -en Abnormal movements of the upper extremities HP:5200018 rdfs:label zh NOT_TRANSLATED -en Abnormal movements of the whole body HP:5200019 rdfs:label zh NOT_TRANSLATED +en Steroetypic movements of face and head HP:5200017 rdfs:label zh NOT_TRANSLATED +en Steroetypic upper-extremity movements HP:5200018 rdfs:label zh NOT_TRANSLATED +en Stereotypic whole-body movements HP:5200019 rdfs:label zh NOT_TRANSLATED en Abnormal interest in others HP:5200020 rdfs:label zh NOT_TRANSLATED en Reduced social insight HP:5200021 rdfs:label zh NOT_TRANSLATED en Reduced awareness of convention HP:5200022 rdfs:label zh NOT_TRANSLATED @@ -977,7 +985,7 @@ en Social disinhibition HP:5200029 rdfs:label zh NOT_TRANSLATED en Diminished integration of verbal and non-verbal communicative behavior HP:5200030 rdfs:label zh NOT_TRANSLATED en Reduced cooperative imaginative play HP:5200035 rdfs:label zh NOT_TRANSLATED en Reduced responsiveness to verbal cues HP:5200036 rdfs:label zh NOT_TRANSLATED -en Lack of expressed empath HP:5200037 rdfs:label zh NOT_TRANSLATED +en Lack of expressed empathy HP:5200037 rdfs:label zh NOT_TRANSLATED en Bradylalia HP:5200038 rdfs:label zh NOT_TRANSLATED en Excessively loud speech HP:5200039 rdfs:label zh NOT_TRANSLATED en Excessively quiet voice HP:5200040 rdfs:label zh NOT_TRANSLATED @@ -1067,7 +1075,7 @@ en Hypervigilance HP:5200231 rdfs:label zh NOT_TRANSLATED en Phobia HP:5200232 rdfs:label zh NOT_TRANSLATED en Anticipatory anxiety HP:5200233 rdfs:label zh NOT_TRANSLATED en Flight of ideas HP:5200234 rdfs:label zh NOT_TRANSLATED -en Thought disorder HP:5200235 rdfs:label zh NOT_TRANSLATED +en Disorganized speech or communication HP:5200235 rdfs:label zh NOT_TRANSLATED en Pronunciation difficulties HP:5200237 rdfs:label zh NOT_TRANSLATED en Vowel expressive impediment HP:5200238 rdfs:label zh NOT_TRANSLATED en Consonant expressive impediment HP:5200239 rdfs:label zh NOT_TRANSLATED @@ -1413,7 +1421,7 @@ en Prosthetic heart valve HP:6000227 rdfs:label zh NOT_TRANSLATED en Failure to increase oxygen saturation on hyperoxia test HP:6000228 rdfs:label zh NOT_TRANSLATED en High-set nipples HP:6000229 rdfs:label zh NOT_TRANSLATED en Decreased muscle caveolin-3 level HP:6000230 rdfs:label zh NOT_TRANSLATED -en Abnormal tissue enzyme activity HP:6000231 rdfs:label zh NOT_TRANSLATED +en Abnormal tissue enzyme concentration or activity HP:6000231 rdfs:label zh NOT_TRANSLATED en Splenic necrosis HP:6000232 rdfs:label zh NOT_TRANSLATED en Carcinoid tumor of the pancreas HP:6000233 rdfs:label zh NOT_TRANSLATED en Elevated circulating dihydroxyphenylacetic acid concentration HP:6000234 rdfs:label zh NOT_TRANSLATED @@ -1631,5 +1639,250 @@ en Elevated thallium cadmiun concentration HP:6000445 rdfs:label zh NOT_TRANSLA en Abnormal circulating CC chemokine concentration HP:6000446 rdfs:label zh NOT_TRANSLATED en Decreased CSF asialotransferrin to transferrin ratio HP:6000447 rdfs:label zh NOT_TRANSLATED en Anti-desmocollin antibody positivity HP:6000448 rdfs:label zh NOT_TRANSLATED +en Occupational exposure to raw nonsynthetic textiles HP:6000449 rdfs:label zh NOT_TRANSLATED +en Rokitansky-Aschoff gallbladder sinuses HP:6000450 rdfs:label zh NOT_TRANSLATED +en Porcelain gallbladder HP:6000451 rdfs:label zh NOT_TRANSLATED +en Gallbladder adhesions HP:6000452 rdfs:label zh NOT_TRANSLATED +en Bilioduodenal fistula HP:6000453 rdfs:label zh NOT_TRANSLATED +en Pneumobilia HP:6000454 rdfs:label zh NOT_TRANSLATED +en Ectopic gallstone HP:6000455 rdfs:label zh NOT_TRANSLATED +en Sleep drunkeness HP:6000456 rdfs:label zh NOT_TRANSLATED +en Mallory bodies HP:6000457 rdfs:label zh NOT_TRANSLATED +en Sulfur-containing abscess HP:6000458 rdfs:label zh NOT_TRANSLATED +en Retracted tympanic membrane HP:6000459 rdfs:label zh NOT_TRANSLATED +en Ectopic testis HP:6000460 rdfs:label zh NOT_TRANSLATED +en Cerebral subcortical cyst HP:6000461 rdfs:label zh NOT_TRANSLATED +en Anti-ADAMTS13 antibody positivity HP:6000462 rdfs:label zh NOT_TRANSLATED +en Habitual mouth breathing HP:6000463 rdfs:label zh NOT_TRANSLATED +en Squared off shoulders HP:6000464 rdfs:label zh NOT_TRANSLATED +en Elevated urine mesaconic acid level HP:6000465 rdfs:label zh NOT_TRANSLATED +en Elevated urine 3-methyladipic acid level HP:6000466 rdfs:label zh NOT_TRANSLATED +en Elevated urine D-lactate level HP:6000467 rdfs:label zh NOT_TRANSLATED +en Elevated CSF alpha-ketoglutarate concentration HP:6000468 rdfs:label zh NOT_TRANSLATED +en Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level HP:6000469 rdfs:label zh NOT_TRANSLATED +en Fetal oral mass HP:6000470 rdfs:label zh NOT_TRANSLATED +en Dilated ejaculatory duct HP:6000471 rdfs:label zh NOT_TRANSLATED +en Decreased Wiskott-Aldrich syndrome protein concentration in hematopoietic cells HP:6000472 rdfs:label zh NOT_TRANSLATED +en Decreased FOXP3-expressing T cell count HP:6000473 rdfs:label zh NOT_TRANSLATED +en Elevated circulating complement component concentration HP:6000474 rdfs:label zh NOT_TRANSLATED +en Anti-beta fodrin antibody positivity HP:6000475 rdfs:label zh NOT_TRANSLATED +en Elevated circulating tetradecenoylcarnitine concentration HP:6000476 rdfs:label zh NOT_TRANSLATED +en Elevated urine 2-trans,4-cis-decadienoylcarnitine level HP:6000477 rdfs:label zh NOT_TRANSLATED +en Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration HP:6000478 rdfs:label zh NOT_TRANSLATED +en Elevated urine N-acetyltyrosine level HP:6000479 rdfs:label zh NOT_TRANSLATED +en Elevated urine manganese level HP:6000480 rdfs:label zh NOT_TRANSLATED +en Reduced urinary manganese level HP:6000481 rdfs:label zh NOT_TRANSLATED +en Decreased circulating catecholamine concentration HP:6000482 rdfs:label zh NOT_TRANSLATED +en Empty sella turcica HP:6000483 rdfs:label zh NOT_TRANSLATED +en Elevated brain guanidinoacetate level by MRS HP:6000484 rdfs:label zh NOT_TRANSLATED +en Elevated circulating beta chorionic gonadotropin concentration HP:6000485 rdfs:label zh NOT_TRANSLATED +en Elevated circulating CXCL10 concentration HP:6000486 rdfs:label zh NOT_TRANSLATED +en Reduced circulating interleukin 12 concentration HP:6000487 rdfs:label zh NOT_TRANSLATED +en Reduced circulating fibroblast growth factor 23 concentration HP:6000488 rdfs:label zh NOT_TRANSLATED +en Abnormal circulating fibroblast growth factor 23 concentration HP:6000489 rdfs:label zh NOT_TRANSLATED +en Impaired heel-walking ability HP:6000490 rdfs:label zh NOT_TRANSLATED +en Anti-prothrombin antibody positivity HP:6000491 rdfs:label zh NOT_TRANSLATED +en Anti-factor V antibody positivity HP:6000492 rdfs:label zh NOT_TRANSLATED +en Anti-factor VII antibody positivity HP:6000493 rdfs:label zh NOT_TRANSLATED +en Anti-factor VIII antibody positivity HP:6000494 rdfs:label zh NOT_TRANSLATED +en Anti-factor IX antibody positivity HP:6000495 rdfs:label zh NOT_TRANSLATED +en Anti-factor X antibody positivity HP:6000496 rdfs:label zh NOT_TRANSLATED +en Anti-factor XI antibody positivity HP:6000497 rdfs:label zh NOT_TRANSLATED +en Anti-factor XIII antibody positivity HP:6000498 rdfs:label zh NOT_TRANSLATED +en Anti-factor H antibody positivity HP:6000499 rdfs:label zh NOT_TRANSLATED +en Extremities cold to touch HP:6000500 rdfs:label zh NOT_TRANSLATED +en Ruffled acrosome HP:6000501 rdfs:label zh NOT_TRANSLATED +en Elevated circulating calprotectin concentration HP:6000502 rdfs:label zh NOT_TRANSLATED +en 4-5 toe cutaneous syndactyly HP:6000503 rdfs:label zh NOT_TRANSLATED +en Poly-hill sign HP:6000504 rdfs:label zh NOT_TRANSLATED +en 3-5 finger cutaneous syndactyly HP:6000505 rdfs:label zh NOT_TRANSLATED +en Radioulnar subluxation HP:6000506 rdfs:label zh NOT_TRANSLATED +en Non-pitting edema HP:6000507 rdfs:label zh NOT_TRANSLATED +en Anti-human ferritin peptide antibody positivity HP:6000508 rdfs:label zh NOT_TRANSLATED +en Elevated CSF L-2-hydroxyglutaric acid concentration HP:6000509 rdfs:label zh NOT_TRANSLATED +en Elevated erythrocyte inosine triphosphate concentration HP:6000510 rdfs:label zh NOT_TRANSLATED +en Reduced erythrocyte inosine triphosphatase activity HP:6000511 rdfs:label zh NOT_TRANSLATED +en Reduced circulating alpha-1,3-fucosyltransferase activity HP:6000512 rdfs:label zh NOT_TRANSLATED +en Diminished neutrophil myeloperoxidase activity HP:6000513 rdfs:label zh NOT_TRANSLATED +en Reduced erythrocyte uroporphyrinogen III cosynthase activity HP:6000514 rdfs:label zh NOT_TRANSLATED +en Elevated 18-hydroxycorticosterone to aldosterone ratio HP:6000515 rdfs:label zh NOT_TRANSLATED +en Elevated circulating 21-deoxycortisol concentration HP:6000516 rdfs:label zh NOT_TRANSLATED +en Elevated monolysocardiolipin/cardiolipin ratio HP:6000517 rdfs:label zh NOT_TRANSLATED +en Low maternal vitamin B12 concentration HP:6000518 rdfs:label zh NOT_TRANSLATED +en Elevated circulating inhibin A concentration HP:6000519 rdfs:label zh NOT_TRANSLATED +en Increased circulating inhibin B concentration HP:6000520 rdfs:label zh NOT_TRANSLATED +en Elevated circulating lipoprotein(a) concentration HP:6000521 rdfs:label zh NOT_TRANSLATED +en Reduced circulating lipoprotein(a) concentration HP:6000522 rdfs:label zh NOT_TRANSLATED +en Increased urinary bile acid level HP:6000523 rdfs:label zh NOT_TRANSLATED +en Abnormal urinary bile acid level HP:6000524 rdfs:label zh NOT_TRANSLATED +en Reduced erythrocyte glutathione reductase activity HP:6000525 rdfs:label zh NOT_TRANSLATED +en Failure to elevate lactate upon ischemic exercise test HP:6000526 rdfs:label zh NOT_TRANSLATED +en Elevated circulating cholestanol concentration HP:6000527 rdfs:label zh NOT_TRANSLATED +en Livestock exposure HP:6000528 rdfs:label zh NOT_TRANSLATED +en Synchronous skin lesions HP:6000529 rdfs:label zh NOT_TRANSLATED +en Serpentine skin location HP:6000530 rdfs:label zh NOT_TRANSLATED +en Abnormal urinary organic compound level HP:6000531 rdfs:label zh NOT_TRANSLATED +en Elevated urinary histamine level HP:6000532 rdfs:label zh NOT_TRANSLATED +en Elevated urinary N-methylhistamine level HP:6000533 rdfs:label zh NOT_TRANSLATED +en Elevated urinary ureidopropionic acid level HP:6000534 rdfs:label zh NOT_TRANSLATED +en Elevated urinary porphyrin level HP:6000535 rdfs:label zh NOT_TRANSLATED +en Elevated urinary coproporphyrin level HP:6000536 rdfs:label zh NOT_TRANSLATED +en Ecrrine sweat gland predominance HP:6000537 rdfs:label zh NOT_TRANSLATED +en Poorly demarcated skin lesion HP:6000538 rdfs:label zh NOT_TRANSLATED +en History of recent cat bite HP:6000539 rdfs:label zh NOT_TRANSLATED +en History of recent stay in area with inadequate sewage sanitation HP:6000540 rdfs:label zh NOT_TRANSLATED +en Positive cutaneous herpes simplex virus nucleic acid test HP:6000541 rdfs:label zh NOT_TRANSLATED +en Positive CSF mycobacterium tuberculosis nucleic acid test HP:6000542 rdfs:label zh NOT_TRANSLATED +en Posiitive mycobacterium CSF culture HP:6000543 rdfs:label zh NOT_TRANSLATED +en Positive mycobacterium CSF microscopy HP:6000544 rdfs:label zh NOT_TRANSLATED +en Positive treponema pallidum PCR test in the blood circulation HP:6000545 rdfs:label zh NOT_TRANSLATED +en Positive human Immunodeficiency virus nucleic acid test in the blood circulation HP:6000546 rdfs:label zh NOT_TRANSLATED +en Positive CSF enterovirus nucleic acid test HP:6000547 rdfs:label zh NOT_TRANSLATED +en Positive CSF Borrelia burgdorferi nucleic acid test HP:6000548 rdfs:label zh NOT_TRANSLATED +en Positive CSF arbovirus nucleic acid test HP:6000549 rdfs:label zh NOT_TRANSLATED +en Positive Bartonella henselae nucleic acid test in the blood circulation HP:6000550 rdfs:label zh NOT_TRANSLATED +en Positive Dengue virus PCR test in the blood circulation HP:6000551 rdfs:label zh NOT_TRANSLATED +en Positive CSF JC-virus nucleic acid test HP:6000552 rdfs:label zh NOT_TRANSLATED +en Bloodstream Malaria parasite HP:6000553 rdfs:label zh NOT_TRANSLATED +en Positive bloodstream plasmodium falciparum nucleic acid pathogen test HP:6000554 rdfs:label zh NOT_TRANSLATED +en Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity HP:6000555 rdfs:label zh NOT_TRANSLATED +en Reduced circulating dopamine beta-hydroxylase activity HP:6000556 rdfs:label zh NOT_TRANSLATED +en Reduced erythrocyte bisphosphoglycerate mutase activity HP:6000557 rdfs:label zh NOT_TRANSLATED +en Reduced erythrocyte adenylate kinase activity HP:6000558 rdfs:label zh NOT_TRANSLATED +en Reduced erythrocyte hexokinase activity HP:6000559 rdfs:label zh NOT_TRANSLATED +en Decreased circulating carboxypeptidase N activity HP:6000560 rdfs:label zh NOT_TRANSLATED +en Elevated red cell pyruvate kinase activity HP:6000561 rdfs:label zh NOT_TRANSLATED +en Reduced circulating adenosine deaminase-2 activity HP:6000562 rdfs:label zh NOT_TRANSLATED +en Reduced sepiapterin reductase activity in cultured fibroblasts HP:6000563 rdfs:label zh NOT_TRANSLATED +en Elevated circulating vasoactive intestinal peptide concentration HP:6000564 rdfs:label zh NOT_TRANSLATED +en Elevated circulating cholesterol sulfate concentration HP:6000565 rdfs:label zh NOT_TRANSLATED +en Elevated circulating lipoprotein X concentration HP:6000566 rdfs:label zh NOT_TRANSLATED +en Elevated circulating oxalate concentration HP:6000567 rdfs:label zh NOT_TRANSLATED +en Elevated blood ethylene glycol concentration HP:6000568 rdfs:label zh NOT_TRANSLATED +en Midline notching of lower lip HP:6000569 rdfs:label zh NOT_TRANSLATED +en Reduced tissue thymidine phosphorylase activity HP:6000570 rdfs:label zh NOT_TRANSLATED +en Reduced tissue tripeptidyl peptidase 1 activity HP:6000571 rdfs:label zh NOT_TRANSLATED +en Reduced tissue arginine:glycine amidinotransferase activity HP:6000572 rdfs:label zh NOT_TRANSLATED +en Reduced tissue aspartylglucosaminidase activity HP:6000573 rdfs:label zh NOT_TRANSLATED +en Reduced tissue carnitine-acylcarnitine translocase activity HP:6000574 rdfs:label zh NOT_TRANSLATED +en Reduced circulating 6-pyruvoyltetrahydropterin synthase activity HP:6000575 rdfs:label zh NOT_TRANSLATED +en Reduced tissue mannosyl-oligosaccharide glucosidase activity HP:6000576 rdfs:label zh NOT_TRANSLATED +en Reduced tissue 3-methylglutaconyl-CoA hydratase activity HP:6000577 rdfs:label zh NOT_TRANSLATED +en Reduced tissue gamma-glutamyltransferase activity HP:6000578 rdfs:label zh NOT_TRANSLATED +en Positive oropharangeal infectious agent test HP:6000579 rdfs:label zh NOT_TRANSLATED +en Positive oropharynx poliovirus nucleic acid test HP:6000580 rdfs:label zh NOT_TRANSLATED +en Positive synonvial fluid infectious agent test HP:6000581 rdfs:label zh NOT_TRANSLATED +en Positive synonvial fluid culture HP:6000582 rdfs:label zh NOT_TRANSLATED +en Positive synovial fluid gram stain HP:6000583 rdfs:label zh NOT_TRANSLATED +en Anti Parvovirus antibody positivity HP:6000584 rdfs:label zh NOT_TRANSLATED +en Brain parenchymal tuberculoma HP:6000585 rdfs:label zh NOT_TRANSLATED +en Muscle arteriovenous malformation HP:6000586 rdfs:label zh NOT_TRANSLATED +en Bone arteriovenous malformation HP:6000587 rdfs:label zh NOT_TRANSLATED +en Periosteal elevation HP:6000588 rdfs:label zh NOT_TRANSLATED +en Esophageal dilation HP:6000589 rdfs:label zh NOT_TRANSLATED +en Spinal lipoma HP:6000590 rdfs:label zh NOT_TRANSLATED +en Loose body in joint HP:6000591 rdfs:label zh NOT_TRANSLATED +en Paraspinal arteriovenous malformation HP:6000592 rdfs:label zh NOT_TRANSLATED +en Supernumerary tarsal bone HP:6000593 rdfs:label zh NOT_TRANSLATED +en Maxillary cyst HP:6000594 rdfs:label zh NOT_TRANSLATED +en Mandibular cyst HP:6000595 rdfs:label zh NOT_TRANSLATED +en Sixth cranial nerve hypoplasia HP:6000596 rdfs:label zh NOT_TRANSLATED +en Third cranial nerve hypoplasia HP:6000597 rdfs:label zh NOT_TRANSLATED +en Elevated urinary succinylacetone level HP:6000598 rdfs:label zh NOT_TRANSLATED +en Elevated urinary 2-oxoisocaproic level HP:6000599 rdfs:label zh NOT_TRANSLATED +en Elevated urinary 2-oxovaleric acid level HP:6000600 rdfs:label zh NOT_TRANSLATED +en Elevated urinary 2-hydroxyisocaproic acid level HP:6000601 rdfs:label zh NOT_TRANSLATED +en Elevated urinary isovalerylglycine level HP:6000602 rdfs:label zh NOT_TRANSLATED +en Elevated urinary 2-methyl-3-hydroxybutyric acid level HP:6000603 rdfs:label zh NOT_TRANSLATED +en Elevated urinary 3-hydroxypentanoic acid level HP:6000604 rdfs:label zh NOT_TRANSLATED +en Elevated urinary 7-hydroxyoctanoic acid level HP:6000605 rdfs:label zh NOT_TRANSLATED +en Elevated urinary D-glyceric acid level HP:6000606 rdfs:label zh NOT_TRANSLATED +en Elevated urinary 3-hydroxyisobutyric acid level HP:6000607 rdfs:label zh NOT_TRANSLATED +en Elevated urinary 3,4-Dihydroxybutyric acid level HP:6000608 rdfs:label zh NOT_TRANSLATED +en Elevated urinary 3-hydroxyadipic acid level HP:6000609 rdfs:label zh NOT_TRANSLATED +en Elevated erythrocyte galactose-1-phosphate concentration HP:6000610 rdfs:label zh NOT_TRANSLATED +en Elevated circulating chitotriosidase activity HP:6000611 rdfs:label zh NOT_TRANSLATED +en Squamosal suture synostosis HP:6000612 rdfs:label zh NOT_TRANSLATED +en Enlarged fetal lungs HP:6000613 rdfs:label zh NOT_TRANSLATED +en Orbital inflammation HP:6000614 rdfs:label zh NOT_TRANSLATED +en Reduced Inositol polyphosphate 5-phosphatase OCRL-1 activity in cultured fibroblasts HP:6000615 rdfs:label zh NOT_TRANSLATED +en Reduced muscle glycogen debrancher enzyme activity HP:6000616 rdfs:label zh NOT_TRANSLATED +en Reduced tissue UDP-glucuronyl-transferase activity HP:6000617 rdfs:label zh NOT_TRANSLATED +en Temporal artery giant cells HP:6000618 rdfs:label zh NOT_TRANSLATED +en Reduced phosphoenolpyruvate carboxykinase activity in cultured fibroblasts HP:6000619 rdfs:label zh NOT_TRANSLATED +en Elevated urinary pyrroline hydroxycarboxylic acid level HP:6000620 rdfs:label zh NOT_TRANSLATED +en Elevated urinary N-tau-ribosylhistidine level HP:6000621 rdfs:label zh NOT_TRANSLATED +en Elevated urinary ureidoisobutyric acid level HP:6000622 rdfs:label zh NOT_TRANSLATED +en Elevated urinary N-carbamyl-beta-aminoisobutyric acid level HP:6000623 rdfs:label zh NOT_TRANSLATED +en Nipple epidermal Paget cells HP:6000624 rdfs:label zh NOT_TRANSLATED +en Penile corporal blood gas ischemia HP:6000625 rdfs:label zh NOT_TRANSLATED +en Recent temporal region trauma HP:6000626 rdfs:label zh NOT_TRANSLATED +en Rest limb pain HP:6000627 rdfs:label zh NOT_TRANSLATED +en Scalloped appearance of liver surface HP:6000628 rdfs:label zh NOT_TRANSLATED +en Nipple thickening HP:6000629 rdfs:label zh NOT_TRANSLATED +en Hypoechoic breast mass HP:6000630 rdfs:label zh NOT_TRANSLATED +en Unilocular ovarian cyst HP:6000631 rdfs:label zh NOT_TRANSLATED +en Mesenteric torsion HP:6000632 rdfs:label zh NOT_TRANSLATED +en High-pitched bowel sounds HP:6000633 rdfs:label zh NOT_TRANSLATED +en Exacerbated by opiate medication HP:6000634 rdfs:label zh NOT_TRANSLATED +en Breast granuloma HP:6000635 rdfs:label zh NOT_TRANSLATED +en Exposure to cosmetic fragrances HP:6000636 rdfs:label zh NOT_TRANSLATED +en Sweating and flushing in the preauricular area in response to mastication HP:6000637 rdfs:label zh NOT_TRANSLATED +en Reduced hepatic glyoxylate reductase activity HP:6000638 rdfs:label zh NOT_TRANSLATED +en PAS-positive lymphocyte vacuolization HP:6000639 rdfs:label zh NOT_TRANSLATED +en Lipid-laden bone-marrow macrophages HP:6000640 rdfs:label zh NOT_TRANSLATED +en Bone marrow monocytosis HP:6000641 rdfs:label zh NOT_TRANSLATED +en Sunflower cataract HP:6000642 rdfs:label zh NOT_TRANSLATED +en Anti-lamin A antibody positivity HP:6000643 rdfs:label zh NOT_TRANSLATED +en Anti-lamin C antibody positivity HP:6000644 rdfs:label zh NOT_TRANSLATED +en Anti-vinculin antibody positivity HP:6000645 rdfs:label zh NOT_TRANSLATED +en Anti-annexin A5 antibody positivity HP:6000646 rdfs:label zh NOT_TRANSLATED +en Bulging fontanelle HP:6000647 rdfs:label zh NOT_TRANSLATED +en 3-4 toe cutaneous syndactyly HP:6000648 rdfs:label zh NOT_TRANSLATED +en Triangular nail HP:6000649 rdfs:label zh NOT_TRANSLATED +en Distal tibiofibular synostosis HP:6000650 rdfs:label zh NOT_TRANSLATED +en Abnormal metacarpal ossification HP:6000651 rdfs:label zh NOT_TRANSLATED +en Rib spur HP:6000652 rdfs:label zh NOT_TRANSLATED +en Crescent-shaped iliac bone HP:6000653 rdfs:label zh NOT_TRANSLATED +en Abnormal ischium ossification HP:6000654 rdfs:label zh NOT_TRANSLATED +en Femoral neck fracture HP:6000655 rdfs:label zh NOT_TRANSLATED +en Papillary dermis eosinophilic hyaline material HP:6000656 rdfs:label zh NOT_TRANSLATED +en Pancreatic intraductal papillary mucinous neoplasm HP:6000657 rdfs:label zh NOT_TRANSLATED +en Medium vessel vasculitis HP:6000658 rdfs:label zh NOT_TRANSLATED +en Elevated muscle fiber laminin alpha 5 expression HP:6000659 rdfs:label zh NOT_TRANSLATED +en Paravertebral mass HP:6000660 rdfs:label zh NOT_TRANSLATED +en Phlebolith HP:6000661 rdfs:label zh NOT_TRANSLATED +en Bladder rupture HP:6000662 rdfs:label zh NOT_TRANSLATED +en Elevated myocardial iron load HP:6000663 rdfs:label zh NOT_TRANSLATED +en Right ventricular regional wall motion abnormality HP:6000664 rdfs:label zh NOT_TRANSLATED +en Right ventricular regional akinesia HP:6000665 rdfs:label zh NOT_TRANSLATED +en Right ventricular regional dyskinesia HP:6000666 rdfs:label zh NOT_TRANSLATED +en Right ventricular aneurysm HP:6000667 rdfs:label zh NOT_TRANSLATED +en Glomerular immune-complex deposition HP:6000668 rdfs:label zh NOT_TRANSLATED +en Glomerular PLA2R immune-complex deposition HP:6000669 rdfs:label zh NOT_TRANSLATED +en Elevated urinary L-glycerate level HP:6000670 rdfs:label zh NOT_TRANSLATED +en Breast myxoma HP:6000671 rdfs:label zh NOT_TRANSLATED +en Ovarian cystadenoma HP:6000672 rdfs:label zh NOT_TRANSLATED +en Abnormal CSF N-acetylaspartic acid concentration HP:6000673 rdfs:label zh NOT_TRANSLATED +en Decreased CSF N-acetylaspartic acid concentration HP:6000674 rdfs:label zh NOT_TRANSLATED +en Elevated urinary mevalonate lactone level HP:6000675 rdfs:label zh NOT_TRANSLATED +en Anti-von Willebrand factor antibody positivity HP:6000676 rdfs:label zh NOT_TRANSLATED +en Elevated natural killer cell count HP:6000677 rdfs:label zh NOT_TRANSLATED +en Myositis-specific autoantibody positivity HP:6000678 rdfs:label zh NOT_TRANSLATED +en Abnormal serum osmolality HP:6000679 rdfs:label zh NOT_TRANSLATED +en Low serum osmolality HP:6000680 rdfs:label zh NOT_TRANSLATED +en High serum osmolality HP:6000681 rdfs:label zh NOT_TRANSLATED +en History of compressive dressings HP:6000682 rdfs:label zh NOT_TRANSLATED +en Triggered by overhead motions HP:6000683 rdfs:label zh NOT_TRANSLATED +en Radiating pain HP:6000684 rdfs:label zh NOT_TRANSLATED +en Mitral opening snap HP:6000685 rdfs:label zh NOT_TRANSLATED +en Mucus in stool HP:6000686 rdfs:label zh NOT_TRANSLATED +en Elevated circulating CCL3 concentration HP:6000687 rdfs:label zh NOT_TRANSLATED +en Elevated circulating CCL4 concentration HP:6000688 rdfs:label zh NOT_TRANSLATED +en Elevated CSF 14-3-3 protein concentration HP:6000689 rdfs:label zh NOT_TRANSLATED +en Elevated CSF dihydrobiopterin concentration HP:6000690 rdfs:label zh NOT_TRANSLATED +en Left atrial fibrosis HP:6000691 rdfs:label zh NOT_TRANSLATED +en Abnormal circulating atrial natriuretic peptide pro-hormone concentration HP:6000692 rdfs:label zh NOT_TRANSLATED +en Reduced circulating NT-proANP concentration HP:6000693 rdfs:label zh NOT_TRANSLATED en inheres in RO:0000052 rdfs:label zh NOT_TRANSLATED en inheres in part of RO:0002314 rdfs:label zh NOT_TRANSLATED diff --git a/src/translations/hp-zh-preprocessed.babelon.tsv b/src/translations/hp-zh-preprocessed.babelon.tsv index aac241433..6de2a0b3b 100644 --- a/src/translations/hp-zh-preprocessed.babelon.tsv +++ b/src/translations/hp-zh-preprocessed.babelon.tsv @@ -319,7 +319,7 @@ en zh HP:0000410 rdfs:label Mixed hearing impairment 混合性听力损失 OFFIC en zh HP:0000411 rdfs:label Protruding ear 招风耳 OFFICIAL en zh HP:0000413 rdfs:label Atresia of the external auditory canal 外耳道闭锁 OFFICIAL en zh HP:0000414 rdfs:label Bulbous nose 蒜头鼻 OFFICIAL -en zh HP:0000415 rdfs:label Abnormality of the choanae 鼻后孔的异常 OFFICIAL +en zh HP:0000415 rdfs:label Abnormal choanae morphology 鼻后孔的异常 CANDIDATE en zh HP:0000417 rdfs:label Slender nose 鼻细长 OFFICIAL en zh HP:0000418 rdfs:label Narrow nasal ridge 鼻脊狭窄 OFFICIAL en zh HP:0000419 rdfs:label Abnormal nasal septum morphology 鼻中隔异常 CANDIDATE @@ -568,7 +568,7 @@ en zh HP:0000727 rdfs:label Frontal lobe dementia 额叶痴呆 OFFICIAL en zh HP:0000728 rdfs:label Impaired ability to form peer relationships 同伴关系建立能力障碍 OFFICIAL en zh HP:0000729 rdfs:label Autistic behavior 自闭症行为 OFFICIAL en zh HP:0000732 rdfs:label Inflexible adherence to routines 恪守程序或习惯 CANDIDATE -en zh HP:0000733 rdfs:label Abnormal repetitive mannerisms 运动刻板 CANDIDATE +en zh HP:0000733 rdfs:label Motor stereotypy 运动刻板 OFFICIAL en zh HP:0000734 rdfs:label Disinhibition 脱抑制 OFFICIAL en zh HP:0000735 rdfs:label obsolete Impaired social interactions 社会交往障碍 CANDIDATE en zh HP:0000736 rdfs:label Short attention span 注意力短暂 OFFICIAL @@ -1380,7 +1380,7 @@ en zh HP:0001896 rdfs:label Reticulocytopenia 网织细胞减少症 OFFICIAL en zh HP:0001897 rdfs:label Normocytic anemia 正细胞性贫血 OFFICIAL en zh HP:0001898 rdfs:label Increased red blood cell mass 红细胞数量增多 OFFICIAL en zh HP:0001899 rdfs:label Increased hematocrit 红细胞压积增高 OFFICIAL -en zh HP:0001900 rdfs:label Increased hemoglobin 血红蛋白增多 OFFICIAL +en zh HP:0001900 rdfs:label Increased circulating hemoglobin concentration 血红蛋白增多 CANDIDATE en zh HP:0001901 rdfs:label Polycythemia 红细胞增多症 OFFICIAL en zh HP:0001902 rdfs:label Giant platelets 巨血小板 OFFICIAL en zh HP:0001903 rdfs:label Anemia 贫血 OFFICIAL @@ -1992,7 +1992,7 @@ en zh HP:0002740 rdfs:label Recurrent E. coli infections 反复大肠杆菌感 en zh HP:0002741 rdfs:label Recurrent Serratia marcescens infections 反复粘质沙雷氏菌感染 OFFICIAL en zh HP:0002742 rdfs:label Recurrent Klebsiella infections 反复克雷伯杆菌感染 OFFICIAL en zh HP:0002743 rdfs:label Recurrent enteroviral infections 反复肠病毒感染 OFFICIAL -en zh HP:0002744 rdfs:label Bilateral cleft lip and palate 双侧唇腭裂 OFFICIAL +en zh HP:0002744 rdfs:label obsolete Bilateral cleft lip and palate 双侧唇腭裂 CANDIDATE en zh HP:0002745 rdfs:label Oral leukoplakia 口腔白斑 OFFICIAL en zh HP:0002747 rdfs:label Respiratory insufficiency due to muscle weakness 肌肉无力导致的呼吸功能不全 OFFICIAL en zh HP:0002748 rdfs:label Rickets 佝偻病 OFFICIAL @@ -2488,7 +2488,7 @@ en zh HP:0003448 rdfs:label Decreased sensory nerve conduction velocity 感觉 en zh HP:0003449 rdfs:label Cold-induced muscle cramps 冷刺激引起的肌肉痉挛 OFFICIAL en zh HP:0003450 rdfs:label Axonal regeneration 轴突再生 OFFICIAL en zh HP:0003451 rdfs:label Increased rate of premature chromosome condensation 早熟染色体凝缩率增高 OFFICIAL -en zh HP:0003452 rdfs:label Increased serum iron 血清铁离子增高 OFFICIAL +en zh HP:0003452 rdfs:label Increased circulating iron concentration 血清铁离子增高 CANDIDATE en zh HP:0003453 rdfs:label Antineutrophil antibody positivity 抗中性粒细胞抗体阳性 OFFICIAL en zh HP:0003454 rdfs:label Platelet antibody positive 血小板抗体阳性 OFFICIAL en zh HP:0003455 rdfs:label Elevated circulating long chain fatty acid concentration 长链脂肪酸水平升高 OFFICIAL @@ -2588,7 +2588,7 @@ en zh HP:0003621 rdfs:label Juvenile onset 青少年期发病 OFFICIAL en zh HP:0003623 rdfs:label Neonatal onset 新生儿期发病 OFFICIAL en zh HP:0003634 rdfs:label Amyoplasia 广泛肌肉发育不良 OFFICIAL en zh HP:0003635 rdfs:label Loss of subcutaneous adipose tissue in limbs 四肢皮下脂肪组织丢失 OFFICIAL -en zh HP:0003637 rdfs:label Reduced 4-Hydroxyphenylpyruvate dioxygenase level 4-羟基苯丙酮酸双加氧酶活性降低 OFFICIAL +en zh HP:0003637 rdfs:label Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity 4-羟基苯丙酮酸双加氧酶活性降低 CANDIDATE en zh HP:0003639 rdfs:label Elevated urinary epinephrine level 尿肾上腺素增高 CANDIDATE en zh HP:0003640 rdfs:label CNS foam cells 中枢神经系统泡沫细胞 OFFICIAL en zh HP:0003641 rdfs:label Hemoglobinuria 血红蛋白尿 OFFICIAL @@ -3112,7 +3112,7 @@ en zh HP:0004426 rdfs:label Abnormal cheek morphology 面颊形态异常 OFFICIA en zh HP:0004428 rdfs:label Elfin facies 小精灵脸 OFFICIAL en zh HP:0004429 rdfs:label Recurrent viral infections 反复病毒感染 OFFICIAL en zh HP:0004430 rdfs:label Severe combined immunodeficiency 重症联合免疫缺陷 OFFICIAL -en zh HP:0004431 rdfs:label Complement deficiency 补体缺陷 OFFICIAL +en zh HP:0004431 rdfs:label Reduced circulating complement concentration 补体缺陷 CANDIDATE en zh HP:0004432 rdfs:label Agammaglobulinemia 无丙种球蛋白血症 OFFICIAL en zh HP:0004433 rdfs:label Secretory IgA deficiency 分泌型IgA缺乏症 OFFICIAL en zh HP:0004434 rdfs:label Decreased circulating complement C8 concentration 血清补体C8降低 CANDIDATE @@ -3591,7 +3591,7 @@ en zh HP:0005280 rdfs:label Depressed nasal bridge 鼻梁塌陷 OFFICIAL en zh HP:0005281 rdfs:label Hypoplastic nasal bridge 鼻梁发育不全 OFFICIAL en zh HP:0005285 rdfs:label Absent nasal bridge 无鼻梁 OFFICIAL en zh HP:0005288 rdfs:label Abnormal nostril morphology 鼻孔异常 CANDIDATE -en zh HP:0005289 rdfs:label Abnormality of the nasolabial region 鼻唇区异常 OFFICIAL +en zh HP:0005289 rdfs:label Abnormal nasolabial region morphology 鼻唇区异常 CANDIDATE en zh HP:0005290 rdfs:label Internal carotid artery hypoplasia 颈内动脉发育不全 OFFICIAL en zh HP:0005291 rdfs:label Inflammatory arteriopathy 炎症性动脉病 OFFICIAL en zh HP:0005292 rdfs:label Intimal thickening in the coronary arteries 冠状动脉内膜增厚 OFFICIAL @@ -4197,13 +4197,13 @@ en zh HP:0006409 rdfs:label Progressive leg bowing 渐进式腿部弯曲 OFFICIA en zh HP:0006413 rdfs:label Broad tibial metaphyses 胫骨干骺端变宽 OFFICIAL en zh HP:0006414 rdfs:label Distal tibial bowing 胫骨远端弯曲 OFFICIAL en zh HP:0006415 rdfs:label Cortically dense long tubular bones 长管骨皮质密度增加 OFFICIAL -en zh HP:0006417 rdfs:label Broad femoral metaphyses 股骨干骺端变宽 OFFICIAL +en zh HP:0006417 rdfs:label Wide femoral metaphysis 股骨干骺端变宽 CANDIDATE en zh HP:0006420 rdfs:label Asymmetric radial dysplasia 不对称的桡骨发育不良 OFFICIAL en zh HP:0006423 rdfs:label Peg-like central prominence of distal tibial metaphyses 胫骨远端干骺端钉状中央突出 OFFICIAL en zh HP:0006424 rdfs:label Elongated radius 增长的桡骨 OFFICIAL en zh HP:0006426 rdfs:label Rudimentary to absent tibiae 胫骨发育不良以至缺如 OFFICIAL en zh HP:0006429 rdfs:label Broad femoral neck 股骨颈变宽 OFFICIAL -en zh HP:0006431 rdfs:label Proximal femoral metaphyseal abnormality 股骨近端干骺端异常 OFFICIAL +en zh HP:0006431 rdfs:label Abnormal proximal femoral metaphysis morphology 股骨近端干骺端异常 CANDIDATE en zh HP:0006432 rdfs:label Trapezoidal distal femoral condyles 股骨远端楔形髁突 OFFICIAL en zh HP:0006433 rdfs:label Radial dysplasia 桡骨发育不良 OFFICIAL en zh HP:0006434 rdfs:label Hypoplasia of proximal radius 近端桡骨发育低下 OFFICIAL @@ -5318,7 +5318,7 @@ en zh HP:0008414 rdfs:label Lumbar kyphosis in infancy 婴儿期腰椎后凸 OFF en zh HP:0008416 rdfs:label Six lumbar vertebrae 六块腰椎 OFFICIAL en zh HP:0008417 rdfs:label Vertebral hypoplasia 椎体发育不全 OFFICIAL en zh HP:0008418 rdfs:label Squared-off platyspondyly 方形扁平椎 OFFICIAL -en zh HP:0008419 rdfs:label Intervertebral disc degeneration 椎间盘退行性变 OFFICIAL +en zh HP:0008419 rdfs:label Intervertebral disk degeneration 椎间盘退行性变 CANDIDATE en zh HP:0008420 rdfs:label Punctate vertebral calcifications 椎体点状钙化 OFFICIAL en zh HP:0008421 rdfs:label Tall lumbar vertebral bodies 腰椎椎体的高度增加 OFFICIAL en zh HP:0008422 rdfs:label Vertebral wedging 椎体楔形变 OFFICIAL @@ -5382,9 +5382,9 @@ en zh HP:0008491 rdfs:label Premature anterior fontanel closure 前囟过早闭 en zh HP:0008494 rdfs:label Inferior lens subluxation 晶状体下部半脱位 OFFICIAL en zh HP:0008496 rdfs:label Multiple rows of eyelashes 多行睫 OFFICIAL en zh HP:0008497 rdfs:label Congenital craniofacial dysostosis 先天性颅面骨发育不全 OFFICIAL -en zh HP:0008498 rdfs:label No permanent dentition 无恒牙 OFFICIAL +en zh HP:0008498 rdfs:label obsolete No permanent dentition 无恒牙 CANDIDATE en zh HP:0008499 rdfs:label High hypermetropia 高度远视 OFFICIAL -en zh HP:0008501 rdfs:label Median cleft lip and palate 唇腭正中裂 OFFICIAL +en zh HP:0008501 rdfs:label obsolete Median cleft lip and palate 唇腭正中裂 CANDIDATE en zh HP:0008504 rdfs:label Moderate sensorineural hearing impairment 中度感音神经性听力损失 OFFICIAL en zh HP:0008507 rdfs:label Static ophthalmoparesis 静态眼肌瘫痪 OFFICIAL en zh HP:0008509 rdfs:label Aged leonine appearance 衰老的狮面面容 OFFICIAL @@ -5434,7 +5434,7 @@ en zh HP:0008628 rdfs:label Abnormality of the stapes 镫骨异常 OFFICIAL en zh HP:0008629 rdfs:label Pulsatile tinnitus 搏动性耳鸣 OFFICIAL en zh HP:0008631 rdfs:label Ureteral dysgenesis 输尿管发育不良 OFFICIAL en zh HP:0008633 rdfs:label Agonadism 无性腺症 OFFICIAL -en zh HP:0008635 rdfs:label Hypertrophy of the urinary bladder 膀胱肥大 OFFICIAL +en zh HP:0008635 rdfs:label Urinary bladder wall hypertrophy 膀胱肥大 CANDIDATE en zh HP:0008636 rdfs:label obsolete Lobular glomerulopathy 小叶性肾小球肾炎 CANDIDATE en zh HP:0008639 rdfs:label Gonadal hypoplasia 性腺发育不良 OFFICIAL en zh HP:0008640 rdfs:label Congenital macroorchidism 先天性大睾丸 OFFICIAL @@ -6117,7 +6117,7 @@ en zh HP:0009591 rdfs:label Abnormality of the vestibulocochlear nerve 前庭耳 en zh HP:0009592 rdfs:label Astrocytoma 星形细胞瘤 OFFICIAL en zh HP:0009593 rdfs:label Peripheral schwannoma 周围神经鞘瘤 OFFICIAL en zh HP:0009594 rdfs:label Retinal hamartoma 视网膜错构瘤 OFFICIAL -en zh HP:0009595 rdfs:label Occasional neurofibromas 偶发的神经纤维瘤 OFFICIAL +en zh HP:0009595 rdfs:label obsolete Occasional neurofibromas 偶发的神经纤维瘤 CANDIDATE en zh HP:0009596 rdfs:label Aplasia of the proximal phalanx of the 2nd finger 第二指近节指骨不发育 OFFICIAL en zh HP:0009597 rdfs:label Short proximal phalanx of the 2nd finger 第二指近节指骨短 OFFICIAL en zh HP:0009598 rdfs:label Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal 第二指近节指骨与掌骨关节融合 OFFICIAL @@ -6401,7 +6401,7 @@ en zh HP:0009918 rdfs:label Ectopia pupillae 瞳孔异位 OFFICIAL en zh HP:0009919 rdfs:label Retinoblastoma 视网膜母细胞瘤 OFFICIAL en zh HP:0009920 rdfs:label Nevus of Ota 上腭部褐青色痣、眼皮肤黑素细胞增生病 OFFICIAL en zh HP:0009921 rdfs:label Duane anomaly Duane 异常 OFFICIAL -en zh HP:0009922 rdfs:label Vascular remnant arising from the disc 玻璃体动脉续存症 OFFICIAL +en zh HP:0009922 rdfs:label Vascular remnant arising from the disk 玻璃体动脉续存症 CANDIDATE en zh HP:0009924 rdfs:label Aplasia/Hypoplasia involving the nose 鼻发育不全／未发育 OFFICIAL en zh HP:0009926 rdfs:label Epiphora 泪液分泌增加 OFFICIAL en zh HP:0009927 rdfs:label Aplasia of the nose 鼻发育不全 OFFICIAL @@ -7037,7 +7037,7 @@ en zh HP:0010582 rdfs:label Irregular epiphyses 不规则骨骺 OFFICIAL en zh HP:0010583 rdfs:label Ivory epiphyses 象牙化骨骺 OFFICIAL en zh HP:0010584 rdfs:label Pseudoepiphyses 假骨骺 OFFICIAL en zh HP:0010585 rdfs:label Small epiphyses 小骨骺 OFFICIAL -en zh HP:0010587 rdfs:label Triangular epiphyses 三角形骨骺 OFFICIAL +en zh HP:0010587 rdfs:label Triangular epiphysis 三角形骨骺 CANDIDATE en zh HP:0010588 rdfs:label Premature epimetaphyseal fusion 干骺端融合过早 OFFICIAL en zh HP:0010590 rdfs:label Abnormality of the distal femoral epiphysis 股骨远端骨骺异常 OFFICIAL en zh HP:0010591 rdfs:label Abnormality of the proximal tibial epiphysis 胫骨近端骨骺异常 OFFICIAL @@ -7086,7 +7086,7 @@ en zh HP:0010636 rdfs:label Schizencephaly 脑裂畸形 OFFICIAL en zh HP:0010637 rdfs:label Conjunctival amyloidosis 结膜淀粉样变性 OFFICIAL en zh HP:0010638 rdfs:label Elevated alkaline phosphatase of hepatic origin 肝源性碱性磷酸酶升高 OFFICIAL en zh HP:0010639 rdfs:label Elevated alkaline phosphatase of bone origin 骨源性碱性磷酸酶升高 OFFICIAL -en zh HP:0010640 rdfs:label Abnormality of the nasal cavity 鼻腔异常 OFFICIAL +en zh HP:0010640 rdfs:label Abnormal nasal cavity morphology 鼻腔异常 CANDIDATE en zh HP:0010641 rdfs:label Abnormality of the midnasal cavity 鼻中腔异常 OFFICIAL en zh HP:0010643 rdfs:label Midnasal atresia 中鼻道闭锁 OFFICIAL en zh HP:0010644 rdfs:label Midnasal stenosis 中鼻道狭窄 OFFICIAL @@ -7533,12 +7533,12 @@ en zh HP:0011108 rdfs:label Recurrent sinusitis 复发性鼻窦炎 OFFICIAL en zh HP:0011109 rdfs:label Chronic sinusitis 慢性鼻窦炎 OFFICIAL en zh HP:0011110 rdfs:label Recurrent tonsillitis 复发性扁桃体炎 OFFICIAL en zh HP:0011111 rdfs:label Abnormal immune serum protein physiology 血清免疫蛋白功能异常 CANDIDATE -en zh HP:0011112 rdfs:label Abnormality of serum cytokine level 血清细胞因子水平异常 OFFICIAL +en zh HP:0011112 rdfs:label Abnormal circulating cytokine concentration 血清细胞因子水平异常 CANDIDATE en zh HP:0011113 rdfs:label Abnormality of cytokine secretion 细胞因子分泌异常 OFFICIAL en zh HP:0011114 rdfs:label Defective production of NFKB1-dependent cytokines NFKB1依赖的细胞因子产生缺陷 OFFICIAL -en zh HP:0011115 rdfs:label Abnormality of chemokine secretion 趋化因子分泌异常 OFFICIAL -en zh HP:0011116 rdfs:label Abnormality of interferon secretion 干扰素分泌异常 OFFICIAL -en zh HP:0011117 rdfs:label Abnormality of interleukin secretion 白介素分泌异常 OFFICIAL +en zh HP:0011115 rdfs:label Abnormal circulating chemokine concentration 趋化因子分泌异常 CANDIDATE +en zh HP:0011116 rdfs:label Abnormal circulating interferon concentration 干扰素分泌异常 CANDIDATE +en zh HP:0011117 rdfs:label Abnormal circulating interleukin concentration 白介素分泌异常 CANDIDATE en zh HP:0011118 rdfs:label Abnormality of tumor necrosis factor secretion 肿瘤坏死因子分泌异常 OFFICIAL en zh HP:0011119 rdfs:label Abnormal nasal dorsum morphology 鼻嵴异常 CANDIDATE en zh HP:0011120 rdfs:label Concave nasal ridge 凹鼻嵴 OFFICIAL @@ -8909,7 +8909,7 @@ en zh HP:0012513 rdfs:label Upper limb pain 上肢疼痛 OFFICIAL en zh HP:0012514 rdfs:label Lower limb pain 下肢疼痛 OFFICIAL en zh HP:0012515 rdfs:label Hip flexor weakness 屈髋无力 OFFICIAL en zh HP:0012516 rdfs:label Tetralogy of Fallot with pulmonary atresia 法洛四联症伴肺动脉闭锁 OFFICIAL -en zh HP:0012517 rdfs:label Reduced catalase level 过氧化氢酶活性降低 OFFICIAL +en zh HP:0012517 rdfs:label Reduced circulating catalase activity 过氧化氢酶活性降低 CANDIDATE en zh HP:0012518 rdfs:label Abnormal circle of Willis morphology Willis环形态异常 OFFICIAL en zh HP:0012519 rdfs:label Hypoplastic posterior communicating artery 后交通动脉发育不全 OFFICIAL en zh HP:0012520 rdfs:label Dilation of Virchow-Robin spaces 血管周围间隙扩大 OFFICIAL @@ -9318,7 +9318,7 @@ en zh HP:0020059 rdfs:label Increased red blood cell count 红细胞计数增高 en zh HP:0020060 rdfs:label Decreased red blood cell count 红细胞计数减低 OFFICIAL en zh HP:0020061 rdfs:label Abnormal hemoglobin concentration 血红蛋白浓度异常 OFFICIAL en zh HP:0020062 rdfs:label Decreased hemoglobin concentration 血红蛋白浓度减低 OFFICIAL -en zh HP:0020063 rdfs:label Increased hemoglobin concentration 血红蛋白浓度增高 OFFICIAL +en zh HP:0020063 rdfs:label obsolete Increased hemoglobin concentration 血红蛋白浓度增高 CANDIDATE en zh HP:0020064 rdfs:label Abnormal eosinophil count 嗜酸性粒细胞计数异常 OFFICIAL en zh HP:0020071 rdfs:label Viremia 病毒血症 OFFICIAL en zh HP:0020072 rdfs:label Persistent EBV viremia 持续性EBV病毒血症 OFFICIAL @@ -9415,7 +9415,7 @@ en zh HP:0020171 rdfs:label Decreased blood drug concentration 血药浓度降 en zh HP:0020172 rdfs:label Adverse drug response 药物不良反应 OFFICIAL en zh HP:0020173 rdfs:label Reduced drug efficacy 药物疗效降低 OFFICIAL en zh HP:0020174 rdfs:label Refractory drug response 药物治疗应答无能 OFFICIAL -en zh HP:0020175 rdfs:label Reduced cholinesterase level 胆碱酯酶水平降低 OFFICIAL +en zh HP:0020175 rdfs:label Reduced circulating cholinesterase activity 胆碱酯酶水平降低 CANDIDATE en zh HP:0020176 rdfs:label Cholesterol crystalluria 胆固醇结晶尿 OFFICIAL en zh HP:0020177 rdfs:label Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells CD8阳性的终末效应性α-β T细胞比例异常 OFFICIAL en zh HP:0020178 rdfs:label Abnormal dendritic cell count 树突状细胞计数异常 OFFICIAL @@ -9442,7 +9442,7 @@ en zh HP:0020198 rdfs:label Abnormal circulating 18-hydroxycorticosterone level en zh HP:0020199 rdfs:label Decreased circulating 18-hydroxycortisone level 血液 18-羟基皮质酮水平降低 OFFICIAL en zh HP:0020200 rdfs:label Increased circulating 18-hydroxycortisone level 血液18-羟基皮质酮水平升高 OFFICIAL en zh HP:0020201 rdfs:label Abnormal sarcomere morphology 肌节形态异常 OFFICIAL -en zh HP:0020202 rdfs:label Abnormal Z disc morphology Z盘形态异常 OFFICIAL +en zh HP:0020202 rdfs:label Abnormal Z disk morphology Z盘形态异常 CANDIDATE en zh HP:0020203 rdfs:label Z-band streaming Z带漂移 OFFICIAL en zh HP:0020204 rdfs:label Tubulointerstitial bacterial infiltration 肾小管间质细菌浸润 OFFICIAL en zh HP:0020205 rdfs:label Tubulointerstitial fungal infiltration 肾小管间质真菌浸润 OFFICIAL @@ -10403,7 +10403,7 @@ en zh HP:0030268 rdfs:label Hyperplastic callus formation 增生性愈伤组织 en zh HP:0030269 rdfs:label Increased circulating insulin-like growth factor 1 concentration 循环胰岛素样因子1水平升高 OFFICIAL en zh HP:0030270 rdfs:label Elevated red cell adenosine deaminase activity 红细胞腺苷脱氨酶活性增高 CANDIDATE en zh HP:0030271 rdfs:label Reduced erythrocyte 2,3-diphosphoglycerate concentration 红细胞 2，3-二磷酸甘油酸浓度减低 OFFICIAL -en zh HP:0030272 rdfs:label Abnormal erythrocyte enzyme level 红细胞酶水平异常 OFFICIAL +en zh HP:0030272 rdfs:label Abnormal erythrocyte enzyme concentration or activity 红细胞酶水平异常 CANDIDATE en zh HP:0030273 rdfs:label Reduced red cell adenosine deaminase level 红细胞腺苷脱氨酶活性降低 OFFICIAL en zh HP:0030274 rdfs:label Accessory scrotum 副阴囊 OFFICIAL en zh HP:0030275 rdfs:label Ectopic scrotum 异位阴囊 OFFICIAL @@ -10427,7 +10427,7 @@ en zh HP:0030295 rdfs:label Metaphyseal chondromatosis of femur 股骨干骺端 en zh HP:0030296 rdfs:label Metaphyseal chondromatosis of radius 桡骨干骺端软骨瘤病 OFFICIAL en zh HP:0030297 rdfs:label Metaphyseal chondromatosis of ulna 尺骨干骺端软骨瘤病 OFFICIAL en zh HP:0030298 rdfs:label Metaphyseal chondromatosis of humerus 肱骨干骺端软骨瘤病 OFFICIAL -en zh HP:0030299 rdfs:label Distal femoral metaphyseal abnormality 股骨远侧干骺端异常 OFFICIAL +en zh HP:0030299 rdfs:label Abnormal distal femoral metaphysis morphology 股骨远侧干骺端异常 CANDIDATE en zh HP:0030300 rdfs:label 10 pairs of ribs 10对肋骨 OFFICIAL en zh HP:0030301 rdfs:label Abnormality of the anterior commissure 前连合异常 OFFICIAL en zh HP:0030302 rdfs:label Agenesis of the anterior commissure 前连合缺如 OFFICIAL @@ -10475,7 +10475,7 @@ en zh HP:0030350 rdfs:label Erythematous papule 红色丘疹 OFFICIAL en zh HP:0030351 rdfs:label Urticarial plaque 荨麻疹性斑块 OFFICIAL en zh HP:0030352 rdfs:label Abnormal serum insulin-like growth factor 1 level 血清胰岛素样生长因子-1（IGF1）水平异常 OFFICIAL en zh HP:0030353 rdfs:label Decreased serum insulin-like growth factor 1 血清胰岛素样生长因子-1（IGF1）水平降低 OFFICIAL -en zh HP:0030354 rdfs:label Abnormal circulating interferon concentration 血清干扰素水平异常 CANDIDATE +en zh HP:0030354 rdfs:label obsolete Abnormal circulating interferon concentration 血清干扰素水平异常 CANDIDATE en zh HP:0030355 rdfs:label Abnormal circulating interferon-gamma concentration 血清干扰素-γ水平异常 CANDIDATE en zh HP:0030356 rdfs:label Increased circulating interferon-gamma concentration 血清干扰素-γ水平增加 CANDIDATE en zh HP:0030357 rdfs:label Small cell lung carcinoma 小细胞肺癌 OFFICIAL @@ -10878,7 +10878,7 @@ en zh HP:0030778 rdfs:label Modic type III vertebral endplate changes Modic III en zh HP:0030779 rdfs:label Ethmocephaly 猿头畸形 OFFICIAL en zh HP:0030780 rdfs:label Abnormality of the protein C anticoagulant pathway 蛋白 C 抗凝途径异常 OFFICIAL en zh HP:0030781 rdfs:label Increased circulating free fatty acid level 循环系统内游离脂肪酸水平增高 OFFICIAL -en zh HP:0030782 rdfs:label Abnormal circulating interleukin concentration 循环白介素水平异常 OFFICIAL +en zh HP:0030782 rdfs:label obsolete Abnormal circulating interleukin concentration 循环白介素水平异常 CANDIDATE en zh HP:0030783 rdfs:label Increased circulating interleukin 6 concentration 循环白细胞介素6水平升高 OFFICIAL en zh HP:0030784 rdfs:label Anomic aphasia 命名性失语症 OFFICIAL en zh HP:0030785 rdfs:label Mediastinal cystic lymphangioma 纵隔囊性淋巴管瘤 OFFICIAL @@ -11180,7 +11180,7 @@ en zh HP:0031096 rdfs:label Delayed vertebral ossification 椎骨骨化延迟 OF en zh HP:0031097 rdfs:label Abnormal thyroid-stimulating hormone level 促甲状腺激素水平异常 OFFICIAL en zh HP:0031098 rdfs:label Decreased thyroid-stimulating hormone level 促甲状腺激素水平降低 OFFICIAL en zh HP:0031099 rdfs:label Abnormal circulating inhibin level 循环抑制素水平异常 OFFICIAL -en zh HP:0031100 rdfs:label Decreased inhibin B level 抑制素B水平降低 OFFICIAL +en zh HP:0031100 rdfs:label Decreased circulating inhibin B concentration 抑制素B水平降低 CANDIDATE en zh HP:0031101 rdfs:label Abnormal circulating antimullerian hormone concentration 血液抗苗勒氏管激素水平异常 OFFICIAL en zh HP:0031102 rdfs:label Increased circulating antimullerian hormone concentration 抗苗勒氏管激素水平升高 CANDIDATE en zh HP:0031103 rdfs:label Decreased cirrculating antimullerian hormone circulation 抗苗勒氏管激素水平降低 CANDIDATE @@ -11213,7 +11213,7 @@ en zh HP:0031134 rdfs:label Cor triatrium sinister 左侧三房心 OFFICIAL en zh HP:0031135 rdfs:label Triggered by physical trauma 物理创伤引发 OFFICIAL en zh HP:0031136 rdfs:label Decreased acrosin in sperm head 精子头顶体酶降低 OFFICIAL en zh HP:0031137 rdfs:label Storage in hepatocytes 肝细胞储积 OFFICIAL -en zh HP:0031138 rdfs:label Abnormal B-type natriuretic peptide concentration B型钠尿肽水平异常 CANDIDATE +en zh HP:0031138 rdfs:label Abnormal circulating B-type natriuretic peptide concentration B型钠尿肽水平异常 CANDIDATE en zh HP:0031139 rdfs:label Frog-leg posture 蛙足姿势 OFFICIAL en zh HP:0031140 rdfs:label Abnormal liver sonography 肝脏超声异常 OFFICIAL en zh HP:0031141 rdfs:label Increased hepatic echogenicity 肝回声增强 OFFICIAL @@ -12290,7 +12290,7 @@ en zh HP:0032268 rdfs:label Dural tail sign 脑膜尾征 OFFICIAL en zh HP:0032269 rdfs:label Lemon sign 柠檬征 OFFICIAL en zh HP:0032270 rdfs:label Optic nerve tram-track sign 视神经轨道征 OFFICIAL en zh HP:0032271 rdfs:label Extrapulmonary tuberculosis 肺外结核 OFFICIAL -en zh HP:0032272 rdfs:label Elevated urinary N-acetylaspartic acid level 尿N-乙酰天门冬氨酸水平升高 OFFICIAL +en zh HP:0032272 rdfs:label obsolete Elevated urinary N-acetylaspartic acid level 尿N-乙酰天门冬氨酸水平升高 CANDIDATE en zh HP:0032273 rdfs:label Increased circulating N-acetylaspartic acid concentration 血N-乙酰基天冬氨酸浓度升高 OFFICIAL en zh HP:0032274 rdfs:label Increased CSF N-acetylaspartic acid concentration 脑脊液N-乙酰天门冬氨酸水平升高 OFFICIAL en zh HP:0032275 rdfs:label Recurrent shingles 复发性带状疱疹 OFFICIAL @@ -12532,7 +12532,7 @@ en zh HP:0032525 rdfs:label Exacerbated by acetylcholinesterase inhibitor exposu en zh HP:0032526 rdfs:label Ameliorated by acetylcholinesterase inhibitor 乙酰胆碱酯酶抑制剂治疗后改善 OFFICIAL en zh HP:0032527 rdfs:label Inferiorly positioned umbilicus 低位脐 OFFICIAL en zh HP:0032528 rdfs:label Elevated urinary 4-hydroxybutyric acid 尿4-羟基丁酸升高 OFFICIAL -en zh HP:0032530 rdfs:label Decreased succinic semialdehyde dehydrogenase level 琥珀酸半醛脱氢酶水平降低 OFFICIAL +en zh HP:0032530 rdfs:label Decreased tissue succinic semialdehyde dehydrogenase activity 琥珀酸半醛脱氢酶水平降低 CANDIDATE en zh HP:0032531 rdfs:label Elevated CSF gamma-aminobutyric acid concentration 脑脊液γ-氨基丁酸浓度升高 OFFICIAL en zh HP:0032532 rdfs:label Elevated CSF 4-hydroxybutyric acid concentration 脑脊液4-羟基丁酸浓度升高 OFFICIAL en zh HP:0032533 rdfs:label Elevated circulating acetone concentration 血液丙酮升高 OFFICIAL @@ -14426,7 +14426,7 @@ en zh HP:0040053 rdfs:label Long lower eyelashes 长下睫 OFFICIAL en zh HP:0040054 rdfs:label Short upper eyelashes 短上睫 OFFICIAL en zh HP:0040055 rdfs:label Short lower eyelashes 短下睫 OFFICIAL en zh HP:0040056 rdfs:label Absent upper eyelashes 上睫缺如 OFFICIAL -en zh HP:0040057 rdfs:label Abnormality of nasal hair 鼻毛异常 OFFICIAL +en zh HP:0040057 rdfs:label Abnormal nasal hair morphology 鼻毛异常 CANDIDATE en zh HP:0040059 rdfs:label Calcification of ribs 肋骨钙化 OFFICIAL en zh HP:0040061 rdfs:label Osteosclerosis of the radius 桡骨骨硬化 OFFICIAL en zh HP:0040062 rdfs:label Slender radius 细长桡骨 OFFICIAL @@ -14484,7 +14484,7 @@ en zh HP:0040126 rdfs:label Abnormal circulating vitamin B12 concentration 血 en zh HP:0040127 rdfs:label Abnormal sweat homeostasis 汗液稳态异常 OFFICIAL en zh HP:0040128 rdfs:label Abnormal sweat electrolytes 汗液电解质异常 OFFICIAL en zh HP:0040129 rdfs:label Abnormal nerve conduction velocity 神经传导速度异常 OFFICIAL -en zh HP:0040130 rdfs:label Abnormal serum iron concentration 血清铁异常 OFFICIAL +en zh HP:0040130 rdfs:label Abnormal circulating iron concentration 血清铁异常 CANDIDATE en zh HP:0040131 rdfs:label Abnormal motor nerve conduction velocity 运动神经传导速度异常 OFFICIAL en zh HP:0040132 rdfs:label Abnormal sensory nerve conduction velocity 感觉神经传导速度异常 OFFICIAL en zh HP:0040133 rdfs:label Abnormal circulating ferritin concentration 血清铁蛋白异常 OFFICIAL @@ -14495,7 +14495,7 @@ en zh HP:0040138 rdfs:label Mucinous histiocytosis 黏液性组织细胞增多 en zh HP:0040139 rdfs:label Lipogranulomatosis 脂肪肉芽肿病 OFFICIAL en zh HP:0040140 rdfs:label Degeneration of the striatum 纹状体退行性变 OFFICIAL en zh HP:0040141 rdfs:label Tardive dyskinesia 迟发性运动障碍 OFFICIAL -en zh HP:0040142 rdfs:label Reduced 5-oxoprolinase level 5-羟脯氨酸酶缺乏症 OFFICIAL +en zh HP:0040142 rdfs:label Reduced circulating 5-oxoprolinase activity 5-羟脯氨酸酶缺乏症 CANDIDATE en zh HP:0040143 rdfs:label Dystopic os odontoideum 齿突异位 OFFICIAL en zh HP:0040144 rdfs:label L-2-hydroxyglutaric aciduria L-2-羟基戊二酸尿症 OFFICIAL en zh HP:0040145 rdfs:label Dicarboxylic acidemia 二羧酸血症 OFFICIAL @@ -14646,7 +14646,7 @@ en zh HP:0040299 rdfs:label Decreased circulating free fatty acid level 循环 en zh HP:0040300 rdfs:label Abnormal circulating free fatty acid concentration 游离脂肪酸水平异常 OFFICIAL en zh HP:0040301 rdfs:label Increased urinary glycerol 尿液甘油增高 OFFICIAL en zh HP:0040302 rdfs:label Hyperglycerolemia 高甘油血症 OFFICIAL -en zh HP:0040303 rdfs:label Decreased serum iron 血清铁下降 OFFICIAL +en zh HP:0040303 rdfs:label Decreased circulating iron concentration 血清铁下降 CANDIDATE en zh HP:0040304 rdfs:label Duplication of the sella turcica 蝶鞍重复 OFFICIAL en zh HP:0040305 rdfs:label Increased male libido 男性性欲亢进 OFFICIAL en zh HP:0040306 rdfs:label Decreased male libido 男性性欲低下 OFFICIAL @@ -15801,7 +15801,7 @@ en zh HP:0100958 rdfs:label Narrow foramen obturatorium 闭孔狭窄 OFFICIAL en zh HP:0100959 rdfs:label Dense metaphyseal bands 干骺端致密带 OFFICIAL en zh HP:0100960 rdfs:label Lateral ventricular asymmetry 侧脑室不对称 OFFICIAL en zh HP:0100961 rdfs:label Enlarged hippocampus 海马区体积扩大 OFFICIAL -en zh HP:0100962 rdfs:label Shyness 害羞 OFFICIAL +en zh HP:0100962 rdfs:label Excessive shyness 害羞 CANDIDATE en zh HP:0100963 rdfs:label Hyperesthesia 感觉过敏 OFFICIAL en zh HP:0200000 rdfs:label Dysharmonic skeletal maturation 骨龄发育不一致 CANDIDATE en zh HP:0200001 rdfs:label Dysharmonic accelerated bone age 发育异常的骨龄加速 OFFICIAL @@ -16018,13 +16018,13 @@ en zh HP:0410188 rdfs:label Decreased glucose-6-phosphate dehydrogenase level in en zh HP:0410189 rdfs:label Increased glucose-6-phosphate dehydrogenase level in red blood cells 红细胞6-磷酸葡萄糖的脱氢酶升高 OFFICIAL en zh HP:0410190 rdfs:label Decreased glucose-6-phosphate dehydrogenase level in leukocytes 白细胞6-磷酸葡萄糖脱氢酶降低 OFFICIAL en zh HP:0410191 rdfs:label Increased glucose-6-phosphate dehydrogenase level in leukocytes 白细胞6-磷酸葡萄糖脱氢酶升高 OFFICIAL -en zh HP:0410192 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level 尿苷二磷酸葡萄糖4位异构酶异常 OFFICIAL -en zh HP:0410193 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level in plasma 血浆尿苷二磷酸葡萄糖4位异构酶异常 OFFICIAL -en zh HP:0410194 rdfs:label Increased uridine diphosphate glucose-4-epimerase level in plasma 血浆尿苷二磷酸葡萄糖4位异构酶升高 OFFICIAL -en zh HP:0410195 rdfs:label Decreased uridine diphosphate glucose-4-epimerase level in plasma 血浆尿苷二磷酸葡萄糖4位异构酶降低 OFFICIAL -en zh HP:0410196 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells 红细胞尿苷二磷酸葡萄糖4位异构酶异常 OFFICIAL -en zh HP:0410197 rdfs:label Increased uridine diphosphate glucose-4-epimerase level in red blood cells 红细胞尿苷二磷酸葡萄糖4位异构酶升高 OFFICIAL -en zh HP:0410198 rdfs:label Decreased uridine diphosphate glucose-4-epimerase level in red blood cells 红细胞尿苷二磷酸葡萄糖4位异构酶降低 OFFICIAL +en zh HP:0410192 rdfs:label obsolete Abnormal uridine diphosphate glucose-4-epimerase level 尿苷二磷酸葡萄糖4位异构酶异常 CANDIDATE +en zh HP:0410193 rdfs:label Abnormal circulating UDP glucose-4-epimerase concentration 血浆尿苷二磷酸葡萄糖4位异构酶异常 CANDIDATE +en zh HP:0410194 rdfs:label Increased circulating UDP glucose-4-epimerase concentration 血浆尿苷二磷酸葡萄糖4位异构酶升高 CANDIDATE +en zh HP:0410195 rdfs:label Decreased circulating UDP glucose-4-epimerase concentration 血浆尿苷二磷酸葡萄糖4位异构酶降低 CANDIDATE +en zh HP:0410196 rdfs:label Abnormal erythrocyte UDP glucose-4-epimerase concentration 红细胞尿苷二磷酸葡萄糖4位异构酶异常 CANDIDATE +en zh HP:0410197 rdfs:label Increased erythrocyte UDP glucose-4-epimerase concentration 红细胞尿苷二磷酸葡萄糖4位异构酶升高 CANDIDATE +en zh HP:0410198 rdfs:label Decreased erythrocyte UDP glucose-4-epimerase concentration 红细胞尿苷二磷酸葡萄糖4位异构酶降低 CANDIDATE en zh HP:0410199 rdfs:label Increased CSF urate concentration 脑脊液中尿酸盐浓度升高 OFFICIAL en zh HP:0410200 rdfs:label Positive meconium barbiturate test 胎粪巴比妥酸盐试验阳性 OFFICIAL en zh HP:0410201 rdfs:label Positive hair barbiturate test 毛发巴比妥酸盐试验阳性 OFFICIAL @@ -16484,7 +16484,7 @@ en zh HP:0550004 rdfs:label Verruca plana 扁平疣 OFFICIAL en zh HP:0550005 rdfs:label Bilateral basilar pulmonary fibrosis 双侧基底部肺纤维化 OFFICIAL en zh HP:3000002 rdfs:label Abnormal inner ear epithelium morphology 内耳上皮细胞形态异常 OFFICIAL en zh HP:3000003 rdfs:label Abnormal mandibular ramus morphology 下颌支形态异常 OFFICIAL -en zh HP:3000004 rdfs:label Abnormality of frontalis muscle belly 额肌肌腹异常 OFFICIAL +en zh HP:3000004 rdfs:label Abnormal frontalis muscle physiology 额肌肌腹异常 CANDIDATE en zh HP:3000005 rdfs:label Abnormality of masseter muscle 咬肌异常 OFFICIAL en zh HP:3000006 rdfs:label Abnormality of medial pterygoid muscle 内侧翼状肌异常 OFFICIAL en zh HP:3000007 rdfs:label Abnormality of mentalis muscle 颏肌异常 OFFICIAL @@ -16584,7 +16584,7 @@ en zh HP:4000023 rdfs:label Anti-laminin gamma1 antibody positivity 抗层粘连 en zh HP:4000024 rdfs:label Anti-laminin antibody positivity 抗层粘连蛋白抗体阳性 OFFICIAL en zh HP:4000025 rdfs:label Anti-integrin antibody positivity 抗整合素抗体阳性 OFFICIAL en zh HP:4000026 rdfs:label Anti-transglutaminase 6 antibody 抗谷氨酰胺转氨酶6抗体 OFFICIAL -en zh HP:4000027 rdfs:label anti-LAD-1 antibody positivity 抗LAD-1抗体阳性 OFFICIAL +en zh HP:4000027 rdfs:label Anti-LAD-1 antibody positivity 抗LAD-1抗体阳性 OFFICIAL en zh HP:4000028 rdfs:label Anti-LABD97 antibody positivity 抗LABD97抗体阳性 OFFICIAL en zh HP:4000029 rdfs:label Antigliadin antibody positivity 抗醇溶蛋白抗体阳性 OFFICIAL en zh HP:4000030 rdfs:label Anti-reticulin antibody positivity 抗网硬蛋白抗体 OFFICIAL diff --git a/src/translations/hp-zh.babelon.owl b/src/translations/hp-zh.babelon.owl index 93410423f..f684253d9 100644 --- a/src/translations/hp-zh.babelon.owl +++ b/src/translations/hp-zh.babelon.owl @@ -9,8 +9,8 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:babelon="https://w3id.org/babelon/"> - - 2024-03-06 + + 2024-04-03 @@ -3906,9 +3906,9 @@ 鼻后孔的异常 en - Abnormality of the choanae + Abnormal choanae morphology zh - OFFICIAL + CANDIDATE 鼻细长 @@ -6894,9 +6894,9 @@ 运动刻板 en - Abnormal repetitive mannerisms + Motor stereotypy zh - CANDIDATE + OFFICIAL 脱抑制 @@ -16638,9 +16638,9 @@ 血红蛋白增多 en - Increased hemoglobin + Increased circulating hemoglobin concentration zh - OFFICIAL + CANDIDATE 红细胞增多症 @@ -23982,9 +23982,9 @@ 双侧唇腭裂 en - Bilateral cleft lip and palate + obsolete Bilateral cleft lip and palate zh - OFFICIAL + CANDIDATE 口腔白斑 @@ -29934,9 +29934,9 @@ 血清铁离子增高 en - Increased serum iron + Increased circulating iron concentration zh - OFFICIAL + CANDIDATE 抗中性粒细胞抗体阳性 @@ -31134,9 +31134,9 @@ 4-羟基苯丙酮酸双加氧酶活性降低 en - Reduced 4-Hydroxyphenylpyruvate dioxygenase level + Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity zh - OFFICIAL + CANDIDATE 尿肾上腺素增高 @@ -37422,9 +37422,9 @@ 补体缺陷 en - Complement deficiency + Reduced circulating complement concentration zh - OFFICIAL + CANDIDATE 无丙种球蛋白血症 @@ -43170,9 +43170,9 @@ 鼻唇区异常 en - Abnormality of the nasolabial region + Abnormal nasolabial region morphology zh - OFFICIAL + CANDIDATE 颈内动脉发育不全 @@ -50442,9 +50442,9 @@ 股骨干骺端变宽 en - Broad femoral metaphyses + Wide femoral metaphysis zh - OFFICIAL + CANDIDATE 不对称的桡骨发育不良 @@ -50514,9 +50514,9 @@ 股骨近端干骺端异常 en - Proximal femoral metaphyseal abnormality + Abnormal proximal femoral metaphysis morphology zh - OFFICIAL + CANDIDATE 股骨远端楔形髁突 @@ -63894,9 +63894,9 @@ 椎间盘退行性变 en - Intervertebral disc degeneration + Intervertebral disk degeneration zh - OFFICIAL + CANDIDATE 椎体点状钙化 @@ -64662,9 +64662,9 @@ 无恒牙 en - No permanent dentition + obsolete No permanent dentition zh - OFFICIAL + CANDIDATE 高度远视 @@ -64686,9 +64686,9 @@ 唇腭正中裂 en - Median cleft lip and palate + obsolete Median cleft lip and palate zh - OFFICIAL + CANDIDATE 中度感音神经性听力损失 @@ -65286,9 +65286,9 @@ 膀胱肥大 en - Hypertrophy of the urinary bladder + Urinary bladder wall hypertrophy zh - OFFICIAL + CANDIDATE 小叶性肾小球肾炎 @@ -73482,9 +73482,9 @@ 偶发的神经纤维瘤 en - Occasional neurofibromas + obsolete Occasional neurofibromas zh - OFFICIAL + CANDIDATE 第二指近节指骨不发育 @@ -76890,9 +76890,9 @@ 玻璃体动脉续存症 en - Vascular remnant arising from the disc + Vascular remnant arising from the disk zh - OFFICIAL + CANDIDATE 鼻发育不全／未发育 @@ -84522,9 +84522,9 @@ 三角形骨骺 en - Triangular epiphyses + Triangular epiphysis zh - OFFICIAL + CANDIDATE 干骺端融合过早 @@ -85110,9 +85110,9 @@ 鼻腔异常 en - Abnormality of the nasal cavity + Abnormal nasal cavity morphology zh - OFFICIAL + CANDIDATE 鼻中腔异常 @@ -90474,9 +90474,9 @@ 血清细胞因子水平异常 en - Abnormality of serum cytokine level + Abnormal circulating cytokine concentration zh - OFFICIAL + CANDIDATE 细胞因子分泌异常 @@ -90510,9 +90510,9 @@ 趋化因子分泌异常 en - Abnormality of chemokine secretion + Abnormal circulating chemokine concentration zh - OFFICIAL + CANDIDATE 干扰素分泌异常 @@ -90522,9 +90522,9 @@ 干扰素分泌异常 en - Abnormality of interferon secretion + Abnormal circulating interferon concentration zh - OFFICIAL + CANDIDATE 白介素分泌异常 @@ -90534,9 +90534,9 @@ 白介素分泌异常 en - Abnormality of interleukin secretion + Abnormal circulating interleukin concentration zh - OFFICIAL + CANDIDATE 肿瘤坏死因子分泌异常 @@ -106986,9 +106986,9 @@ 过氧化氢酶活性降低 en - Reduced catalase level + Reduced circulating catalase activity zh - OFFICIAL + CANDIDATE Willis环形态异常 @@ -111894,9 +111894,9 @@ 血红蛋白浓度增高 en - Increased hemoglobin concentration + obsolete Increased hemoglobin concentration zh - OFFICIAL + CANDIDATE 嗜酸性粒细胞计数异常 @@ -113058,9 +113058,9 @@ 胆碱酯酶水平降低 en - Reduced cholinesterase level + Reduced circulating cholinesterase activity zh - OFFICIAL + CANDIDATE 胆固醇结晶尿 @@ -113382,9 +113382,9 @@ Z盘形态异常 en - Abnormal Z disc morphology + Abnormal Z disk morphology zh - OFFICIAL + CANDIDATE Z带漂移 @@ -124914,9 +124914,9 @@ 红细胞酶水平异常 en - Abnormal erythrocyte enzyme level + Abnormal erythrocyte enzyme concentration or activity zh - OFFICIAL + CANDIDATE 红细胞腺苷脱氨酶活性降低 @@ -125202,9 +125202,9 @@ 股骨远侧干骺端异常 en - Distal femoral metaphyseal abnormality + Abnormal distal femoral metaphysis morphology zh - OFFICIAL + CANDIDATE 10对肋骨 @@ -125778,7 +125778,7 @@ 血清干扰素水平异常 en - Abnormal circulating interferon concentration + obsolete Abnormal circulating interferon concentration zh CANDIDATE @@ -130614,9 +130614,9 @@ 循环白介素水平异常 en - Abnormal circulating interleukin concentration + obsolete Abnormal circulating interleukin concentration zh - OFFICIAL + CANDIDATE 循环白细胞介素6水平升高 @@ -134238,9 +134238,9 @@ 抑制素B水平降低 en - Decreased inhibin B level + Decreased circulating inhibin B concentration zh - OFFICIAL + CANDIDATE 血液抗苗勒氏管激素水平异常 @@ -134634,7 +134634,7 @@ B型钠尿肽水平异常 en - Abnormal B-type natriuretic peptide concentration + Abnormal circulating B-type natriuretic peptide concentration zh CANDIDATE @@ -147558,9 +147558,9 @@ 尿N-乙酰天门冬氨酸水平升高 en - Elevated urinary N-acetylaspartic acid level + obsolete Elevated urinary N-acetylaspartic acid level zh - OFFICIAL + CANDIDATE 血N-乙酰基天冬氨酸浓度升高 @@ -150462,9 +150462,9 @@ 琥珀酸半醛脱氢酶水平降低 en - Decreased succinic semialdehyde dehydrogenase level + Decreased tissue succinic semialdehyde dehydrogenase activity zh - OFFICIAL + CANDIDATE 脑脊液γ-氨基丁酸浓度升高 @@ -173190,9 +173190,9 @@ 鼻毛异常 en - Abnormality of nasal hair + Abnormal nasal hair morphology zh - OFFICIAL + CANDIDATE 肋骨钙化 @@ -173886,9 +173886,9 @@ 血清铁异常 en - Abnormal serum iron concentration + Abnormal circulating iron concentration zh - OFFICIAL + CANDIDATE 运动神经传导速度异常 @@ -174018,9 +174018,9 @@ 5-羟脯氨酸酶缺乏症 en - Reduced 5-oxoprolinase level + Reduced circulating 5-oxoprolinase activity zh - OFFICIAL + CANDIDATE 齿突异位 @@ -175830,9 +175830,9 @@ 血清铁下降 en - Decreased serum iron + Decreased circulating iron concentration zh - OFFICIAL + CANDIDATE 蝶鞍重复 @@ -189690,9 +189690,9 @@ 害羞 en - Shyness + Excessive shyness zh - OFFICIAL + CANDIDATE 感觉过敏 @@ -192294,9 +192294,9 @@ 尿苷二磷酸葡萄糖4位异构酶异常 en - Abnormal uridine diphosphate glucose-4-epimerase level + obsolete Abnormal uridine diphosphate glucose-4-epimerase level zh - OFFICIAL + CANDIDATE 血浆尿苷二磷酸葡萄糖4位异构酶异常 @@ -192306,9 +192306,9 @@ 血浆尿苷二磷酸葡萄糖4位异构酶异常 en - Abnormal uridine diphosphate glucose-4-epimerase level in plasma + Abnormal circulating UDP glucose-4-epimerase concentration zh - OFFICIAL + CANDIDATE 血浆尿苷二磷酸葡萄糖4位异构酶升高 @@ -192318,9 +192318,9 @@ 血浆尿苷二磷酸葡萄糖4位异构酶升高 en - Increased uridine diphosphate glucose-4-epimerase level in plasma + Increased circulating UDP glucose-4-epimerase concentration zh - OFFICIAL + CANDIDATE 血浆尿苷二磷酸葡萄糖4位异构酶降低 @@ -192330,9 +192330,9 @@ 血浆尿苷二磷酸葡萄糖4位异构酶降低 en - Decreased uridine diphosphate glucose-4-epimerase level in plasma + Decreased circulating UDP glucose-4-epimerase concentration zh - OFFICIAL + CANDIDATE 红细胞尿苷二磷酸葡萄糖4位异构酶异常 @@ -192342,9 +192342,9 @@ 红细胞尿苷二磷酸葡萄糖4位异构酶异常 en - Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells + Abnormal erythrocyte UDP glucose-4-epimerase concentration zh - OFFICIAL + CANDIDATE 红细胞尿苷二磷酸葡萄糖4位异构酶升高 @@ -192354,9 +192354,9 @@ 红细胞尿苷二磷酸葡萄糖4位异构酶升高 en - Increased uridine diphosphate glucose-4-epimerase level in red blood cells + Increased erythrocyte UDP glucose-4-epimerase concentration zh - OFFICIAL + CANDIDATE 红细胞尿苷二磷酸葡萄糖4位异构酶降低 @@ -192366,9 +192366,9 @@ 红细胞尿苷二磷酸葡萄糖4位异构酶降低 en - Decreased uridine diphosphate glucose-4-epimerase level in red blood cells + Decreased erythrocyte UDP glucose-4-epimerase concentration zh - OFFICIAL + CANDIDATE 脑脊液中尿酸盐浓度升高 @@ -197886,9 +197886,9 @@ 额肌肌腹异常 en - Abnormality of frontalis muscle belly + Abnormal frontalis muscle physiology zh - OFFICIAL + CANDIDATE 咬肌异常 @@ -199086,7 +199086,7 @@ 抗LAD-1抗体阳性 en - anti-LAD-1 antibody positivity + Anti-LAD-1 antibody positivity zh OFFICIAL