gyrate atrophy

Preferred Label : gyrate atrophy;

MeSH definition : Progressive, autosomal recessive, diffuse atrophy of the choroid, pigment epithelium, and sensory retina that begins in childhood.;

MeSH synonym : atrophy, gyrate; ornithinemia with gyrate atrophy; hyperornithinemia with gyrate atrophy of choroid and retina; gyrate atrophy of choroid and retina; gyrate atrophy of the choroid and retina;

CISMeF synonym : atrophies, gyrate; gyrate atrophies;

Related MeSH term : Ornithine aminotransferase deficiency; Deficiency, Ornithine Aminotransferase; Ornithine-Delta-Aminotransferase Deficiency; Deficiency, Ornithine-Delta-Aminotransferase; Ornithine Delta Aminotransferase Deficiency; Ornithine Keto Acid Aminotransferase Deficiency; Ornithine Ketoacid Aminotransferase Deficiency; OAT Deficiency; Deficiency, OAT; OKT Deficiency; Deficiency, OKT;

MeSH annotation : a hered eye dis; /congen permitted: read MeSH definition;

Wikipedia link : https://en.wikipedia.org/wiki/Gyrate atrophy;

Details

Origin ID

D015799;

UMLS CUI

C0018425;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Gyrate atrophy of the choroid and retina [MedDRA LLT]
- Ornithine-delta-aminotransferase deficiency [ICD-11 More detail]
- ornithine aminotransferase [ORDO Gene]
- ornithine aminotransferase [HGNC gene]
Currated CISMeF NLP mapping
- Gyrate Atrophy [NCIt concept]
- Gyrate atrophy (disorder) [SNOMED CT concept]
- Gyrate atrophy of choroid and retina [OMIM Phenotype]
- Ornithine oxo-acid aminotransferase deficiency (disorder) [SNOMED CT concept]
- gyrate atrophy [DO Concept]
- gyrate atrophy [Disease (Nov.)]
- gyrate atrophy of the choroid and retina [SNOMED Notion]
- hyperornithinemia, nos [SNOMED Notion]
DO Cross reference
- gyrate atrophy [DO Concept]
HPO term
- Hyperornithinemia [HPO term]
Manual NTBT mappings (CISMeF)
- Disorder of ornithine or proline metabolism [ORDO Disease]
- Metabolic disease with cataract [ORDO Disease]
- Metabolic disease with pigmentary retinitis [ORDO Disease]
- Rare hereditary metabolic disease with peripheral neuropathy [ORDO Disease]
- Unclassified familial retinal dystrophy [ORDO Disease]
ORDO relation(s)
- Gyrate atrophy of choroid and retina [ORDO Disease]
Record concept(s)
- Ornithine aminotransferase deficiency [MeSH concept]
- gyrate atrophy [MeSH concept]
Related MeSH Supplementary Concept(s)
- moloney syndrome [MeSH Supplementary Concept]
SNOMED CT : Morphologiquement associé
- atrophy [MeSH Descriptor]
See also inter- (CISMeF)
- Hyperornithinaemia [ICD-11 More detail]
- ornithine aminotransferase deficiency [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Gyrate Atrophy [NCIt concept]
- Gyrate atrophy (disorder) [SNOMED CT concept]
- Gyrate atrophy of choroid and retina [OMIM Phenotype]
- Gyrate atrophy of the choroid and retina [MedDRA LLT]
- gyrate atrophy [DO Concept]
- gyrate atrophy [Disease (Nov.)]
- gyrate atrophy of the choroid and retina [SNOMED Notion]
Validated automatic mappings to BTNT
- Gyrate atrophy of choroid and retina [ORDO Disease]

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