Autosomal dominant optic atrophy and cataract

Preferred Label : Autosomal dominant optic atrophy and cataract;

ICD-11 definition : Autosomal dominant optic atrophy and cataract is a genetic eye disease characterised by optic atrophy and cataract that generally appears during childhood. Moderate extrapyramidal signs may also be present.;

Details

Origin ID

1789029893;

UMLS CUI

C1833809;

Currated CISMeF NLP mapping
- Autosomal dominant optic atrophy and cataract [ORDO Disease]
- Autosomal dominant optic atrophy and cataract (disorder) [SNOMED CT concept]
- Optic atrophy 3, autosomal dominant [OMIM Phenotype]
- Optic atrophy and cataract, autosomal dominant [MeSH concept]
- optic atrophy 3 [DO Concept]
- optic atrophy and cataract, autosomal dominant [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Autosomal dominant optic atrophy and peripheral neuropathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant optic atrophy and cataract [ORDO Disease]
- Autosomal dominant optic atrophy and cataract (disorder) [SNOMED CT concept]
- Autosomal dominant optic atrophy and peripheral neuropathy [ORDO Disease]
- Optic atrophy 3, autosomal dominant [OMIM Phenotype]
- Optic atrophy and cataract, autosomal dominant [MeSH concept]
- optic atrophy 3 [DO Concept]
- optic atrophy and cataract, autosomal dominant [MeSH Supplementary Concept]

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