Autosomal Dominant Optic Atrophy

Preferred Label : Autosomal Dominant Optic Atrophy;

NCIt definition : An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss.;

Details

Origin ID

C84577;

UMLS CUI

C4551508;

Automatic exact mappings (from CISMeF team)
- Autosomal-Dominant optic atrophy [ICD-11 More detail]
Currated CISMeF NLP mapping
- Autosomal dominant optic atrophy [ORDO Disease]
- Dominant hereditary optic atrophy (disorder) [SNOMED CT concept]
- Optic atrophy 1 [OMIM Phenotype]
- autosomal dominant optic atrophy [Disease (Nov.)]
- dominant hereditary optic atrophy [SNOMED Notion]
- optic atrophy, autosomal dominant [MeSH Descriptor]
- optic atrophy, autosomal dominant [MeSH concept]
Has associated anatomic sites
- Eye [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dominant hereditary optic atrophy (disorder) [SNOMED CT concept]
Validated automatic mappings to BTNT
- Autosomal dominant optic atrophy classic form (disorder) [SNOMED CT concept]
- Autosomal dominant optic atrophy plus syndrome [ORDO Disease]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
- Rare Lesion [NCIt concept]

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