Childhood-onset autosomal dominant optic atrophy

Preferred Label : Childhood-onset autosomal dominant optic atrophy;

ICD-11 synonym : Autosomal dominant optic atrophy, Kjer type; Autosomal dominant optic atrophy, classic type; Kjer disease;

Details

Origin ID

1745857753;

UMLS CUI

C0338508;

Currated CISMeF NLP mapping
- Autosomal dominant optic atrophy classic form (disorder) [SNOMED CT concept]
- Autosomal dominant optic atrophy, classic form [ORDO Disease]
- Childhood-onset autosomal dominant optic atrophy (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant optic atrophy [ORDO Disease]
- Autosomal dominant optic atrophy classic form (disorder) [SNOMED CT concept]
- Autosomal dominant optic atrophy, classic form [ORDO Disease]
- Optic Atrophy 1 [NCIt concept]
- Optic atrophy 1 [OMIM Phenotype]
- dominant hereditary optic atrophy [SNOMED Notion]
- optic atrophy, autosomal dominant [MeSH Descriptor]
- optic atrophy, autosomal dominant [MeSH concept]
Validated automatic mappings to NTBT
- Optic atrophy 1 [OMIM Phenotype]
- optic atrophy, autosomal dominant [MeSH Descriptor]

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