optic atrophy, X-linked - CISMeF

CISMeF

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Optic atrophy, X-linkedMeSH Supplementary Concept

Preferred Label : optic atrophy, X-linked;

MeSH synonym : optic atrophy, non-Leber type, with early onset; optic atrophy 2;

Details

Origin ID

C537125;

UMLS CUI

C1839576;

Automatic exact mappings (from CISMeF team)
- Atelosteogenesis type II [ORDO Disease]
- Atelosteogenesis, type II [OMIM Phenotype]
- X-linked recessive optic atrophy [ORDO Disease]
CISMeF manual mappings
- Early-onset X-linked optic atrophy [ORDO Disease]
Currated CISMeF NLP mapping
- Early-onset X-linked optic atrophy (disorder) [SNOMED CT concept]
- Optic atrophy 2 [OMIM Phenotype]
- X-linked optic atrophy (disorder) [SNOMED CT concept]
- optic atrophy 2 [DO Concept]
MeSH term(s) associated for indexing
- genetic diseases, X-linked [MeSH Descriptor]
- optic atrophy [MeSH Descriptor]
Record concept(s)
- Optic atrophy, X-linked [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Early-onset X-linked optic atrophy [ORDO Disease]
- Early-onset X-linked optic atrophy (disorder) [SNOMED CT concept]
- Optic atrophy 2 [OMIM Phenotype]

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19/05/2024

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