leber congenital amaurosis 14

Preferred Label : leber congenital amaurosis 14;

CISMeF synonym : retinal dystrophy, Early-Onset severe, Lrat-Related; retinitis pigmentosa, juvenile, Lrat-Related;

Details

Origin ID

C567636;

UMLS CUI

C2750063;

Currated CISMeF NLP mapping
- Leber congenital amaurosis 14 [DO Concept]
- Leber congenital amaurosis 14 [OMIM Phenotype]
MeSH term(s) associated for indexing
- leber congenital amaurosis [MeSH Descriptor]
- retinitis pigmentosa [MeSH Descriptor]
Record concept(s)
- leber congenital amaurosis 14 [MeSH concept]
- retinal dystrophy, Early-Onset severe, Lrat-Related [MeSH concept]
- retinitis pigmentosa, juvenile, Lrat-Related [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leber congenital amaurosis 14 [OMIM Phenotype]
- Leber congenital amaurosis 14 [DO Concept]

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