amaurosis congenita of leber, type 1

Preferred Label : amaurosis congenita of leber, type 1;

MeSH synonym : leber congenital amaurosis, type 1; retinal blindness, congenital; amaurosis congenita of leber I; leber congenital amaurosis 1;

Details

Origin ID

C536600;

UMLS CUI

C2931258;

Automatic exact mappings (from CISMeF team)
- Leber's amaurosis (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Leber congenital amaurosis 1 [DO Concept]
- Leber congenital amaurosis 1 [OMIM Phenotype]
MeSH term(s) associated for indexing
- leber congenital amaurosis [MeSH Descriptor]
Record concept(s)
- Amaurosis congenita of Leber, type 1 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leber congenital amaurosis 1 [OMIM Phenotype]
- Leber congenital amaurosis 1 [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients