Leber Congenital Amaurosis

Preferred Label : Leber Congenital Amaurosis;

NCIt definition : A congenital retinopathy that is associated with mutation(s) in at least eighteen genes, typically characterized by severe visual impairment.;

Details

Origin ID

C129075;

UMLS CUI

C0339527;

Currated CISMeF NLP mapping
- Leber congenital amaurosis [ORDO Disease]
- Leber congenital amaurosis [DO Concept]
- Leber congenital amaurosis [ICD-11 More detail]
- Leber congenital amaurosis [OMIM phenotypic series]
- Leber congenital amaurosis [Disease (Nov.)]
- Leber's amaurosis (disorder) [SNOMED CT concept]
- Leber's congenital amaurosis [MedDRA Preferred Term]
- leber congenital amaurosis [MeSH Descriptor]
- leber congenital amaurosis [MeSH concept]
DO Cross reference
- Leber congenital amaurosis [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leber congenital amaurosis [ORDO Disease]
- Leber congenital amaurosis [DO Concept]
- Leber congenital amaurosis [Disease (Nov.)]
- Leber's amaurosis (disorder) [SNOMED CT concept]
- Leber's congenital amaurosis [MedDRA Preferred Term]
- leber congenital amaurosis [MeSH Descriptor]
- leber congenital amaurosis [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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