Vitelliform Macular Dystrophy

Preferred Label : Vitelliform Macular Dystrophy;

NCIt definition : A rare genetic disorder characterized by macular degeneration in the retina resulting in progressive loss of central vision with retention of the peripheral vision. It may be of early onset, autosomal dominant inherited and caused by mutations in the BEST1 gene (BEST disease) or late onset, caused by mutations in the PRPH2 gene.;

Details

Origin ID

C118788;

UMLS CUI

C0339510;

Automatic exact mappings (from CISMeF team)
- Best disease [ICD-11 More detail]
- Macular dystrophy, vitelliform [OMIM phenotypic series]
Currated CISMeF NLP mapping
- Best vitelliform macular dystrophy [ORDO Disease]
- Vitelliform dystrophy (disorder) [SNOMED CT concept]
- Vitelliform macular dystrophy [MedDRA LLT]
- Vitelliform-like macular lesions [HPO term]
- vitelliform macular dystrophy [DO Concept]
- vitelliform macular dystrophy [MeSH concept]
- vitelliform macular dystrophy [MeSH Descriptor]
Has associated anatomic sites
- Eye [NCIt concept]
- Retina [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Best vitelliform macular dystrophy (disorder) [SNOMED CT concept]
- Best's disease [MedDRA LLT]
- Macular dystrophy, vitelliform, 2 [OMIM Phenotype]
- Vitelliform dystrophy (disorder) [SNOMED CT concept]
- Vitelliform macular dystrophy [MedDRA LLT]
- vitelliform dystrophy [SNOMED Notion]
- vitelliform macular dystrophy [DO Concept]
- vitelliform macular dystrophy [MeSH Descriptor]
- vitelliform macular dystrophy [MeSH concept]
Validated automatic mappings to BTNT
- Macular dystrophy, vitelliform, 2 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
related_to_genetic_biomarker
- BEST1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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