macular dystrophy, retinal, 2

Preferred Label : macular dystrophy, retinal, 2;

MeSH note : mutation in PROM1;

Is substance : O;

Origin ID

C562746;

UMLS CUI

C4749334;

Currated CISMeF NLP mapping
- Bull's eye macular dystrophy (disorder) [SNOMED CT concept]
- Macular dystrophy, retinal, 2 [OMIM Phenotype]
- Retinal macular dystrophy type 2 [ORDO Disease]
- Retinal macular dystrophy type 2 (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- corneal dystrophies, hereditary [MeSH Descriptor]
Record concept(s)
- macular dystrophy, retinal, 2 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bull's eye macular dystrophy (disorder) [SNOMED CT concept]
- Macular dystrophy, retinal, 2 [OMIM Phenotype]
- Retinal macular dystrophy type 2 [ORDO Disease]
- Retinal macular dystrophy type 2 (disorder) [SNOMED CT concept]