oculocutaneous albinism, type IV

Preferred Label : oculocutaneous albinism, type IV;

MeSH note : mutation in SLC45A2;

MeSH synonym : albinism, oculocutaneous, type IV; Oculocutaneous albinism, type 4;

Détails

Origin ID

C564696;

UMLS CUI

C1847836;

Automatic exact mappings (from CISMeF team)
- Oculocutaneous albinism type 4 [ICD-11 More detail]
Currated CISMeF NLP mapping
- Albinism, oculocutaneous, type iv [OMIM Phenotype]
- Oculocutaneous albinism type 4 [ORDO Disease]
- Oculocutaneous albinism type 4 (disorder) [SNOMED CT concept]
- oculocutaneous albinism type IV [DO Concept]
- oculocutaneous albinism type IV [Disease (Nov.)]
MeSH term(s) associated for indexing
- albinism, oculocutaneous [MeSH Descriptor]
Record concept(s)
- oculocutaneous albinism, type IV [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Albinism, oculocutaneous, type iv [OMIM Phenotype]
- Oculocutaneous albinism type 4 [ORDO Disease]
- Oculocutaneous albinism type 4 (disorder) [SNOMED CT concept]

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