oculocutaneous albinism type 2

Preferred Label : oculocutaneous albinism type 2;

MeSH synonym : tyrosinase-positive oculocutaneous albinism; albinoidism; oculocutaneous albinism tyrosinase positive; albinism 2; albinism, oculocutaneous, type 2; albinism, oculocutaneous, type II; albinism II; OCA2; oculocutaneous albinism, type II; oculocutaneous albinism, Tyrosinase-Positive;

Details

Origin ID

C537730;

UMLS CUI

C0268495;

Automatic exact mappings (from CISMeF team)
- Albinoidism (disorder) [Inactive SNOMED CT concept]
- OCA2 Gene [NCIt concept]
- OCA2 melanosomal transmembrane protein [ORDO Gene]
- Oca2 melanosomal transmembrane protein [OMIM gene]
- Oculocutaneous albinism type 2 [ICD-11 More detail]
- Tyrosinase-positive oculocutaneous albinism [ICD-11 More detail]
- albinoidism, nos [SNOMED Notion]
Currated CISMeF NLP mapping
- Albinism, oculocutaneous, type II [OMIM Phenotype]
- Oculocutaneous albinism type 2 [ORDO Disease]
- Tyrosinase-positive oculocutaneous albinism (disorder) [SNOMED CT concept]
- oculocutaneous albinism type II [DO Concept]
- oculocutaneous albinism type II [Disease (Nov.)]
- tyrosinase-positive oculocutaneous albinism [SNOMED Notion]
MeSH term(s) associated for indexing
- albinism, oculocutaneous [MeSH Descriptor]
ORDO relation(s)
- Oculocutaneous albinism type 2 [ORDO Disease]
Record concept(s)
- Oculocutaneous albinism type 2 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Albinism, oculocutaneous, type II [OMIM Phenotype]
- Oculocutaneous albinism type 2 [ORDO Disease]
- Tyrosinase-positive oculocutaneous albinism (disorder) [SNOMED CT concept]
- oculocutaneous albinism type II [DO Concept]
- oculocutaneous albinism type II [Disease (Nov.)]
- tyrosinase-positive oculocutaneous albinism [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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