oculocutaneous albinism type 1

Preferred Label : oculocutaneous albinism type 1;

CISMeF synonym : albinism, oculocutaneous, type IA;

CISMeF acronym : OCA1A;

MeSH synonym : albinism 1; albinism I; oculocutaneous albinism, type I;

MeSH hyponym : Oculocutaneous Albinism, Tyrosinase-Negative; Oculocutaneous albinism type 1A; Oculocutaneous albinism, tyrosinase negative;

Details

Origin ID

C537728;

UMLS CUI

C0268494;

Automatic exact mappings (from CISMeF team)
- TYR wt Allele [NCIt concept]
- tyrosinase [ORDO Gene]
Currated CISMeF NLP mapping
- Albinism, oculocutaneous, type ia [OMIM Phenotype]
- Oculocutaneous albinism type 1 [ORDO Disease]
- Oculocutaneous albinism type 1 (disorder) [SNOMED CT concept]
- Oculocutaneous albinism type 1A [ORDO Disease]
- Tyrosinase-negative oculocutaneous albinism (disorder) [SNOMED CT concept]
- oculocutaneous albinism type I [Disease (Nov.)]
- tyrosinase-negative oculocutaneous albinism [SNOMED Notion]
MeSH term(s) associated for indexing
- albinism, oculocutaneous [MeSH Descriptor]
Record concept(s)
- Albinism, Oculocutaneous, Type IA [MeSH concept]
- Oculocutaneous albinism type 1 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Albinism, oculocutaneous, type ia [OMIM Phenotype]
- Oculocutaneous albinism type 1 [ORDO Disease]
- Oculocutaneous albinism type 1 (disorder) [SNOMED CT concept]
- Oculocutaneous albinism type 1A [ORDO Disease]
- oculocutaneous albinism type I [Disease (Nov.)]
- oculocutaneous albinism type IA [DO Concept]
- oculocutaneous albinism type IA [Disease (Nov.)]
- tyrosinase-negative oculocutaneous albinism [SNOMED Notion]
Validated automatic mappings to BTNT
- Oculocutaneous Albinism Type 1A [NCIt concept]
- Oculocutaneous albinism type 1A [ICD-11 More detail]
- oculocutaneous albinism type IA [DO Concept]
- oculocutaneous albinism type IA [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

Main resources

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