Oculocutaneous albinism type 2

Preferred Label : Oculocutaneous albinism type 2;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0532191;

UMLS CUI

C0268495;

Automatic exact mappings (from CISMeF team)
- Albinoidism (disorder) [Inactive SNOMED CT concept]
- Oculocutaneous albinism type 2 [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 [Disease (Nov.)]
- oculocutaneous albinism type II [DO Concept]
- tyrosinase-positive oculocutaneous albinism [SNOMED Notion]
Related record
- oculocutaneous albinism type 2 [MeSH Supplementary 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]