tyrosinase-positive oculocutaneous albinism

Preferred Label : tyrosinase-positive oculocutaneous albinism;

Origin ID

D6-A2414;

UMLS CUI

C0268495;

Automatic exact mappings (from CISMeF team)
- Tyrosinase-positive oculocutaneous albinism [ICD-11 More detail]
- albinism, oculocutaneous [MeSH Descriptor]
Currated CISMeF NLP mapping
- Albinism, oculocutaneous, type II [OMIM Phenotype]
- Oculocutaneous albinism type 2 [MeSH concept]
- Oculocutaneous albinism type 2 [ORDO Disease]
- Tyrosinase-positive oculocutaneous albinism (disorder) [SNOMED CT concept]
- albinism, Tyrosinase-Positive [MeSH concept]
- oculocutaneous albinism type 2 [MeSH Supplementary Concept]
- oculocutaneous albinism type II [Disease (Nov.)]
- oculocutaneous albinism type II [DO Concept]
ICD-10 exact mapping(s)
- Albinism [ICD-10 Sub-category (who)]
Metaterm(s)
- dermatology [CISMeF Metaterm]
- genetics [CISMeF Metaterm]
- metabolism [CISMeF Metaterm]
- ophthalmology [CISMeF Metaterm]
SNOMED CT concept
- Tyrosinase-positive oculocutaneous albinism (disorder) [SNOMED CT 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]
- Oculocutaneous albinism type 2 [MeSH concept]
- Tyrosinase-positive oculocutaneous albinism (disorder) [SNOMED CT concept]
- oculocutaneous albinism type 2 [MeSH Supplementary Concept]
- oculocutaneous albinism type II [Disease (Nov.)]
- oculocutaneous albinism type II [DO Concept]