Temperature sensitive oculocutaneous albinism

Preferred Label : Temperature sensitive oculocutaneous albinism;

ICD-11 definition : This type of OCA is characterized by white hair in the warmer areas (scalp and axillae) and progressively darker hair in the cooler areas (extremities) of the body. Tyrosinase assay demonstrates a loss of activity above 35-37 degrees Celsius.;

ICD-11 synonym : OCA1-TS - [Temperature-sensitive oculocutaneous albinism]; Temperature-sensitive oculocutaneous albinism;

ICD-11 acronym : OCA1-TS;

Details

Origin ID

1954386024;

UMLS CUI

C1847132;

Automatic exact mappings (from CISMeF team)
- Albinism, oculocutaneous, type ib [OMIM Phenotype]
- Temperature-sensitive oculocutaneous albinism (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Temperature-sensitive oculocutaneous albinism type 1 [ORDO Disease]
- albinism, oculocutaneous, type I, Temperature-Sensitive [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Temperature-sensitive oculocutaneous albinism type 1 [ORDO Disease]
- albinism, oculocutaneous, type I, Temperature-Sensitive [MeSH concept]
- albinism, oculocutaneous, type I, Temperature-Sensitive [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients