Preferred Label : Oculocutaneous albinism type 1A;
ICD-11 definition : OCA-1 is caused by mutation in the tyrosinase gene (TYR). OCA-1A is due to complete
absence of TYR and a more severe clinical phenotype than OCA-1B.;
ICD-11 synonym : OCA1A - [Oculocutaneous albinism type 1A]; Albino; Tyrosinase-negative oculocutaneous albinism;
ICD-11 acronym : OCA1A;
ICD-11 inclusion : Albino;
Origin ID : 1168847652;
Currated CISMeF NLP mapping
- See also inter- (CISMeF)
- Validated automatic mappings to NTBT
OCA-1 is caused by mutation in the tyrosinase gene (TYR). OCA-1A is due to complete
absence of TYR and a more severe clinical phenotype than OCA-1B.
