Preferred Label : Oculocutaneous albinism type 3;
ICD-11 definition : OCA3 is caused by a mutation in the TYRP1 gene and is commonly called rufous oculocutaneous
albinism (ROCA). It occurs principally in Sub-Saharan Africa and is characterized
by bright copper-red colouration of the skin and hair and by dilution of the colour
of the irides.;
ICD-11 synonym : OCA3 - [Oculocutaneous albinism type 3]; Red oculocutaneous albinism; Xanthism; Rufous oculocutaneous albinism; Xanthous oculocutaneous albinism;
ICD-11 acronym : OCA3;
Origin ID : 1565320806;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
OCA3 is caused by a mutation in the TYRP1 gene and is commonly called rufous oculocutaneous
albinism (ROCA). It occurs principally in Sub-Saharan Africa and is characterized
by bright copper-red colouration of the skin and hair and by dilution of the colour
of the irides.
