Preferred Label : Oculocutaneous albinism type 1B;
ICD-11 definition : OCA-1B is due to partial absence of TYR with some enzymatic production of tyrosinase
and a less severe clinical phenotype than OCA-1A.;
ICD-11 synonym : OCA1B - [Oculocutaneous albinism type 1B];
ICD-11 acronym : OCA1B;
Origin ID : 1233842528;
UMLS CUI : C1847024;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
OCA-1B is due to partial absence of TYR with some enzymatic production of tyrosinase
and a less severe clinical phenotype than OCA-1A.
