EC23.20

ICD-11 MMS 2026-01

Oculocutaneous albinism

Description

Oculocutaneous albinism is a genetically heterogeneous congenital disorder characterised by decreased or absent pigmentation in the hair, skin, and eyes.

Index terms

  • Oculocutaneous albinism
  • OCA - [Oculocutaneous albinism]
  • Oculocutaneous albinism type 1A
Show allHide
  • Albino
  • OCA1A - [Oculocutaneous albinism type 1A]
  • Tyrosinase-negative oculocutaneous albinism
  • Oculocutaneous albinism type 1B
  • OCA1B - [Oculocutaneous albinism type 1B]
  • Yellow oculocutaneous albinism
  • Oculocutaneous albinism, Amish type
  • Minimal pigment oculocutaneous albinism
  • Platinum oculocutaneous albinism
  • Temperature sensitive oculocutaneous albinism
  • OCA1-TS - [Temperature-sensitive oculocutaneous albinism]
  • Oculocutaneous albinism type 2
  • OCA2 - [Oculocutaneous albinism type 2]
  • Tyrosinase-positive oculocutaneous albinism
  • Brown oculocutaneous albinism
  • Oculocutaneous albinism type 3
  • OCA3 - [Oculocutaneous albinism type 3]
  • Red oculocutaneous albinism
  • Rufous oculocutaneous albinism
  • Xanthism
  • Xanthous oculocutaneous albinism
  • Oculocutaneous albinism type 4
  • OCA4 - [Oculocutaneous albinism type 4]
  • Hermansky-Pudlak syndrome
  • Albinism with haemorrhagic diathesis and pigmented reticuloendothelial cells
  • HPS - [Hermansky-Pudlak syndrome]
  • Hermansky-Pudlak syndrome type 7
  • HPS7 - [Hermansky-Pudlak syndrome type 7] (MIM 614076)
  • Hermansky-Pudlak syndrome type 8
  • HPS8 - [Hermansky-Pudlak syndrome type 8] (MIM 614077)
  • Hermansky-Pudlak syndrome type 9
  • Hermansky-Pudlak syndrome with neutropaenia
  • HPS 2 - [Hermansky-Pudlak syndrome type 2] (MIM 608233)
  • Hermansky-Pudlak syndrome type 2
  • Hermansky-Pudlak syndrome with pulmonary fibrosis
  • Hermansky-Pudlak syndrome without pulmonary fibrosis
  • HPS - [Hermansky-Pudlak syndrome] without pulmonary fibrosis
  • Chédiak-Higashi syndrome
  • Béguez César syndrome
  • Chediak-Higashi-Steinbrinck syndrome
  • Chediak-Steinbrinck syndrome
  • Steinbrinck anomaly
  • Oculocerebral syndrome with hypopigmentation
  • Cross syndrome

Sibling codes

  • EC23.2Y – Other specified genetically-determined hypomelanotic disorders

Foundation entity

Oculocutaneous albinism – http://id.who.int/icd/entity/1189424097

Part of: EC23.2: Albinism or other specified genetically-determined hypomelanotic disorders › EC23: Genetic disorders of skin pigmentation › 14: Diseases of the skin