EC23.20 Oculocutaneous albinism
International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01
Oculocutaneous albinism is a genetically heterogeneous congenital disorder characterised by decreased or absent pigmentation in the hair, skin, and eyes.
synonyms
- Oculocutaneous albinism
- OCA - [Oculocutaneous albinism]
- Oculocutaneous albinism type 1A
- Tyrosinase-negative oculocutaneous albinism
- Albino
- OCA1A - [Oculocutaneous albinism type 1A]
- 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
- Rufous oculocutaneous albinism
- Red oculocutaneous albinism
- Xanthous oculocutaneous albinism
- Xanthism
- OCA3 - [Oculocutaneous albinism type 3]
- 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
- Hermansky-Pudlak syndrome type 2
- HPS 2 - [Hermansky-Pudlak syndrome type 2] (MIM 608233)
- Hermansky-Pudlak syndrome with pulmonary fibrosis
- Hermansky-Pudlak syndrome without pulmonary fibrosis
- HPS - [Hermansky-Pudlak syndrome] without pulmonary fibrosis
- Chédiak-Higashi syndrome
- Chediak-Higashi-Steinbrinck syndrome
- Chediak-Steinbrinck syndrome
- Béguez César syndrome
- Steinbrinck anomaly
- Oculocerebral syndrome with hypopigmentation
- Cross syndrome
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