OMOP Concept 4273682
Oculocutaneous albinism
StandardConditionSNOMED63844009Disorder
Maps from
6
Descendants
19
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
6 source codes normalize to Oculocutaneous albinism via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 132464 | Oculocutaneous albinism | Non-standard |
| CIEL | 148092 | Autosomal dominant oculocutaneous albinism | Non-standard |
| ICD10CM | E70.32 | Oculocutaneous albinism | Non-standard |
| ICD10CM | E70.328 | Other oculocutaneous albinism | Non-standard |
| ICD10CM | E70.329 | Oculocutaneous albinism, unspecified | Non-standard |
| MeSH | D016115 | Albinism, Oculocutaneous | Non-standard |
Synonyms
Alternative names recorded for Oculocutaneous albinism across source vocabularies.
- albinismo oculocutáneo
- albinismo oculocutáneo (trastorno)
- albinismo perfecto completo
- albinismo total
- albinismo universal
- albinismo universal completo
- Albinismus totalis
- Albinismus universalis
- Complete perfect albinism
- Complete universal albinism
- OCA - Oculocutaneous albinism
- Oculocutaneous albinism (disorder)
- Total albinism
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(55)Roll up to these when you need a wider cohort.
- 1Albinism
- 1Autosomal recessive hereditary disorder
- 1Congenital oculocutaneous hypopigmentation
- 1Genetic disorder of skin pigmentation
- 1Hereditary disorder of the integument
- 1Hereditary disorder of the visual system
- 2Autosomal hereditary disorder
- 2Congenital anomaly of eye
- 2Congenital deficiency of pigment of skin
- 2Congenital malformation
- 2Developmental hereditary disorder
- 2Disorder of integument
- 2Disorder of pigmentation
- 2Disorder of skin pigmentation
- 2Genetic disease
- 2Hereditary disorder by system
- 2Inborn error of metabolism
- 2Lesion of eye
- 2Visual system disorder
- 3Anomaly of eye
- 3Congenital anomaly of head
- 3Congenital anomaly of visual system
- 3Congenital disease
- 3Congenital pigmentary skin anomalies
- 3Developmental disorder
Showing 25 of 55. Retrieve the full set via the API.
Narrower concepts
(19)Included automatically when you query with descendants.
- 1Black locks, oculocutaneous albinism, AND deafness of the sensorineural type
- 1COMMAD syndrome
- 1Cross syndrome
- 1Microcephalus with albinism and digital anomaly syndrome
- 1Oculocutaneous albinism type 1
- 1Oculocutaneous albinism type 4
- 1Oculocutaneous albinism type 5
- 1Oculocutaneous albinism type 6
- 1Oculocutaneous albinism type 7
- 1Oculocutaneous albinism type 8
- 1Tyrosinase-negative oculocutaneous albinism
- 1Tyrosinase-positive oculocutaneous albinism
- 2Brown oculocutaneous albinism
- 2Hermansky-Pudlak syndrome
- 2Minimal pigment oculocutaneous albinism
- 2Punctate oculocutaneous albinoidism
- 2Rufous albinism
- 2Temperature-sensitive oculocutaneous albinism
- 2Yellow mutant oculocutaneous albinism
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