OMOP Concept 4096151
Tyrosinase-positive oculocutaneous albinism
StandardConditionSNOMED26336006Disorder
Maps from
7
Descendants
4
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
7 source codes normalize to Tyrosinase-positive oculocutaneous albinism via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 123929 | Tyrosinase-positive oculocutaneous albinism | Non-standard |
| CIEL | 132463 | Oculocutaneous Albinoidism | Non-standard |
| ICD10CM | E70.321 | Tyrosinase positive oculocutaneous albinism | Non-standard |
| MeSH | C537730 | Oculocutaneous albinism type 2 | Non-standard |
| Nebraska Lexicon | 11243003 | Oculocutaneous albinoidism | Non-standard |
| Nebraska Lexicon | 26336006 | Tyrosinase-positive oculocutaneous albinism | Non-standard |
| Nebraska Lexicon | 52692001 | Albinoidism | Non-standard |
Synonyms
Alternative names recorded for Tyrosinase-positive oculocutaneous albinism across source vocabularies.
- albinismo oculocutáneo tipo 2
- albinismo oculocutáneo tirosinasa positivo
- albinismo oculocutáneo tirosinasa positivo (trastorno)
- Albinoidism
- albinoidismo
- OCA2 - Tyrosinase-positive oculocutaneous albinism
- Oculocutaneous albinism type 2
- Tyrosinase-positive oculocutaneous albinism (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(56)Roll up to these when you need a wider cohort.
- 1Oculocutaneous albinism
- 2Albinism
- 2Autosomal recessive hereditary disorder
- 2Congenital oculocutaneous hypopigmentation
- 2Genetic disorder of skin pigmentation
- 2Hereditary disorder of the integument
- 2Hereditary disorder of the visual system
- 3Autosomal hereditary disorder
- 3Congenital anomaly of eye
- 3Congenital deficiency of pigment of skin
- 3Congenital malformation
- 3Developmental hereditary disorder
- 3Disorder of integument
- 3Disorder of pigmentation
- 3Disorder of skin pigmentation
- 3Genetic disease
- 3Hereditary disorder by system
- 3Inborn error of metabolism
- 3Lesion of eye
- 3Visual system disorder
- 4Anomaly of eye
- 4Congenital anomaly of head
- 4Congenital anomaly of visual system
- 4Congenital disease
- 4Congenital pigmentary skin anomalies
Narrower concepts
(4)Included automatically when you query with descendants.
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