OMOP Concept 4246644
Coloboma of eye
StandardConditionSNOMED93390002Disorder
Maps from
3
Descendants
43
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
3 source codes normalize to Coloboma of eye via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 144588 | Coloboma of eye | Non-standard |
| HPO | HP_0000589 | Coloboma | Non-standard |
| MeSH | D003103 | Coloboma | Non-standard |
Synonyms
Alternative names recorded for Coloboma of eye across source vocabularies.
- COI - Coloboma of iris, choroid and retina
- coloboma ocular congénito
- coloboma ocular congénito (trastorno)
- Coloboma of iris, choroid and retina
- Congenital ocular coloboma
- Congenital ocular coloboma (disorder)
- Ocular coloboma
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(21)Roll up to these when you need a wider cohort.
- 1Congenital anomaly of eye
- 1Lesion of eye
- 2Anomaly of eye
- 2Congenital anomaly of head
- 2Congenital anomaly of visual system
- 3Congenital malformation
- 3Disorder of eye
- 3Disorder of head
- 3Visual system disorder
- 4Congenital disease
- 4Developmental disorder
- 4Disease
- 4Disorder of body system
- 4Disorder of eye region
- 4Disorder of sensory organ
- 4Eye / vision finding
- 4Globe finding
- 4Head finding
- 5Clinical finding
- 5Fetal and/or neonatal disorder
- 5Finding of head region
Narrower concepts
(43)Included automatically when you query with descendants.
- 1Abruzzo Erickson syndrome
- 1Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome
- 1Coloboma of choroid
- 1Coloboma of lens
- 1Coloboma of retina
- 1Colobomatous cyst of orbit
- 1Colobomatous microphthalmia
- 1Congenital coloboma of iris
- 1Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
- 1Preaxial polydactyly, colobomata, intellectual disability syndrome
- 1Renal coloboma syndrome
- 1Temtamy syndrome
- 1X-linked cerebral, cerebellar, coloboma syndrome
- 2Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
- 2Biemond syndrome type 2
- 2Bilateral microphthalmos with congenital coloboma
- 2Coloboma of choroid and retina
- 2Colobomatous macrophthalmia with microcornea syndrome
- 2Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
- 2COMMAD syndrome
- 2Congenital coloboma of bilateral irides
- 2Congenital coloboma of left lens
- 2Congenital coloboma of macula lutea
- 2Congenital coloboma of right lens
- 2Fundus coloboma
Showing 25 of 43. Retrieve the full set via the API.
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