OMOP Concept 35622786
Biallelic RPE65 mutation associated retinal dystrophy
StandardConditionSNOMED764969006Disorder
Maps from
1
Descendants
0
Valid from
31 Jul 2018
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Biallelic RPE65 mutation associated retinal dystrophy via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| Nebraska Lexicon | 764969006 | Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy | Non-standard |
Synonyms
Alternative names recorded for Biallelic RPE65 mutation associated retinal dystrophy across source vocabularies.
- Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy
- Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy (disorder)
- distrofia retiniana asociada con mutación de retinoide isomerohidrolasa RPE65 bialélica
- distrofia retiniana asociada con mutación de retinoide isomerohidrolasa RPE65 bialélica (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(29)Roll up to these when you need a wider cohort.
- 1Congenital disease
- 1Hereditary retinal dystrophy primarily involving retinal pigment epithelium
- 2Disorder of fetus and/or newborn
- 2Hereditary retinal dystrophy
- 3Disease
- 3Hereditary disorder of the visual system
- 3Retinal dystrophy
- 4Clinical finding
- 4Degeneration of retina
- 4Hereditary disorder by system
- 4Visual system disorder
- 5Degenerative disorder of eye
- 5Disorder of body system
- 5Eye / vision finding
- 5Hereditary disease
- 5Retinal disorder
- 6Anomaly of eye
- 6Degenerative disorder
- 6Disorder of vitreous body and/or retina
- 6Genetic disease
- 6Retina finding
- 7Disorder of eye
- 7Disorder of posterior segment of eye
- 7Globe finding
- 8Disorder of eye region
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