OMOP Concept 36717191
Joubert syndrome with oculorenal defect
StandardConditionSNOMED721862000Disorder
Maps from
2
Descendants
0
Valid from
31 Jan 2017
Valid to
31 Dec 2099
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Source codes that map to this concept
2 source codes normalize to Joubert syndrome with oculorenal defect via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C537430 | Arima syndrome | Non-standard |
| Nebraska Lexicon | 721862000 | Cerebello-oculo-renal syndrome | Non-standard |
Synonyms
Alternative names recorded for Joubert syndrome with oculorenal defect across source vocabularies.
- Arima syndrome
- Cerebello-oculo-renal syndrome
- Joubert syndrome with oculorenal defect (disorder)
- síndrome de Joubert con defecto oculorrenal
- síndrome de Joubert con defecto oculorrenal (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(84)Roll up to these when you need a wider cohort.
- 1Hereditary disorder of the visual system
- 1Joubert syndrome
- 1Nephronophthisis
- 1Retinal disorder
- 2Autosomal recessive hereditary disorder
- 2Developmental hereditary disorder
- 2Disorder of vitreous body and/or retina
- 2Familial aplasia of the vermis
- 2Hereditary disorder by system
- 2Hereditary disorder of nervous system
- 2Hereditary nephropathy
- 2Nephronophthisis - medullary cystic disease
- 2Retina finding
- 2Visual system disorder
- 3Aplasia of the vermis
- 3Autosomal hereditary disorder
- 3Developmental disorder
- 3Disorder of body system
- 3Disorder of nervous system
- 3Disorder of posterior segment of eye
- 3Eye / vision finding
- 3Globe finding
- 3Hereditary disease
- 3Hereditary disorder of the urinary system
- 3Kidney disease
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