OMOP Concept 36713677
Congenital pontocerebellar hypoplasia type 8
StandardConditionSNOMED718611007Disorder
Maps from
1
Descendants
0
Valid from
31 Jan 2017
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Congenital pontocerebellar hypoplasia type 8 via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| Nebraska Lexicon | 718611007 | Congenital pontocerebellar hypoplasia type 8 | Non-standard |
Synonyms
Alternative names recorded for Congenital pontocerebellar hypoplasia type 8 across source vocabularies.
- Congenital pontocerebellar hypoplasia type 8 (disorder)
- hipoplasia pontocerebelosa congénita tipo 8
- hipoplasia pontocerebelosa congénita tipo 8 (trastorno)
- PCH8 - pontocerebellar hypoplasia type 8
- Pontocerebellar hypoplasia due to CHMP1A (charged multivesicular body protein 1A) mutation
- Pontocerebellar hypoplasia type 8
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(33)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Congenital pontocerebellar hypoplasia
- 1Developmental hereditary disorder
- 1Hereditary disorder of nervous system
- 2Autosomal hereditary disorder
- 2Congenital cerebellar hypoplasia
- 2Developmental disorder
- 2Disorder of nervous system
- 2Dysgenesis of the brainstem
- 2Hereditary disease
- 2Hereditary disorder by system
- 3Congenital anomaly of brain
- 3Congenital hypoplasia of part of brain
- 3Disease
- 3Disorder of body system
- 3Disorder of brain stem
- 3Dysgenesis of the cerebellum
- 3Genetic disease
- 4Cerebellar disorder
- 4Clinical finding
- 4Congenital anomaly of central nervous system
- 4Congenital anomaly of head
- 4Congenital hypoplasia of brain
- 4Disorder of brain
- 5Congenital anomaly of nervous system
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