OMOP Concept 4164154
Congenital pontocerebellar hypoplasia
StandardConditionSNOMED45163000Disorder
Maps from
2
Descendants
16
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
2 source codes normalize to Congenital pontocerebellar hypoplasia via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 143771 | Congenital pontocerebellar hypoplasia | Non-standard |
| MeSH | C580383 | Pontocerebellar Hypoplasia | Non-standard |
Synonyms
Alternative names recorded for Congenital pontocerebellar hypoplasia across source vocabularies.
- Congenital pontocerebellar hypoplasia (disorder)
- hipoplasia pontocerebelosa congénita
- hipoplasia pontocerebelosa congénita (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(27)Roll up to these when you need a wider cohort.
- 1Congenital cerebellar hypoplasia
- 1Congenital hypoplasia of brainstem
- 2Congenital hypoplasia of part of brain
- 2Congenital malformation of cerebellum
- 2Dysgenesis of the brainstem
- 3Cerebellar disorder
- 3Congenital anomaly of brain
- 3Congenital hypoplasia of brain
- 3Structural abnormality of brainstem
- 4Congenital anomaly of central nervous system
- 4Congenital anomaly of head
- 4Disorder of brain
- 4Disorder of brain stem
- 5Congenital anomaly of nervous system
- 5Congenital malformation
- 5Disorder of head
- 5Disorder of the central nervous system
- 5Finding of brain
- 6Central nervous system finding
- 6Congenital disease
- 6Developmental disorder
- 6Disease
- 6Disorder of nervous system
- 6Head finding
- 7Clinical finding
Showing 25 of 27. Retrieve the full set via the API.
Narrower concepts
(16)Included automatically when you query with descendants.
- 1Congenital pontocerebellar hypoplasia type 1
- 1Congenital pontocerebellar hypoplasia type 10
- 1Congenital pontocerebellar hypoplasia type 11
- 1Congenital pontocerebellar hypoplasia type 12
- 1Congenital pontocerebellar hypoplasia type 13
- 1Congenital pontocerebellar hypoplasia type 14
- 1Congenital pontocerebellar hypoplasia type 2
- 1Congenital pontocerebellar hypoplasia type 3
- 1Congenital pontocerebellar hypoplasia type 4
- 1Congenital pontocerebellar hypoplasia type 5
- 1Congenital pontocerebellar hypoplasia type 6
- 1Congenital pontocerebellar hypoplasia type 7
- 1Congenital pontocerebellar hypoplasia type 8
- 1Congenital pontocerebellar hypoplasia type 9
- 1Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
- 1Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
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