OMOP Concept 1245374
Congenital pontocerebellar hypoplasia type 14
StandardConditionSNOMED1300192007Disorder
Maps from
0
Descendants
0
Valid from
1 Feb 2024
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Congenital pontocerebellar hypoplasia type 14 across source vocabularies.
- Congenital pontocerebellar hypoplasia type 14 (disorder)
- hipoplasia pontocerebelosa congénita tipo 14
- hipoplasia pontocerebelosa congénita tipo 14 (trastorno)
- PCH14 - pontocerebellar hypoplasia type 14
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(52)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Chronic brain syndrome
- 1Congenital microcephaly
- 1Congenital pontocerebellar hypoplasia
- 1Developmental hereditary disorder
- 1Global developmental delay
- 1Hereditary disorder of nervous system
- 1Severe intellectual disability
- 2Autosomal hereditary disorder
- 2Chronic nervous system disorder
- 2Congenital anomaly of head
- 2Congenital cerebellar hypoplasia
- 2Developmental delay
- 2Developmental disorder
- 2Disorder of brain
- 2Disorder of nervous system
- 2Dysgenesis of the brainstem
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Intellectual disability
- 2Microcephaly
- 3Behavior finding
- 3Chronic disease
- 3Congenital anomaly of brain
- 3Congenital hypoplasia of part of brain
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