OMOP Concept 1245373
Congenital pontocerebellar hypoplasia type 13
StandardConditionSNOMED1300191000Disorder
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 13 across source vocabularies.
- Congenital pontocerebellar hypoplasia type 13 (disorder)
- hipoplasia pontocerebelosa congénita tipo 13
- hipoplasia pontocerebelosa congénita tipo 13 (trastorno)
- PCH13 - pontocerebellar hypoplasia type 13
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(39)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Congenital pontocerebellar hypoplasia
- 1Developmental hereditary disorder
- 1Global developmental delay
- 1Hereditary disorder of nervous system
- 1Multiple system malformation syndrome
- 2Autosomal hereditary disorder
- 2Congenital cerebellar hypoplasia
- 2Congenital hypoplasia of brainstem
- 2Congenital malformation syndrome
- 2Developmental delay
- 2Developmental disorder
- 2Disorder of nervous system
- 2Hereditary disease
- 2Hereditary disorder by system
- 3Congenital hypoplasia of part of brain
- 3Congenital malformation
- 3Congenital malformation of cerebellum
- 3Disease
- 3Disorder of body system
- 3Dysgenesis of the brainstem
- 3Genetic disease
- 4Cerebellar disorder
- 4Clinical finding
- 4Congenital anomaly of brain
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