OMOP Concept 37205066
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
StandardConditionSNOMED784344009Disorder
Maps from
0
Descendants
0
Valid from
31 Jul 2019
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation across source vocabularies.
- Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation
- Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation (disorder)
- disgenesia cortical con hipoplasia pontocerebelosa debida a mutación de clase III de tubulina beta
- disgenesia cortical con hipoplasia pontocerebelosa debida a mutación de clase III de tubulina beta (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(43)Roll up to these when you need a wider cohort.
- 1Autosomal dominant hereditary disorder
- 1Congenital pontocerebellar hypoplasia
- 1Cortical dysplasia
- 1Developmental hereditary disorder
- 1Hereditary disorder of nervous system
- 2Autosomal hereditary disorder
- 2Congenital anomaly of cerebrum
- 2Congenital cerebellar hypoplasia
- 2Congenital hypoplasia of brainstem
- 2Developmental disorder
- 2Disorder of nervous system
- 2Disorder of neuronal migration and differentiation
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Lesion of brain
- 2Structural abnormality of cerebral cortex
- 3Congenital anomaly of brain
- 3Congenital anomaly of central nervous system
- 3Congenital hypoplasia of part of brain
- 3Congenital malformation of cerebellum
- 3Disease
- 3Disorder of body system
- 3Disorder of brain
- 3Disorder of cerebral cortex
- 3Dysgenesis of the brainstem
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