784344009: Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation (disorder)

SNOMED CT Concept\Clinical finding\...

\Neurological lesion\Lesion of brain\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

\Central nervous system finding\Finding of brain\Encephalopathy\Lesion of brain\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Central nervous system finding\Finding of brain\Encephalopathy\Disorder of cerebral cortex\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Central nervous system finding\Finding of brain\Encephalopathy\Disorder of brain stem\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Lesion of brain\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Disorder of cerebral cortex\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Disorder of brain stem\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

\Finding of head and neck region\Head finding\...

\Finding of brain\Encephalopathy\...

\Lesion of brain\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

\Disorder of cerebral cortex\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

\Disorder of brain stem\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Congenital anomaly of brain\Congenital anomaly of cerebrum\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

\Finding of head region\Disorder of cerebral cortex\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disorder of head\Encephalopathy\Lesion of brain\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disorder of head\Encephalopathy\Disorder of cerebral cortex\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disorder of head\Encephalopathy\Disorder of brain stem\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Lesion of brain\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Disorder of cerebral cortex\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Disorder of brain stem\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Disorder of head\Encephalopathy\Lesion of brain\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Disorder of head\Encephalopathy\Disorder of cerebral cortex\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Disorder of head\Encephalopathy\Disorder of brain stem\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Developmental disorder\Developmental hereditary disorder\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3763701017 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation en Synonym Active Initial character case insensitive SNOMED CT core

3763702012 Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3763703019 Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation en Synonym Active Initial character case insensitive SNOMED CT core

3763704013 A rare genetic non-syndromic cerebral malformation due to abnormal neuronal migration disease with the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial hypotonia, strabismus, nystagmus and occasionally, optic nerve hypoplasia. Brain imaging reveals variable malformations, including frontally predominant microgyria, gyral disorganization and simplification, dysmorphic and hypertrophic basal ganglia, cerebellar vermis dysplasia, brainstem/corpus callosum hypoplasia, and/or olfactory bulbs agenesis. Caused by heterozygous mutation in the TUBB3 gene on chromosome 16q24. en Definition Active Case sensitive SNOMED CT core

3763705014 A rare genetic non-syndromic cerebral malformation due to abnormal neuronal migration disease with the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial hypotonia, strabismus, nystagmus and occasionally, optic nerve hypoplasia. Brain imaging reveals variable malformations, including frontally predominant microgyria, gyral disorganisation and simplification, dysmorphic and hypertrophic basal ganglia, cerebellar vermis dysplasia, brainstem/corpus callosum hypoplasia, and/or olfactory bulbs agenesis. Caused by heterozygous mutation in the TUBB3 gene on chromosome 16q24. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	Associated morphology	Hypoplasia	true	Inferred relationship	Some	2
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	Occurrence	Congenital	true	Inferred relationship	Some	3
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	Occurrence	Congenital	true	Inferred relationship	Some	2
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	Occurrence	Congenital	true	Inferred relationship	Some	1
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	Finding site	Cerebellar structure	true	Inferred relationship	Some	2
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	Is a	Cortical dysplasia	true	Inferred relationship	Some
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	Is a	Congenital pontocerebellar hypoplasia	true	Inferred relationship	Some
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	Associated morphology	Hypoplasia	true	Inferred relationship	Some	3
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	Finding site	Structure of cerebral cortex	true	Inferred relationship	Some	1
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	Finding site	Pontine structure	true	Inferred relationship	Some	3
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3763701017	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3763702012	Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3763703019	Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3763704013	A rare genetic non-syndromic cerebral malformation due to abnormal neuronal migration disease with the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial hypotonia, strabismus, nystagmus and occasionally, optic nerve hypoplasia. Brain imaging reveals variable malformations, including frontally predominant microgyria, gyral disorganization and simplification, dysmorphic and hypertrophic basal ganglia, cerebellar vermis dysplasia, brainstem/corpus callosum hypoplasia, and/or olfactory bulbs agenesis. Caused by heterozygous mutation in the TUBB3 gene on chromosome 16q24.	en	Definition	Active	Case sensitive	SNOMED CT core
3763705014	A rare genetic non-syndromic cerebral malformation due to abnormal neuronal migration disease with the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial hypotonia, strabismus, nystagmus and occasionally, optic nerve hypoplasia. Brain imaging reveals variable malformations, including frontally predominant microgyria, gyral disorganisation and simplification, dysmorphic and hypertrophic basal ganglia, cerebellar vermis dysplasia, brainstem/corpus callosum hypoplasia, and/or olfactory bulbs agenesis. Caused by heterozygous mutation in the TUBB3 gene on chromosome 16q24.	en	Definition	Active	Case sensitive	SNOMED CT core