1208935007: Polymicrogyria due to tubulin beta 2B class IIb mutation (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Central nervous system finding\Finding of brain\Encephalopathy\Disorder of cerebral cortex\Polymicrogyria due to TUBB2B mutation
• \Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Polymicrogyria due to TUBB2B mutation
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Polymicrogyria due to TUBB2B 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\Polymicrogyria due to TUBB2B mutation
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Disorder of cerebral cortex\Polymicrogyria due to TUBB2B mutation
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Polymicrogyria due to TUBB2B mutation
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\...
• \Disorder of cerebral cortex\Polymicrogyria due to TUBB2B mutation
• \Congenital anomaly of brain\Congenital anomaly of cerebrum\Polymicrogyria due to TUBB2B mutation
• \Finding of head region\Disorder of cerebral cortex\Polymicrogyria due to TUBB2B mutation
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Polymicrogyria due to TUBB2B mutation
• \Disorder of head\Encephalopathy\Disorder of cerebral cortex\Polymicrogyria due to TUBB2B mutation
• \Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Polymicrogyria due to TUBB2B mutation
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Polymicrogyria due to TUBB2B mutation
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Polymicrogyria due to TUBB2B mutation
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Polymicrogyria due to TUBB2B mutation
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Polymicrogyria due to TUBB2B mutation
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Polymicrogyria due to TUBB2B 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\Polymicrogyria due to TUBB2B 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\Polymicrogyria due to TUBB2B 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\Polymicrogyria due to TUBB2B 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\Polymicrogyria due to TUBB2B mutation
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Disorder of cerebral cortex\Polymicrogyria due to TUBB2B mutation
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Polymicrogyria due to TUBB2B mutation
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Polymicrogyria due to TUBB2B mutation
• \Disease\Disorder of head\Encephalopathy\Disorder of cerebral cortex\Polymicrogyria due to TUBB2B mutation
• \Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Polymicrogyria due to TUBB2B mutation
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Polymicrogyria due to TUBB2B 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\Polymicrogyria due to TUBB2B mutation
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Polymicrogyria due to TUBB2B mutation
• \Disease\Developmental disorder\Developmental hereditary disorder\Polymicrogyria due to TUBB2B mutation
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Polymicrogyria due to TUBB2B 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\Polymicrogyria due to TUBB2B mutation
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Polymicrogyria due to TUBB2B mutation

Status: current, Primitive. Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5013625010	Polymicrogyria due to TUBB2B mutation	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5013626011	Polymicrogyria due to tubulin beta 2B class IIb mutation (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
5013627019	Polymicrogyria due to tubulin beta 2B class IIb mutation	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5013628012	A rare genetic complex cerebral cortical malformation characterised by generalised or focal dysgyria (also named polymicrogyria-like cortical dysplasia) or alternatively by microlissencephaly with dysmorphic basal ganglia and dysgenesis of the corpus callosum. Clinical manifestations are variable and include microcephaly, seizures, hypotonia, developmental delay, severe psychomotor delay, ataxia, spastic diplegia or tetraplegia, and ocular abnormalities (strabismus, ptosis or optic atrophy).	en	Definition	Active	Case sensitive	SNOMED CT core
5013629016	A rare genetic complex cerebral cortical malformation characterized by generalized or focal dysgyria (also named polymicrogyria-like cortical dysplasia) or alternatively by microlissencephaly with dysmorphic basal ganglia and dysgenesis of the corpus callosum. Clinical manifestations are variable and include microcephaly, seizures, hypotonia, developmental delay, severe psychomotor delay, ataxia, spastic diplegia or tetraplegia, and ocular abnormalities (strabismus, ptosis or optic atrophy).	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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