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

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Disorder of brain\Disorder of cerebral cortex\Polymicrogyria due to tubulin beta 2B class IIb mutation
\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Polymicrogyria due to tubulin beta 2B class IIb 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 tubulin beta 2B class IIb 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 tubulin beta 2B class IIb mutation
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Disorder of cerebral cortex\Polymicrogyria due to tubulin beta 2B class IIb mutation
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Polymicrogyria due to tubulin beta 2B class IIb mutation

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

\Finding of brain\Disorder of brain\...

\Disorder of cerebral cortex\Polymicrogyria due to tubulin beta 2B class IIb mutation

\Congenital anomaly of brain\Congenital anomaly of cerebrum\Polymicrogyria due to tubulin beta 2B class IIb mutation

\Finding of head region\Disorder of cerebral cortex\Polymicrogyria due to tubulin beta 2B class IIb mutation

\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Polymicrogyria due to tubulin beta 2B class IIb mutation
\Disorder of head\Disorder of brain\Disorder of cerebral cortex\Polymicrogyria due to tubulin beta 2B class IIb mutation
\Disorder of head\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Polymicrogyria due to tubulin beta 2B class IIb mutation

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Polymicrogyria due to tubulin beta 2B class IIb mutation
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Polymicrogyria due to tubulin beta 2B class IIb mutation
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Polymicrogyria due to tubulin beta 2B class IIb mutation
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Polymicrogyria due to tubulin beta 2B class IIb mutation
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Polymicrogyria due to tubulin beta 2B class IIb mutation
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Polymicrogyria due to tubulin beta 2B class IIb mutation
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Polymicrogyria due to tubulin beta 2B class IIb mutation
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Polymicrogyria due to tubulin beta 2B class IIb mutation
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Polymicrogyria due to tubulin beta 2B class IIb mutation
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Disorder of cerebral cortex\Polymicrogyria due to tubulin beta 2B class IIb mutation
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Polymicrogyria due to tubulin beta 2B class IIb mutation
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Polymicrogyria due to tubulin beta 2B class IIb mutation
\Disease\Disorder of head\Disorder of brain\Disorder of cerebral cortex\Polymicrogyria due to tubulin beta 2B class IIb mutation
\Disease\Disorder of head\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Polymicrogyria due to tubulin beta 2B class IIb mutation
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Polymicrogyria due to tubulin beta 2B class IIb mutation
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Polymicrogyria due to tubulin beta 2B class IIb mutation
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Polymicrogyria due to tubulin beta 2B class IIb mutation
\Disease\Developmental disorder\Developmental hereditary disorder\Polymicrogyria due to tubulin beta 2B class IIb mutation
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Polymicrogyria due to tubulin beta 2B class IIb mutation
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Polymicrogyria due to tubulin beta 2B class IIb mutation
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Polymicrogyria due to tubulin beta 2B class IIb mutation

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Mar 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

5013625010 Polymicrogyria due to TUBB2B mutation en Synonym Active Only initial character case insensitive SNOMED CT core module

5013626011 Polymicrogyria due to tubulin beta 2B class IIb mutation (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

5013627019 Polymicrogyria due to tubulin beta 2B class IIb mutation en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Polymicrogyria due to tubulin beta 2B class IIb mutation	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Polymicrogyria due to tubulin beta 2B class IIb mutation	Is a	Disorder of cerebral cortex	true	Inferred relationship	Existential restriction modifier
Polymicrogyria due to tubulin beta 2B class IIb mutation	Is a	Disorder of neuronal migration and differentiation	true	Inferred relationship	Existential restriction modifier
Polymicrogyria due to tubulin beta 2B class IIb mutation	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Polymicrogyria due to tubulin beta 2B class IIb mutation	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Polymicrogyria due to tubulin beta 2B class IIb mutation	Is a	Congenital anomaly of cerebrum	true	Inferred relationship	Existential restriction modifier
Polymicrogyria due to tubulin beta 2B class IIb mutation	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Polymicrogyria due to tubulin beta 2B class IIb mutation	Finding site	Structure of cerebral cortex	true	Inferred relationship	Existential restriction modifier	1
Polymicrogyria due to tubulin beta 2B class IIb mutation	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Polymicrogyria due to tubulin beta 2B class IIb mutation	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
5013625010	Polymicrogyria due to TUBB2B mutation	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
5013626011	Polymicrogyria due to tubulin beta 2B class IIb mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
5013627019	Polymicrogyria due to tubulin beta 2B class IIb mutation	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module