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

SNOMED CT Concept\Clinical finding (finding)\...

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of cerebral cortex (disorder)\Polymicrogyria due to TUBB2B mutation
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Polymicrogyria due to TUBB2B mutation
\Central nervous system finding\Disorder of the central nervous system (disorder)\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 (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Polymicrogyria due to TUBB2B mutation
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex (disorder)\Polymicrogyria due to TUBB2B mutation
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Polymicrogyria due to TUBB2B mutation

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

\Finding of brain\Disorder of brain (disorder)\...

\Disorder of cerebral cortex (disorder)\Polymicrogyria due to TUBB2B mutation

\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Polymicrogyria due to TUBB2B mutation

\Finding of head region\Disorder of cerebral cortex (disorder)\Polymicrogyria due to TUBB2B mutation

\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Polymicrogyria due to TUBB2B mutation
\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex (disorder)\Polymicrogyria due to TUBB2B mutation
\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\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\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Polymicrogyria due to TUBB2B mutation
\Disease\Disorder of body system\Disorder of nervous system (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\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Polymicrogyria due to TUBB2B mutation
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Polymicrogyria due to TUBB2B mutation
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Polymicrogyria due to TUBB2B mutation
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex (disorder)\Polymicrogyria due to TUBB2B mutation
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Polymicrogyria due to TUBB2B mutation
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Polymicrogyria due to TUBB2B mutation
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex (disorder)\Polymicrogyria due to TUBB2B mutation
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Polymicrogyria due to TUBB2B mutation
\Disease\Congenital disease (disorder)\Congenital malformation\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 (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Polymicrogyria due to TUBB2B mutation
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Polymicrogyria due to TUBB2B mutation
\Disease\Developmental disorder\Developmental hereditary disorder\Polymicrogyria due to TUBB2B 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 TUBB2B 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 (disorder)\Polymicrogyria due to TUBB2B mutation
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Polymicrogyria due to TUBB2B mutation

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

Descriptions:

Id Description Lang Type Status Case? Module

5013625010 Polymicrogyria due to TUBB2B mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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

5013627019 Polymicrogyria due to tubulin beta 2B class IIb mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

5625951000052110 polymikrogyri orsakad av TUBB2B-mutation sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Polymicrogyria due to TUBB2B mutation	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Polymicrogyria due to TUBB2B mutation	Is a	Disorder of cerebral cortex (disorder)	true	Inferred relationship	Some
Polymicrogyria due to TUBB2B mutation	Is a	Disorder of neuronal migration and differentiation	true	Inferred relationship	Some
Polymicrogyria due to TUBB2B mutation	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Polymicrogyria due to TUBB2B mutation	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Polymicrogyria due to TUBB2B mutation	Is a	Congenital anomaly of cerebrum (disorder)	true	Inferred relationship	Some
Polymicrogyria due to TUBB2B mutation	Occurrence	Congenital	true	Inferred relationship	Some	1
Polymicrogyria due to TUBB2B mutation	Finding site	Structure of cerebral cortex (body structure)	true	Inferred relationship	Some	1
Polymicrogyria due to TUBB2B mutation	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Polymicrogyria due to TUBB2B mutation	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5013625010	Polymicrogyria due to TUBB2B mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5013626011	Polymicrogyria due to tubulin beta 2B class IIb mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5013627019	Polymicrogyria due to tubulin beta 2B class IIb mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5625951000052110	polymikrogyri orsakad av TUBB2B-mutation	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)