718759003: Lissencephaly due to tubulin alpha 1A mutation (disorder)

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

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to tubulin alpha 1A mutation (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Lissencephaly due to tubulin alpha 1A mutation (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to tubulin alpha 1A mutation (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to tubulin alpha 1A mutation (disorder)

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

\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to tubulin alpha 1A mutation (disorder)

\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to tubulin alpha 1A mutation (disorder)
\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to tubulin alpha 1A mutation (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Lissencephaly due to tubulin alpha 1A mutation (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Lissencephaly due to tubulin alpha 1A mutation (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Lissencephaly due to tubulin alpha 1A mutation (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Lissencephaly due to tubulin alpha 1A mutation (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Lissencephaly due to tubulin alpha 1A mutation (disorder)
\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\Lissencephaly\Lissencephaly due to tubulin alpha 1A mutation (disorder)
\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\Lissencephaly\Lissencephaly due to tubulin alpha 1A mutation (disorder)
\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\Lissencephaly\Lissencephaly due to tubulin alpha 1A mutation (disorder)
\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\Lissencephaly\Lissencephaly due to tubulin alpha 1A mutation (disorder)
\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\Lissencephaly\Lissencephaly due to tubulin alpha 1A mutation (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to tubulin alpha 1A mutation (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to tubulin alpha 1A mutation (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Lissencephaly due to tubulin alpha 1A mutation (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to tubulin alpha 1A mutation (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to tubulin alpha 1A mutation (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Lissencephaly due to tubulin alpha 1A mutation (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Lissencephaly due to tubulin alpha 1A mutation (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to tubulin alpha 1A mutation (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to tubulin alpha 1A mutation (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3313759018 Lissencephaly due to tubulin alpha 1A mutation (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3313760011 Lissencephaly due to tubulin alpha 1A mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3313761010 Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3313762015 A congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3903281000052111 lissencefali orsakad av alfa-tubulin 1A-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
Lissencephaly due to tubulin alpha 1A mutation (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Lissencephaly due to tubulin alpha 1A mutation (disorder)	Is a	Lissencephaly	true	Inferred relationship	Some
Lissencephaly due to tubulin alpha 1A mutation (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Lissencephaly due to tubulin alpha 1A mutation (disorder)	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	2
Lissencephaly due to tubulin alpha 1A mutation (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Lissencephaly due to tubulin alpha 1A mutation (disorder)	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	2
Lissencephaly due to tubulin alpha 1A mutation (disorder)	Associated morphology	kongenital anomali	false	Inferred relationship	Some	3
Lissencephaly due to tubulin alpha 1A mutation (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	3
Lissencephaly due to tubulin alpha 1A mutation (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Lissencephaly due to tubulin alpha 1A mutation (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	1
Lissencephaly due to tubulin alpha 1A mutation (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Lissencephaly due to tubulin alpha 1A mutation (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Lissencephaly due to tubulin alpha 1A mutation (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3313759018	Lissencephaly due to tubulin alpha 1A mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3313760011	Lissencephaly due to tubulin alpha 1A mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3313761010	Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3313762015	A congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3903281000052111	lissencefali orsakad av alfa-tubulin 1A-mutation	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)