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

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation

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

\Finding of brain\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation

\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Lissencephaly due to TUBA1A (tubulin alpha 1A) 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\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) 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\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
\Disease\Developmental disorder\Developmental hereditary disorder\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation

Status: current, Primitive. 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 Initial character case insensitive SNOMED CT core

3313760011 Lissencephaly due to tubulin alpha 1A mutation en Synonym Active Initial character case insensitive SNOMED CT core

3313761010 Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation en Synonym Active Initial character case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation	Is a	Lissencephaly	true	Inferred relationship	Some
Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation	Occurrence	Congenital	false	Inferred relationship	Some	2
Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation	Finding site	Structure of central nervous system	false	Inferred relationship	Some	2
Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	3
Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation	Finding site	Brain structure	false	Inferred relationship	Some	3
Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation	Occurrence	Congenital	true	Inferred relationship	Some	1
Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation	Finding site	Brain structure	true	Inferred relationship	Some	1

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
3313759018	Lissencephaly due to tubulin alpha 1A mutation (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3313760011	Lissencephaly due to tubulin alpha 1A mutation	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3313761010	Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	SNOMED CT core