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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
• \Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\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 (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\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 foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Disorder of neuronal migration and differentiation\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Disorder of neuronal migration and differentiation\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Disorder of neuronal migration and differentiation\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
• \Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Disorder of neuronal migration and differentiation\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation

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
5401856017	Lissencephaly (LIS) due to TUBA1A mutation is 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
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
5401856017	Lissencephaly (LIS) due to TUBA1A mutation is 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
3382391001000112	Lissenzephalie durch TUBA1A-Genmutation	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6326291000241112	lissencéphalie due à une mutation de TUBA1A (tubulin alpha 1A)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6326291000241112	lissencéphalie due à une mutation de TUBA1A (tubulin alpha 1A)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3382391001000112	Lissenzephalie durch TUBA1A-Genmutation	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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