770560008: Lissencephaly due to LIS1 mutation (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Lissencephaly due to LIS1 mutation
• \Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly (disorder)\Lissencephaly due to LIS1 mutation
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Lissencephaly due to LIS1 mutation
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly (disorder)\Lissencephaly due to LIS1 mutation
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Lissencephaly due to LIS1 mutation
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly (disorder)\Lissencephaly due to LIS1 mutation
• \Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Lissencephaly due to LIS1 mutation
• \Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly (disorder)\Lissencephaly due to LIS1 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\Type 1 lissencephaly (disorder)\Lissencephaly due to LIS1 mutation
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Lissencephaly due to LIS1 mutation
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly (disorder)\Lissencephaly due to LIS1 mutation
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Lissencephaly due to LIS1 mutation
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly (disorder)\Lissencephaly due to LIS1 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\Type 1 lissencephaly (disorder)\Lissencephaly due to LIS1 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\Congenital anomaly of cerebrum (disorder)\Lissencephaly due to LIS1 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\Type 1 lissencephaly (disorder)\Lissencephaly due to LIS1 mutation
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Lissencephaly due to LIS1 mutation
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly (disorder)\Lissencephaly due to LIS1 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\Type 1 lissencephaly (disorder)\Lissencephaly due to LIS1 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\Congenital anomaly of cerebrum (disorder)\Lissencephaly due to LIS1 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\Type 1 lissencephaly (disorder)\Lissencephaly due to LIS1 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\Type 1 lissencephaly (disorder)\Lissencephaly due to LIS1 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\Congenital anomaly of cerebrum (disorder)\Lissencephaly due to LIS1 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\Type 1 lissencephaly (disorder)\Lissencephaly due to LIS1 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\Congenital anomaly of cerebrum (disorder)\Lissencephaly due to LIS1 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\Type 1 lissencephaly (disorder)\Lissencephaly due to LIS1 mutation
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Lissencephaly due to LIS1 mutation
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly (disorder)\Lissencephaly due to LIS1 mutation
• \Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Lissencephaly due to LIS1 mutation
• \Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly (disorder)\Lissencephaly due to LIS1 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\Type 1 lissencephaly (disorder)\Lissencephaly due to LIS1 mutation
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Lissencephaly due to LIS1 mutation
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly (disorder)\Lissencephaly due to LIS1 mutation
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Lissencephaly due to LIS1 mutation
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly (disorder)\Lissencephaly due to LIS1 mutation

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3701271018	PAFAH1B1-related lissencephaly	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3701273015	PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1) related lissencephaly	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3701275010	Lissencephaly due to LIS1 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3701279016	Lissencephaly due to LIS1 mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5404804014	Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404805010	Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterised predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3701271018	PAFAH1B1-related lissencephaly	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3701273015	PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1) related lissencephaly	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3701275010	Lissencephaly due to LIS1 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3701279016	Lissencephaly due to LIS1 mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3701276011	A cerebral malformation with epilepsy with predominant characteristics of posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia. Caused by heterozygous mutation in the PAFAH1B1 gene on chromosome 17p13.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404804014	Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404805010	Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterised predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3389751001000113	Lissenzephalie durch LIS1-Genmutation	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
923191000172110	lissencephélie associée à PAFAH1B1	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
948221000172113	lissencéphalie par mutation de LIS1	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
923191000172110	lissencephélie associée à PAFAH1B1	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
948221000172113	lissencéphalie par mutation de LIS1	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3389751001000113	Lissenzephalie durch LIS1-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)

Back to Start