770560008: Lissencephaly due to LIS1 mutation (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Lissencephaly due to LIS1 mutation
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly due to LIS1 mutation
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Type 1 lissencephaly\Lissencephaly due to LIS1 mutation
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Lissencephaly due to LIS1 mutation
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly due to LIS1 mutation
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Lissencephaly due to LIS1 mutation
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly due to LIS1 mutation

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

\Finding of brain\Encephalopathy\Congenital anomaly of brain\...

\Congenital anomaly of cerebrum\Lissencephaly due to LIS1 mutation

\Lissencephaly\Type 1 lissencephaly\Lissencephaly due to LIS1 mutation

\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Lissencephaly due to LIS1 mutation
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly due to LIS1 mutation
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Lissencephaly due to LIS1 mutation
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly due to LIS1 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\Type 1 lissencephaly\Lissencephaly due to LIS1 mutation
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Lissencephaly due to LIS1 mutation
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly due to LIS1 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\Type 1 lissencephaly\Lissencephaly due to LIS1 mutation
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Lissencephaly due to LIS1 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\Type 1 lissencephaly\Lissencephaly due to LIS1 mutation
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Lissencephaly due to LIS1 mutation
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly due to LIS1 mutation
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Lissencephaly due to LIS1 mutation
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly due to LIS1 mutation
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Lissencephaly due to LIS1 mutation
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly due to LIS1 mutation
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Type 1 lissencephaly\Lissencephaly due to LIS1 mutation
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Lissencephaly due to LIS1 mutation
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly due to LIS1 mutation
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Lissencephaly due to LIS1 mutation
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly due to LIS1 mutation
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Type 1 lissencephaly\Lissencephaly due to LIS1 mutation
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Lissencephaly due to LIS1 mutation
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly due to LIS1 mutation
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Lissencephaly due to LIS1 mutation
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly due to LIS1 mutation

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3701271018 PAFAH1B1-related lissencephaly en Synonym Active Case sensitive SNOMED CT core

3701273015 PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1) related lissencephaly en Synonym Active Case sensitive SNOMED CT core

3701275010 Lissencephaly due to LIS1 mutation en Synonym Active Initial character case insensitive SNOMED CT core

3701279016 Lissencephaly due to LIS1 mutation (disorder) en Fully specified name Active Initial character case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lissencephaly due to LIS1 mutation	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Lissencephaly due to LIS1 mutation	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Lissencephaly due to LIS1 mutation	Is a	Congenital anomaly of cerebrum	true	Inferred relationship	Some
Lissencephaly due to LIS1 mutation	Finding site	Structure of cerebrum	true	Inferred relationship	Some	1
Lissencephaly due to LIS1 mutation	Is a	Anomalies of cerebrum	false	Inferred relationship	Some
Lissencephaly due to LIS1 mutation	Is a	Type 1 lissencephaly	true	Inferred relationship	Some
Lissencephaly due to LIS1 mutation	Occurrence	Congenital	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

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Id	Description	Lang	Type	Status	Case?	Module
3701271018	PAFAH1B1-related lissencephaly	en	Synonym	Active	Case sensitive	SNOMED CT core
3701273015	PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1) related lissencephaly	en	Synonym	Active	Case sensitive	SNOMED CT core
3701275010	Lissencephaly due to LIS1 mutation	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3701279016	Lissencephaly due to LIS1 mutation (disorder)	en	Fully specified name	Active	Initial character case insensitive	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	Case sensitive	SNOMED CT core