253149002: Type 2 lissencephaly (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Type 2 lissencephaly
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Type 2 lissencephaly
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly
\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\Type 2 lissencephaly
\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\Type 2 lissencephaly
\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\Type 2 lissencephaly
\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\Type 2 lissencephaly
\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\Type 2 lissencephaly
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Type 2 lissencephaly
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

377038012 Type 2 lissencephaly en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

643873011 Type 2 lissencephaly (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

5069031000241116 lissencéphalie type 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3440141001000116 Cobblestone-Lissenzephalie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Type 2 lissencephaly	Is a	Lissencephaly	true	Inferred relationship	Some
Type 2 lissencephaly	Finding site	Brain structure	false	Inferred relationship	Some	1
Type 2 lissencephaly	Occurrence	Congenital	false	Inferred relationship	Some
Type 2 lissencephaly	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	1
Type 2 lissencephaly	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Type 2 lissencephaly	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Type 2 lissencephaly	Finding site	Brain structure	true	Inferred relationship	Some	1
Type 2 lissencephaly	Occurrence	Congenital	false	Inferred relationship	Some	2
Type 2 lissencephaly	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Type 2 lissencephaly	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	2
Type 2 lissencephaly	Occurrence	Congenital	false	Inferred relationship	Some	3
Type 2 lissencephaly	Associated morphology	anomalie du développement	false	Inferred relationship	Some	3
Type 2 lissencephaly	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	3
Type 2 lissencephaly	Occurrence	Congenital	true	Inferred relationship	Some	1
Type 2 lissencephaly	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Type 2 lissencephaly	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Walker-Warburg congenital muscular dystrophy	Is a	True	Type 2 lissencephaly	Inferred relationship	Some
A rare, genetic, cobblestone lissencephaly disease characterized by the presence of a constellation of brain malformations, including cortical gyral and sulcus anomalies, white matter signal abnormalities, cerebellar dysplasia and brainstem hypoplasia, existing alone or in conjunction with minimal muscular and ocular abnormalities, typically manifesting with severe developmental delay, increased head circumference, hydrocephalus and seizures.	Is a	True	Type 2 lissencephaly	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
377038012	Type 2 lissencephaly	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
643873011	Type 2 lissencephaly (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5069031000241116	lissencéphalie type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3440141001000116	Cobblestone-Lissenzephalie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module