253147000: Type 1 lissencephaly (disorder)

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

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly\Type 1 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 1 lissencephaly
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly

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

\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly

\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly
\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly\Type 1 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 1 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 1 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 1 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 1 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 1 lissencephaly
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Type 1 lissencephaly
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 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 1 lissencephaly
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly

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

Descriptions:

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Miller Dieker syndrome	Is a	True	Type 1 lissencephaly	Inferred relationship	Some
Lissencephaly type 1 due to doublecortin gene mutation (disorder)	Is a	True	Type 1 lissencephaly	Inferred relationship	Some
Isolated lissencephaly type 1 without known genetic defect (disorder)	Is a	True	Type 1 lissencephaly	Inferred relationship	Some
Lissencephaly syndrome Norman Roberts type (disorder)	Is a	True	Type 1 lissencephaly	Inferred relationship	Some
Lissencephaly due to LIS1 mutation	Is a	True	Type 1 lissencephaly	Inferred relationship	Some
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome	Is a	True	Type 1 lissencephaly	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
377034014	Type 1 lissencephaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
643871013	Type 1 lissencephaly (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3701277019	Classic lissencephaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5958021000172116	lissencéphalie type 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5239301000172118	lissencefalie type 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)