253147000: Type 1 lissencephaly (disorder)

SNOMED CT Concept\Clinical finding\...

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

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

\Finding of brain\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly

\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly

\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
\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
\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
\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
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly
\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
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly
\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
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3701277019 Classic lissencephaly en Synonym Active Case insensitive SNOMED CT core

377034014 Type 1 lissencephaly en Synonym Active Case insensitive SNOMED CT core

643871013 Type 1 lissencephaly (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Lissencephaly type 1 due to doublecortin gene mutation	Is a	True	Type 1 lissencephaly	Inferred relationship	Some
Isolated lissencephaly type 1 without known genetic defect	Is a	True	Type 1 lissencephaly	Inferred relationship	Some
Lissencephaly syndrome Norman Roberts type	Is a	True	Type 1 lissencephaly	Inferred relationship	Some
Miller Dieker syndrome	Is a	True	Type 1 lissencephaly	Inferred relationship	Some
Lissencephaly due to LIS1 mutation	Is a	True	Type 1 lissencephaly	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3701277019	Classic lissencephaly	en	Synonym	Active	Case insensitive	SNOMED CT core
377034014	Type 1 lissencephaly	en	Synonym	Active	Case insensitive	SNOMED CT core
643871013	Type 1 lissencephaly (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core