785306007: Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E

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

\Finding of brain\Encephalopathy\...

\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E

\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Congenital anomaly of brain\Lissencephaly\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E

\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E

\Disease\Genetic disease\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\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\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\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\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Lissencephaly\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Lissencephaly with cerebellar hypoplasia\Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E

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

Descriptions:

Id Description Lang Type Status Case? Module

3766860019 Lissencephaly with cerebellar hypoplasia type E en Synonym Active Initial character case insensitive SNOMED CT core

3766864011 Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E en Synonym Active Initial character case insensitive SNOMED CT core

3766865012 Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3766863017 A rare genetic lissencephaly with cerebellar hypoplasia subtype with characteristics of the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E	Is a	Lissencephaly with cerebellar hypoplasia	true	Inferred relationship	Some
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E	Occurrence	Congenital	true	Inferred relationship	Some	1
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E	Is a	Genetic disease	false	Inferred relationship	Some
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E	Finding site	Cerebellar structure	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

Australian dialect reference set

Problem/Diagnosis reference set

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Id	Description	Lang	Type	Status	Case?	Module
3766860019	Lissencephaly with cerebellar hypoplasia type E	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3766864011	Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3766865012	Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3766863017	A rare genetic lissencephaly with cerebellar hypoplasia subtype with characteristics of the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis.	en	Definition	Active	Case sensitive	SNOMED CT core