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

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

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

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

\Finding of brain\Disorder of brain (disorder)\...

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

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

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3766864011 Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3766865012 Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

13984531000172117 LCHe - lissencéphalie avec hypoplasie cérébelleuse de type E fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

13984541000172112 lissencéphalie avec hypoplasie cérébelleuse congénitale de type E fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4129881000172111 lissencefalie gelijktijdig met congenitale cerebellaire hypoplasie type E nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4129891000172114 lissencefalie gelijktijdig met cerebellaire hypoplasie type E nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
3766860019	Lissencephaly with cerebellar hypoplasia type E	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3766864011	Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3766865012	Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
13984531000172117	LCHe - lissencéphalie avec hypoplasie cérébelleuse de type E	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
13984541000172112	lissencéphalie avec hypoplasie cérébelleuse congénitale de type E	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4129881000172111	lissencefalie gelijktijdig met congenitale cerebellaire hypoplasie type E	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4129891000172114	lissencefalie gelijktijdig met cerebellaire hypoplasie type E	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)