16026008: Congenital cerebellar hypoplasia (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia
\constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia
\constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

\constatation à propos l'encéphale\Disorder of brain (disorder)\...

\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia

\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia
\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia

\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia
\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia
\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia
\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia
\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia

\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia
\Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia
\Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia
\Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia
\Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia
\Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia

Status: current, 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
Congenital cerebellar hypoplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital cerebellar hypoplasia	est un(e) (attribut)	Congenital hypoplasia of part of brain	true	Inferred relationship	Some
Congenital cerebellar hypoplasia	est un(e) (attribut)	dysgénésie du cervelet	true	Inferred relationship	Some
Congenital cerebellar hypoplasia	morphologie associée (attribut)	Congenital developmental anomaly (morphologic abnormality)	false	Inferred relationship	Some	2
Congenital cerebellar hypoplasia	localisation d'une constatation (attribut)	structure cérébelleuse	false	Inferred relationship	Some	2
Congenital cerebellar hypoplasia	localisation d'une constatation (attribut)	structure cérébelleuse	false	Inferred relationship	Some	1
Congenital cerebellar hypoplasia	morphologie associée (attribut)	Congenital hypoplasia	false	Inferred relationship	Some	1
Congenital cerebellar hypoplasia	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Congenital cerebellar hypoplasia	localisation d'une constatation (attribut)	structure cérébelleuse	false	Inferred relationship	Some	2
Congenital cerebellar hypoplasia	morphologie associée (attribut)	Hypoplasia (morphologic abnormality)	false	Inferred relationship	Some	2
Congenital cerebellar hypoplasia	morphologie associée (attribut)	Hypoplasia (morphologic abnormality)	true	Inferred relationship	Some	1
Congenital cerebellar hypoplasia	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Congenital cerebellar hypoplasia	localisation d'une constatation (attribut)	structure cérébelleuse	true	Inferred relationship	Some	1
Congenital cerebellar hypoplasia	morphologie associée (attribut)	Congenital hypoplasia	false	Inferred relationship	Some	1
Congenital cerebellar hypoplasia	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	2
Congenital cerebellar hypoplasia	localisation d'une constatation (attribut)	structure cérébelleuse	false	Inferred relationship	Some	1
Congenital cerebellar hypoplasia	localisation d'une constatation (attribut)	Structure of central nervous system (body structure)	false	Inferred relationship	Some	2
Congenital cerebellar hypoplasia	survenue (attribut)	congénital	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome	est un(e) (attribut)	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
syndrome de Dandy-Walker	est un(e) (attribut)	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome	est un(e) (attribut)	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
Congenital muscular dystrophy with cerebellar involvement	est un(e) (attribut)	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome	est un(e) (attribut)	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
Endosteal hyperostoses with cerebellar hypoplasia	est un(e) (attribut)	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)	est un(e) (attribut)	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder)	est un(e) (attribut)	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome	est un(e) (attribut)	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
Lethal brain and heart developmental defects syndrome (disorder)	est un(e) (attribut)	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
Congenital pontocerebellar hypoplasia	est un(e) (attribut)	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
Congenital hypoplasia of inner granular layer of cerebellum	est un(e) (attribut)	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
Granular cell hypoplasia	est un(e) (attribut)	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
Lissencephaly co-occurrent with congenital cerebellar hypoplasia (disorder)	est un(e) (attribut)	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)	est un(e) (attribut)	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
X-linked intellectual disability with cerebellar hypoplasia syndrome (disorder)	est un(e) (attribut)	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder)	est un(e) (attribut)	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome	est un(e) (attribut)	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
Isolated cerebellar vermis hypoplasia	est un(e) (attribut)	True	Congenital cerebellar hypoplasia	Inferred relationship	Some
X-linked cerebral, cerebellar, coloboma syndrome (disorder)	est un(e) (attribut)	True	Congenital cerebellar hypoplasia	Inferred relationship	Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
1221252015	Hypoplasia of the cerebellum	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
27131016	Congenital cerebellar hypoplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
27132011	Cerebellar hypoplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
27133018	Congenital hypoplasia of cerebellum	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
27134012	Congenital small cerebellum	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
742969019	Congenital cerebellar hypoplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core