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230227009: Early onset cerebellar ataxia (disorder)

SNOMED CT Concept\constatation clinique\...

\Finding related to coordination / incoordination (finding)\Ataxia\Cerebellar ataxia\Early onset cerebellar ataxia

\constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Early onset cerebellar ataxia
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Early onset cerebellar ataxia

\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\Cerebellar ataxia\Early onset cerebellar ataxia

\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Early onset cerebellar ataxia

\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Early onset cerebellar ataxia
\Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Early onset cerebellar ataxia

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

Descriptions:

Id Description Lang Type Status Case? Module

345033012 Early onset cerebellar ataxia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

618008010 Early onset cerebellar ataxia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Early onset cerebellar ataxia	morphologie associée (attribut)	dégénérescence	false	Inferred relationship	Some	1
Early onset cerebellar ataxia	localisation d'une constatation (attribut)	structure cérébelleuse	true	Inferred relationship	Some	1
Early onset cerebellar ataxia	est un(e) (attribut)	Cerebellar ataxia	true	Inferred relationship	Some
Early onset cerebellar ataxia	localisation d'une constatation (attribut)	structure cérébelleuse	false	Inferred relationship	Some	1
Early onset cerebellar ataxia	morphologie associée (attribut)	dégénérescence	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome	est un(e) (attribut)	True	Early onset cerebellar ataxia	Inferred relationship	Some
Recessive mitochondrial ataxia syndrome (disorder)	est un(e) (attribut)	True	Early onset cerebellar ataxia	Inferred relationship	Some
Early onset cerebellar ataxia with myoclonus	est un(e) (attribut)	True	Early onset cerebellar ataxia	Inferred relationship	Some
syndrome de Marinesco-Sjögren	est un(e) (attribut)	True	Early onset cerebellar ataxia	Inferred relationship	Some
Early onset cerebellar ataxia with retained tendon reflexes	est un(e) (attribut)	True	Early onset cerebellar ataxia	Inferred relationship	Some
Early onset cerebellar ataxia with hypogonadism	est un(e) (attribut)	True	Early onset cerebellar ataxia	Inferred relationship	Some
Early onset cerebellar ataxia with retinitis pigmentosa and optic atrophy	est un(e) (attribut)	True	Early onset cerebellar ataxia	Inferred relationship	Some
Early onset cerebellar ataxia with essential tremor	est un(e) (attribut)	True	Early onset cerebellar ataxia	Inferred relationship	Some
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder)	est un(e) (attribut)	True	Early onset cerebellar ataxia	Inferred relationship	Some
Autosomal recessive posterior column ataxia and retinitis pigmentosa (disorder)	est un(e) (attribut)	True	Early onset cerebellar ataxia	Inferred relationship	Some
syndrome d'ataxie cérébelleuse, déficience intellectuelle, atrophie optique, anomalies cutanées	est un(e) (attribut)	True	Early onset cerebellar ataxia	Inferred relationship	Some
Spectrin-associated autosomal recessive cerebellar ataxia	est un(e) (attribut)	True	Early onset cerebellar ataxia	Inferred relationship	Some

Reference Sets

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

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Id	Description	Lang	Type	Status	Case?	Module
345033012	Early onset cerebellar ataxia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
618008010	Early onset cerebellar ataxia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core