766818009: ataxie cérébelleuse liée à l'X non progressive (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Finding related to coordination / incoordination (finding)\Ataxia\...
• \Hereditary ataxia (disorder)\X-linked non progressive cerebellar ataxia (disorder)
• \Congenital non-progressive ataxia\X-linked non progressive cerebellar ataxia (disorder)
• \Cerebellar ataxia\X-linked non progressive cerebellar ataxia (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\X-linked non progressive cerebellar ataxia (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\X-linked non progressive cerebellar ataxia (disorder)
• \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\X-linked non progressive cerebellar ataxia (disorder)
• \affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\X-linked non progressive cerebellar ataxia (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\X-linked non progressive cerebellar ataxia (disorder)
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked non progressive cerebellar ataxia (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\X-linked non progressive cerebellar ataxia (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\X-linked non progressive cerebellar ataxia (disorder)
• \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\X-linked non progressive cerebellar ataxia (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\X-linked non progressive cerebellar ataxia (disorder)
• \Disease\Congenital disease\Congenital non-progressive ataxia\X-linked non progressive cerebellar ataxia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3662725016	X-linked non progressive cerebellar ataxia (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3662726015	X-linked non progressive cerebellar ataxia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3662727012	X-linked spinocerebellar ataxia type 5	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
768461000241113	ataxie cérébelleuse liée à l'X non progressive (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
873701000172111	ataxie spinocérébelleuse liée à l'X type 5	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
890211000172115	ataxie cérébelleuse liée à l'X non progressive	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3662728019	A rare hereditary ataxia with characteristics of delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

US English

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