766818009: X-linked non progressive cerebellar ataxia (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding related to coordination / incoordination\Ataxia\...
• \Hereditary ataxia\X-linked non progressive cerebellar ataxia
• \Congenital non-progressive ataxia\X-linked non progressive cerebellar ataxia
• \Cerebellar ataxia\X-linked non progressive cerebellar ataxia
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\X-linked non progressive cerebellar ataxia
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\X-linked non progressive cerebellar ataxia
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\X-linked non progressive cerebellar ataxia
• \Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\X-linked non progressive cerebellar ataxia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\X-linked non progressive cerebellar ataxia
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked non progressive cerebellar ataxia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\X-linked non progressive cerebellar ataxia
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\X-linked non progressive cerebellar ataxia
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\X-linked non progressive cerebellar ataxia
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\X-linked non progressive cerebellar ataxia
• \Disease\Congenital disease\Congenital non-progressive ataxia\X-linked non progressive cerebellar ataxia

Status: current, Primitive. 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	Case sensitive	SNOMED CT core
3662726015	X-linked non progressive cerebellar ataxia	en	Synonym	Active	Case sensitive	SNOMED CT core
3662727012	X-linked spinocerebellar ataxia type 5	en	Synonym	Active	Case sensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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