827172005: X-linked progressive cerebellar ataxia (disorder)

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

Status: current, Primitive. Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3874254014	X-linked progressive cerebellar ataxia	en	Synonym	Active	Case sensitive	SNOMED CT core
3874255010	X-linked progressive cerebellar ataxia (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3874256011	A rare X-linked cerebellar ataxia with characteristics of a combination of upper and lower motor neuron signs, with an age of onset in the first or second decade, slow progression, and normal intelligence. Typical features of cerebellar dysfunction include gait and limb ataxia, intention tremor, dysmetria, dysdiadochokinesia, dysarthria, nystagmus, and hyperreflexia. Further phenotypic features are pes cavus, scoliosis, muscle atrophy, and peripheral sensory and motor nerve abnormalities.	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

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