717332007: Cerebellar ataxia Cayman type (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding related to coordination / incoordination\Ataxia\...
• \Hereditary ataxia\Cerebellar ataxia Cayman type
• \Cerebellar ataxia\Cerebellar ataxia Cayman type
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia Cayman type
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia Cayman type
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia Cayman type
• \Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia Cayman type
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Cerebellar ataxia Cayman type
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cerebellar ataxia Cayman type
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Cerebellar ataxia Cayman type
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\Cerebellar ataxia Cayman type
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia Cayman type
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia Cayman type

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3309073019	Cerebellar ataxia Cayman type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3309074013	Cerebellar ataxia Cayman type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3309075014	Cayman ataxia	en	Synonym	Active	Case sensitive	SNOMED CT core
3309076010	Cerebellar ataxia Cayman type has characteristics of psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia. The prevalence is unknown, but the disorder is very rare in the general population. However, a founder mutation has led to a high incidence in the Cayman island population. The disorder is transmitted as an autosomal recessive trait and is caused by mutations in the ATCAY gene (19p13.3), encoding Caytaxin.	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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