725408001: Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding related to coordination / incoordination\Ataxia\...
• \Hereditary ataxia\Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2
• \Cerebellar ataxia\Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2
• \Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system\Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2
• \Disorder of eye movements\Strabismus\Oculomotor apraxia\Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Strabismus\Oculomotor apraxia\Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3442311019	Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3442312014	AOA2 - ataxia oculomotor apraxia type 2	en	Synonym	Active	Case sensitive	SNOMED CT core
3442313016	SCAR1 - spinocerebellar ataxia autosomal recessive 1	en	Synonym	Active	Case sensitive	SNOMED CT core
3442314010	Spinocerebellar ataxia with axonal neuropathy type 2	en	Synonym	Active	Case insensitive	SNOMED CT core
3442316012	Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2	en	Synonym	Active	Case insensitive	SNOMED CT core
3442315011	A rare autosomal recessive cerebellar ataxia with characteristics of progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level. This disease is mostly an adolescent onset disorder. Caused by mutations in SETX gene (9q34), encoding senataxin protein, a DNA/RNA helicase in nucleus which is implicated in DNA break repair. Mutations in the gene PIK3R5 (17p13.1) have also been implicated in the pathogenesis of this disease. Transmission is autosomal recessive.	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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