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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3442312014	AOA2 - ataxia oculomotor apraxia type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3442313016	SCAR1 - spinocerebellar ataxia autosomal recessive 1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3442314010	Spinocerebellar ataxia with axonal neuropathy type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3442316012	Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5403460019	A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403461015	A rare autosomal recessive cerebellar ataxia (ARCA), characterised by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3442311019	Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3442312014	AOA2 - ataxia oculomotor apraxia type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3442313016	SCAR1 - spinocerebellar ataxia autosomal recessive 1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3442314010	Spinocerebellar ataxia with axonal neuropathy type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3442316012	Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403460019	A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403461015	A rare autosomal recessive cerebellar ataxia (ARCA), characterised by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3392491001000118	Spinozerebelläre Ataxie mit axonaler Neuropathie Typ 2	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5766811000241111	ataxie cérébelleuse autosomique récessive avec apraxie oculomotrice de type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5766811000241111	ataxie cérébelleuse autosomique récessive avec apraxie oculomotrice de type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3392491001000118	Spinozerebelläre Ataxie mit axonaler Neuropathie Typ 2	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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