715366004: Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (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 1 (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder)
• \Finding of coordination\Ataxia\...
• \Hereditary ataxia (disorder)\Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder)
• \Cerebellar ataxia\Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (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 1 (disorder)
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system (disorder)\Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder)
• \Disorder of eye movements\Strabismus\Oculomotor apraxia (disorder)\Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (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 1 (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 1 (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (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 1 (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 1 (disorder)
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (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 1 (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 1 (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 1 (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3302367011	Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302368018	Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302370010	Autosomal recessive ataxia with oculomotor apraxia type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302371014	AOA1 (ataxia oculomotor apraxia type 1)	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3302375017	Ataxia oculomotor apraxia type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5400839017	A rare autosomal recessive cerebellar ataxia, characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400840015	A rare autosomal recessive cerebellar ataxia, characterised by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminaemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3302367011	Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302367011	Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302368018	Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302368018	Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302370010	Autosomal recessive ataxia with oculomotor apraxia type 1	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302370010	Autosomal recessive ataxia with oculomotor apraxia type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302371014	AOA1 (ataxia oculomotor apraxia type 1)	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3302375017	Ataxia oculomotor apraxia type 1	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302375017	Ataxia oculomotor apraxia type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302373012	A rare autosomal recessive cerebellar ataxia characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia. Cerebellar ataxia is the first manifestation of AOA1 with progressive gait imbalance followed by dysarthria, and limb dysmetria. Later, peripheral axonal motor neuropathy dominates the clinical picture. Oculomotor apraxia is present in almost all individuals with AOA1. Chorea is present at onset in 80% of patients and upper limb dystonia occurs in about 50% of individuals. Additional features include square wave jerks, saccadic pursuit and gaze-evoked nystagmus, areflexia followed by severe peripheral neuropathy. Variable intellectual disability is observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3302374018	A rare autosomal recessive cerebellar ataxia characterised by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminaemia. Cerebellar ataxia is the first manifestation of AOA1 with progressive gait imbalance followed by dysarthria, and limb dysmetria. Later, peripheral axonal motor neuropathy dominates the clinical picture. Oculomotor apraxia is present in almost all individuals with AOA1. Chorea is present at onset in 80% of patients and upper limb dystonia occurs in about 50% of individuals. Additional features include square wave jerks, saccadic pursuit and gaze-evoked nystagmus, areflexia followed by severe peripheral neuropathy. Variable intellectual disability is observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400839017	A rare autosomal recessive cerebellar ataxia, characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400840015	A rare autosomal recessive cerebellar ataxia, characterised by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminaemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3421961001000114	Ataxie mit okulomotorischer Apraxie Typ 1	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5816251000241113	ataxie cérébelleuse autosomique récessive avec apraxie oculomotrice de type 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5816251000241113	ataxie cérébelleuse autosomique récessive avec apraxie oculomotrice de type 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3421961001000114	Ataxie mit okulomotorischer Apraxie Typ 1	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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