1217230002: Cerebellar ataxia with oculomotor apraxia type 4 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia with oculomotor apraxia type 4
• \Head finding (finding)\Finding of brain\Disorder of brain\Chronic brain syndrome (disorder)\Cerebellar ataxia with oculomotor apraxia type 4
• \Head finding (finding)\Finding of brain\Disorder of brain\Extrapyramidal disease\Dystonia\Cerebellar ataxia with oculomotor apraxia type 4
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia with oculomotor apraxia type 4
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Cerebellar ataxia with oculomotor apraxia type 4
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Extrapyramidal disease\Dystonia\Cerebellar ataxia with oculomotor apraxia type 4
• \Finding of movement\Movement disorder\Extrapyramidal disease\Dystonia\Cerebellar ataxia with oculomotor apraxia type 4
• \Finding of coordination\Ataxia\...
• \Hereditary ataxia (disorder)\Cerebellar ataxia with oculomotor apraxia type 4
• \Cerebellar ataxia\Cerebellar ataxia with oculomotor apraxia type 4
• \General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Cerebellar ataxia with oculomotor apraxia type 4
• \General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Cerebellar ataxia with oculomotor apraxia type 4
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia with oculomotor apraxia type 4
• \Central nervous system finding\Finding of brain\Disorder of brain\Chronic brain syndrome (disorder)\Cerebellar ataxia with oculomotor apraxia type 4
• \Central nervous system finding\Finding of brain\Disorder of brain\Extrapyramidal disease\Dystonia\Cerebellar ataxia with oculomotor apraxia type 4
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia with oculomotor apraxia type 4
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Cerebellar ataxia with oculomotor apraxia type 4
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Extrapyramidal disease\Dystonia\Cerebellar ataxia with oculomotor apraxia type 4
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system (disorder)\Cerebellar ataxia with oculomotor apraxia type 4
• \Disorder of eye movements\Strabismus\Oculomotor apraxia (disorder)\Cerebellar ataxia with oculomotor apraxia type 4
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Cerebellar ataxia with oculomotor apraxia type 4
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Cerebellar ataxia with oculomotor apraxia type 4
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cerebellar ataxia with oculomotor apraxia type 4
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Cerebellar ataxia with oculomotor apraxia type 4
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Cerebellar ataxia with oculomotor apraxia type 4
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Cerebellar ataxia with oculomotor apraxia type 4
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Strabismus\Oculomotor apraxia (disorder)\Cerebellar ataxia with oculomotor apraxia type 4
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Peripheral nerve disease\Cerebellar ataxia with oculomotor apraxia type 4
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Cerebellar ataxia with oculomotor apraxia type 4
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic brain syndrome (disorder)\Cerebellar ataxia with oculomotor apraxia type 4
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the peripheral nervous system (disorder)\Peripheral nerve disease\Cerebellar ataxia with oculomotor apraxia type 4
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia with oculomotor apraxia type 4
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Cerebellar ataxia with oculomotor apraxia type 4
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Extrapyramidal disease\Dystonia\Cerebellar ataxia with oculomotor apraxia type 4
• \Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia with oculomotor apraxia type 4
• \Disease\Disorder of head (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Cerebellar ataxia with oculomotor apraxia type 4
• \Disease\Disorder of head (disorder)\Disorder of brain\Extrapyramidal disease\Dystonia\Cerebellar ataxia with oculomotor apraxia type 4
• \Disease\Movement disorder\Extrapyramidal disease\Dystonia\Cerebellar ataxia with oculomotor apraxia type 4
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic brain syndrome (disorder)\Cerebellar ataxia with oculomotor apraxia type 4
• \Disease\Disorder of soft tissue\Peripheral nerve disease\Cerebellar ataxia with oculomotor apraxia type 4

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5035225011	Cerebellar ataxia with oculomotor apraxia type 4 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5035226012	AOA4 - ataxia, oculomotor apraxia type 4	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5035229017	Cerebellar ataxia with oculomotor apraxia type 4	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5399928012	A rare autosomal recessive cerebellar ataxia characterized by onset of dystonia and other extrapyramidal signs, ataxia, oculomotor apraxia, and progressive sensorimotor polyneuropathy in the first decade of life. Patients present distal muscle weakness and atrophy, decreased vibratory sensation, and areflexia, and usually become wheelchair-bound by the third decade. Variable cognitive impairment may also be seen.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399929016	A rare autosomal recessive cerebellar ataxia characterised by onset of dystonia and other extrapyramidal signs, ataxia, oculomotor apraxia, and progressive sensorimotor polyneuropathy in the first decade of life. Patients present distal muscle weakness and atrophy, decreased vibratory sensation, and areflexia, and usually become wheelchair-bound by the third decade. Variable cognitive impairment may also be seen.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5035225011	Cerebellar ataxia with oculomotor apraxia type 4 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5035226012	AOA4 - ataxia, oculomotor apraxia type 4	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5035229017	Cerebellar ataxia with oculomotor apraxia type 4	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5035228013	A rare autosomal recessive cerebellar ataxia with characteristics of onset of dystonia and other extrapyramidal signs, ataxia, oculomotor apraxia and progressive sensorimotor polyneuropathy in the first decade of life. Patients present distal muscle weakness and atrophy, decreased vibratory sensation and areflexia, and usually become wheelchair-bound by the third decade. Variable cognitive impairment may also be seen.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399928012	A rare autosomal recessive cerebellar ataxia characterized by onset of dystonia and other extrapyramidal signs, ataxia, oculomotor apraxia, and progressive sensorimotor polyneuropathy in the first decade of life. Patients present distal muscle weakness and atrophy, decreased vibratory sensation, and areflexia, and usually become wheelchair-bound by the third decade. Variable cognitive impairment may also be seen.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399929016	A rare autosomal recessive cerebellar ataxia characterised by onset of dystonia and other extrapyramidal signs, ataxia, oculomotor apraxia, and progressive sensorimotor polyneuropathy in the first decade of life. Patients present distal muscle weakness and atrophy, decreased vibratory sensation, and areflexia, and usually become wheelchair-bound by the third decade. Variable cognitive impairment may also be seen.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
521151000274118	4	de	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3455451001000118	Ataxie mit okulomotorischer Apraxie Typ 4	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
521151000274118	4	de	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3455451001000118	Ataxie mit okulomotorischer Apraxie Typ 4	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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