1236804009: Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Chronic brain syndrome (disorder)\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Head finding (finding)\Finding of head region\Vestibular system finding (finding)\Vestibulo-ocular reflex finding\Vestibulo-ocular reflex absent\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Head finding (finding)\Finding of head region\Vestibular system finding (finding)\Labyrinthine disorder\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Head finding (finding)\Finding of head region\Ear finding (finding)\Disorder of ear\Disorder of right ear (disorder)\Disorder of bilateral ears (disorder)\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Head finding (finding)\Finding of head region\Ear finding (finding)\Disorder of ear\Disorder of left ear (disorder)\Disorder of bilateral ears (disorder)\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Head finding (finding)\Finding of head region\Ear finding (finding)\Disorder of ear\Disorder of inner ear (disorder)\Labyrinthine disorder\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Head finding (finding)\Finding of head region\Ear finding (finding)\Disorder of ear\Chronic disease of ear (disorder)\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Disorder of right ear (disorder)\Disorder of bilateral ears (disorder)\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Disorder of left ear (disorder)\Disorder of bilateral ears (disorder)\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Disorder of inner ear (disorder)\Labyrinthine disorder\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Chronic disease of ear (disorder)\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Finding of coordination\Ataxia\...
• \Hereditary ataxia (disorder)\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Cerebellar ataxia\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Ear, nose and throat finding\Ear finding (finding)\Disorder of ear\Disorder of right ear (disorder)\Disorder of bilateral ears (disorder)\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Ear, nose and throat finding\Ear finding (finding)\Disorder of ear\Disorder of left ear (disorder)\Disorder of bilateral ears (disorder)\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Ear, nose and throat finding\Ear finding (finding)\Disorder of ear\Disorder of inner ear (disorder)\Labyrinthine disorder\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Ear, nose and throat finding\Ear finding (finding)\Disorder of ear\Chronic disease of ear (disorder)\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Ear, nose and throat finding\affection de l'oreille, du nez et de la gorge\Disorder of ear\Disorder of right ear (disorder)\Disorder of bilateral ears (disorder)\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Ear, nose and throat finding\affection de l'oreille, du nez et de la gorge\Disorder of ear\Disorder of left ear (disorder)\Disorder of bilateral ears (disorder)\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Ear, nose and throat finding\affection de l'oreille, du nez et de la gorge\Disorder of ear\Disorder of inner ear (disorder)\Labyrinthine disorder\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Ear, nose and throat finding\affection de l'oreille, du nez et de la gorge\Disorder of ear\Chronic disease of ear (disorder)\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Chronic brain syndrome (disorder)\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Ear and auditory finding\Disorder of auditory system\Disorder of ear\Disorder of right ear (disorder)\Disorder of bilateral ears (disorder)\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Ear and auditory finding\Disorder of auditory system\Disorder of ear\Disorder of left ear (disorder)\Disorder of bilateral ears (disorder)\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Ear and auditory finding\Disorder of auditory system\Disorder of ear\Disorder of inner ear (disorder)\Labyrinthine disorder\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Ear and auditory finding\Disorder of auditory system\Disorder of ear\Chronic disease of ear (disorder)\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Ear and auditory finding\Ear finding (finding)\Disorder of ear\Disorder of right ear (disorder)\Disorder of bilateral ears (disorder)\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Ear and auditory finding\Ear finding (finding)\Disorder of ear\Disorder of left ear (disorder)\Disorder of bilateral ears (disorder)\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Ear and auditory finding\Ear finding (finding)\Disorder of ear\Disorder of inner ear (disorder)\Labyrinthine disorder\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Ear and auditory finding\Ear finding (finding)\Disorder of ear\Chronic disease of ear (disorder)\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Neurological finding\Reflex finding\...
• \Cranial nerve reflex finding\Vestibulo-ocular reflex finding\Vestibulo-ocular reflex absent\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Absent reflex\Vestibulo-ocular reflex absent\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Disorder of right ear (disorder)\Disorder of bilateral ears (disorder)\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Disorder of left ear (disorder)\Disorder of bilateral ears (disorder)\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Disorder of inner ear (disorder)\Labyrinthine disorder\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Chronic disease of ear (disorder)\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Disorder of right ear (disorder)\Disorder of bilateral ears (disorder)\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Disorder of left ear (disorder)\Disorder of bilateral ears (disorder)\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Disorder of inner ear (disorder)\Labyrinthine disorder\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Chronic disease of ear (disorder)\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Peripheral nerve disease\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic brain syndrome (disorder)\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the peripheral nervous system (disorder)\Peripheral nerve disease\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (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\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \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 neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Disease\affection de l'oreille, du nez et de la gorge\Disorder of ear\Disorder of right ear (disorder)\Disorder of bilateral ears (disorder)\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Disease\affection de l'oreille, du nez et de la gorge\Disorder of ear\Disorder of left ear (disorder)\Disorder of bilateral ears (disorder)\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Disease\affection de l'oreille, du nez et de la gorge\Disorder of ear\Disorder of inner ear (disorder)\Labyrinthine disorder\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Disease\affection de l'oreille, du nez et de la gorge\Disorder of ear\Chronic disease of ear (disorder)\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of ear\Disorder of right ear (disorder)\Disorder of bilateral ears (disorder)\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of ear\Disorder of left ear (disorder)\Disorder of bilateral ears (disorder)\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of ear\Disorder of inner ear (disorder)\Labyrinthine disorder\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of ear\Chronic disease of ear (disorder)\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Disease\Chronic disease\Chronic disease of ear (disorder)\Chronic bilateral vestibulopathy\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic brain syndrome (disorder)\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
• \Disease\Disorder of soft tissue\Peripheral nerve disease\Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5089111010	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5089112015	Cerebellar ataxia with bilateral vestibulopathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5089113013	CANVAS - cerebellar ataxia, neuropathy, vestibular areflexia syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5089114019	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5089115018	CABV (cerebellar ataxia, bilateral vestibulopathy) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400239012	A rare slowly progressive autosomal recessive syndromic cerebellar ataxia characterized by late-onset cerebellar dysfunction (including gait and limb ataxia, nystagmus, and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex), and axonal sensory neuropathy. Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400240014	A rare slowly progressive autosomal recessive syndromic cerebellar ataxia characterised by late-onset cerebellar dysfunction (including gait and limb ataxia, nystagmus, and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex), and axonal sensory neuropathy. Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5089111010	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5089112015	Cerebellar ataxia with bilateral vestibulopathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5089113013	CANVAS - cerebellar ataxia, neuropathy, vestibular areflexia syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5089114019	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5089115018	CABV (cerebellar ataxia, bilateral vestibulopathy) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5089116017	A rare slowly progressive autosomal recessive syndromic cerebellar ataxia with characteristics of late-onset cerebellar dysfunction (including gait and limb ataxia, nystagmus and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex) and axonal sensory neuropathy. Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400239012	A rare slowly progressive autosomal recessive syndromic cerebellar ataxia characterized by late-onset cerebellar dysfunction (including gait and limb ataxia, nystagmus, and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex), and axonal sensory neuropathy. Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400240014	A rare slowly progressive autosomal recessive syndromic cerebellar ataxia characterised by late-onset cerebellar dysfunction (including gait and limb ataxia, nystagmus, and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex), and axonal sensory neuropathy. Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

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