Auditory system hereditary disorder
Autosomal recessive hereditary disorder
Cerebellar ataxia
Chronic bilateral vestibulopathy
Chronic brain syndrome
Hereditary ataxia
Peripheral nerve disease
Vestibulo-ocular reflex absent
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Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
CABV (cerebellar ataxia, bilateral vestibulopathy) syndrome
Cerebellar ataxia with bilateral vestibulopathy syndrome
CANVAS - cerebellar ataxia, neuropathy, vestibular areflexia syndrome
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.
Id1236804009
StatusPrimitive
Clinical courseProgressive
Finding siteCerebellar structure
Finding siteLeft labyrinth structure
Finding siteRight labyrinth structure
Finding sitePeripheral nerve structure
Has interpretationAbsent
InterpretsVestibulo-ocular reflex
ICD-10 complex map reference set
TargetG11.2
RuleTRUE
AdviceALWAYS G11.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified