| syndroom van cerebellaire ataxie met neuropathie en bilaterale vestibulaire areflexie (aandoening) | | syndroom van cerebellaire ataxie met neuropathie en bilaterale vestibulaire areflexie | | CANVAS
| | 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. |
| | Id | 1236804009 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 504476 |
| SNOMED CT to ICD-10 extended map | | Target | G11.2 | | Rule | TRUE | | Advice | ALWAYS G11.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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