Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2008. Module: SNOMED CT core
Descriptions:
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
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. | Is a | True | Vestibulo-ocular reflex absent | Inferred relationship | Some |
Reference Sets
Description inactivation indicator reference set