| spinocerebellaire ataxie type 46 (aandoening) | | spinocerebellaire ataxie type 46 | | SCA46
| | Spinocerebellar ataxia type 46 | | SCA46 - spinocerebellar ataxia type 46
| | A rare autosomal dominant cerebellar ataxia with characteristics of slowly progressive late-onset cerebellar ataxia variably combined with sensory axonal neuropathy. Patients may present gait and limb ataxia, dysarthria, abnormal oculomotor function and distal sensory impairment. Cerebellar atrophy is typically mild or absent. |
| | Id | 1279839002 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 589522 |
| SNOMED CT to ICD-10 extended map | | Target | G11.8 | | Rule | TRUE | | Advice | ALWAYS G11.8 | 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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