syndroom van sensorische atactische neuropathie, dysartrie en oftalmoparese (aandoening) | | syndroom van sensorische atactische neuropathie, dysartrie en oftalmoparese | | syndroom van sensorische atactische neuropathie, dysartrie en oftalmoplegie SANDO
| | Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome | | SANDO (sensory ataxic neuropathy dysarthria ophthalmoparesis) syndrome
| | A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions. |
| Id | 717266001 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
SNOMED CT to Orphanet simple map | 70595 |
SNOMED CT to ICD-10 extended map | Target | G60.2 | Rule | TRUE | Advice | ALWAYS G60.2 | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | R47.1 | Rule | TRUE | Advice | ALWAYS R47.1 | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | H49.4 | Rule | TRUE | Advice | ALWAYS H49.4 | Correlation | SNOMED CT source code to target map code correlation not specified |
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