| 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
| | This syndrome has characteristics of adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia. The prevalence is unknown. Other common features include progressive gait unsteadiness, absent deep tendon reflexes, the presence of Romberg's sign, a decreased sense of vibration and proprioception and detection of red ragged fibers on muscle biopsy. The syndrome is associated with mitochondrial DNA mutations in either the POLG1 or TWINKLE genes. |
| | 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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