| myoklonische epilepsie met 'ragged-red fibers' (aandoening) | | myoklonische epilepsie met 'ragged-red fibers' | | MERRF
|  | Dit betekent dat je bent geboren met epilepsie. Door epilepsie krijg je af en toe een aanval waarbij je de controle kwijtraakt over je lichaam, of een deel van je lichaam. Ook zijn je spieren zwak. Dit probleem zit in de familie. | | Myoclonic epilepsy with ragged red fibers | | MERRF - myoclonic epilepsy with ragged red fibers
Fukuhara syndrome
| | A mitochondrial encephalomyopathy with characteristics of myoclonic seizures. Patients usually present during adolescence or early adulthood with myoclonic epilepsy, sometimes with neurosensory deafness, optic atrophy, short stature or peripheral neuropathy. The disease is progressive with worsening of the epilepsy and onset of additional symptoms including ataxia, deafness, muscle weakness, and dementia. Caused by mutations in the mitochondrial DNA. |
| | Id | 230426003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G71.3 | | Term | Mitochondriën-myopathie, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 551 |
| SNOMED CT to ICD-10 extended map | | Target | G71.3 | | Rule | TRUE | | Advice | ALWAYS G71.3 | 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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