| zuivere mitochondriale myopathie (aandoening) | | zuivere mitochondriale myopathie | | pure mitochondriale myopathie
| | Pure mitochondrial myopathy | | A rare mitochondrial disease with characteristics of exclusive skeletal muscle involvement without clinical evidence of other organ involvement. Disease manifestations are progressive limb weakness, proximal limb muscle atrophy and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia and diminished deep tendon reflexes. |
| | Id | 732245008 | | 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 | 254854 |
| SNOMED CT to ICD-10 extended map | | Target | G71.3 | | Rule | TRUE | | Advice | ALWAYS G71.3 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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