| gecombineerd defect in oxidatieve fosforylering type 13 (aandoening) | | gecombineerd defect in oxidatieve fosforylering type 13 | | COXPD13
gecombineerd defect in OXPHOS type 13
| | Combined oxidative phosphorylation defect type 13 | | COXPD13 - combined oxidative phosphorylation defect type 13
| | A rare mitochondrial disease due to a defect in mitochondrial protein synthesis with characteristics of normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesia) and reduced tendon reflexes. The disease course is severe but nonprogressive. |
| | Id | 763110007 | | 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 | 319514 |
| 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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