| 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
| | Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by 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 dyskinesias) 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 | E88.8 | | Rule | TRUE | | Advice | ALWAYS E88.8 | 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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