| metabole myopathie door lactaattransporterdefect (aandoening) | | metabole myopathie door lactaattransporterdefect | | erytrocyt-lactaattransporterdefect
| | Metabolic myopathy due to lactate transporter defect | | Erythrocyte lactate transporter defect
| | A rare metabolic myopathy with characteristics of muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria and elevation of serum creatine kinase. Caused by mutation in the SLC16A1 gene. |
| | Id | 766715000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G72.8 | | Term | Overige gespecificeerde myopathieën |
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| SNOMED CT to Orphanet simple map | 171690 |
| SNOMED CT to ICD-10 extended map | | Target | G72.8 | | Rule | TRUE | | Advice | ALWAYS G72.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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