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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.
Id766715000
StatusPrimitive
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG72.8
TermOverige gespecificeerde myopathie├źn
SNOMED CT to Orphanet simple map171690
SNOMED CT to ICD-10 extended map
TargetG72.8
RuleTRUE
AdviceALWAYS G72.8
CorrelationSNOMED CT source code to target map code correlation not specified