Autosomal dominant hereditary disorder
Congenital disease
Congenital myopathy
Hereditary disorder of musculoskeletal system
Hereditary myopathy
Metabolic myopathy
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Metabolic myopathy due to lactate transporter defect (disorder)
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.
metabole myopathie door lactaattransporterdefect
erytrocyt-lactaattransporterdefect
Id766715000
StatusPrimitive
Finding siteSkeletal muscle structure
OccurrenceCongenital
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG72.8
RuleTRUE
AdviceALWAYS G72.8
CorrelationSNOMED CT source code to target map code correlation not specified