Congenital myopathy
Lipid storage myopathy
Myoglobinuria
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Genetic recurrent myoglobinuria (disorder)
Genetic recurrent myoglobinuria
An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria.
genetische recidiverende myoglobinurie
Id716721003
StatusPrimitive
Has interpretationPresent
InterpretsMyoglobin measurement, urine
InterpretsUrine observable
Finding siteSkeletal muscle structure
OccurrenceCongenital
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetR82.1
RuleTRUE
AdviceALWAYS R82.1
CorrelationSNOMED CT source code to target map code correlation not specified