abnormaal urinair product
congenitale myopathie
myoglobinurie
myopathie door lipidenstapeling
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genetische recidiverende myoglobinurie (aandoening)
genetische recidiverende myoglobinurie
Genetic recurrent myoglobinuria
Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers.
Id716721003
StatusPrimitive
Has interpretationaangetoond
Interpretsbepalen van myoglobine in urine
Finding sitestructuur van skeletspier
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetR82.1
TermMyoglobinurie
SNOMED CT to Orphanet simple map99845
SNOMED CT to ICD-10 extended map
TargetR82.1
RuleTRUE
AdviceALWAYS R82.1
CorrelationSNOMED CT source code to target map code correlation not specified