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autosomaal dominante myoglobinurie (aandoening)
autosomaal dominante myoglobinurie
Autosomal dominant myoglobinuria
A rare metabolic myopathy with characteristics of episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997.
Id725903003
StatusPrimitive
Has interpretationaangetoond
Interpretsbepalen van myoglobine in urine
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG72.8
TermOverige gespecificeerde myopathie├źn
TargetR82.1
TermMyoglobinurie
SNOMED CT to Orphanet simple map99846
SNOMED CT to ICD-10 extended map
TargetE75.5
RuleTRUE
AdviceALWAYS E75.5
CorrelationSNOMED CT source code to target map code correlation not specified
TargetG73.6
RuleTRUE
AdviceALWAYS G73.6 | THIS CODE MAY BE USED IN THE PRIMARY POSITION WHEN THE MANIFESTATION IS THE PRIMARY FOCUS OF CARE
CorrelationSNOMED CT source code to target map code correlation not specified