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maple syrup urine disease (aandoening)
maple syrup urine disease
MSUD
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Maple syrup urine disease
Branched-chain alpha-keto acid dehydrogenase deficiency
Branched chain ketoacid dehydrogenase deficiency
Ketoacid decarboxylase deficiency
MSUD - maple syrup urine disease
Oxo-acid decarboxylase deficiency
Branched chain ketoaciduria
Ketoacidemia
BCKD - branched-chain 2-ketoacid dehydrogenase deficiency
Id27718001
StatusPrimitive
Occurrencecongenitaal
Global Patient Set
General Practice / Family Practice reference set
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE71.0
TermMaple-syrup-urine disease
SNOMED CT to Orphanet simple map511
SNOMED CT to ICD-10 extended map
TargetE71.0
RuleTRUE
AdviceALWAYS E71.0
CorrelationSNOMED CT source code to target map code correlation not specified
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