Autosomal recessive hereditary disorder
Disorder of branched-chain amino acid metabolism
Enzymopathy
Inborn error of metabolism
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Maple syrup urine disease (disorder)
Maple syrup urine disease
MSUD
Branched-chain alpha-keto acid dehydrogenase deficiency
Branched chain ketoacid dehydrogenase deficiency
BCKD deficiency
Ketoacid decarboxylase deficiency
MSUD - Maple syrup urine disease
Oxo-acid decarboxylase deficiency
Branched chain ketoaciduria
Ketoacidemia
BCKD - Branched chain alpha-ketoacid dehydrogenase deficiency
maple syrup urine disease
MSUD
Id27718001
StatusPrimitive
OccurrenceCongenital
General Practice / Family Practice reference set
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetE71.0
RuleTRUE
AdviceALWAYS E71.0
CorrelationSNOMED CT source code to target map code correlation not specified
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Classical maple syrup urine disease
Dihydrolipoamide dehydrogenase deficiency
Intermediate maple syrup urine disease
Intermittent maple syrup urine disease
Maple syrup urine disease, multiple dehydrogenase form
Mild maple syrup urine disease
Thiamin-responsive maple syrup urine disease