Maple syrup urine disease   27718001

SNOMED CT code


SNOMED code27718001
nameMaple syrup urine disease
statusactive
date introduced2002-01-31
fully specified name(s)Maple syrup urine disease (disorder)
synonyms
  • Branched chain ketoacid dehydrogenase deficiency
  • Oxo-acid decarboxylase deficiency
  • Ketoacidemia
  • Branched chain ketoaciduria
  • Maple syrup urine disease
  • Branched-chain alpha-keto acid dehydrogenase deficiency
  • Ketoacid decarboxylase deficiency
  • Ketoacidaemia
  • BCKD - branched-chain 2-ketoacid dehydrogenase deficiency
  • MSUD - maple syrup urine disease
attributes - group1
OccurrenceCongenital   255399007
parents
  • Disorder of branched-chain amino acid metabolism   116020001
  • Enzymopathy   78548001
  • Autosomal recessive hereditary disorder   85995004
  • Inborn error of metabolism   86095007
children
  • Classical maple syrup urine disease   54064006
  • Dihydrolipoamide dehydrogenase deficiency   29914000
  • Intermediate maple syrup urine disease   405287008
  • Intermittent maple syrup urine disease   22710004  removed: 2004-01-31
  • Intermittent maple syrup urine disease   405288003
  • Maple syrup urine disease, multiple dehydrogenase form   71702000
  • Mild maple syrup urine disease   23156007
  • Thiamin-responsive maple syrup urine disease   31368008
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of organic acid metabolism   116021002
          Disorder of amino acid metabolism   44779003
            Disorder of amino acid and organic acid metabolism   237911005
              Disorder of branched-chain amino acid metabolism   116020001
                Maple syrup urine disease   27718001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Enzymopathy   78548001
          Maple syrup urine disease   27718001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Maple syrup urine disease   27718001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Maple syrup urine disease   27718001

ancestors
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