Isovaleryl-CoA dehydrogenase deficiency   87827003

SNOMED CT code


SNOMED code87827003
nameIsovaleryl-CoA dehydrogenase deficiency
statusactive
date introduced2002-01-31
fully specified name(s)Isovaleryl-coenzyme A dehydrogenase deficiency (disorder)
synonyms
  • Isovaleric acid-CoA dehydrogenase deficiency
  • Isovaleryl-CoA dehydrogenase deficiency
  • Isovaleric acidemia
  • Isovaleric acid CoA dehydrogenase deficiency
  • Isovaleryl-coenzyme A dehydrogenase deficiency
  • Isovaleric acidaemia
attributes - group1
OccurrenceCongenital   255399007
parents
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
                Isovaleryl-CoA dehydrogenase deficiency   87827003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of acid-base balance   26436007
          Acidemia   70731005
            Isovaleryl-CoA dehydrogenase deficiency   87827003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Enzymopathy   78548001
          Isovaleryl-CoA dehydrogenase deficiency   87827003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Isovaleryl-CoA dehydrogenase deficiency   87827003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Isovaleryl-CoA dehydrogenase deficiency   87827003

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