Propionic acidemia   69080001

SNOMED CT code


SNOMED code69080001
namePropionic acidemia
statusactive
date introduced2002-01-31
fully specified name(s)Propionic acidemia (disorder)
synonyms
  • Propionic acidemia
  • Propionyl-CoA carboxylase deficiency
  • PCC - Propionyl-CoA carboxylase deficiency
  • Propionic aciduria
  • Propionic acidaemia
  • Ketotic glycinaemia
  • Ketotic hyperglycinaemia
  • Hyperglycinaemia with ketosis and leucopenia
  • Hyperglycinemia with ketosis and leukopenia
  • Ketotic glycinemia
  • Ketotic hyperglycinemia
attributes - group1
OccurrenceCongenital   255399007
parents
  • Disorder of branched-chain amino acid metabolism   116020001
  • Non-amino organic acidemia AND/OR aciduria   26513001
  • Acidemia   70731005
  • Enzymopathy   78548001
  • Disorder of propionate AND/OR methylmalonate metabolism   84618009
  • Autosomal recessive hereditary disorder   85995004
  • Inborn error of metabolism   86095007
children
  • Propionic acidemia, type I   399087009
  • Propionic acidemia, type II   399149003
  • Propionyl-CoA carboxylase deficiency pccA complementation group   303094000
  • Propionyl-CoA carboxylase deficiency pccBC complementation group   303095004
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
                Propionic acidemia   69080001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of organic acid metabolism   116021002
          Non-amino organic acidemia AND/OR aciduria   26513001
            Propionic acidemia   69080001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of acid-base balance   26436007
          Acidemia   70731005
            Propionic acidemia   69080001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Enzymopathy   78548001
          Propionic acidemia   69080001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of organic acid metabolism   116021002
          Disorder of propionate AND/OR methylmalonate metabolism   84618009
            Propionic acidemia   69080001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Propionic acidemia   69080001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Propionic acidemia   69080001

ancestors
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