Pyruvate carboxylase deficiency   87694001

SNOMED CT code


SNOMED code87694001
namePyruvate carboxylase deficiency
statusactive
date introduced2002-01-31
fully specified name(s)Pyruvate carboxylase deficiency (disorder)
synonyms
  • PC - Pyruvate carboxylase deficiency
  • Pyruvate carboxylase deficiency
  • PC deficiency
  • Ataxia with lactic acidosis II
  • Deficiency of pyruvic carboxylase
  • Deficiency of pyruvate carboxylase
attributes - group1
OccurrenceCongenital   255399007
parents
  • Inborn error of pyruvate metabolism   53210006
  • Enzymopathy   78548001
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Disorder of pyruvate metabolism and mitochondrial respiratory chain   237981000
            Inborn error of pyruvate metabolism   53210006
              Pyruvate carboxylase deficiency   87694001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Enzymopathy   78548001
          Pyruvate carboxylase deficiency   87694001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Pyruvate carboxylase deficiency   87694001

ancestors
sorted most to least specific
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