Ornithine carbamoyltransferase deficiency   80908008

SNOMED CT code


SNOMED code80908008
nameOrnithine carbamoyltransferase deficiency
statusactive
date introduced2002-01-31
fully specified name(s)Ornithine carbamoyltransferase deficiency (disorder)
synonyms
  • Ornithine carbamoyltransferase deficiency
  • Ornithine transcarbamylase deficiency
  • Deficiency of citrulline phosphorylase
  • Ornithine transcarbamoylase deficiency
  • Deficiency of ornithine carbamoyltransferase
  • Deficiency of ornithine transcarbamylase
  • OCT (ornithine carbamoyltransferase) deficiency
  • OTC (ornithine transcarbamylase) deficiency
  • OTC-gene related ornithine carbamoyltransferase deficiency
attributes - group1
OccurrenceCongenital   255399007
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Enzymopathy   78548001
          Ornithine carbamoyltransferase deficiency   80908008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Sex-linked hereditary disorder   82852009
            Ornithine carbamoyltransferase deficiency   80908008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Ornithine carbamoyltransferase deficiency   80908008

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 the urea cycle metabolism   36444000
                Hyperammonemia   9360008
                  Ornithine carbamoyltransferase deficiency   80908008

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