Glutamate formiminotransferase deficiency   59761008

SNOMED CT code


SNOMED code59761008
nameGlutamate formiminotransferase deficiency
statusactive
date introduced2002-01-31
fully specified name(s)Glutamate formiminotransferase deficiency (disorder)
synonyms
  • Deficiency of glutamate formiminotransferase
  • Deficiency of glutamate formyltransferase
  • Glutamate formiminotransferase deficiency
  • FIGLUria
  • Formiminoglutamic aciduria
attributes - group1
OccurrenceCongenital   255399007
parents
  • Disorder of sulfur-bearing amino acid metabolism   28882002
  • Inherited disorder of folate metabolism   4702003
  • Enzymopathy   78548001
  • Autosomal recessive hereditary disorder   85995004
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 sulfur-bearing amino acid metabolism   28882002
                Glutamate formiminotransferase deficiency   59761008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of organic acid metabolism   116021002
          Inherited disorder of folate metabolism   4702003
            Glutamate formiminotransferase deficiency   59761008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Enzymopathy   78548001
          Glutamate formiminotransferase deficiency   59761008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Glutamate formiminotransferase deficiency   59761008

ancestors
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