Homogentisate 1,2-dioxygenase deficiency   360378009

SNOMED CT code


SNOMED code360378009
nameHomogentisate 1,2-dioxygenase deficiency
statusactive
date introduced2002-01-31
fully specified name(s)Homogentisate 1,2-dioxygenase deficiency (disorder)
synonyms
  • Hereditary ochronosis
  • Alkaptonuria
  • Homogentisicaciduria
  • Deficiency of homogentisate 1,2-dioxygenase
  • Deficiency of homogentisate oxygenase
  • Homogentisic acid oxidase deficiency
  • Deficiency of homogentisicase
  • Homogentisate 1,2-dioxygenase deficiency
parents
  • Specific enzyme deficiency   129456006
  • Disturbance of tyrosine metabolism   37200009
  • Autosomal recessive hereditary disorder   85995004
childrenOchronosis   21924005  removed: 2004-07-31
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Enzymopathy   78548001
          Specific enzyme deficiency   129456006
            Homogentisate 1,2-dioxygenase deficiency   360378009

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
              Disturbance of tyrosine metabolism   37200009
                Homogentisate 1,2-dioxygenase deficiency   360378009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Homogentisate 1,2-dioxygenase deficiency   360378009

ancestors
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