Tetrahydrobiopterin synthesis defect   68724006

SNOMED CT code


SNOMED code68724006
nameTetrahydrobiopterin synthesis defect
statusactive
date introduced2002-01-31
fully specified name(s)Tetrahydrobiopterin synthesis defect (disorder)
synonyms
  • Tetrahydrobiopterin synthesis defect
  • Hyperphenylalanineaemia due to BH4 (tetrahydrobiopterin) deficiency
  • Hyperphenylalanineaemia due to tetrahydrobiopterin deficiency
  • Hyperphenylalaninemia due to BH4 (tetrahydrobiopterin) deficiency
  • Deficiency of tetrahydrobiopterin
  • Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
parents
  • Disorder of tetrahydrobiopterin metabolism   237913008
  • Hyperphenylalaninemia   68528007
  • Autosomal recessive hereditary disorder   85995004
children
  • 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency   237914002
  • Dihydropteridine reductase deficiency   58256000
  • GTP cyclohydrolase I deficiency   23447005
  • Pterin-4-carbinolamine dehydratase deficiency   276261007
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 phenylalanine metabolism   12957008
                Disorder of tetrahydrobiopterin metabolism   237913008
                  Tetrahydrobiopterin synthesis defect   68724006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of acid-base balance   26436007
          Acidemia   70731005
            Aminoacidemia   46556004
              Hyperphenylalaninemia   68528007
                Tetrahydrobiopterin synthesis defect   68724006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Tetrahydrobiopterin synthesis defect   68724006

ancestors
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cpt crosswalks

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