Sepiapterin reductase deficiency   45116002

SNOMED CT code


SNOMED code45116002
nameSepiapterin reductase deficiency
statusactive
date introduced2002-01-31
fully specified name(s)Sepiapterin reductase deficiency (disorder)
synonyms
  • Sepiapterin reductase deficiency
  • 7,8-Dihydrobiopterin synthetase deficiency
parents
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
                  Sepiapterin reductase deficiency   45116002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of acid-base balance   26436007
          Acidemia   70731005
            Aminoacidemia   46556004
              Hyperphenylalaninemia   68528007
                Sepiapterin reductase deficiency   45116002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Enzymopathy   78548001
          Sepiapterin reductase deficiency   45116002

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