Hyperinsulinism and hyperammonemia syndrome   718106009

SNOMED CT code


SNOMED code718106009
nameHyperinsulinism and hyperammonemia syndrome
statusactive
date introduced2016-07-31
fully specified name(s)Hyperinsulinism and hyperammonemia syndrome (disorder)
synonyms
  • Hyperinsulinism and hyperammonemia syndrome
  • Hyperinsulinism and hyperammonaemia syndrome
  • GLUD1 related hyperinsulinism and hyperammonaemia syndrome
  • Glutamate dehydrogenase 1 related hyperinsulinism and hyperammonemia syndrome
  • GLUD1 related hyperinsulinism and hyperammonemia syndrome
  • Glutamate dehydrogenase 1 related hyperinsulinism and hyperammonaemia syndrome
attributes - group1
OccurrenceCongenital   255399007
Finding siteEndocrine pancreatic structure   78696007
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Hyperinsulinism and hyperammonemia syndrome   718106009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Disorder of digestive system   53619000
        Digestive system hereditary disorder   363080007
          Hyperinsulinism and hyperammonemia syndrome   718106009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of endocrine system   362969004
          Hereditary disorder of endocrine system   363104002
            Hyperinsulinism and hyperammonemia syndrome   718106009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of carbohydrate metabolism   20957000
          Disorder of glucose regulation   237597000
            Hyperinsulinism   83469008
              Hyperinsulinism and hyperammonemia syndrome   718106009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Hyperinsulinism and hyperammonemia syndrome   718106009

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
                  Hyperinsulinism and hyperammonemia syndrome   718106009

ancestors
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