Autosomal recessive hyperinsulinism due to SUR1 deficiency   783767001

SNOMED CT code


SNOMED code783767001
nameAutosomal recessive hyperinsulinism due to SUR1 deficiency
statusactive
date introduced2019-07-31
fully specified name(s)Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
synonyms
  • Autosomal recessive hyperinsulinism due to SUR1 deficiency
  • Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency
  • Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency
  • Autosomal recessive hyperinsulinemic hypoglycaemia due to SUR1 deficiency
attributes - group1
OccurrenceCongenital   255399007
Finding siteEndocrine pancreatic structure   78696007
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Disorder of digestive system   53619000
        Digestive system hereditary disorder   363080007
          Autosomal recessive hyperinsulinism due to SUR1 deficiency   783767001

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
            Autosomal recessive hyperinsulinism due to SUR1 deficiency   783767001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Autosomal recessive hyperinsulinism due to SUR1 deficiency   783767001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of carbohydrate metabolism   20957000
          Disorder of glucose regulation   237597000
            Hyperinsulinism   83469008
              Autosomal recessive hyperinsulinism due to SUR1 deficiency   783767001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Autosomal recessive hyperinsulinism due to SUR1 deficiency   783767001

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