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Digestive System Diseases > Pancreatic Diseases > Congenital Hyperinsulinism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Infant, Newborn, Diseases > Congenital Hyperinsulinism
Nutritional and Metabolic Diseases > Metabolic Diseases > Glucose Metabolism Disorders > Hyperinsulinism > Congenital Hyperinsulinism
Nutritional and Metabolic Diseases > Metabolic Diseases > Glucose Metabolism Disorders > Hypoglycemia > Congenital Hyperinsulinism

Preferred term

Congenital Hyperinsulinism  

Type

  • mesh:Descriptor

Definition

  • A familial, nontransient HYPOGLYCEMIA with defects in negative feedback of GLUCOSE-regulated INSULIN release. Clinical phenotypes include HYPOGLYCEMIA; HYPERINSULINEMIA; SEIZURES; COMA; and often large BIRTH WEIGHT. Several sub-types exist with the most common, type 1, associated with mutations on an ATP-BINDING CASSETTE TRANSPORTERS (subfamily C, member 8).

Broader concept

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Related concepts

Entry terms

  • Familial Hyperinsulinism
  • Hyperinsulinemia Hypoglycemia of Infancy
  • Hyperinsulinemic Hypoglycemia, Persistent
  • Hyperinsulinism, Congenital
  • Hyperinsulinism, Familial
  • Hyperinsulinism, Neonatal
  • Hypoglycemia, Hyperinsulinemic, of Infancy
  • Infancy Hyperinsulinemia Hypoglycemia
  • Neonatal Hyperinsulinism
  • Persistent Hyperinsulinemia Hypoglycemia of Infancy
  • Persistent Hyperinsulinemic Hypoglycemia
  • PHHI Hypoglycemia

Allowable Qualifier(s)

In other languages

  • Hyperinsulinisme congénital

    French

  • HHPE
  • Hyperinsulinisme congénital de l'enfant
  • Hypoglycémie hyperinsulinique persistante de l'enfance
  • Hypoglycémie hyperinsulinique persistante du nourrisson

URI

http://data.loterre.fr/ark:/67375/JVR-BJNLVHHD-T

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RDF/XML TURTLE JSON-LD Created 7/9/03, last modified 7/8/13