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Concept information

Preferred term

Congenital Hyperinsulinism  

Type

  • Topical Descriptor

Narrower concepts

Entry terms

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

Scope note

  • 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).

History note

  • 2014(2004)

In other languages

URI

http://www.yso.fi/onto/mesh/D044903

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