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congenital isolated hyperinsulinism

Go to external page http://purl.obolibrary.org/obo/MONDO_0019010

Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism. [ Orphanet:657 ]

Synonyms: persistent hyperinsulinemic hypoglycemia of infancy chi PHHI

This is just here as a test because I lose it

Term information

database cross reference
  • NORD:999 (MONDO:NORD)
  • GARD:3947 (Orphanet:657)
  • Orphanet:657 (MONDO:equivalentTo)
  • NCIT:C122923 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, rare, nord_rare, orphanet_rare, ordo_group_of_disorders

exactMatch

http://www.orpha.net/ORDO/Orphanet_657

http://purl.obolibrary.org/obo/NCIT_C122923

has related synonym

hyperinsulinism familial with pancreatic nesidioblastosis

hyperinsulinemic hypoglycemia familial

hyperinsulinism congenital

congenital hyperinsulinism

hypoglycemia hyperinsulinemic of infancy

id

MONDO:0019010