loading...| Preferred Name | congenital isolated hyperinsulinism | |
| Synonyms |
hypoglycemia hyperinsulinemic of infancy hyperinsulinism familial with pancreatic nesidioblastosis hyperinsulinism congenital hyperinsulinemic hypoglycemia familial congenital hyperinsulinism Congenital Hyperinsulinism persistent hyperinsulinemic hypoglycemia of infancy PHHI chi |
|
| Definitions |
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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019010 |
|
| database_cross_reference |
NCIT:C122923 Orphanet:657 GARD:3947 NORD:999 |
|
| definition |
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. |
|
| has_exact_synonym |
Congenital Hyperinsulinism persistent hyperinsulinemic hypoglycemia of infancy PHHI chi |
|
| has_related_synonym |
hypoglycemia hyperinsulinemic of infancy hyperinsulinism familial with pancreatic nesidioblastosis hyperinsulinism congenital hyperinsulinemic hypoglycemia familial congenital hyperinsulinism |
|
| id |
MONDO:0019010 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
congenital isolated hyperinsulinism |
|
| notation |
MONDO:0019010 |
|
| preferred label |
congenital isolated hyperinsulinism |
|
| prefLabel |
congenital isolated hyperinsulinism |
|
| skos_exactMatch | ||
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019716 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0019010 | MONDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0019010 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0019010 | DOVES | SAME_URI | |
| http://www.limics.org/hrdo/rdfns#pat_id_1025 | HRDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0019010 | MONDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0019010 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0019010 | DOVES | LOOM | |
| http://www.orpha.net/ORDO/Orphanet_657 | ORDO | LOOM |