loading...| Preferred Name | congenital isolated hyperinsulinism | |
| Synonyms |
hyperinsulinemic hypoglycemia familial hyperinsulinism congenital hypoglycemia hyperinsulinemic of infancy hyperinsulinism familial with pancreatic nesidioblastosis 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 |
|
| altLabel |
hyperinsulinemic hypoglycemia familial hyperinsulinism congenital hypoglycemia hyperinsulinemic of infancy hyperinsulinism familial with pancreatic nesidioblastosis congenital hyperinsulinism persistent hyperinsulinemic hypoglycemia of infancy PHHI chi |
|
| 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 |
persistent hyperinsulinemic hypoglycemia of infancy PHHI chi |
|
| has_related_synonym |
hyperinsulinemic hypoglycemia familial hyperinsulinism congenital hypoglycemia hyperinsulinemic of infancy hyperinsulinism familial with pancreatic nesidioblastosis congenital hyperinsulinism |
|
| label |
congenital isolated hyperinsulinism |
|
| prefixIRI |
MONDO:0019010 |
|
| prefLabel |
congenital isolated hyperinsulinism |
|
| textual 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. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019716 http://purl.obolibrary.org/obo/MONDO_0017182 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0019010 | CCONT | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0019010 | MONDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0019010 | EFO | SAME_URI | |
| http://www.limics.org/hrdo/rdfns#pat_id_1025 | HRDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0019010 | CCONT | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0019010 | MONDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0019010 | EFO | LOOM | |
| http://www.orpha.net/ORDO/Orphanet_657 | ORDO | LOOM |