FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

1363361006: Diazoxide-sensitive diffuse hyperinsulinism (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Apr 2025. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5448533011 Hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5448534017 Diazoxide-sensitive diffuse hyperinsulinism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5448535016 Diazoxide-sensitive diffuse hyperinsulinism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5448536015 Hyperinsulinemic hypoglycaemia, diazoxide-sensitive diffuse form en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

9 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Diazoxide-sensitive diffuse hyperinsulinism Is a Persistent hyperinsulinemic hypoglycemia of infancy (disorder) true Inferred relationship Some
Diazoxide-sensitive diffuse hyperinsulinism Finding site Endocrine pancreatic structure true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
A form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (recessive forms of diazoxide-resistant hyperinsulinism). Is a True Diazoxide-sensitive diffuse hyperinsulinism Inferred relationship Some
A form of congenital diazoxide-sensitive diffuse hyperinsulinism due to ABCC8 variants and characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually have a good clinical response to diazoxide. The autosomal dominant hyperinsulinism usually has a milder phenotype when compared to that resulting from recessive potassium (K-ATP) channel mutations. Is a True Diazoxide-sensitive diffuse hyperinsulinism Inferred relationship Some
A form of diffuse hyperinsulinism due to glucokinase hyperactivity and characterized by an excessive/uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of hypoglycemia induced by fasting and glucose rich meals. The clinical spectrum can range from mild and intermediate cases that respond well to dietary modifications and medical management with diazoxide to severe cases that are unresponsive to diazoxide. The potential development of type 2 diabetes with age is another notable feature. Is a True Diazoxide-sensitive diffuse hyperinsulinism Inferred relationship Some
Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving into maturity-onset diabetes of the young subtype 1 later in life. Is a True Diazoxide-sensitive diffuse hyperinsulinism Inferred relationship Some
A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. Presentation is of recurring episodes of hypoglycemia associated with elevated insulin levels, within 30 minutes of a short period of anaerobic exercise. The degree of hypoglycemia associated with exercise is variable and is only partially responsive to diazoxide. Is a True Diazoxide-sensitive diffuse hyperinsulinism Inferred relationship Some
A form of diazoxide-sensitive diffuse congenital hyperinsulinism due to HNF4A deficiency and, characterised by macrosomia, transient or persistent hyperinsulinaemic hypoglycaemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY). Is a True Diazoxide-sensitive diffuse hyperinsulinism Inferred relationship Some
A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD; HADH gene) deficiency and characterized by hyperinsulinemic hypoglycemia with seizures and reported to respond well to diazoxide. It presents with the classical manifestations of hyperinsulinemic hypoglycemia. Exceptional complications include sudden death, and in one case fulminant hepatic failure. Is a True Diazoxide-sensitive diffuse hyperinsulinism Inferred relationship Some
A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to UCP2 deficiency and characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution. Is a True Diazoxide-sensitive diffuse hyperinsulinism Inferred relationship Some
A rare diffuse form of congenital hyperinsulinism characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), chronic hyperammonemia and recurrent episodes of hypoglycemia induced by fasting and protein rich meals. Epilepsy and cognitive deficit, which are unrelated to hypoglycemia but possibly related to the chronic hyperammonemia, may also occur. This disorder is usually responsive to diazoxide treatment. Is a True Diazoxide-sensitive diffuse hyperinsulinism Inferred relationship Some

This concept is not in any reference sets

Back to Start