83469008: Hyperinsulinism (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Abdominal organ finding\Finding of pancreas\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism

\Digestive system finding (finding)\Finding of pancreas\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism

\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose regulation\Hyperinsulinism

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hyperinsulinism	Is a	Disorder of glucose regulation	true	Inferred relationship	Some
Hyperinsulinism	Finding site	Entire endocrine gonad (body structure)	false	Inferred relationship	Some
Hyperinsulinism	Is a	Disorder of endocrine pancreas	true	Inferred relationship	Some
Hyperinsulinism	Finding site	Endocrine pancreatic structure	true	Inferred relationship	Some	1
Hyperinsulinism	Finding site	Structure of digestive system (body structure)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Self-induced hyperinsulinaemia	Is a	True	Hyperinsulinism	Inferred relationship	Some
Drug-induced hyperinsulinemia	Is a	True	Hyperinsulinism	Inferred relationship	Some
Alimentary hyperinsulinaemia	Is a	True	Hyperinsulinism	Inferred relationship	Some
Hyperinsulinemia due to insulinoma	Is a	False	Hyperinsulinism	Inferred relationship	Some
Functional hyperinsulinism	Is a	True	Hyperinsulinism	Inferred relationship	Some
Impaired glucose tolerance with hyperinsulism (disorder)	Is a	True	Hyperinsulinism	Inferred relationship	Some
Persistent hyperinsulinemic hypoglycemia of infancy	Is a	False	Hyperinsulinism	Inferred relationship	Some
Persistent hyperinsulinemic hypoglycemia of infancy (disorder)	Is a	False	Hyperinsulinism	Inferred relationship	Some
Ectopic hyperinsulinism	Is a	True	Hyperinsulinism	Inferred relationship	Some
Iatrogenic hyperinsulinism	Is a	True	Hyperinsulinism	Inferred relationship	Some
Other hyperinsulinism	Is a	False	Hyperinsulinism	Inferred relationship	Some
Idiopathic transient neonatal hyperinsulinaemia	Is a	True	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	False	Hyperinsulinism	Inferred relationship	Some
A rare familial hyperinsulinism characterized by postprandial hyperinsulinemic hypoglycemia, negative 72-hour fasts, negative preoperative localization studies for insulinoma, and positive selective arterial calcium infusion tests. Histopathological analysis reveals diffuse islet hyperplasia with increased number and size of islet cells.	Is a	False	Hyperinsulinism	Inferred relationship	Some
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	False	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	False	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	False	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	False	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	False	Hyperinsulinism	Inferred relationship	Some
Hyperinsulinism due to focal adenomatous hyperplasia (disorder)	Is a	True	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	False	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	False	Hyperinsulinism	Inferred relationship	Some
A rare autosomal dominant form of familial hyperinsulinism characterized clinically by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.	Is a	False	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	False	Hyperinsulinism	Inferred relationship	Some
Transient neonatal hypoglycemia due to hyperinsulinemia (disorder)	Due to	True	Hyperinsulinism	Inferred relationship	Some	1
A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to a mutation in the ABCC8 gene. Pancreatic involvement is focal and can be cured by a selective partial pancreatectomy. Hypoglycemia may lead to variable clinical manifestations, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome.	Is a	False	Hyperinsulinism	Inferred relationship	Some
A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome.	Is a	False	Hyperinsulinism	Inferred relationship	Some
A rare, congenital, isolated hyperinsulinism disorder characterized by neonatal presentation of severe refractory hypoglycemia in the first two days of life, with limited response to medical management, sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to Kir6.2 deficiency. Persistent hypoglycemia, hyperglycemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated.	Is a	False	Hyperinsulinism	Inferred relationship	Some
A rare, congenital, isolated hyperinsulinism disorder characterized by neonatal presentation of severe refractory hypoglycemia in the first two days of life, with limited response to medical management, sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to SUR1 deficiency. Persistent hypoglycemia, hyperglycemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated.	Is a	False	Hyperinsulinism	Inferred relationship	Some
Hyperinsulinemia due to malignant insulinoma	Is a	True	Hyperinsulinism	Inferred relationship	Some
hyperinsulinisme dû à un insulinome bénin	Is a	False	Hyperinsulinism	Inferred relationship	Some
A rare endocrine disease characterised by hyperinsulinaemic hypoglycaemia associated with the presence of autoantibodies to endogenous insulin without previous exposure to exogenous insulin. Patients usually present in adulthood with postprandial, fasting or exercise-induced hypoglycaemia, often with pronounced neuroglycopenic symptoms. Laboratory investigations reveal markedly elevated serum insulin, as well as increased C-peptide and proinsulin. The condition may be associated with other autoimmune diseases, monoclonal gammopathy, and/or recent exposure to certain medications.	Is a	True	Hyperinsulinism	Inferred relationship	Some
Alstrom syndrome	Is a	True	Hyperinsulinism	Inferred relationship	Some
A rare genetic disease characterized by the association of Fanconi syndrome and nephrocalcinosis in addition to neonatal hyperinsulinism and macrosomia. Patients display a phenotype of proximal tubulopathy characterized by generalized aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricemia, and additional features not normally seen in Fanconi syndrome (apart from nephrocalcinosis), namely renal impairment, hypercalciuria with relative hypocalcemia, and hypermagnesemia.	Is a	False	Hyperinsulinism	Inferred relationship	Some
Familial hyperinsulinemic hypoglycaemia	Is a	True	Hyperinsulinism	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
138438011	Hyperinsulinism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
825108013	Hyperinsulinism (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1217004011	Hyperinsulinaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1218493019	Hyperinsulinemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
954271000195113	iperinsulinismo	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
351551000172118	hyperinsulinisme	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
424301000274114	Hyperinsulinismus	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module