717182006: Hyperinsulinism due to deficiency of glucokinase (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\Hyperinsulinism due to deficiency of glucokinase (disorder)

\Digestive system finding (finding)\Finding of pancreas\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism due to deficiency of glucokinase (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Hyperinsulinism due to deficiency of glucokinase (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism due to deficiency of glucokinase (disorder)

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism due to deficiency of glucokinase (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Finding of pancreas\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism due to deficiency of glucokinase (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism due to deficiency of glucokinase (disorder)
\Finding of trunk structure\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\Hyperinsulinism due to deficiency of glucokinase (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Hyperinsulinism due to deficiency of glucokinase (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Hyperinsulinism due to deficiency of glucokinase (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hyperinsulinism due to deficiency of glucokinase (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Hyperinsulinism due to deficiency of glucokinase (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Hyperinsulinism due to deficiency of glucokinase (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Hyperinsulinism due to deficiency of glucokinase (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism due to deficiency of glucokinase (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Hyperinsulinism due to deficiency of glucokinase (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism due to deficiency of glucokinase (disorder)
\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\Hyperinsulinism due to deficiency of glucokinase (disorder)
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose regulation\Hyperinsulinism\Hyperinsulinism due to deficiency of glucokinase (disorder)
\Disease\Congenital disease (disorder)\Hyperinsulinism due to deficiency of glucokinase (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3308608019 Hyperinsulinism due to deficiency of glucokinase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3308609010 Hyperinsulinism due to deficiency of glucokinase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3308610017 Hyperinsulinism due to glucokinase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3308611018 A form of diazoxide-sensitive diffuse hyperinsulinism caused by a lowered threshold for insulin release. Characterized by excessive/uncontrolled insulin secretion and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Activating mutations of GCK (7p15.3-p15.1) that encodes glucokinase have been identified as the cause. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3308612013 A form of diazoxide-sensitive diffuse hyperinsulinism caused by a lowered threshold for insulin release. Characterised by excessive/uncontrolled insulin secretion and recurrent episodes of profound hypoglycaemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Activating mutations of GCK (7p15.3-p15.1) that encodes glucokinase have been identified as the cause. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

950821000172114 hyperinsulinisme par déficit en glucokinase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

976151000172112 hypoglycémie hyperinsulinémique par déficit en glucokinase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

922591000172113 hyperinsulinemische hypoglycemie als gevolg van glucokinasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

1005301000172118 hyperinsulinisme als gevolg van glucokinasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hyperinsulinism due to deficiency of glucokinase (disorder)	Due to	Deficiency of glucokinase	true	Inferred relationship	Some	2
Hyperinsulinism due to deficiency of glucokinase (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Hyperinsulinism due to deficiency of glucokinase (disorder)	Is a	Hyperinsulinism	true	Inferred relationship	Some
Hyperinsulinism due to deficiency of glucokinase (disorder)	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Hyperinsulinism due to deficiency of glucokinase (disorder)	Finding site	Endocrine pancreatic structure	false	Inferred relationship	Some
Hyperinsulinism due to deficiency of glucokinase (disorder)	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Hyperinsulinism due to deficiency of glucokinase (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Hyperinsulinism due to deficiency of glucokinase (disorder)	Finding site	Endocrine pancreatic structure	true	Inferred relationship	Some	1
Hyperinsulinism due to deficiency of glucokinase (disorder)	Is a	Congenital disease (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3308608019	Hyperinsulinism due to deficiency of glucokinase (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308609010	Hyperinsulinism due to deficiency of glucokinase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308610017	Hyperinsulinism due to glucokinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308611018	A form of diazoxide-sensitive diffuse hyperinsulinism caused by a lowered threshold for insulin release. Characterized by excessive/uncontrolled insulin secretion and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Activating mutations of GCK (7p15.3-p15.1) that encodes glucokinase have been identified as the cause.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3308612013	A form of diazoxide-sensitive diffuse hyperinsulinism caused by a lowered threshold for insulin release. Characterised by excessive/uncontrolled insulin secretion and recurrent episodes of profound hypoglycaemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Activating mutations of GCK (7p15.3-p15.1) that encodes glucokinase have been identified as the cause.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
950821000172114	hyperinsulinisme par déficit en glucokinase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
976151000172112	hypoglycémie hyperinsulinémique par déficit en glucokinase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
922591000172113	hyperinsulinemische hypoglycemie als gevolg van glucokinasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
1005301000172118	hyperinsulinisme als gevolg van glucokinasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)