717182006: Hyperinsulinism due to deficiency of glucokinase (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Viscus structure finding\Abdominal organ finding\Finding of pancreas\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism due to glucokinase deficiency
• \Digestive system finding\Finding of pancreas\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism due to glucokinase deficiency
• \Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Hyperinsulinism due to glucokinase deficiency
• \Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism due to glucokinase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism due to glucokinase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Finding of pancreas\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism due to glucokinase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism due to glucokinase deficiency
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism due to glucokinase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Hyperinsulinism due to glucokinase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Hyperinsulinism due to glucokinase deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hyperinsulinism due to glucokinase deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Hyperinsulinism due to glucokinase deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Hyperinsulinism due to glucokinase deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Hyperinsulinism due to glucokinase deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism due to glucokinase deficiency
• \Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Hyperinsulinism due to glucokinase deficiency
• \Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism due to glucokinase deficiency
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism due to glucokinase deficiency
• \Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose regulation\Hyperinsulinism\Hyperinsulinism due to glucokinase deficiency
• \Disease\Congenital disease\Hyperinsulinism due to glucokinase deficiency

Status: current, Defined. 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	Case insensitive	SNOMED CT core
3308609010	Hyperinsulinism due to deficiency of glucokinase	en	Synonym	Active	Case insensitive	SNOMED CT core
3308610017	Hyperinsulinism due to glucokinase deficiency	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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