717046003: Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Viscus structure finding\Abdominal organ finding\Finding of pancreas\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Autosomal dominant hyperinsulinism due to SUR1 deficiency
• \Digestive system finding\Finding of pancreas\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Autosomal dominant hyperinsulinism due to SUR1 deficiency
• \Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Autosomal dominant hyperinsulinism due to SUR1 deficiency
• \Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Autosomal dominant hyperinsulinism due to SUR1 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\Autosomal dominant hyperinsulinism due to SUR1 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\Autosomal dominant hyperinsulinism due to SUR1 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\Autosomal dominant hyperinsulinism due to SUR1 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\Autosomal dominant hyperinsulinism due to SUR1 deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Autosomal dominant hyperinsulinism due to SUR1 deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Autosomal dominant hyperinsulinism due to SUR1 deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant hyperinsulinism due to SUR1 deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Autosomal dominant hyperinsulinism due to SUR1 deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Autosomal dominant hyperinsulinism due to SUR1 deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Autosomal dominant hyperinsulinism due to SUR1 deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Autosomal dominant hyperinsulinism due to SUR1 deficiency
• \Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Autosomal dominant hyperinsulinism due to SUR1 deficiency
• \Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Autosomal dominant hyperinsulinism due to SUR1 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\Autosomal dominant hyperinsulinism due to SUR1 deficiency
• \Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose regulation\Hyperinsulinism\Autosomal dominant hyperinsulinism due to SUR1 deficiency
• \Disease\Congenital disease\Autosomal dominant hyperinsulinism due to SUR1 deficiency

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3308268011	Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3308269015	Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3308271015	Autosomal dominant hyperinsulinism due to SUR1 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3308272010	A form of diazoxide-sensitive diffuse hyperinsulinism characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations.	en	Definition	Active	Case sensitive	SNOMED CT core
3308273017	A form of diazoxide-sensitive diffuse hyperinsulinism characterised by hypoglycaemic episodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations.	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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