717045004: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Abdominal organ finding\Finding of pancreas\Disease of pancreas\Disorder of endocrine pancreas (disorder)\Hyperinsulinism\Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
• \Digestive system finding (finding)\Finding of pancreas\Disease of pancreas\Disorder of endocrine pancreas (disorder)\Hyperinsulinism\Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Digestive system hereditary disorder\Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Disease of pancreas\Disorder of endocrine pancreas (disorder)\Hyperinsulinism\Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disease of pancreas\Disorder of endocrine pancreas (disorder)\Hyperinsulinism\Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Finding of pancreas\Disease of pancreas\Disorder of endocrine pancreas (disorder)\Hyperinsulinism\Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disease of pancreas\Disorder of endocrine pancreas (disorder)\Hyperinsulinism\Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disease of pancreas\Disorder of endocrine pancreas (disorder)\Hyperinsulinism\Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Hereditary disorder of endocrine system (disorder)\Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disease of pancreas\Disorder of endocrine pancreas (disorder)\Hyperinsulinism\Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Digestive system hereditary disorder\Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Disease of pancreas\Disorder of endocrine pancreas (disorder)\Hyperinsulinism\Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disease of pancreas\Disorder of endocrine pancreas (disorder)\Hyperinsulinism\Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
• \Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose regulation\Hyperinsulinism\Autosomal dominant hyperinsulinism due to Kir6.2 deficiency

Status: current, Not 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
3308264013	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3308265014	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5401465017	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).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401466016	A form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterised by hypoglycaemic 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).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3308264013	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3308265014	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3308266010	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, (but some are diazoxide resistant). Usually has a milder phenotype when compared to that resulting from recessive K+ channel mutations.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3308267018	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, (but some are diazoxide resistant). Usually has a milder phenotype when compared to that resulting from recessive K+ channel mutations.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401465017	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).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401466016	A form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterised by hypoglycaemic 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).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3407911001000113	Hyperinsulinismus durch Kir6.2-Mangel, autosomal-dominanter	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
887141000172110	hyperinsulinisme autosomique dominant par déficit en Kir6.2	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
917021000172112	hypoglycémie hyperinsulinémique autosomique dominant par déficit en Kir6.2	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
887141000172110	hyperinsulinisme autosomique dominant par déficit en Kir6.2	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
917021000172112	hypoglycémie hyperinsulinémique autosomique dominant par déficit en Kir6.2	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3407911001000113	Hyperinsulinismus durch Kir6.2-Mangel, autosomal-dominanter	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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