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

\Digestive system finding (finding)\Finding of pancreas\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (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\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (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\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (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\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (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\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (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\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose regulation\Hyperinsulinism\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
\Disease\Congenital disease (disorder)\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)

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

3308268011 Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3308269015 Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3308271015 Autosomal dominant hyperinsulinism due to SUR1 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

10054221000172119 hyperinsulinisme autosomique dominant dû à un déficit en récepteur 1 des sulfonylurées fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4494901000172116 autosomaal dominant hyperinsulinisme door deficiëntie van sulfonylureumreceptor 1 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4494911000172118 autosomaal dominant hyperinsulinisme door SUR1-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)	Is a	Hyperinsulinism	true	Inferred relationship	Some
Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)	Finding site	Endocrine pancreatic structure	false	Inferred relationship	Some
Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)	Finding site	Endocrine pancreatic structure	true	Inferred relationship	Some	1
Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (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
3308268011	Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308269015	Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308271015	Autosomal dominant hyperinsulinism due to SUR1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
10054221000172119	hyperinsulinisme autosomique dominant dû à un déficit en récepteur 1 des sulfonylurées	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4494901000172116	autosomaal dominant hyperinsulinisme door deficiëntie van sulfonylureumreceptor 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4494911000172118	autosomaal dominant hyperinsulinisme door SUR1-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)