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 sulfonylurea receptor 1 deficiency

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

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 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 sulfonylurea receptor 1 deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneal compartment\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency
\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
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 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 sulfonylurea receptor 1 deficiency
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose regulation\Hyperinsulinism\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency
\Disease\Congenital disease\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2016. Module: SNOMED CT core module

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 SNOMED CT core module

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

3308271015 Autosomal dominant hyperinsulinism due to SUR1 deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency	Is a	Hyperinsulinism	true	Inferred relationship	Existential restriction modifier
Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Existential restriction modifier
Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency	Finding site	Endocrine pancreatic structure	false	Inferred relationship	Existential restriction modifier
Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency	Is a	Digestive system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency	Finding site	Endocrine pancreatic structure	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency	Is a	Congenital disease	true	Inferred relationship	Existential restriction modifier

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	SNOMED CT core module
3308269015	Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3308271015	Autosomal dominant hyperinsulinism due to SUR1 deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module