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

• SNOMED CT Concept\constatation clinique\...
• \Viscus structure finding (finding)\constatation à propos d'un organe abdominal\constatation à propos du pancréas\Disorder of pancreas (disorder)\affection du pancréas endocrine\Hyperinsulinism\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
• \Digestive system finding (finding)\constatation à propos du pancréas\Disorder of pancreas (disorder)\affection du pancréas endocrine\Hyperinsulinism\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Digestive system hereditary disorder\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Disorder of pancreas (disorder)\affection du pancréas endocrine\Hyperinsulinism\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas (disorder)\affection du pancréas endocrine\Hyperinsulinism\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\constatation à propos du pancréas\Disorder of pancreas (disorder)\affection du pancréas endocrine\Hyperinsulinism\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas (disorder)\affection du pancréas endocrine\Hyperinsulinism\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas (disorder)\affection du pancréas endocrine\Hyperinsulinism\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Digestive system hereditary disorder\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Digestive system hereditary disorder\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\Disorder of pancreas (disorder)\affection du pancréas endocrine\Hyperinsulinism\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Digestive system hereditary disorder\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Disorder of pancreas (disorder)\affection du pancréas endocrine\Hyperinsulinism\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas (disorder)\affection du pancréas endocrine\Hyperinsulinism\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
• \Disease\trouble métabolique\Disorder of carbohydrate metabolism\trouble de la régulation glycémique\Hyperinsulinism\Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
• \Disease\Congenital disease\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

Expanded Value Set

This concept is not in any reference sets

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