717045004: hyperinsulinisme autosomique dominant par déficit en Kir6.2 (trouble)

• 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 Kir6.2 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 Kir6.2 deficiency (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Digestive system hereditary disorder\Autosomal dominant hyperinsulinism due to Kir6.2 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 Kir6.2 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 Kir6.2 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 Kir6.2 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 Kir6.2 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 Kir6.2 deficiency (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Autosomal dominant hyperinsulinism due to Kir6.2 deficiency (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Digestive system hereditary disorder\Autosomal dominant hyperinsulinism due to Kir6.2 deficiency (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant hyperinsulinism due to Kir6.2 deficiency (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Autosomal dominant hyperinsulinism due to Kir6.2 deficiency (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Digestive system hereditary disorder\Autosomal dominant hyperinsulinism due to Kir6.2 deficiency (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\Autosomal dominant hyperinsulinism due to Kir6.2 deficiency (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\Disorder of pancreas (disorder)\affection du pancréas endocrine\Hyperinsulinism\Autosomal dominant hyperinsulinism due to Kir6.2 deficiency (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Digestive system hereditary disorder\Autosomal dominant hyperinsulinism due to Kir6.2 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 Kir6.2 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 Kir6.2 deficiency (disorder)
• \Disease\trouble métabolique\Disorder of carbohydrate metabolism\trouble de la régulation glycémique\Hyperinsulinism\Autosomal dominant hyperinsulinism due to Kir6.2 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
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
750231000241114	hyperinsulinisme autosomique dominant par déficit en Kir6.2 (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
887141000172110	hyperinsulinisme autosomique dominant par déficit en Kir6.2	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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 Common French translation module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

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