718106009: Hyperinsulinism and hyperammonemia syndrome (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\Hyperinsulinism and hyperammonemia syndrome (disorder)
• \Digestive system finding (finding)\constatation à propos du pancréas\Disorder of pancreas (disorder)\affection du pancréas endocrine\Hyperinsulinism\Hyperinsulinism and hyperammonemia syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Digestive system hereditary disorder\Hyperinsulinism and hyperammonemia syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Disorder of pancreas (disorder)\affection du pancréas endocrine\Hyperinsulinism\Hyperinsulinism and hyperammonemia syndrome (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\Hyperinsulinism and hyperammonemia syndrome (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\Hyperinsulinism and hyperammonemia syndrome (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\Hyperinsulinism and hyperammonemia syndrome (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\Hyperinsulinism and hyperammonemia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Hyperinsulinism and hyperammonemia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Digestive system hereditary disorder\Hyperinsulinism and hyperammonemia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hyperinsulinism and hyperammonemia syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Hyperinsulinism and hyperammonemia syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Digestive system hereditary disorder\Hyperinsulinism and hyperammonemia syndrome (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\Hyperinsulinism and hyperammonemia syndrome (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\Disorder of pancreas (disorder)\affection du pancréas endocrine\Hyperinsulinism\Hyperinsulinism and hyperammonemia syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Digestive system hereditary disorder\Hyperinsulinism and hyperammonemia syndrome (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\Hyperinsulinism and hyperammonemia syndrome (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\Hyperinsulinism and hyperammonemia syndrome (disorder)
• \Disease\trouble métabolique\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of the urea cycle metabolism\Hyperammonemia\Hyperinsulinism and hyperammonemia syndrome (disorder)
• \Disease\trouble métabolique\Disorder of carbohydrate metabolism\trouble de la régulation glycémique\Hyperinsulinism\Hyperinsulinism and hyperammonemia syndrome (disorder)
• \Disease\Congenital disease\Hyperinsulinism and hyperammonemia syndrome (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
3304054016	Hyperinsulinism and hyperammonemia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304055015	Hyperinsulinism and hyperammonemia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304056019	Hyperinsulinism and hyperammonaemia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3311195011	A frequent form of diazoxide-sensitive diffuse hyperinsulinism characterized by an excessive uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3311196012	A frequent form of diazoxide-sensitive diffuse hyperinsulinism characterised by an excessive uncontrolled insulin secretion (inappropriate for the level of glycaemia), asymptomatic hyperammonaemia and recurrent episodes of profound hypoglycaemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycaemia may also occur.	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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