783767001: Autosomal recessive 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 recessive 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 recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Digestive system hereditary disorder\Autosomal recessive 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 recessive 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 recessive 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 recessive 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 recessive 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 recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Digestive system hereditary disorder\Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive 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 recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Digestive system hereditary disorder\Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\Autosomal recessive 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 recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Digestive system hereditary disorder\Autosomal recessive 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 recessive 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 recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
• \Disease\trouble métabolique\Disorder of carbohydrate metabolism\trouble de la régulation glycémique\Hyperinsulinism\Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
• \Disease\Congenital disease\Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3760281019	Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3760282014	Autosomal recessive hyperinsulinism due to SUR1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3760283016	Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3760284010	Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3760285011	Autosomal recessive hyperinsulinemic hypoglycaemia due to SUR1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3760286012	A rare congenital isolated hyperinsulinism disorder with characteristics of neonatal presentation of severe refractory hypoglycaemia in the first two days of life with limited response to medical management sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to SUR1 deficiency. Persistent hypoglycaemia, hyperglycaemia and type 1 diabetes mellitus may develop later in life. Life-threatening hypoglycaemic coma or status epilepticus have also been associated. There is evidence the disease is caused by homozygous, compound heterozygous, or heterozygous mutation in the ABCC8 gene on chromosome 11p15.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3760287015	A rare congenital isolated hyperinsulinism disorder with characteristics of neonatal presentation of severe refractory hypoglycemia in the first two days of life with limited response to medical management sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to SUR1 deficiency. Persistent hypoglycemia, hyperglycemia and type 1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated. There is evidence the disease is caused by homozygous, compound heterozygous, or heterozygous mutation in the ABCC8 gene on chromosome 11p15.	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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