783740007: Diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Abdominal organ finding\Finding of pancreas\Disease of pancreas\Disorder of endocrine pancreas (disorder)\Hyperinsulinism\Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
• \Digestive system finding (finding)\Finding of pancreas\Disease of pancreas\Disorder of endocrine pancreas (disorder)\Hyperinsulinism\Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Digestive system hereditary disorder\Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Disease of pancreas\Disorder of endocrine pancreas (disorder)\Hyperinsulinism\Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disease of pancreas\Disorder of endocrine pancreas (disorder)\Hyperinsulinism\Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Finding of pancreas\Disease of pancreas\Disorder of endocrine pancreas (disorder)\Hyperinsulinism\Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disease of pancreas\Disorder of endocrine pancreas (disorder)\Hyperinsulinism\Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disease of pancreas\Disorder of endocrine pancreas (disorder)\Hyperinsulinism\Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
• \Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Hereditary disorder of endocrine system (disorder)\Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disease of pancreas\Disorder of endocrine pancreas (disorder)\Hyperinsulinism\Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Digestive system hereditary disorder\Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Disease of pancreas\Disorder of endocrine pancreas (disorder)\Hyperinsulinism\Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disease of pancreas\Disorder of endocrine pancreas (disorder)\Hyperinsulinism\Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
• \Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose regulation\Hyperinsulinism\Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency

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
3760109014	Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3760110016	Diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3760111017	Diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3760112012	Hyperinsulinemic hypoglycaemia due to SUR1 deficiency, diazoxide-resistant focal form	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3760113019	Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3760114013	A rare congenital isolated hyperinsulinism disorder with characteristics of diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to SUR1 deficiency. Hypoglycemia may lead to variable clinical manifestations, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome. 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
3760115014	A rare congenital isolated hyperinsulinism disorder with characteristics of diazoxide unresponsive recurrent episodes of hyperinsulinaemic hypoglycaemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to SUR1 deficiency. Hypoglycaemia may lead to variable clinical manifestations, ranging from asymptomatic hypoglycaemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycaemic coma or status epilepticus, further leading to poor neurological outcome. 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
3760109014	Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3760110016	Diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3760111017	Diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3760112012	Hyperinsulinemic hypoglycaemia due to SUR1 deficiency, diazoxide-resistant focal form	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3760113019	Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3760114013	A rare congenital isolated hyperinsulinism disorder with characteristics of diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to SUR1 deficiency. Hypoglycemia may lead to variable clinical manifestations, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome. 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
3760115014	A rare congenital isolated hyperinsulinism disorder with characteristics of diazoxide unresponsive recurrent episodes of hyperinsulinaemic hypoglycaemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to SUR1 deficiency. Hypoglycaemia may lead to variable clinical manifestations, ranging from asymptomatic hypoglycaemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycaemic coma or status epilepticus, further leading to poor neurological outcome. 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
3434971001000117	Hyperinsulinismus, fokaler, Diazoxid-resistenter, durch SUR1-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6075981000241114	hyperinsulinisme focal résistant au diazoxide dû à un déficit en SUR1 (récepteur des sulfonylurées-1)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6075991000241111	hypoglycémie hyperinsulinémique par déficit en SUR1 (récepteur des sulfonylurées-1), forme focale résistante au diazoxide	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6075981000241114	hyperinsulinisme focal résistant au diazoxide dû à un déficit en SUR1 (récepteur des sulfonylurées-1)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6075991000241111	hypoglycémie hyperinsulinémique par déficit en SUR1 (récepteur des sulfonylurées-1), forme focale résistante au diazoxide	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3434971001000117	Hyperinsulinismus, fokaler, Diazoxid-resistenter, durch SUR1-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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