783741006: Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Abdominal organ finding\Finding of pancreas\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Familial hyperinsulinemic hypoglycaemia\Persistent hyperinsulinemic hypoglycemia of infancy (disorder)\Diazoxide-resistant hyperinsulinism (disorder)\Diazoxide-resistant focal hyperinsulinism (disorder)\A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, 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.
• \Digestive system finding (finding)\Finding of pancreas\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Familial hyperinsulinemic hypoglycaemia\Persistent hyperinsulinemic hypoglycemia of infancy (disorder)\Diazoxide-resistant hyperinsulinism (disorder)\Diazoxide-resistant focal hyperinsulinism (disorder)\A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, 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.
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder\A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, 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.
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Familial hyperinsulinemic hypoglycaemia\Persistent hyperinsulinemic hypoglycemia of infancy (disorder)\Diazoxide-resistant hyperinsulinism (disorder)\Diazoxide-resistant focal hyperinsulinism (disorder)\A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, 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.
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, 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.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Familial hyperinsulinemic hypoglycaemia\Persistent hyperinsulinemic hypoglycemia of infancy (disorder)\Diazoxide-resistant hyperinsulinism (disorder)\Diazoxide-resistant focal hyperinsulinism (disorder)\A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, 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.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Finding of pancreas\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Familial hyperinsulinemic hypoglycaemia\Persistent hyperinsulinemic hypoglycemia of infancy (disorder)\Diazoxide-resistant hyperinsulinism (disorder)\Diazoxide-resistant focal hyperinsulinism (disorder)\A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, 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.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Familial hyperinsulinemic hypoglycaemia\Persistent hyperinsulinemic hypoglycemia of infancy (disorder)\Diazoxide-resistant hyperinsulinism (disorder)\Diazoxide-resistant focal hyperinsulinism (disorder)\A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, 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.
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Familial hyperinsulinemic hypoglycaemia\Persistent hyperinsulinemic hypoglycemia of infancy (disorder)\Diazoxide-resistant hyperinsulinism (disorder)\Diazoxide-resistant focal hyperinsulinism (disorder)\A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, 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.
• \Disease\Genetic disease\Familial hyperinsulinemic hypoglycaemia\Persistent hyperinsulinemic hypoglycemia of infancy (disorder)\Diazoxide-resistant hyperinsulinism (disorder)\Diazoxide-resistant focal hyperinsulinism (disorder)\A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, 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.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, 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.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, 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.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, 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.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, 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.
• \Disease\Fetal and/or neonatal disorder\Disorder of digestive system specific to fetus OR newborn\A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, 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.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, 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.
• \Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, 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.
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, 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.
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Familial hyperinsulinemic hypoglycaemia\Persistent hyperinsulinemic hypoglycemia of infancy (disorder)\Diazoxide-resistant hyperinsulinism (disorder)\Diazoxide-resistant focal hyperinsulinism (disorder)\A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, 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.
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder\A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, 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.
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Familial hyperinsulinemic hypoglycaemia\Persistent hyperinsulinemic hypoglycemia of infancy (disorder)\Diazoxide-resistant hyperinsulinism (disorder)\Diazoxide-resistant focal hyperinsulinism (disorder)\A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, 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.
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, 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.
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Familial hyperinsulinemic hypoglycaemia\Persistent hyperinsulinemic hypoglycemia of infancy (disorder)\Diazoxide-resistant hyperinsulinism (disorder)\Diazoxide-resistant focal hyperinsulinism (disorder)\A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, 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.
• \Disease\Familial disease\Familial hyperinsulinemic hypoglycaemia\Persistent hyperinsulinemic hypoglycemia of infancy (disorder)\Diazoxide-resistant hyperinsulinism (disorder)\Diazoxide-resistant focal hyperinsulinism (disorder)\A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, 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.
• \Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose regulation\Hyperinsulinism\Familial hyperinsulinemic hypoglycaemia\Persistent hyperinsulinemic hypoglycemia of infancy (disorder)\Diazoxide-resistant hyperinsulinism (disorder)\Diazoxide-resistant focal hyperinsulinism (disorder)\A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, 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.
• \Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose metabolism\Hypoglycaemic syndrome\Familial hyperinsulinemic hypoglycaemia\Persistent hyperinsulinemic hypoglycemia of infancy (disorder)\Diazoxide-resistant hyperinsulinism (disorder)\Diazoxide-resistant focal hyperinsulinism (disorder)\A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, 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.

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
5408640018	A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5408641019	A rare, congenital, isolated hyperinsulinism disorder characterised by diazoxide unresponsive recurrent episodes of hyperinsulinaemic hypoglycaemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycaemia may lead to variable clinical manifestation, 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3760116010	Hyperinsulinemic hypoglycaemia due to Kir6.2 deficiency, diazoxide-resistant focal form	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3760117018	Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3760118011	Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3760119015	Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6066821000241116	hyperinsulinisme focal résistant au diazoxide dû à un déficit en Kir6.2	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6066831000241119	hypoglycémie hyperinsulinémique par déficit en Kir6.2, 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
3445031001000119	Hyperinsulinismus, fokaler, Diazoxid-resistenter, durch Kir6.2-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

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