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\Disease of pancreas\Disorder of endocrine pancreas (disorder)\Hyperinsulinism\Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
• \Digestive system finding (finding)\Finding of pancreas\Disease of pancreas\Disorder of endocrine pancreas (disorder)\Hyperinsulinism\Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Digestive system hereditary disorder\Diazoxide-resistant focal hyperinsulinism due to Kir6.2 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 Kir6.2 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 Kir6.2 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 Kir6.2 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 Kir6.2 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 Kir6.2 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 Kir6.2 deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
• \Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Hereditary disorder of endocrine system (disorder)\Diazoxide-resistant focal hyperinsulinism due to Kir6.2 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 Kir6.2 deficiency
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Digestive system hereditary disorder\Diazoxide-resistant focal hyperinsulinism due to Kir6.2 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 Kir6.2 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 Kir6.2 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 Kir6.2 deficiency
• \Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose regulation\Hyperinsulinism\Diazoxide-resistant focal hyperinsulinism due to Kir6.2 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
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
3760120014	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 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. Caused by mutation in the gene encoding the Kir6.2 subunit of the inwardly rectifying potassium channel (KCNJ11).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3760121013	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 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. Caused by mutation in the gene encoding the Kir6.2 subunit of the inwardly rectifying potassium channel (KCNJ11).	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
3760120014	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 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. Caused by mutation in the gene encoding the Kir6.2 subunit of the inwardly rectifying potassium channel (KCNJ11).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3760121013	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 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. Caused by mutation in the gene encoding the Kir6.2 subunit of the inwardly rectifying potassium channel (KCNJ11).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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
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
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

Expanded Value Set

This concept is not in any reference sets

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