721235003: Hyperinsulinism due to insulin receptor 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\Familial hyperinsulinemic hypoglycaemia\Hyperinsulinism due to insulin receptor deficiency
• \Digestive system finding (finding)\Finding of pancreas\Disease of pancreas\Disorder of endocrine pancreas (disorder)\Hyperinsulinism\Familial hyperinsulinemic hypoglycaemia\Hyperinsulinism due to insulin receptor deficiency
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Digestive system hereditary disorder\Hyperinsulinism due to insulin receptor deficiency
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Disease of pancreas\Disorder of endocrine pancreas (disorder)\Hyperinsulinism\Familial hyperinsulinemic hypoglycaemia\Hyperinsulinism due to insulin receptor 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\Familial hyperinsulinemic hypoglycaemia\Hyperinsulinism due to insulin receptor 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\Familial hyperinsulinemic hypoglycaemia\Hyperinsulinism due to insulin receptor 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\Familial hyperinsulinemic hypoglycaemia\Hyperinsulinism due to insulin receptor 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\Familial hyperinsulinemic hypoglycaemia\Hyperinsulinism due to insulin receptor deficiency
• \Disease\Genetic disease\Familial hyperinsulinemic hypoglycaemia\Hyperinsulinism due to insulin receptor deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Hyperinsulinism due to insulin receptor deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Hyperinsulinism due to insulin receptor deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hyperinsulinism due to insulin receptor deficiency
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Hyperinsulinism due to insulin receptor deficiency
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Hyperinsulinism due to insulin receptor deficiency
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Hereditary disorder of endocrine system (disorder)\Hyperinsulinism due to insulin receptor deficiency
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disease of pancreas\Disorder of endocrine pancreas (disorder)\Hyperinsulinism\Familial hyperinsulinemic hypoglycaemia\Hyperinsulinism due to insulin receptor deficiency
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Digestive system hereditary disorder\Hyperinsulinism due to insulin receptor deficiency
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Disease of pancreas\Disorder of endocrine pancreas (disorder)\Hyperinsulinism\Familial hyperinsulinemic hypoglycaemia\Hyperinsulinism due to insulin receptor 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\Familial hyperinsulinemic hypoglycaemia\Hyperinsulinism due to insulin receptor deficiency
• \Disease\Familial disease\Familial hyperinsulinemic hypoglycaemia\Hyperinsulinism due to insulin receptor deficiency
• \Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose regulation\Hyperinsulinism\Familial hyperinsulinemic hypoglycaemia\Hyperinsulinism due to insulin receptor deficiency
• \Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose metabolism\Hypoglycaemic syndrome\Familial hyperinsulinemic hypoglycaemia\Hyperinsulinism due to insulin receptor deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3324728012	Hyperinsulinism due to insulin receptor deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324729016	Hyperinsulinism due to insulin receptor deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324732018	Hyperinsulinism due to INSR (insulin receptor) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5402666013	A rare autosomal dominant form of familial hyperinsulinism characterized clinically by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402667016	A rare autosomal dominant form of familial hyperinsulinism characterised clinically by postprandial hypoglycaemia, fasting hyperinsulinaemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3324728012	Hyperinsulinism due to insulin receptor deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3324728012	Hyperinsulinism due to insulin receptor deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324729016	Hyperinsulinism due to insulin receptor deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3324729016	Hyperinsulinism due to insulin receptor deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324732018	Hyperinsulinism due to INSR (insulin receptor) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3324730014	A very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, an elevated serum insulin-to-C peptide ratio and a variable age of onset.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3324731013	A very rare autosomal dominant form of familial hyperinsulinism characterised clinically in the single reported family by postprandial hypoglycaemia, fasting hyperinsulinaemia, an elevated serum insulin-to-C peptide ratio and a variable age of onset.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402666013	A rare autosomal dominant form of familial hyperinsulinism characterized clinically by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402667016	A rare autosomal dominant form of familial hyperinsulinism characterised clinically by postprandial hypoglycaemia, fasting hyperinsulinaemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3422201001000110	Hyperinsulinismus durch INSR-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6315791000241118	hyperinsulinémie due à un déficit en récepteur de l'insuline	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6315801000241119	hyperinsulinisme dû à un déficit en récepteur insulinique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6315791000241118	hyperinsulinémie due à un déficit en récepteur de l'insuline	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6315801000241119	hyperinsulinisme dû à un déficit en récepteur insulinique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3422201001000110	Hyperinsulinismus durch INSR-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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