717048002: Hyperinsulinism due to hepatocyte nuclear factor 4-alpha 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\Hyperinsulinism due to HNF4A deficiency
• \Digestive system finding (finding)\Finding of pancreas\Disease of pancreas\Disorder of endocrine pancreas (disorder)\Hyperinsulinism\Hyperinsulinism due to HNF4A deficiency
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Digestive system hereditary disorder\Hyperinsulinism due to HNF4A deficiency
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Disease of pancreas\Disorder of endocrine pancreas (disorder)\Hyperinsulinism\Hyperinsulinism due to HNF4A deficiency
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Hyperinsulinism due to HNF4A 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\Hyperinsulinism due to HNF4A 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\Hyperinsulinism due to HNF4A 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\Hyperinsulinism due to HNF4A 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\Hyperinsulinism due to HNF4A deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Hyperinsulinism due to HNF4A deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Hyperinsulinism due to HNF4A deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hyperinsulinism due to HNF4A deficiency
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Hyperinsulinism due to HNF4A deficiency
• \Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Hyperinsulinism due to HNF4A deficiency
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Hyperinsulinism due to HNF4A deficiency
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Hyperinsulinism due to HNF4A deficiency
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Hereditary disorder of endocrine system (disorder)\Hyperinsulinism due to HNF4A deficiency
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disease of pancreas\Disorder of endocrine pancreas (disorder)\Hyperinsulinism\Hyperinsulinism due to HNF4A deficiency
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Digestive system hereditary disorder\Hyperinsulinism due to HNF4A deficiency
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Disease of pancreas\Disorder of endocrine pancreas (disorder)\Hyperinsulinism\Hyperinsulinism due to HNF4A deficiency
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Hyperinsulinism due to HNF4A 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\Hyperinsulinism due to HNF4A deficiency
• \Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose regulation\Hyperinsulinism\Hyperinsulinism due to HNF4A deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3308278014	Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308279018	Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308280015	Hyperinsulinism due to HNF4A deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5401471011	A form of diazoxide-sensitive diffuse congenital hyperinsulinism due to HNF4A deficiency and, characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401472016	A form of diazoxide-sensitive diffuse congenital hyperinsulinism due to HNF4A deficiency and, characterised by macrosomia, transient or persistent hyperinsulinaemic hypoglycaemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3308278014	Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3308278014	Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308279018	Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3308279018	Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308280015	Hyperinsulinism due to HNF4A deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3308281016	A form of diazoxide-sensitive diffuse hyperinsulinism characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia, responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1. The disease frequently presents as neonatal hypoglycemia. All patients are responsive to medical management with diazoxide. Family history of diabetes is usually, but not always present. Caused by mutations in HNF4A gene (20q13.12). The transmission is autosomal dominant with variable penetrance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3308282011	A form of diazoxide-sensitive diffuse hyperinsulinism characterised by macrosomia, transient or persistent hyperinsulinaemic hypoglycaemia, responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1. The disease frequently presents as neonatal hypoglycaemia. All patients are responsive to medical management with diazoxide. Family history of diabetes is usually, but not always present. Caused by mutations in HNF4A gene (20q13.12). The transmission is autosomal dominant with variable penetrance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401471011	A form of diazoxide-sensitive diffuse congenital hyperinsulinism due to HNF4A deficiency and, characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401472016	A form of diazoxide-sensitive diffuse congenital hyperinsulinism due to HNF4A deficiency and, characterised by macrosomia, transient or persistent hyperinsulinaemic hypoglycaemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3410951001000112	Hyperinsulinismus durch HNF4A-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6285701000241119	hyperinsulinisme dû à un déficit en HNF4A (hepatocyte nuclear factor 4-alpha)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6285711000241117	hyperinsulinémie due à un déficit en HNF4A (hepatocyte nuclear factor 4-alpha)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6285701000241119	hyperinsulinisme dû à un déficit en HNF4A (hepatocyte nuclear factor 4-alpha)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6285711000241117	hyperinsulinémie due à un déficit en HNF4A (hepatocyte nuclear factor 4-alpha)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3410951001000112	Hyperinsulinismus durch HNF4A-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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