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

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

Expanded Value Set

Reference Sets

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

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