717048002: Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Viscus structure finding\Abdominal organ finding\Finding of pancreas\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency
• \Digestive system finding\Finding of pancreas\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency
• \Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency
• \Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\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
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency
• \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
• \Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency
• \Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency
• \Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose regulation\Hyperinsulinism\Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency
• \Disease\Congenital disease\Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3308279018	Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3308280015	Hyperinsulinism due to HNF4A deficiency	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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