721234004: Hyperinsulinism due to hepatocyte nuclear factor 1-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 hepatocyte nuclear factor 1-alpha deficiency (disorder)
• \Digestive system finding (finding)\Finding of pancreas\Disease of pancreas\Disorder of endocrine pancreas (disorder)\Hyperinsulinism\Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder)
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Digestive system hereditary disorder\Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder)
• \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 hepatocyte nuclear factor 1-alpha deficiency (disorder)
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder)
• \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 hepatocyte nuclear factor 1-alpha deficiency (disorder)
• \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 hepatocyte nuclear factor 1-alpha deficiency (disorder)
• \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 hepatocyte nuclear factor 1-alpha deficiency (disorder)
• \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 hepatocyte nuclear factor 1-alpha deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Hyperinsulinism due to hepatocyte nuclear factor 1-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 1-alpha deficiency (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Hereditary disorder of endocrine system (disorder)\Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disease of pancreas\Disorder of endocrine pancreas (disorder)\Hyperinsulinism\Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder)
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Digestive system hereditary disorder\Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder)
• \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 hepatocyte nuclear factor 1-alpha deficiency (disorder)
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder)
• \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 hepatocyte nuclear factor 1-alpha deficiency (disorder)
• \Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose regulation\Hyperinsulinism\Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder)

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
3324723015	Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324724014	Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324725010	Hyperinsulinism due to HNF1A deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5402664011	Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving into maturity-onset diabetes of the young subtype 1 later in life.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402665012	Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterised by transient or persistent hyperinsulinaemic hypoglycaemia (HH) in infancy that is responsive to diazoxide, evolving into maturity-onset diabetes of the young subtype 1 later in life.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3324723015	Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3324723015	Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324724014	Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3324724014	Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324725010	Hyperinsulinism due to HNF1A deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3324726011	A form of diazoxide-sensitive diffuse hyperinsulinism, characterized by transient or persistent hyperinsulinemic hypoglycemia in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 later in life.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3324727019	A form of diazoxide-sensitive diffuse hyperinsulinism, characterised by transient or persistent hyperinsulinaemic hypoglycaemia in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 later in life.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5282441017	A form of diazoxide-sensitive diffuse hyperinsulinism, characterized by transient or persistent hyperinsulinemic hypoglycemia in infancy that is responsive to diazoxide, evolving into maturity-onset diabetes of the young subtype 1 later in life.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5282442012	A form of diazoxide-sensitive diffuse hyperinsulinism, characterised by transient or persistent hyperinsulinaemic hypoglycaemia in infancy that is responsive to diazoxide, evolving into maturity-onset diabetes of the young subtype 1 later in life.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402664011	Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving into maturity-onset diabetes of the young subtype 1 later in life.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402665012	Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterised by transient or persistent hyperinsulinaemic hypoglycaemia (HH) in infancy that is responsive to diazoxide, evolving into maturity-onset diabetes of the young subtype 1 later in life.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3411551001000112	Hyperinsulinismus durch HNF1A-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6285911000241115	hyperinsulinisme dû à un déficit en HNF1A (hepatocyte nuclear factor 1-alpha)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6285921000241110	hyperinsulinémie due à un déficit en HNF1A (hepatocyte nuclear factor 1-alpha)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6285911000241115	hyperinsulinisme dû à un déficit en HNF1A (hepatocyte nuclear factor 1-alpha)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6285921000241110	hyperinsulinémie due à un déficit en HNF1A (hepatocyte nuclear factor 1-alpha)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3411551001000112	Hyperinsulinismus durch HNF1A-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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