718106009: Hyperinsulinism and hyperammonemia syndrome (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 and hyperammonemia syndrome (disorder)

\Digestive system finding (finding)\Finding of pancreas\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism and hyperammonemia syndrome (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Hyperinsulinism and hyperammonemia syndrome (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism and hyperammonemia syndrome (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 and hyperammonemia syndrome (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 and hyperammonemia syndrome (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 and hyperammonemia syndrome (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 and hyperammonemia syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Hyperinsulinism and hyperammonemia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Hyperinsulinism and hyperammonemia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hyperinsulinism and hyperammonemia syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Hyperinsulinism and hyperammonemia syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Hyperinsulinism and hyperammonemia syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Hyperinsulinism and hyperammonemia syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism and hyperammonemia syndrome (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Hyperinsulinism and hyperammonemia syndrome (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 and hyperammonemia syndrome (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 and hyperammonemia syndrome (disorder)
\Disease\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of the urea cycle metabolism\Hyperammonemia\Hyperinsulinism and hyperammonemia syndrome (disorder)
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose regulation\Hyperinsulinism\Hyperinsulinism and hyperammonemia syndrome (disorder)
\Disease\Congenital disease (disorder)\Hyperinsulinism and hyperammonemia syndrome (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

3304054016 Hyperinsulinism and hyperammonemia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3304055015 Hyperinsulinism and hyperammonemia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3304056019 Hyperinsulinism and hyperammonaemia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3311195011 A frequent form of diazoxide-sensitive diffuse hyperinsulinism characterized by an excessive uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3311196012 A frequent form of diazoxide-sensitive diffuse hyperinsulinism characterised by an excessive uncontrolled insulin secretion (inappropriate for the level of glycaemia), asymptomatic hyperammonaemia and recurrent episodes of profound hypoglycaemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycaemia may also occur. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

11350981000172110 syndrome HI/HA (hyperinsulinisme/hyperammoniémie) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

11350991000172113 syndrome d'hyperinsulinisme et hyperammoniémie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

11351001000172114 syndrome d'hyperinsulinémie et hyperammoniémie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4778391000172118 HIHA-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4778401000172116 syndroom van hyperinsulinisme en hyperammoniëmie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hyperinsulinism and hyperammonemia syndrome (disorder)	Is a	Hyperammonemia	true	Inferred relationship	Some
Hyperinsulinism and hyperammonemia syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Hyperinsulinism and hyperammonemia syndrome (disorder)	Is a	Hyperinsulinism	true	Inferred relationship	Some
Hyperinsulinism and hyperammonemia syndrome (disorder)	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Hyperinsulinism and hyperammonemia syndrome (disorder)	Finding site	Endocrine pancreatic structure	false	Inferred relationship	Some
Hyperinsulinism and hyperammonemia syndrome (disorder)	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Hyperinsulinism and hyperammonemia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Hyperinsulinism and hyperammonemia syndrome (disorder)	Finding site	Endocrine pancreatic structure	true	Inferred relationship	Some	1
Hyperinsulinism and hyperammonemia syndrome (disorder)	Is a	Congenital disease (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3304054016	Hyperinsulinism and hyperammonemia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304055015	Hyperinsulinism and hyperammonemia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304056019	Hyperinsulinism and hyperammonaemia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3311195011	A frequent form of diazoxide-sensitive diffuse hyperinsulinism characterized by an excessive uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3311196012	A frequent form of diazoxide-sensitive diffuse hyperinsulinism characterised by an excessive uncontrolled insulin secretion (inappropriate for the level of glycaemia), asymptomatic hyperammonaemia and recurrent episodes of profound hypoglycaemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycaemia may also occur.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
11350981000172110	syndrome HI/HA (hyperinsulinisme/hyperammoniémie)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
11350991000172113	syndrome d'hyperinsulinisme et hyperammoniémie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
11351001000172114	syndrome d'hyperinsulinémie et hyperammoniémie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4778391000172118	HIHA-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4778401000172116	syndroom van hyperinsulinisme en hyperammoniëmie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)