721834007: hyperinsulinisme door deficiëntie van 'uncoupling protein'-2 (aandoening)

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 uncoupling protein 2 deficiency (disorder)

\Digestive system finding (finding)\Finding of pancreas\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism due to uncoupling protein 2 deficiency (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Hyperinsulinism due to uncoupling protein 2 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 uncoupling protein 2 deficiency (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Hyperinsulinism due to uncoupling protein 2 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 uncoupling protein 2 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 uncoupling protein 2 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 uncoupling protein 2 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 uncoupling protein 2 deficiency (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Hyperinsulinism due to uncoupling protein 2 deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Hyperinsulinism due to uncoupling protein 2 deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hyperinsulinism due to uncoupling protein 2 deficiency (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Hyperinsulinism due to uncoupling protein 2 deficiency (disorder)
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Hyperinsulinism due to uncoupling protein 2 deficiency (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Hyperinsulinism due to uncoupling protein 2 deficiency (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Hyperinsulinism due to uncoupling protein 2 deficiency (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Hyperinsulinism due to uncoupling protein 2 deficiency (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Hyperinsulinism due to uncoupling protein 2 deficiency (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Hyperinsulinism due to uncoupling protein 2 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 uncoupling protein 2 deficiency (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Hyperinsulinism due to uncoupling protein 2 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 uncoupling protein 2 deficiency (disorder)
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose regulation\Hyperinsulinism\Hyperinsulinism due to uncoupling protein 2 deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hyperinsulinism due to uncoupling protein 2 deficiency (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Hyperinsulinism due to uncoupling protein 2 deficiency (disorder)	Is a	Hyperinsulinism	true	Inferred relationship	Some
Hyperinsulinism due to uncoupling protein 2 deficiency (disorder)	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Hyperinsulinism due to uncoupling protein 2 deficiency (disorder)	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Hyperinsulinism due to uncoupling protein 2 deficiency (disorder)	Finding site	Endocrine pancreatic structure	false	Inferred relationship	Some
Hyperinsulinism due to uncoupling protein 2 deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Hyperinsulinism due to uncoupling protein 2 deficiency (disorder)	Finding site	Endocrine pancreatic structure	true	Inferred relationship	Some	1
Hyperinsulinism due to uncoupling protein 2 deficiency (disorder)	Is a	Congenital disease (disorder)	true	Inferred relationship	Some
Hyperinsulinism due to uncoupling protein 2 deficiency (disorder)	Is a	Disorder of digestive system specific to fetus OR newborn	true	Inferred relationship	Some
Hyperinsulinism due to uncoupling protein 2 deficiency (disorder)	Is a	Hereditary metabolic disease	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3326183011	Hyperinsulinism due to uncoupling protein 2 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3326184017	Hyperinsulinism due to uncoupling protein 2 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3326185016	Hyperinsulinism due to UCP2 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3326186015	Hyperinsulinism due to UCP2 (uncoupling protein 2) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6034691000146119	hyperinsulinisme door UCP-2-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6034701000146119	hyperinsulinisme door ontkoppelingseiwit-2-deficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6034721000146110	hyperinsulinisme door 'uncoupling protein'-2-deficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6104821000146118	hyperinsulinisme door deficiëntie van ontkoppelingseiwit 2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8721131000146116	hyperinsulinisme door deficiëntie van 'uncoupling protein'-2 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8721141000146112	hyperinsulinisme door deficiëntie van 'uncoupling protein'-2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3326187012	A form of diazoxide-sensitive diffuse hyperinsulinism characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3326188019	A form of diazoxide-sensitive diffuse hyperinsulinism characterised by hypoglycaemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core