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 retroperitoneal compartment\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 retroperitoneal compartment\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 retroperitoneal compartment\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 retroperitoneal compartment\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, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2016. Module: SNOMED CT core module

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 SNOMED CT core module

3308279018 Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

3308280015 Hyperinsulinism due to HNF4A deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency	Is a	Hyperinsulinism	true	Inferred relationship	Existential restriction modifier
Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Existential restriction modifier
Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency	Finding site	Endocrine pancreatic structure	false	Inferred relationship	Existential restriction modifier
Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency	Is a	Digestive system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency	Finding site	Endocrine pancreatic structure	true	Inferred relationship	Existential restriction modifier	1
Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency	Is a	Congenital disease	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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	SNOMED CT core module
3308279018	Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3308280015	Hyperinsulinism due to HNF4A deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module