783741006: Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Abdominal organ finding\Finding of pancreas\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency

\Digestive system finding\Finding of pancreas\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Diazoxide-resistant focal hyperinsulinism due to Kir6.2 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\Diazoxide-resistant focal hyperinsulinism due to Kir6.2 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\Diazoxide-resistant focal hyperinsulinism due to Kir6.2 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\Diazoxide-resistant focal hyperinsulinism due to Kir6.2 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\Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Diazoxide-resistant focal hyperinsulinism due to Kir6.2 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\Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose regulation\Hyperinsulinism\Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
\Disease\Congenital disease\Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3760116010 Hyperinsulinemic hypoglycaemia due to Kir6.2 deficiency, diazoxide-resistant focal form en Synonym Active Only initial character case insensitive SNOMED CT core module
3760117018 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module
3760118011 Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form en Synonym Active Only initial character case insensitive SNOMED CT core module
3760119015 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency	Is a	Digestive system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency	Finding site	Endocrine pancreatic structure	true	Inferred relationship	Existential restriction modifier	1
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency	Is a	Hyperinsulinism	true	Inferred relationship	Existential restriction modifier
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Existential restriction modifier
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 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
3760116010	Hyperinsulinemic hypoglycaemia due to Kir6.2 deficiency, diazoxide-resistant focal form	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3760117018	Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3760118011	Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3760119015	Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module