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717182006: Hyperinsulinism due to deficiency of glucokinase (disorder)


Status: current, 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
3308608019 Hyperinsulinism due to deficiency of glucokinase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3308609010 Hyperinsulinism due to deficiency of glucokinase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3308610017 Hyperinsulinism due to glucokinase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401495013 A form of diffuse hyperinsulinism due to glucokinase hyperactivity and characterized by an excessive/uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of hypoglycemia induced by fasting and glucose rich meals. The clinical spectrum can range from mild and intermediate cases that respond well to dietary modifications and medical management with diazoxide to severe cases that are unresponsive to diazoxide. The potential development of type 2 diabetes with age is another notable feature. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401496014 A form of diffuse hyperinsulinism due to glucokinase hyperactivity and characterised by an excessive/uncontrolled insulin secretion (inappropriate for the level of glycaemia) and recurrent episodes of hypoglycaemia induced by fasting and glucose rich meals. The clinical spectrum can range from mild and intermediate cases that respond well to dietary modifications and medical management with diazoxide to severe cases that are unresponsive to diazoxide. The potential development of type 2 diabetes with age is another notable feature. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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