124298009: Deficiency of glucokinase (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase\Deficiency of glucokinase

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

204009010 Deficiency of glucokinase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

727898017 Deficiency of glucokinase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4771821000241112 déficit en glucokinase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of glucokinase	Is a	Deficiency of transferase	true	Inferred relationship	Some
Deficiency of glucokinase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
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.	Due to	True	Deficiency of glucokinase	Inferred relationship	Some	2

This concept is not in any reference sets