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717182006: hyperinsulinisme par déficit en glucokinase (trouble)


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
750691000241113 hyperinsulinisme par déficit en glucokinase (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
950821000172114 hyperinsulinisme par déficit en glucokinase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
976151000172112 hypoglycémie hyperinsulinémique par déficit en glucokinase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3308611018 A form of diazoxide-sensitive diffuse hyperinsulinism caused by a lowered threshold for insulin release. Characterized by excessive/uncontrolled insulin secretion and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Activating mutations of GCK (7p15.3-p15.1) that encodes glucokinase have been identified as the cause. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3308612013 A form of diazoxide-sensitive diffuse hyperinsulinism caused by a lowered threshold for insulin release. Characterised by excessive/uncontrolled insulin secretion and recurrent episodes of profound hypoglycaemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Activating mutations of GCK (7p15.3-p15.1) that encodes glucokinase have been identified as the cause. 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) est un(e) (attribut) Congenital disease true Inferred relationship Some
Hyperinsulinism due to deficiency of glucokinase (disorder) Due to Deficiency of glucokinase true Inferred relationship Some 2
Hyperinsulinism due to deficiency of glucokinase (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Hyperinsulinism due to deficiency of glucokinase (disorder) est un(e) (attribut) Hyperinsulinism true Inferred relationship Some
Hyperinsulinism due to deficiency of glucokinase (disorder) est un(e) (attribut) Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Hyperinsulinism due to deficiency of glucokinase (disorder) localisation d'une constatation (attribut) structure du pancréas endocrine false Inferred relationship Some
Hyperinsulinism due to deficiency of glucokinase (disorder) est un(e) (attribut) Digestive system hereditary disorder true Inferred relationship Some
Hyperinsulinism due to deficiency of glucokinase (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Hyperinsulinism due to deficiency of glucokinase (disorder) localisation d'une constatation (attribut) structure du pancréas endocrine true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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