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715830008: hyperinsulinisme door inspanning (aandoening)


Status: current, Not 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
3303851016 Exercise-induced hyperinsulinism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303852011 Exercise-induced hyperinsulinism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303853018 Exercise-induced hyperinsulinemic hypoglycemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303854012 Exercise-induced hyperinsulinaemic hypoglycaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6991621000146117 hyperinsulinisme door inspanning (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6991631000146115 hyperinsulinisme door inspanning nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3304226015 A form of diazoxide-sensitive diffuse hyperinsulinism characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. Patients present with recurring episodes of hypoglycemia associated with elevated insulin levels, within 30 minutes of a short period of anaerobic exercise. The degree of hypoglycemia associated with exercise is variable and is only partially responsive to diazoxide. Mutations in the promoter element of SLC16A1 leads to an inappropriate presence of monocarboxylic acid transporter 1(MCT1). Mutations of the promoter region of SLC16A1 that permit gene expression in pancreatic beta-cells identified to date are dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3304227012 A form of diazoxide-sensitive diffuse hyperinsulinism characterised by episodes of hypoglycaemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. Patients present with recurring episodes of hypoglycaemia associated with elevated insulin levels, within 30 minutes of a short period of anaerobic exercise. The degree of hypoglycaemia associated with exercise is variable and is only partially responsive to diazoxide. Mutations in the promoter element of SLC16A1 leads to an inappropriate presence of monocarboxylic acid transporter 1(MCT1). Mutations of the promoter region of SLC16A1 that permit gene expression in pancreatic beta-cells identified to date are dominant. 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
Exercise-induced hyperinsulinism (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Exercise-induced hyperinsulinism (disorder) Is a Hyperinsulinism true Inferred relationship Some
Exercise-induced hyperinsulinism (disorder) Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Exercise-induced hyperinsulinism (disorder) Finding site Endocrine pancreatic structure false Inferred relationship Some
Exercise-induced hyperinsulinism (disorder) Is a Digestive system hereditary disorder (disorder) true Inferred relationship Some
Exercise-induced hyperinsulinism (disorder) Occurrence Congenital false Inferred relationship Some 1
Exercise-induced hyperinsulinism (disorder) Finding site Endocrine pancreatic structure true Inferred relationship Some 1
Exercise-induced hyperinsulinism (disorder) Is a Hereditary metabolic disease false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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