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1363363009: Diazoxide-resistant focal hyperinsulinism (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Apr 2025. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5448541011 Hyperinsulinemic hypoglycemia, diazoxide-resistant focal form en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5448542016 Diazoxide-resistant focal hyperinsulinism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5448543014 Hyperinsulinemic hypoglycaemia, diazoxide-resistant focal form en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5448544015 Diazoxide-resistant focal hyperinsulinism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Diazoxide-resistant focal hyperinsulinism (disorder) Is a Diazoxide-resistant hyperinsulinism (disorder) true Inferred relationship Some
Diazoxide-resistant focal hyperinsulinism (disorder) Finding site Endocrine pancreatic structure true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to a mutation in the ABCC8 gene. Pancreatic involvement is focal and can be cured by a selective partial pancreatectomy. Hypoglycemia may lead to variable clinical manifestations, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome. Is a True Diazoxide-resistant focal hyperinsulinism (disorder) Inferred relationship Some
A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome. Is a True Diazoxide-resistant focal hyperinsulinism (disorder) Inferred relationship Some

Reference Sets

GB English

US English

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