FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

1363362004: Diazoxide-resistant diffuse 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
5448537012 Diazoxide-resistant diffuse hyperinsulinism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5448538019 Hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5448539010 Hyperinsulinemic hypoglycaemia, diazoxide-resistant diffuse form en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5448540012 Diazoxide-resistant diffuse hyperinsulinism (disorder) en Fully specified name 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 diffuse hyperinsulinism Is a Diazoxide-resistant hyperinsulinism (disorder) true Inferred relationship Some
Diazoxide-resistant diffuse hyperinsulinism 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 neonatal presentation of severe refractory hypoglycemia in the first two days of life, with limited response to medical management, sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to SUR1 deficiency. Persistent hypoglycemia, hyperglycemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated. Is a True Diazoxide-resistant diffuse hyperinsulinism Inferred relationship Some
A rare, congenital, isolated hyperinsulinism disorder characterized by neonatal presentation of severe refractory hypoglycemia in the first two days of life, with limited response to medical management, sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to Kir6.2 deficiency. Persistent hypoglycemia, hyperglycemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated. Is a True Diazoxide-resistant diffuse hyperinsulinism Inferred relationship Some

This concept is not in any reference sets

Back to Start