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718106009: Hyperinsulinism and hyperammonemia syndrome (disorder)


Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3304054016 Hyperinsulinism and hyperammonemia syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3304055015 Hyperinsulinism and hyperammonemia syndrome en Synonym Active Case insensitive SNOMED CT core
3304056019 Hyperinsulinism and hyperammonaemia syndrome en Synonym Active Case insensitive SNOMED CT core
3311195011 A frequent form of diazoxide-sensitive diffuse hyperinsulinism characterized by an excessive uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur. en Definition Active Case sensitive SNOMED CT core
3311196012 A frequent form of diazoxide-sensitive diffuse hyperinsulinism characterised by an excessive uncontrolled insulin secretion (inappropriate for the level of glycaemia), asymptomatic hyperammonaemia and recurrent episodes of profound hypoglycaemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycaemia may also occur. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hyperinsulinism and hyperammonaemia syndrome Is a Congenital disease true Inferred relationship Some
Hyperinsulinism and hyperammonaemia syndrome Is a Hyperammonaemia true Inferred relationship Some
Hyperinsulinism and hyperammonaemia syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Hyperinsulinism and hyperammonaemia syndrome Is a Hyperinsulinism true Inferred relationship Some
Hyperinsulinism and hyperammonaemia syndrome Is a Hereditary disorder of endocrine system true Inferred relationship Some
Hyperinsulinism and hyperammonaemia syndrome Finding site Endocrine pancreatic structure false Inferred relationship Some
Hyperinsulinism and hyperammonaemia syndrome Is a Digestive system hereditary disorder true Inferred relationship Some
Hyperinsulinism and hyperammonaemia syndrome Occurrence Congenital true Inferred relationship Some 1
Hyperinsulinism and hyperammonaemia syndrome Finding site Endocrine pancreatic structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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