Application Version: 4.0.6.9
Content Version: 2024.01.20
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Code System Update Calendar [PDF161KB]
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Code System Concept
Code System Concept Code | 718106009 |
Code System Concept Name | Hyperinsulinism and hyperammonemia syndrome (disorder) |
Code System Preferred Concept Name | Hyperinsulinism and hyperammonemia syndrome (disorder) |
Concept Status | Published |
Concept Status Date | 03/01/2024 |
Code System Name | SNOMED-CT |
Concept Details
Code System Code | PH_SNOMED-CT |
Code System OID | 2.16.840.1.113883.6.96 |
HL7 Table 0396 Code | SCT |
Superseded By Concept | |
SDO Concept Status | Active |
SDO Concept Status Date | 07/31/2016 |
SDO Date Created | 07/31/2016 |
SDO Date Revised | 07/31/2016 |
Description | 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. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3304055015 | Hyperinsulinism and hyperammonemia syndrome | Active | Synonym | false | false |
3304056019 | Hyperinsulinism and hyperammonaemia syndrome | Active | Synonym | false | false |
5285668015 | GLUD1 related hyperinsulinism and hyperammonaemia syndrome | Active | Synonym | false | false |
5285669011 | Glutamate dehydrogenase 1 related hyperinsulinism and hyperammonemia syndrome | Active | Synonym | false | false |
5285670012 | GLUD1 related hyperinsulinism and hyperammonemia syndrome | Active | Synonym | false | false |
5285671011 | Glutamate dehydrogenase 1 related hyperinsulinism and hyperammonaemia syndrome | Active | Synonym | false | false |
Parent Concepts
No parent concepts present.
|
Other Relationships
No other relationships present.
|
Child Concepts
No child concepts present.
|
Application Version: 4.0.6.9
Content Version: 2024.01.20
Release Notes [PDF285KB]
User Guide [PDF6.08MB]
Code System Update Calendar [PDF161KB]
Contact Us
Subscribe
Related Links
- PHIN Vocabulary Services
- Quick Links / Mapping Tools
- External Standards Resources
- Message Guides
- Developer's Guide
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- Page last reviewed:December 5, 2018
- Page last updated:December 5, 2018
- Content source: