Application Version: 4.0.6.10
Content Version: 2024.07.12
Release Notes [PDF288KB]
User Guide [PDF6.08MB]
Code System Update Calendar
Contact Us
Subscribe
Related Links
- PHIN Vocabulary Services
- Quick Links / Mapping Tools
- External Standards Resources
- Message Guides
- Developer's Guide
- PHINVADS FHIR API
Downloads
- RCMT Quick Search
Code System Concept
Code System Concept Code | 783768006 |
Code System Concept Name | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency (disorder) |
Code System Preferred Concept Name | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency (disorder) |
Concept Status | Published |
Concept Status Date | 09/01/2024 |
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Superseded By Concept | |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 | 07/31/2019 |
SDO Date Created | 07/31/2019 |
SDO Date Revised | 07/31/2019 |
Description | A rare congenital isolated hyperinsulinism disorder with characteristics of neonatal presentation of severe refractory hypoglycaemia 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 hypoglycaemia, hyperglycaemia and type 1 diabetes mellitus may develop later in life. Life-threatening hypoglycaemic coma or status epilepticus have also been associated. Caused by mutation in the gene encoding the Kir6.2 subunit of the inwardly rectifying potassium channel (KCNJ11). |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3760288013 | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | Active | Synonym | false | false |
3760290014 | Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency | Active | Synonym | false | false |
3760291013 | Autosomal recessive hyperinsulinemic hypoglycaemia due to Kir6.2 deficiency | Active | Synonym | false | false |
Parent Concepts
Parent Concepts
Parent/Child (Relationship Type)
Autosomal recessive hereditary disorder (disorder)
{85995004
, SNOMED-CT
}
Congenital disease (disorder)
{66091009
, SNOMED-CT
}
Digestive system hereditary disorder (disorder)
{363080007
, SNOMED-CT
}
Disorder of digestive system specific to fetus OR newborn (disorder)
{42357009
, SNOMED-CT
}
Hereditary disorder of endocrine system (disorder)
{363104002
, SNOMED-CT
}
Hyperinsulinism (disorder)
{83469008
, SNOMED-CT
}
|
Other Relationships
No other relationships present.
|
Child Concepts
No child concepts present.
|
- Page last reviewed:June 20, 2024
- Page last updated:June 20, 2024
- Content source: