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 | 725393000 |
Code System Concept Name | Autosomal dominant primary hypomagnesemia with hypocalciuria (disorder) |
Code System Preferred Concept Name | Autosomal dominant primary hypomagnesemia with hypocalciuria (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Superseded By Concept | |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 | 07/31/2017 |
SDO Date Created | 07/31/2017 |
SDO Date Revised | 07/31/2017 |
Description | A mild form of familial primary hypomagnesaemia characterised by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed. Only one large pedigree with 18 affected individuals has been reported in the literature. Caused by mutations in the FXYD2 gene (11q23; mutation p.Gly41Arg) which encodes the gamma subunit of the Na+/K+-ATPase, localised on the basolateral membranes of nephron epithelial cells and expressed in the distal convoluted tubule. Transmission is autosomal dominant. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3441991010 | Autosomal dominant primary hypomagnesemia with hypocalciuria | Active | Synonym | false | false |
3441992015 | Autosomal dominant primary hypomagnesaemia with hypocalciuria | Active | Synonym | false | false |
3441993013 | Isolated renal magnesium wasting | Active | Synonym | false | false |
3441994019 | HOMG2 - renal hypomagnesemia type 2 | Active | Synonym | false | false |
3441995018 | Isolated autosomal dominant hypomagnesemia | Active | Synonym | false | false |
3441996017 | HOMG2 - renal hypomagnesaemia type 2 | Active | Synonym | false | false |
3441997014 | Isolated autosomal dominant hypomagnesaemia | Active | Synonym | false | false |
Parent Concepts
No parent concepts present.
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Other Relationships
No other relationships present.
|
Child Concepts
No child concepts present.
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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
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- Developer's Guide
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- Page last reviewed:December 5, 2018
- Page last updated:December 5, 2018
- Content source: