Application Version: 4.0.6.9
Content Version: 2024.01.20
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User Guide [PDF6.08MB]
Code System Update Calendar [PDF161KB]
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Code System Concept
Code System Concept Code | 725028009 |
Code System Concept Name | Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation (disorder) |
Code System Preferred Concept Name | Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation (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Superseded By Concept | |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 form of congenital disorders of N-linked glycosylation characterised by generalised hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate, retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinaemia with generalised oedema and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1). |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3437641015 | Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation | Active | Synonym | false | false |
3437642010 | Carbohydrate deficient glycoprotein syndrome type IIb | Active | Synonym | false | false |
3437643017 | Congenital disorder of glycosylation type 2b | Active | Synonym | false | false |
3437644011 | Congenital disorder of glycosylation type IIb | Active | Synonym | false | false |
3437645012 | Glucosidase 1 deficiency | Active | Synonym | false | false |
3437646013 | MOGS CDG - mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation | 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
Downloads
- Page last reviewed:December 5, 2018
- Page last updated:December 5, 2018
- Content source: