Application Version: 4.0.6.9
Content Version: 2024.01.20
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Code System Concept
Code System Concept Code | 70694009 |
Code System Concept Name | Wolfram syndrome (disorder) |
Code System Preferred Concept Name | Wolfram 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Superseded By Concept | |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 | 01/31/2002 |
SDO Date Created | 01/31/2002 |
SDO Date Revised | 01/31/2002 |
Description | A rare genetic endocrine disorder with characteristics of type 1 diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Two types of Wolfram syndrome may be distinguished: type 1 (WS1) and type 2 (WS2). Two causative genes have been identified: WFS1 (4p16.1) and CISD2 (4q24). The clinical criteria for Wolfram syndrome diagnosis are juvenile-onset diabetes mellitus and optic atrophy, family history of Wolfram syndrome or diabetes mellitus and deafness. Transmission is autosomal recessive. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
117422014 | Diabetes mellitus AND insipidus with optic atrophy AND deafness | Active | Synonym | false | false |
117424010 | Marquardt-Loriaux syndrome | Active | Synonym | false | false |
117425011 | DIDMOAD syndrome | Active | Synonym | false | false |
1233305011 | DIDMOAD - Diabetes insipidus,diabetes mellitus, optic atrophy and deafness | Active | Synonym | false | false |
1233306012 | Diabetes insipidus,diabetes mellitus, optic atrophy and deafness | Active | Synonym | false | false |
1233307015 | Wolfram syndrome | Active | Synonym | false | false |
1233308013 | Diabetes insipidus,diabetes mellitus, optic atrophy and deafness (disorder) | Active | Synonym | false | false |
3028935019 | Diabetes insipidus, diabetes mellitus, optic atrophy and deafness | Active | Synonym | false | false |
3028979016 | DIDMOAD - Diabetes insipidus, diabetes mellitus, optic atrophy and deafness | Active | Synonym | false | false |
5247887014 | DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, deafness) syndrome | Active | Synonym | false | false |
Parent Concepts
No parent concepts present.
|
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
- Message Guides
- Developer's Guide
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- Page last reviewed:December 5, 2018
- Page last updated:December 5, 2018
- Content source: