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 | 722439009 |
Code System Concept Name | Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder) |
Code System Preferred Concept Name | Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning 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Superseded By Concept | |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 | 01/31/2017 |
SDO Date Created | 01/31/2017 |
SDO Date Revised | 01/31/2017 |
Description | A very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy and iris hypoplasia. There is evidence this syndrome is caused by heterozygous mutation in the MIR184 gene on chromosome 15q25. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3332080017 | Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome | Active | Synonym | false | false |
3332081018 | EDICT syndrome | Active | Synonym | false | false |
3332082013 | EDICT (endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning) syndrome | Active | Synonym | false | false |
3332083015 | Autosomal dominant keratoconus with early-onset anterior polar cataract | Active | Synonym | false | false |
3332084014 | Familial keratoconus with cataract | 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: