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 | 398958000 |
Code System Concept Name | Chondrodysplasia punctata, X-linked dominant type (disorder) |
Code System Preferred Concept Name | Chondrodysplasia punctata, X-linked dominant type (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Superseded By Concept | |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 | 07/31/2003 |
SDO Date Created | 07/31/2003 |
SDO Date Revised | 07/31/2003 |
Description | A rare genodermatosis disease with great phenotypic variation and most common characteristic of ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature. Caused by mutations in the EBP gene (Xp11.23-p11.22) encoding the emopamil binding protein (EBP), which acts as a delta8-delta7-sterol isomerase that catalyses the conversion of 8(9)-cholestenol to lathosterol in the distal cholesterol biosynthesis pathway. A deficiency in EBP leads to the accumulation of 8-dehydrocholesterol (8DHC) and 8(9)-cholestenol in the skin, plasma and other body tissues. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
1778432019 | Chondrodysplasia punctata, X-linked dominant type | Active | Synonym | false | false |
4594527011 | Conradi Hünermann Happle syndrome | Active | Synonym | false | false |
4594528018 | X-linked chondrodysplasia punctata type 2 | Active | Synonym | false | false |
4594529014 | Chondrodystrophia calcificans congenita | Active | Synonym | false | false |
4594530016 | Happle syndrome | 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
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Downloads
- Page last reviewed:December 5, 2018
- Page last updated:December 5, 2018
- Content source: