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 | 28861008 |
Code System Concept Name | Crouzon syndrome (disorder) |
Code System Preferred Concept Name | Crouzon 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Superseded By Concept | |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 | Disease with characteristics of craniosynostosis and facial hypoplasia. Craniosynostosis is variable but many sutures are usually involved. Facial anomalies include ocular hypertelorism, small beaked nose, proptosis, exophthalmos, hypoplastic maxilla and mandibular prognathism. Caused by mutations of the fibroblast growth factor receptor FGFR2 (10q25.3-q26) with 80% being located to the immunoglobulin (Ig)-like domain III (IgIII domain) of the extracellular region and an additional 20% of mutations being located in the IgI-IgII domains, transmembrane and tyrosine kinase regions. The disease is transmitted in an autosomal dominant manner with variable penetrance. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
4022292014 | Crouzon craniofacial dysostosis | Active | Synonym | false | false |
48325018 | Crouzon syndrome | Active | Synonym | false | false |
48326017 | Craniofacial dysostosis | Active | Synonym | false | false |
48327014 | Crouzon's disease | Active | Synonym | false | false |
48328016 | Apert-Crouzon syndrome | Active | Synonym | false | false |
48329012 | Acrocephalosyndactyly, type II | Active | Synonym | false | false |
48330019 | Vogt cephalosyndactyly | Active | Synonym | false | false |
483997010 | Trigorhinophalangeal dysplasia | 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: