Application Version: 4.0.6.9
Content Version: 2024.01.20
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Code System Concept
Code System Concept Code | 767263007 |
Code System Concept Name | 22q11.2 deletion syndrome (disorder) |
Code System Preferred Concept Name | 22q11.2 deletion 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Superseded By Concept | |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 | 07/31/2018 |
SDO Date Created | 07/31/2018 |
SDO Date Revised | 07/31/2018 |
Description | A chromosomal anomaly that causes a congenital malformation disorder with common features that includes cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. The disease has a variable clinical phenotype that ranges from mild to severe. The broad spectrum of clinical phenotypes that the syndrome encompasses was previously divided into distinct syndromes (for example DiGeorge syndrome, velocardiofacial syndrome, cardiofacial syndrome) but are now known to be identical and are referred to as 22q11.2 deletion sydrome. In most cases, the syndrome is due to a 3 million base pair (Mb) deletion on the chromosomal region 22q11.2 that is flanked by low copy number repeats. The deletion is due to a non-allelic meiotic recombination during spermatogenesis or oogenesis. The variable expression of the 22q11.2 phenotype is thought to be due to genetic modifiers on either the other 22q11.2 allele or on other chromosomes. The deletion arises de novo in 90% of the cases. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3670117015 | Velocardiofacial syndrome | Active | Synonym | false | false |
3670119017 | Sedlackova syndrome | Active | Synonym | false | false |
3670120011 | Conotruncal anomaly face syndrome | Active | Synonym | false | false |
3670121010 | Cayler cardiofacial syndrome | Active | Synonym | false | false |
3670122015 | DiGeorge syndrome | Active | Synonym | false | false |
3670123013 | Shprintzen syndrome | Active | Synonym | false | false |
3670124019 | 22q11.2 deletion syndrome | Active | Synonym | false | false |
3670125018 | DiGeorge sequence | Active | Synonym | false | false |
3670126017 | CATCH 22 | Active | Synonym | false | false |
3670127014 | Microdeletion 22q11.2 | Active | Synonym | false | false |
3670128016 | Takao 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
- Message Guides
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- Page last reviewed:December 5, 2018
- Page last updated:December 5, 2018
- Content source: