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 | 734349003 |
Code System Concept Name | Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) |
Code System Preferred Concept Name | Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (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Superseded By Concept | |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 | 01/31/2018 |
SDO Date Created | 01/31/2018 |
SDO Date Revised | 01/31/2018 |
Description | A congenital contiguous gene deletion syndrome, which is a form of alpha-thalassemia characterised by microcytosis, hypochromia, normal haemoglobin level or mild anaemia, associated with developmental abnormalities. Caused by large deletions on chromosome band 16p13.3 which remove the alpha-globin genes (HBA1 and HBA2), and many other flanking genes. The gene(s) responsible for intellectual deficiency and other developmental abnormalities has not been clearly identified. All cases are due to de novo deletions or segregation for parental translocations inherited in an unbalanced manner. The prognosis is highly variable, depending on the degree of intellectual deficiency. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3505251017 | Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 | Active | Synonym | false | false |
3505252012 | Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16 | Active | Synonym | false | false |
3505253019 | ATR-16 syndrome | Active | Synonym | false | false |
3505254013 | Alpha thalassemia intellectual disability syndrome, deletion type | Active | Synonym | false | false |
3505255014 | Alpha thalassaemia intellectual disability syndrome, deletion type | 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: