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 | 715342005 |
Code System Concept Name | Alpha thalassemia X-linked intellectual disability syndrome (disorder) |
Code System Preferred Concept Name | Alpha thalassemia X-linked intellectual disability 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Superseded By Concept | |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 | 07/31/2016 |
SDO Date Created | 07/31/2016 |
SDO Date Revised | 07/31/2016 |
Description | In males the syndrome is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia. Female carriers are usually physically and intellectually normal. Language is usually very limited. Seizures occur in about one third of the cases. While many patients are affectionate with their caregivers, some exhibit autistic-like behavior. Patients present with facial hypotonia and a characteristic mouth. Genital abnormalities are observed in 80% of children and range from undescended testes to ambiguous genitalia. This syndrome is X-linked recessive and results from mutations in the ATRX gene. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3302290016 | Alpha thalassemia X-linked intellectual disability syndrome | Active | Synonym | false | false |
3302291017 | Alpha thalassaemia X-linked intellectual disability syndrome | Active | Synonym | false | false |
3302292012 | Alpha thalassemia X-linked intellectual deficit | Active | Synonym | false | false |
3302293019 | Alpha thalassaemia X-linked intellectual deficit | 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: