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 | 702816000 |
Code System Concept Name | Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) |
Code System Preferred Concept Name | Methyl-cytosine phosphate guanine binding protein-2 duplication 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Superseded By Concept | |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 | 07/31/2014 |
SDO Date Created | 07/31/2014 |
SDO Date Revised | 07/31/2014 |
Description | A rare X-linked genomic disorder associated with interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. In males the disease has characteristics of infantile onset hypotonia, severe global developmental delay, intellectual disability, progressive spasticity, seizures, gastrointestinal symptoms and recurrent respiratory infections. In females, the phenotype is more variable. The syndrome is due to Xq28 duplications (< 4 Mb) involving the dosage-sensitive gene MECP2. The pattern of inheritance is X-linked. The recurrence risk is significant if the duplication encompassing the MECP2 gene is inherited from the mother, but very low if the duplication is de novo. There is full disease penetrance in males and variable penetrance in females due to the level and type of X-inactivation. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3006199010 | Methyl-CpG (cytosine phosphate guanine) binding protein-2 duplication syndrome | Active | Synonym | false | false |
3006205015 | MECP2 duplication syndrome | Active | Synonym | false | false |
3006219015 | Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome | Active | Synonym | false | false |
3009035015 | Lubs X-linked mental retardation syndrome | Active | Synonym | false | false |
3643143014 | Lubs X-linked intellectual disability syndrome | Active | Synonym | false | false |
5169937018 | Proximal Xq28 duplication syndrome | Active | Synonym | false | false |
Parent Concepts
No parent concepts present.
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Other Relationships
No other relationships present.
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Child Concepts
No child concepts present.
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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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- Page last reviewed:December 5, 2018
- Page last updated:December 5, 2018
- Content source: