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 | 773554009 |
Code System Concept Name | THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome (disorder) |
Code System Preferred Concept Name | THO complex 6-related developmental delay, microcephaly, facial dysmorphism 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Superseded By Concept | |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 | 01/31/2019 |
SDO Date Created | 01/31/2019 |
SDO Date Revised | 01/31/2019 |
Description | A rare genetic syndromic intellectual disability disorder with characteristics of global development delay, microcephaly, moderate to severe intellectual disability and facial dysmorphism which includes tall forehead, high anterior hairline, short upslanting palpebral fissures, deep-set eyes and a long nose with a low-hanging columella. Additionally congenital renal and cardiac malformations (such as horseshoe kidney, unilateral renal agenesis atrioventricular septal defects, patent ductus arteriosus) and corpus callosum dysplasia may be associated. The disease is caused by homozygous mutation in the THOC6 gene on chromosome 16p13. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3724064011 | THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome | Active | Synonym | false | false |
3724065012 | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Active | Synonym | false | false |
3724066013 | Beaulieu Boycott Innes syndrome | Active | Synonym | false | false |
3724068014 | BBIS - Beaulieu Boycott Innes 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
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- Developer's Guide
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- Page last reviewed:December 5, 2018
- Page last updated:December 5, 2018
- Content source: