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 | 699298009 |
Code System Concept Name | Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type (disorder) |
Code System Preferred Concept Name | Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type (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Superseded By Concept | |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 | 01/31/2014 |
SDO Date Created | 01/31/2014 |
SDO Date Revised | 01/31/2014 |
Description | Rare syndrome with the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
2983598012 | Blepharophimosis-mental retardation syndrome, Say-Barber-Biesecker-Young-Simpson type | Active | Synonym | false | false |
2983642016 | Say-Barber-Biesecker-Young-Simpson syndrome | Active | Synonym | false | false |
2983655015 | Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Active | Synonym | false | false |
2983711017 | Blepharophimosis-intellectual deficit syndrome, Say-Barber/Biesecker/Young-Simpson type | Active | Synonym | false | false |
2983721013 | Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome | Active | Synonym | false | false |
2983738012 | Young-Simpson syndrome | Active | Synonym | false | false |
3782735016 | Hypothyroidism, dysmorphism, postaxial polydactyly, intellectual disability syndrome | Active | Synonym | false | false |
5066754016 | Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson 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: