Application Version: 4.0.6.10
Content Version: 2024.07.12
Release Notes [PDF288KB]
User Guide [PDF6.08MB]
Code System Update Calendar
Contact Us
Subscribe
Related Links
- PHIN Vocabulary Services
- Quick Links / Mapping Tools
- External Standards Resources
- Message Guides
- Developer's Guide
- PHINVADS FHIR API
Downloads
- RCMT Quick Search
Code System Concept
Code System Concept Code | 783700001 |
Code System Concept Name | Syndactyly, polydactyly, ear lobe syndrome (disorder) |
Code System Preferred Concept Name | Syndactyly, polydactyly, ear lobe syndrome (disorder) |
Concept Status | Published |
Concept Status Date | 09/01/2024 |
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Superseded By Concept | |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 | 07/31/2019 |
SDO Date Created | 07/31/2019 |
SDO Date Revised | 07/31/2019 |
Description | A rare genetic congenital limb malformation syndrome with characteristics of complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3759769013 | Syndactyly, polydactyly, ear lobe syndrome | Active | Synonym | false | false |
Parent Concepts
Parent Concepts
Parent/Child (Relationship Type)
Congenital abnormality of external ear (disorder)
{282038006
, SNOMED-CT
}
Congenital anomaly of lobe of ear (disorder)
{840482005
, SNOMED-CT
}
Disorder of pinna (disorder)
{41663005
, SNOMED-CT
}
Dysostosis (disorder)
{109420003
, SNOMED-CT
}
Genetic disease (disorder)
{782964007
, SNOMED-CT
}
Multiple malformation syndrome with limb defect as major feature (disorder)
{41443008
, SNOMED-CT
}
Polydactyly of fingers (disorder)
{81793007
, SNOMED-CT
}
Polysyndactyly (disorder)
{84598000
, SNOMED-CT
}
Syndactyly of toes (disorder)
{32113001
, SNOMED-CT
}
|
Other Relationships
No other relationships present.
|
Child Concepts
No child concepts present.
|
- Page last reviewed:June 20, 2024
- Page last updated:June 20, 2024
- Content source: