Application Version: 4.0.6.10
Content Version: 2024.07.12
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Code System Concept
Code System Concept Code | 1279835008 |
Code System Concept Name | Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) |
Code System Preferred Concept Name | Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly 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Superseded By Concept | |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 | 03/01/2024 |
SDO Date Created | 04/30/2023 |
SDO Date Revised | 04/30/2023 |
Description | A rare ectodermal dysplasia syndrome with characteristics of hypotrichosis, tooth enamel hypoplasia, hypoplastic nails, palmoplantar keratoderma, hyperhidrosis on hands, face, and scalp, bilateral partial cutaneous syndactyly and dysmorphic facial features with large prominent ear pinnae, pointed nose, and thin upper lips. Association of cardiomegaly has also been reported. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
5234040014 | Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome | Active | Synonym | false | false |
- Page last reviewed:June 20, 2024
- Page last updated:June 20, 2024
- Content source: