Application Version: 4.0.6.10
Content Version: 2024.07.12
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Code System Concept
Code System Concept Code | 715522000 |
Code System Concept Name | Phocomelia Schinzel type (disorder) |
Code System Preferred Concept Name | Phocomelia Schinzel type (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Superseded By Concept | |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 | 07/31/2016 |
SDO Date Created | 07/31/2016 |
SDO Date Revised | 07/31/2016 |
Description | Skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. Only a few cases have been described. Patients have intercalary limb deficiencies (phocomelia sometimes combined with polydactyly, oligodactyly or ectrodactyly), absent or hypoplastic pelvic bones (including sacral agenesis or hypoplasia) and skull defects. Additional features may include thoracic dystrophy, unusual facies (dysplastic and large ears, and a high and narrow palate), and genital malformations.Growth and mental development are normal. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3302905014 | Phocomelia Schinzel type | Active | Synonym | false | false |
3302906010 | Al Awadi-Raas-Rothschild syndrome | Active | Synonym | false | false |
3302907018 | Schinzel phocomelia syndrome | Active | Synonym | false | false |
Parent Concepts
Parent Concepts
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Other Relationships
No other relationships present.
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Child Concepts
No child concepts present.
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- Page last reviewed:June 20, 2024
- Page last updated:June 20, 2024
- Content source: