Application Version: 4.0.6.10
Content Version: 2024.07.12
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Code System Concept
Code System Concept Code | 726032008 |
Code System Concept Name | Short rib polydactyly syndrome type I (disorder) |
Code System Preferred Concept Name | Short rib polydactyly syndrome type I (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Superseded By Concept | |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 | 07/31/2017 |
SDO Date Created | 07/31/2017 |
SDO Date Revised | 07/31/2017 |
Description | An extremely rare type of short rib polydactyly syndrome with neonatal onset. The disease has characteristics of polydactyly, hydropic appearance, and small thorax with short horizontal ribs causing fatal cardiorespiratory distress. Affected patients also have extreme micromelia (flipper-like extremities), pointed metaphyses and a range of other ossification defects. Extraskeletal manifestations may include polycystic kidneys, transposition of the great vessels and atresia of the gastrointestinal and genitourinary systems. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3447659019 | Short rib polydactyly syndrome Saldino Noonan type | Active | Synonym | false | false |
3447660012 | Saldino Noonan syndrome | Active | Synonym | false | false |
3447661011 | Short rib polydactyly syndrome type 1 | Active | Synonym | false | false |
3447662016 | Short rib polydactyly syndrome type I | Active | Synonym | false | false |
Parent Concepts
Parent Concepts
Parent/Child (Relationship Type)
Autosomal recessive hereditary disorder (disorder)
{85995004
, SNOMED-CT
}
Congenital anomaly of rib (disorder)
{123572006
, SNOMED-CT
}
Connective tissue hereditary disorder (disorder)
{363045008
, SNOMED-CT
}
Hereditary disorder of musculoskeletal system (disorder)
{363212003
, SNOMED-CT
}
Micromelia (disorder)
{74370006
, SNOMED-CT
}
Polydactyly (disorder)
{367506006
, SNOMED-CT
}
Short rib polydactyly syndrome (disorder)
{205484001
, 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: