Application Version: 4.0.6.10
Content Version: 2024.07.12
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Code System Concept
Code System Concept Code | 720753002 |
Code System Concept Name | Cranioosteoarthropathy (disorder) |
Code System Preferred Concept Name | Cranioosteoarthropathy (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Superseded By Concept | |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 | 01/31/2017 |
SDO Date Created | 01/31/2017 |
SDO Date Revised | 01/31/2017 |
Description | A form of primary hypertrophic osteoarthropathy with characteristics of delayed closure of the cranial sutures and fontanelles, digital clubbing, arthropathy, and periostosis. To date, about 30 cases have been reported. May also be associated with congenital heart disease. It is caused by mutations in the HPGD gene (4q33-q34) and is inherited as an autosomal recessive trait. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3322005018 | Cranioosteoarthropathy | Active | Synonym | false | false |
3322006017 | Cranio-osteoarthropathy | Active | Synonym | false | false |
3322007014 | Currarino disease | Active | Synonym | false | false |
3322008016 | Currarino idiopathic osteoarthropathy | Active | Synonym | false | false |
3322009012 | Reginato Schiapachasse syndrome | Active | Synonym | false | false |
Parent Concepts
Parent Concepts
Parent/Child (Relationship Type)
Autosomal recessive hereditary disorder (disorder)
{85995004
, SNOMED-CT
}
Congenital anomaly of skull (disorder)
{51655004
, SNOMED-CT
}
Connective tissue hereditary disorder (disorder)
{363045008
, SNOMED-CT
}
Developmental hereditary disorder (disorder)
{363070008
, SNOMED-CT
}
Dysplasia with increased bone density (disorder)
{254120004
, SNOMED-CT
}
Hereditary disorder of musculoskeletal system (disorder)
{363212003
, 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: