loading...| Preferred Name |
Cranioosteoarthropathy |
|
| Synonyms |
Currarino idiopathic osteoarthropathy Reginato Schiapachasse syndrome Cranioosteoarthropathy (disorder) Currarino disease Cranio-osteoarthropathy |
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| Definitions |
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. |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/720753002 |
|
| Active |
1 |
|
| altLabel |
Currarino idiopathic osteoarthropathy Reginato Schiapachasse syndrome Cranioosteoarthropathy (disorder) Currarino disease Cranio-osteoarthropathy |
|
| CASE SIGNIFICANCE ID |
900000000000448009 900000000000017005 |
|
| CTV3ID |
XUuHB |
|
| cui |
C2930922 C2678439 |
|
| definition |
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. |
|
| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20170131 |
|
| Has associated morphology | ||
| Has finding site | ||
| Has interpretation | ||
| Has pathological process | ||
| interprets | ||
| notation |
720753002 |
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| Occurs in | ||
| prefLabel |
Cranioosteoarthropathy |
|
| Subset member |
447562003~MAPRULE~TRUE 6011000124106~MAPGROUP~1 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPTARGET~Q75.8 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 447562003~MAPADVICE~ALWAYS M89.48 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPTARGET~M89.48 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 6011000124106~MAPADVICE~ALWAYS Q75.8 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~TRUE 900000000000497000~MAPTARGET~XUuHB 900000000000509007~ACCEPTABILITYID~900000000000549004 |
|
| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
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| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/363070008 http://purl.bioontology.org/ontology/SNOMEDCT/85995004 http://purl.bioontology.org/ontology/SNOMEDCT/254120004 |