loading...| Preferred Name |
Melorheostosis with osteopoikilosis |
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| Synonyms |
Melorheostosis with osteopoikilosis (disorder) |
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| Definitions |
A rare sclerosing bone dysplasia combining the clinical and radiological features of melorheostosis and osteopoikilosis. The disease has been reported in some families with osteopoikilosis and with variable presentation of limb pain and deformities. Caused by a germline mutation in the LEMD3 gene (12q14), which may predispose individuals with osteopoikilosis to develop melorheostosis. Inheritance is autosomal dominant. |
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| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/1197053003 |
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| Active |
1 |
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| altLabel |
Melorheostosis with osteopoikilosis (disorder) Mixed sclerosing bone dystrophy MSBD (mixed sclerosing bone dystrophy) syndrome |
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| CASE SIGNIFICANCE ID |
900000000000448009 900000000000017005 |
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| CTV3ID |
XVHbx |
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| cui |
C3149695 |
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| definition |
A rare sclerosing bone dysplasia combining the clinical and radiological features of melorheostosis and osteopoikilosis. The disease has been reported in some families with osteopoikilosis and with variable presentation of limb pain and deformities. Caused by a germline mutation in the LEMD3 gene (12q14), which may predispose individuals with osteopoikilosis to develop melorheostosis. Inheritance is autosomal dominant. |
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| DEFINITION STATUS ID |
900000000000074008 |
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| Effective time |
20220228 |
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| Has associated morphology | ||
| Has finding site | ||
| Has interpretation | ||
| Has pathological process | ||
| interprets | ||
| notation |
1197053003 |
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| Occurs in | ||
| prefLabel |
Melorheostosis with osteopoikilosis |
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| Subset member |
447562003~MAPRULE~TRUE 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 447562003~MAPADVICE~ALWAYS M85.89 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION 900000000000508004~ACCEPTABILITYID~900000000000549004 6011000124106~MAPADVICE~ALWAYS M85.80 447562003~MAPGROUP~1 6011000124106~MAPADVICE~ALWAYS Q78.8 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000497000~MAPTARGET~XVHbx 900000000000508004~ACCEPTABILITYID~900000000000548007 6011000124106~MAPTARGET~Q78.8 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 447562003~MAPTARGET~M85.89 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 6011000124106~MAPTARGET~M85.80 6011000124106~MAPRULE~TRUE 900000000000509007~ACCEPTABILITYID~900000000000549004 |
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| tui |
T047 |
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| Type ID |
900000000000003001 900000000000013009 |
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| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/363070008 http://purl.bioontology.org/ontology/SNOMEDCT/44697002 http://purl.bioontology.org/ontology/SNOMEDCT/11164009 |