Osteochondromatosis
(Subscribe)
A condition marked by the presence of multiple osteochondromas.
[OCOSH Code: D018216 254044004 M9210/1 BD_DBD_OCDYS_OC_OC]
Categories
- Multiple Hereditory Exostoses (9)
- Hereditary disorder transmitted by an autosomal dominant gene and characterized by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation.
MeSH Term "Exostoses, Multiple Hereditary"[mesh]
ICD-10 Code Q78.6 Multiple congenital exostoses
SNOMED-CT Term Multiple congenital exostosis (disorder) Concept ID: 254044004 Many Synonyms including Hereditary Deforming Chondrodysplasia Familial Exostoses Diaphyseal Aclasis
Comment: this condition is not recognised as distinct from osteochondromatosis by SNOMED or ICD-10 but is by MeSH and OMIM
OCOSH Code: D005097 254044004 Q78.6 BD_DBD_OCDYS_OC_OC_MHE
Resources
Chondrosarcoma arising from an osteochondroma in a patient with hereditary multiple exostoses
Location: http://www.cma.ca/multimedia/staticContent/HTML/N0/l2/cjs/vol-51/issue-5/pdf/pg397.pdfEric J. Heffernan, MB BCh; Fahad O. Alkubaidan, MD; and Peter L. Munk, MD Can J Surg, Vol. 51, No. 5, October 2008 397
View Details Visit Resource Review It Rate It Bookmark It Added: Tue Sep 30 2008
diaphyseal aclasis
Location: http://myweb.lsbu.ac.uk/dirt/museum/48--1542.htmlRoutine chest in a 27 year old male with long standing abnormality.
There are multiple exostoses, which are associated with a modelling abnormality in the bones, particularly the proximal humeri. There is calcification over the proximal metaphysis of the right humerus and two projections from then upper part of the...
View Details Visit Resource Review It Rate It Bookmark It Added: Thu Jan 31 2002
Diaphyseal aclasis information Disease Database
Location: http://www.diseasesdatabase.com/ddb29635.htmView Details Visit Resource Review It Rate It Bookmark It Added: Sun Dec 10 2006
Multiple Hereditory Exostosis OMIM
Location: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133700View Details Visit Resource Review It Rate It Bookmark It Added: Sun Dec 10 2006
Osteochondroma and Osteochondromatosis eMedicine
Location: http://www.emedicine.com/radio/topic496.htmView Details Visit Resource Review It Rate It Bookmark It Added: Sun Dec 10 2006
Osteochondromatosis MedPix
Location: http://rad.usuhs.mil/medpix/medpix.html?mode=single&recnum=3326View Details Visit Resource Review It Rate It Bookmark It Added: Sun Dec 10 2006