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exostózy mnohopočetné dedičné
Record number d005097 Date 06.06.2025 Type M Topical term exostózy mnohopočetné dedičné Other term English (Pseudonym) Chondrodysplasia, Hereditary Deforming
English (Pseudonym) Diaphyseal Aclasis
English (Pseudonym) Exostoses, Familial
English (Pseudonym) Exostoses, Hereditary Multiple
English (Pseudonym) Exostoses, Multiple
English (Pseudonym) Exostoses, Multiple Cartilaginous
English (Pseudonym) Hereditary Multiple Exostoses
English (Pseudonym) Osteochondromas, Multiple
Slovak (Pseudonym) chondrodysplázia diafýzová
Slovak (Pseudonym) exostózy mnohopočetné chrupavčité dedičné
Slovak (Pseudonym) chondrodysplasia deformans hereditaria
Slovak (Pseudonym) osteochondrómy mnohopočetné
UDC C04.557.450.565.575.610.615.325C04.700.330C05.116.099.708.670.615.325C05.116.540.310.500C16.320.700.330 Note 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. 
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Number of the records: 1