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 DeCS Categories

C04 Neoplasms .
C04.557 Neoplasms by Histologic Type .
C04.557.450 Neoplasms, Connective and Soft Tissue .
C04.557.450.565 Neoplasms, Connective Tissue .
C04.557.450.565.575 Neoplasms, Bone Tissue .
C04.557.450.565.575.610 Osteochondroma .
C04.557.450.565.575.610.615 Osteochondromatosis .
C04.557.450.565.575.610.615.325 Exostoses, Multiple Hereditary .
C04.700 Neoplastic Syndromes, Hereditary .
C04.700.330 Exostoses, Multiple Hereditary .
C05 Musculoskeletal Diseases .
C05.116 Bone Diseases .
C05.116.099 Bone Diseases, Developmental .
C05.116.099.708 Osteochondrodysplasias .
C05.116.099.708.670 Osteochondroma .
C05.116.099.708.670.615 Osteochondromatosis .
C05.116.099.708.670.615.325 Exostoses, Multiple Hereditary .
C05.116.540 Hyperostosis .
C05.116.540.310 Exostoses .
C05.116.540.310.500 Exostoses, Multiple Hereditary .
C05.550 Joint Diseases .
C05.550.629 Nail-Patella Syndrome .
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities .
C16.131 Congenital Abnormalities .
C16.131.077 Abnormalities, Multiple .
C16.131.077.606 Nail-Patella Syndrome .
C16.320 Genetic Diseases, Inborn .
C16.320.600 Nail-Patella Syndrome .
C16.320.700 Neoplastic Syndromes, Hereditary .
C16.320.700.330 Exostoses, Multiple Hereditary .
C16.320.728 Osteochondrodysplasias .
C17 Skin and Connective Tissue Diseases .
C17.800 Skin Diseases .
C17.800.529 Nail Diseases .
C17.800.529.400 Nail-Patella Syndrome .
 
 Terms
 Synonyms & Historicals
Documents
LILACS e MDL
 
Nail-Patella Syndrome .
Fong Disease .
Hereditary Onycho-Osteodysplasia .
Hereditary Osteo-Onychodysplasias .
Onychoosteodysplasia .
Disease, Fong .
Hereditary Osteo-Onychodysplasia .
Nail Patella Syndrome .
Osteo Onychodysplasia, Hereditary .
Osteo-Onychodysplasias, Hereditary .
Syndrome, Nail-Patella .
Syndrome, Osterreicher .
Syndrome, Pelvic Horn .
Syndrome, Turner-Kieser .
Turner Kieser Syndrome .
Osteo-Onychodysplasia, Hereditary .
Osterreicher Syndrome .
Pelvic Horn Syndrome .
Turner-Kieser Syndrome .
A syndrome of multiple abnormalities characterized by the absence or hypoplasia of the PATELLA and congenital nail dystrophy. It is a genetically determined autosomal dominant trait. .
1.00
17444
 
Osteochondrodysplasias .
Chondrodystrophic Myotonia .
Dyschondroplasia .
Endosteal Hyperostosis, Autosomal Recessive .
Hyperphosphatasemia Tarda .
Late-Onset Spondyloepiphyseal Dysplasia .
Melnick-Needles Osteodysplasty .
Myotonic Chondrodystrophy .
Myotonic Myopathy, Dwarfism, Chondrodystrophy, And Ocular And Facial Abnormalities .
Osteodysplasty of Melnick and Needles .
SED Tarda .
SJA Syndrome .
Schwartz Jampel Aberfeld syndrome .
Schwartz-Jampel Syndrome, Type 1 .
Schwartz-Jampel-Aberfeld Syndrome .
Sost Sclerosing Bone Dysplasia .
Sost-Related Sclerosing Bone Dysplasia .
Spondylo-Epimetaphyseal Dysplasia With Myotonia .
Spondyloepiphyseal Dysplasia Tarda, X-Linked .
Spondyloepiphyseal Dysplasia, Late .
Van Buchem Disease .
X-Linked SED .
X-Linked SEDT .
X-Linked Spondyloepiphyseal Dysplasia Tarda .
Chondrodystrophy, Myotonic .
Dysplasia, Spondyloepiphyseal .
Late Onset Spondyloepiphyseal Dysplasia .
Late Spondyloepiphyseal Dysplasia .
Melnick Needles Osteodysplasty .
Melnick Needles Syndrome .
Myotonia, Chondrodystrophic .
Osteochondrodysplasia .
Osteodysplasty, Melnick-Needles .
SED, X-Linked .
SEDT, X-Linked .
Schwartz Jampel Syndrome .
Schwartz Jampel Syndrome, Type 1 .
Spondyloepiphyseal Dysplasia Tarda, X Linked .
Spondyloepiphyseal Dysplasia, Late-Onset .
Syndrome, Schwartz-Jampel-Aberfeld .
X Linked SED .
X Linked SEDT .
X Linked Spondyloepiphyseal Dysplasia Tarda .
Dyschondroplasias .
Hyperostosis Corticalis Generalisata .
Melnick-Needles Syndrome .
Multiple Epiphyseal Dysplasia .
Schwartz-Jampel Syndrome .
Spondyloepiphyseal Dysplasia .
Abnormal development of cartilage and bone. .
0.53
1114052
 
Exostoses, Multiple Hereditary .
Bessel-Hagen Disease .
Exostoses, Multiple, Type I .
Exostosis, Familial .
Exostosis, Hereditary Multiple .
Exostosis, Multiple .
Exostosis, Multiple Cartilaginous .
Familial Exostoses .
Hereditary Multiple Exostosis .
Multiple Cartilaginous Exostoses .
Multiple Hereditary Exostoses .
Multiple Osteochondromas .
Multiple Osteochondromatosis .
Aclases, Diaphyseal .
Aclasis, Diaphyseal .
Cartilaginous Exostoses, Multiple .
Cartilaginous Exostosis, Multiple .
Chondrodysplasias, Hereditary Deforming .
Deforming Chondrodysplasia, Hereditary .
Deforming Chondrodysplasias, Hereditary .
Diaphyseal Aclases .
Familial Exostosis .
Hereditary Deforming Chondrodysplasia .
Hereditary Deforming Chondrodysplasias .
Hereditary Exostoses, Multiple .
Multiple Cartilaginous Exostosis .
Multiple Exostoses .
Multiple Exostoses, Hereditary .
Multiple Exostosis .
Multiple Exostosis, Hereditary .
Multiple Osteochondroma .
Osteochondroma, Multiple .
Diaphyseal Aclasis .
Chondrodysplasia, Hereditary Deforming .
Exostoses, Hereditary Multiple .
Exostoses, Multiple .
Exostoses, Multiple Cartilaginous .
Hereditary Multiple Exostoses .
Osteochondromas, Multiple .
Exostoses, Familial .
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. .
0.49
391097