Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Renal osteodystrophy with low bone turnover (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Congenital dysplasia of bone caused by drug |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Open multiple fractures of clavicle and/or scapula and/or humerus (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
3 |
Multiple fractures of clavicle, scapula and humerus |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
4 |
Secondary osteoporotic fracture (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Pathologic fracture of bone at site of metastatic neoplasm (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
2 |
Traumatic fracture of bone (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Osteogenesis imperfecta type 5 (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Rhizomelic chondrodysplasia punctata type 1 |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Rhizomelic chondrodysplasia punctata type 2 |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Rhizomelic chondrodysplasia punctata type 3 |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Osteoporose efter stråling |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
1 |
Stickler syndrome type 1 |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
2 |
Stickler syndrome type 2 |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
2 |
Stickler syndrome type 4 (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
2 |
Late congenital syphilitic osteochondropathy |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Metastatic squamous cell carcinoma to bone (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Benign osteogenic neoplasm of bone |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Osteonecrosis caused by alcohol |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Osteonecrosis due to acquired red cell aplasia |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Normal bone age |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
2 |
Osteonecrosis caused by glucocorticoid |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Advanced bone age |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Delayed bone age |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Floating-Harbour syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
4 |
Bone age finding (finding) |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
5 |
Anatomic location directly invaded by primary malignant neoplasm of bone |
This attribute specifies the location of the entity specified by the attribute "Inheres in". |
False |
Bone structure |
Inferred relationship |
Some |
6 |
Paraneoplastic hypertrophic osteoarthropathy (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
2 |
Postinfectious osteopathy |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
2 |
Osteolysis due to and following traumatic injury (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Secondary osteolysis (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Primary chondrosarcoma of bone (disorder) |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
Presence of primary malignant neoplasm of bone at surgical margin in excised tissue specimen |
This attribute specifies the location of the entity specified by the attribute "Inheres in". |
False |
Bone structure |
Inferred relationship |
Some |
7 |
Coccidioidomycosis of bone |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
A rare primary bone dysplasia characterised by reduced bone mineral density (defined as a Z score below -2.0), vertebral compression fractures, and recurrent peripheral fractures caused by low-impact trauma, leading to bone pain and impaired mobility. Patients typically become symptomatic in childhood or adolescence. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Onlay cortical autograft of bone |
Procedure site - Indirect (attribute) |
False |
Bone structure |
Inferred relationship |
Some |
2 |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by early-onset progressive bone marrow failure with anemia, leukopenia, mild thrombopenia, and myelodysplastic features, as well as non-hematologic manifestations, such as developmental delay, cataracts, facial dysmorphism, short stature, and skeletal anomalies. Immunodeficiency primarily affects B-cells and may lead to increased susceptibility to infections. Additional reported features include dry skin and eczema, cardiac anomalies, hearing loss, and reduction of cerebral volume on brain imaging. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
2 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of developmental delay, variable intellectual disability, skeletal dysplasia, and in many cases T-cell immunodeficiency and other immunologic abnormalities. Skeletal findings include short stature, anomalies of the long bones, hands and feet, and pelvis, platyspondyly, cervical malformation, and pectus excavatum. Dysmorphic facial features, such as coarse face, hypertelorism, and broad nasal tip, may be present. Additional reported manifestations are seizures, hyperreflexia, nystagmus, and muscular hypotonia, as well as multiple liver cysts. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Osteotomy and internal fixation |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Trapezoidal osteotomy (procedure) |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
2 |
Trapezoidal osteotomy (procedure) |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
3 |
Tarsometatarsal arthrodesis, transverse, with osteotomy as for flatfoot correction |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
3 |
Rotational osteotomy |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
2 |
Repair of fracture with osteotomy and correction of alignment |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
3 |
Repair of fracture with osteotomy and correction of alignment with internal fixation device |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
4 |
Repair of fracture with osteotomy and correction of alignment with intramedullary rod |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
3 |
Dome osteotomy (procedure) |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
2 |
En bloc osteotomy (procedure) |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
2 |
Osteomyelitis caused by Salmonella enterica enterica serovar Typhi (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Application of bone xenograft |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Bone graft |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Insertion of bone peg in femoral neck |
Procedure site - Direct (attribute) |
False |
Bone structure |
Inferred relationship |
Some |
3 |
Lengthening of bone with bone graft |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Allogeneic bone graft |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Inlay cortical autograft of bone |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Cancellous strip autograft of bone (procedure) |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Cancellous chip autograft of bone |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Autogenous corticocancellous bone graft |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Autogenous bone strut |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Autogenous vascularized bone graft |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Onlay cortical autograft of bone |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Bone graft with bone chips |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Bone graft with metallic fixation |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Autograft of bone |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Grafting of bone using bulk allograft |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Grafting of bone using cancellous chip allograft |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Bone tendon autograft (procedure) |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
2 |
Grafting of bone using autogenous vascularized pedicle graft (procedure) |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Conversion to fusion of joint with articular bone graft (procedure) |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
2 |
Fusion of joint with extraarticular bone graft |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
2 |
Curettage of lesion of bone and grafting of bone (procedure) |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
2 |
Autogenous cortical bone graft (procedure) |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Autogenous cancellous bone graft (procedure) |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Translational osteotomy (procedure) |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
2 |
Fusion of joint with articular bone graft |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
2 |
Bone graft with metallic fixation |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
2 |
Curettage of lesion of bone and grafting of bone (procedure) |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Free osteocutaneous flap with microvascular anastomosis of rib |
Procedure site - Direct (attribute) |
False |
Bone structure |
Inferred relationship |
Some |
2 |
Fusion of joint with bone graft |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
2 |
A rare genetic disease characterized by early-onset respiratory difficulties and frequent respiratory infections, congenital heart defects, dysostosis multiplex, hepatosplenomegaly, renal involvement, hematopoietic abnormalities, facial dysmorphism (coarse facial features, large forehead, synophrys, long eyelashes, broad nasal bridge, macroglossia, short neck, and low hairline), and global developmental delay. Laboratory examination shows increased urinary excretion of glycosaminoglycans and increased plasma heparan sulfate, but no lysosomal enzyme deficiency. The disease is usually fatal in the first years of life. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
A rare genetic, multiple congenital anomalies syndrome characterized by short stature, hand brachydactyly with hypoplastic distal phalanges, global development delay, intellectual disability, and more variably seizures, obesity, and craniofacial dysmorphism that includes microcephaly, high forehead, flat face, hypertelorism, deep set eyes, flat nasal bridge, averted nostrils, long philtrum, thin lip vermilion, and short neck. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
2 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and intellectual disability, progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, and dysmorphic craniofacial features (including microcephaly, hypertelorism, epicanthal folds, mild ptosis, strabismus, malar hypoplasia, short nose, depressed nasal bridge, full lips, small, low-set ears, and short neck). Craniosynostosis, generalized hypotonia, as well as asymmetry of the cerebral hemispheres and mild thinning of the corpus callosum on brain imaging have also been described. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
2 |
Sarcoma of bone and connective tissue |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
2 |
Bone tendon autograft (procedure) |
Procedure site - Direct (attribute) |
False |
Bone structure |
Inferred relationship |
Some |
1 |
Grafting of bone using synthetic graft (procedure) |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Osteogenesis imperfecta type IIC presents with varying thickness of the ribs, discontinuous beading of the ribs, malformed scapula and ischia, and long bones with thin shafts and expanded metaphyses. Type IIC is extremely rare. Appearances have been reported in fetuses with mutations in the MESD gene (15q25). The disease is either autosomal dominant or autosomal recessive depending on the gene involved. Autosomal dominant cases occur either sporadically or due to germline mosaicism. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
2 |
A rare genetic disease characterised by infantile or childhood onset of abnormal growth of hyalinised fibrous tissue, giving rise to multiple cutaneous nodules and/or pearly papules predominantly affecting the scalp, ears, neck, face, hands, and feet. Involvement of other organs results in gingival hyperplasia, osteolytic bone lesions, and joint contractures. Some patients exhibit visceral involvement with intractable diarrhoea, increased susceptibility to infections, and severe failure to thrive. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
A rare genetic disease characterised by infantile or childhood onset of abnormal growth of hyalinised fibrous tissue, giving rise to multiple cutaneous nodules and/or pearly papules predominantly affecting the scalp, ears, neck, face, hands, and feet. Involvement of other organs results in gingival hyperplasia, osteolytic bone lesions, and joint contractures. Some patients exhibit visceral involvement with intractable diarrhoea, increased susceptibility to infections, and severe failure to thrive. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
2 |
A rare hyaline fibromatosis syndrome with characteristics of papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occurring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
3 |
A very rare disorder belonging to the heterogeneous group of genetic fibromatoses and with characteristics of progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid and adrenal glands. Caused by mutations in anthrax toxin receptor 2 gene (ANTRX2) on chromosome 4q21. Transmitted as an autosomal recessive trait. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
4 |
A very rare disorder belonging to the heterogeneous group of genetic fibromatoses and with characteristics of progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid and adrenal glands. Caused by mutations in anthrax toxin receptor 2 gene (ANTRX2) on chromosome 4q21. Transmitted as an autosomal recessive trait. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
2 |
A rare, primary bone dysplasia characterised by proportional short stature, early cessation of bone growth, accelerated skeletal maturation, variable presence of early-onset osteoarthritis and osteochondritis dissecans, and normal endocrine evaluation. The variable dysmorphic features include mild to relative macrocephaly, frontal bossing, midfacial hypoplasia, flat nasal bridge, brachydactyly, broad thumbs, and lordosis. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Structure of transplanted bone (body structure) |
Is a |
True |
Bone structure |
Inferred relationship |
Some |
|
Vascularised bone graft with microsurgery |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Vascularised bone graft with microsurgery |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
2 |
Modified Widman flap with osseous surgery |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
2 |
Apically repositioned periodontal flap with osseous surgery |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
1 |
Replacement of periodontal flap with osseous surgery (procedure) |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
1 |