Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Vitamin D-dependent rickets |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Removal of bone fragment of skull |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Some |
|
Ehlers-Danlos' syndrom, recessiv type 4 |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Osteogenesis imperfecta, dominant perinatal lethal |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Vitamin D-dependent rickets, type 2 |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Short rib-polydactyly syndrome, Majewski type |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Exostosis of jaw |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
|
A rare skeletal dysplasia with characteristics of peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible individuals with a male karyotype. The disorder is autosomal dominant; however, most cases are due to heterozygous de novo mutations in the SOX9 gene (localized to 17q24). In rare individuals the disorder is caused by chromosomal recombination (deletion or translocation) involving the region 17q24. |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Mukolipidose IV |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Osteoplasty of vertebrae (procedure) |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Some |
|
Rekonstruerende operation på columna vertebralis |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Some |
|
A rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasia. The disease has characteristics of progressive dwarfism with short trunk, protruding sternum, microcephaly and intellectual disability of varying severity. Caused by mutations of the DYM gene (18q21.1). The large majority of mutations identified in the gene predict a loss of function of its product. DYM is expressed in the majority of tissue and codes for Dymeclin, a protein that interacts with membranes of the Golgi apparatus, but its role within the cell is still unknown. Transmission is autosomal recessive. |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Local excision of bone |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Some |
|
Revision of internal fixation device, broken or displaced |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Some |
|
Arthroscopy of wrist with internal fixation for fracture |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Some |
|
Multiple exostoses syndrome |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Test of the spine |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Some |
|
Spondylometry |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Some |
|
Wind-up test |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Ehlers-Danlos' syndrom, dominant type 4 |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Pyknodysostosis |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Skeletal maturity survey |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Tanner bone age assessment |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Greulich and Pyle bone age assessment |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Lethal Kniest-like syndrome |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Hyperphosphatasemia with bone disease |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Agenesis of multiple metatarsal bones |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
2 |
Defects of the tubular (and flat) bones and/or axial skeleton |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Schneckenbecken dysplasia |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Boomerang dysplasia |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Atelosteogenesis type 2 |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Omodysplasi I |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Omodysplasi II |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Pseudodiastrophic dysplasia |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Otospondylomegaepiphyseal dysplasia |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Achondrogenesis, type II |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Spondylometaphyseal dysplasia - Sutcliffe type |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Spondyloenchondrodysplasia |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Epiphyseal dysplasia |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Chondrodysplasia punctata, X-linked recessive type |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Chondrodysplasia punctata, MT type |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Metaphyseal chondrodysplasia, Spahr type (disorder) |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Metaphyseal anadysplasia |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Brakyraki |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Acromicric dysplasia |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Trichorhinophalangeal dysplasia type I |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Saldino-Mainzer dysplasia |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Cranioectodermal dysplasia |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Dysplasias with significant membranous bone involvement (disorder) |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Multiple dislocations with dysplasia |
Finding site |
True |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Spondyloepimetafyseal dysplasi med løshed i led |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Osteodysplastic primordial dwarfism |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Osteodysplastic primordial dwarfism, type 1 |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Osteodysplastisk primordial dværgvækst, type 2 |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Dysplasia with decreased bone density |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur. |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Geroderma osteodysplastica |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Dysplasia with defective mineralization |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Dysplasia with increased bone density |
Finding site |
True |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Osteosclerosis - Stanescu type |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
A very rare benign bone disorder with characteristics of bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content. The disease may be underdiagnosed due to confusion with autosomal dominant osteopetrosis. The condition is usually found incidentally on radiological examination and is very mild, sometimes accompanied by pain. Increased density of the vertebral plates, pelvis and occasionally of the upper femur have been reported, as well as kyphoscoliosis and femoral cysts. |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Osteomesopyknose |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Osteopathia striata with cranial sclerosis |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Pachydermoperiostosis - familial |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Craniometaphyseal dysplasia - severe type (disorder) |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Craniometaphyseal dysplasia - mild type |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Oculodento-osseous dysplasia |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Oculodento-osseous dysplasia - severe type |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Oculodento-osseous dysplasia - mild type |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Disorganised development of cartilaginous and fibrous components of the skeleton |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Dyskondroplasi |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Osteoglophonic dysplasia |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Fibrøs dysplasi |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Infantile myofibromatosis |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
|
Idiopathic osteolyses |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
1 |
Percutaneous fixation of bone |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Some |
|
Percutaneous fixation using Kirschner wire |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Some |
|
Percutaneous fixation using screw |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Some |
|
Internal fixation using Kirschner wire |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Some |
|
Internal fixation using tension band |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Some |
|
Internal fixation using staple |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Some |
|
Internal fixation using screw |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Some |
|
Internal fixation using plate |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Some |
|
Internal fixation using intramedullary nail |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Some |
|
intern fiksering med internt fiksatorsystem |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Some |
|
External fixation of bone |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Some |
|
External fixation using unilateral bar |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Some |
|
External fixation using static unilateral bar |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Some |
|
External fixation using dynamic unilateral bar |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Some |
|
External fixation using bilateral bars |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Some |
|
External fixation using bilateral bars with cross-linkage |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Some |
|
External fixation using circumferential rings |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Some |
|
Single Kirschner wiring of fracture |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Some |
|
Multiple Kirschner wiring of fracture |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Some |
|
Cerclage wiring of fracture |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Some |
|
Tension band wiring of fracture |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Some |
|
Fenestrectomy |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Some |
2 |
Volar Barton's fracture (disorder) |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
16 |
Dorsal Barton's fracture |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Some |
16 |
Traction lengthening of diaphysis of bone |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Some |
|
Primary open reduction of fragment of bone and fixation using wire system |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Some |
|