Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Vitamin D-dependent rickets |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Removal of bone fragment of skull |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Ehlers-Danlos syndrome, recessive type 4 |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteogenesis imperfecta, dominant perinatal lethal |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Vitamin D-dependent rickets, type 2 (disorder) |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Short rib-polydactyly syndrome, Majewski type |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Exostosis of jaw |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
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 (localised 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 |
Existential restriction modifier (core metadata concept) |
1 |
Ganglioside sialidase deficiency |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteoplasty of vertebrae (procedure) |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Surgical repair of vertebral column |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Dyggve-Melchior-Clausen syndrome |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Local excision of bone (procedure) |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Revision of internal fixation device, broken or displaced |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Arthroscopy of wrist with internal fixation for fracture |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Multiple exostoses syndrome |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Test of the spine |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Spondylometry |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Wind-up test |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ehlers-Danlos syndrome, dominant type 4 |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pyknodysostosis (disorder) |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Skeletal maturity survey |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Tanner bone age assessment |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Greulich and Pyle bone age assessment |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lethal Kniest-like syndrome |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hyperphosphatasemia with bone disease |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Agenesis of multiple metatarsal bones |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Defects of the tubular (and flat) bones and/or axial skeleton |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Schneckenbecken dysplasia |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Boomerang dysplasia |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Atelosteogenesis type 2 |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Omodysplasia I |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Omodysplasia II |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pseudodiastrophic dysplasia (disorder) |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Otospondylomegaepiphyseal dysplasia |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Achondrogenesis, type II (disorder) |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Spondylometaphyseal dysplasia - Sutcliffe type |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Spondyloenchondrodysplasia |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Epiphyseal dysplasia (disorder) |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chondrodysplasia punctata, X-linked recessive type (disorder) |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chondrodysplasia punctata, MT type |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Metaphyseal chondrodysplasia, Spahr type |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Metaphyseal anadysplasia (disorder) |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Brachyrachia (short spine dysplasia) |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acromicric dysplasia |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Trichorhinophalangeal dysplasia type I |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Saldino-Mainzer dysplasia |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cranioectodermal dysplasia |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Dysplasias with significant membranous bone involvement |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Multiple dislocations with dysplasia (disorder) |
Finding site |
True |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Spondyloepimetaphysäre Dysplasie mit Überstreckbarkeit der Gelenke |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteodysplastic primordial dwarfism |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteodysplastic primordial dwarfism, type 1 |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteodysplastic primordial dwarfism, type 2 |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Dysplasia with decreased bone density |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteogenesis imperfecta type IIA |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Geroderma osteodysplastica |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Dysplasia with defective mineralization |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Dysplasia with increased bone density |
Finding site |
True |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteosclerosis - Stanescu type |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Axial osteosclerosis |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteomesopycnosis |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteopathia striata with cranial sclerosis (disorder) |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pachydermoperiostosis - familial |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Craniometaphyseal dysplasia - severe type (disorder) |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Craniometaphyseal dysplasia - mild type |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Oculodento-osseous dysplasia |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Oculodento-osseous dysplasia - severe type |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Oculodento-osseous dysplasia - mild type |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Disorganised development of cartilaginous and fibrous components of the skeleton |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Dyschondroplasia |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteoglophonic dysplasia |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Fibrous dysplasia |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Infantile myofibromatosis |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Idiopathic osteolyses |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Percutaneous fixation of bone |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Percutaneous fixation using Kirschner wire |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Percutaneous fixation using screw |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Internal fixation using Kirschner wire (procedure) |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Internal fixation using tension band |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Internal fixation using staple (procedure) |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Internal fixation using screw (procedure) |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Internal fixation using plate |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Internal fixation using intramedullary nail |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
fixation interne avec système de fixation interne |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
External fixation of bone (procedure) |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
External fixation using unilateral bar |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
External fixation using static unilateral bar |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
External fixation using dynamic unilateral bar |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
External fixation using bilateral bars (procedure) |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
External fixation using bilateral bars with cross-linkage |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
External fixation using circumferential rings |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Single Kirschner wiring of fracture |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Multiple Kirschner wiring of fracture |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Cerclage wiring of fracture |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Tension band wiring of fracture |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Fenestrectomy (procedure) |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Volar Barton's fracture |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
16 |
Dorsal Barton's fracture |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
16 |
Traction lengthening of diaphysis of bone (procedure) |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Primary open reduction of fragment of bone and fixation using wire system |
Procedure site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|