Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Other dislocation or subluxation due to birth trauma |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Skeletal survey - arthritis |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Skeletal survey - acromegaly |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Skeletal survey - pediatric - trauma |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Skeletal survey - dialysis follow-up |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Skeletal survey - pediatric - bone age over 16 |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Skeletal injury NOS - birth |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Skeletal injury due to birth trauma (disorder) |
Finding site |
True |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Skeletal survey of fetus |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
examen radiologique du squelette pour myélome multiple |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Skeletal survey - pediatric |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Skeletal survey - pediatric - bone age under 16 |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Skeletal survey - pediatric - dysplasia |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Skeletal survey - adult |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Skeletal survey - dialysis |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Skeletal survey - metabolic |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Skeletal survey - metastatic |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Skeletal survey - Paget's |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Skeletal survey of fetus |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Skeletal survey - peripheral |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Neoplasm of skeletal system (disorder) |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Radiologic examination, osseous survey, complete |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Skeletal survey - pediatric - bone age under 16 |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Insertion of bone pin with skeletal traction (procedure) |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Skeletal survey - metastatic |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Skeletal survey - metabolic |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Skeletal survey - arthritis |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Skeletal survey - Paget's |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Skeletal survey - dialysis |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Skeletal survey - pediatric - dysplasia |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Skeletal survey - pediatric - trauma |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Skeletal survey - adult |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Skeletal survey - dialysis follow-up |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Skeletal survey - pediatric |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Skeletal survey - pediatric - bone age over 16 |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Skeletal survey - acromegaly |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
examen radiologique du squelette pour myélome multiple |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Overlapping malignant neoplasm of bone and articular cartilage |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Malignant neoplasm of skeletal system (disorder) |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Diaphyseal medullary stenosis with bone malignancy (disorder) |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Neoplasm of uncertain behaviour of skeletal system |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Diaphyseal medullary stenosis with bone malignancy (disorder) |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Neoplasm of skeletal system (disorder) |
Finding site |
True |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Overlapping malignant neoplasm of bone and articular cartilage |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Malignant neoplasm of skeletal system (disorder) |
Finding site |
True |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Neoplasm of uncertain behaviour of skeletal system |
Finding site |
True |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Insertion of bone pin with skeletal traction (procedure) |
Procedure site - Direct (attribute) |
True |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Closed reduction of traumatic injury of epiphyseal plate and skeletal traction (procedure) |
Procedure site - Direct (attribute) |
True |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Primary closed reduction of traumatic dislocation of joint and skeletal traction (procedure) |
Procedure site - Direct (attribute) |
True |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
radiologie postmortem du squelette |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Postmortem skeletal survey using radiographic imaging |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Patellapexy |
Procedure site - Direct (attribute) |
True |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
réparation par enclouage |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Fixation of hip |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Skeletal fixation procedure (procedure) |
Procedure site - Direct (attribute) |
True |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Percutaneous skeletal fixation of dislocation of inferior radioulnar joint structure (procedure) |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Percutaneous skeletal fixation of dislocation of interphalangeal joint of foot with manipulation (procedure) |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Percutaneous skeletal fixation of dislocation of carpometacarpal joint with manipulation (procedure) |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Percutaneous skeletal fixation of dislocation of interphalangeal joint with manipulation (procedure) |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Percutaneous skeletal fixation of dislocation of metacarpophalangeal joint with manipulation (procedure) |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Percutaneous skeletal fixation of dislocation of metatarsophalangeal joint with manipulation (procedure) |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Percutaneous skeletal fixation of dislocation of talocalcaneonavicular joint with manipulation (procedure) |
Procedure site - Direct (attribute) |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Cartilage structure (body structure) |
Is a |
True |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Disseminated idiopathic skeletal hyperostosis |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Articular system structure |
Is a |
True |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hyperphosphatasemia with bone disease |
Finding site |
True |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Axial osteosclerosis |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
3-M syndrome |
Finding site |
True |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Tarsal-carpal coalition syndrome |
Finding site |
True |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteodysplastic dysplasia, type II |
Finding site |
True |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Achondrogenesis, type IB |
Finding site |
True |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder) |
Finding site |
True |
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) |
3 |
Brachyolmia (disorder) |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Achondrogenesis |
Finding site |
True |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Mixed sclerosing bone dysplasia (disorder) |
Finding site |
True |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteoplastic dysplasia |
Finding site |
True |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Melorheostosis |
Finding site |
True |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Diaphyseal medullary stenosis with bone malignancy (disorder) |
Finding site |
True |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Achondroplasia |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Osteodysplastic dysplasia, type I (disorder) |
Finding site |
True |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Achondrogenesis, type IA |
Finding site |
True |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
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 |
True |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Infantile cortical hyperostosis |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Atelosteogenesis/diastrophic dysplasia |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Mesomelic dysplasia Savarirayan type (disorder) |
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) |
2 |
Robinow syndrome |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Reinhardt Pfeiffer mesomelic dysplasia |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive. |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Mixed sclerosing bone dystrophy with extra-skeletal manifestation |
Finding site |
True |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Spondylometaphyseal dysplasia |
Finding site |
True |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Severe achondrolasia with developmental delay and acanthosis nigricans |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
An extremely rare genetic multisystemic disorder with characteristics of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia, which may be accompanied by neutrophilic dermatosis. The disease can be associated with fever, joint pain, delayed bone age, growth failure, short adult stature, and development of flexion contractures. Other reported manifestations include failure to thrive, hepatomegaly, neutropenia, and transient cholestatic jaundice. The clinical course is chronic. Caused by a mutation in LPIN2 (18p11.31), which encodes phosphatidate phosphatase LPIN2 (Lipin-2), important in lipid metabolism. Follows an autosomal recessive pattern of inheritance. |
Finding site |
True |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Reunion Island Larsen-like syndrome |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Brachyolmia - Maroteaux type (disorder) |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterised by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood. |
Finding site |
False |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
An exceedingly rare, autosomal recessive immune disease characterised by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. |
Finding site |
True |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Osteopetrosis hypogammaglobulinemia syndrome (disorder) |
Finding site |
True |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Marshall-Smith syndrome |
Finding site |
True |
Skeletal system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |