Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Rhizomelic chondrodysplasia punctata syndrome |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Closed reduction of separated epiphysis of femur (procedure) |
Procedure site |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Epiphysiodesis NEC |
Procedure site - Direct (attribute) |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Separated epiphysis - closed reduction |
Procedure site |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Open reduction of injury to growth plate and internal fixation however further qualified |
Procedure site - Direct (attribute) |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Other specified fixation of epiphysis |
Procedure site - Direct (attribute) |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Arrest of bone growth of ulna |
Procedure site - Direct (attribute) |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Operation on epiphysis of bone |
Procedure site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Juvenile epiphysitis |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
épiphysite syphilitique congénitale |
Finding site |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Open reduction of separation of epiphysis |
Procedure site - Direct (attribute) |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Open reduction of injury to growth plate and internal fixation however further qualified |
Procedure site |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Primary reduction of injury to growth plate NOS |
Procedure site |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Excision of epiphyseal bar with autogenous soft tissue graft (procedure) |
Procedure site - Direct (attribute) |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Excision of epiphyseal bar (procedure) |
Procedure site - Direct (attribute) |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Achondroplasia |
Finding site |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Closed reduction of injury to growth plate and traction however further qualified |
Procedure site - Direct (attribute) |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Open reduction of injury to growth plate NEC |
Procedure site - Direct (attribute) |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Closed reduction of injury to growth plate NEC |
Procedure site - Direct (attribute) |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Open reduction of injury to growth plate and internal fixation however further qualified |
Procedure site - Direct (attribute) |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Closed reduction of injury to growth plate and internal fixation however further qualified |
Procedure site - Direct (attribute) |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Open reduction of injury to growth plate and traction however further qualified |
Procedure site - Direct (attribute) |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Separated epiphysis - closed reduction |
Procedure site - Direct (attribute) |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Open reduction of separation of epiphysis |
Procedure site - Direct (attribute) |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Excision of epiphyseal bar (procedure) |
Procedure site - Direct (attribute) |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Excision of epiphyseal bar with autogenous soft tissue graft (procedure) |
Procedure site - Direct (attribute) |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Severe achondrolasia with developmental delay and acanthosis nigricans |
Finding site |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Severe achondrolasia with developmental delay and acanthosis nigricans |
Finding site |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Achondroplasia |
Finding site |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Multiple epiphyseal dysplasia |
Finding site |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Wolcott-Rallison dysplasia |
Finding site |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Multiple epiphyseal dysplasia tarda type IIIa |
Finding site |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Temporary fixation epiphysis (procedure) |
Procedure site - Direct (attribute) |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Pelvis juvenile osteochondropathy (disorder) |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Juvenile osteochondritis of the hip and pelvis (disorder) |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Multiple epiphyseal dysplasia type 4 (disorder) |
Finding site |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Multiple epiphyseal dysplasia type 1 |
Finding site |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Multiple epiphyseal dysplasia type 5 (disorder) |
Finding site |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Eiken syndrome |
Finding site |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Multiple epiphyseal dysplasia type 4 (disorder) |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Multiple epiphyseal dysplasia type 1 |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Multiple epiphyseal dysplasia type 5 (disorder) |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare primary bone dysplasia characterized by the association of multiple epiphyseal dysplasia with macrocephaly and dysmorphic facial features (such as frontal bossing, hypertelorism, flat malar region, low-set ears, and short neck). Patients are of normal stature and present with joint swelling and genu valgum. Additional reported manifestations include clinodactyly, spindle-shaped fingers, and pectus excavatum. |
Finding site |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Multiple epiphyseal dysplasia Beighton type (disorder) |
Finding site |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hip dysplasia Beukes type (disorder) |
Finding site |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Epiphyseal dysplasia, microcephalus, nystagmus syndrome |
Finding site |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome |
Finding site |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated. |
Finding site |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated. |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Multiple epiphyseal dysplasia due to collagen 9 anomaly (disorder) |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Multiple epiphyseal dysplasia with miniepiphyses (disorder) |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Epiphyseal dysplasia (disorder) |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Multiple epiphyseal dysplasia Lowry type |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare primary bone dysplasia characterized by the association of multiple epiphyseal dysplasia with macrocephaly and dysmorphic facial features (such as frontal bossing, hypertelorism, flat malar region, low-set ears, and short neck). Patients are of normal stature and present with joint swelling and genu valgum. Additional reported manifestations include clinodactyly, spindle-shaped fingers, and pectus excavatum. |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Multiple epiphyseal dysplasia Beighton type (disorder) |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Eiken syndrome |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hip dysplasia Beukes type (disorder) |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Epiphyseal dysplasia, microcephalus, nystagmus syndrome |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome |
Finding site |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Juvenile osteochondrosis of capitulum of humerus (disorder) |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hip juvenile osteochondropathy |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Dysplasia epiphysealis hemimelica (disorder) |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Partial epiphyseal arrest |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Epiphyseal arrest |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Premature epiphyseal closure |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Delayed epiphyseal closure |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
An extremely rare type of severe combined immunodeficiency syndrome (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity. |
Finding site |
False |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder) |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Achondroplasia |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Rhizomelic chondrodysplasia punctata type 1 (disorder) |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Rhizomelic chondrodysplasia punctata type 2 |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Rhizomelic chondrodysplasia punctata type 3 (disorder) |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Juvenile osteochondrosis of lower ulna |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Juvenile osteochondrosis of carpal lunate |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Juvenile osteochondrosis of hand (disorder) |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Juvenile osteochondrosis of upper extremity (disorder) |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Epiphyseal arrest due to kidney disease (disorder) |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Epiphyseal arrest due to disorder of endocrine system |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Post-traumatic epiphyseal arrest |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localised aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed. |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Epiphyseal closure |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Small epiphysis |
Finding site |
True |
Structure of epiphysis |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |