| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Polyarticular psoriatic arthritis |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Early onset polyarticular juvenile chronic arthritis |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Reactive arthritis of multiple sites due to and following sexually transmitted disease (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Transient arthropathy of multiple sites |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Severe myopia, generalized joint laxity, short stature syndrome |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Spondyloepiphyseal dysplasia Stanescu type |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Lipoid dermatoarthritis |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Reactive arthritis of joint of multiple sites due to and following dysentery |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Generalized osteoarthritis (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Osteoarthrosis involving multiple sites but not designated as generalized |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Oligoosteoarthritis (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Osteoarthritis of multiple joints (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Multiple stiff joints (finding) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Multiple clicking joints |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Instability of multiple joints |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Ankylosis of joint of multiple sites |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Diastrophic dysplasia |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Freeman-Sheldon syndrome |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Hecht syndrome |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Congenital contractural arachnodactyly |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Congenital muscular dystrophy with arthrogryposis multiplex congenita |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Inherited arthrogryposis |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Familial arthrogryposis-cholestatic hepatorenal syndrome |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Pena-Shokeir syndrome type I (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Marden Walker syndrome (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Kuskokwim syndrome |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Lethal congenital contracture syndrome type 5 |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| X-linked lethal multiple pterygium syndrome (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
| Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Hypomyelination neuropathy arthrogryposis syndrome (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| A rare genetic lethal non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed. There is evidence this disease is caused by homozygous mutation in the CNTN1 gene on chromosome 12q12. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Distal arthrogryposis type 5D (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
11 |
| Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| X-linked distal arthrogryposis multiplex congenita (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Adducted thumbs and arthrogryposis syndrome Christian type (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Arthrogryposis multiplex congenita and whistling face syndrome (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| A rare syndrome characterised by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Ehlers-Danlos syndrome musculocontractural type (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Intellectual disability, developmental delay, contracture syndrome |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Arthrogryposis hyperkeratosis syndrome lethal form |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and carp-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| An inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophthalmoplegia and/or strabismus). Intelligence is normal. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Digitotalar dysmorphism |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Lethal congenital contracture syndrome type 1 (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Lethal congenital contracture syndrome type 2 |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Lethal congenital contracture syndrome type 3 (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Distal arthrogryposis type 4 (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Arthrogryposis |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Autosomal dominant multiple pterygium syndrome (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Pelvic dysplasia, arthrogryposis of lower limbs syndrome (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Arthrogryposis and ectodermal dysplasia syndrome (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
| Congenital arthrogryposis caused by teratogen (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Distal arthrogryposis type 3 (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Prenatal-onset spinal muscular atrophy with congenital bone fractures |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| NIMA related kinase 9 lethal skeletal dysplasia (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Distal arthrogryposis type 10 |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Antenatal multi-minicore disease with arthrogryposis multiplex congenita |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Congenital amyoplasia |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
11 |
| Camptobrachydactyly (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Spondyloepiphyseal dysplasia Stanescu type |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Microphthalmia, microtia, fetal akinesia syndrome |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
| Myopathic Ehlers-Danlos syndrome (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
| Congenital pontocerebellar hypoplasia type 12 |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
| Gouty arthritis of multiple sites |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Alkuraya Kucinskas syndrome |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Flexion contracture of proximal interphalangeal joints of index finger and middle finger and ring finger and little finger (disorder) |
Finding site |
True |
Joint structure of multiple body sites (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
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