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39352004: Joint structure (body structure)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
65982019 Joint en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
492047015 Joint structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
492048013 Joint types en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
775788019 Joint structure (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3781 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Joint structure Is a Articular system structure true Inferred relationship Some
Joint structure Is a Bone and/or joint structure (body structure) false Inferred relationship Some
Joint structure Part of Entire articular system false Additional relationship Some
Joint structure Is a An anatomical structure that consists of the maximal set of organ parts so connected to one another that together they constitute a self-contained unit of macroscopic anatomy, distinct both morphologically and functionally from other such units. Together with other organs, an organ constitutes an organ system or a body part. An organ is divisible into organ parts but not organs (examples: femur, biceps, liver, heart, aorta, sciatic nerve, ovary). true Inferred relationship Some
Joint structure Is a Bone and/or joint structure (body structure) true Inferred relationship Some
Joint structure Is a Structure of joint region true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Arthritis caused by Streptococcus (disorder) Finding site False Joint structure Inferred relationship Some 3
Gonococcal spondylitis Finding site False Joint structure Inferred relationship Some 4
Open reduction of dislocation with internal fixation Procedure site - Direct (attribute) True Joint structure Inferred relationship Some 3
Arthritis caused by Spirochaetales Finding site False Joint structure Inferred relationship Some 2
Rheumatoid arthritis with pneumoconiosis Finding site True Joint structure Inferred relationship Some 5
Haemophilus influenzae arthritis Finding site False Joint structure Inferred relationship Some 3
Primary open reduction of dislocation and functional bracing Procedure site - Direct (attribute) True Joint structure Inferred relationship Some 3
Intermittent effusion of joint (disorder) Finding site True Joint structure Inferred relationship Some 1
Transient arthritis (disorder) Finding site True Joint structure Inferred relationship Some 2
Psoriatic arthritis Finding site False Joint structure Inferred relationship Some
Gonococcal infection of joint Finding site False Joint structure Inferred relationship Some 2
Open reduction of dislocation with external fixation Procedure site - Direct (attribute) True Joint structure Inferred relationship Some 3
Infective arthritis of shoulder region (disorder) Finding site False Joint structure Inferred relationship Some 2
Infective arthritis of joint of hand (disorder) Finding site False Joint structure Inferred relationship Some 2
Acute infective arthritis Finding site False Joint structure Inferred relationship Some 2
Viral arthritis of knee Finding site False Joint structure Inferred relationship Some 2
Infective arthritis of pelvis (disorder) Finding site False Joint structure Inferred relationship Some 2
Bacterial arthritis Finding site False Joint structure Inferred relationship Some 2
Infective arthritis of ankle and/or foot (disorder) Finding site False Joint structure Inferred relationship Some 2
Staphylococcal arthritis and polyarthritis Finding site False Joint structure Inferred relationship Some 2
Pneumococcal arthritis and polyarthritis Finding site False Joint structure Inferred relationship Some 2
Tuberculous synovitis Finding site False Joint structure Inferred relationship Some 2
Viral arthritis Finding site False Joint structure Inferred relationship Some 2
Infective arthritis of first metatarsophalangeal joint Finding site False Joint structure Inferred relationship Some 2
Fungal arthritis (disorder) Finding site False Joint structure Inferred relationship Some 2
Suppurative arthritis caused by fungus Finding site False Joint structure Inferred relationship Some 2
Mycoplasma arthritis Finding site False Joint structure Inferred relationship Some 2
Rubella arthritis Finding site True Joint structure Inferred relationship Some 2
Infective arthritis of proximal interphalangeal joint of finger Finding site False Joint structure Inferred relationship Some 2
Tuberculosis of knee Finding site False Joint structure Inferred relationship Some 2
Pneumococcal arthritis Finding site False Joint structure Inferred relationship Some 2
Enterobacterial spondylitis Finding site False Joint structure Inferred relationship Some 3
Mumps arthritis Finding site False Joint structure Inferred relationship Some 2
Infective arthritis of metatarsophalangeal joint of lesser toe Finding site False Joint structure Inferred relationship Some 2
Viral arthritis of hand Finding site False Joint structure Inferred relationship Some 2
Subacute infective polyarthritis Finding site False Joint structure Inferred relationship Some 2
Infective arthritis of interphalangeal joint of toe Finding site False Joint structure Inferred relationship Some 2
Acute suppurative arthritis (disorder) Finding site False Joint structure Inferred relationship Some 2
Infective arthritis of distal interphalangeal joint of finger Finding site False Joint structure Inferred relationship Some 2
Infective arthritis with acquired immunodeficiency syndrome (disorder) Finding site True Joint structure Inferred relationship Some 2
Chronic infective polyarthritis Finding site False Joint structure Inferred relationship Some 2
Chronic infective arthritis Finding site False Joint structure Inferred relationship Some 2
Suppurative arthritis caused by bacteria (disorder) Finding site False Joint structure Inferred relationship Some 2
Polyarthritis caused by Erysipelothrix rhusiopathiae Finding site False Joint structure Inferred relationship Some 2
Subacute infective arthritis Finding site True Joint structure Inferred relationship Some 2
Infective arthritis of elbow (disorder) Finding site False Joint structure Inferred relationship Some 2
Tuberculous arthritis Finding site True Joint structure Inferred relationship Some 2
Arthritis caused by Escherichia coli Finding site False Joint structure Inferred relationship Some 2
Rubella arthritis Finding site False Joint structure Inferred relationship Some 4
Salmonella arthritis Finding site False Joint structure Inferred relationship Some 2
Mumps arthritis Finding site False Joint structure Inferred relationship Some 4
Viral arthritis Finding site False Joint structure Inferred relationship Some 3
Suppurative arthritis caused by bacteria (disorder) Finding site True Joint structure Inferred relationship Some 4
Viral arthritis of knee Finding site False Joint structure Inferred relationship Some 4
Arthritis caused by Streptococcus suis Finding site False Joint structure Inferred relationship Some 2
Viral arthritis of hand Finding site False Joint structure Inferred relationship Some 4
Charcot arthropathy due to syphilis (disorder) Finding site True Joint structure Inferred relationship Some 2
Synovial fluid specimen obtained by fine needle aspiration procedure (specimen) Specimen source topography True Joint structure Inferred relationship Some 1
Bacterial arthritis caused by Haemophilus influenzae type b Finding site True Joint structure Inferred relationship Some 1
Psoriatic dactylitis Finding site False Joint structure Inferred relationship Some 4
Chlamydial polyarthritis Finding site False Joint structure Inferred relationship Some 2
Diabetic hand syndrome due to type 2 diabetes mellitus Finding site False Joint structure Inferred relationship Some 2
Congenital calcium pyrophosphate dihydrate crystal deposition disease Finding site False Joint structure Inferred relationship Some 2
Infective arthritis co-occurrent with human immunodeficiency virus infection (disorder) Finding site False Joint structure Inferred relationship Some 3
Viscosupplementation (procedure) Procedure site - Indirect (attribute) True Joint structure Inferred relationship Some 1
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder) Finding site False Joint structure Inferred relationship Some 3
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder) Finding site False Joint structure Inferred relationship Some 4
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 False Joint structure Inferred relationship Some 1
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 False Joint structure Inferred relationship Some 1
Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies. Finding site False Joint structure Inferred relationship Some 1
Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contractures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported. Finding site False Joint structure Inferred relationship Some 1
Identified in Israeli Bedouin kindred the phenotype is similar to that of Lethal congenital contracture syndrome type 2 but without distended bladder. Affected individuals are born with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs. Finding site False Joint structure Inferred relationship Some 1
A rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern KwaZulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short stature and brachydactyly have been reported in a few patients with MJD. Finding site True Joint structure Inferred relationship Some 1
Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal. Finding site False Joint structure Inferred relationship Some 4
Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterized by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit. Finding site False Joint structure Inferred relationship Some 4
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) Finding site False Joint structure Inferred relationship Some 5
Reactive arthritis co-occurrent and due to nonspecific urethritis Finding site False Joint structure Inferred relationship Some 6
Viral arthritis co-occurrent with hepatitis Finding site False Joint structure Inferred relationship Some 2
A rare ectodermal dysplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia. Finding site False Joint structure Inferred relationship Some 9
A form of arthrogryposis characterized by contractures of the distal regions of the hands and feet in the absence of a primary neurological and/or muscle disease affecting limb function. Facial involvement is limited to a small mouth and impaired mouth opening. No additional anomalies are reported. Finding site False Joint structure Inferred relationship Some 1
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 False Joint structure Inferred relationship Some 2
Rheumatoid lung disease with rheumatoid arthritis Finding site False Joint structure Inferred relationship Some 3
Joint movement NAD Finding site False Joint structure Inferred relationship Some 1
Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints. Finding site True Joint structure Inferred relationship Some 2
A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline). Finding site False Joint structure Inferred relationship Some 5
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 False Joint structure Inferred relationship Some 11
An extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988. Finding site False Joint structure Inferred relationship Some 4
A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. Muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure. Finding site False Joint structure Inferred relationship Some 3
A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. Muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure. Finding site False Joint structure Inferred relationship Some 4
Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features. Finding site False Joint structure Inferred relationship Some 4
Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features. Finding site False Joint structure Inferred relationship Some 5
A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (myopathic stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, microgenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983. Finding site False Joint structure Inferred relationship Some 4
An extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence. Finding site False Joint structure Inferred relationship Some 5
A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (myopathic stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, microgenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983. Finding site False Joint structure Inferred relationship Some 7
A rare, multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity. Finding site False Joint structure Inferred relationship Some 4
An extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence. Finding site False Joint structure Inferred relationship Some 4
A rare systemic disease characterized by congenital multiple contractures, characteristic craniofacial features (like large fontanel, hypertelorism, downslanting palpebral fissures, blue sclerae, ear deformities, high palate) evident at birth or in early infancy, and characteristic cutaneous features like skin hyperextensibility, skin fragility with atrophic scars, easy bruising, and increased palmar wrinkling. Additional features include recurrent/chronic dislocations, chest and spinal deformities, peculiarly shaped fingers, colonic diverticula, pneumothorax, and urogenital and ophthalmological abnormalities, among others. Molecular testing is obligatory to confirm the diagnosis. Finding site False Joint structure Inferred relationship Some 6
Chronic primary gouty arthritis (disorder) Finding site True Joint structure Inferred relationship Some 3
A rare genetic disease characterized by infantile onset of recurrent skin ulcerations, arthralgias, fever, peri-articular fistulous osteolysis, oligodontia, nail dystrophy, and keratitis. The disease takes a self-limiting course in childhood but results in severe cicatrization, chronic arthroses, pseudoacromegalic appearance of hands and feet, secondary scoliosis, and visual impairment. There have been no further descriptions in the literature since 1983. Finding site False Joint structure Inferred relationship Some 5
Arthritis co-occurrent and due to Crohn's disease (disorder) Finding site False Joint structure Inferred relationship Some 3
Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures and intellectual disability. Finding site False Joint structure Inferred relationship Some 4

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Anatomy structure and part association reference set (foundation metadata concept)

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