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785818007: Structure of joint region (body structure)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3768577019 Structure of joint region en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3768578012 Structure of joint region (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5770 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Structure of joint region Is a Body region structure true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Familial normophosphatemic tumoral calcinosis Finding site False Structure of joint region Inferred relationship Some 2
Tumoral calcinosis Finding site False Structure of joint region Inferred relationship Some 2
Hyperphosphataemic familial tumoural calcinosis Finding site False Structure of joint region Inferred relationship Some 2
A rare genetic motor neuron disease characterized by decreased or absent fetal movements, congenital proximal and distal joint contractures (consistent with arthrogryposis multiplex congenita), and multiple congenital fractures of the long bones. Further manifestations are neonatal respiratory distress, severe muscular hypotonia, areflexia, dysphagia, congenital heart defects, and dysmorphic facial features. Muscle biopsy shows increased fiber-size variation and grouping of larger type I fibers. The disease is usually fatal in infancy due to respiratory failure. Finding site True Structure of joint region Inferred relationship Some 1
NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short, bowed femurs may also be associated. Finding site True Structure of joint region Inferred relationship Some 2
A rare spondyloepiphyseal dysplasia characterized by progressive joint contractures with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Patients are of normal height and present with gait problems, joint pain, and enlarged joints with joint restriction and contractures. Radiological features include generalized platyspondyly, hypoplastic ilia, epiphyseal flattening with metaphyseal splaying of the tubular bones, and broad, elongated femoral necks with marked coxa valga. Histopathologic examination of cartilage shows PAS-positive cytoplasmic inclusion bodies in chondrocytes. Finding site False Structure of joint region Inferred relationship Some 3
A rare arthrogryposis syndrome characterized by arthrogryposis multiplex congenita with contractures involving multiple joints of the upper and lower limbs, camptodactyly of fingers and toes, skeletal abnormalities such as scoliosis and pectus excavatum, as well as variable speech and motor delay and hypotonia. Facial dysmorphism includes long eyelashes, periorbital fullness, ptosis, epicanthal folds, high arched/cleft palate, and micrognathia. Finding site True Structure of joint region Inferred relationship Some 2
A rare systemic disease characterized by congenital muscle hypotonia and/or muscle atrophy that improves with age, proximal joint contractures (knee, hip, elbow), and hypermobility of distal joints. Additional features include soft, doughy skin, atrophic scarring, delayed motor development, and myopathic findings in muscle biopsy. Abnormal craniofacial features have been reported in some patients. Molecular testing is obligatory to confirm the diagnosis. Finding site False Structure of joint region Inferred relationship Some 4
Antenatal multi-minicore disease with arthrogryposis multiplex congenita Finding site True Structure of joint region Inferred relationship Some 2
Diastrophic dysplasia Finding site False Structure of joint region Inferred relationship Some 3
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 Structure of joint region Inferred relationship Some 1
Pena-Shokeir syndrome type I (disorder) Finding site True Structure of joint region Inferred relationship Some 1
Marden Walker syndrome Finding site True Structure of joint region Inferred relationship Some 2
A rare lethal multiple congenital anomalies/dysmorphic syndrome characterized by the association of fetal akinesia sequence, bilateral microphthalmia, microtia, and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported. Finding site True Structure of joint region Inferred relationship Some 6
Hecht syndrome Finding site True Structure of joint region Inferred relationship Some 1
dystrophie musculaire congénitale associée à une arthrogrypose congénitale multiple Finding site True Structure of joint region Inferred relationship Some 4
A rare sporadic arthrogryposis syndrome with characteristics of multiple congenital contractures presenting in a very specific pattern. It is typically symmetric, involving all four limbs, with internally rotated shoulders, fully extended and fixed elbows, the wrists fixed in flexion, partially flexed fingers, hips fixed in flexion or extension, adducted or abducted and sometimes dislocated. The knees may be fixed in extension or flexion and the feet are usually in severe equinovarus position. The jaw and trunk are relatively spared. Normal limb muscle tissue is replaced by fatty, fibrous tissue. Finding site True Structure of joint region Inferred relationship Some 1
Familial normophosphatemic tumoral calcinosis Finding site True Structure of joint region Inferred relationship Some 1
Tumoral calcinosis Finding site True Structure of joint region Inferred relationship Some 1
Hyperphosphataemic familial tumoural calcinosis Finding site True Structure of joint region Inferred relationship Some 1
A lethal form of pontocerebellar hypoplasia with characteristics of prenatal onset of microcephaly, hypoplasia of the cerebellum, brainstem, and spinal cord, dysmorphic craniofacial features such as sloping forehead and micrognathia, and multiple contractures. Supratentorial atrophy has also been reported. Finding site True Structure of joint region Inferred relationship Some 5
Progressive flexion contracture of joint (disorder) Finding site True Structure of joint region Inferred relationship Some 1

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Reference Sets

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

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