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57048009: Contracture (morphologic abnormality)

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
94877013 Contracture en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
795627011 Contracture (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Contracture Is a Fibrosis AND/OR repair abnormality true Inferred relationship Some
Contracture Is a Abnormal shortening true Inferred relationship Some
Contracture Is a Mechanical lesion false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Lethal tight skin contracture syndrome (disorder) Associated morphology True Contracture Inferred relationship Some 1
Joint contracture of the ankle and foot Associated morphology True Contracture Inferred relationship Some 2
Joint contracture of the ankle and foot Associated morphology True Contracture Inferred relationship Some 1
Contracture of joint following injury (disorder) Associated morphology True Contracture Inferred relationship Some 1
Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported. Associated morphology True Contracture Inferred relationship Some 7
A form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. Associated morphology True Contracture Inferred relationship Some 1
Congenital contractural arachnodactyly Associated morphology True Contracture Inferred relationship Some 1
A rare, transient paroxysmal dystonia characterized by onset of recurrent episodes of torticollis posturing of the head between infancy and early-childhood. Associated morphology True Contracture Inferred relationship Some 1
Posterior release of joints of foot for correction of congenital deformity of foot Direct morphology True Contracture Inferred relationship Some 1
Contracture of muscle of right shoulder region (disorder) Associated morphology True Contracture Inferred relationship Some 1
Bilateral muscle contracture of ankle regions Associated morphology True Contracture Inferred relationship Some 1
Bilateral muscle contracture of ankle regions Associated morphology True Contracture Inferred relationship Some 2
Contracture of muscle of left shoulder region Associated morphology True Contracture Inferred relationship Some 1
Contracture of muscle of right foot (disorder) Associated morphology True Contracture Inferred relationship Some 1
Contracture of muscle of left foot Associated morphology True Contracture Inferred relationship Some 1
Contracture of muscle of bilateral feet (disorder) Associated morphology True Contracture Inferred relationship Some 1
Contracture of muscle of bilateral feet (disorder) Associated morphology True Contracture Inferred relationship Some 2
Contracture of muscle of right forearm (disorder) Associated morphology True Contracture Inferred relationship Some 1
Contracture of muscle of left forearm (disorder) Associated morphology True Contracture Inferred relationship Some 1
Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition. Associated morphology True Contracture Inferred relationship Some 2
Contracture scar (disorder) Associated morphology True Contracture Inferred relationship Some 2
Contracture scar of skin (disorder) Associated morphology True Contracture Inferred relationship Some 2
Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands. Associated morphology False Contracture Inferred relationship Some 2
Contracture of amputation stump of left lower limb (disorder) Associated morphology True Contracture Inferred relationship Some 1
Contracture of amputation stump of right lower limb (disorder) Associated morphology True Contracture Inferred relationship Some 1
Contracture of amputation stump of left upper limb Associated morphology True Contracture Inferred relationship Some 1
Contracture of amputation stump of right upper limb Associated morphology True Contracture Inferred relationship Some 1
Anterior release of joints of foot for correction of congenital deformity of foot Direct morphology True Contracture Inferred relationship Some 1
Combined posteromedial and posterolateral release of clubfoot Direct morphology False Contracture Inferred relationship Some 2
Contracture of breast following insertion of breast implant (disorder) Associated morphology True Contracture Inferred relationship Some 1
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. Associated morphology True Contracture Inferred relationship Some 1
A rare genetic disease characterized by congenital contractures of the distal interphalangeal joints, progressive stiffness of the shoulders and neck, keloid scarring, increased optic cup-to-disc ratio, and renal stones. Additional reported features include arthritis, osteoporosis, hypoplastic flexion creases, clinodactyly, anxiety, and facial dysmorphism (such as sloping forehead, prominent supraorbital ridges, downslanting palpebral fissures, prominent ears, and high arched palate). Female carriers exhibit a variable, milder phenotype. Associated morphology True Contracture Inferred relationship Some 2
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. Associated morphology True Contracture Inferred relationship Some 2
A rare genetic disease characterised by infantile or childhood onset of abnormal growth of hyalinised fibrous tissue, giving rise to multiple cutaneous nodules and/or pearly papules predominantly affecting the scalp, ears, neck, face, hands, and feet. Involvement of other organs results in gingival hyperplasia, osteolytic bone lesions, and joint contractures. Some patients exhibit visceral involvement with intractable diarrhoea, increased susceptibility to infections, and severe failure to thrive. Associated morphology True Contracture Inferred relationship Some 5
Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands. Associated morphology True Contracture Inferred relationship Some 3
A rare hyaline fibromatosis syndrome with characteristics of papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occurring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. Associated morphology True Contracture Inferred relationship Some 2
Contracture of left gastrocnemius muscle due to paralysis (disorder) Associated morphology True Contracture Inferred relationship Some 1
Contracture of bilateral gastrocnemius muscles due to paralysis (disorder) Associated morphology True Contracture Inferred relationship Some 1
Contracture of bilateral gastrocnemius muscles due to paralysis (disorder) Associated morphology True Contracture Inferred relationship Some 2
Muscle contracture of right ankle Associated morphology True Contracture Inferred relationship Some 1
Muscle contracture of left ankle Associated morphology True Contracture Inferred relationship Some 1
Contracture of right gastrocnemius muscle due to paralysis (disorder) Associated morphology True Contracture Inferred relationship Some 1
Contracture of joint of finger of bilateral hands due to scar (disorder) Associated morphology True Contracture Inferred relationship Some 1
Contracture of joint of finger of bilateral hands due to scar (disorder) Associated morphology True Contracture Inferred relationship Some 2
Contracture of muscle of bilateral thighs (disorder) Associated morphology True Contracture Inferred relationship Some 1
Contracture of muscle of bilateral thighs (disorder) Associated morphology True Contracture Inferred relationship Some 2
Contracture of muscle of left thigh Associated morphology True Contracture Inferred relationship Some 1
Contracture of muscle of right thigh Associated morphology True Contracture Inferred relationship Some 1
Bilateral contracture of muscle of forearms Associated morphology True Contracture Inferred relationship Some 1
Bilateral contracture of muscle of forearms Associated morphology True Contracture Inferred relationship Some 2
Bilateral contracture of muscle of shoulders Associated morphology True Contracture Inferred relationship Some 1
Bilateral contracture of muscle of shoulders Associated morphology True Contracture Inferred relationship Some 2
Torticollis due to birth injury Associated morphology True Contracture Inferred relationship Some 4
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of Pierre Robin Sequence (congenital micrognathia and glossoptosis with airway obstruction and a U-shaped cleft of the soft palate) with joint contractures and developmental delay. Additional variable manifestations include talipes equinovarus, arachnodactyly, radioulnar synostosis, severe hip dysplasia, cardiac anomalies, facial dysmorphism such as crumpled ear helices, and ocular abnormalities, among others. Associated morphology True Contracture Inferred relationship Some 4
Diffuse contracture of eye socket with volume and surface loss Associated morphology True Contracture Inferred relationship Some 1
Diffuse contracture of eye socket with volume loss (disorder) Associated morphology True Contracture Inferred relationship Some 1
Diffuse contracture of eye socket with surface loss Associated morphology True Contracture Inferred relationship Some 1
Congenital contraction of orbit Associated morphology True Contracture Inferred relationship Some 1
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. Associated morphology True Contracture Inferred relationship Some 3
Fibromatosis with contracture of plantar fascia Associated morphology True Contracture Inferred relationship Some 3
Dupuytren's contracture of finger (disorder) Associated morphology True Contracture Inferred relationship Some 3
Dupuytren's contracture of finger (disorder) Associated morphology True Contracture Inferred relationship Some 4
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. Associated morphology True Contracture Inferred relationship Some 2
Cicatricial contracture of skin following surgical procedure (disorder) Associated morphology True Contracture 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. Associated morphology True Contracture Inferred relationship Some 4
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases. Associated morphology True Contracture Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases. Associated morphology True Contracture Inferred relationship Some 2
Antenatal multi-minicore disease with arthrogryposis multiplex congenita Associated morphology True Contracture Inferred relationship Some 2
Diastrophic dysplasia Associated morphology True Contracture 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. Associated morphology True Contracture Inferred relationship Some 1
Pena-Shokeir syndrome type I (disorder) Associated morphology True Contracture Inferred relationship Some 1
Marden Walker syndrome Associated morphology True Contracture 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. Associated morphology True Contracture Inferred relationship Some 6
Hecht syndrome Associated morphology True Contracture Inferred relationship Some 1
Congenital muscular dystrophy with arthrogryposis multiplex congenita Associated morphology True Contracture Inferred relationship Some 4
Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome is an extremely rare, multiple congenital anomalies/dysmorphic syndrome characterized by micrognathia, a short, webbed neck, hypoplastic nipples and joint contractures (which improve over time) of the knees and elbows. In addition, sloping shoulders, mild to moderate hearing loss, mild speech impairment and facies with hypertelorism, short philtrum and tented upper lip may be associated. Associated morphology True Contracture Inferred relationship Some 6
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. Associated morphology True Contracture Inferred relationship Some 1
Capsular contracture of left breast Associated morphology True Contracture Inferred relationship Some 1
Capsular contracture of right breast Associated morphology True Contracture Inferred relationship Some 1
Contracture of right eye socket (disorder) Associated morphology True Contracture Inferred relationship Some 1
Contracture of left eye socket (disorder) Associated morphology True Contracture Inferred relationship Some 1
Congenital contracture of left gastrocnemius muscle (disorder) Associated morphology True Contracture Inferred relationship Some 1
Congenital contracture of right gastrocnemius muscle (disorder) Associated morphology True Contracture Inferred relationship Some 1
Congenital contracture of bilateral gastrocnemius Associated morphology True Contracture Inferred relationship Some 1
Congenital contracture of bilateral gastrocnemius Associated morphology True Contracture Inferred relationship Some 2
Contracture of bilateral eye sockets (disorder) Associated morphology True Contracture Inferred relationship Some 1
Contracture of bilateral eye sockets (disorder) Associated morphology True Contracture Inferred relationship Some 2
Contracture of urinary bladder Associated morphology True Contracture Inferred relationship Some 1
Lateral release for congenital deformity of foot Direct morphology True Contracture 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. Associated morphology True Contracture Inferred relationship Some 5
Congenital contracture of toe joint of right foot Associated morphology True Contracture Inferred relationship Some 1
Congenital contracture of toe joint of left foot (disorder) Associated morphology True Contracture Inferred relationship Some 1
Congenital contracture of toe joint of bilateral feet (disorder) Associated morphology True Contracture Inferred relationship Some 1
Congenital contracture of toe joint of bilateral feet (disorder) Associated morphology True Contracture Inferred relationship Some 3
A rare congenital, distal arthrogryposis syndrome characterised by microstomia, whistling-face appearance, chin with V- or H- shaped crease, and prominent nasolabial folds; most patients present club foot and congenital joint contractures of the hands and feet. It is the most severe form of distal arthrogryposis. Associated morphology True Contracture Inferred relationship Some 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. Associated morphology True Contracture Inferred relationship Some 3
Hecht syndrome Associated morphology True Contracture Inferred relationship Some 3
Congenital contractural arachnodactyly Associated morphology True Contracture Inferred relationship Some 4
Congenital muscular dystrophy with arthrogryposis multiplex congenita Associated morphology True Contracture Inferred relationship Some 5
Inherited arthrogryposis Associated morphology True Contracture Inferred relationship Some 3
Pena-Shokeir syndrome type I (disorder) Associated morphology True Contracture Inferred relationship Some 3

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