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345 results

Current membership scope: Domain and all descendants

ConceptNode typeBase domainMatched membershipIdentifier
Contracture
Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint.
DisorderPathologyMusculoskeletal System [curated_secondary]AMW:DIS:050215
Costello Syndrome
Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocogn…
SyndromePathologyMusculoskeletal System [curated_secondary]AMW:DIS:050310
Coxa Magna
Deformity of the hip characterized by enlargement and deformation of the FEMUR HEAD and FEMUR NECK, often with associated changes in the ACETABULUM. …
DisorderPathologyMusculoskeletal System [curated_secondary]AMW:DIS:050091
Coxa Valga
Hip deformity in which the angle between the femoral neck and its shaft is increased. It may be congenital, acquired, or developmental.
Pathologic ConditionPathologyMusculoskeletal System [curated_secondary]AMW:DIS:050085
Coxa Vara
Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital o…
Pathologic ConditionPathologyMusculoskeletal System [curated_secondary]AMW:DIS:050083
Craniofacial Abnormalities
Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.
Congenital DisorderPathologyMusculoskeletal System [curated_secondary]AMW:DIS:050307
Craniofacial Dysostosis
Autosomal dominant CRANIOSYNOSTOSIS with shallow ORBITS; EXOPHTHALMOS; and maxillary hypoplasia.
Congenital DisorderPathologyMusculoskeletal System [curated_secondary]AMW:DIS:050016
Craniofacial Fibrous Dysplasia
Mostly benign fibro-osseous proliferation of the facial bones and skull. It can be either monostotic (localized to a single bone) or polyostotic (loc…
Pathologic ConditionPathologyMusculoskeletal System [curated_secondary]AMW:DIS:050047
Craniomandibular Disorders
Diseases or disorders of the muscles of the head and neck, with special reference to the masticatory muscles. The most notable examples are TEMPOROMA…
DisorderPathologyMusculoskeletal System [curated_secondary]AMW:DIS:050182
Craniosynostoses
Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes ass…
Congenital DisorderPathologyMusculoskeletal System [curated_secondary]AMW:DIS:050027
Crystal Arthropathies
Joint disorders that are characterized by accumulation of microcrystals in and around the joint including in the SYNOVIAL FLUID. They are classified …
DisorderPathologyMusculoskeletal System [curated_secondary]AMW:DIS:050218
De Quervain Disease
Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting sy…
DisorderPathologyMusculoskeletal System [curated_secondary]AMW:DIS:050302
Decalcification, Pathologic
The loss of calcium salts from bones and teeth. Bacteria may be responsible for this occurrence in teeth. Old age may be a factor contributing to cal…
Metabolic DisorderPathologyMusculoskeletal System [curated_secondary]AMW:DIS:050070
Dentofacial Deformities
An abnormality of the jaws or teeth affecting the contour of the face. Such abnormality could be acquired or congenital.
Congenital DisorderPathologyMusculoskeletal System [curated_secondary]AMW:DIS:050318
Dermatomyositis
A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs …
Inflammatory DisorderPathologyMusculoskeletal System [curated_secondary]AMW:DIS:050287
Developmental Dysplasia of the Hip
Dislocation of the HIP JOINT from an abnormal FEMORAL HEAD to the ACETABULUM relationship. It is most often due to ligamentous laxity, abnormal posit…
Pathologic ConditionPathologyMusculoskeletal System [curated_secondary]AMW:DIS:050232
Diastasis, Bone
Abnormal separation of bones, often from a LIGAMENT.
Traumatic DisorderPathologyMusculoskeletal System [curated_secondary]AMW:DIS:050224
Diastasis, Muscle
Abnormal separation of muscles.
Traumatic DisorderPathologyMusculoskeletal System [curated_secondary]AMW:DIS:050226
DiGeorge Syndrome
Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cel…
SyndromePathologyMusculoskeletal System [curated_secondary]AMW:DIS:050309
Distal Myopathies
A heterogeneous group of genetic disorders characterized by progressive MUSCULAR ATROPHY and MUSCLE WEAKNESS beginning in the hands, the legs, or the…
Congenital DisorderPathologyMusculoskeletal System [curated_secondary]AMW:DIS:050265
Donohue Syndrome
Rare autosomal recessive syndrome of extreme insulin resistance due to mutations in the binding domain of INSULIN RECEPTOR. Clinical features include…
SyndromePathologyMusculoskeletal System [curated_secondary]AMW:DIS:050311
Dropped Head Syndrome
Condition characterized by sagging of the head due to severe NECK MUSCLES weakness in the back of the neck. It may result in severe cervical KYPHOSIS…
SyndromePathologyMusculoskeletal System [curated_secondary]AMW:DIS:050262
Dwarfism
A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is…
Congenital DisorderPathologyMusculoskeletal System [curated_secondary]AMW:DIS:050006
Dwarfism, Pituitary
A form of dwarfism caused by complete or partial GROWTH HORMONE deficiency, resulting from either the lack of GROWTH HORMONE-RELEASING FACTOR from th…
Metabolic DisorderPathologyMusculoskeletal System [curated_secondary]AMW:DIS:050011
Dysostoses
Defective bone formation involving individual bones, singly or in combination.
DisorderPathologyMusculoskeletal System [curated_secondary]AMW:DIS:050015
Ectromelia
Gross hypo- or aplasia of one or more long bones of one or more limbs. The concept includes amelia, hemimelia, phocomelia, and sirenomelia.
Congenital DisorderPathologyMusculoskeletal System [curated_secondary]AMW:DIS:050330
Elbow Tendinopathy
Inflammation (tendinitis) or degeneration (tendinosis) of the tendons of the elbow.
Traumatic DisorderPathologyMusculoskeletal System [curated_secondary]AMW:DIS:050298
Ellis-Van Creveld Syndrome
Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum. (Dorland, 27th …
SyndromePathologyMusculoskeletal System [curated_secondary]AMW:DIS:050043
Enchondromatosis
Benign growths of cartilage in the metaphyses of several bones.
DisorderPathologyMusculoskeletal System [curated_secondary]AMW:DIS:050044
Enthesopathy
A disorder occurring at the site of insertion of TENDONS or LIGAMENTS into bones or JOINT CAPSULES.
Traumatic DisorderPathologyMusculoskeletal System [curated_secondary]AMW:DIS:050300