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900000000000509007: United States of America English language reference set (foundation metadata concept)


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

Descriptions:

Id Description Lang Type Status Case? Module
900000000001115012 United States of America English language reference set en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT model component module (core metadata concept)
900000000001116013 US English en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT model component module (core metadata concept)
900000000001117016 United States of America English language reference set (foundation metadata concept) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT model component module (core metadata concept)


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US English Is a English [International Organization for Standardization 639-1 code en] language reference set (foundation metadata concept) true Inferred relationship Some

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A subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported. Preferred (foundation metadata concept)
A subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions). Preferred (foundation metadata concept)
A subtype of Ehlers-Danlos syndrome with characteristics of skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers. There is evidence the disease is caused by homozygous mutation of gene SLC39A13 on chromosome 11p11.2. Preferred (foundation metadata concept)
A subtype of Waardenburg syndrome (WS) with characteristics of congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum. Caused by a heterozygous mutation in the paired box-containing PAX3 gene on chromosome 2q36.1. In the majority of cases, WS1 is transmitted as an autosomal dominant disorder with a large variable inter and intrafamilial expressivity. Some affected patients present with a de novo mutation. Preferred (foundation metadata concept)
A subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders. It is a very rare disease; approximately 40 cases have been described in the literature. It is determined by acrocephaly, peculiar facies, brachydactyly and syndactyly in the hands, and preaxial polydactyly and syndactyly of the toes. Marked intrafamilial variability is possible. Inherited as an autosomal recessive trait. Preferred (foundation metadata concept)
A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and rarely other tissues. Bone marrow typically shows small hypo-lobated megakaryocytes and multilineage dysplasia. Patients typically present with leukocytosis, anemia, and variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported. Preferred (foundation metadata concept)
A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoiesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy. The disease is characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Preferred (foundation metadata concept)
A subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Preferred (foundation metadata concept)
A subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated. Preferred (foundation metadata concept)
A subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. Preferred (foundation metadata concept)
A subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease with characteristics of severe, early childhood-onset Charcot-Marie-Tooth neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology. Caused by homozygous mutation in the GDAP1 gene on chromosome 8q21. Preferred (foundation metadata concept)
A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed. Preferred (foundation metadata concept)
A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy. Preferred (foundation metadata concept)
A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported. Preferred (foundation metadata concept)
A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuro-psychomotor development is usually normal. Preferred (foundation metadata concept)
A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed. Preferred (foundation metadata concept)
A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare. Preferred (foundation metadata concept)
A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation. Preferred (foundation metadata concept)
A subtype of non-spastic cerebral palsy with involuntary, uncontrolled recurring, and occasionally stereotyped movements with a varying muscle tone; primitive reflex patterns predominate. Preferred (foundation metadata concept)
A subtype of non-spastic cerebral palsy with loss of muscular coordination with abnormal force and rhythm, and impairment of accuracy; commonly presents with gait and trunk ataxia, poor balance, past pointing, terminal intention tremor, scanning speech, nystagmus and other abnormal eye movements, and hypotonia. Low tone is a prominent feature. Preferred (foundation metadata concept)
A sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually, the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. An EEG (electroencephalogram) shows generalized spike-wave discharges during the event. A seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. Preferred (foundation metadata concept)
A sudden pain, usually sharp, occurring during movement, or exacerbated by movement, and prompting cessation of movement Preferred (foundation metadata concept)
A sudden paroxysm of a predominant arrest (pause) of activities, freezing and immobilization with electrographic correlate, that occurs during the period from birth until 44 weeks postmenstrual age. Preferred (foundation metadata concept)
A sudden paroxysm of abnormal motor and/or non-motor phenomenon with electrographic correlate that occurs during the period from birth until 44 weeks postmenstrual age. Preferred (foundation metadata concept)
A sudden paroxysm of abnormal motor and/or non-motor phenomenon with electrographic correlate, or a neonatal electrographic-only seizure (without clinical correlate) that occurs during the period from birth until 44 weeks postmenstrual age. Preferred (foundation metadata concept)
A sudden paroxysm of abnormal motor and/or non-motor phenomenon with or without electrographic correlate, or a neonatal electrographic-only seizure (without clinical correlate) that occurs during the period from birth until 44 weeks postmenstrual age. Preferred (foundation metadata concept)
A sudden paroxysm of abnormal motor, non-motor or electrographic-only phenomenon occurring in sequence within a single seizure. No predominant feature can be determined instead the seizure presents with a variety of clinical signs. Preferred (foundation metadata concept)
A sudden paroxysm of abnormal predominantly motor phenomenon with electrographic correlate that occurs during the period from birth until 44 weeks postmenstrual age. Preferred (foundation metadata concept)
A sudden paroxysm of abnormal predominantly non-motor phenomenon with electrographic correlate that occurs during the period from birth until 44 weeks postmenstrual age. Preferred (foundation metadata concept)
A sudden paroxysm of brief (less than 100 milliseconds) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal) with electrographic correlate, that occurs during the period from birth until 44 weeks postmenstrual age. Preferred (foundation metadata concept)
A sudden paroxysm of distinct alteration of autonomic nervous system function involving cardiovascular, pupillary, gastrointestinal, sudomotor (sweating), vasomotor, or thermoregulatory functions with electrographic correlate, that occurs during the period from birth until 44 weeks postmenstrual age. Preferred (foundation metadata concept)
A sudden paroxysm of flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles, with electrographic correlate, that occurs during the period from birth until 44 weeks postmenstrual age. Preferred (foundation metadata concept)
A sudden paroxysm of predominant automatisms, defined as more or less coordinated motor activity with electrographic correlate, that occurs during the period from birth until 44 weeks postmenstrual age. Preferred (foundation metadata concept)
A sudden paroxysm of regularly repetitive jerking of the same muscle groups which is either symmetric or asymmetric with electrographic correlate, that occurs during the period from birth until 44 weeks postmenstrual age. Preferred (foundation metadata concept)
A sudden paroxysm of sustained increase in muscle contraction lasting a few seconds to minutes, with electrographic correlate, that occurs during the period from birth until 44 weeks postmenstrual age. Preferred (foundation metadata concept)
A supernumerary tooth located near the midline of the dental arch between two central incisors. Preferred (foundation metadata concept)
A supernumerary tooth resembling a molar tooth especially in shape. Preferred (foundation metadata concept)
A supportive process, characterized by a collaborative counselor-patient/client relationship to establish food, nutrition and physical activity priorities, goals and individualized action plans that acknowledge and foster responsibility for self-care to treat an existing condition and promote health. Preferred (foundation metadata concept)
A surgical cardiac procedure involving repair of the aortic valve by implanting a replacement valve (within a stent) into the previously implanted aortic valve without removing the old, damaged valve or the previously implanted valve. Preferred (foundation metadata concept)
A surgical cardiac procedure involving repair of the aortic valve by wedging a replacement valve (within a stent) into the aortic valve without removing the old, damaged valve. Preferred (foundation metadata concept)
A surgical procedure to remove breast tissue while preserving the nipple and areola and the majority of the skin envelope. Preferred (foundation metadata concept)
A surgical procedure to remove breast tissue, nipple and areola while preserving the majority of the skin envelope. Preferred (foundation metadata concept)
A surgical procedure where a catheter is passed through a cut in the chest wall and then through the heart wall (transapical) and positioned across the leaking mitral valve. A bioprosthetic mitral valve is then passed through the tube (transcatheter) and placed within the existing surgically implanted mitral valve ring. The aim is to treat the leaking mitral valve without needing to repeat open-heart surgery. Preferred (foundation metadata concept)
A surgical process in which a solid organ, which may be complete or partial, is moved from one individual (the donor, which may be from the patient or from another individual) or from an animal or artificial, and implanted into a recipient individual. Preferred (foundation metadata concept)
A sustained increase in bilateral muscle contraction lasting a few seconds to minutes. A seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. Preferred (foundation metadata concept)
A syndrome marked by significant anxiety symptoms directly caused by a physical health condition, not classified as a mental disorder. This determination is based on the patient's history, physical examination or laboratory findings. These symptoms are not due to delirium, another mental disorder, or a psychological reaction to a severe medical diagnosis. Preferred (foundation metadata concept)
A syndrome of emergence or increment of neuropsychiatric symptoms, such as confusion and behavioral disturbances, in the late afternoon, early evening or at night. Preferred (foundation metadata concept)
A syndrome with characteristics of facial dysmorphism, a progeroid appearance, large and late closing fontanelle, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract. Preferred (foundation metadata concept)
A syndrome with the association of demyelinating leukodystrophy and progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia. It has been diagnosed in four unrelated patients. These symptoms suggest the association of a myelination defect (of the central and peripheral nervous systems) with an endocrinal deficiency of the pituitary gland. Preferred (foundation metadata concept)
A syndromic craniosynostosis with a wide range of clinical findings even within a single family. Most have coronal synostosis however synostosis of other sutures, all sutures, macrocephaly without craniosynostosis, or a normal skull may be observed. Bilateral coronal synostosis usually results in brachycephaly with temporal bossing and facial symmetry. Craniofacial findings include widely spaced eyes, ptosis or proptosis, strabismus, and high arched palate or cleft lip/palate. Over 70% of patients have some form of hearing loss. Additional extracranial manifestations include otitis media, brachydactyly, broad toes, broad thumbs, clinodactyly, developmental delay and intellectual disability. Caused by mutation in the FGFR3 gene (4p16.3), encoding fibroblast growth factor receptor 3, which is required for normal skeleton development. Inheritance is autosomal dominant. Preferred (foundation metadata concept)
A syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals. Preferred (foundation metadata concept)
A syndromic genetic deafness with characteristics of erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated. Preferred (foundation metadata concept)
A synthetic graft of skin is when the graft consists of synthetic materials, for example, silicone graft. Preferred (foundation metadata concept)
A system of medicine which aims at discovering the exact nature of the relationship between the emotions and bodily function, affirming the principle that the mind and body are one. Preferred (foundation metadata concept)
A systolic blood pressure ≥150 mm Hg or diastolic blood pressure ≥90 mm Hg while lying down. Preferred (foundation metadata concept)
A tablet covered with one or more layers of (mixtures of) substances (e.g. sugars and waxes) making the coating thicker than a film; the release characteristics of the active substance in the dose form remain "Intrinsic" (i.e. conventional release). Preferred (foundation metadata concept)
A target or goal is a parameter whose value is to be achieved, typically through some intervention. Preferred (foundation metadata concept)
A targeted cancer treatment that delivers radiation to select types of cells using a radioligand. A radioligand has two components, a radioisotope, in this case, lutetium (177-Lu) labeled somatostatin analog and a cell-targeting compound known as a ligand. Preferred (foundation metadata concept)
A tear with a flap displaced to the vertical or horizontal direction. Preferred (foundation metadata concept)
A technique in which the double layer of peritoneum that invests the intestines and its associated vascular, neural and lymphatic structures is relieved of tension from the attachments to the posterior wall of the abdomen which include the root of the mesentery, hepatic and splenic flexures and ascending and descending colon. Preferred (foundation metadata concept)
A technique of brachytherapy that directs the radiation into the tumor and away from healthy tissue, for example, by incorporation of static or dynamic metallic shields inside brachytherapy applicators. Preferred (foundation metadata concept)
A technique of external beam radiation therapy where both photon and particle based beams are used to deliver the radiation therapy. Preferred (foundation metadata concept)
A technique of neutron radiation therapy with conformal application of neutron beams that result in substantial reduction in normal tissue dose. Preferred (foundation metadata concept)
A technique that consists of intermittent compression of the thoracic cage. Preferred (foundation metadata concept)
A technique used to void urine from the bladder by exerting manual pressure on the abdomen at the location of the bladder just below the navel. Preferred (foundation metadata concept)
A technique where desired behaviors are practiced in preparation for use in a real-life situation. Preferred (foundation metadata concept)
A temporary situation during which the apex of the tooth root demonstrates the radiographic appearance of resorption following trauma. The finding generally returns to normal following repair within a period of one year. Preferred (foundation metadata concept)
A teratogenic embryofetopathy that results from maternal exposure to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia. Preferred (foundation metadata concept)
A teratologic disorder associated with intrauterine exposure of phenobarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, finger hypoplasia, brachydactyly and hypospadias have been reported in rare cases. Preferred (foundation metadata concept)
A term defining a group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Disease onset depends on the specific disorder. The most important component seen in this group are malignancies. Preferred (foundation metadata concept)
A term used to describe the impact of intrathoracic pressure changes on lymphatic flow. Preferred (foundation metadata concept)
A therapeutic behavioral technique of purposely scheduling and undertaking enjoyable activities to assist with elevating mood. Preferred (foundation metadata concept)
A therapeutic treatment which involves connecting with nature through activities to support and improve wellbeing. Preferred (foundation metadata concept)
A therapy that induces intermittent intra-abdominal vagal blocking with the use of high frequency electrical energy. Preferred (foundation metadata concept)
A thick split thickness graft that consists of the epidermis and less than the entire thickness of the dermis. Split thickness graft of skin can be categorized further as thin, intermediate, or thick based on the thickness of the harvested graft. Preferred (foundation metadata concept)
A thin split thickness graft that consists of the epidermis and less than the entire thickness of the dermis. Split thickness graft of skin can be categorized further as thin, intermediate, or thick based on the thickness of the harvested graft. Preferred (foundation metadata concept)
A tissue texture abnormality characterized principally by a palpable sense of sponginess in the tissue, interpreted as resulting from congestion due to increased fluid content. Preferred (foundation metadata concept)
A tongue position where the tongue is pulled back in the mouth altering the shape of the sublingual space. Preferred (foundation metadata concept)
A tooth which erupts after birth in the neonatal period. Preferred (foundation metadata concept)
A tooth whose root canal system has been filled in three dimensions and where a surplus of material extrudes beyond the foramina. Preferred (foundation metadata concept)
A tooth whose root canal system has been inadequately obturated in any dimension, leaving large reservoirs for recontamination. Preferred (foundation metadata concept)
A topical route that begins on the skin or cutaneous wounds and/or nails and/or hair. Preferred (foundation metadata concept)
A total or near-total absence of Willebrand factor (VWF) in the plasma and cellular compartments leading to a profound deficiency of plasmatic factor VIII (FVIII). It is the most severe form of von Willebrand disease. Onset usually occurs during the neonatal period or in infancy, but later onset has been reported. The disease is caused by homozygous or compound heterozygous mutations (mainly missense or large mutations) in the VWF gene (12p13.3) that lead to synthesis of a truncated protein or allele silencing. The pattern of inheritance is autosomal recessive. Preferred (foundation metadata concept)
A toxin used by animals and injected into their victims by a bite or sting Preferred (foundation metadata concept)
A transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain, regardless of whether focal, generalized, or unknown onset, whether aware or impaired awareness, and whether motor or nonmotor. Preferred (foundation metadata concept)
A transplantation where the donor and recipient are part of genetically identical organisms. Preferred (foundation metadata concept)
A transplantation where the donor and recipient spots are from antigenically distinct individuals of the same species. Preferred (foundation metadata concept)
A treatment approach that utilizes a localized form of radiation that treats only the lumpectomy bed plus a 1-2 cm margin. Preferred (foundation metadata concept)
A treatment method in which a dysfunctional body region is addressed with a combination of neutral positioning, application of an activating force (compression, torsion, or distraction), and placement into position of ease. Preferred (foundation metadata concept)
A treatment method in which steady pressure is applied to soft tissues to reduce reflex activity and promote tissue relaxation. Preferred (foundation metadata concept)
A treatment method in which the osteopathic practitioner moves the dysfunctional fascial tissues in response to a sensation of ease and bind in a dynamic continuous process. Preferred (foundation metadata concept)
A treatment method intended to normalize neuromuscular function by applying a manual oscillatory force, which may be combined with any other ligamentous or myofascial technique. Preferred (foundation metadata concept)
A treatment strategy where the initial movements are indirect; as the technique is completed the movements change to direct forces; A manipulative sequence involving two or more different osteopathic manipulative treatment method (e.g., Spencer technique combined with muscle energy technique). Preferred (foundation metadata concept)
A true combined periodontal and endodontic lesion forms when a periodontal lesion and an endodontic lesion develop independently, then these two separate lesions join at the root surface. Preferred (foundation metadata concept)
A two dimensional cross section view made up of numerous brightness mode scan lines. Preferred (foundation metadata concept)
A type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. Caused by homozygous or heterozygous mutation in the tenascin-XB gene on chromosome 6p21. Preferred (foundation metadata concept)
A type of allergic process that results in an immune response to a foreign antigen. Preferred (foundation metadata concept)
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. Preferred (foundation metadata concept)
A type of cancer treatment that targets specific genes and proteins to prevent cancer cells surviving, growing or duplicating e.g. small molecule drugs or monoclonal antibodies. Preferred (foundation metadata concept)
A type of cerebral palsy defined by increased tone and pathological reflexes resulting in an abnormal pattern of movement and posture. Preferred (foundation metadata concept)
A type of classical xanthinuria, this disease is a rare autosomal recessive disorder of purine metabolism with characteristics of isolated deficiency of xanthine dehydrogenase, leading to urolithiasis, hematuria, renal colic and urinary tract infections. Some patients are asymptomatic, others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer. Preferred (foundation metadata concept)

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