900000000000508004: Great Britain English language reference set (foundation metadata concept)

SNOMED CT Concept\SNOMED CT Model Component\Foundation metadata concept (foundation metadata concept)\Reference set\Language type reference set (foundation metadata concept)\English [International Organization for Standardization 639-1 code en] language reference set (foundation metadata concept)\GB English

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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
GB English	Is a	English [International Organization for Standardization 639-1 code en] language reference set (foundation metadata concept)	true	Inferred relationship	Some

Members	acceptabilityId
A substance that competes with, replaces or inhibits a specific metabolite of a cell and thereby interferes with the cell's normal metabolic functioning.	Preferred (foundation metadata concept)
A substance that destroys or impairs the function of living cells	Preferred (foundation metadata concept)
A substance that forms a complex with metal ions or other substrates	Preferred (foundation metadata concept)
A substance that increases the risk of neoplasms in humans or animals either by directly affecting DNA or inducing neoplasms by other mechanisms	Preferred (foundation metadata concept)
A substance that is produced by a living organism and is toxic, noxious, or poisonous.	Preferred (foundation metadata concept)
A substance that modifies the immune response or the functioning of the immune system.	Preferred (foundation metadata concept)
A subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 with 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 with characteristics of 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 Charcot-Marie-Tooth type 4 with characteristics of childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities and the typical Charcot-Marie-Tooth phenotype (i.e. distal muscle weakness and atrophy, and sensory loss). There is evidence this disease is caused by homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q.	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 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 leukaemia with recurrent genetic abnormalities characterised by clonal proliferation of myeloid blasts harbouring 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. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy.	Preferred (foundation metadata concept)
A subtype of acute myeloid leukaemia with recurrent genetic abnormalities characterised 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, anaemia, and variable platelet counts and a variety of nonspecific symptoms related to ineffective haematopoesis (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 leukaemia with recurrent genetic abnormalities, characterised by clonal proliferation of myeloid blasts harbouring somatic mutations of the CEBPA gene in the bone marrow, blood and rarely other tissues. It can present with anaemia, thrombocytopenia, and other nonspecific symptoms related to ineffective haematopoesis (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 with characteristics of 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, pan modal 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 with characteristics of slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle.	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 with characteristics of childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadriparesis, calf hypertrophy, triangular tongue and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration.	Preferred (foundation metadata concept)
A subtype of dystrophic epidermolysis bullosa characterised by generalised cutaneous and mucosal blistering that is not associated with severe deformities.The disease manifests at birth or during the neonatal period with generalised blistering. Aplasia cutis congenita can also be observed at birth. The disease is caused by mutations within the type VII collagen gene (COL7A1) that lead to an alteration of function or a reduction in the amounts of collagen VII. This impairs collagen VII assembly into anchoring fibrils which anchor the basement membrane to the underlying dermis. This in turn causes reduced skin resistance to minor trauma. Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A subtype of junctional epidermolysis bullosa the condition occurs in childhood or young adulthood. 22 patients in 12 families have been reported to date. Blistering occurs at first around nails, accompanied by nail dystrophy and shedding, and then affects the hands and feet and, to a lesser extent, the elbows, knees, along with atrophic scarring. Other manifestations include disappearance of dermatoglyphs and palmoplantar hyperhidrosis. Extracutaneous involvement is restricted to soft tissue abnormalities of the oral cavity and enamel defects with development of caries. COL17A1 mutations have recently been described in an affected family. The condition follows an autosomal recessive pattern of inheritance.	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 pain, usually sharp, occurring during movement, or exacerbated by movement, and prompting cessation of movement	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, characterised by a collaborative counsellor–patient/client relationship to establish food, nutrition and physical activity priorities, goals and individualised action plans that acknowledge and foster responsibility for self-care to treat an existing condition and promote health.	Preferred (foundation metadata concept)
A suprabasal subtype of epidermolysis bullosa simplex characterised by generalised superficial erosions and less commonly blistering. Prevalence is unknown but 11 cases have been reported to date. Onset of the disease is usually at birth with skin blistering and generalised erythema which rapidly regresses. The disease is due to mutations in the PKP1 (1q32) gene encoding plakophilin-1. Transmission is autosomal recessive.	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 cardiac procedure involving repair of the aortic valve by wedging a replacement valve (within a stent) into the previously replaced aortic valve without removing the old, damaged valve or the previously replaced valve.	Preferred (foundation metadata concept)
A surgically correctable form of primary hyperaldosteronism characterised by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland. May be associated with hypokalaemia, which, when present, may be symptomatic with muscular weakness, cramps, paresthesia or palpitations with or without atrial fibrillation.The aetiology is not known. Unilateral adrenalectomy abolishes aldosterone hypersecretion and hypokalaemia in most patients.	Preferred (foundation metadata concept)
A syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome. The characteristics of this syndrome are progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect and ureteral anomalies. To date 5 unrelated patients have been reported, including one family with multiple affected persons. This syndrome is due to a non-recurrent microdeletion in 8q13. All patients have a deletion of two contiguous genes: SULF1 and SLCO5A1. Transmitted as an autosomal dominant trait.	Preferred (foundation metadata concept)
A syndrome affecting the development of blood vessels, soft tissue and bone with three characteristic features: port-wine stain, abnormal overgrowth of soft tissues and bones and venous malformations. Caused by mutations in the PIK3CA gene. This gene provides instructions for making the p110 alpha (p110α) protein, which is a subunit of phosphatidylinositol 3-kinase (PI3K). The PIK3CA gene mutations associated with Klippel-Trenaunay syndrome alter the p110α protein. The altered subunit makes PI3K abnormally active, which allows cells to grow and divide continuously. Increased cell proliferation leads to abnormal growth of the bones, soft tissues, and blood vessels. This syndrome is almost always sporadic meaning it can occur in people with no history of the disorder in their family. Studies suggest that the condition results from gene mutations that are not inherited.	Preferred (foundation metadata concept)
A syndrome associating neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatopathy evolving to fibrosis and polycystic kidneys. It has been described in two siblings. Minor facial anomalies were also observed. Two other families presented incomplete forms of this syndrome. Mutations in GLIS3 encoding for the transcription factor GLI similar 3 seem to be responsible for the syndrome.	Preferred (foundation metadata concept)
A syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalised overgrowth (O). It has been described in six unrelated patients. Capillary malformation of the lower lip is observed in all patients. The overgrowth was noted at birth in three patients but was generalised in only one patient; it was partial in the other patients and involved one or more body segments. Inheritance of this association is not known.	Preferred (foundation metadata concept)
A syndrome described in three members of a family (a boy, his father and his paternal grandmother) with the association of aniridia and patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.	Preferred (foundation metadata concept)
A syndrome of abnormal cortical development with characteristics of severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case.	Preferred (foundation metadata concept)
A syndrome of emergence or increment of neuropsychiatric symptoms, such as confusion and behavioural disturbances, in the late afternoon, early evening or at night.	Preferred (foundation metadata concept)
A syndrome of mental retardation/multiple congenital malformations that is caused by the total or partial duplication of the short arm of chromosome 10. Around 50 cases have been described in the literature. The anomalies are present at birth. Children are usually dolichocephalic with a high and prominent forehead, contrasting with a small face. Osteoarticular anomalies are frequent, including ligament hyperlaxity, flexion deformations of limbs, and club feet. Cardiac, renal, ocular and bone malformations have been reported. The majority of cases are a result of the malsegregation of a familial balanced translocation. The most frequent break point is located at the level of p11 band, but it can be more distal and result in partial trisomy.	Preferred (foundation metadata concept)
A syndrome of multiple congenital anomalies with characteristics of encephalopathy that predominantly occurs in the first year of life and presents as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991.	Preferred (foundation metadata concept)
A syndrome of multiple congenital anomalies with characteristics of radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula) and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis and Duane anomaly).The phenotype overlaps with related disorders including Okihiro syndrome and Holt-Oram syndrome. Transmission is autosomal dominant.	Preferred (foundation metadata concept)
A syndrome of multiple congenital malformations with an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension) and obstructive renal disease (ectopic ureteric insertion, obstruction, hydronephrosis). Gastrointestinal tract and cardiac involvement have also been reported. An overlap with Kabuki syndrome is debated.	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 characteristics of immune deficiency and neurological disorders in females and neonatal death in males. The syndrome has been described in only one family with nine affected individuals (five males and four females) spanning two generations. Symptomatic females present slowly progressive proximal muscle weakness, leg hyperreflexia, pes cavus, increased muscle tone in the legs, poor bladder function, static reduced night vision and frequent sinopulmonary infections associated with IgG2 deficiency. Males present with low birth weight and severe hypotonia that leads to death in the neonatal period. The gene locus has been mapped to Xq26-qter.	Preferred (foundation metadata concept)
A syndrome with the association of demyelinating leucodystrophy 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 developmental defect of the eye with characteristics of dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs. There is evidence the syndrome is caused by homozygous mutation in the ASPH gene on chromosome 8q12.	Preferred (foundation metadata concept)
A syndromic disorder with the association between Dandy-Walker malformation and postaxial polydactyly as a major feature. The Dandy-Walker malformation has a variable expression and characteristics of 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 syndromic limb malformation characterised by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalisation of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.	Preferred (foundation metadata concept)
A synostosis syndrome reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965.	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 target or goal is a parameter whose value is to be achieved, typically through some intervention.	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 tumour 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 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 disorder associated with intrauterine exposure to phenobarbital during the first trimester of pregnancy. Infants are usually asymptomatic but at 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.	Preferred (foundation metadata concept)
A teratogenic disorder caused by exposure to retinoid during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies.	Preferred (foundation metadata concept)
A teratogenic embryofetopathy that results from maternal exposition to methimazole in the first trimester of pregnancy. Methimazole is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, methimazole may result in choanal atresia, oesophageal 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 up slanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia.	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 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 categorised 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 categorised further as thin, intermediate, or thick based on the thickness of the harvested graft.	Preferred (foundation metadata concept)
A tissue texture abnormality characterised 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 and has the propensity for systemic absorption via the dermal layer.	Preferred (foundation metadata concept)
A topical route that begins on the skin and that has the propensity to be absorbed through the skin.	Preferred (foundation metadata concept)
A topical route that begins on the skin or cutaneous wounds and/or nails and/or hair in order to obtain a local effect.	Preferred (foundation metadata concept)
A toxin used by animals and injected into their victims by a bite or sting	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 transplantation where the donor and recipient spots are part of genetically identical organisms	Preferred (foundation metadata concept)
A transplantation where the donor and recipient spots are part of the same organism	Preferred (foundation metadata concept)
A treatment approach that utilises a localised 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 two dimensional cross section view made up of numerous brightness mode scan lines.	Preferred (foundation metadata concept)
A type of Ehlers-Danlos syndrome characterised by generalised 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 Oculocutaneous albinism with varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm. Cutaneous hypopigmentation is often visible at birth and signs of nystagmus and strabismus present in the first year of life. Visual changes are not progressive. Caused by mutations in the membrane-associated transporter protein (MATP) gene, SLC45A2, encoding a transporter protein which is thought to mediate melanin synthesis. Inheritance is autosomal recessive.	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 with characteristics of congenital cleft palate, microcephaly, craniostenosis and arthrogryposis. Additional features include facial dysmorphism. Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalised muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleroedema 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 central congenital hypothyroidism with characteristics of low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to thyrotropin-releasing hormone (TRH). It may or may not be observed from birth. The clinical manifestations are often subtle, probably as a result of trans-placental passage of some maternal thyroid hormone or due to the fact that many infants have some thyroid production of their own. More specific symptoms and signs often do not develop until several months of age. Common clinical features and signs include decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice. Slow linear growth and developmental delay are usually apparent by 4-6 months of age. Caused by mutations in the TRH receptor gene (TRHR; 8q23).	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, haematuria, 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)
A type of familial infantile gigantism caused by microduplication of Xq26.3. Onset usually occurs in the first year of life in previously normal infants. Patients present with gigantism and may associate acromegalic features (e.g. coarse facial features, frontal bossing, prognathism, increased interdental space) as well as marked enlargement of hands and feet, soft tissue swelling, appetite increase and acanthosis nigricans. May present as a sporadic condition or as familial isolated pituitary adenomas.	Preferred (foundation metadata concept)
A type of hereditary spastic paraplegia with usual characteristics of pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (more than 30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.	Preferred (foundation metadata concept)
A type of immune mediated hypersensitivity process that represents the underlying mechanism of allergic conditions.	Preferred (foundation metadata concept)
A type of intensity modulated radiation therapy technique where the radiotherapy machine rotates around the patient, radiating the target in a complete three dimensional manner with variable speed and/or dose rate.	Preferred (foundation metadata concept)

Start Previous Page 160 of 12332 Next End

Reference Sets

Reference set descriptor

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
900000000001112010	Great Britain 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)
900000000001113017	GB English	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)
900000000001114011	Great Britain 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)