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 lethal skeletal dysplasia with characteristics of cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralisation. First described in 1989, less than 30 cases have been reported so far. Aetiology is not well known, but some histological findings report growth plate disorganisation and adjacent diaphyseal ossification. There is evidence that the disease is caused by heterozygous mutation in the FAM111A gene (615292) on chromosome 11q12.	Preferred (foundation metadata concept)
A life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of Behcet disease, with the association of multiple pulmonary artery aneurysms and peripheral venous thrombosis. Prevalence is unknown but fewer than 30 cases have been reported in the literature since its first description in 1959 by Hughes and Stovin. Patients (mostly men aged 12-40 years) generally present with the nonspecific signs of pulmonary artery aneurysms, following a history of peripheral venous thrombosis. Other associated signs may include fever and intracranial hypertension. Aneurysms can occur anywhere in the systemic circulation. Recurrent phlebitis also commonly involves the large vessels, resulting in thrombus formation. In general, there is a predisposition for thrombus formation affecting the peripheral veins. It is assumed the disease is a form of vasculitis following a similar mechanism of pathogenesis to that thought to be involved in Behcet disease.	Preferred (foundation metadata concept)
A life-threatening multi organ disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair. There is evidence this disease is caused by homozygous mutation in the ITGA3 gene on chromosome 17q21.	Preferred (foundation metadata concept)
A life-threatening rapidly progressive thrombotic disorder affecting mainly neonates and children that has characteristics of purpuric skin lesions and disseminated intravascular coagulation. The disease may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of acquired purpura fulminans that are classified according to triggering mechanisms: acute infectious (the most common form) and idiopathic.	Preferred (foundation metadata concept)
A life-threatening syndrome with manifestation of progressive and painful skin ulcerations associated with calcification of medium-size and small cutaneous arterial vessels. It affects mainly patients on dialysis or after renal transplantation.	Preferred (foundation metadata concept)
A ligation where the surgical suture serves as a ligature	Preferred (foundation metadata concept)
A limb girdle muscular dystrophy caused by caveolin-3 deficiency with characteristics of weakness in limb-girdle muscles, calf muscle hypertrophy and lack of respiratory and cardiac involvement.	Preferred (foundation metadata concept)
A limb girdle muscular dystrophy caused by myotilin deficiency with characteristics of limb-girdle weakness in combination with dysarthria.	Preferred (foundation metadata concept)
A limb girdle muscular dystrophy characterised by symmetrical and selective atrophy and weakness of proximal limb and girdle muscles without cardiac or facial disturbances.	Preferred (foundation metadata concept)
A limb girdle muscular dystrophy with characteristics of muscular weakness, primarily affecting the pelvic and shoulder girdles with no bulbar weakness or dysarthria.	Preferred (foundation metadata concept)
A limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been described, unilateral and bilateral. There have been no further descriptions in the literature since 1962.	Preferred (foundation metadata concept)
A limb-girdle muscular dystrophy with characteristics of skeletal and cardiac myopathy with cardiac conduction defects and muscle cytoplasmic inclusions.	Preferred (foundation metadata concept)
A line connecting the anterior nasal spine to the posterior nasal spine.	Preferred (foundation metadata concept)
A line connecting the midpoint of the sella turcica (Sella) to the most anterior inferior point of chin (Gnathion).	Preferred (foundation metadata concept)
A line extending from a constructed point representing the intersection of the inferior surface of the cranial base and the posterior outlines of the mandibular condyles to the most posterior inferior point on the outline of the angle of the mandible.	Preferred (foundation metadata concept)
A line extending from the incisal tip of the most protrusive lower incisor thru the root tip.	Preferred (foundation metadata concept)
A line extending from the intersection of the internasal and frontonasal sutures, in the midsagittal plane (nasion) and the anterior limit of the mandibular basal bone (b point).	Preferred (foundation metadata concept)
A line extending from the intersection of the internasal and frontonasal sutures, in the midsagittal plane (nasion) and the junction of frontal bone and nasal bone (a point).	Preferred (foundation metadata concept)
A line extending from the intersection of the internasal and frontonasal sutures, in the midsagittal plane (nasion) and the most anterior point of bony chin (pogonion).	Preferred (foundation metadata concept)
A line extending from the intersection of the internasal and frontonasal sutures, in the midsagittal plane (nasion) and the most anterior point of the alveolar process of the mandible (infradentale).	Preferred (foundation metadata concept)
A line extending from the intersection of the internasal and frontonasal sutures, in the midsagittal plane (nasion) and the most inferior anterior point on the maxillary alveolar process, between the central incisors (prosthion).	Preferred (foundation metadata concept)
A line extending from the intersection of the internasal and frontonasal sutures, in the midsagittal plane (nasion) and the most posterior inferior point on the outline of the angle of the mandible (gonion).	Preferred (foundation metadata concept)
A line extending from the most inferior point of the mandibular symphysis in the midsagittal plane (menton) to the most posterior inferior point on the outline of the angle of the mandible (gonion).	Preferred (foundation metadata concept)
A line joining points sella and nasion.	Preferred (foundation metadata concept)
A line segment connecting anterior pole of cornea to posterior pole of sclera	Preferred (foundation metadata concept)
A liquid dose form consisting an alcoholic extract of plant or animal material.	Preferred (foundation metadata concept)
A liquid dose form consisting of a suspension of fine particles in a suitable vehicle.	Preferred (foundation metadata concept)
A liquid dose form consisting of active substance(s) dissolved in a concentrated solution of sugar.	Preferred (foundation metadata concept)
A liquid dose form consisting of active substance(s) dissolved in a hydrophobic base.	Preferred (foundation metadata concept)
A liquid dose form consisting of active substance(s) in a mixture of ether and ethanol.	Preferred (foundation metadata concept)
A liquid dose form consisting of active substance(s) in an alcohol.	Preferred (foundation metadata concept)
A liquid dose form consisting of active substance(s) in an aqueous solution.	Preferred (foundation metadata concept)
A liquid dose form consisting of an oil-in-water emulsion.	Preferred (foundation metadata concept)
A liquid dose form usually presented in a pressurised multi-dose container equipped with an applicator suitable for delivery of a foam consisting of large volumes of gas dispersed in a liquid containing active substance(s).	Preferred (foundation metadata concept)
A listening of the sounds produced in response to tapping the body surface	Preferred (foundation metadata concept)
A listening to spontaneously generated body sounds	Preferred (foundation metadata concept)
A local anaesthetic injection into the thoracic paravertebral space in the region of the thoracic spinal nerves close to their emergence from the intervertebral foramen.	Preferred (foundation metadata concept)
A low velocity/moderate to high amplitude activating force using pressure and motion applied repeatedly against the restrictive barrier of a dysfunctional structure.	Preferred (foundation metadata concept)
A lysosomal storage disease belonging to the group of sphingolipidoses. It is very rare with less than 10 cases reported in the literature so far. Clinically, it is a severe neurovisceral disease manifesting immediately after birth and following a rapidly progressive fatal course. The neurological signs and symptoms include hypotonia, massive myoclonic bursts, abnormal ocular movements and dystonia. Grand mal seizures and seizures triggered by tactile stimuli have been described. Patients also develop hepatosplenomegaly. Death usually occurs from respiratory failure following repeated pulmonary infections. The disease is caused by mutations in the PSAP gene (10q21) leading to absence or non-functionality of the prosaposin protein. The mode of inheritance is autosomal recessive.	Preferred (foundation metadata concept)
A lysosomal storage disease with characteristics of coarse facial features, macular cherry red spot, and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.	Preferred (foundation metadata concept)
A lysosomal storage disease with clinical characteristics of psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration or strabismus. The disease is rare in the general population but is more prevalent among Ashkenazi Jews. First signs appear during the first year of life or later, but clinical progression is usually slow. In this disease phospholipids, gangliosides and mucopolysaccharides accumulate in lysosomal inclusions, some of which resemble membranous cytoplasmic bodies found in gangliosidoses. The condition seems to be caused by anomalies in the endocytosis of membrane components towards the lysosomes. The causative gene, MCOLN1, is located in the 19p13.3-p13.2 region and encodes mucolipin-1 (MLN1), a membrane protein from the transient receptor potential (TRP) channel family. The disease is transmitted as an autosomal recessive trait.	Preferred (foundation metadata concept)
A lysosomal storage disease, belonging to the group of oligosaccharidosis or with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease with characteristics of gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II (see this term) the more severe, early onset form, with characteristics of progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations.	Preferred (foundation metadata concept)
A macroscopic waste clearance system that utilises a unique system of perivascular channels, formed by astroglial cells, to promote efficient elimination of soluble proteins and metabolites from the central nervous system.	Preferred (foundation metadata concept)
A male with two or more X chromosomes.	Preferred (foundation metadata concept)
A malformation disorder with characteristics of complete or incomplete absence of nose, choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	Preferred (foundation metadata concept)
A malformation disorder with characteristics of sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant.	Preferred (foundation metadata concept)
A malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs. The syndrome has characteristics of mild facial asymmetry with unaffected neurocranium and eyeballs, along with esotropia, amblyopia and/or convergent strabismus and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979.	Preferred (foundation metadata concept)
A malformation syndrome with the combination of bilateral coloboma of macula, horizontal pendular nystagmus, severe visual loss and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails, broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Inherited in a dominant manner.	Preferred (foundation metadata concept)
A malformative syndrome due to the teratogenic effect of mycophenolate mofetil (MMF), an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation. To date the majority of cases have been offspring of women who received a solid organ transplant. The newborn or fetus generally has external ear anomalies. Cleft lip-palate with micrognathia is frequently observed. Aberrant orofacial cleft has been observed in one case. Ocular anomalies, such as microphthalmia and iris or chorioretinal coloboma are also frequent. Distal limbs anomalies as well as congenital malformations of the heart, kidneys and/or central nervous system may also be observed.	Preferred (foundation metadata concept)
A malignant tumour of the prostate with an early onset. Is either asymptomatic or causes symptoms on micturition, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterised by familial antecedents.	Preferred (foundation metadata concept)
A manipulation done by a chiropractor	Preferred (foundation metadata concept)
A manipulation done by a physiatrist	Preferred (foundation metadata concept)
A manipulative technique in which the goal of treatment is to balance the tension in opposing ligaments where there is abnormal tension present.	Preferred (foundation metadata concept)
A manipulative treatment in which the restrictive barrier is disengaged and the dysfunctional body part is moved away from the restrictive barrier.	Preferred (foundation metadata concept)
A manufactured skin graft consisting of an outer epidermal layer and/or a dermal layer embedded into an acellular matrix or dermal template forming a biological skin substitute either grown from the patient's own cells, or from other allogeneic or xenogeneic sources, and/or synthetic materials, for example, silicone graft, or combined sources.	Preferred (foundation metadata concept)
A mass	Acceptable (foundation metadata concept)
A meal plan that offers comparable carbohydrate content from day to day at all meals and snacks. Not based on a set number of calories; intended to meet individuals' nutritional needs and facilitate improved metabolic control.	Preferred (foundation metadata concept)
A measure of the difference in the systolic blood pressure of the arm and toe calculated by dividing the blood pressure of the toe by that of the arm	Preferred (foundation metadata concept)
A measure of the slope of the occlusal plane on the left to the Frankfort horizontal in degrees, related to tooth eruption.	Preferred (foundation metadata concept)
A measure of the slope of the occlusal plane on the right to the Frankfort horizontal in degrees, related to tooth eruption.	Preferred (foundation metadata concept)
A measurement of the occlusal plane to the Frankfort horizontal plane.	Preferred (foundation metadata concept)
A measurement or adjustment of a device or biologic material to the right shape or size so as to conform correctly when introduced or transplanted	Preferred (foundation metadata concept)
A medical audit of ancillary services (such as physical therapy, dietary)	Preferred (foundation metadata concept)
A medical audit of direct care providers	Preferred (foundation metadata concept)
A medical certificate or doctor's note is a written statement from a physician or other medically qualified health care provider which attests to the result of a medical examination of a patient.	Preferred (foundation metadata concept)
A medical practitioner whose practice is limited to the care of patients in a hospital emergency department.	Preferred (foundation metadata concept)
A medication regime which is complicated to manage. For example, one that involves multiple medications or a single medication with a complex regime e.g. insulin.	Preferred (foundation metadata concept)
A meningeal route that begins within the dura.	Preferred (foundation metadata concept)
A meningeal route that begins within the space surrounding the dura mater of the spinal cord.	Preferred (foundation metadata concept)
A meningeal route that begins within the space surrounding the dura mater within the epidural space.	Preferred (foundation metadata concept)
A metal alloy that forms an outer mesh structure with an inner polymer tube.	Preferred (foundation metadata concept)
A method of administration of a dose form as tiny drops or fine powder.	Preferred (foundation metadata concept)
A method of administration of a dose form by a parenteral route.	Preferred (foundation metadata concept)
A method of administration of a dose form by being placed into a body cavity.	Preferred (foundation metadata concept)
A method of administration of a dose form by being placed within a tissue of the body.	Preferred (foundation metadata concept)
A method of administration of a dose form by blowing it into a body cavity.	Preferred (foundation metadata concept)
A method of administration of a dose form by chewing or biting prior to allowing to pass down the throat.	Preferred (foundation metadata concept)
A method of administration of a dose form by dispensing.	Preferred (foundation metadata concept)
A method of administration of a dose form by placing it in the mouth and allowing it to dissipate; the product is usually then swallowed.	Preferred (foundation metadata concept)
A method of administration of a dose form by placing or spreading on a body surface.	Preferred (foundation metadata concept)
A method of administration of a dose form by taking into the mouth and allowing to pass down the throat.	Preferred (foundation metadata concept)
A method of administration of a dose form by using the tongue and muscles of the mouth to dissolve it.	Preferred (foundation metadata concept)
A method of administration of a dose form gradually, possibly drop by drop.	Preferred (foundation metadata concept)
A method of administration of a dose form into the respiratory tract by breathing, sucking or sniffing.	Preferred (foundation metadata concept)
A method of administration of a liquid dose form by flushing it through or flow over a body area.	Preferred (foundation metadata concept)
A method of administration of a liquid dose form by flushing it through, flowing it over, or cleansing a body area.	Preferred (foundation metadata concept)
A method of administration of a liquid dose form by introducing it into the circulatory system or into a body cavity.	Preferred (foundation metadata concept)
A method of administration of a liquid dose form by rinsing the oropharyngeal area with the head held back and breath expired to produce a bubbling.	Preferred (foundation metadata concept)
A microdeletion occurring on the short (p) arm of chromosome 16 at a location designated p12.2. Common characteristics of this disease include developmental delay, delayed speech, intellectual disability, hypotonia, short stature, microcephaly, cardiac malformations, recurrent epilepsy, psychiatric and behavioural problems. Manifestations vary even among affected members of the same family. Inherited in an autosomal dominant pattern with incomplete penetrance, in almost all known cases the chromosomal change has been inherited from a parent	Preferred (foundation metadata concept)
A microdeletion syndrome resulting from a partial deletion of the chromosome X. The phenotype is highly variable (depending on length of deletion), but main manifestations include X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated.	Preferred (foundation metadata concept)
A mid-life onset distal myopathy with characteristics of tibialis anterior weakness and progressive respiratory muscle involvement present from the onset of the disease. It has been described in three generations of a family (11 patients). Transmission is autosomal dominant and an anticipation phenomenon is suspected. No genes have yet been identified.	Preferred (foundation metadata concept)
A mid-to-late diastolic murmur heard best at the cardiac apex, heard in cases of aortic insufficiency	Preferred (foundation metadata concept)
A mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with characteristics of distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow.	Preferred (foundation metadata concept)
A mild form of familial adenomatous polyposis with main features described as the presence of fewer than 100 adenomatous polyposis, a more proximal colonic location, a delayed age of colorectal cancer onset and a more limited expression of the extracolonic features.	Preferred (foundation metadata concept)
A mild form of familial primary hypomagnesaemia characterised by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed. Only one large pedigree with 18 affected individuals has been reported in the literature. Caused by mutations in the FXYD2 gene (11q23; mutation p.Gly41Arg) which encodes the gamma subunit of the Na+/K+-ATPase, localised on the basolateral membranes of nephron epithelial cells and expressed in the distal convoluted tubule. Transmission is autosomal dominant.	Preferred (foundation metadata concept)
A mild form of limb girdle muscular dystrophy that has characteristics of limb-girdle weakness, marked proximal amyotrophy and abolished myotatic reflexes, associated with progressive fingers and toes flexion limitation.	Preferred (foundation metadata concept)
A mild form of limb-girdle muscular dystrophy with characteristics of muscle weakness in the four limbs, mild scapular winging, severe atrophy of the quadriceps and anterior tibialis muscles, calf hypertrophy and lack of respiratory and cardiac involvement.	Preferred (foundation metadata concept)
A mild localised form of skeletal dysplasia characterised by delayed, irregular ossification of femoral capital epiphysis. Clinical manifestations may include a waddling gait, genu valgum, hip pain and restricted movement, although these manifestations are usually transient and the majority of patients are asymptomatic.	Preferred (foundation metadata concept)
A mild to severe congenital X-linked developmental disorder with hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. Primarily affects males. Affected males have varying degrees of hydrocephalus ranging from subclinical to severe. Intellectual deficit ranges from mild to severe. Adducted thumbs are a characteristic feature of the syndrome, present in about 50% of cases. Caused by mutations in the L1CAM gene (Xq28) encoding the L1 cell adhesion molecule that is expressed mainly in the developing nervous system. Inherited in an X-linked manner.	Preferred (foundation metadata concept)
A minor trait of the lip transmitted in an autosomal dominant fashion. It has been described through several generations from three families in Japan. In all cases the nodule was asymptomatic and strictly isolated.	Preferred (foundation metadata concept)
A minor variant of autosomal recessive congenital ichthyosis with manifestation of a collodion membrane at birth that heals within the first weeks of life. The exact prevalence is unknown. Approximately 25 cases have been reported in the literature. After the shedding of the membrane, patients present with mild scaling. Caused by mutations in the TGM1, ALOXE3 or ALOX12B genes encoding respectively transglutaminase 1, involved in the cornification of the stratum corneum, and arachidonate 3 and 12(R) lipoxygenases involved in lipid metabolism. Transmission is autosomal recessive.	Preferred (foundation metadata concept)

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Reference Sets

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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)