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 congenital disorder characterised by nonprogressive cerebellar ataxia, associated with a moderate to profound intellectual disability and delayed ambulation. Gait can be either bipedal or quadrupedal. Additional features include hypotonia, lack of coordination, delayed motor development, seizures, dysarthria, strabismus, short stature, and pes planus. Aetiological subtypes have been reported and include type 1 (CAMRQ1), 2 (CAMRQ2), 3 (CAMRQ3) and 4 (CAMRQ4) which are attributed to mutations in VLDLR (9p24), CA8 (8q12.1), WDR81 (17p13.3) and ATP8A2 (13q12) genes, respectively. Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A congenital disorder of craniofacial development with characteristics of bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. The syndrome is caused by mutations in the TCOF1 gene (5q32) encoding the nucleolar phosphoprotein Treacle or in the POLR1C (6p21.1) or POLR1D (13q12.2) genes, coding for RNA polymerase I and III subunits. Transmission is autosomal dominant with 90% penetrance and variable expressivity, even among affected patients within the same family. Mutations in POLR1C gene are inherited in autosomal recessive manner.	Preferred (foundation metadata concept)
A congenital disorder of glycosylation with characteristics of macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.	Preferred (foundation metadata concept)
A congenital disorder of glycosylation with characteristics of severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum). Caused by hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.	Preferred (foundation metadata concept)
A congenital hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 with characteristics of Dejerine-Sottas syndrome-like phenotype (including hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical Charcot-Marie-Tooth phenotype, for example distal muscle weakness and atrophy, sensory loss, and foot deformity.	Preferred (foundation metadata concept)
A congenital intermediate sized melanocytic naevus has a diameter between 1.5 and 20 cm	Preferred (foundation metadata concept)
A congenital malformation characterised by shortening of the middle phalanx of the fifth finger. Inherited as an autosomal dominant trait.	Preferred (foundation metadata concept)
A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait.	Preferred (foundation metadata concept)
A congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs. Fewer than 30 cases have been described, the majority of cases occurred in related families. The syndrome affects both the upper and lower limbs but, in general, the latter are less severely affected. Associated malformations (renal hypoplasia and vertebral and hemi-vertebral anomalies) have occasionally been reported. Mild facial dysmorphism has been described in isolated cases. The disease is transmitted as an autosomal recessive trait. Homozygous or compound heterozygous mutations of the LRP4 gene (11p12-p11.2) have been identified.	Preferred (foundation metadata concept)
A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.	Preferred (foundation metadata concept)
A congenital malformation with characteristics of shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and sometimes of the little finger. Only a few cases have been reported in the literature. Affected individuals have a triangular shaped middle phalanx of the index fingers and in severely affected cases the index finger is curved radially. Can be caused by mutations in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11.	Preferred (foundation metadata concept)
A congenital melanocytic naevus with a projected or final adult maximal diameter of less than 15 mm.	Preferred (foundation metadata concept)
A congenital non-syndromic limb malformation with the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hyperphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies.	Preferred (foundation metadata concept)
A congenital vascular bone syndrome with the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb. The affected limb may show overgrowth in comparison with the contralateral limb and the extent of this limb length discrepancy may vary from a slight difference to 10cm or more. The growth effect may be manifested in only one bone (mainly the femur or tibia) or, in some cases, affect the whole limb. The existence of arteriovenous fistulas around or inside the bone is now being widely accepted as the main cause of bone overgrowth. Although the syndrome generally appears to be sporadic, autosomal dominant inheritance has been noted in a few families.	Preferred (foundation metadata concept)
A consolidation of the previous health records of a patient.	Preferred (foundation metadata concept)
A constitutional microcytic, hypochromic anaemia of varying severity that is clinically characterised by manifestations of anaemia and iron overload and that may respond to treatment with pyridoxine and folic acid.	Preferred (foundation metadata concept)
A construction of a shunt using either biologic or synthetic material	Preferred (foundation metadata concept)
A construction of an abnormal passage between a cavity or hollow organ and the surface of the body.	Preferred (foundation metadata concept)
A construction of an alternate route of passage of a bodily substance	Preferred (foundation metadata concept)
A construction of an opening between two hollow structures, organs, or spaces, be they real or artificial	Preferred (foundation metadata concept)
A construction of openings or fenestrae	Preferred (foundation metadata concept)
A contiguous gene syndrome comprising otodental syndrome (globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities typically including iris and chorioretinal coloboma and sometimes microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.	Preferred (foundation metadata concept)
A contiguous gene syndrome with characteristics of the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism. It has been described in 8 patients to date. Common dysmorphic features include micrognathia, microcephaly, preauricular pits, high-arched palate and abnormal ears. All patients except one have intellectual deficit. The syndrome is caused by deletions of the proximal part of the short arm of chromosome 8 (8p11.1 to 8p21). The deletions can be cytogenetically detected and their size is variable. The loss of the ankyrin-1 gene (ANK1) results in congenital spherocytosis.	Preferred (foundation metadata concept)
A continuation of the aortic plexus that leads to the right and left hypogastric nerves	Preferred (foundation metadata concept)
A continuous or cluster of generalised absence epileptic seizures of more than 10 minutes duration from which the individual does not return to normal between seizures.	Preferred (foundation metadata concept)
A continuous or cluster of generalised atypical absence epileptic seizures of more than 10 minutes duration from which the individual does not return to baseline between seizures.	Preferred (foundation metadata concept)
A continuous or cluster of generalised typical absence epileptic seizures of more than 10 minutes duration from which the individual does not return to normal between seizures.	Preferred (foundation metadata concept)
A coronal imaging plane with the transducer at the cardiac apex which includes the left ventricle, left atrium, right ventricle and right atrium.	Preferred (foundation metadata concept)
A corrected, mirrored, photographic image that has been flipped horizontally to identify the proper occlusal view of the teeth.	Preferred (foundation metadata concept)
A corrected, mirrored, visible image that is flipped horizontally and vertically to properly represent the occlusal view of the teeth when viewing from the front of the patient.	Preferred (foundation metadata concept)
A cranial malformation with characteristics of facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis. An autosomal recessive mode of inheritance has been suggested.	Preferred (foundation metadata concept)
A cranial technique in which the lateral angles of the occipital squama are manually approximated slightly exaggerating the posterior convexity of the occiput and taking the cranium into sustained extension.	Preferred (foundation metadata concept)
A cut or tear to an internal structure without a communication with the outside of the body. Note that this is does not refer to a laceration that has been repaired by a closure technique.	Preferred (foundation metadata concept)
A cyst composed of maxillary sinus epithelium along a surgical line of entry	Preferred (foundation metadata concept)
A decrease in bone mineral density with a T-score via DEXA (dual-energy X-ray absorptiometry) bone scan between -1 and -2.5.	Preferred (foundation metadata concept)
A decrease in bone mineral density with a T-score via DEXA (dual-energy X-ray absorptiometry) bone scan of less than -2.5.	Preferred (foundation metadata concept)
A decrease in lower leg circumference due to recurrent ulceration and fat necrosis causing loss of subcutaneous tissue in a patient with venous stasis disease.	Preferred (foundation metadata concept)
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Preferred (foundation metadata concept)
A deep overbite resulting in the mandibular teeth impinging on and stripping the oral mucosa from the lingual of the maxillary teeth.	Preferred (foundation metadata concept)
A degenerative brain disease linked to a history of repetitive head impacts such as those experienced in contact and collision sports or combat military service.	Preferred (foundation metadata concept)
A degenerative corneal disorder characterised by the association of congenital hereditary endothelial dystrophy with progressive postlingual sensorineural hearing loss. The ocular manifestations include diffuse bilateral corneal oedema occurring with severe corneal clouding, blurred vision, visual loss and nystagmus. Caused by mutations in the SLC4A11 gene located at the CHED2 locus on chromosome 20p13p12.	Preferred (foundation metadata concept)
A deletion of the long (q) arm of chromosome 18 near one end of the chromosome. Manifestations of this disorder are varied and can commonly include short stature, hypotonia, hearing loss, clubfoot or rocker-bottom feet, eye movement disorders and other vision problems, cleft palate, hypothyroidism, congenital heart defects, kidney problems, genital and skin abnormalities. Most cases are the result of a de novo deletion and are not inherited.	Preferred (foundation metadata concept)
A deletion typically less than 50 base pairs on a single locus.	Preferred (foundation metadata concept)
A delusion of infestation of the skin by parasites. Most commonly reported as consisting of bugs or insects biting and crawling on or under the skin. The experience of the sensation of formication, a form of tactile hallucination, may accompany the delusion.	Preferred (foundation metadata concept)
A demyelinating polyneuropathy characterised clinically by sensory ataxia, tremor, paraesthesia, and impaired gait.	Preferred (foundation metadata concept)
A denervation done using chemicals	Preferred (foundation metadata concept)
A dental route that begins around a tooth.	Preferred (foundation metadata concept)
A dental route that begins within a portion of a tooth which is covered by enamel and which is separated from the roots by a slightly constricted region known as the neck.	Preferred (foundation metadata concept)
A depression of the anterior surface of the vitreous body where the lens fits	Preferred (foundation metadata concept)
A dermatosis with pruritic sterile papules and pustules that come together to form plaques with papulovesicular borders, and a tendency toward central clearing and hyperpigmentation, with spontaneous exacerbations and remissions. Histologically variable with folliculitis of follicle sheath and perifollicular dermis and spongiosis of follicular epithelium, sometimes with peripheral leukocytosis and or eosinophilia and or eosinophilic abscesses.	Preferred (foundation metadata concept)
A description that does not represent the same meaning as the concept's Fully Specified Name. For example, descriptions that are broader than, narrower than, or different to the Fully Specified Name.	Preferred (foundation metadata concept)
A destruction achieved by turning a solid into an emulsion	Preferred (foundation metadata concept)
A destruction done by injurious pressure. Note that this pressure can be mechanical, as in squeezing between two hard bodies, or can be a pressure wave, as is used to crush internal stones.	Preferred (foundation metadata concept)
A destruction of a natural space or lumen by induced fibrosis or inflammation	Preferred (foundation metadata concept)
A destruction of tissue by burning or searing with a thermal instrument, an electric current, or a caustic substance.	Preferred (foundation metadata concept)
A destruction of tissue by means that results in condensation of protein material	Preferred (foundation metadata concept)
A destruction that purposefully results in a fracture of bone	Preferred (foundation metadata concept)
A developmental anomaly syndrome with characteristics of coloboma of the iris and optic nerve, facial dysmorphism (high forehead, micro retrognathia, low-set ears) intellectual deficit, agenesis of the corpus callosum, sensorineural hearing loss, skeletal anomalies and short stature. Caused by mutation in the IGBP1 gene.	Preferred (foundation metadata concept)
A developmental anomaly with characteristics as birth of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968.	Preferred (foundation metadata concept)
A developmental anomaly with characteristics of brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). This anomaly has been described in a mother and her son and there have been no further descriptions in the literature since 1986.	Preferred (foundation metadata concept)
A developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the internal carotid artery, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients.	Preferred (foundation metadata concept)
A developmental disorder characterised by keratotic papules of skin of hands and soles with disorganisation of dermal elastic fibres that does not appear to be due to trauma or sunlight.	Preferred (foundation metadata concept)
A developmental disorder characterised by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.	Preferred (foundation metadata concept)
A diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures.	Preferred (foundation metadata concept)
A diet composed of foods and/or fluids which are in a liquid state.	Preferred (foundation metadata concept)
A diet devoid of beef and beef ingredients.	Preferred (foundation metadata concept)
A diet devoid of cow milk and cow milk ingredients.	Preferred (foundation metadata concept)
A diet devoid of egg and egg ingredients.	Preferred (foundation metadata concept)
A diet devoid of fish and fish ingredients.	Preferred (foundation metadata concept)
A diet devoid of goat milk and goat milk ingredients.	Preferred (foundation metadata concept)
A diet devoid of lupin and lupin ingredients.	Preferred (foundation metadata concept)
A diet devoid of mammalian meat and mammalian meat ingredients.	Preferred (foundation metadata concept)
A diet devoid of mammalian milk and mammalian milk ingredients.	Preferred (foundation metadata concept)
A diet devoid of peanut and peanut ingredients.	Preferred (foundation metadata concept)
A diet devoid of pork and pork ingredients.	Preferred (foundation metadata concept)
A diet devoid of sesame and sesame ingredients.	Preferred (foundation metadata concept)
A diet devoid of sheep milk and sheep milk ingredients.	Preferred (foundation metadata concept)
A diet devoid of shellfish and shellfish ingredients.	Preferred (foundation metadata concept)
A diet devoid of soy and soy ingredients.	Preferred (foundation metadata concept)
A diet devoid of the stimulant caffeine.	Preferred (foundation metadata concept)
A diet devoid of tree nut and tree nut ingredients.	Preferred (foundation metadata concept)
A diet for a subject of the Islamic faith and includes only foods considered acceptable. Foods not acceptable include pork, pork products, alcohol as well as other nonapproved food and food ingredients.	Preferred (foundation metadata concept)
A diet of minimally processed plant food with the majority of intake from vegetables, whole grains, fruits, extra virgin olive oil, legumes, nuts, seeds, and herbs, and dairy products (principally yoghurt and cheese); moderate intake of fish and seafood; moderate to low intake of poultry; zero to four eggs per week; and low intake of red meat and discretionary foods, such as, sweets and sugar-sweetened beverages.	Preferred (foundation metadata concept)
A diet that is low in organisms (e.g. bacteria, viruses, fungi, parasites) because the organisms might pose a health threat.	Preferred (foundation metadata concept)
A diet where the number of grams of carbohydrate are identified for each meal and overall per day.	Preferred (foundation metadata concept)
A diet which meets current professional recommendations of a healthy eating pattern.	Preferred (foundation metadata concept)
A diet with a lower or higher amount of fermentable oligosaccharides, disaccharides, monosaccharides and polyols in the diet.	Preferred (foundation metadata concept)
A diet with a reduced amount of fermentable oligosaccharides, disaccharides, monosaccharides and polyols in the diet.	Preferred (foundation metadata concept)
A diet with an overall lower amount of FODMAP (fermentable oligosaccharides, disaccharides, and monosaccharides and polyols) but with reintroduction of these to assess tolerance of individual foods.	Preferred (foundation metadata concept)
A diet with an overall lower amount of fermentable oligosaccharides, disaccharides, monosaccharides and polyols but permits a range of FODMAP (fermentable oligosaccharide, disaccharide, monosaccharide and polyol) containing foods based on the subject's diet tolerance.	Preferred (foundation metadata concept)
A difference in the height of the marginal edges of adjacent teeth.	Preferred (foundation metadata concept)
A difficult or dangerous health situation that needs urgent attention.	Preferred (foundation metadata concept)
A digestive tract route that begins in the gastrointestinal tract (from the upper oesophagus through the rectum).	Preferred (foundation metadata concept)
A digestive tract route that begins in the intestine (from the duodenum through the colon).	Preferred (foundation metadata concept)
A digestive tract route that begins in the mouth.	Preferred (foundation metadata concept)
A dilation and a stretching	Preferred (foundation metadata concept)
A dilation and stretching done by manipulation	Preferred (foundation metadata concept)
A dilation done with a bougie	Preferred (foundation metadata concept)
A direct photographic image of the anterior teeth.	Preferred (foundation metadata concept)
A direct photographic image of the face of a patient with the lips in a relaxed position.	Preferred (foundation metadata concept)
A directive, client-centred nutrition counselling style for eliciting behaviour change by helping clients to explore and resolve ambivalence.	Preferred (foundation metadata concept)

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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)