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 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 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 cutaneous disorder with characteristics of the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder. Prevalence is unknown, but the disease appears to be extremely rare. The macules may appear in infancy, but usually they are detected after 2 years of age. Close linkage to the NF1 gene (17q11.2) has been reported in some cases. Transmission is autosomal dominant.	Preferred (foundation metadata concept)
A cyst composed of maxillary sinus epithelium along a surgical line of entry	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 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 that resembles aminopterin embryopathy without history of exposure in utero to aminopterin. Main features include craniosynostosis, dysmorphic features including ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears.Limb anomalies include brachydactyly, syndactyly and clinodactyly. Also associated with mild-to-moderate intellectual deficit and short stature.	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 defect with manifestation of variable intramembranous ossification defects of the parietal bones, which is asymptomatic, symptomatic or associated with other pathologies. A congenital disorder caused by insufficient ossification around the parietal notch. In most cases this results from heterozygous loss of function mutations in human homeobox genes, MSX2 (5q35.2) and ALX4 (11p11.2), which encode transcription factors involved in skeletal development. Transmission is autosomal dominant with high but incomplete penetrance.	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 of the eye with manifestation of unilateral or bilateral microphthalmia associated with ocular coloboma.	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 diffuse palmoplantar keratoderma with manifestation of honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness.Follows an autosomal dominant mode of transmission.	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)
A disease associated with faster than normal growth before and after birth, intellectual disability, characteristic facial features including round face, thick horizontal eyebrows, narrowed palpebral fissures. Macrocephaly may also be present along with features of autism spectrum disorder. Other associated signs include kyphoscoliosis, heart defects, pes planus, hypotonia, hypermobile joints depression, anxiety, obsessive-compulsive disorder. Caused by mutation in the DNMT3A gene, which provides instructions for making the enzyme DNA methyltransferase 3 alpha. This condition is inherited in an autosomal dominant pattern, however some cases result from new mutations in the gene and occur in people with no history of the disorder in their family.	Preferred (foundation metadata concept)
A disintegrin and metalloproteinase with thrombospondin type 1 motif 13 deficiency	Acceptable (foundation metadata concept)
A disintegrin and metalloproteinase with thrombospondin type 1 motif 13 deficiency (ADAMTS13)	Preferred (foundation metadata concept)
A disintegrin and metalloproteinase with thrombospondin type 1 motif 13 deficiency (disorder)	Preferred (foundation metadata concept)
A disorder belonging to the group of oromandibular-limb hypogenesis syndromes with the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge. The syndrome is very rare with less than 30 cases reported in the literature so far. Associated anomalies include cleft palate (in which case the tongue may be attached to the nasal septum), mandibular hypoplasia, upper-lip hypoplasia, hypodontia and variable limb anomalies (oligodactyly, syndactyly and polydactyly as well as more severe limb malformations). The syndrome appears to be sporadic.	Preferred (foundation metadata concept)
A disorder characterised by a decline primarily in intellectual function due to disease of the brain caused by a variety of acquired conditions such as cerebrovascular disease, Alzheimer's disease, infections, adverse drug reactions and trauma.	Preferred (foundation metadata concept)
A disorder characterised by inflammation of both the brain and the spinal cord.	Preferred (foundation metadata concept)
A disorder characterised by recurrent seizures.	Preferred (foundation metadata concept)
A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder.	Preferred (foundation metadata concept)
A disorder in which there is abnormal electrical activity in the heart.	Preferred (foundation metadata concept)
A disorder of glyoxylate metabolism that can be asymptomatic or have manifestation of oxalate nephrolithiasis. This disease has a less severe course that primary hyperoxaluria type 1 or type 2, and may be silent or limited to stone formation, sometimes even improving over time. While hyperoxaluria persists in primary hyperoxaluria type 3, nephrocalcinosis and chronic kidney failure are uncommon and systemic involvement has not been reported so far. Caused by mutations in the 4-hydroxy-2-oxoglutarate aldolase 1 (HOGA1) gene located to 10q24.1. Transmission is autosomal recessive	Preferred (foundation metadata concept)
A disorder of joint(s) caused by the presence of an infectious agent in the joint(s).	Preferred (foundation metadata concept)
A disorder of lipid absorption and transport characterised by steatorrhoea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990.	Preferred (foundation metadata concept)
A disorder of red cell membrane permeability to monovalent cations and is characterised clinically by haemolytic anaemia. Very rare with only seven cases described in the literature so far. Onset occurs during the neonatal period or infancy with haemolytic anaemia that may require occasional blood transfusions. Splenomegaly or hepatosplenomegaly are present. The disease course is marked by the usual complications of haemolytic anaemia (biliary lithiasis) and, remarkably, by a strong tendency for iron overload. In the majority of cases, the disease it caused by mutations in the RHAG gene (6p21-qter) encoding the Rh-associated glycoprotein component of the Rh complex.	Preferred (foundation metadata concept)
A disorder of sex development associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype. The disorder is heterogeneous and associated with partial abnormality of both Leydig cell and Sertoli cell function that may result from deletions or point mutations in the SRY gene or dose sensitive sex (NR0B1) locus duplication on the X chromosome. More important are mutations in steroidogenic factor 1 (SF1, NR5A1, Ad4BP). SF-1 is a nuclear receptor and regulator of multiple genes involved in adrenal and gonadal development, steroidogenesis, and the reproductive axis. Therefore, affected patients may also have adrenal insufficiency. Syndromic forms have been associated with WT-1 mutations, which lead to variable testicular dysgenesis and an increased risk of renal abnormalities, namely Wilms tumours or nephrotic syndrome.	Preferred (foundation metadata concept)
A disorder of the nervous system white matter and myelin resulting in hypomyelination and in some cases also demyelination. There are different combinations of signs and symptoms of the disease, at the most severe end of the spectrum is hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). At the mildest end is isolated hypomyelination. The features in other individuals with TUBB4A-related leukodystrophy fall in between these two extremes. The disease is caused by mutations in the TUBB4A gene, which provides instructions for making a protein called beta-tubulin. Inherited in an autosomal dominant pattern however most cases are the result of de novo mutations in the gene.	Preferred (foundation metadata concept)
A disorder of the skeletal muscles with childhood onset of myotonia. The myotonia most often occurs in the legs and can interfere with movement. There are two major forms of this disease Thomsen disease and Becker disease. These conditions are distinguished by the severity of their symptoms and their patterns of inheritance. The disease is caused by mutations in the CLCN1 gene. Mutations in this gene alter the usual structure or function of chloride channels. This disruption in chloride ion flow triggers prolonged muscle contractions.	Preferred (foundation metadata concept)
A disorder of the skin and immune system with initial manifestation of a bumpy skin rash usually between the ages of 6 and 12 months, gradually spreading from the arms and legs to the torso and face. At about age 2, the rash fades leaving hyperpigmentation and hypopigmentation and telangiectases, this combination is known as poikiloderma. Palmoplantar keratoderma, calcinosis cutis, skin ulcers, pachyonychia, fragile teeth and low bone density may also be present. Chronic neutropenia is present resulting in recurrent sinus infections and pneumonia, especially in the first few years of life. Caused by mutations in the USB1 gene.	Preferred (foundation metadata concept)
A disorder of the superior trunk of the brachial plexus or the fifth and sixth cervical spinal nerves or motor roots, resulting in weakness of proximal upper extremity musculature innervated by these nerve roots	Preferred (foundation metadata concept)
A disorder of the white matter of the brain causing neurological problems, which can occur, anytime from childhood to adulthood. Characteristics of the disease include learning disabilities, retinopathy, atrophy of the optic nerves, spasticity, infertility in males, vertigo, tinnitus, hearing loss, paroxysmal kinesigenic dyskinesia and psychiatric disorders. In affected individuals, myelin becomes oedematous causing impaired nerve impulse transmission. Caused by mutations in the CLCN2 gene. Inherited in an autosomal recessive pattern.	Preferred (foundation metadata concept)
A disorder that affects the ability to break down lipids leading to increased amounts of triglycerides and cholesterol in the blood. Caused by mutations in the lipase C hepatic type (LIPC) gene. This gene provides instructions for making hepatic lipase. LIPC gene mutations prevent the release of hepatic lipase from the liver or decrease the enzyme's activity in the bloodstream. As a result very low-density lipoproteins and intermediate-density lipoproteins are not efficiently converted into LDLs, and HDLs carrying cholesterol and triglyceride remain in the bloodstream. It is unclear what effect this change in lipid levels has on people with hepatic lipase deficiency.	Preferred (foundation metadata concept)
A disorder that affects the myocardial ion channels, altering the electrical properties of the heart and changing the ECG and/or predisposing the subject to pro-arrhythmic events.	Preferred (foundation metadata concept)
A disorder that follows infection but is distinct from the infection itself and its usual manifestations	Preferred (foundation metadata concept)
A disorder which is not a natural consequence or progression of any pre-existing disorder, resulting from a diagnostic procedure or any form of therapy that is not an intended or expected outcome of its use.	Preferred (foundation metadata concept)
A disorder which occurs during cataract surgery following administration at some time in the past (potentially years) of a substance with alpha-1 adrenergic receptor antagonist mechanism of action. Progressive pupil constriction is seen together with a flaccid iris that billows and prolapses towards the surgical incision.	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)