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


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

Descriptions:

Id Description Lang Type Status Case? Module
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)


1315772 members. Search Members:

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 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 disease caused by monosodium urate crystal deposition with any of the following clinical presentations (current or prior): gout flare, chronic gouty arthritis, or subcutaneous tophus. Preferred (foundation metadata concept)
A disease of the brain characterised by an enduring predisposition to generate epileptic seizures. 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 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 the presence of RPE (retinal pigment epithelium) disruption within the posterior pole over regions of choroidal thickening in eyes, showing no evidence of active or prior CSC (central serous chorioretinopathy). Preferred (foundation metadata concept)
A disorder defined as retinal pigment disturbances including hypopigmentation and hyperpigmentation in colour fundus photographs that typically corresponded to hyperfluorescence and hypofluorescence in fluorescein angiogram images within or overlapping areas previously occupied by CNV (choroidal neovascularisation). Preferred (foundation metadata concept)
A disorder in which a caregiver deliberately exaggerates, fabricates, or induces physical, psychological, or behavioural health problems in another person, typically someone under their care, such as a child, elderly adult, or an individual with a disability. This behaviour is driven by a psychological need in the caregiver to gain attention and sympathy by having others (the person under their care) seen as ill or injured. Preferred (foundation metadata concept)
A disorder in which an individual deliberately and intentionally feigns, falsifies or exaggerates symptoms of illness in themselves for the primary purpose of assuming the sick role and to gain medical attention, without obvious external incentives for such behaviour. 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 (DSD) characterised by the presence of female external genitalia, ambiguous genitalia or variable defects in virilisation in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS). Preferred (foundation metadata concept)
A disorder of sex development (DSD) distinct from complete androgen insensitivity syndrome (CAIS) characterised by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. The condition is due to missense mutations in the androgen receptor (AR) gene (Xq11-12) coding for the AR nuclear transcription factor, and results in variable degrees of AR function. The condition is X-linked recessive. 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 that is due to increased acid bile synthesis is an intestinal disease of unknown aetiology characterised by an overproduction of bile acids which leads to chronic watery diarrhoea. 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)
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 administered within a healthcare system. 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. Preferred (foundation metadata concept)
A disposition pertaining to the pathogenesis of a disease or illness Preferred (foundation metadata concept)
A distal myopathy with characteristics of weakness in the distal upper extremities usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremities primarily in toe and ankle extensors. This disease is mainly restricted to a geographical area around the Baltic Sea and is a late adult-onset disorder. Caused by a missense change (c.1362G>A; p.E384K) in TIA1 gene (2p13) which encodes nucleolysin TIA-1 isoform p40, a key component of stress granules. Inherited as an autosomal dominant trait. Preferred (foundation metadata concept)
A distal placement of the mandibular molar, a mesial relationship of the maxillary, or a combination of the two. The mesiobuccal cusp of the maxillary first molar occludes mesial to the buccal groove of the mandibular first molar, usually near the embrasure between the mandibular molar and second premolar. Subdivision of any malocclusion category denotes a unilateral malocclusion classification. Preferred (foundation metadata concept)
A distinct form of Crouzon disease associated with acanthosis nigricans caused by a specific mutation (p.Ala391Glu) in the transmembrane domain of FGFR3. The disease is transmitted in an autosomal dominant manner with variable penetrance. Preferred (foundation metadata concept)
A distinct form of acute myeloid leukaemia in which this chromosomal anomaly is found de novo or in therapy-related cases. The disease is characterised by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed. Preferred (foundation metadata concept)
A distinct sub-group of genetic generalised epilepsy that includes only four epilepsy syndromes: childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, and epilepsy with generalised tonic-clonic seizures alone. Preferred (foundation metadata concept)
A diverse group of techniques designed to remove impediments to lymphatic circulation and promote and augment the flow of interstitial fluid and lymph. Preferred (foundation metadata concept)
A division made transversely across a long axis Preferred (foundation metadata concept)
A dose form that displays properties between those of a liquid and those of a solid. Preferred (foundation metadata concept)
A dose form that displays properties of a gas. Preferred (foundation metadata concept)
A dose form that displays properties of a liquid. Preferred (foundation metadata concept)
A dose form that displays properties of a solid. Preferred (foundation metadata concept)
A dose form that is an assembly of components for intrauterine delivery driven by external forces. Preferred (foundation metadata concept)
A dose form that is an assembly of components for transdermal delivery driven by external forces. Preferred (foundation metadata concept)
A dose form transformation that occurs immediately before administration, often when the dose form is subjected to heat either directly or by addition to hot water to create the vapour. Preferred (foundation metadata concept)
A dose form transformation that occurs when a solid dose form is mixed with a suitable liquid to create a solution. This may occur as part of the dispensing act or immediately before administration. Preferred (foundation metadata concept)
A dose form transformation that occurs when a solid or liquid dose form is mixed with a suitable liquid to create a suspension or when a solid dose form is mixed with a suitable liquid to create a solution. This may occur as part of the dispensing act or immediately before administration. Preferred (foundation metadata concept)
A dose form transformation that occurs when a solid or liquid dose form is mixed with a suitable liquid to create a suspension. This may occur as part of the dispensing act or immediately before administration. Preferred (foundation metadata concept)
A drug hypersensitivity reaction with a relatively long latency period after exposure characterised by rash, fever, lymphadenopathy, haematologic abnormalities including eosinophilia and atypical lymphocytosis and internal organ involvement. Clinical presentation is highly variable. Eosinophilia is present in 50-90% of cases. Preferred (foundation metadata concept)
A duplicated gallbladder resulting from an accessory gallbladder, which may be ductular or trabecular. Preferred (foundation metadata concept)
A dysostosis with predominant vertebral and costal involvement and characteristics of oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989. Preferred (foundation metadata concept)
A facility whose role is to provide care from the night to the morning hours. Preferred (foundation metadata concept)
A factor activity level <1 percent of normal. Preferred (foundation metadata concept)
A factor activity level of >5 percent of normal and <40 percent of normal. Preferred (foundation metadata concept)
A factor activity level ≥1 percent of normal and ≤5 percent of normal. Preferred (foundation metadata concept)
A faint Acceptable (foundation metadata concept)
A familial condition where too much aldosterone is produced by the adrenal glands which can lead to lowered levels of potassium in the blood. Preferred (foundation metadata concept)
A familial form of essential thrombocythaemia, a myeloproliferative disorder characterised by a sustained elevation of platelet number with a tendency for thrombosis and haemorrhage. Patients commonly manifest microcirculatory disturbances or vaso-motor events. The disease is less frequently associated with an increased risk of haemorrhage, mild splenomegaly, and progression towards myelofibrosis with myeloid metaplasia or transformation to leukaemia. The genetic cause of the inherited predisposition is not known. Transmission appears to be autosomal dominant with incomplete penetrance. Preferred (foundation metadata concept)
A familial syndrome characterised by gastrointestinal stromal tumours and paragangliomas, often at multiple sites. It is a very rare syndrome presenting at a young age. The gastric stromal sarcomas are multifocal and the paragangliomas are multicentric. The clinical spectrum of this syndrome varies widely, depending on the localisation and the size of the tumours. The vast majority of cases are due to germline mutations of the succinate dehydrogenase (SDH) subunit genes SDHB, SDHC and SDHD. Predisposition to developing these tumours is inherited in an autosomal dominant manner with incomplete penetrance. Preferred (foundation metadata concept)
A familial type of self-limited focal epilepsy with onset typically between day two and seven of life. Seizures are focal tonic at onset, affecting the head, face, and limbs. Focal clonic or tonic seizures may evolve to bilateral tonic or clonic seizures. Onset may alternate between hemispheres. Autonomic features (apnoea and cyanosis) can be seen. Seizure semiology may progress in a sequential pattern with tonic, clonic, myoclonic and autonomic features following each other without a single predominant feature. Clusters of seizures can occur over hours or days with the neonate behaving normally between events. Developmental progress is usually normal. The electroencephalogram (EEG) background is normal or has minor nonspecific abnormalities. Focal interictal epileptiform abnormalities can be seen in the central, centrotemporal or frontotemporal regions. MRI is normal or has nonspecific findings. Pathogenic variants are seen in KCNQ2, KCNQ3 and SCN2A. Preferred (foundation metadata concept)
A fatal malformative disorder with characteristics of Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988. Preferred (foundation metadata concept)
A fear of spiders that may cause feelings of unease or dislike but is mild and manageable and doesn't typically interfere with daily life. Unlike arachnophobia which is a severe and debilitating condition that significantly impacts a person's life. Preferred (foundation metadata concept)
A fear that may be due to personal sensitivity, negative associations or social conditioning where people are taught from a young age to avoid unpleasant odours. It is not excessive and does not lead to significant anxiety and does not interfere with the individual's daily life and activities. Preferred (foundation metadata concept)
A fear that may be due to social situations, inability to maintain personal hygiene or specific health conditions. It is not excessive or irrational. Preferred (foundation metadata concept)
A fibroma of the gums with calcification and possibly ossification Preferred (foundation metadata concept)
A financial audit to review and/or verify charges Preferred (foundation metadata concept)
A financial procedure that assesses a financial situation Preferred (foundation metadata concept)
A finding of decreased blood pressure; not necessarily a hypotensive disorder. Preferred (foundation metadata concept)
A finding of increased blood pressure; not necessarily a hypertensive disorder. Preferred (foundation metadata concept)
A finding of mandible bone height in edentulous patients by examination of the oral cavity in prosthodontics; part of prosthodontic classification in assessment for dentures/devices. Preferred (foundation metadata concept)
A firmly held false belief (delusion) that certain thoughts are being placed in one's mind by others. Preferred (foundation metadata concept)
A firmly held false belief (delusion) that involves an external force or person controlling one's actions. Preferred (foundation metadata concept)
A firmly held false belief (delusion) that involves an external force or person controlling one's feelings, impulses, thoughts, or behaviour. Preferred (foundation metadata concept)
A firmly held false belief (delusion) that involves an external force or person controlling one's handwriting. Preferred (foundation metadata concept)
A firmly held false belief (delusion) that involves an external force or person controlling one's thoughts. Preferred (foundation metadata concept)
A firmly held false belief (delusion) that involves an external force or person controlling one's voice. Preferred (foundation metadata concept)
A firmly held false belief (delusion) that one's thoughts are accessible by others so that others know what one is thinking. Preferred (foundation metadata concept)
A firmly held false belief (delusion) that one's thoughts are being removed by an outside person or force. Preferred (foundation metadata concept)
A first aid technique to unblock the airway in cases of choking. when abdominal thrusts would be dangerous (such as in infants) or impossible (such as in pregnant women). In a chest thrust, the first-aider places a fist in the other hand, and, pressing against the lower breastbone, thrusts the chest wall inwards up to five times. The pressure simulates the coughing reflex and may expel the obstruction. Preferred (foundation metadata concept)
A first neurologic episode caused by inflammation/demyelination of one or more central nervous system sites that lasts at least 24 hours. Preferred (foundation metadata concept)
A fistula route that begins within a mucous fistula. Preferred (foundation metadata concept)
A fixation that is being revised Preferred (foundation metadata concept)
A fixation that joins together two body parts, rendering them immobile with respect to each other Preferred (foundation metadata concept)
A flat lesion, less than 2 cm in diameter, not raised above the surface of the surrounding skin Preferred (foundation metadata concept)
A flat mandibular plane angle correlates with short anterior facial vertical dimensions (height) and anterior deep bite malocclusion. Preferred (foundation metadata concept)
A fluid-filled, raised, often translucent lesion, greater than 1 cm in diameter Preferred (foundation metadata concept)
A focal to bilateral tonic-clonic epileptic seizure of more than 5 minutes duration. Preferred (foundation metadata concept)
A follicular lesion of the thyroid encompasses a wide range of diseases, and refers to the microscopic finding of follicular cells before a specific diagnosis. Preferred (foundation metadata concept)
A force that approximates two structures. Preferred (foundation metadata concept)
A form of Charcot-Marie-Tooth disease type 1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood). Usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis. Preferred (foundation metadata concept)
A form of Charcot-Marie-Tooth disease type 1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. The disease has characteristics of progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. Caused by mutations in the NEFL gene (8p21.2). Preferred (foundation metadata concept)
A form of Ehlers-Danlos syndrome (EDS) with characteristics of distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, haemorrhagic diathesis and multisystem fragility-related manifestations. Preferred (foundation metadata concept)
A form of Ehlers-Danlos syndrome (EDS) with characteristics of extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and sometimes major complications due to visceral and vascular fragility. Preferred (foundation metadata concept)
A form of Ehlers-Danlos syndrome (EDS) with characteristics of joint hypermobility, skin hyperextensibility and cardiac valvular defects. Preferred (foundation metadata concept)
A form of Ehlers-Danlos syndrome (EDS) with characteristics of premature ageing with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia and defective wound healing with atrophic scars. Preferred (foundation metadata concept)
A form of Ehlers-Danlos syndrome (EDS) with characteristics of severe kyphoscoliosis in conjunction with sensorineural hearing impairment and normal urinary pyridinoline excretion. Preferred (foundation metadata concept)

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