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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)


1342375 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 supernumerary tooth located near the midline of the dental arch between two central incisors. Preferred (foundation metadata concept)
A supernumerary tooth resembling a molar tooth especially in shape. Preferred (foundation metadata concept)
A supportive process, characterised by a collaborative counsellor-patient/client relationship to establish food, nutrition and physical activity priorities, goals and individualised action plans that acknowledge and foster responsibility for self-care to treat an existing condition and promote health. Preferred (foundation metadata concept)
A surgical cardiac procedure involving repair of the aortic valve by implanting a replacement valve (within a stent) into the previously implanted aortic valve without removing the old, damaged valve or the previously implanted valve. Preferred (foundation metadata concept)
A surgical cardiac procedure involving repair of the aortic valve by wedging a replacement valve (within a stent) into the aortic valve without removing the old, damaged valve. Preferred (foundation metadata concept)
A surgical implant used to lower intraocular pressure in glaucoma by diverting aqueous humour to an external reservoir or alternative outflow pathway via a flexible tube connected to a plate or valve. Preferred (foundation metadata concept)
A surgical procedure to remove breast tissue while preserving the majority of the skin envelope. Preferred (foundation metadata concept)
A surgical procedure to remove breast tissue while preserving the nipple and areola and the majority of the skin envelope. Preferred (foundation metadata concept)
A surgical procedure to remove breast tissue, nipple and areola while preserving the majority of the skin envelope. Preferred (foundation metadata concept)
A surgical procedure where a catheter is passed through a cut in the chest wall and then through the heart wall (transapical) and positioned across the leaking mitral valve. A bioprosthetic mitral valve is then passed through the tube (transcatheter) and placed within the existing surgically implanted mitral valve ring. The aim is to treat the leaking mitral valve without needing to repeat open-heart surgery. Preferred (foundation metadata concept)
A surgical process in which a solid organ, which may be complete or partial, is moved from one individual (the donor, which may be from the patient or from another individual) or from an animal or artificial, and implanted into a recipient individual. Preferred (foundation metadata concept)
A surgical technique in which tissues, cells, or synthetic material, commonly from the same person, another individual, or an animal, are transferred to a recipient site. Grafts of skin and tissue fragments that are completely detached from their original source typically lack their own intrinsic blood supply and rely on the recipient site for vascular perfusion and survival. While solid organs are almost exclusively transplanted and skin and tissues are generally grafted, the terms graft and transplant are sometimes used interchangeably depending on the context and medical specialty. Preferred (foundation metadata concept)
A sustained increase in bilateral muscle contraction lasting a few seconds to minutes. A seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. Preferred (foundation metadata concept)
A syndrome marked by significant anxiety symptoms directly caused by a physical health condition, not classified as a mental disorder. This determination is based on the patient's history, physical examination or laboratory findings. These symptoms are not due to delirium, another mental disorder, or a psychological reaction to a severe medical diagnosis. Preferred (foundation metadata concept)
A syndrome of emergence or increment of neuropsychiatric symptoms, such as confusion and behavioural disturbances, in the late afternoon, early evening or at night. Preferred (foundation metadata concept)
A syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterised by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals. Preferred (foundation metadata concept)
A syndromic genetic deafness characterised by erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated. Preferred (foundation metadata concept)
A synthetic graft of skin is when the graft consists of synthetic materials, for example, silicone graft. Preferred (foundation metadata concept)
A system of medicine which aims at discovering the exact nature of the relationship between the emotions and bodily function, affirming the principle that the mind and body are one. Preferred (foundation metadata concept)
A systolic blood pressure ≥150 mm Hg or diastolic blood pressure ≥90 mm Hg while lying down. Preferred (foundation metadata concept)
A tablet covered with one or more layers of (mixtures of) substances (e.g. sugars and waxes) making the coating thicker than a film; the release characteristics of the active substance in the dose form remain "Intrinsic" (i.e. conventional release). Preferred (foundation metadata concept)
A target or goal is a parameter whose value is to be achieved, typically through some intervention. Preferred (foundation metadata concept)
A targeted cancer treatment that delivers radiation to select types of cells using a radioligand. A radioligand has two components, a radioisotope, in this case, lutetium (177-Lu) labelled somatostatin analogue and a cell-targeting compound known as a ligand. Preferred (foundation metadata concept)
A tear with a flap displaced to the vertical or horizontal direction. Preferred (foundation metadata concept)
A technique in which the double layer of peritoneum that invests the intestines and its associated vascular, neural and lymphatic structures is relieved of tension from the attachments to the posterior wall of the abdomen which include the root of the mesentery, hepatic and splenic flexures and ascending and descending colon. Preferred (foundation metadata concept)
A technique of brachytherapy that directs the radiation into the tumour and away from healthy tissue, for example, by incorporation of static or dynamic metallic shields inside brachytherapy applicators. Preferred (foundation metadata concept)
A technique of external beam radiation therapy where both photon and particle based beams are used to deliver the radiation therapy. Preferred (foundation metadata concept)
A technique of neutron radiation therapy with conformal application of neutron beams that result in substantial reduction in normal tissue dose. Preferred (foundation metadata concept)
A technique that consists of intermittent compression of the thoracic cage. Preferred (foundation metadata concept)
A technique used to void urine from the bladder by exerting manual pressure on the abdomen at the location of the bladder just below the navel. Preferred (foundation metadata concept)
A technique where desired behaviours are practiced in preparation for use in a real-life situation. Preferred (foundation metadata concept)
A temporary situation during which the apex of the tooth root demonstrates the radiographic appearance of resorption following trauma. The finding generally returns to normal following repair within a period of one year. Preferred (foundation metadata concept)
A teratogenic embryofetopathy that results from maternal exposure to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, oesophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia. Preferred (foundation metadata concept)
A teratologic disorder associated with intrauterine exposure of phenobarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, finger hypoplasia, brachydactyly and hypospadias have been reported in rare cases. Preferred (foundation metadata concept)
A term defining a group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Disease onset depends on the specific disorder. The most important component seen in this group are malignancies. Preferred (foundation metadata concept)
A term used to describe the impact of intrathoracic pressure changes on lymphatic flow. Preferred (foundation metadata concept)
A therapeutic behavioural technique of purposely scheduling and undertaking enjoyable activities to assist with elevating mood. Preferred (foundation metadata concept)
A therapeutic treatment which involves connecting with nature through activities to support and improve wellbeing. Preferred (foundation metadata concept)
A therapy that induces intermittent intra-abdominal vagal blocking with the use of high frequency electrical energy. Preferred (foundation metadata concept)
A thick split thickness graft that consists of the epidermis and less than the entire thickness of the dermis. Split thickness graft of skin can be categorised further as thin, intermediate, or thick based on the thickness of the harvested graft. Preferred (foundation metadata concept)
A thin split thickness graft that consists of the epidermis and less than the entire thickness of the dermis. Split thickness graft of skin can be categorised further as thin, intermediate, or thick based on the thickness of the harvested graft. Preferred (foundation metadata concept)
A thin, flexible sheet of retinal basement membrane that has been partially peeled from the retina and left attached at one edge, allowing it to be folded or repositioned over a retinal defect such as a macular hole. Preferred (foundation metadata concept)
A time sensitive determination and evaluation of the teeth that identifies no evidence of current disease. Preferred (foundation metadata concept)
A tissue texture abnormality characterised principally by a palpable sense of sponginess in the tissue, interpreted as resulting from congestion due to increased fluid content. Preferred (foundation metadata concept)
A tongue position where the tongue is pulled back in the mouth altering the shape of the sublingual space. Preferred (foundation metadata concept)
A tooth which erupts after birth in the neonatal period. Preferred (foundation metadata concept)
A tooth whose root canal system has been filled in three dimensions and where a surplus of material extrudes beyond the foramina. Preferred (foundation metadata concept)
A tooth whose root canal system has been inadequately obturated in any dimension, leaving large reservoirs for recontamination. Preferred (foundation metadata concept)
A topical route that begins on the skin or cutaneous wounds and/or nails and/or hair. Preferred (foundation metadata concept)
A toxin used by animals and injected into their victims by a bite or sting Preferred (foundation metadata concept)
A transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain, regardless of whether focal, generalised, or unknown onset, whether aware or impaired awareness, and whether motor or nonmotor. Preferred (foundation metadata concept)
A transplantation where the donor and recipient are part of genetically identical organisms. Preferred (foundation metadata concept)
A transplantation where the donor and recipient spots are from antigenically distinct individuals of the same species. Preferred (foundation metadata concept)
A treatment approach that utilises a localised form of radiation that treats only the lumpectomy bed plus a 1-2 cm margin. Preferred (foundation metadata concept)
A treatment method in which a dysfunctional body region is addressed with a combination of neutral positioning, application of an activating force (compression, torsion, or distraction), and placement into position of ease. Preferred (foundation metadata concept)
A treatment method in which steady pressure is applied to soft tissues to reduce reflex activity and promote tissue relaxation. Preferred (foundation metadata concept)
A treatment method in which the osteopathic practitioner moves the dysfunctional fascial tissues in response to a sensation of ease and bind in a dynamic continuous process. Preferred (foundation metadata concept)
A treatment method intended to normalize neuromuscular function by applying a manual oscillatory force, which may be combined with any other ligamentous or myofascial technique. Preferred (foundation metadata concept)
A treatment strategy where the initial movements are indirect; as the technique is completed the movements change to direct forces; A manipulative sequence involving two or more different osteopathic manipulative treatment method (e.g., Spencer technique combined with muscle energy technique). Preferred (foundation metadata concept)
A true combined periodontal and endodontic lesion forms when a periodontal lesion and an endodontic lesion develop independently, then these two separate lesions join at the root surface. Preferred (foundation metadata concept)
A two dimensional cross section view made up of numerous brightness mode scan lines. Preferred (foundation metadata concept)
A type of EE-SWAS that presents in individuals with normal development and cognition. It is characterised by plateauing or regression of language, with an acquired agnosia that is concomitant with significant activation of spike-and-wave complexes during sleep. Onset of epileptic seizures is between 2 and 12 years of age. Epileptic seizures may or may not be clinically evident. There is no mandatory seizure type although focal seizures are common. Neurological examination is normal. The EEG background during wakefulness may show focal or diffuse slowing and often contains focal or multifocal abnormalities but may be normal. Epileptiform abnormalities during wakefulness are not continuous. In drowsiness and sleep, there is marked activation of epileptiform activity, with slow (1.5 - 2Hz) spike-and-wave complexes in N-REM sleep. Spike-and-wave activation in sleep (SWAS) is usually diffuse but may occur more focally or multifocally. Normal sleep architecture is absent or difficult to distinguish. Preferred (foundation metadata concept)
A type of allergic process that results in an immune response to a foreign antigen. Preferred (foundation metadata concept)
A type of arthrogryposis characterised by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (myopathic stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, microgenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalised muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983. Preferred (foundation metadata concept)
A type of autosomal recessive pure hereditary spastic paraplegia characterised by infancy onset of crural spastic paraparesis with scissors gait, extensor plantar response, and increased tendon reflexes. Neuroimaging reveals a thin corpus callosum and electromyography and nerve conduction velocity studies are normal. Preferred (foundation metadata concept)
A type of cancer treatment that targets specific genes and proteins to prevent cancer cells surviving, growing or duplicating e.g. small molecule drugs or monoclonal antibodies. Preferred (foundation metadata concept)
A type of cerebral palsy defined by increased tone and pathological reflexes resulting in an abnormal pattern of movement and posture. Preferred (foundation metadata concept)
A type of classical xanthinuria, this disease is a rare autosomal recessive disorder of purine metabolism with characteristics of isolated deficiency of xanthine dehydrogenase, leading to urolithiasis, haematuria, renal colic and urinary tract infections. Some patients are asymptomatic, others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer. Preferred (foundation metadata concept)
A type of developmental and epileptic encephalopathy caused by biallelic variants in the PNPO gene, part of the lysine degradation pathway. Onset of seizures is usually shortly after birth or with intrauterine convulsions. Seizures are drug-resistant and frequent (often evolving to status epilepticus) but rapidly responding to pyridoxal-5'-phosphate. There are variable seizure types including focal/multifocal seizures, tonic seizures, clonic seizures, tonic-clonic seizures, epileptic spasms and multifocal myoclonus affecting limbs, trunk, eyes, and facial muscles. Infants may appear hyperkinetic, distressed, irritable and agitated. Infants may be acidotic and hypotonic. Cirrhosis of the liver has been reported. EEG is abnormal with slowing and focal/multifocal discharges or burst suppression pattern. The biomarker pyridoxal−5-phosphate is low in cerebrospinal fluid. Preferred (foundation metadata concept)
A type of developmental and epileptic encephalopathy that presents in individuals with a pre-existing neurodevelopmental disorder. It is characterised by plateauing or regression of various combinations of cognitive, language, behavioural, and motor functions that is concomitant with significant activation of spike-and-wave complexes during sleep. Onset of epileptic seizures is between 2 and 12 years of age (peak at 4 to 5 years). Epileptic seizures may or may not be clinically evident. There is no mandatory seizure type although focal seizures are common. Epileptic seizures typically worsen with the evolution of multiple seizure types including other focal seizure types, typical and atypical absence seizures, atonic seizures, and focal seizures with negative myoclonus. Neurological examination may be normal or reflect the underlying neurodevelopmental disorder. The EEG background during wakefulness may show focal or diffuse slowing and often contains focal or multifocal abnormalities but may be normal. Epileptiform abnormalities during wakefulness are not continuous. In drowsiness and sleep, there is marked activation of epileptiform activity, with slow (1.5 - 2Hz) spike-and-wave complexes in N-REM sleep. Spike-and-wave activation in sleep (SWAS) is usually diffuse but may occur more focally or multifocally. Normal sleep architecture is absent or difficult to distinguish. Preferred (foundation metadata concept)
A type of developmental and epileptic encephalopathy that presents with drug-resistant seizures between 18 months and 18 years of age (peak onset at 3 to 5 years, onset in second decade is rare). Tonic seizures and at least one other seizure type are mandatory for the diagnosis. Other seizure types include atypical absence seizures, atonic seizures, myoclonic seizures, focal seizures, generalised tonic-clonic seizures, nonconvulsive status epilepticus and epileptic spasms. Development is usually impaired before seizure onset, but over time there is developmental slowing and plateauing with subsequent moderate to severe intellectual disability in 90% of individuals. Behaviour disorders (hyperactivity, aggression), autism spectrum disorder, sleep disturbances are common. Neurological examination is often abnormal and related to the underlying aetiology. The EEG has diffuse background slowing. Interictal generalised slow spike-and-wave (≤2.5 Hz) and generalised paroxysmal fast activity in sleep (10 Hz or more) are mandatory diagnostic criteria. Preferred (foundation metadata concept)
A type of developmental and epileptic encephalopathy that presents with frequent typically drug-resistant tonic and/or myoclonic seizures in the first 3 months of life. They may also have focal seizures, epileptic spasms and sequential seizures. Developmental impairment is present prior to or shortly after seizure onset becoming moderate to profound developmental impairment with time. Neurological examination is typically abnormal at seizure onset with abnormalities of tone, posture, or movement. The EEG is abnormal with burst-suppression or multifocal discharges and diffuse slowing. Preferred (foundation metadata concept)
A type of epilepsy associated with developmental impairment where the developmental impairment is due to both the underlying aetiology, independent of epileptic activity, and the superimposed epileptic encephalopathy. An epileptic encephalopathy is where the epileptic activity itself contributes to severe cognitive and behavioural impairments above and beyond what might be expected from the underlying pathology alone. Preferred (foundation metadata concept)
A type of epilepsy characterised by frequent epileptiform activity associated with developmental slowing and often regression on the background of previously normal development. In this type of epilepsy the frequent seizures and/or epileptiform discharges, rather than underlying aetiology is thought to be the only cause of developmental impairment. Preferred (foundation metadata concept)
A type of epilepsy that presents between 2 and 14 years of age with the triad of frequent eyelid myoclonia, with or without absences, induced by eye closure and photic stimulation. Eyelid myoclonia is often most prominent on awakening. Generalised tonic-clonic seizures occur in the majority of cases but are usually infrequent. The electroencephalogram shows bursts of 3 to 6 Hz generalised spike-wave or polyspike-and-wave which are often triggered by eye closure and/or photic stimulation, with a normal background. Preferred (foundation metadata concept)
A type of epilepsy that presents with daily typical absence seizures usually between 4 to 10 years of age in an otherwise normal child. Absence seizures are brief but may occur in clusters and are provoked by hyperventilation. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 2.5 to 4 Hz generalised spike-wave and a normal background. Preferred (foundation metadata concept)
A type of epilepsy that presents with epileptic spasms and an epileptic encephalopathy between 1 and 24 months of age (peak 3 and 12 months). Epileptic spasms usually occur in clusters often over a period of minutes and are often seen on awakening. They may be symmetric or asymmetric and may be subtle, with minor head nods, or eye or chin movements. Focal seizures may also be seen particularly if there is a structural aetiology. Prior to seizure onset the development can be normal, but there is often a history of preceding clear or suspected abnormal development. Developmental slowing, arrest, or regression is seen with the onset of epileptic spasms, although it may not be apparent very early in the course. Neurological exam may be normal or reveal abnormalities associated with the underlying aetiology. Interictal EEG shows hypsarrhythmia, multifocal or focal epileptiform discharges. Preferred (foundation metadata concept)
A type of epilepsy that presents with generalised tonic-clonic seizures usually between 10 and 25 years of age in an otherwise normal adolescent or adult. The generalised tonic-clonic seizures are typically provoked by sleep deprivation. Other seizure types do not occur. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram must show generalised epileptiform discharges or capture a generalised tonic-clonic seizure and have a normal background. Preferred (foundation metadata concept)
A type of epilepsy that presents with myoclonic epileptic seizures between 4 months and 3 years of age, in an otherwise normal infant. The myoclonic epileptic seizures may be activated by sudden noise, startle, or touch, and less commonly by photic stimulation. The electroencephalogram must capture generalised epileptiform discharges or myoclonic epileptic seizures and have a normal background. Preferred (foundation metadata concept)
A type of epilepsy that presents with myoclonic epileptic seizures, usually between 10 and 24 years of age, in an otherwise normal adolescent or adult. Generalised tonic-clonic seizures occur in greater than 90 percent of individuals and absence seizures occur in a third. Seizures typically occur shortly after waking and when tired. Sleep deprivation is an important provoking factor. Photosensitivity is common. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 3 to 5.5 Hz generalised spike-wave and polyspike-wave and a normal background. Preferred (foundation metadata concept)
A type of epilepsy that presents with myoclonic-atonic seizures usually between 2 to 6 years of age. Other generalised seizure types which may be seen in this syndrome include atonic, myoclonic, generalised tonic-clonic seizures, tonic and absence seizures. Nonconvulsive status epilepticus is common. Development prior to seizure onset is normal in two thirds of cases. These children typically show developmental stagnation or even regression during the active seizures (stormy) phase, which improves once seizures are controlled. The electroencephalogram shows generalised 2 to 6 Hz spike-wave or polyspike-and-wave abnormalities, with normal background. Preferred (foundation metadata concept)
A type of epilepsy that presents with typical absence seizures between 9 and 13 years of age in an otherwise normal adolescent. The typical absence seizures usually occur less than daily in the untreated state and are provoked by hyperventilation in 87 percent of cases. Generalised tonic-clonic seizures are seen in greater than 90 percent of cases, most commonly beginning shortly after onset of absence seizures. Myoclonic seizures do not occur. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 3 to 5.5 Hz generalised spike-wave with a normal background. Preferred (foundation metadata concept)
A type of epilepsy with both generalised and focal onset epileptic seizures. Preferred (foundation metadata concept)
A type of epilepsy with only focal onset epileptic seizures. Seizures can arise from a single location or multiple locations. Preferred (foundation metadata concept)
A type of epilepsy with only generalised onset epileptic seizures. Preferred (foundation metadata concept)
A type of epileptic encephalopathy that presents in individuals with normal development and cognition. It is characterised by plateauing or regression of various combinations of cognitive, language, behavioural, and motor functions that is concomitant with significant activation of spike-and-wave complexes during sleep. Onset of epileptic seizures is between 2 and 12 years of age (peak at 4 to 5 years). Epileptic seizures may or may not be clinically evident. There is no mandatory seizure type although focal seizures are common. Epileptic seizures typically worsen with the evolution of multiple seizure types including other focal seizure types, typical and atypical absence seizures, atonic seizures, and focal seizures with negative myoclonus. Neurological examination is normal. The EEG background during wakefulness may show focal or diffuse slowing and often contains focal or multifocal abnormalities but may be normal. Epileptiform abnormalities during wakefulness are not continuous. In drowsiness and sleep, there is marked activation of epileptiform activity, with slow (1.5 - 2Hz) spike-and-wave complexes in N-REM sleep. Spike-and-wave activation in sleep (SWAS) is usually diffuse but may occur more focally or multifocally. Normal sleep architecture is absent or difficult to distinguish. Preferred (foundation metadata concept)
A type of esophoria where the inward deviation is consistent in all directions of gaze. Preferred (foundation metadata concept)
A type of esophoria where the inward deviation varies depending on the direction of gaze. Preferred (foundation metadata concept)
A type of exophoria where the outward deviation is consistent in all directions of gaze. Preferred (foundation metadata concept)
A type of exophoria where the outward deviation varies depending on the direction of gaze. Preferred (foundation metadata concept)
A type of familial frontal lobe epilepsy where individuals present with clusters of motor seizures occurring from sleep, with usual onset in the first two decades of life, typically in adolescence (eleven to fourteen years). Focal motor seizures have hyperkinetic features or asymmetric tonic/dystonic features, usually with autonomic signs, vocalisation, and negative emotional expression such as fear. Seizures are brief, with abrupt onset/offset, and there is often preserved awareness during the seizure. Individuals may describe a focal aware sensory or cognitive seizure before the motor features commence. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram (EEG) background is typically normal. The awake EEG is non epileptiform in most patients. During sleep, interictal epileptiform abnormalities are seen over the frontal areas in approximately 50% of patients. Neuroimaging is usually normal. There is a family history of sleep-related hypermotor epilepsy. Preferred (foundation metadata concept)
A type of familial infantile gigantism caused by microduplication of Xq26.3. Onset usually occurs in the first year of life in previously normal infants. Patients present with gigantism and may associate acromegalic features (e.g. coarse facial features, frontal bossing, prognathism, increased interdental space) as well as marked enlargement of hands and feet, soft tissue swelling, appetite increase and acanthosis nigricans. May present as a sporadic condition or as familial isolated pituitary adenomas. Preferred (foundation metadata concept)
A type of focal epilepsy where all the seizures originate within the amygdalo-hippocampal area of the temporal lobe. Preferred (foundation metadata concept)
A type of focal epilepsy where all the seizures originate within the anterior frontopolar area of the frontal lobe. Preferred (foundation metadata concept)
A type of focal epilepsy where all the seizures originate within the cingulate area of the frontal lobe. Preferred (foundation metadata concept)
A type of focal epilepsy where all the seizures originate within the dorsolateral area of the frontal lobe. Preferred (foundation metadata concept)
A type of focal epilepsy where all the seizures originate within the frontal lobe. Preferred (foundation metadata concept)
A type of focal epilepsy where all the seizures originate within the insular cortex. Preferred (foundation metadata concept)
A type of focal epilepsy where all the seizures originate within the lateral area of the temporal lobe. Preferred (foundation metadata concept)
A type of focal epilepsy where all the seizures originate within the mesial area of the temporal lobe. Preferred (foundation metadata concept)
A type of focal epilepsy where all the seizures originate within the mesiobasal limbic area of the temporal lobe. Preferred (foundation metadata concept)

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