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 rare multiple congenital anomaly syndrome characterised by bilateral choanal atresia associated with characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. Affected individuals have normal intelligence.	Preferred (foundation metadata concept)
A rare multiple congenital anomaly syndrome characterised by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs may be additionally observed.	Preferred (foundation metadata concept)
A rare multiple congenital defects/dysmorphic syndrome characterised by variable degrees of bony syngnathia associated with variable additional abnormalities, including growth retardation, intellectual disability, microcephaly, iris coloboma, nystagmus, deafness, and vertebral segmentation defects, as well as genital, limb and additional facial malformations, among others.	Preferred (foundation metadata concept)
A rare multiple congenital malformation syndrome with characteristics of blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases of Ohdo who described two affected sisters and a first cousin, suggesting autosomal recessive inheritance. Autosomal dominant, X-linked- and mitochondrial inheritance have also been suggested.	Preferred (foundation metadata concept)
A rare multiple congenital malformation syndrome, characterised by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicoureteral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastro-oesophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis, etc.) have also been reported. An overlap with Kabuki syndrome is debated.	Preferred (foundation metadata concept)
A rare multiple epiphyseal dysplasia characterised by mild short stature, joint pain and early-onset osteoarthropathy, frequently requiring joint replacement. Radiographs from affected individuals may manifest features typical of Desbuquois dysplasia, including irregularly shaped capital femoral epiphyses, a short femoral neck (resembles the Swedish key appearance of the proximal femur) and advanced carpal ossification in the hands. However, some other features typical of Desbuquois dysplasia like joint dislocations, scoliosis, coronal clefts, or other hand anomalies including accessory ossification centres and/or delta phalanx are not observed. Anterior wedging of vertebral bodies, small epiphyses at the knees with metaphyseal flare may be present. Patients have normal metacarpal and phalangeal lengths, no distinctive facies nor neurologic complications.	Preferred (foundation metadata concept)
A rare multisystem disorder characterised by neonatal/childhood hypotonia, mild to moderate developmental delay or intellectual disability, epilepsy, dysmorphic facial features, hypermetropia, congenital heart anomalies, congenital renal/urologic anomalies, musculoskeletal problems, and a friendly/amiable disposition.	Preferred (foundation metadata concept)
A rare multisystemic genetic disorder characterised by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioural problems including anxieties and aggressiveness.	Preferred (foundation metadata concept)
A rare mycosis caused by Scedosporium species, characterised by disparate disease pictures including pneumonia, skin and soft tissue infection, mycetoma, and disseminated infection. Central nervous system infection has also been reported. Infections with this ubiquitous mold can occur in a range of contexts like solid organ transplantation, chemotherapy, chronic lung disease, but also in immunocompetent hosts and near drowning.	Preferred (foundation metadata concept)
A rare mycosis characterised by disseminated or localised deep tissue infections due to invasive Scopulariopsis (that are commonly responsible for non-invasive infections) infection in both immunocompetent and immunosuppressed patients (mostly treated with high dose chemotherapy and/or received a stem cell transplantation). Clinical features may include endocarditis, brain abscess, cutaneous infections, pulmonary infections, endophthalmitis, invasive sinusitis and peritonitis that are often life threatening.	Preferred (foundation metadata concept)
A rare myotonic dystrophy of juvenile or adult-onset characterised by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.	Preferred (foundation metadata concept)
A rare naevus disorder characterised by the presence of epidermal naevi consisting of depigmented hypertrichosis manifesting with long, soft, white hair which grows from dilated follicles and follows Blaschko's lines, typically located on the scalp, neck, face, trunk and/or limbs. Association with hyperpigmented, hyperkeratotic linear epidermal naevi, macrocephaly, body asymmetry, sacral pit and koilonychia, as well as skeletal, ocular, and neurological abnormalities, has also been reported.	Preferred (foundation metadata concept)
A rare neoplastic disease characterised by occurrence of atypical and aggressive gastric type 1 neuroendocrine tumours (NET) in early adulthood. The tumours often show nodal infiltration requiring total gastrectomy. Synchronous gastric adenocarcinoma has also been reported. Patients present high serum gastrin concentrations and iron-deficiency anaemia (rather than megaloblastic anaemia, which is a typical feature in patients with sporadic gastric type 1 NET, where the tumour usually arises on the background of autoimmune atrophic gastritis).	Preferred (foundation metadata concept)
A rare neoplastic disease characterised by the presence of a benign or malignant, pelvic or abdominal tumour (other than ovarian fibroma or fibroma-like and localised outside of the ovaries, fallopian tubes, and broad ligaments) associated with hydrothorax and ascites that resolve after tumour resection. Patients usually present with dyspnoea, pelvic mass with or without a tender, distended abdomen and/or weight loss.	Preferred (foundation metadata concept)
A rare neoplastic disease characterised by the presence of a tumour located in the parotid, sublingual, submandibular and/or minor salivary glands, which presents with a wide spectrum of clinical features depending on the location, size and type of salivary gland involved, ranging from clinically asymptomatic, slow-growing, painless mass(es), that may or may not be fixed to underlying skin or muscles, to rapidly growing mass(es) associated with pain, facial weakness/nerve palsy, otorrhoea, dysphagia, palatal/parapharyngeal fullness, nasal obstruction/bleeding, voice hoarseness/change, dyspnoea, trismus, palate bone erosion, telangiectasia, mucosal/skin ulceration and/or cervical adenopathy.	Preferred (foundation metadata concept)
A rare neoplastic disease characterised by the presence of ten or more hepatocellular adenomas in a background of normal appearing hepatic parenchyma. The majority of reported cases are female. There is no association with steroid use. The condition is considered benign, although the risk of complications (such as malignant transformation or spontaneous rupture with intraperitoneal haemorrhage) is much higher than in isolated hepatic adenoma. Hepatocellular carcinoma develops in less than 10% of cases.	Preferred (foundation metadata concept)
A rare neoplastic disease defined as a clonal lymphoid proliferation affecting one or both lungs (parenchyma and/or bronchi) in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. PPL comprises low grade/indolent B cell PPL forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell PPL (including diffuse large B cell lymphoma) and lymphomatoid granulomatosis (LYG).	Preferred (foundation metadata concept)
A rare neoplastic disease with the presence of a testicular neoplasm composed of several, well-differentiated or immature, tissues derived from one or more of the 3 germinal layers. Patients typically present unilateral (occasionally bilateral) painless testicular swelling or a palpable testicular nodule/mass.	Preferred (foundation metadata concept)
A rare neoplastic disorder characterised by benign metastatic masses increasing in size and number after chemotherapy for non-seminomatous germ cell tumours of testis or ovary. It may present at any time after chemotherapy, with a median occurrence within 24 months after treatment completion. Per definition, the resected specimen exclusively contains mature teratoma components, and serum tumour markers have normalised. The retroperitoneum is the most common site, although almost any other localisation has been reported. Increased tumour size may cause mechanical compression of vital organs, with renal dysfunction, bowel ischaemia, and biliary obstruction as major complications.	Preferred (foundation metadata concept)
A rare neural tube closure defect with characteristics of partial lack of bone fusion resulting in sac-like protrusions of the brain and the membranes that cover it through the openings in the skull. Protruding tissue may be located on any part of the head but most often affects the occipital area. Depending in the size and location, encephalocele are often associated with neurological problems including intellectual disability, seizures, vision impairment, ataxia and hydrocephalus. This disorder is not associated with a polymalformative syndrome.	Preferred (foundation metadata concept)
A rare neuro-ophthalmological disease associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia or multiple-sclerosis like illness.	Preferred (foundation metadata concept)
A rare neuro-ophthalmological disease characterised by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.	Preferred (foundation metadata concept)
A rare neuro-ophthalmological disease characterised by severe microcephaly of prenatal onset (with diminutive anterior fontanel and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophthalmia, generalised retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, simplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.	Preferred (foundation metadata concept)
A rare neuro-ophthalmological disease which is one of the most common forms of hereditary optic neuropathy characterised by progressive bilateral visual loss with an onset during the first decade of life, associated with optic disc pallor, visual acuity loss, visual field deficits and colour vision defects.	Preferred (foundation metadata concept)
A rare neurocutaneous syndrome characterised by the association of cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anaesthesia), and scalp (alopecia) abnormalities. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behaviour and bipolar disorder have also been reported.	Preferred (foundation metadata concept)
A rare neurodegenerative disease characterised by extrapyramidal symptoms (rigidity, tremor, bradykinesia) and dementia, typically beginning in the fifth or sixth decade of life and progressing to a vegetative state with pelvicrural flexion contractures within few years. Oculomotor signs, olfactory dysfunction, and autonomic disturbances may also be observed. Neuropathological hallmarks are frontotemporally accentuated cerebral atrophy, as well as neurofibrillary tangles and neuronal loss in a characteristic distribution in cortical and subcortical regions. The disease is endemic to the Pacific Island of Guam.	Preferred (foundation metadata concept)
A rare neurodegenerative disease usually presenting before the age of 30 and which is characterised by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.	Preferred (foundation metadata concept)
A rare neurodevelopmental syndrome characterised by developmental delay, intellectual disability of varying severity and weight disorders (overweight/obesity and eating behaviour disorders including hyperphagia, tachyphagia, food impulsiveness and a feeling of permanent hunger). Additional clinical features include learning difficulties (may be combined with dysphasia, dyspraxia, dyscalculia, dysgraphia), severe language delay, behavioural disorders (stereotypies, impulsiveness or intolerance to frustration, self or hetero aggression, autism spectrum disorder) and non-specific dysmorphism. Epilepsy and ophthalmologic abnormalities can also be observed. Endocrine abnormalities are rarely associated.	Preferred (foundation metadata concept)
A rare neuroendocrine neoplasm of pancreas characterised by morphologically recognisable neuroendocrine and non-neuroendocrine components, each constituting at least 30% of the tumour volume. Based on histopathology, mixed ductal- and mixed acinar-neuroendocrine carcinomas are distinguished. Patients usually present with unspecific symptoms related to tumour growth and/or metastasis, although occurrence of Zollinger-Ellison syndrome has been reported. Resectability of the tumour is the most important prognostic factor.	Preferred (foundation metadata concept)
A rare neuroendocrine tumour of pancreas characterised by a well-differentiated epithelial pancreatic neuroendocrine neoplasm measuring at least 0.5 cm, without distinct hormonal syndrome. Tumours <0.5 cm are called microadenomas. Microadenomatosis is the multifocal occurrence of microadenomas. Histopathologic examination shows an organoid growth pattern and expression of synaptophysin and chromogranin A on immunohistochemistry. Tumours are often discovered incidentally, or patients may present with symptoms related to local or metastatic tumour spread. Microadenomas are considered benign, while larger tumours may behave in a malignant manner with extrapancreatic spread, metastasis, or recurrence.	Preferred (foundation metadata concept)
A rare neuroinflammatory disease characterised by the onset of ataxia, dysarthria and cerebral white matter changes which are triggered by viral infection. Episodic progressive neurodegeneration (manifesting with loss of motor and verbal skills, muscle weakness, further cerebral white matter degeneration and, eventually, death) is observed in the absence of haematopathology, cytokine overproduction, fever, hypertriglyceridaemia, hypofibrinogenaemia and hyperferritinaemia.	Preferred (foundation metadata concept)
A rare neurologic biological anomaly characterised by persistent elevation of the serum creatine phosphokinase (CK) without any clinical, neurophysical or histopathological evidence of neuromuscular disease using the available laboratory procedures. It is usually an incidental finding, diagnosed after exclusion of other possible causes of elevated CK levels.	Preferred (foundation metadata concept)
A rare neurologic condition characterised by focal cerebral ischaemia and infarction due to blockage of a brain artery with subsequent impairment of blood supply and oxygenation of brain tissue. Most children present with hemiparesis with or without facial palsy at stroke onset. In addition, compared to adults, children more often suffer strokes in the posterior circulation, leading to ataxia or oculomotor disturbance. Likewise, aphasia is more frequent in paediatric patients. Other signs and symptoms include seizures, headache, vomiting, and alterations in the level of consciousness. Children under one year of age are more likely to present with seizures and altered level of consciousness, while older children more often show focal neurological deficits.	Preferred (foundation metadata concept)
A rare neurologic disease characterised by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointestinal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases.	Preferred (foundation metadata concept)
A rare neurologic disease characterised by a specific pattern of white matter abnormalities on brain imaging (magnetic resonance imaging), as well as mild ataxia, headaches, mild visual impairment, learning difficulties and cases of male infertility.	Preferred (foundation metadata concept)
A rare neurologic disease characterised by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure.	Preferred (foundation metadata concept)
A rare neurologic disease characterised by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs.	Preferred (foundation metadata concept)
A rare neurologic disease characterised by excessive startle response to unexpected auditory, tactile or visual stimuli, associated with hyperreflexia.	Preferred (foundation metadata concept)
A rare neurologic disease characterised by global developmental delay, intellectual disability, multiple ischaemic lesions in brain MRI, behavioural abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures.	Preferred (foundation metadata concept)
A rare neurologic disease characterised by impaired ability to execute complex coordinated movements underlying the production of speech, leading to highly unintelligible speech in the absence of muscular or sensory deficits.	Preferred (foundation metadata concept)
A rare neurologic disease characterised by impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities, relatively intact memory and language in the early stages, and atrophy of posterior brain regions.	Preferred (foundation metadata concept)
A rare neurologic disease characterised by lethargy, hypotonia, poor feeding, opisthotonus, and a typical high-pitched cry due to bilirubin accumulation in the globus pallidus, sub-thalamic nuclei, and other brain regions, resulting from severe neonatal unconjugated hyperbilirubinaemia. Onset of symptoms is typically within the first three to five days of life. Additional features include fever, apnoea, seizures, and coma. Respiratory failure or refractory seizures may lead to a fatal outcome.	Preferred (foundation metadata concept)
A rare neurologic disease characterised by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction.	Preferred (foundation metadata concept)
A rare neurologic disease characterised by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. Absence or hypoplasia of the cerebellum and severe intra-uterine growth retardation can be detected prenatally. Patients also present with facial dysmorphism (a triangular face, small chin, low set ears), flexion contractures of the arms and legs, very little subcutaneous fat, and optic nerve hypoplasia. The disease is lethal in the neonatal period.	Preferred (foundation metadata concept)
A rare neurologic disease characterised by neonatal hypotonia, global developmental delay, feeding difficulties, and often seizures or seizure-like episodes. Other frequently observed signs and symptoms include variable dysmorphic features, myopathic facies, respiratory problems, and visual abnormalities, such as strabismus or esotropia. Brain imaging may show delayed myelination and other white matter abnormalities.	Preferred (foundation metadata concept)
A rare neurologic disease characterised by persistent side effects of terminated 5-alpha-reductase inhibitor treatment, including impaired sexual function (low libido, erectile dysfunction, diminished semen volume and force), genital numbness or paraesthesia, gynaecomastia, depression, brain fog and elevated anxiety. Additional symptoms may include muscular problems (tics, muscle spasms, tremors, involuntary muscle contraction and muscular ache), joint pain, chronic fatigue, migraine, decreased body temperature and dry skin.	Preferred (foundation metadata concept)
A rare neurologic disease characterised by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities, including progressive loss of gastric motility and small bowel diverticulosis and ulcerations, resulting in cachexia. Additional neurological manifestations may include dysarthria and absent tendon reflexes, as well as ptosis and external ophthalmoplegia. There have been no further descriptions in the literature since 1985.	Preferred (foundation metadata concept)
A rare neurologic disease characterised by seizures that are triggered by acoustic stimulation, which can be simple (as in startle epilepsy) or complex (e.g. musicogenic seizures, seizures triggered by the voice).	Preferred (foundation metadata concept)
A rare neurologic disease characterised by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiadochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986.	Preferred (foundation metadata concept)
A rare neurologic disease characterised by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder, and oculomotor and dental abnormalities.	Preferred (foundation metadata concept)
A rare neurologic disease characterised by the manifestation of an underlying psychiatric illness or malingering, and that cannot be attributed to any known structural or neurochemical diseases. Most cases fall in the psychiatric diagnostic category of conversion disorder, also referred to as functional neurological symptom disorder.	Preferred (foundation metadata concept)
A rare neurologic disease characterised by the presence of Duane retraction syndrome (a congenital cranial dysinnervation disorder with unilateral or bilateral limitation of abduction and/or adduction of the eye, as well as globe retraction and palpebral fissure narrowing on attempted adduction) in combination with congenital unilateral or bilateral hearing loss. The sidedness of hearing loss corresponds to the sidedness of the retraction syndrome.	Preferred (foundation metadata concept)
A rare neurologic disease characterised by unpredictable, transient and spontaneous unresponsiveness lasting from hours to days, with a frequency of three to seven attacks per year, in the absence of readily discernible toxic, metabolic or structural causes.	Preferred (foundation metadata concept)
A rare neurologic disease that is characterised by the early onset of cerebellar signs, eye movement abnormalities and pyramidal signs.	Preferred (foundation metadata concept)
A rare neurologic disease with psychiatric involvement characterised by significantly lower-than-expected body weight due to voluntary reduction of food intake, intense fear of becoming overweight, and a distorted body image, in prepubescent children. Secondary manifestations include growth, developmental, and pubertal delay, decreased bone density, severe metabolic and endocrine dysfunction, cognitive impairment, depression, deterioration of academic or athletic performance, as well as difficulties in familial and peer relations, among others.	Preferred (foundation metadata concept)
A rare neurologic disease with psychiatric involvement with characteristics of a cluster of signs and symptoms of catatonia that are not associated with any underlying psychiatric or organic disorder or intoxication.	Preferred (foundation metadata concept)
A rare neurologic disease with psychiatric involvement with characteristics of prominent pre-psychotic developmental disabilities (cognitive, language, motor), socio-communicative disturbances, auditory hallucinations (visual and tactile hallucinations are rarer) preceding psychotic symptoms, presenting before 13 years of age. Co-occurrence of neurodevelopmental disorders (e.g. autism spectrum disorders, attention deficit hyperactivity disorder) is frequent. Disease course is more severe than adult-onset form of the disease, with major neurodevelopmental impact.	Preferred (foundation metadata concept)
A rare neurologic disorder characterised by a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (i.e. dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported.	Preferred (foundation metadata concept)
A rare neurological disease characterised by a generally deep, poorly localised, persistent facial pain that does not present characteristics of a cranial neuralgia and which cannot be attributed to another disorder.	Preferred (foundation metadata concept)
A rare neurological disorder characterised by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems.	Preferred (foundation metadata concept)
A rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia related to walking, an exaggerated startle response, and often ankylosing deformities such as fixed lumbar hyperlordosis.	Preferred (foundation metadata concept)
A rare neurometabolic disease characterised by a neonatal onset of seizures (often intractable), muscular hypotonia, feeding difficulties (poor sucking and/or swallowing) and mild to severe psychomotor delay, associated with nonketotic hyperglycinaemia typically revealed by biochemical analysis. Respiratory problems (apnoea, acute respiratory acidosis), lethargy, hearing loss, microcephaly and spasticity with pyramidal signs may also be associated.	Preferred (foundation metadata concept)
A rare neurometabolic disease characterised by acute, reversible, and sometimes recurrent neurologic deterioration (including drowsiness, hypotonia, dysarthria, and ataxia) during a febrile illness. The condition is associated with reversible leucoencephalopathy and persistently increased urinary excretion (and sometimes cerebrospinal fluid concentration) mainly of alpha-ketoglutarate and N-acetylaspartate.	Preferred (foundation metadata concept)
A rare neurometabolic disease characterised by infantile onset of rapidly progressive neurological deterioration, typically precipitated by a febrile illness. Patients present with hypotonia, loss of previously acquired motor milestones and cognitive skills, ataxia, nystagmus, tremor, seizures, tetraparesis, and respiratory failure, eventually resulting in a vegetative state. Imaging of the brain and spinal cord may show white matter abnormalities, cerebral atrophy, cerebellar oedema, and spinal myelopathy. Subacute development of extensive bullous skin lesions within weeks of onset of neurological symptoms has also been reported.	Preferred (foundation metadata concept)
A rare neurometabolic disease characterised by infantile onset of repeated episodes of developmental regression and neurodegeneration, often triggered by febrile illnesses. Patients present with lethargy, hypotonia, irritability, gait ataxia, loss of speech, movement disorder, seizures, ophthalmoplegia, and hearing loss. Brain imaging shows generalised cerebral atrophy and bilateral basal ganglia abnormalities. Extensive skin lesions, cardiomyopathy, and pancytopenia have been reported in association. The condition is fatal in the first years of life.	Preferred (foundation metadata concept)
A rare neurometabolic disease, due to a lipoic acid biosynthesis defect, with a highly variable phenotype, typically characterised by early-onset acute or subacute developmental delay or regression frequently associated with feeding difficulties. Clinical severity is variable and may range from mild cases which present a later onset with slow neurological deterioration and general improvement over time to severe cases with clinical signs since birth and leading to early death. Associated manifestations include hypotonia, vision loss, respiratory failure, seizures, and intellectual disability. Brain magnetic resonance imaging frequently shows cavitating leucoencephalopathy with lesions in the periventricular/central white matter and parieto-occipital lobes.	Preferred (foundation metadata concept)
A rare neurometabolic disorder characterised by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.	Preferred (foundation metadata concept)
A rare neurometabolic disorder due to serine deficiency characterised by neonatal to infantile onset of global developmental delay, postnatal microcephaly and intellectual disability, which may be associated with slowly progressive spastic tetraplegia mainly affecting the lower extremities, seizures, and brain MRI findings including thin corpus callosum, delayed myelination and cerebral atrophy. Additional symptoms include brisk deep tendon reflexes, extensor plantar responses, behavioural abnormalities (such as irritability, hyperactivity, sleep disorder), abnormal hand movements and stereotypy.	Preferred (foundation metadata concept)
A rare neuronal ceroid lipofuscinosis characterised by adult-onset (20-early 30 years) progressive generalised tonic-clonic and myoclonic seizures, speech deterioration, dementia and ataxia. Some patients may also exhibit Parkinsonism. Visual impairment is usually not present. This is the only ceroid lipofuscinosis form inherited dominantly.	Preferred (foundation metadata concept)
A rare neuronal ceroid lipofuscinosis characterised by adulthood-onset (11-65 years with the mean of 34 years) epilepsy, cognitive impairment, dementia with behavioural, neuropsychiatric, and movement disturbances. Facial dyskinesia and myoclonus epilepsy are commonly observed. Unspecified motor speech problems and akinetic mutism are also reported in some patients.	Preferred (foundation metadata concept)
A rare neuronal ceroid lipofuscinosis characterised by adulthood-onset (13-25 years-few exceptions of earlier onset were reported) retinal dystrophy (notably retinitis pigmentosa), and cerebellar ataxia with progressive cerebellar atrophy. Generalised tonic-clonic epilepsy, myoclonus, dystonia and cognitive decline are frequently observed whereas visual hallucinations, pyramidal syndrome and parkinsonism may be present in some patients. Disease progression may be slower compared to other ceroid lipofuscinosis diseases.	Preferred (foundation metadata concept)
A rare neuronal ceroid lipofuscinosis characterised by developmental and motor delay/regression, psychomotor and cognitive regression, seizures, ataxia, and visual impairment. It may present classically with late infantile-onset, however juvenile or adult-onset has been also described. Patients with late infantile onset have early language and learning impairment whereas loss of vision and seizures appear later. In juvenile onset patients, disease may progress rapidly (not commonly observed); notably vision loss and inability to walk is usually occur within 1 year of the initiation of the symptoms. Seizures can be absent. In the adult onset patients first symptoms become evident around 20 years of age.	Preferred (foundation metadata concept)
A rare neuronal ceroid lipofuscinosis characterised by developmental and motor regression, seizures, ataxia, intellectual disability, delayed global development, speech and language, spasticity, and hypotonia. Visual impairment is not always present. It may present with late infantile (5-7 years), juvenile (4-8 years) or adult-onset (30 years). Progressive myoclonus epilepsy, with myoclonic and tonic-clonic seizures, limb weakness, dysarthria are mainly associated with the adult-onset form of the disease and these patients commonly have photosensitivity (sometimes extreme) whereas vision loss is infrequent.	Preferred (foundation metadata concept)
A rare neuronal ceroid lipofuscinosis characterised by developmental delay, psychomotor regression, hypotonia, seizures, ataxia, movement disorders and visual impairment. It may present classically with infantile-onset (6-18 months) however late infantile (18 months-4 years) juvenile (4 years-early adolescence) or adult-onset (mid 20s-mid 30s) have also been described. Disease progression is rapid in both infantile/late infantile onset patients, manifesting with progressive and rapid loss of speech, early cognitive and motor decline, impaired gait function, myoclonus, vision loss (observed bit later in late infantile form) and brain atrophy. Infantile form is characterized by a short lifespan preceded by a relatively long steady progression following the rapid decline. Disease progression is slow in juvenile-onset and protracted in adult-onset patients. Psychosis in juvenile-onset patients, depression and parkinsonism in adult-onset patients are reported in addition to the common clinical symptoms.	Preferred (foundation metadata concept)
A rare neuronal ceroid lipofuscinosis characterised by epilepsy with myoclonic, atonic, and bilateral tonic-clonic seizures, gait disturbance, and language difficulty/delay. Progressive motor and cognitive decline, personality disorders, myoclonus and visual loss are common clinical features become evident later in the disease progress. Age of onset is typically late-infantile, however few juvenile-onset patients are reported.	Preferred (foundation metadata concept)
A rare neuronal ceroid lipofuscinosis characterised by juvenile or protracted juvenile-onset progressive vision loss due to retinal degeneration/retinopathy (which in several patients may precede the onset of neurological symptoms by some years), seizures, progressive cognitive impairment with a precipitous decline to dementia, progressive motor decline with cerebellar, pyramidal and extrapyramidal features. Associated systemic features may include cardiac abnormalities (including conduction abnormalities, ventricular hypertrophy, atrial flutter/fibrillation and symptomatic bradycardia) and autophagic vacuolar myopathy. Seizures in juvenile-onset (also known as the classic form of the disease) patients, develop typically within 2-4 years of the onset of visual deterioration. In protracted form, characterised by combined focal and generalised epilepsy syndrome and progressive neurologic deterioration, seizures and other neurological manifestations appear significantly later compared to classic form and symptoms are milder. This is the most common form of ceroid lipofuscinosis and is widespread across Western countries.	Preferred (foundation metadata concept)
A rare neuronal ceroid lipofuscinosis characterised by motor, cognitive and developmental regression with speech impairment, ataxia, limb weakness, visual impairment (notably retinitis pigmentosa), dysarthria and prosopagnosia. It may present with congenital (the most commonly observed form of the disease), late infantile (3 years) and juvenile-onset (4-8 years), and later stages into adulthood. Congenital form is associated with immediate postnatal onset of epileptic seizures, respiratory failure and limb hypertonia. Neonates have microcephaly with severe atrophy of the cerebrum and cerebellum with myelin deficiency, and retinal dysfunction.	Preferred (foundation metadata concept)
A rare neuronal ceroid lipofuscinosis characterised by neurodevelopmental delay, impaired motor and language skills, progressive dementia, visual deterioration, extrapyramidal signs, progressive gait dysfunction, seizures and brain atrophy. It may present rarely with infantile (2-18 months), classically late infantile (2-4 years) and juvenile-onset (6-10 years). Infantile-onset and late infantile-onset patients are reported to have rapid disease progression leading to complete loss of motor function within 6 years and may be fatal, whereas juvenile onset patients were reported to have milder clinical features including mild learning disability, behaviour abnormalities associated with dementia and progressive cognitive function regression. Extrapyramidal, cerebellar signs, retinal degeneration and vision loss may be observed later in the adulthood. This form is most frequently observed in Southern Europe.	Preferred (foundation metadata concept)
A rare neuronal ceroid lipofuscinosis characterised classically by late infantile-onset (5-10 years) with rapid disease progression, myoclonus, visual loss and progressive intellectual disability (commonly observed within 2-5 years of seizure onset). Spasticity, dystonic posturing, tremors, and other extrapyramidal signs are also reported in these patients. Less frequently, the disease can manifest with intractable tonic-clonic or complex partial seizures without myoclonus, progressive intellectual disability and variable visual deficit, blindness being infrequent. This condition, also known as Northern epilepsy, is milder and slow progressing compared to the classical form of the disease.	Preferred (foundation metadata concept)
A rare neuronal ceroid lipofuscinosis disorder characterised by juvenile-onset of progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and, occasionally the retina, upon postmortem.	Preferred (foundation metadata concept)
A rare non-amyloid monoclonal immunoglobulin deposition disease characterised by production of monoclonal immunoglobulins with truncated heavy chains and no detectable light chains, which are deposited in tissues and cause organ dysfunction, but do not form amyloid beta-pleated sheets or contain an amyloid P component. The condition frequently occurs in association with multiple myeloma. Patients most commonly present with renal involvement (manifesting as hypertension, progressive renal dysfunction, anaemia, and nephrotic syndrome with microhaematuria), but other organs (such as the liver or skin) may also be affected. Production of IgG1 or IgG3 isotypes results in hypercomplementaemia.	Preferred (foundation metadata concept)
A rare non-hereditary condition characterised by gastrointestinal stromal tumours (GIST, intramural mesenchymal tumours of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.	Preferred (foundation metadata concept)
A rare non-hereditary degenerative ataxia disease characterised by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported.	Preferred (foundation metadata concept)
A rare non-histaminic angioedema characterised by potentially life-threatening episodes of oedema of subcutaneous and/or mucosal tissues without urticaria, caused by excessive consumption of C1 esterase inhibitor (C1-INH) in the context of lymphoproliferative or autoimmune diseases. Patients typically present in the fourth decade of life or later and without a family history of angioedema. Clinical manifestation includes nonpitting oedema of the skin predominantly involving the face, but also the limbs or genitals, as well as abdominal pain due to involvement of the gastrointestinal mucosa and severe oedema of the upper airway and oral mucosa. Laboratory examination shows low C1-INH activity and low C3, C4, and C1q levels. Autoantibodies to C1-INH are frequently detectable.	Preferred (foundation metadata concept)
A rare non-inflammatory vasculopathy characterised by intracompartmental pressure typically in a distal upper extremity due to intrauterine ischaemia and external compression. Affected limb presents significant swelling and sentinel skin changes (desquamation, blister/bullae formation, and skin necrosis). It can lead to long-term sequelae including Volkmann contracture, limb length discrepancies, bone growth abnormalities and nerve lesions. Neurologic involvement, ranging from sensory and motor nerve palsies to complete hand paralysis, may persist.	Preferred (foundation metadata concept)
A rare non-progressive form of cone photoreceptor dysfunction syndrome characterised by reduced visual acuity, normal fundus appearance and absent or reduced cone responses on electroretinography. In contrast to all other forms of cone dysfunction colour vision is normal.	Preferred (foundation metadata concept)
A rare non-severe combined immunodeficiency characterised by decreased numbers of T cells (particularly CD8+ T cells) and increased susceptibility to recurrent infections with variable severity (predominantly respiratory viral infections). Additional features may include thymic aplasia/hypoplasia, skin abnormalities including atopic dermatitis, hair loss and nail dystrophy. Symptoms may vary among patients (some patients may develop serious infections) and may ameliorate by age.	Preferred (foundation metadata concept)
A rare non-severe combined immunodeficiency characterised by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinaemia, decreased numbers of regulatory T cells and defects in T-cell functions due to CARD11 deficiency. It presents with severe susceptibility to infections, including opportunistic infections.	Preferred (foundation metadata concept)
A rare non-severe combined immunodeficiency characterised by tumour necrosis factor-dependent chronic mucocutaneous ulcerations and inflammatory bowel disease presenting during the first years of life. Ulcerations occur primarily in the oral, gastrointestinal, and vaginal mucosa.	Preferred (foundation metadata concept)
A rare non-syndromic cerebral malformation due to abnormal neuronal migration characterised by clusters of disorganised neurons in abnormal locations such as periventricular and subcortical. The extent of the lesions ranges from isolated single to bilateral confluent nodules. Paediatric patients typically show variable degrees of developmental delay, intellectual disability, and intractable epilepsy, and concomitant cerebral and/or systemic malformations are frequent. Milder forms may present with onset of seizures in adulthood.	Preferred (foundation metadata concept)
A rare non-syndromic limb malformation characterised by a hand or foot with more than five digits that has a recognisable anterior/posterior axis of symmetry, either with a hallux- or thumb-like structure or an interdigital space in the middle. The most lateral digits on each side typically resemble fifth fingers or toes. The malformation may be unilateral or bilateral and may occur in isolation or in association with other congenital anomalies.	Preferred (foundation metadata concept)
A rare non-syndromic oesophageal malformation characterised by intrinsic narrowing of the oesophagus, caused by congenital malformation of oesophageal wall architecture present at birth. Patients manifest dysphagia and progressive vomiting. Oesophageal food impaction, failure to thrive or respiratory distress can be present. Symptoms are often attributed to colic or reflux, thus diagnosis is often difficult.	Preferred (foundation metadata concept)
A rare non-syndromic syndactyly characterised by a distinctive combination of syndactyly and polydactyly, generally affecting the 3rd and 4th fingers and the 4th and 5th toes, bilaterally, with partial or complete reduplication of a digital ray within the syndactylous web. Additional features include 5th finger clinodactyly, camptodactyly and/or brachydactyly.	Preferred (foundation metadata concept)
A rare non-syndromic syndactyly characterised by complete and bilateral syndactyly between the 4th and 5th fingers. In most cases, it is a soft tissue syndactyly, but occasionally the distal phalanges may be fused. The middle phalanx of the fifth finger is usually hypoplastic, and the feet are not affected.	Preferred (foundation metadata concept)
A rare non-syndromic syndactyly characterised by complete bilateral cutaneous fusion of all fingers, frequently associated with polydactyly (usually involving six digits and six metacarpals). Phalanges may fuse as a conglomerate mass of bones. Feet are occasionally affected.	Preferred (foundation metadata concept)
A rare non-syndromic syndactyly characterised by complete or partial webbing between the 3rd and 4th fingers and/or the 2nd and 3rd toes. Other digits may be involved occasionally. The phenotype varies widely within and between families, sometimes only the hands are affected and sometimes only the feet. Webbing between fingers may be associated with bony fusion of the distal phalanges.	Preferred (foundation metadata concept)
A rare non-syndromic syndactyly characterised by mesoaxial reduction of fingers, complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, malformed thumbs, and hypoplasia and clinodactyly of the 5th finger. Preaxial webbing of toes with terminal phalangeal hypoplasia of all toes has been reported in association.	Preferred (foundation metadata concept)
A rare non-syndromic syndactyly characterised by soft tissue syndactyly of the 3rd and 4th fingers and the 2nd and 3rd toes associated with metacarpal and metatarsal fusion of the 4th and 5th digits. Shortening of fused metacarpals, ulnar deviation of fingers, interdigital cleft, camptodactyly, short distal phalanges, and absent distal interphalangeal creases have also been reported.	Preferred (foundation metadata concept)
A rare non-syndromic syndactyly characterised by unilateral fusion of 2nd to 5th fingers, amalgamation of distal phalanges in a knot-like structure, and fusion of the 2nd and 3rd toe. Some individuals present only with webbing between the 2nd and 3rd toes, without involvement of fingers.	Preferred (foundation metadata concept)
A rare non-syndromic urogenital tract malformation characterised by a dilated ureter and normal bladder and bladder outlet. It may be obstructed, refluxing or unobstructed and not refluxing.	Preferred (foundation metadata concept)
A rare nonhereditary systemic amyloidosis characterised by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease. Cardiac involvement presents as hypertrophic obstructive cardiomyopathy, left ventricular outflow tract obstruction, coronary artery disease and conduction system abnormalities. Histology reveals medullar amyloid deposits, renal tubular atrophy, interstitial fibrosis, and glomerular sclerosis.	Preferred (foundation metadata concept)

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Reference Sets

Reference set descriptor

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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)