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 genetic cardiac disease characterised by variably expressed atrial tachyarrhythmia (such as atrial flutter, paroxysmal or chronic atrial fibrillation, ectopic atrial tachycardia, or multifocal atrial tachycardia), infra-Hisian conduction system disease, and vulnerability to dilated cardiomyopathy. Age of onset ranges between childhood and adulthood.	Preferred (foundation metadata concept)
A rare genetic cardiac malformation characterised by progressive myxomatous degeneration predominantly of the mitral valve (but not uncommonly with multivalvular involvement), presenting as valve thickening and dysfunction with variable stenosis, prolapse, and/or regurgitation, and potentially resulting in lethal heart failure. Hyperextensible skin and joint hypermobility have been reported in some patients. Hemizygous males display a more severe phenotype than heterozygous females.	Preferred (foundation metadata concept)
A rare genetic cause of hypertension characterised by severe early-onset therapy-resistant hypertension due to a gain-of-function mutation in the mineralocorticoid receptor. The condition is associated with suppressed plasma renin activity and low serum aldosterone levels and is markedly exacerbated during pregnancy.	Preferred (foundation metadata concept)
A rare genetic central nervous system malformation characterised by dysplasia of the superior cerebellum (especially the vermis), brainstem asymmetry, dysplasia of the basal ganglia, and cortical irregularities with asymmetric abnormalities in gyral size and orientation, as well as varying sulcal depth, but without lissencephaly, pachygyria, or polymicrogyria. Clinically, patients present global developmental delay with motor development usually being more affected that speech. Variable features are abnormal eye movements including oculomotor apraxia, strabismus, seizures, and behavioural problems.	Preferred (foundation metadata concept)
A rare genetic cerebral small vessel disease characterised by amyloid deposition in the cerebral blood vessels leading to predominantly haemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia.	Preferred (foundation metadata concept)
A rare genetic cerebral small vessel disease characterised by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leucoencephalopathy. Patients may present with migraine, transient ischaemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leucoencephalopathy that is disproportionately severe and extensive compared to the clinical disease.	Preferred (foundation metadata concept)
A rare genetic cerebral small vessel disease characterised by isolated marked tortuosity of second-order and third-order retinal arteries with normal first-order arteries and venous system, typically located in the macular and peripapillary area and developing during childhood or early adulthood. The disease may be asymptomatic, although most patients present variable degrees of transient vision loss due to retinal haemorrhage following physical exertion or minor trauma.	Preferred (foundation metadata concept)
A rare genetic cerebral small vessel disease characterised by leucoencephalopathy and cerebral calcification and cysts due to diffuse cerebral microangiopathy resulting in microcystic and macrocystic parenchymal degeneration. The condition can present at any age from early childhood to late adulthood and manifests as a progressive cerebral degeneration. Symptoms are variable, but restricted to the central nervous systems, and include, among others, slowing of cognitive performance, seizures, and movement disorder with a combination of pyramidal, extrapyramidal, and cerebellar features.	Preferred (foundation metadata concept)
A rare genetic cerebral small vessel disease characterised by progressive loss of visual acuity due to retinal vasculopathy, in combination with more variable neurological signs and symptoms including stroke, cognitive decline, migraine-like headaches, and seizures, among others, typically beginning in middle age. Psychiatric features such as depression and anxiety may also occur. Systemic vascular involvement with Raynaud phenomenon, micronodular liver cirrhosis, and glomerular kidney dysfunction is present in a subset of patients.	Preferred (foundation metadata concept)
A rare genetic cerebral small vessel disease characterised by recurrent ischaemic strokes, often with a predilection for the pons, with typical onset in the fourth or fifth decade of life. Patients present progressive cognitive and motor impairment with pyramidal, bulbar, and cerebellar symptoms, among others. Brain imaging shows multiple lacunar infarcts, typically with involvement of the pons, as well as variable leucoencephalopathy of the cerebral hemispheres.	Preferred (foundation metadata concept)
A rare genetic cerebral small vessel disease characterised by subcortical ischaemic events associated with cognitive decline and gait disturbance with an age of onset typically in the sixth or seventh decade of life. Imaging reveals white matter hyperintensities, status cribrosum, lacunar infarcts, and sometimes microbleeds. Extra-neurological manifestations are absent.	Preferred (foundation metadata concept)
A rare genetic coagulation disorder characterised by marked bleeding tendency and posttraumatic bleeding with easy bruising, soft tissue and muscle bleeding, haemarthroses, and menorrhagia due to an increase of soluble thrombomodulin in plasma with subsequent protein C activation and reduction of thrombin generation within a potential thrombus. Abnormal laboratory findings include markedly elevated plasma thrombomodulin, reduced prothrombin consumption, and decreased thrombin generation.	Preferred (foundation metadata concept)
A rare genetic coagulation disorder characterised by the usually incidental laboratory finding of a prolonged activated partial thromboplastin time (aPTT) but normal prothrombin time, due to a deficiency of normal prekallikrein or the presence of nonfunctional prekallikrein. Most patients remain clinically asymptomatic, although an association with cardiovascular conditions (hypertension, myocardial infarction, other coronary artery diseases, and ischaemic strokes) and venous thrombosis, as well as rare cases with increased bleeding tendency have been reported.	Preferred (foundation metadata concept)
A rare genetic combined T and B cell immunodeficiency characterised by life-threatening infections due to disrupted transferrin receptor 1 endocytosis, resulting in defective cellular iron transport and impaired T and B cell function. Patients present with early-onset chronic diarrhoea, severe recurrent infections, and failure to thrive. Laboratory studies reveal hypo- or agammaglobulinaemia, normal lymphocyte counts but decreased numbers of memory B cells, intermittent neutropenia and thrombocytopenia, and mild anaemia (resistant to iron supplementation) with low mean corpuscular volume.	Preferred (foundation metadata concept)
A rare genetic congenital disorder of glycosylation with characteristics of severe pre and post-natal short stature, joint hyperlaxity with multiple dislocations (elbows, fingers, hips, knees), and facial dysmorphism (round flat face, high forehead, hypertelorism, prominent bulging eyes with under-eye shadows, hypoplastic midface, microstomia, protruding lips). Other associated features may include cutaneous hyperextensibility, learning difficulties and ocular abnormalities. Advanced carpal ossification, widened metaphyses, and, occasionally, radioulnar synostosis, scoliosis and a Swedish key appearance of the proximal femora is observed on imaging.	Preferred (foundation metadata concept)
A rare genetic congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Causative gene mutation is ACTA1 (1q42.13).	Preferred (foundation metadata concept)
A rare genetic congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Causative gene mutation is TPM3 (1q21.3).	Preferred (foundation metadata concept)
A rare genetic congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Caused by SELENON (1p36.11) gene mutation.	Preferred (foundation metadata concept)
A rare genetic congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Caused by homozygous mutation in the ZAK gene on chromosome 2q31.	Preferred (foundation metadata concept)
A rare genetic cranial malformation with characteristics of unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure.	Preferred (foundation metadata concept)
A rare genetic dermis disorder characterised by slowly progressive thickening of the scalp, which becomes raised and forms ridges and furrows with symmetrical distribution resembling the cerebral gyri and cannot be flattened by traction or pressure, associated with ophthalmologic (e.g. congenital cataract) and/or neurological abnormalities (e.g. intellectual disability, epilepsy, microcephaly, encephalopathy).	Preferred (foundation metadata concept)
A rare genetic developmental and epileptic encephalopathy (DEE) characterised by developmental delay, generalised epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD).	Preferred (foundation metadata concept)
A rare genetic developmental and neurological disorder characterised by the association of partial bilateral aniridia (or iris hypoplasia), with non-progressive cerebellar ataxia, intellectual disability, and congenital hypotonia.	Preferred (foundation metadata concept)
A rare genetic developmental defect during embryogenesis characterised by the association of the classic features of Joubert syndrome (congenital midbrain-hindbrain malformations causing hypotonia, abnormal breathing and eye movements, ataxia and cognitive impairment) together with the skeletal anomalies of Jeune asphyxiating thoracic dystrophy (short ribs, long and narrow thorax causing respiratory failure, short-limbs, short stature, and polydactyly). Additional variable manifestations include cystic kidneys, liver fibrosis, and retinal dystrophy.	Preferred (foundation metadata concept)
A rare genetic disease characterised by CD55 deficiency with complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy with abdominal pain, diarrhoea, vomiting, primary intestinal lymphangiectasia, hypoproteinaemic oedema, and malabsorption, leading to anaemia and growth delay. Bowel inflammation and recurrent infections associated with hypogammaglobulinaemia may also be observed.	Preferred (foundation metadata concept)
A rare genetic disease characterised by a highly variable phenotype comprising ocular anomalies (congenital glaucoma, myopia, retinal detachment, and/or Axenfeld-Rieger anomaly), congenital hypothyroidism, hearing loss, microcephaly, dental defects, kidney anomalies, cerebrovascular anomalies, and distal limb anomalies. Dysmorphic facial features may include square face with prominent jaw, broad flat nasal bridge, short philtrum, and prominent ears.	Preferred (foundation metadata concept)
A rare genetic disease characterised by a variable clinical phenotype which includes similar features but is typically less severe than in affected males. Patients may present with mild to borderline intellectual disability, anxiety, social phobia, selective mutism, attention deficit hyperactivity disorder, language deficit, neurologic signs and symptoms (such as seizures, hypotonia, and clonus), ophthalmologic anomalies (strabismus, refractive errors), and facial dysmorphism (including long face, prominent forehead, large, prominent ears, and mandibular prognathism).	Preferred (foundation metadata concept)
A rare genetic disease characterised by abnormalities in renal ion transport, ectodermal gland homeostasis, and epidermal integrity, resulting in generalised hypohidrosis, heat intolerance, salt-losing nephropathy, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia. Development of nephrolithiasis and severe enamel wear have also been described. Laboratory findings include hypermagnesaemia, hypokalaemia, hypercalcaemia, and hypocalciuria.	Preferred (foundation metadata concept)
A rare genetic disease characterised by bilateral Duane retraction syndrome type 3 (consisting of severe limitation of abduction, restriction of adduction, retraction of the globe, and narrowing of the palpebral fissure) and congenital myopathy manifesting as mild non-progressive hypotonia without muscular weakness, as well as delayed motor milestones, severe early-onset scoliosis, and short stature. Intelligence is normal.	Preferred (foundation metadata concept)
A rare genetic disease characterised by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Haematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukaemia.	Preferred (foundation metadata concept)
A rare genetic disease characterised by childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities.	Preferred (foundation metadata concept)
A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.	Preferred (foundation metadata concept)
A rare genetic disease characterised by co-occurrence of sick sinus syndrome (manifesting as sinus bradycardia, often requiring pacemaker implantation) and chronic intestinal pseudo-obstruction (which may be of myogenic or neurogenic origin and usually requires total parenteral nutrition), with an age of onset within the first four decades of life. Other cardiac features, such as atrial flutter or fibrillation and valve anomalies, may also be present.	Preferred (foundation metadata concept)
A rare genetic disease characterised by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.	Preferred (foundation metadata concept)
A rare genetic disease characterised by congenital contractures of the distal interphalangeal joints, progressive stiffness of the shoulders and neck, keloid scarring, increased optic cup-to-disc ratio, and renal stones. Additional reported features include arthritis, osteoporosis, hypoplastic flexion creases, clinodactyly, anxiety, and facial dysmorphism (such as sloping forehead, prominent supraorbital ridges, downslanting palpebral fissures, prominent ears, and high arched palate). Female carriers exhibit a variable, milder phenotype.	Preferred (foundation metadata concept)
A rare genetic disease characterised by congenital oculocutaneous hypopigmentation, visual impairment, generalised osteoporosis with skeletal anomalies such as short stature, short neck and trunk, kyphosis, scoliosis, and platyspondyly, and dysmorphic facial features (including long philtrum, small mouth, micrognathia, and prominent ears). Moderate joint hyperelasticity and muscular hypotrophy have also been reported.	Preferred (foundation metadata concept)
A rare genetic disease characterised by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anaemia, and intellectual disability. There have been no further descriptions in the literature since 1991.	Preferred (foundation metadata concept)
A rare genetic disease characterised by early-onset respiratory difficulties and frequent respiratory infections, congenital heart defects, dysostosis multiplex, hepatosplenomegaly, renal involvement, haematopoietic abnormalities, facial dysmorphism (coarse facial features, large forehead, synophrys, long eyelashes, broad nasal bridge, macroglossia, short neck, and low hairline), and global developmental delay. Laboratory examination shows increased urinary excretion of glycosaminoglycans and increased plasma heparan sulfate, but no lysosomal enzyme deficiency. The disease is usually fatal in the first years of life.	Preferred (foundation metadata concept)
A rare genetic disease characterised by early-onset severe obesity due to mutations in single genes acting on the development and function of the hypothalamus or the leptin-melanocortin pathway, leading to disruption of energy homeostasis and endocrine dysfunction. Patients present with a body mass index over three standard deviations above normal at less than five years of age, accompanied by a variety of signs and symptoms according to the mutated gene, including hyperphagia, insulin resistance, reduced basal metabolic rate, or hypogonadism, among others.	Preferred (foundation metadata concept)
A rare genetic disease characterised by frequent infections associated with neutropenia and IgA deficiency, in combination with osteoporosis and skeletal anomalies, such as posterior spinal arch fusion defect, metacarpal subluxation, syndactyly, and camptodactyly. Reported dysmorphic features include synophrys, anteverted nostrils, and single palmar crease. There have been no further descriptions in the literature since 1972.	Preferred (foundation metadata concept)
A rare genetic disease characterised by global developmental delay with language and cognition deficiencies, behavioural problems, osteopenia, joint laxity, skin defects consisting of hyperkeratosis and sweat gland and melanocyte abnormalities with hypopigmented areas, and abnormal hair structure. Mild facial dysmorphism (prominent forehead, thick eyebrows, epicanthal folds, broad nasal bridge, long philtrum, and micrognathia), abnormalities of the teeth, and skeletal and cardiac anomalies have also been described.	Preferred (foundation metadata concept)
A rare genetic disease characterised by infantile onset of recurrent skin ulcerations, arthralgias, fever, peri-articular fistulous osteolysis, oligodontia, nail dystrophy, and keratitis. The disease takes a self-limiting course in childhood but results in severe cicatrisation, chronic arthroses, pseudoacromegalic appearance of hands and feet, secondary scoliosis, and visual impairment. There have been no further descriptions in the literature since 1983.	Preferred (foundation metadata concept)
A rare genetic disease characterised by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhoea and failure to thrive, and central nervous system disease with global developmental delay and regression, impaired speech, hypotonia, hyperreflexia, and epilepsy. Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination, and posterior leucoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation, as well as decreased T-cell subsets, have been reported.	Preferred (foundation metadata concept)
A rare genetic disease characterised by infantile or childhood onset of abnormal growth of hyalinised fibrous tissue, giving rise to multiple cutaneous nodules and/or pearly papules predominantly affecting the scalp, ears, neck, face, hands, and feet. Involvement of other organs results in gingival hyperplasia, osteolytic bone lesions, and joint contractures. Some patients exhibit visceral involvement with intractable diarrhoea, increased susceptibility to infections, and severe failure to thrive.	Preferred (foundation metadata concept)
A rare genetic disease characterised by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastro-oesophageal reflux. The severity of the phenotype is highly variable.	Preferred (foundation metadata concept)
A rare genetic disease characterised by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others.	Preferred (foundation metadata concept)
A rare genetic disease characterised by juvenile-onset insulin-dependent diabetes mellitus associated with central and peripheral nervous system abnormalities with variable onset between infancy and adolescence. Neurological manifestations include combined cerebellar and afferent ataxia, sensorineural hearing loss, pyramidal tract signs, and demyelinating sensorimotor peripheral neuropathy. Hypothyroidism has been reported in some patients. Brain imaging may show generalised cerebral atrophy.	Preferred (foundation metadata concept)
A rare genetic disease characterised by lethal non-spherocytic, non-immune haemolytic anaemia, in association with abnormalities of the external genitalia (such as micropenis and hypospadias). Reported dysmorphic features include flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. There have been no further descriptions in the literature since 1995.	Preferred (foundation metadata concept)
A rare genetic disease characterised by microcephaly, global developmental delay, intellectual disability, abnormal muscle tone, and sensorineural hearing impairment. Additional variable manifestations include epilepsy, cortical visual impairment, gastrointestinal disturbances, growth restriction, scoliosis, as well as immunodeficiency and thrombocytopenia. Brain imaging may show cerebral atrophy, thin corpus callosum, and hypomyelination.	Preferred (foundation metadata concept)
A rare genetic disease characterised by mild intellectual deficit, congenital cataract, progressive sensorineural hearing impairment, ataxia, peripheral neuropathy, and short stature. There have been no further descriptions in the literature since 1991.	Preferred (foundation metadata concept)
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981.	Preferred (foundation metadata concept)
A rare genetic disease characterised by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalised T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood.	Preferred (foundation metadata concept)
A rare genetic disease characterised by onset of neurological deterioration in the first two years of life, progressing to severe intellectual disability, profound ataxia, mild dyskinesia, axial hypotonia, camptocormia, and oculomotor apraxia. Some patients also develop nephropathy with features of tubulointerstitial nephritis, hypertension, and a tendency for hyperkalaemia.	Preferred (foundation metadata concept)
A rare genetic disease characterised by patients presenting with a multitude of clinical features of Proteus syndrome without meeting the diagnostic criteria for the disease.	Preferred (foundation metadata concept)
A rare genetic disease characterised by pre- and postnatal growth restriction, developmental delay, adrenal hypoplasia, genital abnormalities (such as microphallus, hypospadias, or cryptorchidism), thrombocytopenia and/or anaemia, recurrent severe invasive infections, and enteropathy with chronic diarrhoea. Myelodysplastic syndrome and dysmorphic features (including downslanting palpebral fissures, low-set and posteriorly rotated ears, anteverted nares, camptodactyly, and arachnodactyly, among others) may also be observed.	Preferred (foundation metadata concept)
A rare genetic disease characterised by progressive and severe sensorineural hearing loss with onset in the first decade of life, associated with mild thrombocytopenia, often with enlarged platelets. Most patients do not show significant bleeding tendency.	Preferred (foundation metadata concept)
A rare genetic disease characterised by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs.	Preferred (foundation metadata concept)
A rare genetic disease characterised by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leuconychia and presence of transverse ridges). Association with macular dystrophy has also been reported.	Preferred (foundation metadata concept)
A rare genetic disease characterised by severe pre- and postnatal growth failure with short stature and microcephaly, facial dysmorphism (including a small jaw and prominent midface), severe insulin resistance, fatty liver, and hypertriglyceridaemia developing in childhood, and primary gonadal failure. Mild global learning difficulties and acanthosis nigricans have also been reported.	Preferred (foundation metadata concept)
A rare genetic disease characterised by severe progressive sensorineural hearing loss and progressive cerebellar signs including gait ataxia, action tremor, dysmetria, dysdiadochokinesis, dysarthria, and nystagmus. Absence of deep tendon reflexes has also been reported. Age of onset is between infancy and adolescence. Brain imaging may show variable cerebellar atrophy in some patients.	Preferred (foundation metadata concept)
A rare genetic disease characterised by the association of Fanconi syndrome and nephrocalcinosis in addition to neonatal hyperinsulinism and macrosomia. Patients display a phenotype of proximal tubulopathy characterised by generalised aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricaemia, and additional features not normally seen in Fanconi syndrome (apart from nephrocalcinosis), namely renal impairment, hypercalciuria with relative hypocalcaemia, and hypermagnesaemia.	Preferred (foundation metadata concept)
A rare genetic disease characterised by the association of Klippel-Feil anomaly (fusion of the cervical spine), myopathy, hypotonia, short stature, microcephaly, and facial dysmorphism (including low-set ears, bulbous nose, long philtrum, high-arched palate, and low posterior hairline, among others). Cardiac abnormalities and various skeletal anomalies (such as pectus excavatum or clinodactyly) have also been reported.	Preferred (foundation metadata concept)
A rare genetic disease characterised by the association of epilepsy, ataxia, sensorineural hearing impairment, and renal tubulopathy. Patients present in infancy with generalised seizures, cerebellar dysfunction (including gait ataxia, intention tremor, and dysdiadochokinesis), and variable developmental delay and sensorineural hearing loss. Laboratory studies show persistent hypokalaemic metabolic acidosis with hypomagnesaemia. Additional reported neurologic features include brisk deep tendon reflexes, ankle clonus, extensor plantar responses, or nystagmus.	Preferred (foundation metadata concept)
A rare genetic disease characterised by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anaemia. There have been no further descriptions in the literature since 1977.	Preferred (foundation metadata concept)
A rare genetic disease characterised by the association of unilateral complete or partial lung agenesis, complex congenital cardiac anomalies such as atrial septal defect, total anomalous pulmonary venous return, or patent ductus arteriosus, and ipsilateral or bilateral thumb abnormalities. Presence of facial dysmorphism and other malformative features has also been reported.	Preferred (foundation metadata concept)
A rare genetic disease characterised by the association of unilateral or bilateral short fifth metacarpals (defined as a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpals), insulin resistance, and spherocytosis. Familial short stature has not been reported as part of the syndrome.	Preferred (foundation metadata concept)
A rare genetic disease characterised by the presence of Müllerian duct derivatives (rudimentary uterus, fallopian tubes, and atretic vagina) and other genital anomalies (cryptorchidism, micropenis) in male newborns, intestinal and pulmonary lymphangiectasia, protein-losing enteropathy, hepatomegaly, and renal anomalies. Postaxial polydactyly, facial dysmorphism (including broad nasal bridge, bulbous nasal tip, long and prominent upper lip with smooth philtrum, hypertrophic alveolar ridges, and mild retrognathia, among other features), and short limbs have also been described. The syndrome is fatal in infancy.	Preferred (foundation metadata concept)
A rare genetic disease characterised by the presence of multiple café-au-lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre- and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy, and symptomatic gastro-oesophageal reflux have also been described, while malar rash is typically absent.	Preferred (foundation metadata concept)
A rare genetic disease characterised by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature greying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome.	Preferred (foundation metadata concept)
A rare genetic disease characterised by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and oesophageal leucokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the oesophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection.	Preferred (foundation metadata concept)
A rare genetic disease characterised by variable multiple congenital craniofacial anomalies, including brachycephaly, cranium bifidum occultum, hypertelorism, midface hypoplasia, nasal hypoplasia, or cleft lip/palate, among others, as well as abnormalities of the eyes and eyelids. Encephalocele and spina bifida have also been reported in association.	Preferred (foundation metadata concept)
A rare genetic disease which is a rare form of porokeratosis occurring mainly in adolescence and characterised by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually spread to other body zones.	Preferred (foundation metadata concept)
A rare genetic disorder caused by deletions in the long arm of chromosome 11 (11q) and mainly characterised by craniofacial dysmorphism, congenital heart disease, intellectual disability, Paris Trousseau bleeding disorder, structural kidney defects and immunodeficiency.	Preferred (foundation metadata concept)
A rare genetic disorder characterised by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.	Preferred (foundation metadata concept)
A rare genetic disorder characterised by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.	Preferred (foundation metadata concept)
A rare genetic disorder characterised by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit.	Preferred (foundation metadata concept)
A rare genetic disorder characterised by the association of complete or partial congenital aniridia (and associated eyes abnormalities), genitourinary anomalies (ranging from sexual ambiguity to ectopic testis), variable degrees of intellectual disability and an increased risk of developing Wilms tumours. A minority of patients develop kidney failure. Other variable findings may include obesity and duplicated halluces.	Preferred (foundation metadata concept)
A rare genetic disorder involving multiple structures of the eye. The disease is characterised by a combination of congenital aphakia and pan ocular anomalies including iris hypoplasia, microphthalmia, and microcornea. Other ophthalmological features may include nystagmus, glaucoma, strabismus, congenital leukocoria, anterior persistent fetal vasculature and posterior segment anomalies (e.g. optic nerve and foveal hypoplasia, intravitreous haemorrhages). No extraocular manifestations are observed.	Preferred (foundation metadata concept)
A rare genetic disorder of magnesium transport characterised by infantile onset of generalised seizures and severe hypomagnesaemia due to massive renal magnesium wasting. Seizures persist despite magnesium supplementation and are associated with significant global developmental delay and intellectual disability. Brain MRI may show reduced cerebral volume.	Preferred (foundation metadata concept)
A rare genetic disorder with difference of sex development characterised by primary amenorrhoea, short stature, delayed bone age, decreased levels of estradiol, elevated levels of follicle-stimulating hormone and luteinising hormone, absent or underdeveloped uterus and ovaries, delayed development of pubic and axillary hair, and normal 46,XX karyotype.	Preferred (foundation metadata concept)
A rare genetic dystonia characterised by focal or segmental isolated dystonia involving the face, neck, upper limbs (commonly writing dystonia), larynx, or trunk, with an onset from childhood to early adulthood. Dystonia may be tremulous, giving rise to head or hand tremor. Mode of inheritance is autosomal recessive.	Preferred (foundation metadata concept)
A rare genetic ectodermal dysplasia syndrome characterised by woolly hair (presenting at birth), palmoplantar keratoderma (developing in the first year of life) and dilated cardiomyopathy with predominant left ventricle involvement (developing in childhood) which can lead to life-threatening heart failure in childhood or adolescence.	Preferred (foundation metadata concept)
A rare genetic endocrine disease characterised by early onset of severe intractable diarrhoea and intestinal malabsorption, followed by obesity and hormonal deficiencies due to insufficient activation of several prohormones, resulting in hypocortisolism, hypothyroidism, diabetes insipidus, hypogonadism, growth deficiency, and diabetes mellitus. Extent and age of onset of hormone deficiencies are variable between patients.	Preferred (foundation metadata concept)
A rare genetic endocrine disease characterised by intrauterine growth restriction, failure of an adolescent growth spurt with proportional adult short stature, insulin resistance, and early adulthood-onset diabetes. Minimal subluxation of the fifth metacarpal-phalangeal joint has been reported, while metaphyseal dysplasia is absent. Testicular volume is low, but fertility is normal. There is no evidence of primary adrenal insufficiency.	Preferred (foundation metadata concept)
A rare genetic endocrine disorder with characteristics of type 1 diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Type 1 has onset in the first decade with diabetes mellitus and optic atrophy manifestations. 50% of patients also develop diabetes insipidus. Additional features may include urinary tract abnormalities, neurological involvement and psychiatric manifestations. Caused by caused by homozygous or compound heterozygous mutation in the gene encoding wolframin (WFS1) on chromosome 4p16. Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A rare genetic endocrine disorder with characteristics of type 1 diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Type 2 patients present early with optic atrophy, diabetes mellitus, deafness and decreased lifespan but without diabetes insipidus. Caused by homozygous mutation in the CISD2 gene on chromosome 4q24. Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A rare genetic epidermal disorder characterised by congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophilia, nystagmus, growth impairment and cardiac defects.	Preferred (foundation metadata concept)
A rare genetic epilepsy characterised by relatively large head circumference or macrocephaly, diminished or absent deep-tendon reflexes and mild gross motor delay in infancy, followed by intractable focal seizures with language regression, behavioural abnormalities (hyperactivity, attention deficit, aggressive/autoaggressive behaviour, autistic features) and intellectual disability later in life.	Preferred (foundation metadata concept)
A rare genetic epilepsy syndrome characterised by infantile or childhood onset of focal motor seizures remitting with age, as well as childhood onset of exercise-induced dystonia which often persists into adulthood. Additional reported features include nystagmus and postural tremor of the hands.	Preferred (foundation metadata concept)
A rare genetic eye disease characterised by abnormal proliferation of retinal tissue resulting in the formation of retinal folds, thereby causing gliosis and, clinically, variable degrees of visual impairment. No clinical findings other than those associated with the eyes have been demonstrated.	Preferred (foundation metadata concept)
A rare genetic eye disease characterised by congenital cataract, microcornea, and corneal opacity, resulting in severe visual impairment or blindness. Depending on the genetic background, other developmental ocular defects may also be present.	Preferred (foundation metadata concept)
A rare genetic eye disease characterised by congenital profound excavation of the optic nerve head with diminished visual field, in the absence of elevated intraocular pressure. Many patients lack a well-formed retinal artery and have multiple radial cilioretinal arteries instead. The condition is mostly bilateral, may worsen progressively, and is often complicated by serous macular detachment with profound visual loss.	Preferred (foundation metadata concept)
A rare genetic eye disease characterised by microcornea, coloboma of the iris and the optic disc, axial enlargement of the globe, staphyloma, and severe myopia. Additional manifestations are mild cornea plana, iridocorneal angle abnormalities with elevation of intraocular pressure, and shallow anterior chamber depth. Variable expressivity of the phenotype has been described, including unilateral or bilateral involvement, or variable extent of coloboma, among other features.	Preferred (foundation metadata concept)
A rare genetic eye disease characterised by optic disc anomalies (bilateral colobomatous optic discs, retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity.	Preferred (foundation metadata concept)
A rare genetic female infertility characterised by oocyte maturation arrest during any of the various stages of meiosis I or II. In some patients, first polar body oocytes may be retrieved, but these either show fertilisation failure or early embryonic arrest. Affected women have regular menstrual cycles.	Preferred (foundation metadata concept)
A rare genetic gastroenterological disease characterised by infantile or childhood onset of severe gastrointestinal inflammation. Patients present with a variable phenotype including fever, diarrhoea, failure to thrive, oral ulcers, fistulating perianal disease, strictures, granulomatous colitis, and recurrent bacterial and viral infections.	Preferred (foundation metadata concept)
A rare genetic gastroenterological disease characterised by severe, refractory intestinal inflammation with mucosal erosions and ulcerations potentially involving the small and large intestine. Epithelioid granulomas are typically absent. Patients present with severe diarrhoea, abdominal pain, vomiting, rectal bleeding, and weight loss.	Preferred (foundation metadata concept)
A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.	Preferred (foundation metadata concept)
A rare genetic haematologic and intestinal disease characterised by childhood onset of bleeding tendency with epistaxis, gum bleeding, gastrointestinal bleeding, haematuria, and menorrhagia due to impaired platelet aggregation and secretion, as well as recurrent gastrointestinal ulcer. Mildly reduced levels of coagulation factor XI have been reported in addition.	Preferred (foundation metadata concept)
A rare genetic haematologic disease characterised by decreased or undetectable serum L-ferritin with otherwise normal laboratory parameters. Clinical signs and symptoms include generalised seizures, atypical restless leg syndrome, mild neuropsychologic impairment, and progressive hair loss. Asymptomatic cases have also been reported.	Preferred (foundation metadata concept)
A rare genetic haematologic disease characterised by mild chronic haemolytic anaemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinaemia. Other cells and tissues are not affected.	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)