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, hereditary, cerebellar ataxia disorder characterised by late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia, and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging.	Preferred (foundation metadata concept)
A rare, hereditary, congenital limb malformation characterised by polydactyly with crossed involvement of hands and feet with no other associated malformations or anomalies. Patients present with a combination of unilateral or bilateral preaxial polydactyly of hands with postaxial polydactyly of feet or postaxial polydactyly of hands with preaxial polydactyly of feet. Additional manifestations include bilateral cutaneous syndactyly of first, second and third toes and occasionally cutaneous syndactyly of hands.	Preferred (foundation metadata concept)
A rare, hereditary, developmental defect with connective tissue involvement characterised by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.	Preferred (foundation metadata concept)
A rare, hereditary, familial primary hyperparathyroidism disease characterised by primary hyperparathyroidism due to single or multiple parathyroid tumours in at least two first-degree relatives in the absence of evidence of other endocrine disorders, tumours and/or systemic manifestations.	Preferred (foundation metadata concept)
A rare, hereditary, haematologic disease characterised by an increase in haemoglobin, haematocrit and erythrocyte mass resulting in plethora or ruddy complexion, headache, dizziness, tinnitus and exertional dyspnoea. In some cases, thrombophlebitis and arthralgia have also been reported.	Preferred (foundation metadata concept)
A rare, hereditary, immune deficiency with skin involvement characterised by early-onset cold urticaria after generalised exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease.	Preferred (foundation metadata concept)
A rare, hereditary, non-syndromic form of vitreoretinopathy characterised by retinal tears due to abnormal vitreous, and commonly present refractive errors. No other signs or symptoms of Stickler syndrome is present.	Preferred (foundation metadata concept)
A rare, idiopathic nephrotic syndrome characterised by paediatric onset of proteinuria, hypoalbuminaemia and oedema. Patients respond successfully to the initial standard course of corticosteroids but are resistant to standard therapy for a subsequent relapse and following this relapse remain steroid-resistant.	Preferred (foundation metadata concept)
A rare, idiopathic nephrotic syndrome characterised by the triad of proteinuria, hypoalbuminaemia and oedema in patients who do not respond, or only partially respond, to the initial trial of corticosteroids. Patients may be multidrug resistant or may be sensitive to second-line immunosuppressive therapy.	Preferred (foundation metadata concept)
A rare, idiopathic skin disease characterised by widespread, congenital, superficial erosions and vesicles (often involving more than 75% of the body) which heal leaving scars with a supple, symmetrical, reticulated pattern, frequently resulting in cicatricial alopecia and hyperthermia and/or hypohidrosis. Nail anomalies, neurodevelopmental and ophthalmologic abnormalities, tongue atrophy and preterm birth, with or without history of chorioamnionitis, are commonly associated.	Preferred (foundation metadata concept)
A rare, inflammatory eye disease characterised by IgG4-immunopositive lymphocyte and plasmacyte infiltration and collagenous fibrosis of affected tissue and elevated serum levels of IgG4. Clinical presentation includes mass lesion or swelling of the involved structures, commonly involving lacrimal gland and duct, infraorbital and supraorbital nerves, extraocular muscles and orbital soft tissues. A systemic involvement is common.	Preferred (foundation metadata concept)
A rare, inherited bleeding disorder characterised by defective platelet adhesion and secondary coagulation defect that manifests as abnormal bleeding of variable severity occurring either spontaneously or in association with an invasive procedure. Three main subtypes are defined based on the type of von Willebrand factor defect: partial (type 1) or total (type 3) deficiency, and qualitative/functional anomalies (type 2).	Preferred (foundation metadata concept)
A rare, inherited cancer-predisposing syndrome characterised by an early development of cutaneous telangiectasia, mild dental and nail anomalies, patchy alopecia over the affected skin areas and increased lifetime risk for oropharyngeal cancer. Other types of cancer have also been reported.	Preferred (foundation metadata concept)
A rare, inherited disorder characterised by widespread calcifications of basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease.	Preferred (foundation metadata concept)
A rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterised by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leucodystrophy, delayed myelination and basal ganglia involvement.	Preferred (foundation metadata concept)
A rare, inherited, epidermolysis bullosa characterised by aplasia cutis congenita on the extremities, leaving behind hypopigmentation and atrophy in a whirled pattern. Generalised blistering persists during childhood and heals with cutaneous and follicular atrophy, linear and stellate scars, and hypopigmentation. Skin fragility decreases with adulthood. Adult patients exhibit dyspigmentation and atrophy of the skin, scars, follicular atrophoderma, sparse body hair, progressive diffuse alopecia of the scalp, diffuse palmoplantar keratoderma, and nail changes. Dilated cardiomyopathy with heart failure complicates the disease course in young adulthood or later and may have lethal outcome. Ultra-structurally, intraepidermal splitting appears at the level of the basal keratinocytes, above the hemidesmosomes.	Preferred (foundation metadata concept)
A rare, inherited, epidermolysis bullosa simplex characterised by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. Onset of the disease is usually at birth.	Preferred (foundation metadata concept)
A rare, inherited, epidermolysis bullosa simplex characterised by generalised severe blistering with widespread congenital absence of skin and pyloric atresia that is usually fatal in infancy. Antenatally, pyloric atresia can manifest with polyhydramnios. If patients survive, they experience life-long skin fragility and nail dystrophy. Additional extracutaneous findings include failure to thrive, anaemia, sepsis, intraoral blistering, enamel hypoplasia, urethral stenosis and urologic complications.	Preferred (foundation metadata concept)
A rare, inherited, epidermolysis bullosa simplex characterised by mild, generalised trauma-induced scale crusts and intermittent blistering, sometimes combined with erosions, recovering with slight scarring and post-inflammatory hyperpigmentation. Clinical symptoms improve with age.	Preferred (foundation metadata concept)
A rare, inherited, epidermolysis bullosa simplex characterised by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.	Preferred (foundation metadata concept)
A rare, inherited, epidermolysis bullosa simplex characterised by neonatal onset of generalised or, less frequently, localised acral blistering. Milia are rare but atrophic scarring and dystrophic nails usually occur, along with focal keratoderma (palms and soles). Severe generalised blistering may cause perinatal death or persist during the entire life. Extracutaneous involvement is common, including anaemia, growth retardation, oral cavity abnormalities (blisters and erosions, and caries) and constipation.	Preferred (foundation metadata concept)
A rare, isolated nail anomaly characterised by brittle, thin, rough, opaque appearing nails with excessive longitudinal ridging. In a less severe form, the nails retain their luster and present with superficial ridging and multiple small geometric pits. In both varieties, superficial scaling of the nail plate and hyperkeratosis of the cuticles, as well as koilonychia and onychoschizia are observed. Any number of nails may be affected, and fingernails are more often affected than toenails. Spontaneous improvement of the condition may occur.	Preferred (foundation metadata concept)
A rare, isolated nail anomaly characterised by claw-shaped, thick, hyperplastic, hard and hyperpigmented nails, subungual hyperkeratosis, onycholysis and slow nail growth. Variable degree of disease severity has been reported.	Preferred (foundation metadata concept)
A rare, isolated, congenital, head and neck morphological anomaly characterised by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. Although isolated in the majority of cases, newborns presenting with this morphological anomaly should be referred for further screening for 22q11.2 deletion syndrome and/or other coexisting cardiovascular, musculoskeletal, cervicofacial, respiratory, genitourinary and endocrine anomalies.	Preferred (foundation metadata concept)
A rare, late adult-onset myofibrillar myopathy characterised by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.	Preferred (foundation metadata concept)
A rare, life-threatening developmental defect during embryogenesis characterised by polysyndactyly of fingers and toes as well as complex congenital heart defects (e.g. atrioventricular septal defects, aortic dextroposition, single ventricle, hypo- or hypertrophy of one side of the heart). Additional features may include dysmorphic traits (large fontanel, high forehead, ptosis, hypertelorism, epicanthus, low-set malformed ears, prominent root of the nose, bulbous nose, anteverted nares, long and smooth philtrum, thin upper lip, micrognathism, hirsutism, single transverse crease) nail hypoplasia, phalange agenesis/hypoplasia, flexion contractures, polysplenia, multiple hepatic/renal cysts, atrophic biliary vesicle, ductal plate malformation and genital anomalies (e.g. micropenis, undescended testes, hypoplastic scrotum). The syndrome is usually fatal in utero or in infancy, but survival cases have been reported.	Preferred (foundation metadata concept)
A rare, life-threatening, congenital, non-syndromic, conotruncal heart malformation disease characterised by absent or severely undeveloped pulmonary valve leaflets (with a restrictive ring of thickened tissue at the place of the pulmonary valve annulus), associated with an intact ventricular septum and a patent ductus arteriosus, manifesting with marked respiratory insufficiency. Additional features include dilated main pulmonary artery (with or without dilatation of pulmonary artery branches), to-and-fro flow at site of the dysplastic pulmonary valve, and systolic pressure gradient across narrowed pulmonary valve. Tricuspid atresia and variable extra-cardiac anomalies (e.g. diaphragmatic hernia or cleft lip/palate), may be present.	Preferred (foundation metadata concept)
A rare, life-threatening, cutaneous disease characterised by a keratinocytic epidermal naevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period.	Preferred (foundation metadata concept)
A rare, life-threatening, genetic coagulation disorder characterised by an increased risk of blood clot formation in several members of a family due to a thrombomodulin gene mutation. Patients may manifest with venous thromboembolic disease, premature myocardial infarction and/or arterial thrombosis.	Preferred (foundation metadata concept)
A rare, life-threatening, mitochondrial DNA depletion syndrome disease characterised by severe, progressive sensorimotor neuropathy associated with corneal ulceration, scarring or anaesthesia, acral mutilation, metabolic and immunologic derangement, and hepatopathy (which can manifest with fulminant hepatic failure, a Reye-like syndrome or indolent progression to liver cirrhosis, depending on clinical form involved), present in the Navajo Native American population. Clinical presentation includes failure to thrive, distal limb weakness with reduced sensation, limb contractures with loss of function, areflexia, recurrent metabolic acidosis with intercurrent illness, immunologic anomalies manifesting with severe systemic infections, and sexual infantilism.	Preferred (foundation metadata concept)
A rare, life-threatening, non-inflammatory vasculopathy characterised by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually causes tissue necrosis. Depending on the affected organ, patients may present with dyspnoea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death. The disease predominantly affects patients with end-stage kidney disease (ESKD) on dialysis.	Preferred (foundation metadata concept)
A rare, life-threatening, non-inflammatory vasculopathy characterised clinically by progressive and painful skin lesions associated with calcification of cutaneous arterial microvessels. Calciphylaxis predominantly affects patients with end-stage kidney disease (ESKD) on dialysis.	Preferred (foundation metadata concept)
A rare, localised variant of Guillain-Barré syndrome characterised by rapidly progressive bilateral facial nerve palsy, distal paresthesias, and minimal or no motor weakness. Deep tendon reflexes are usually diminished or absent but can be present or even exaggerated in rare cases. CSF analysis may reveal albuminocytologic dissociation. Nerve conduction velocity studies often show demyelinating type of neuropathy, although axonal polyneuropathy has been also described.	Preferred (foundation metadata concept)
A rare, locally invasive or malignant, urogenital tumour characterised by a gland-forming epithelial neoplasm arising from paratesticular structures, typically manifesting with a palpable scrotal mass, with or without hydrocele, and/or testicular pain.	Preferred (foundation metadata concept)
A rare, major congenital malformation characterised by complete duplication of the nose resulting in two fully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair.	Preferred (foundation metadata concept)
A rare, malignant germ cell tumour that occur in the midline of the body as a result of abnormal germ cell migration during embryogenesis. Clinical manifestations are variable and depend on the location and size of the tumour. Central nervous system tumour might present with headache, visual disturbances, endocrine abnormalities, and signs of increased intracranial pressure. A mediastinal tumour commonly presents with chest pain, dyspnoea, cough and fever. Abdominal mass with or without pain, backache and weight loss are common clinical presentations in retroperitoneal tumour.	Preferred (foundation metadata concept)
A rare, malignant, neoplastic disease characterised by clonal proliferation of myeloid and/or lymphoid precursors harbouring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukaemia or, less commonly, as acute myeloid leukaemia or T-lymphoblastic leukaemia with eosinophilia. Patients usually present with eosinophilia, anaemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy.	Preferred (foundation metadata concept)
A rare, mild subtype of autosomal dominant limb-girdle muscular dystrophy characterised by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.	Preferred (foundation metadata concept)
A rare, mitochondrial DNA maintenance syndrome characterised by early-onset cerebellar ataxia, and variable combination of epilepsy, headache, dysarthria, ophthalmoplegia, peripheral neuropathy, intellectual disability, psychiatric symptoms and movement disorders.	Preferred (foundation metadata concept)
A rare, mixed autoinflammatory and autoimmune syndrome disorder characterised by recurrent neutrophilic blistering skin lesions, arthralgia, ocular inflammation, inflammatory bowel disease, absence of autoantibodies, and mild immunodeficiency manifested by recurrent sinopulmonary infections and deficiency of circulating antibodies. Inflammatory phenotype is not provoked by cold temperatures.	Preferred (foundation metadata concept)
A rare, mixed neuronal-glial tumour characterised by slow growth and irregular arrangement of neoplastic ganglion cells (large, multipolar dysplastic neurons) within stroma composed of non-neoplastic glial elements. Most commonly it occurs in temporal lobe, but it can be located throughout central nervous system. Clinical manifestations vary depending on the location and include seizures, increased intracranial pressure, cerebellar signs and focal neurologic deficits. Memory disturbances, cranial nerve palsies and psychiatric symptoms have also been reported.	Preferred (foundation metadata concept)
A rare, mixed, functioning pituitary adenoma characterised by the cosecretion of growth hormone and prolactin, which manifests with signs and symptoms of both acromegaly and hyperprolactinaemia.	Preferred (foundation metadata concept)
A rare, mostly benign, neoplastic disease characterised by a primary tumour of the meninges, usually located intracranially (approximately 90%) but spinal meningiomas occur as well. Clinical symptoms relate to the location of the tumour and may include seizures, focal neurological deficits (sensory-motor or visual symptoms, cranial nerve dysfunction), vascular complications (occlusion of cerebral blood vessels, deep venous thrombosis, pulmonary embolism), chronically increased intracranial pressure neurocognitive impairment and/or loss of bladder/anus sphincter control.	Preferred (foundation metadata concept)
A rare, multiple congenital anomalies syndrome with cardiac involvement as a major feature characterised by QT prolongation, congenital heart defects, syndactyly, facial dysmorphism and neurodevelopmental features. There are three clinical phenotypes recognised, the classical types that present with a prolonged QT interval and either with (TS1) or without (TS2) cutaneous syndactyly of fingers and toes. The atypical form (ATS) causes multi-system health concerns but not necessarily with prolonged QT.	Preferred (foundation metadata concept)
A rare, multiple congenital anomalies syndrome with intellectual disability commonly characterised by facial dysmorphism (e.g. sagittal craniosynostosis, hypertelorism, strabismus, low-set dysplastic ears, retrognathia or micrognathia, mandibular ankyloses, cleft palate, aplasia uvulae), congenital heart defects (e.g. atrioventricular septal defect, anomalous venous return), genital anomalies (e.g. cryptorchidism, microphallus), as well as growth delay and intellectual disability. In some cases, tracheobronchial anomalies, large joint contractures, syndactyly, rib anomalies and hypoplastic kidneys are reported. Rarely, no cardiac anomaly may be reported.	Preferred (foundation metadata concept)
A rare, multiple congenital anomalies/dysmorphic syndrome characterised by craniofacial dysmorphism, including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia, and cleft palate, associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992.	Preferred (foundation metadata concept)
A rare, multiple congenital anomalies/dysmorphic syndrome characterised by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.	Preferred (foundation metadata concept)
A rare, multiple congenital anomalies/dysmorphic syndrome characterised by microcephaly, intellectual disability, seizures, and congenital heart defects (e.g. atrial/ventricular septal defect, hypoplastic aortic arch with persistent ductus arteriosus). Additional manifestations include mild hypothyroidism, skeletal abnormalities, micropenis, delayed psychomotor development, dysmorphic facial features (including epicanthus, depressed nasal bridge, prominent antitragus), and pulmonary vascular occlusive disease. There have been no further descriptions in the literature since 1989.	Preferred (foundation metadata concept)
A rare, multisystem disorder, characterised by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.	Preferred (foundation metadata concept)
A rare, multisystemic inherited metabolic disease characterised clinically, by a variable spectrum of severity, primarily comprised of psychomotor delay, myopathy and liver dysfunction. Most patients present in infancy, but the onset can be already in utero or in adult age. Hypermethioninaemia is frequent, but often absent in infancy. Creatine kinase is elevated in most patients.	Preferred (foundation metadata concept)
A rare, neurodegenerative disease characterised by progressive cataracts, hearing loss, cerebellar ataxia, paranoid psychosis and dementia. Neuropathological features are diffuse atrophy of all parts of the brain, chronic diffuse encephalopathy and the presence of extremely thin and almost completely demyelinated cranial nerves.	Preferred (foundation metadata concept)
A rare, neurodegenerative disease characterised by progressive cognitive impairment, spastic tetraparesis, and cerebellar ataxia resulting from amyloid deposits in the brain. Spasticity with increased deep tendon reflexes and tone are early symptoms, muscular rigidity evolves later. Progressive mental deterioration usually starts with apathy and impaired memory with progression to complete disorientation.	Preferred (foundation metadata concept)
A rare, neurodegenerative disease characterised by progressive dementia and ataxia, widespread cerebral amyloid angiopathy and parenchymal amyloid deposition. Two subtypes have been identified, ABri amyloidosis and ADan amyloidosis.	Preferred (foundation metadata concept)
A rare, neurodegenerative disorder characterised by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration.	Preferred (foundation metadata concept)
A rare, non-syndromic uterovaginal malformation characterised by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated.	Preferred (foundation metadata concept)
A rare, non-syndromic, congenital oesophageal malformation characterised by a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lying within or adjacent to the true oesophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in childhood.	Preferred (foundation metadata concept)
A rare, non-syndromic, congenital, urogenital tract malformation affecting males and characterised by penoscrotal, scrotal or perineal displacement of the urethral meatus, and commonly associated with curvation of the penis. The scrotum might appear bifid in severe cases, and the boy can also have a micropenis.	Preferred (foundation metadata concept)
A rare, non-syndromic, uterovaginal malformation characterised by variable degrees of cervical aplasia, ranging from complete agenesis to the presence of a cervix with a cervical canal that contains a blind end. Patients typically present primary amenorrhoea, cyclical abdominal or pelvic pain, dyspareunia and/or reproductive problems.	Preferred (foundation metadata concept)
A rare, nonprogressive, neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leucoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The aetiology is unknown but an autosomal recessive mode of inheritance has been suggested.	Preferred (foundation metadata concept)
A rare, partial autosomal trisomy characterised by a variable phenotype that includes hypotonia, motor delay, mild to severe intellectual disability, seizures, variable cerebral anomalies, finger/toe syndactyly, fifth finger clinodactyly, strabismus, short neck and dysmorphic facial features.	Preferred (foundation metadata concept)
A rare, patterned dystrophy of the retinal pigment epithelium characterised by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age.	Preferred (foundation metadata concept)
A rare, patterned dystrophy of the retinal pigment epithelium characterised by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age.	Preferred (foundation metadata concept)
A rare, patterned dystrophy of the retinal pigment epithelium, of progressive course, characterised by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. This disorder is sometimes associated with scleral staphyloma, choroidal neovascularisation, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris.	Preferred (foundation metadata concept)
A rare, potentially fatal, epileptic encephalopathy characterised by explosive-onset of recurrent multifocal and bilateral tonic-clonic seizures following an unspecific febrile illness. The syndrome develops without a clear acute structural, toxic or metabolic cause, in a patient without previous epilepsy. FIRES is a subgroup of new-onset refractory status epilepticus (NORSE) and requires a preceding febrile infection as a mandatory feature.	Preferred (foundation metadata concept)
A rare, potentially fatal, genetic, visceral malformation syndrome characterised by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinaemia, acholia and infections. Cardiac anomalies may also be associated.	Preferred (foundation metadata concept)
A rare, primary bone dysplasia characterised by intrauterine growth retardation, pre- and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmental delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification.	Preferred (foundation metadata concept)
A rare, primary bone dysplasia characterised by mild short stature, rhizomelic shortening of the arms and legs, bowing of long bones with widened and irregular metaphyses, thoracolumbar kyphosis, and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic haematological feature of this disease.	Preferred (foundation metadata concept)
A rare, primary bone dysplasia characterised by proportional short stature, early cessation of bone growth, accelerated skeletal maturation, variable presence of early-onset osteoarthritis and osteochondritis dissecans, and normal endocrine evaluation. The variable dysmorphic features include mild to relative macrocephaly, frontal bossing, midfacial hypoplasia, flat nasal bridge, brachydactyly, broad thumbs, and lordosis.	Preferred (foundation metadata concept)
A rare, primary combined T and B cell immunodeficiency characterised by early-onset of recurrent, invasive viral and bacterial infections associated with T and B cell lymphopenia, functional defects in T and B cells, poor antibody response and thrombocytopenia. Depending on the type of infectious agent, variable clinical manifestations commonly include recurrent pneumonia, bronchiolitis, otitis media, meningoencephalitis, colitis, and diarrhoea, leading to fatal multiorgan failure in severe cases.	Preferred (foundation metadata concept)
A rare, primary immunodeficiency characterised by variable combination of enteropathy, hypogammaglobulinaemia, recurrent respiratory infections, granulomatous lymphocytic interstitial lung disease, lymphocytic infiltration of non-lymphoid organs (intestine, lung, brain, bone marrow, kidney), autoimmune thrombocytopenia or neutropenia, autoimmune haemolytic anaemia and lymphadenopathy.	Preferred (foundation metadata concept)
A rare, pure or complex form of hereditary spastic paraplegia characterised by early adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, urinary urgency and/or incontinence, muscle weakness, decreased vibration sense and mild muscular atrophy in lower extremities. It may be associated with complicating signs, such as sensory neuropathy, ataxia (i.e. mild dysmetria, uncoordinated eye movement) and mild dysphagia.	Preferred (foundation metadata concept)
A rare, pure or complex form of hereditary spastic paraplegia characterised by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.	Preferred (foundation metadata concept)
A rare, pure or complex form of hereditary spastic paraplegia characterised by progressive spastic paraplegia with pyramidal signs in the upper and lower limbs, and decreased vibration sense.	Preferred (foundation metadata concept)
A rare, pure or complex form of hereditary spastic paraplegia typically characterised by presentation in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.	Preferred (foundation metadata concept)
A rare, pure or complex form of hereditary spastic paraplegia usually characterised by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia, parkinsonism, and dystonia as well as thin corpus callosum and white matter lesions (seen on brain and spine magnetic resonance imaging), has also been reported.	Preferred (foundation metadata concept)
A rare, pure or complex form of hereditary spastic paraplegia, with variable phenotype, typically characterised by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, scoliosis, sphincter disturbances and/or urinary bladder hyperactivity. Rare additional associated manifestations may include mild intellectual disability, axonal motor neuropathy, and seizures.	Preferred (foundation metadata concept)
A rare, rhizo-mesomelic dysplasia characterised by distinct facial features (flat midface, flat small nose, anteverted nares, low set ears, protuberant eyes, and small mouth with long upper lip), markedly short limbs with relatively normal hands and feet, short ribs with broad metaphyses and small bell-shaped thorax with protuberant abdomen. Vertebral bodies are flat, creating a distinctive pinched appearance in lateral radiographic views. Cleft palate, micrognathia, bifid tongue and brachyclinodactyly with some soft tissue syndactyly have been reported in few patients. It is mostly a neonatally lethal condition. Affected individuals who survive the neonatal period present with severe global developmental delay, severe skeletal dysplasia, high myopia and mild to moderate hearing loss.	Preferred (foundation metadata concept)
A rare, secondary glomerular disease characterised by proteinuria, dysproteinaemias, nephrotic syndrome, and nodular glomerulopathy leading to renal failure, with or without extra-renal manifestations. The renal biopsy shows typical deposits of monoclonal immunoglobulins that do not show a fibrillar organisation and are negative for Congo red staining. Associated signs and symptoms depend on the involvement of other organs, liver, heart, nerve fibres, gastrointestinal tract, or skin.	Preferred (foundation metadata concept)
A rare, secondary hemophagocytic lymphohistiocytosis characterised by occurring as either initial presentation of a malignant disease or at any stage during chemotherapy. The common associated malignancies are leukaemias, B-cell, T-cell or NK-cell lymphomas, and Hodgkin lymphoma. Typical clinical manifestation includes fever, hepatosplenomegaly and cytopenias, combined with specific laboratory findings.	Preferred (foundation metadata concept)
A rare, secondary, neonatal autoimmune disease characterised by onset of haemolytic anaemia in the neonatal period associated with a positive direct antiglobulin test. Hepatosplenomegaly may be associated.	Preferred (foundation metadata concept)
A rare, severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterised by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy.	Preferred (foundation metadata concept)
A rare, severe disorder of urea cycle metabolism typically characterised by either a neonatal onset of severe hyperammonaemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonaemia.	Preferred (foundation metadata concept)
A rare, severe early-onset neurodegenerative encephalopathy characterised mainly by developmental delay (DD) / developmental regression (DR), epilepsy, cortical atrophy, secondary hypomyelination and thin corpus callosum. Additional features include secondary microcephaly, hypotonia, spasticity, optic atrophy and skeletal anomalies.	Preferred (foundation metadata concept)
A rare, severe form of mevalonate kinase deficiency (MKD) characterised by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.	Preferred (foundation metadata concept)
A rare, severe, circulatory system disease characterised by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994.	Preferred (foundation metadata concept)
A rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to impaired synthesis of dopamine, noradrenaline, adrenaline and serotonin. Clinical manifestations are typically characterised by early-onset muscular hypotonia, movement disorders (oculogyric crisis, dystonia), developmental delay, ptosis and non-motor symptoms (sleep disturbance, irritability, excessive sweating, and nasal congestion).	Preferred (foundation metadata concept)
A rare, severe, genetic, intestinal disease characterised by congenital absence of heparan sulfate from small intestine epithelium manifesting with secretory diarrhoea and massive enteric protein loss. Patients present intolerance to enteral feeds during the first few weeks to months of life. Apart from absence of heparan sulfate from the basolateral surface of small intestine enterocytes, small bowel biopsy is otherwise normal.	Preferred (foundation metadata concept)
A rare, severe, genetic, neurometabolic disease characterised by infantile-onset of progressive neurodevelopmental regression, optic atrophy with nystagmus and diffuse white matter disease. Affected individuals usually have central hypotonia that progresses to limb spasticity and hyperreflexia, eventually resulting in a vegetative state. Recurrent chest infections are frequently associated and seizures (usually generalised tonic-clonic) may occasionally be observed. Brain magnetic resonance imaging shows diffuse bilateral symmetric abnormalities in the cerebral periventricular white matter, with variable lesions in other areas but sparing the basal ganglia.	Preferred (foundation metadata concept)
A rare, severe, multiple congenital anomalies syndrome characterised by severe mandibular hypoplasia, upper limb phocomelia with oligodactyly, absent fibula, and a number of additional skeletal (hypoplastic scapula and ischii, 11 ribs, clubfeet), facial (hypertelorism, hypoplastic supraorbital ridges, wide nasal bridge, microtia with low-set ears) and variable internal organ abnormalities (including arhinencephaly, hypolobulated lungs, and congenital cardiac defects), which usually lead to perinatal death. Surviving patients show features similar to Nagel syndrome.	Preferred (foundation metadata concept)
A rare, severe, primary bone dysplasia characterised by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies.	Preferred (foundation metadata concept)
A rare, slowly progressive form of systemic mastocytosis (SM) characterised by gradual accumulation of neoplastic mast cells in the visceral organs. Patients typically present with splenomegaly, hypercellular marrow and, in most cases, urticaria pigmentosa-like skin lesions.	Preferred (foundation metadata concept)
A rare, slowly progressive genetic peripheral neuropathy characterised by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.	Preferred (foundation metadata concept)
A rare, syndromic congenital ichthyosis characterised by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy.	Preferred (foundation metadata concept)
A rare, syndromic diabetes mellitus characterised by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).	Preferred (foundation metadata concept)
A rare, syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia.	Preferred (foundation metadata concept)
A rare, syndromic intellectual disability characterised by developmental delay, speech apraxia, autism with stereotypies, intellectual disability and unspecific dysmorphic facial features. Seizures or isolated EEG abnormalities may also be associated.	Preferred (foundation metadata concept)
A rare, syndromic intellectual disability characterised by global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioural issues, stereotypic behaviour, febrile seizures and epilepsy, abnormal gait, vision defects, and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present.	Preferred (foundation metadata concept)
A rare, syndromic intellectual disability characterised by hypotonia, developmental delay, absent or severly delayed speech development, intellectual disability, obstructive sleep apnoea, mild dysmorphic facial features and behavioural abnormalities. Epilepsy, ataxia and nystagmus have also been reported.	Preferred (foundation metadata concept)
A rare, syndromic intellectual disability characterised by hypotonia, global developmental delay, limited or absent speech, intellectual disability, macrocephaly, mild dysmorphic features, seizures and autism spectrum disorder. Associated ophthalmologic, heart, skeletal and central nervous system anomalies have been reported.	Preferred (foundation metadata concept)
A rare, syndromic intellectual disability characterised by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993.	Preferred (foundation metadata concept)
A rare, syndromic intellectual disability characterised by severe intellectual deficit, brachycephaly, plagiocephaly, and prominent forehead in male patients. Females may display moderate intellectual deficit without craniofacial dysmorphism. There have been no further descriptions in the literature since 1992.	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)