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 autosomal dominant distal hereditary motor neuropathy disease characterised by muscle weakness and wasting predominantly affecting the hands, in particular the thenar and first dorsal interosseous muscles, and/or marked foot deformity and gait disturbance. Sensation is normal, although reduced response to vibration has been described. The disease is slowly progressive with an age of onset within the first few decades of life.	Preferred (foundation metadata concept)
A rare autosomal dominant ectodermal dysplasia syndrome characterised by premolar aplasia, hyperhidrosis, and premature greying of the hair. Additional features may include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics.	Preferred (foundation metadata concept)
A rare autosomal dominant form of familial hyperinsulinism characterised clinically by postprandial hypoglycaemia, fasting hyperinsulinaemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.	Preferred (foundation metadata concept)
A rare autosomal dominant form of heart-hand syndrome that is characterised by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.	Preferred (foundation metadata concept)
A rare autosomal dominant heart-hand syndrome that is characterised by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis. There have been no new reports since 1981.	Preferred (foundation metadata concept)
A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterised by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and hyporeflexia beginning in the lower limbs. Progressive gait disturbance may lead to loss of independent ambulation in some patients at a higher age.	Preferred (foundation metadata concept)
A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterised by childhood onset of slowly progressive distal muscle weakness and atrophy primarily affecting the lower limbs, associated with sensory impairment and ataxia presenting with an unsteady, broad-based gait and frequent falls. Additional signs include decreased deep tendon reflexes and hand tremor.	Preferred (foundation metadata concept)
A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterised by early onset of generalised hypotonia and weakness, or later onset of distal lower limb muscle weakness and atrophy, cramps, and sensory impairment. Weakness and atrophy progress in an asymmetric fashion to involve also the proximal and upper limbs in the course of the disease. Additional features are pyramidal signs like increased muscle tone and extensor plantar reflexes, as well as learning difficulties.	Preferred (foundation metadata concept)
A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterised by predominantly distal weakness and muscle atrophy, decreased or absent tendon reflexes, and reduced vibratory sensation in the lower and upper extremities. Pes cavus develops in many patients. Additional symptoms like ataxia, tremor, or swallowing difficulties have been reported. Patients usually remain ambulatory even late in the disease. Age of onset ranges from childhood to adulthood, with earlier onset tending to be associated with a more severe disease phenotype.	Preferred (foundation metadata concept)
A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterised by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibres, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs.	Preferred (foundation metadata concept)
A rare autosomal dominant limb-girdle muscular dystrophy characterised by adult onset of proximal muscle weakness, pain, and wasting predominantly affecting the proximal leg, lumbar paraspinal, and medial gastrocnemius muscles. Upper limb involvement may also be observed in some cases. Serum creatine kinase is often, but not always, elevated, and muscle biopsy shows non-specific myopathic changes. The severity of the disease is variable, although most patients remain ambulatory.	Preferred (foundation metadata concept)
A rare autosomal dominant malformation syndrome characterised by hypertelorism, omphalocoele, cleft lip, ear pits, uterine malformation (bicornuate uterus), and more variably by diaphragmatic hernia and congenital heart defects.	Preferred (foundation metadata concept)
A rare autosomal dominant neurological disorder characterised by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.	Preferred (foundation metadata concept)
A rare autosomal dominant pure hereditary spastic paraplegia characterised by early childhood onset of slowly progressive crural spastic paraparesis presenting with spastic gait, mild stiffness at rest, hyperreflexia (in lower limbs), extensor plantar responses and, in some, mild postural tremor, pes cavus, sphincter disturbances and sensory loss at ankles.	Preferred (foundation metadata concept)
A rare autosomal dominant tubulointerstitial kidney (ADTKD) disease due to MUC1 mutations characterised clinically by a bland urinalysis (absence of blood or protein in the urine), and chronic kidney disease leading to end-stage kidney disease (ESKD) between 20 and 80 years.	Preferred (foundation metadata concept)
A rare autosomal dominant tubulointerstitial kidney disease (ADTKD) of childhood due to REN mutations and characterised by early onset hypoproliferative anaemia, hyperuricaemia, gout, and slowly progressive tubulointerstitial kidney disease.	Preferred (foundation metadata concept)
A rare autosomal ichthyosis syndrome with prominent neurologic signs characterised by the association of congenital ichthyosis with global developmental delay, intellectual disability, infantile-onset seizures, and spastic tetraplegia. Brain imaging may show delayed myelination and cerebral atrophy. Marked intrafamilial variability has been reported.	Preferred (foundation metadata concept)
A rare autosomal ichthyosis syndrome with prominent neurologic signs characterised by the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy. There have been no further descriptions in the literature since 1995.	Preferred (foundation metadata concept)
A rare autosomal monosomy characterised by a variable phenotype with moderate to severe intellectual disability, behavioural problems, short stature, microcephaly, dysplastic nails, sparse hair, cleft palate and dysmorphic craniofacial features.	Preferred (foundation metadata concept)
A rare autosomal recessive acromesomelic dysplasia characterised by severe dwarfism (adult height <120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type.	Preferred (foundation metadata concept)
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterised by adolescent or adult onset of slowly progressive muscle weakness and atrophy of the distal lower limbs progressing to involve also the upper limbs and proximal muscles, and sensory impairment. Patients present gait disturbances and loss of reflexes, at later stages loss of ambulation, dysarthria, dysphagia, facial weakness, and impairment of respiratory muscles requiring assisted ventilation.	Preferred (foundation metadata concept)
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterised by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and decreased or absent deep tendon reflexes predominantly in the lower extremities. Patients present gait disturbances but remain ambulatory. Mild involvement of the upper limbs may be seen.	Preferred (foundation metadata concept)
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterised by childhood to adult onset of slowly progressive, sometimes asymmetric distal muscle weakness and atrophy, as well as sensory impairment, predominantly of the lower limbs. Additional common features include pes cavus, kyphoscoliosis, ankle contractures, tremor, or urogenital dysfunction. Fasciculations and proximal involvement may be seen in some cases. Patients usually remain ambulatory.	Preferred (foundation metadata concept)
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterised by early-onset axial hypotonia, generalised muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes.	Preferred (foundation metadata concept)
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterised by infantile onset of recurrent episodes of acute liver failure (resulting in chronic liver fibrosis and hepatosplenomegaly), delayed motor development, cerebellar dysfunction presenting as gait disturbances and intention tremor, neurogenic stuttering, and motor and sensory neuropathy with muscle weakness especially in the lower legs, and numbness. Mild intellectual disability was reported in some patients. MRI of the brain shows non-progressive atrophy of the cerebellar vermis and thinning of the optic nerve.	Preferred (foundation metadata concept)
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterised by motor-predominant axonal polyneuropathy due to a defect in copper metabolism. Patients become symptomatic in infancy or childhood with subtle motor delay or regression, manifesting with progressive weakness, muscle wasting, and absent reflexes in the lower and upper extremities. In addition, vibratory sensation is mildly diminished. Involvement of the face with weakness and fasciculation of facial muscles has also been described.	Preferred (foundation metadata concept)
A rare autosomal recessive cerebellar ataxia (ARCA), characterised by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.	Preferred (foundation metadata concept)
A rare autosomal recessive cerebellar ataxia characterised by early onset of non- or slowly progressive cerebellar signs and symptoms including truncal and gait ataxia, dysarthria, dysmetria, dysdiadochokinesis, tremor, and nystagmus. Delayed psychomotor development and intellectual disability are variable. Additional reported features are spasticity, hypotonia, cataracts, and sensorineural hearing loss, among others. Brain imaging shows cerebellar atrophy.	Preferred (foundation metadata concept)
A rare autosomal recessive cerebellar ataxia characterised by early onset of slowly progressive cerebellar atrophy, clinically manifesting with extremity and truncal ataxia, global developmental delay, intellectual impairment, nystagmus, dysarthria, intention tremor, and pyramidal signs, among others.	Preferred (foundation metadata concept)
A rare autosomal recessive cerebellar ataxia characterised by onset of dystonia and other extrapyramidal signs, ataxia, oculomotor apraxia, and progressive sensorimotor polyneuropathy in the first decade of life. Patients present distal muscle weakness and atrophy, decreased vibratory sensation, and areflexia, and usually become wheelchair-bound by the third decade. Variable cognitive impairment may also be seen.	Preferred (foundation metadata concept)
A rare autosomal recessive cerebellar ataxia, characterised by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminaemia.	Preferred (foundation metadata concept)
A rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterised by early-childhood onset of cerebellar ataxia associated with generalised tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.	Preferred (foundation metadata concept)
A rare autosomal recessive complex spastic paraplegia characterised by mostly adult-onset progressive spasticity and weakness predominantly affecting the lower limbs, axonal motor and sensory neuropathy, and cerebellar symptoms like ataxia, dysarthria, and oculomotor abnormalities. Variable degrees of cognitive impairment may also be present. Subtle extrapyramidal involvement and supranuclear gaze palsy were reported in some cases. Features on brain imaging include cerebral and cerebellar atrophy and sometimes abnormalities of the corpus callosum or basal ganglia.	Preferred (foundation metadata concept)
A rare autosomal recessive complex spastic paraplegia characterised by upper motor neuron involvement and peripheral neuropathy with an onset between childhood and early adulthood. Patients present with progressive spasticity, hyperreflexia, and distal upper and lower muscle wasting. Reduced cognitive functioning and cerebellar ataxia have also been reported. MR imaging may reveal cerebellar and/or spinal cord atrophy.	Preferred (foundation metadata concept)
A rare autosomal recessive 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 autosomal recessive 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 autosomal recessive 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 autosomal recessive disorder characterised by very early-onset and severe hypertension, low renin levels, low aldosterone, metabolic alkalosis, hypernatraemia, and hypokalaemia.	Preferred (foundation metadata concept)
A rare autosomal recessive distal myopathy characterised by slowly progressive diffuse muscle weakness in childhood, followed by predominantly distal muscle weakness in adolescence, and quadriceps muscle weakness in the fourth decade. Facial muscle weakness is commonly reported. Muscle biopsy shows fibre size variation, increased internal nuclei, fibre splitting, rimmed vacuoles, and focal endomysial fibrosis.	Preferred (foundation metadata concept)
A rare autosomal recessive glycogen storage disease characterised by severe cardiomyopathy and cardiac dilatation potentially progressing to heart failure requiring transplantation. Cardiomyocytes show large inclusions of storage material consistent with polyglucosan. Clinical evidence of skeletal muscle involvement is usually absent.	Preferred (foundation metadata concept)
A rare autosomal recessive hereditary sensory and autonomic neuropathy characterised by congenital impaired sensation of acute or inflammatory pain in combination with an inability to identify noxious heat or cold, leading to numerous painless mutilating lesions and injuries. Further manifestations are absence of corneal reflexes resulting in corneal scarring, reduced sweating and tearing, and recurrent skin infections. Large-fibre sensory modalities such as light touch, vibration, and proprioception are normal.	Preferred (foundation metadata concept)
A rare autosomal recessive inborn error of metabolism characterised by increased urinary excretion of dicarboxylic amino acids, glutamate and aspartate, that can be associated with kidney stones and neuropsychiatric manifestations.	Preferred (foundation metadata concept)
A rare autosomal recessive limb-girdle muscular dystrophy characterised by adult onset of progressive muscle weakness and atrophy in the proximal upper and lower limbs, leading to scapular winging and loss of independent ambulation. Respiratory function may become impaired in the course of the disease. Fatty degeneration of internal regions of thigh muscles sparing external areas has been reported, as well as a reduction of alpha-dystroglycan in muscle biopsies.	Preferred (foundation metadata concept)
A rare autosomal recessive limb-girdle muscular dystrophy characterised by childhood to adult onset of slowly progressive limb girdle muscular weakness, often accompanied by calf hypertrophy, and moderately elevated creatine kinase levels. Patients remain ambulatory but may variably present mild intellectual disability, seizures, migraine, or cardiopulmonary involvement. Occurrence of dilated cardiomyopathy has been reported. Brain MRI typically shows hyperintensity in T2-weighted sequences. Muscle biopsy commonly reveals dystrophic features.	Preferred (foundation metadata concept)
A rare autosomal recessive limb-girdle muscular dystrophy characterised by infantile to adolescent onset of a milder form of limb-girdle muscular dystrophy with or without intellectual disability. Patients present variable proximal limb muscular weakness with calf hypertrophy and elevated serum creatine kinase.	Preferred (foundation metadata concept)
A rare autosomal recessive microcephalic primordial dwarfism characterised by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe.	Preferred (foundation metadata concept)
A rare autosomal recessive primary immunodeficiency characterised by Epstein-Barr virus (EBV)-triggered lymphoproliferative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma and EBV-driven haemophagocytic lymphohistiocytosis (HLH). Aplastic anaemia and inflammatory disorders such as uveitis and oral ulcers are also observed.	Preferred (foundation metadata concept)
A rare autosomal recessive primary immunodeficiency characterised by absence of HLA class II molecules on the surface of immune cells, leading to severely impaired cellular and humoral immune response to foreign antigens, severe CD4+ T-cell lymphopenia, and hypogammaglobulinaemia. The disease clinically manifests with early onset of severe and recurrent infections mainly of the respiratory and gastrointestinal tract, protracted diarrhoea with failure to thrive, and autoimmune disease, and is frequently fatal in childhood.	Preferred (foundation metadata concept)
A rare autosomal recessive primary immunodeficiency characterised by infancy onset of severe inflammatory bowel disease with life-threatening diarrhoea and failure to thrive, oral aphthous ulcers, and recurrent severe upper and lower respiratory tract infections with finger clubbing. Laboratory examination reveals increased IgE and decreased IgG levels, as well as reduced numbers of circulating CD19+ B-cells including IgM+ naive and class-switched IgG memory B-cells, with a concomitant increase in transitional B-cells, while T-cell numbers and function are normal.	Preferred (foundation metadata concept)
A rare autosomal recessive primary immunodeficiency characterised by partial T lymphopenia (in particular cytotoxic CD8+ cells) and decreased expression of the T cell receptor (TCR)/CD3 complex with impaired proliferative response to TCR-dependent stimuli, while the mature memory T cell pool is comparatively well preserved, and B cells, natural killer cells, and immunoglobulins are typically normal. The clinical phenotype is highly heterogeneous, ranging from asymptomatic to infancy-onset of severe recurrent infections, as well as occurrence of autoimmune disease or enteropathy.	Preferred (foundation metadata concept)
A rare autosomal recessive primary immunodeficiency characterised by severe reduction in the cell surface expression of HLA class I molecules, typically resulting in childhood-onset of chronic bacterial infections of the respiratory tract evolving to widespread bronchiectasis and respiratory insufficiency. Sterile necrotising granulomatous skin lesions mainly involving the extremities and the mid-face may be observed in some patients. Severe viral infections do not occur as part of the condition. Atypical variants without respiratory or cutaneous manifestations, as well as asymptomatic individuals have been reported.	Preferred (foundation metadata concept)
A rare autosomal recessive primary immunodeficiency characterised by susceptibility to Epstein-Barr virus (EBV)-associated lymphoproliferative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma, lymphoid granulomatosis, haemophagocytic lymphohistiocytosis, and smooth muscle tumour. Patients present persistent symptoms of infectious mononucleosis including recurrent febrile episodes, lymphadenopathies, and hepatosplenomegaly, accompanied by high EBV viral load in the blood. Additional manifestations are autoimmune diseases like haemolytic anaemia or renal disease.	Preferred (foundation metadata concept)
A rare autosomal recessive primary immunodeficiency characterised by susceptibility to Epstein-Barr virus (EBV)-related disorders (B-cell lymphoproliferative disorders including Hodgkin lymphoma) as well as dysgammaglobulinaemia and recurrent infections. Patients can present with recurrent fever, lymphadenopathy, hepatosplenomegaly, Behçet-like stomatitis, pharyngitis, tonsillitis, adenitis, and viral encephalitis.	Preferred (foundation metadata concept)
A rare autosomal recessive syndromic cerebellar ataxia characterised by the association of early-onset cerebellar ataxia with hearing loss and blindness. Patients may also present demyelinating peripheral motor neuropathy. Cerebral MRI shows alterations of the cerebellar white matter without cerebellar atrophy.	Preferred (foundation metadata concept)
A rare autosomal recessive, isolated diffuse palmoplantar keratoderma characterised by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda.	Preferred (foundation metadata concept)
A rare autosomal trisomy, characterised by reduced fetal movements and intrauterine growth retardation, low birth weight, and multiple congenital anomalies. The latter include, amongst others, facial dysmorphism (like hypertelorism, cleft lip/palate, micrognathia, low hairline, and small, low-set, and posteriorly rotated ears), head circumference below average, deformities of the hands (camptodactyly) and feet, marked hypertrichosis, and anomalies of the brain, heart, and lungs. Lethality appears to depend on the degree of mosaicism.	Preferred (foundation metadata concept)
A rare axonal hereditary motor and sensory neuropathy characterised by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.	Preferred (foundation metadata concept)
A rare balance disorder with characteristic of auditory and/or vestibular symptoms. This condition is caused by an opening (dehiscence) in the bone that overlays the superior semicircular canal within the inner ear.	Preferred (foundation metadata concept)
A rare benign eye tumour characterised by the presence of glial cells, vascular tissue, and sheets of pigment epithelial cells lacking the distribution and organisation of the normal retina and retinal pigment epithelium. The lesion is most commonly found unilaterally as a slightly elevated mass in a peripapillary location but can also occur in the macula or the retinal periphery. It is sometimes associated with neurofibromatosis type 1 or 2, naevoid basal cell carcinoma syndrome, or branchio-oculo-facial syndrome. Patients may be asymptomatic or present with progressive loss of vision.	Preferred (foundation metadata concept)
A rare benign liver tumour characterised by a prominent inflammatory infiltrate and often mimicking a malignant liver neoplasm. The tumour is frequently solitary with a predilection for the right lobe; however, multiple lesions are possible. There are two clinicopathological subtypes: fibrohistiocytic inflammatory pseudotumour of the liver and lymphoplasmacytic inflammatory pseudotumour of the liver. Patients present with non-specific clinical symptoms such as abdominal pain or discomfort, fever, and weight loss. The condition may be associated with other chronic inflammatory or autoimmune diseases.	Preferred (foundation metadata concept)
A rare benign ovarian stromal tumour characterised by a stromal neoplasm with variable microcystic morphology, low mitotic activity, and diffuse nuclear beta-catenin and cyclin D1 immunoreactivity, while inhibin and calretinin are not expressed. Patients most commonly present with symptoms of a unilateral pelvic mass. Hormonal manifestations are usually absent. The tumour may be associated with familial adenomatous polyposis.	Preferred (foundation metadata concept)
A rare benign ovarian tumour characterised by a benign pelvic mass associated with right-sided pleural effusion, but without ascites. The pleural effusion resolves after resection of the tumour.	Preferred (foundation metadata concept)
A rare benign pseudocyst found on the floor of the mouth that is associated with mucus extravasation that can occur spontaneously or as the result of trauma or obstruction to the salivary gland excretory duct and spillage of mucin into the surrounding soft tissues.	Preferred (foundation metadata concept)
A rare benign pseudocyst that extends into the submandibular space and is associated with mucus extravasation that can occur spontaneously or as the result of trauma or obstruction to the salivary gland excretory duct and spillage of mucin into the surrounding soft tissues.	Preferred (foundation metadata concept)
A rare biliary tract disease characterised by loss of interlobular bile ducts resulting in chronic cholestasis, without any known cause. Loss of less than 50% of interlobular bile ducts is associated with a mild disease course, while loss of the majority of ducts results in a severe form, potentially leading to cirrhosis and liver failure. Patients typically present as young or middle-aged adults with episodic jaundice, pruritus, and elevated liver enzymes.	Preferred (foundation metadata concept)
A rare biliary tract disease characterised by stone formation within the intrahepatic bile ducts without any known cause, leading to bile stasis and repeated cholangitic episodes. The condition is rare in the Western world but frequent in eastern Asia. Patients usually present before the age of forty with right upper quadrant pain, jaundice, and/or fever. Stones are typically calcium bilirubinate (pigment) stones, and bacteria are present in the bile in almost all cases. Complications are biliary strictures, liver abscess, liver fibrosis, and secondary biliary cirrhosis. Association with cholangiocarcinoma has also been reported.	Preferred (foundation metadata concept)
A rare bleeding disorder characterised by defects in von Willebrand factor, similar to those seen in hereditary von Willebrand disease (VWD), but which are caused by an underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies.	Preferred (foundation metadata concept)
A rare bone disease and a form of microcephalic primordial dwarfism characterised by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.	Preferred (foundation metadata concept)
A rare bone disease characterised by avascular necrosis of the navicular bone in children. Patients present with sudden unexplained foot pain, inability to bear weight, and limping. Radiographic features include flattening, fragmentation, and patchy sclerosis of the navicular bone. Soft tissue swelling may be associated. The condition is most commonly unilateral and self-limiting. Boys are more often affected than girls.	Preferred (foundation metadata concept)
A rare bone disease characterised by bone resorption affecting the distal phalanx, most commonly the terminal tuft, in the absence of a known cause. Patients present with shortening of the affected fingers or toes, associated with nail abnormalities (dystrophic or hypertrophic nails) and skin changes (such as ulceration or pigment anomalies).	Preferred (foundation metadata concept)
A rare bone disease characterised by secondary hyperparathyroidism in patients with chronic renal failure, caused by improper treatment in the early stages of the disease with retention of phosphorus, vitamin D deficiency, and disturbed calcium-phosphorus metabolism, which result in increased parathyroid hormone levels. Patients present with short stature, severe changes of the skull and jaws as well as other skeletal deformities, dental anomalies, brown tumours in the mouth, hearing loss, and neuropsychiatric disorders.	Preferred (foundation metadata concept)
A rare bone disease characterised by spontaneous adult-onset tarsal navicular osteonecrosis. Patients present with chronic mid- and hindfoot pain, swelling and tenderness over the dorsomedial aspect of the midfoot, flattening of the medial longitudinal arch, and pes planovarus. Radiographic findings include comma-shaped deformity due to collapse of the lateral part of the navicular bone and medial or dorsal protrusion of a portion or the entire bone. The condition may be bilateral or asymmetric and associated with pathological fractures.	Preferred (foundation metadata concept)
A rare branchial arches and limb primordia development disorder characterised by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (including facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.	Preferred (foundation metadata concept)
A rare breast malformation disorder characterised by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperaemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal.	Preferred (foundation metadata concept)
A rare carcinoma of the liver characterised by one to several or many nodules occurring anywhere within the liver, composed of neoplastic epithelial cells with hepatocellular differentiation. The vast majority of tumours are associated with chronic liver disease (such as hepatitis B or C, or steatohepatitis) or exposure to a variety of exogenous agents. Patients may present with signs and symptoms related to the tumour, as well as to the underlying condition. Common manifestations include right upper quadrant abdominal pain, weight loss, hepatosplenomegaly, jaundice, and ascites. Symptomatic tumours generally have poor prognosis.	Preferred (foundation metadata concept)
A rare cardiac condition characterised by acute severe right ventricular failure with subsequent haemodynamic instability following a cardiac surgical procedure. Predisposing factors include suboptimal myocardial protection during surgery, long cardiopulmonary bypass time, right ventricular myocardial ischaemia or infarction, atrial arrhythmias, reperfusion lung injury with secondary pulmonary hypertension, post-operative pulmonary micro- or macro-embolism, and pre-existing pulmonary vascular disease, among others.	Preferred (foundation metadata concept)
A rare cardiovascular disorder characterized by defective intracellular lipolysis of long-chain triglycerides (LCTG), resulting in heart failure and diffuse atherosclerosis.	Preferred (foundation metadata concept)
A rare central nervous system embryonal tumour characterised by embryonal cells arranged in multilayered rosettes and displaying one of three morphological patterns: embryonal tumour with abundant neuropil and true rosettes, ependymoblastoma, or medulloepithelioma. The tumours typically have a C19MC alteration or (rarely) a DICER1 mutation and correspond to WHO grade IV. They are mostly localised intracranially, rarely in the spinal cord, and commonly cause signs and symptoms of elevated intracranial pressure, sometimes seizures and focal neurological signs. Most cases occur in children during the first two years of life.	Preferred (foundation metadata concept)
A rare central nervous system malformation characterised by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.	Preferred (foundation metadata concept)
A rare centronuclear myopathy characterised by a variable severity of muscle weakness which is typically asymmetric with a limb-girdle pattern. Severity can range from skeletal asymmetry to loss of ambulation. Other manifestations may include respiratory muscle weakness, urinary incontinence, bulbar signs (facial weakness, limitation of extra-ocular movements, ophthalmoparesis, ptosis and dysarthria), or skeletal involvement (kyphoscoliosis, scoliosis, joint hyperlaxity, joint contractures of the lower extremities, foot deformities and hand and/or facial contractures). Many female carriers remain asymptomatic.	Preferred (foundation metadata concept)
A rare cerebellar ataxia characterised by cerebellar inflammation caused by viral or bacterial infection-triggered, immune-mediated mechanisms. It mainly affects young children following an episode of usually viral infection (notably varicella), but sometimes also adults, mostly upon Epstein-Barr virus or mycoplasma infection. Affected individuals mainly present with acute-onset afebrile gait ataxia, meningeal signs, high intracranial pressure with or without extracerebellar manifestations (such as clouding of consciousness, seizures and altered mental status) or extracerebellar focal signs. Mild behavioural changes can also be present. Pleocytosis in cerebrospinal fluid is reported in the majority of the patients.	Preferred (foundation metadata concept)
A rare cerebrovascular disorder characterised by severe headaches with or without focal neurological deficits or seizures, and a reversible segmental and multifocal vasoconstriction of cerebral arteries. It may occur spontaneously or be provoked by various precipitating factors, the most common being postpartum and exposure to various vasoactive substances such as illicit drugs and selective serotonin-reuptake inhibitors. The major complication is ischaemic or haemorrhagic stroke.	Preferred (foundation metadata concept)
A rare childhood-onset epilepsy syndrome associated with infection and characterised by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy.	Preferred (foundation metadata concept)
A rare chromosomal anomaly characterised by a combination of paternal uniparental and biparental cell lineages, leading to variable clinical presentation that predominantly includes features of Beckwith-Wiedemann syndrome and increased risk of various tumours. In addition, features of Angelman syndrome and transient neonatal diabetes might be expected.	Preferred (foundation metadata concept)
A rare chromosomal anomaly characterised by an extremely variable clinical phenotype and may include heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal.	Preferred (foundation metadata concept)
A rare chromosomal anomaly characterised by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophageal and urogenital anomalies.	Preferred (foundation metadata concept)
A rare chromosomal anomaly characterised by an intrauterine and postnatal growth retardation, short stature, developmental delay, learning difficulties, hearing loss, hypermetropia and a recognisable facial dysmorphism including prominent forehead, long, myopathic facies, fine eyebrows, small mouth and micrognathia.	Preferred (foundation metadata concept)
A rare chromosomal anomaly characterised by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region.	Preferred (foundation metadata concept)
A rare chromosomal anomaly characterised by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.	Preferred (foundation metadata concept)
A rare chromosomal anomaly characterised by mild intellectual disability, developmental delay, short stature, hypotonia and dysmorphic facial features. Anxiety and short attention span have also been reported.	Preferred (foundation metadata concept)
A rare chromosomal anomaly characterised by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations.	Preferred (foundation metadata concept)
A rare chromosomal anomaly clinically characterised by mild to severe intellectual disability, severe developmental delay (psychomotor and speech development), hypotonia with tendency to later develop progressive hypertonia, and characteristic facial features. The main congenital anomalies associated include central nervous system (CNS) malformations such as hypoplasia/agenesis of the corpus callosum (80%), skeletal abnormalities such as scoliosis/kyphosis or dislocated hips (60%), and congenital heart defects (25%).	Preferred (foundation metadata concept)
A rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome.	Preferred (foundation metadata concept)
A rare chromosomal anomaly of chromosome 13 characterised by a widely variable phenotype (ranging from mild to severe) principally characterised by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioural problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 20 with a highly variable phenotype. Typical characteristics are global developmental delay with important speech and language deficits, intellectual disability, hypotonia, epilepsy, behavioural anomalies (for example autism spectrum disorder behaviours) and hand and feet skeletal malformations. Craniofacial dysmorphism, including microcephaly, high forehead, hypertelorism, broad nasal bridge, bulbous nasal tip, malformed ears, long philtrum, thin upper lip and microretrognathia may be occasionally associated.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterised by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome, resulting from the partial deletion of chromosome 16, characterised by pre- and postnatal growth delay, severe developmental delay, intellectual disability, speech delay, and craniofacial dysmorphism (e.g. microcephaly, hypertelorism, downslanted palpebral fissures, ptosis, telecanthus, low set and dysmorphic ears, broad flat nasal bridge, down-turned mouth corners, high palate, retrognathia). Patients may also present congenital cataract, mild synophrys, hypotonia, and poor social contact. Congenital heart anomalies (e.g. ventricular septal defect, patent ductus arteriosus) have also been reported.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, outside the DiGeorge critical region. The phenotype is characterised by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features present in half of the individuals include microcephaly, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities (low-set ears, tags and pits), hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognathia and pointed chin. For certain very distal deletions including the SMARCB1 gene, there is a risk of developing malignant rhabdoid tumours. Most deletions are de novo.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 12, characterised by intellectual disability, global developmental delay with prominent language impairment, behavioural abnormalities and mild facial dysmorphism (including frontal bossing, downslanting palpebral fissures, epicanthal folds, broad, depressed nasal bridge with bulbous nasal tip, low-set ears with underdeveloped helices). Other associated features may include skeletal abnormalities (butterfly vertebrae, scoliosis), strabismus, optic nerve hypoplasia, and brain malformations.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterised by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behaviour. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterised by developmental delay, intellectual disability, behavioural anomalies, and non-specific craniofacial dysmorphism. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, and seizures have also been reported. Penetrance is incomplete. In 70% of cases, the duplication is inherited from an asymptomatic parent.	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)