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 trisomy with characteristics of reduced fetal movements and intrauterine growth retardation, low birth weight and multiple congenital anomalies. The latter include amongst others facial dysmorphism (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 adult onset of recurrent pain in legs with or without cramps, progressive loss of deep tendon reflexes and vibration sense, paraesthesia in the feet and later in the hands. Patients often experience sleep disturbances and mild sensory ataxia.	Preferred (foundation metadata concept)
A rare axonal hereditary motor and sensory neuropathy characterised by progressive distal muscle weakness and atrophy of variable onset and severity. Patients present with postural instability, gait and running difficulties, decreased deep tendon reflexes, foot deformities, fine motor impairment and distal sensory impairment. Dysarthria, dysphagia and mild cognitive and behavioural abnormalities have also been reported.	Preferred (foundation metadata concept)
A rare axonal hereditary motor and sensory neuropathy with characteristics of adult onset of slowly progressive distal muscle weakness and atrophy, decreased deep tendon reflexes of lower limbs and mild distal sensory loss leading to gait difficulties in most patients.	Preferred (foundation metadata concept)
A rare axonal hereditary motor and sensory neuropathy with characteristics of 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 axonal hereditary motor and sensory neuropathy with characteristics of progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999.	Preferred (foundation metadata concept)
A rare axonal hereditary motor and sensory neuropathy with characteristics of slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity.	Preferred (foundation metadata concept)
A rare axonal hereditary motor and sensory neuropathy with early onset (less than 10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop.	Preferred (foundation metadata concept)
A rare bacterial infectious disease caused by extraintestinal infection of non-typhoidal serotypes of Salmonella enterica in patients with underlying HIV infection, malaria or malignancy. It has a high mortality rate and patients typically present with fever, pallor and respiratory signs (cough, tachypnoea, pneumonia). Gastrointestinal manifestations (diarrhoea, vomiting, abdominal pain) are not common. Occasionally, organ abscesses, septic shock and meningitis may be observed.	Preferred (foundation metadata concept)
A rare bacterial pulmonary infectious disease caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterised by severe respiratory failure, extensive, rapidly progressing pneumonia and haemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as haemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated.	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 autosomal dominant disorder of fat tissue proliferation with characteristic of presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984.	Preferred (foundation metadata concept)
A rare benign congenital genetic skin disorder with characteristics of permanent and asymptomatic erythema of the palmar and less frequently the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient.	Preferred (foundation metadata concept)
A rare benign congenital malformation of the lymphatic system with a polypoidal, variable-sized, soft tissue mass located in the larynx. Most lesions manifest by the second year of life and depending on the size, patients may present with changes in voice, dysphagia, stridor, airway obstruction and/or respiratory distress. Cystic hygroma of the neck is frequently associated.	Preferred (foundation metadata concept)
A rare benign cutaneous neoplasm containing keratinised epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue which usually manifests as a slow-growing, painless mass in the submandibular or sublingual space. Depending on the location, and especially after sudden enlargement, it can cause dyspnoea, dysphagia or dysphonia.	Preferred (foundation metadata concept)
A rare benign cutaneous neoplasm containing keratinised epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue, which usually manifests as a firm, nonpulsatile mass, often with a sinus opening or a hair-bearing punctum, most commonly located in the periorbital and nasal area.	Preferred (foundation metadata concept)
A rare benign genetic skin disease with characteristics of numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported.	Preferred (foundation metadata concept)
A rare benign highly vascularised tumour of the central nervous system most often located in the cerebellum or spinal cord. The disease presents in adulthood and manifests with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and is often associated with von Hippel-Lindau disease. Exceptional cases of haemangioblastoma arising outside of the central nervous system have been reported.	Preferred (foundation metadata concept)
A rare benign liver tumour of childhood that usually presents before the age of 2. The tumour is of mesenchymal origin and has a variable clinical presentation.	Preferred (foundation metadata concept)
A rare benign nail tumour originating in the nail matrix characterised by localised or diffuse thickening of the nail plate, increased transverse or longitudinal overcurvature, a yellow longitudinal band of variable width, swelling of the proximal nail fold, multiple splinter haemorrhages and the presence of honeycomb-like cavities in the distal margin of the nail plate. Nail dystrophy and dorsal pterygium may be associated. Occasionally a pigmented lesion has been reported.	Preferred (foundation metadata concept)
A rare benign nail tumour originating in the nail matrix characterised by localised pachyonychia and variable degrees of pigmentation: pigmented, melanocytic (common, longitudinal melanonychia that may simulate a foreign body) or hypopigmented. Histopathology demonstrates a purely epithelial tumour with endo-keratinisation in the deep portion and concentrically arranged nests of pre-keratogenous and keratogenous cells.	Preferred (foundation metadata concept)
A rare benign neoplasm of the central nervous system characterised by the development of multiple or rarely solitary meningioma in two or more blood relatives without other apparent syndromic manifestations. Depending on the localisation, growth rate and size of the tumours, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic.	Preferred (foundation metadata concept)
A rare benign neoplasm of the liver. Mean age at diagnosis is 34 years and the disease rarely occurs in children. Most patients are asymptomatic and lesions are found incidentally during laparotomy or radiologic studies performed for other reasons. In most cases, adenomas develop for unclear reasons in an otherwise healthy liver. Some predisposing conditions have been identified: prolonged oral contraceptive use, glycogenosis type III and IV, congenital portocaval shunt and, in males, use of anabolic steroids. Malignant transformation is rare and the long-term prognosis is good.	Preferred (foundation metadata concept)
A rare benign non-Langerhans cell histiocytosis characterised by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-coloured to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and mid dermis.	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 peripheral nerve sheath tumour disorder characterised by multiple painful mucin-rich plexiform neurofibromas located in the orbits, cranium, large spinal nerves and mucosa. Also associated with a marfanoid habitus, enlarged corneal nerves, congenital neuronal migration anomalies and facial dysmorphism which includes ptosis, proptosis, prominent nose, full lips, gingival hyperplasia and multiple subcutaneous and submucosal nodules in the lips and sublingual zone.	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 benign retinal vascular disease characterised by solitary or multiple, unilateral or bilateral, intra-retinal tumour(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub and intraretinal exudates, epiretinal membranes, exudative retinal detachment and cystoid macular oedema, as well as, occasionally, retinal and vitreous haemorrhage. Patients may present with visual loss, floaters, and/or photopsia. Association with various conditions, such as retinitis pigmentosa, congenital retinal toxoplasmosis, retinopathy of prematurity or coloboma has been reported.	Preferred (foundation metadata concept)
A rare benign sex cord-stromal neoplasm with a typically unilateral location in the ovary. The disease has characteristics of mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and occasionally, with post-menopausal bleeding. Large neoplasms of greater than 10cm are often associated with pleural effusion and ascites (Meig syndrome triad).	Preferred (foundation metadata concept)
A rare benign skin tumour disorder characterised by the presence of congenital, large (few centimetres), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed.	Preferred (foundation metadata concept)
A rare benign tumour characterised by the formation of intra-abdominal multilocular cystic masses. It occurs more frequently in women of child-bearing age. In women, the masses are generally located on the peritoneal surface of the uterus and rectum, while in men they are generally located on the peritoneal surface of the bladder and rectum. The tumour can also spread into the upper portions of the peritoneal cavity. Appears to originate from the peritoneal mesothelium.There is no relation with asbestos exposure. Invasive or malignant progression has been described.	Preferred (foundation metadata concept)
A rare benign tumour-like lesion. Approximately 140 cases have been reported worldwide, with a higher prevalence for male adults of Asian origin and subjects affected by systemic diseases such as rheumatoid arthritis. There are two clinical presentations. The active form most commonly manifests with abdominal pain, fever and loss of body weight. The second form is usually clinically silent. The aetiopathogenesis remains unclear.	Preferred (foundation metadata concept)
A rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and with characteristics of an apparently asymptomatic clinical phenotype.	Preferred (foundation metadata concept)
A rare bone development disorder with characteristics of intellectual disability, short stature, turribrachycephaly, facial dysmorphism (severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (including syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987.	Preferred (foundation metadata concept)
A rare bone developmental disorder belonging to a group of oromandibular limb hypogenesis syndromes. The major anomalies occuring commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976.	Preferred (foundation metadata concept)
A rare bone disease with anomaly of both index fingers (accessory ossicle at the metacarpophalangeal joint with resulting ulnar deviation) and typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. In 80% of cases, the digital abnormality is associated with Pierre Robin sequence. Additional frequently reported congenital malformations include cardiac defects such as ventricular septal defect and interatrial communication. Homozygous and compound heterozygous mutations in TGDS (13q32.1) have been implicated as causal in this syndrome. Transmission is autosomal recessive. Genetic counselling is recommended.	Preferred (foundation metadata concept)
A rare brain inflammatory disease characterised by subacute or insidious onset of variable neurological features including cognitive dysfunction (memory impairment, hallucinations, confusion, amnesia), central hyperexcitability (agitation, tremor, myoclonus, exaggerated startle), brain stem involvement (dysphagia, dysarthria, ataxia) and disturbed sleep. Symptoms of dysautonomia include diarrhoea, gastroparesis, and constipation.	Preferred (foundation metadata concept)
A rare brain inflammatory disease with characteristics of thickening of the dura mater of the cranium or spine with at least two histopathological features of IgG4 (immunoglobulin G4) related disease: dense lymphoplasmacytic infiltrate, storiform fibrosis, and/or obliterative phlebitis. Patients typically have non-specific cerebrospinal fluid findings, and might be without systemic involvement or serum IgG4 elevation. Clinical manifestations are caused by mechanical compression of nerve or vascular structure, leading to functional deficit, most commonly headache, cranial nerve palsies, vision problems and motor weakness.	Preferred (foundation metadata concept)
A rare branchial arches and limb primordia development disorder with characteristics of 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 breast malformation with characteristics of the presence, in various members of a single family, of one or more nipple(s) and/or their related tissue, in addition to the normal bilateral chest nipples. The anomaly is usually situated along the embryonic milk line, from axillae to inguinal regions, but other locations are also possible. Association with dental abnormalities, Becker naevus, renal or underlying breast tissue malignancy and genitourinary malformations has been reported.	Preferred (foundation metadata concept)
A rare bulbospinal muscular atrophy characterised by generalised neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994.	Preferred (foundation metadata concept)
A rare but severe condition caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency and may occur at any age. Steroid withdrawal is the most common cause in patients with chronic adrenal insufficiency. A precipitating illness, surgery without adrenal support, pregnancy, any acute or chronic disease, or acute trauma are other potential causes of an acute adrenal crisis. The disorder may result from an acute exacerbation of chronic primary adrenal insufficiency. Laboratory exams show signs of adrenal insufficiency (hypoglycaemia, hyponatraemia and elevated natriuresis, hyperkaliaemia, haemoconcentration, hypochloraemic metabolic acidosis and functional renal failure) confirmed by hypocortisolaemia, increased adrenocorticotropic hormone (ACTH) and an insufficient response to rapid ACTH stimulation testing.	Preferred (foundation metadata concept)
A rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplastic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumour is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfunctional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement.	Preferred (foundation metadata concept)
A rare cancer of corpus uteri composed of squamous cells of varying degree of differentiation that usually affects postmenopausal women and presents with abnormal vaginal discharge, dysfunctional bleeding, abdominal pain and distension. It is often associated with cervical stenosis and pyometra.	Preferred (foundation metadata concept)
A rare cancer of corpus uteri derived from neural crest cells with characteristics of small, round neoplastic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumour is often a large, poorly circumscribed polypoid mass with necrotic areas and haemorrhage. It usually presents with lower abdominal or pelvic pain, irregular vaginal bleeding or discharge, pelvic mass and uterine enlargement.	Preferred (foundation metadata concept)
A rare cancer of corpus uteri presenting as a large, polypoid, intraluminal mass with necrosis, composed of small to intermediate-size, relatively uniform, dyshesive cells displaying no differentiation. It usually presents with dysfunctional bleeding or vaginal discharge and, less often, abdominal pain. Association with Lynch syndrome was reported.	Preferred (foundation metadata concept)
A rare cancer of the uterine cervix composed of nests of large neoplastic cells with ground glass cytoplasm, surrounded by a stroma with prominent eosinophilic infiltrates. It is a poorly differentiated, aggressive variant of adenosquamous carcinoma that usually affects young women and presents with dysfunctional vaginal bleeding and lower abdominal pain. Distant metastases to the lungs, liver spleen or bones are often present at the time of diagnosis. It is often associated with high-risk Human papillomavirus infection (types 18, 16 and 32).	Preferred (foundation metadata concept)
A rare cancer-predisposing syndrome associated with the D1 subgroup of Fanconi anaemia characterised by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other Fanconi anaemia, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumour, brain tumour (often medulloblastoma) and acute lymphoblastic leukaemia /acute myeloid leukaemia.	Preferred (foundation metadata concept)
A rare carcinoma of the pancreas with characteristics of a variable combination of nonspecific signs and symptoms, such as abdominal pain, jaundice, abdominal fullness, anorexia, nausea, vomiting and weight loss. One-third of the patients are asymptomatic. The neoplasm has low malignant potential but can invade locally.	Preferred (foundation metadata concept)
A rare cardiac malformation characterised by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnoea or respiratory distress.	Preferred (foundation metadata concept)
A rare cardiac malformation with characteristics of the enlargement of the left auricle without any other associated cardiac lesions. It can be asymptomatic (discovered fortuitously during routine chest imaging as an unusual cardiac shadow) or present clinically with supraventricular tachyarrhythmia, paroxysmal tachycardia, embolic events, respiratory distress, chest pain, angina pectoris or heart failure.	Preferred (foundation metadata concept)
A rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterised by tracheooesophageal compression symptoms (stridor, dyspnoea, dysphagia, apnoeic episodes, recurrent respiratory infections).	Preferred (foundation metadata concept)
A rare cause of glomerulonephritis characterised by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, and mainly presenting with renal insufficiency, micro-haematuria and nephritic range proteinuria. Aetiology is unknown. The disease is generally considered idiopathic but it may be associated with secondary causes such as monoclonal or oligoclonal gammopathy, hepatitis B and C infections, autoimmune diseases and malignancies.	Preferred (foundation metadata concept)
A rare central nervous system malformation syndrome with characteristics of bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed.	Preferred (foundation metadata concept)
A rare central nervous system malformation syndrome with characteristics of progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination. This phenotype is caused by homozygous mutation in the MED17 gene on chromosome 11.	Preferred (foundation metadata concept)
A rare central nervous system malformation with characteristics of a specific pattern of congenital anomalies affecting the pons, medulla, and cerebellum. Clinical manifestations of multiple cranial nerves deficits, pyramidal and cerebellar signs include neonatal hypotonia, ataxia, sensorineural deafness, reduced vision, language and speech disorders, feeding and swallowing difficulties, facial paralysis and intellectual disability. Various cardiac, gastrointestinal, genitourinary and skeletal defects have been reported.	Preferred (foundation metadata concept)
A rare cerebellar malformation with characteristics of hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected individuals present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor and possible emotional fragility and mild depression.	Preferred (foundation metadata concept)
A rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection.	Preferred (foundation metadata concept)
A rare cerebral malformation with epilepsy syndrome characterised by early-onset gelastic (ictal laughter) or dacrystic (ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalised seizures, with concomitant cognitive decline and behavioural disorders. Some patients also present a precocious puberty.	Preferred (foundation metadata concept)
A rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 with characteristics of pre and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features. It has been described in fewer than 15 patients. Facial dysmorphism includes microcephaly, receding forehead, down-slanting palpebral fissures, ptosis, hypertelorism, low-set malformed ears, smooth philtrum, micrognathia, high-arched palate and a short broad neck. Digital abnormalities include absent fourth and fifth digits, brachydactyly and fifth finger clinodactyly. Genital hypoplasia in males and hypertrichosis are often observed. Intellectual deficit is severe to profound and the prognosis is poor. Trisomy 17p has been reported to be pure, as the result of a de novo 17p duplication or an extra chromosome derived from the 17p arm.	Preferred (foundation metadata concept)
A rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation).	Preferred (foundation metadata concept)
A rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and ophthalmological anomalies were also reported.	Preferred (foundation metadata concept)
A rare chromosomal anomaly characterised by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioural abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate.	Preferred (foundation metadata concept)
A rare chromosomal anomaly characterised by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioural abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviours, depression).	Preferred (foundation metadata concept)
A rare chromosomal anomaly disorder resulting from the partial duplication of the proximal long arm of chromosome 13 with a highly variable phenotype. The disease is principally characterised by increased polymorphonuclear leucocyte projections and persistence of fetal haemoglobin, growth and developmental delay and craniofacial dysmorphism (including microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated.	Preferred (foundation metadata concept)
A rare chromosomal anomaly disorder with a highly variable phenotype. Principle characteristics are growth and developmental delay, intellectual disability, body asymmetry/hypotonia, congenital heart defects, genitourinary abnormalities (cryptorchidism, micropenis, large clitoris, labial swelling), and abnormal skin hyperpigmentation. Patients usually present with craniofacial dysmorphism such as microcephaly, abnormal palpebral fissure, hypertelorism, ear abnormalities, broad nose, low-set ears, micro/retrognathia and cleft or highly arched palate.	Preferred (foundation metadata concept)
A rare chromosomal anomaly from a variable part 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 resulting from the partial duplication of the long arm of chromosome 2. The disorder has characteristics of moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed.	Preferred (foundation metadata concept)
A rare chromosomal anomaly resulting from the partial trisomy of the long arm of chromosome 9 with a variable phenotype. The disease has characteristics of psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome caused by partial duplication of the long arm of chromosome 20. The disorder has characteristics of psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptorchidism are often associated features.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome characterised by pre and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (for example brachy/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (including microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphoedema, heart malformations, aplasia cutis congenita, aortic root dilatation and autistic spectrum disorder have also been reported.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 10. The disease has a highly variable phenotype with principle characteristics of developmental delay (usually of language and speech), variable cognitive impairment, autism spectrum disorder and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12 with a highly variable phenotype. The disorder has typical characteristics of developmental delay, learning disability, intrauterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 13. The syndrome has a highly variable phenotype and typical characteristics of varying degrees of intellectual disability and developmental delay, as well as central nervous system malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 13. The syndrome has characteristics of developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (including micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.	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 a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it primarily has characteristics of significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicanthic folds, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 7. The syndrome has a highly variable phenotype with typical characteristics of holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (including genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome resulting from a partial deletion of the short arm of chromosome 3. The syndrome has a highly variable phenotype with typical characteristics of pre and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome resulting from a partial deletion of the short arm of chromosome 9. The syndrome has a highly variable phenotype with typical characteristics of intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome resulting from a partial duplication of the long arm of chromosome 5. The disorder has characteristics of short stature, moderate intellectual disability, craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism).	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which includes: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (up slanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears).	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16. The disease has characteristics of developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome resulting from a partial interstitial deletion of the short arm of chromosome 9. The disease has characteristics of mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (bilateral epicanthic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia).	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome resulting from partial deletion of chromosome 17. The disease has 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), cafe-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 syndrome resulting from partial trisomy of the long arm of chromosome 20 with high phenotypic variability. The disease has characteristics of neurodevelopmental delay, cardiac malformations (ventricular septal defect, coarctation of aorta) and facial dysmorphism (large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome resulting from the partial deletion of chromosome 16, with characteristics of 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 13. Principle characteristics are global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (for example polydactyly) and agenesis of the corpus callosum.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17. The disease is characterised by renal cystic disease, maturity onset diabetes of the young type 5 and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia has also been reported.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20. The disorder has a highly variable phenotype with typical characteristics of 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 the long arm of chromosome 22 with a highly variable phenotype. The disease has characteristics of 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 include prominent forehead, arched eyebrows, deep set eyes, narrow up slanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognathia and pointed chin.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 1. The disorder has characteristics of developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (for example vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 12. The disorder has characteristics of 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 16. The disease has a highly variable phenotype with typical characteristics of developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 1. The syndrome has a highly variable phenotype and principle characteristics of intellectual disability, short stature, craniofacial dysmorphism (including macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (for example ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 10. Characteristics include mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (including microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (for example iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (for example septal ventricular defect), anal atresia, and cryptorchidism.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 11 with high phenotypic variability. Principle characteristics are craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (atrial septal defect), skeletal (brachy/syndactyly) and genital (micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported.	Preferred (foundation metadata concept)
A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 13 with variable phenotype. Principle characteristics are intellectual disability, psychomotor delay, craniofacial dysmorphism (microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and haemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported.	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)