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 dystrophic epidermolysis bullosa (DEB) characterised by generalised cutaneous and mucosal blistering that is not associated with severe deformities.	Preferred (foundation metadata concept)
A rare early childhood onset progressive encephalopathy characterised by extreme cerebellar atrophy, infantile onset hypotonia, infantile spasms with hypsarrhythmia, profound intellectual disability, and optic atrophy. PEHO stands for the main features of the syndrome: Progressive encephalopathy with oedema, Hypsarrhythmia and Optic atrophy.	Preferred (foundation metadata concept)
A rare ectodermal dysplasia characterised by the association of epibulbar dermoids and aplasia cutis congenital.	Preferred (foundation metadata concept)
A rare ectodermal dysplasia syndrome characterised by a variably severe clinical picture comprising dry, thin skin, onychodysplasia, trichodysplasia, and dental abnormalities (such as hypodontia, microdontia, and persistence of deciduous teeth). There have been no further descriptions in the literature since 1990.	Preferred (foundation metadata concept)
A rare ectodermal dysplasia syndrome characterised by bilateral retinitis pigmentosa, trichodysplasia (generalised hypotrichosis, structural changes), dental anomalies, onychodysplasia, and dry and scaly skin. There have been no further descriptions in the literature since 1988.	Preferred (foundation metadata concept)
A rare ectodermal dysplasia syndrome characterised by congenital onychodystrophy (particularly of the distal nail) and severe hypotrichosis with alopecia involving the eyebrows, eyelashes and body hair. Scalp, beard, pubic and axillary hair is brittle and shows a twisting pattern on electron microscopy. There have been no further descriptions in the literature since 1991.	Preferred (foundation metadata concept)
A rare ectodermal dysplasia syndrome characterised by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.	Preferred (foundation metadata concept)
A rare ectodermal dysplasia syndrome characterised by hypotrichosis of scalp and eyebrows, finger syndactyly, intellectual disability and early eruption of teeth. Facial dysmorphism (i.e. round face with prominent forehead, cheeks and ears, and upward-slanting palpebral fissures), hypoplasia of median and distal phalanges, and kyphosis are additionally observed features. There have been no further descriptions in the literature since 1996.	Preferred (foundation metadata concept)
A rare ectodermal dysplasia syndrome characterised by hypotrichosis, tooth enamel hypoplasia, hypoplastic nails, palmoplantar keratoderma, hyperhidrosis on hands, face, and scalp, bilateral partial cutaneous syndactyly, and dysmorphic facial features with large prominent ear pinnae, pointed nose, and thin upper lips. Association of cardiomegaly has also been reported.	Preferred (foundation metadata concept)
A rare ectodermal dysplasia syndrome characterised by linear hypopigmentation and hypotrichosis following the lines of Blaschko, symmetric or asymmetric facial dysmorphism, and body asymmetry, in association with ocular, dental, and acral anomalies. Reported manifestations include microphthalmia, strabismus, myopia, oligodontia, microdontia, conical teeth, abnormal enamel, brachydactyly, syndactyly, and broad first toe, as well as dysmorphic facial features such as downslanting palpebral fissures, broad nasal bridge, malar hypoplasia, and microstomia. Brain imaging may show cystic leucoencephalopathy and ventricular dilation.	Preferred (foundation metadata concept)
A rare ectodermal dysplasia syndrome characterised by neonatal teeth, hypo- or oligodontia of the secondary dentition, flexural acanthosis nigricans, and sparse body and scalp hair (the latter being thin and slow-growing). There have been no further descriptions in the literature since 1995.	Preferred (foundation metadata concept)
A rare ectodermal dysplasia syndrome characterised by neonatal teeth, trichodystrophy (with straw-like, discoloured and fragile hair), onychodystrophy, and malformation of the hands and feet consisting of simian-like hands with transverse palmar creases and prominent interdigital folds, brachydactyly, and marked shortness of the first metacarpal and metatarsal bones with hypoplasia of the distal phalanges. There have been no further descriptions in the literature since 1997.	Preferred (foundation metadata concept)
A rare ectodermal dysplasia syndrome characterised by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple naevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia.	Preferred (foundation metadata concept)
A rare ectodermal dysplasia syndrome characterised by the association of amelogenesis imperfecta and trichodysplasia with symmetrical pits in the cuticles of hair shafts. There have been no further descriptions in the literature since 1993.	Preferred (foundation metadata concept)
A rare ectodermal dysplasia syndrome characterised by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet.	Preferred (foundation metadata concept)
A rare ectodermal dysplasia syndrome characterised by the association of hypocalcified and hypoplastic tooth enamel, distal finger and toenail onycholysis with subungual hyperkeratosis, and functional hypohidrosis. Additional manifestations include seborrhoeic scalp dermatitis and rough, dry skin. Lacrimal punctum may be occasionally absent. There have been no further descriptions in the literature since 1975.	Preferred (foundation metadata concept)
A rare ectodermal dysplasia syndrome characterised by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth.	Preferred (foundation metadata concept)
A rare ectodermal dysplasia syndrome, characterised by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails.	Preferred (foundation metadata concept)
A rare endocrine disease characterised by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organisation), selective absence of pituitary luteinising hormone in otherwise normal brain, and neonatal demise. Patients present with hypogonadotropic hypogonadism, hypoglycaemia, seizures, encephalopathy and diabetes insipidus. There have been no further descriptions in the literature since 1988.	Preferred (foundation metadata concept)
A rare endocrine disease characterised by hyperinsulinaemic hypoglycaemia associated with the presence of autoantibodies to endogenous insulin without previous exposure to exogenous insulin. Patients usually present in adulthood with postprandial, fasting or exercise-induced hypoglycaemia, often with pronounced neuroglycopenic symptoms. Laboratory investigations reveal markedly elevated serum insulin, as well as increased C-peptide and proinsulin. The condition may be associated with other autoimmune diseases, monoclonal gammopathy, and/or recent exposure to certain medications.	Preferred (foundation metadata concept)
A rare endocrine disease characterised by lentigines with a specific peri-orifical distribution, blue naevus, myxomas, various endocrine tumours including primary pigmented nodular adrenocortical disease (PPNAD), acromegaly, thyroid tumours, and a wide range of other tumours.	Preferred (foundation metadata concept)
A rare endocrine disease characterised by neonatal hypoglycaemia, prolonged cholestatic jaundice, and seizures. Typical are low plasma ACTH and cortisol levels in the absence of structural pituitary defects, and sometimes low partial growth hormone deficiency is associated.	Preferred (foundation metadata concept)
A rare endocrine disease characterised by severe chronic hypernatraemic dehydration caused by decreased intake of water based on impaired thirst perception, due to a selective defect in hypothalamic osmoregulation of thirst. Structural hypothalamic lesions are absent and arginine vasopressin secretion is normal.	Preferred (foundation metadata concept)
A rare endocrine disorder characterised by primary hypogonadism and partial alopecia. Females present with Mullerian hypoplasia, absent or streak ovaries, hypoplastic internal genitalia, primary amenorrhoea, and sparse or absent axillary and pubic hair. Some patients also presented sparse eyebrows, microcephaly, flat occiput, dorsal kyphosis or mild intellectual disability. The only described male presents with germinal cell aplasia. Affected individual all present partial scalp alopecia.	Preferred (foundation metadata concept)
A rare endocrine syndrome characterised by the association of hypogonadotropic hypogonadism (with primary amenorrhoea and lack of secondary sexual development) and retinitis pigmentosa.	Preferred (foundation metadata concept)
A rare ependymal tumour characterised by the presence of a RELA fusion gene. This supratentorial grade II or III ependymoma most often occurs in children and young adults. Histopathological features are variable, but a distinctive vascular pattern of branching capillaries or clear-cell change are common. Patients may present with focal neurological deficits, seizures, or features of raised intracranial pressure. Prognosis is worse than in other supratentorial ependymomas.	Preferred (foundation metadata concept)
A rare epidermal disease characterised by the association of punctate acrokeratoderma with a pigmentary disorder. Patients present skin-coloured keratotic papules on the hands and feet and pronounced hyperkeratosis of the palms and soles. Freckle-like pigmentation on the dorsal surfaces of the hands and feet is also reported. Histological examination reveals no fragmentation of dermal elastic tissue. There have been no further descriptions in the literature since 1993.	Preferred (foundation metadata concept)
A rare epidermal naevus disorder characterised by the association of speckled lentiginous naevi with epidermal sebaceous naevi, and extracutaneous anomalies.	Preferred (foundation metadata concept)
A rare epilepsy syndrome characterised by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalised tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome.	Preferred (foundation metadata concept)
A rare epilepsy syndrome characterised by infantile- to early childhood-onset of progressive myoclonic seizures (occasionally accompanied by generalised tonic-clonic seizures) and severe, progressive neurological regression, leading to psychomotor and cognitive decline, cerebellar ataxia, dementia and, frequently, early death. Vision loss may be associated. EEG typically reveals epileptiform activity with predominance in the posterior region and photosensitivity.	Preferred (foundation metadata concept)
A rare epilepsy syndrome characterised by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.	Preferred (foundation metadata concept)
A rare epilepsy syndrome characterised by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioural disturbances.	Preferred (foundation metadata concept)
A rare epileptic and developmental encephalopathy characterised by seizure onset during the first months of life, focal seizures arising independently in both hemispheres, marked drug resistance, and severe, long-term cognitive disability.	Preferred (foundation metadata concept)
A rare epithelial carcinoma, arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland, characterised by nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (e.g. primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor.	Preferred (foundation metadata concept)
A rare epithelial tumour of pancreas characterised by a solid, nodular mass growing within dilated pancreatic ducts, histologically composed of nodules of back-to-back tubular glands forming large cribriform structures, with high-grade dysplasia and ductal differentiation. There is no overt production of mucin. About half of the tumours occur in the head of the pancreas, one third involve the gland diffusely. Patients present with nonspecific symptoms including abdominal pain, vomiting, weight loss, steatorrhoea, and diabetes mellitus, while obstructive jaundice is uncommon. This tumour type accounts for less than 1% of exocrine neoplasms and 3% of intraductal neoplasms of the pancreas.	Preferred (foundation metadata concept)
A rare epithelial tumour of the exocrine pancreas, histologically characterised by presence of keratinisation and/or intracellular bridges and lymphovascular and perineural invasion, as well as high metastatic potential. Patients present with upper abdominal and back pain, anorexia, weight loss, nausea, vomiting and jaundice.	Preferred (foundation metadata concept)
A rare epithelial tumour of the large intestine, arising from enterochromaffin cells, most commonly in the caecum or ascending colon. The tumour is usually slow-growing and can be diagnosed as an incidental finding in an asymptomatic patient, while in the later stages patients can present with abdominal pain, palpable abdominal mass, changes in bowel habits, signs of bowel obstruction, gastrointestinal bleeding, anorexia, weight loss or, rarely, carcinoid syndrome (facial flushing, diarrhoea, tachycardia, hypo- and hypertension, cardiac abnormalities).	Preferred (foundation metadata concept)
A rare extraskeletal chondroma located in the head and neck region, histologically typically characterised by lobules of mature, adult hyaline cartilage with chondrocytic cells identifiable in lacunae, and prominent fibrosis. Malignant transformation has not been described.	Preferred (foundation metadata concept)
A rare familial cardiomyopathy characterised by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy.	Preferred (foundation metadata concept)
A rare familial facial anomaly characterised by a nodule beneath the vermilion border of the upper lip that tapered into the frenulum. The lesion is soft, easily compressible and asymptomatic. It can be wide (up to 8 mm) or flat and less prominent. Regression of the nodule by age has been reported. There have been no further descriptions in the literature since 1994.	Preferred (foundation metadata concept)
A rare familial hyperaldosteronism characterised by elevated aldosterone levels and low plasma renin activity, early-onset hypertension, and hypokalaemia. Developmental delay, learning disabilities, behavioural abnormalities, and attention deficit disorder are observed in some patients.	Preferred (foundation metadata concept)
A rare familial hyperinsulinism characterised by postprandial hyperinsulinaemic hypoglycaemia, negative 72-hour fasts, negative preoperative localisation studies for insulinoma, and positive selective arterial calcium infusion tests. Histopathological analysis reveals diffuse islet hyperplasia with increased number and size of islet cells.	Preferred (foundation metadata concept)
A rare familial partial lipodystrophy characterised by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinaemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.	Preferred (foundation metadata concept)
A rare familial partial lipodystrophy characterised by adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasmas, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axillae and neck, hirsutism, and muscular hypertrophy of the lower limbs.	Preferred (foundation metadata concept)
A rare familial partial lipodystrophy characterised by severe partial lipoatrophy affecting the limbs, trunk, and abdomen, together with faciocervical fat accumulation. Additional manifestations include diabetes, acanthosis nigricans, liver steatosis, and hypertriglyceridaemia, as well as low serum leptin and adiponectin levels. Severe cardiac rhythm and conduction disturbances have also been reported.	Preferred (foundation metadata concept)
A rare familial renal cancer syndrome characterised by a predisposition for developing bilateral and multifocal classic type papillary renal cell carcinomas (formerly known as type 1 papillary renal cell carcinoma until the 2022 WHO classification of renal tumours).	Preferred (foundation metadata concept)
A rare fatal amyloid disease in young people caused by a mutation in cystatin C. This condition predisposes towards intracerebral haemorrhage and dementia and is inherited in a dominant pattern.	Preferred (foundation metadata concept)
A rare form of Ehlers-Danlos syndrome (EDS) characterised by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and severe, progressive cardiac valvular defects comprising mitral and/or aortic valve insufficiency.	Preferred (foundation metadata concept)
A rare form of X-linked Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterised by infancy- to childhood-onset of progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, bilateral, profound, prelingual sensorineural hearing loss and progressive optic neuropathy.	Preferred (foundation metadata concept)
A rare form of amyloidosis characterised by accumulation and extensive visceral deposition of an amyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.	Preferred (foundation metadata concept)
A rare form of autosomal dominant optic atrophy (ADOA) characterised by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.	Preferred (foundation metadata concept)
A rare form of axonal peripheral sensorimotor neuropathy characterised by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms.	Preferred (foundation metadata concept)
A rare form of congenital adrenal hyperplasia due to P450 oxidoreductase deficiency and characterised by glucocorticoid deficiency, virilisation of external genitalia in females, and undervirilisation in males. Findings range from severely affected infants with 46,XX and 46,XY disorders/differences of sex development (DSD) and cortisol deficiency to mildly affected women who appear to have polycystic ovary syndrome, or mildly affected men with gonadal insufficiency.	Preferred (foundation metadata concept)
A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism characterised by episodes of hypoglycaemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. Presentation is of recurring episodes of hypoglycaemia associated with elevated insulin levels, within 30 minutes of a short period of anaerobic exercise. The degree of hypoglycaemia associated with exercise is variable and is only partially responsive to diazoxide.	Preferred (foundation metadata concept)
A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to UCP2 deficiency and characterised by hypoglycaemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.	Preferred (foundation metadata concept)
A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD; HADH gene) deficiency and characterised by hyperinsulinaemic hypoglycaemia with seizures and reported to respond well to diazoxide. It presents with the classical manifestations of hyperinsulinaemic hypoglycaemia. Exceptional complications include sudden death, and in one case fulminant hepatic failure.	Preferred (foundation metadata concept)
A rare form of congenital disorders of N-linked glycosylation characterised by gastrointestinal symptoms (diarrhoea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), oedema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.	Preferred (foundation metadata concept)
A rare form of congenital disorders of N-linked glycosylation characterised by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).	Preferred (foundation metadata concept)
A rare form of disorder of protein N-glycosylation characterised by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21).	Preferred (foundation metadata concept)
A rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterised by generalised congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralised tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.	Preferred (foundation metadata concept)
A rare form of haemochromatosis characterised by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.	Preferred (foundation metadata concept)
A rare form of hereditary episodic ataxia characterised by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia.	Preferred (foundation metadata concept)
A rare form of hereditary episodic ataxia characterised by vestibular ataxia, vertigo, tinnitus, and interictal myokymia.	Preferred (foundation metadata concept)
A rare form of hereditary spastic paraplegia characterised by delayed walking, toe walking, unsteady and spastic gait, hyperreflexia of the lower limbs, and extensor plantar responses. Upper limbs spasticity and dystonia, subclinical axonal neuropathy, cognitive impairment and intellectual disability have also been associated.	Preferred (foundation metadata concept)
A rare form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterised in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset.	Preferred (foundation metadata concept)
A rare form of idiopathic inflammatory myopathy characterised by acute or subacute, severe, symmetrical, proximal muscle weakness usually associated with muscle-specific antibodies (anti-HMGCR or anti-SRP). Histopathological characteristics include myocyte necrosis and regeneration without significant inflammation, and C5b-9 deposition on non-necrotic myofibres.	Preferred (foundation metadata concept)
A rare form of limited dorsal myeloschisis (LDM), characterised by the stalk attached to the apex of a fully epithelialised meningocele. Chiari II malformation is not present.	Preferred (foundation metadata concept)
A rare form of limited dorsal myeloschisis (LDM), with characteristics of a non-saccular cutaneous stigmata (midline skin abnormality classically dimple, pit or sometimes angioma), the stalk is attached to the cutaneous stigmata. Fibroneural stalk varies in thickness and complexity.	Preferred (foundation metadata concept)
A rare form of lissencephaly with cerebellar hypoplasia characterised by pronounced microcephaly (<= -3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres.	Preferred (foundation metadata concept)
A rare form of lissencephaly with cerebellar hypoplasia characterised by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of this disorder.	Preferred (foundation metadata concept)
A rare form of localised hypertrichosis characterised by hair growth near the laryngeal prominence during childhood.	Preferred (foundation metadata concept)
A rare form of neurofibromatosis characterised by the development of multiple schwannomas (nerve sheath tumours), without involvement of the vestibular nerves, and often associated with chronic pain. Dysaesthesia and paraesthesia may also be present. Common localisations include the spine, peripheral nerves, and the cranium.	Preferred (foundation metadata concept)
A rare form of primordial dwarfism, often microcephalic, characterised by short stature, global developmental delay, variable intellectual disability and recognizable dysmorphic facial features (triangular face, prominent forehead, deeply set eyes, low-set ears, wide nose, malar hypoplasia, wide mouth, thick lips, and widely spaced teeth).	Preferred (foundation metadata concept)
A rare form of pseudohyperaldosteronism characterised by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.	Preferred (foundation metadata concept)
A rare form of pterygium, which develops in early adulthood, characterised by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision.	Preferred (foundation metadata concept)
A rare form of scleritis characterised by tender or painful, violet-blueish eye, with oedema and injection of deep scleral vessels, in the absence of infection or systemic autoimmune diseases. The disease may be unilateral or bilateral. Other ocular signs depend on the localisation (anterior or posterior) and on the type of scleritis (diffuse, nodular or necrotising). Extension to other layers of the eye and to peri-ocular tissues as well as visual impairment are potential complications. Idiopathic scleritis is more frequent in children than in adults.	Preferred (foundation metadata concept)
A rare form of serine deficiency syndrome characterised clinically by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.	Preferred (foundation metadata concept)
A rare form of spinal muscular atrophy characterised by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. Muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.	Preferred (foundation metadata concept)
A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.	Preferred (foundation metadata concept)
A rare form of syndromic obesity characterised by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature.	Preferred (foundation metadata concept)
A rare frontonasal dysplasia characterised by a craniofacial phenotype comprising frontal bossing with high anterior hairline, ptosis, hypertelorism, epicanthus inversus, flat nasal bridge, and broad nasal tip. Large anterior fontanelle, sagittal synostosis, and cranial base anomalies have also been described.	Preferred (foundation metadata concept)
A rare frontonasal dysplasia characterised by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.	Preferred (foundation metadata concept)
A rare frontonasal dysplasia characterised by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears.	Preferred (foundation metadata concept)
A rare frontonasal dysplasia characterised by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.	Preferred (foundation metadata concept)
A rare frontonasal dysplasia malformation syndrome characterised by an oxycephalic skull with craniosynostosis, wide nose with anteverted nostrils, hirsutism at base of nose, agenesis of the nasolacrimal ducts, and bilateral, symmetrical nasolabial cysts on upper lip. Additional features may include hypertelorism. There have been no further descriptions in the literature since 1991.	Preferred (foundation metadata concept)
A rare functional neutrophil defect characterised by increased susceptibility to aggressive periodontitis in otherwise young, healthy individuals, due to impaired polymorphonuclear leucocyte chemotaxis toward bacterial formylpeptides. The periodontitis is rapidly progressive with progredient destruction of periodontal tissue and attachment loss.	Preferred (foundation metadata concept)
A rare functioning neuroendocrine tumour of pancreas characterised by a typically well-differentiated neoplasm composed of cells expressing serotonin. Patients may present with atypical carcinoid syndrome with abdominal pain, diarrhoea, weight loss, and/or flushing. Carcinoid syndrome is usually present only when there are liver metastases. The tumours tend to be larger than non-functioning tumours and are associated with a poorer prognosis because they are almost always metastatic.	Preferred (foundation metadata concept)
A rare gastroenterologic disease characterised by the histopathological finding of a thickened (> 10 µm) gastric subepithelial collagen layer in association with an inflammatory infiltrate in the lamina propria. Patients typically present with upper abdominal pain and severe iron deficiency anaemia. The condition is not commonly associated with autoimmune diseases, and involvement of the colon is less frequent than in the adult form. The disease takes a generally benign course with limited long-term morbidity and no increased mortality.	Preferred (foundation metadata concept)
A rare gastrooesophageal disease characterised by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anaemia, abdominal pain not related to eating or bowel habits and absence of peripheral oedema.	Preferred (foundation metadata concept)
A rare genetic autoinflammatory syndrome characterised by early-onset of repeated episodes of fever, nodular neutrophil-rich panniculitis, arthralgia, and lipodystrophy. Additional reported features include diarrhoea, failure to thrive, lymphadenopathy, and vasculitis. Laboratory examination may reveal elevated serum C-reactive protein and leucocytosis with neutrophilia in the absence of infection.	Preferred (foundation metadata concept)
A rare genetic autoinflammatory syndrome with immune deficiency characterised by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular, and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum, and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections, and purulent upper respiratory tract infections have also been reported.	Preferred (foundation metadata concept)
A rare genetic autoinflammatory syndrome with skin involvement characterised by cold-induced urticarial rash without angioedema starting in infancy and systemic inflammation due to autosomal dominant mutations in the coagulation factor 12 (F-12) gene. In addition to cold-induced, non-pruritic urticarial rash, patients present with headache, mild to severe arthralgia, fatigue, subfebrile evening temperature, chills, and malaise. Systemic symptoms worsen during the cold season and over the years.	Preferred (foundation metadata concept)
A rare genetic bone development disorder characterised by involvement of the clavicles and symmetrical generalised metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign.	Preferred (foundation metadata concept)
A rare genetic bone development disorder characterised by multiple congenital fractures, slender ribs and long bones, deficient ossification of the skull, and dysmorphic facial features reminiscent of Hallermann-Streiff syndrome (such as high forehead and triangular face with small jaw, deep-set eyes, beaked, narrow nose, downturned mouth, and posteriorly angulated ears). Bilateral microphthalmia, cataracts, and pulmonary hypoplasia have also been reported. The disease is fatal in the neonatal period. There have been no further descriptions in the literature since 1995.	Preferred (foundation metadata concept)
A rare genetic bone development disorder characterised by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported.	Preferred (foundation metadata concept)
A rare genetic bone developmental disorder characterised by generalised vertebral segmentation and fusion defects, disproportionate short stature (with predominant truncal shortness) and thoracolumbar scoliosis, associated with mild intellectual disability, hypospadias, partial cutaneous finger syndactyly and mild swan neck-like deformities of the fingers.	Preferred (foundation metadata concept)
A rare genetic bone disease characterised by multifocal, painless, benign fibrocemento-osseous lesions of the jaws which expand progressively and can cause severe facial deformity. It usually manifests at an early age and is often associated with abnormalities of the long bones and pathologic fractures. Radiologically, the lesions are of mixed radiopaque/radiolucent appearance. Incomplete surgical removal may lead to more rapid growth of the residual lesion.	Preferred (foundation metadata concept)
A rare genetic bone disease characterised by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described.	Preferred (foundation metadata concept)
A rare genetic bone disorder characterised by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.	Preferred (foundation metadata concept)
A rare genetic brachydactyly syndrome characterised by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood.	Preferred (foundation metadata concept)
A rare genetic cardiac disease characterised by variably expressed atrial tachyarrhythmia (such as atrial flutter, paroxysmal or chronic atrial fibrillation, ectopic atrial tachycardia, or multifocal atrial tachycardia), infra-Hisian conduction system disease, and vulnerability to dilated cardiomyopathy. Age of onset ranges between childhood and adulthood.	Preferred (foundation metadata concept)

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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)