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 inborn error of metabolism with characteristics of elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. The disease presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline.	Preferred (foundation metadata concept)
A rare inborn error of tyrosine metabolism characterised by hypertyrosinaemia with oculocutaneous manifestations and, in some cases, intellectual deficit.	Preferred (foundation metadata concept)
A rare inborn error of zinc metabolism characterised by recurrent infections, hepatosplenomegaly, anaemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous haematomas have also been reported.	Preferred (foundation metadata concept)
A rare inclusion myopathy characterised by hypotonia and axial muscle weakness leading to spinal rigidity and development of scoliosis and other deformities which can result in respiratory failure. The symptoms are apparent from birth or early childhood. The muscle weakness is not progressive, and most patients remain ambulatory. Muscle biopsies show variable myopathic changes.	Preferred (foundation metadata concept)
A rare infantile onset neurometabolic disease characterised by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.	Preferred (foundation metadata concept)
A rare infectious disease characterised by severe non-purulent encephalitis caused by Borna disease virus 1 (BoDV-1). Patients present with fever, headache, malaise, and fatigue, followed a few days later by nausea, confusion and disorientation, and psychomotor slowing. Ataxia, aphasia, dyspnoea, multifocal myoclonic jerks, and paraplegia have been described. The condition is very often fatal after progress to lethargy, deteriorating brain stem reflexes, and coma. Examination of the cerebrospinal fluid reveals moderate lympho-monocytic pleocytosis and presence of BoDV-1 RNA.	Preferred (foundation metadata concept)
A rare infectious disease that causes no clinical manifestations in the majority of infants. Indeed, the occurrence of congenital infection with EBV has never been demonstrated conclusively and must be very rare. One case has been reported to present after birth, multiple congenital anomalies (micrognathia, cryptorchidism, central cataracts), dystrophy, generalised hypotonia, hepatosplenomegaly, diffuse petechiae and haematomas and multiple areas of metaphysitis of the long bones at birth. A low birth weight was also reported. No specific follow-up of the fetus is recommended following maternal EBV primary-infection.	Preferred (foundation metadata concept)
A rare inflammatory bowel disease characterised by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurrent colitis which lead to untreatable diarrhoea. There have been no further descriptions in the literature since 1991.	Preferred (foundation metadata concept)
A rare inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barré syndrome (GBS).	Preferred (foundation metadata concept)
A rare inflammatory optic neuropathy characterised by recurrent episodes of idiopathic inflammation of the optic nerve head with optic disc oedema associated with macular exudate in a star-shaped pattern. Patients present with acute visual loss, most typically in the form of a large central scotoma. Pain is mild or absent. Bilateral involvement is frequent and usually sequential. The interval between attacks is highly variable, ranging from months to several years. Visual loss is cumulative with each attack and often severe.	Preferred (foundation metadata concept)
A rare inflammatory optic neuropathy characterised by severe and persistent pain followed by subacute visual loss, a relapsing-remitting course, and steroid-dependence. Involvement of both optic nerves is common and is usually sequential. Serum antibodies against aquaporin 4 are absent in most cases. Magnetic resonance imaging shows contrast enhancement of the acutely inflamed optic nerves.	Preferred (foundation metadata concept)
A rare inflammatory rheumatic disease characterised by juvenile onset arthritis that affects fewer than 5 joints during the first 6 months after disease onset.	Preferred (foundation metadata concept)
A rare inflammatory, necrotising, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs, including the kidney, the lungs, the skin and the peripheral nerves.	Preferred (foundation metadata concept)
A rare inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterised by mild-to-moderate bleeding symptoms.	Preferred (foundation metadata concept)
A rare inherited cancer-predisposing syndrome characterised by adult onset of haematologic malignancies mainly affecting the myeloid lineage (such as myelodysplastic syndrome and/or acute myeloid leukaemia), less frequently lymphoid malignancies. Some patients have been reported to develop granulomatous or immune disorders (including sarcoidosis, systemic lupus erythematosus, asthma, eczema, or juvenile arthritis) before or in the absence of haematologic malignancies.	Preferred (foundation metadata concept)
A rare inherited cancer-predisposing syndrome characterised by early-onset hepatocellular carcinoma, genomic instability, and progeroid features, such as short stature, low body weight, muscular atrophy, lipodystrophy, bilateral cataracts, and premature hair greying. Dysmorphic craniofacial features include triangular face, small, deep-set eyes, and micrognathia. Kyphoscoliosis, sloping shoulders, mild pectus excavatum, bilateral contractures of the elbows and fingers, bilateral clinodactyly, and pes planus have also been reported.	Preferred (foundation metadata concept)
A rare inherited cancer-predisposing syndrome characterised by occurrence of multiple synchronous primary carcinoids of the small intestine. Clinical presentation is otherwise indistinguishable from sporadic carcinoids and includes abdominal pain, flushing, and diarrhoea, often becoming manifest only after a long asymptomatic period. Most patients present with low grade tumours. Occurrence of pulmonary carcinoids has also been reported.	Preferred (foundation metadata concept)
A rare inherited cancer-predisposing syndrome characterised by skin lesions, kidney tumours, and pulmonary cysts that may be associated with pneumothorax. The kidney tumours range from benign oncocytomas to malignant renal cell carcinomas including chromophobe, clear cell or papillary subtypes. Fibrofolliculomas are characterised by a circumscribed proliferation of collagen and fibroblasts surrounding distorted hair follicles from which basaloid cells protrude into the surrounding fibromucinous stroma. Other characteristic skin anomalies are trichodiscomas and acrochordons. Dermatological manifestations usually develop in the third and fourth decades of life and persist indefinitely. The syndrome is transmitted in an autosomal dominant fashion.	Preferred (foundation metadata concept)
A rare inherited cancer-predisposing syndrome characterised by the fulfilment of the Amsterdam criteria for hereditary nonpolyposis colorectal cancer (HNPCC) but without alterations, either somatic or germline, in the DNA mismatch repair (MMR) genes.	Preferred (foundation metadata concept)
A rare inherited connective tissue disorder characterised by skin hyperextensibility, widened atrophic scars and generalised joint hypermobility. The disease is caused by heterozygous mutation in the collagen alpha-2(V) gene (COL5A2) on chromosome 2q31.	Preferred (foundation metadata concept)
A rare inherited connective tissue disorder characterised by skin hyperextensibility, widened atrophic scars, and generalised joint hypermobility.	Preferred (foundation metadata concept)
A rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone). It is due to mutations of the /CYP11B2/ (aldosterone synthase) gene and usually presents in infancy as a life-threatening electrolyte imbalance.	Preferred (foundation metadata concept)
A rare inherited disorder due to the ectopic expression of the aldosterone synthase in the fascicular zone of the adrenal gland and marked with early severe hypertension (often occurring before the age of 20), biological signs of primary aldosteronism of variable intensity, and an abnormal elevated level of 18-oxo- and 18-hydroxycortisol.	Preferred (foundation metadata concept)
A rare inherited disorder of leucine metabolism characterised by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.	Preferred (foundation metadata concept)
A rare inherited epidermolysis bullosa (EB) characterised by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.	Preferred (foundation metadata concept)
A rare inherited mitochondrial disease characterised by the clinical features of Leber hereditary optic neuropathy in combination with other systemic or neurological abnormalities. These abnormalities include postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, motor and sensory peripheral neuropathy, spasticity, mild encephalopathy, and cardiac arrhythmias.	Preferred (foundation metadata concept)
A rare inherited rheumatologic disease which causes calcification of articular fibrocartilage or hyaline cartilage, a process termed chondrocalcinosis (CC). It often associates with acute synovitis and osteoarthritis (OA).	Preferred (foundation metadata concept)
A rare inherited skin cancer syndrome characterised by the coexistence of features typical of both multiple self-healing squamous epithelioma and generalised eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces.	Preferred (foundation metadata concept)
A rare intellectual disability syndrome characterised by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992.	Preferred (foundation metadata concept)
A rare intermediate form of open dysraphism between myelomeningocele and saccular limited dorsal myeloschisis without fulfilling the characteristics of one of these two diagnosis, characterised by stretched neurulation of spinal cord attached at the dome of a sac. Partial cerebral signs of open dysraphism can be observed and the meningocele is usually poorly epithelialised.	Preferred (foundation metadata concept)
A rare interstitial lung disease characterised by early-onset, severe, progressive lung disease manifesting by respiratory distress, neurological symptoms including axial hypotonia, developmental delay, irritability, dystonia, poor visual contact and seizures, and variable multisystemic involvement including malabsorption, progressive growth failure, recurrent infections, chronic haemolytic anaemia and liver dysfunction. Kidney dysfunction, cardiac involvement including cardiomegaly and cardiac hypertrophy, decreased vision and strabismus have also been reported. Lung fibrosis may cause death in infancy from respiratory failure.	Preferred (foundation metadata concept)
A rare intestinal disease characterised by a single, focal intestinal perforation, associated with haemorrhagic necrosis, typically occurring at the terminal ileum, involving antimesenteric border. It may also occur in the jejunum or colon. It predominantly affects very (or extremely) low weight infants (birth weight less than 1500 g) mostly in the first week of life. Patients have healthy bowel apart from the perforation site, they present with bluish discolouration and gasless abdomen in the absence of pneumatosis intestinalis. Urinary tract infection can also be present. However, they do not manifest necrotizing enterocolitis, bowel obstruction or prodromal clinical symptoms.	Preferred (foundation metadata concept)
A rare intestinal disease characterised by congenital partial or complete lack of the collagen mesh network in the intestinal wall, resulting in hypoperistalsis or aperistalsis. The enteric nervous system is normal or near-normal in the affected areas, although hypo- and dysganglionosis may be found in some proximal segments of the colon and/or small bowel. Patients present with chronic intractable slow transit constipation.	Preferred (foundation metadata concept)
A rare intestinal disease characterised by impaired absorption of starch and short polymers of glucose due to primary small intestinal glucoamylase deficiency. Patients present in infancy or early childhood with chronic diarrhoea, abdominal distention, and bloating. Levels of pancreatic amylase are typically normal, and histopathological analysis shows normal morphology of the intestinal mucosa.	Preferred (foundation metadata concept)
A rare intestinal disorder characterised by the inability to control the passage of rectal contents (faeces, gas) through the anus following ileal pouch-anal anastomosis surgery. Faecal incontinence is usually more frequent during the night than during daytime. The condition generally worsens over time, with a significant negative impact on the quality of life of the patient.	Preferred (foundation metadata concept)
A rare isolated constitutional thrombocytopenia characterised by abnormally large platelets.	Preferred (foundation metadata concept)
A rare isolated constitutional thrombocytopenia characterised by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections.	Preferred (foundation metadata concept)
A rare isolated constitutional thrombocytopenia characterised by reduced platelet count and defective platelet ATP secretion, resulting in increased bleeding tendency. Clinical manifestations are easy bruising, gum bleeding, menorrhagia, spontaneous epistaxis, spontaneous muscle haematoma, and potential postpartum haemorrhage, among others.	Preferred (foundation metadata concept)
A rare isolated diffuse palmoplantar keratoderma characterised by diffuse, homogeneous, mild to thick, brown-to-yellowish palmoplantar hyperkeratosis (sometimes spreading over the dorsal aspect of fingers). Skin biopsy shows non-epidermolytic changes. There are no changes in hair, teeth or nails, and no syndromic involvement of other organs.	Preferred (foundation metadata concept)
A rare isolated dystonia characterised by segmental dystonia that predominantly affects the distal limbs and leads to abnormal posture. This disease has a progressive clinical course and may develop into generalised dystonia but remains mild overall.	Preferred (foundation metadata concept)
A rare isolated hereditary giant platelet disorder characterised by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestation are recurrent bleeding episodes including epistaxis, spontaneous haematoma, and menorrhagia.	Preferred (foundation metadata concept)
A rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognathism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992.	Preferred (foundation metadata concept)
A rare juvenile idiopathic inflammatory myopathy characterised by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localised scleroderma, diabetes). Cardiac involvement has been reported in some patients.	Preferred (foundation metadata concept)
A rare late-onset neurodegenerative disease characterised by ocular motor dysfunction, postural instability, akinesia-rigidity, and cognitive dysfunction.	Preferred (foundation metadata concept)
A rare lethal bone dysplasia characterised at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description in the literature since 1988.	Preferred (foundation metadata concept)
A rare lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). There have been no further descriptions in the literature since 1963.	Preferred (foundation metadata concept)
A rare lethal multiple congenital anomalies/dysmorphic syndrome characterised by the association of fetal akinesia sequence, bilateral microphthalmia, microtia, and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported.	Preferred (foundation metadata concept)
A rare leucodystrophy characterised by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia, and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy, and diffuse spinal cord volume loss.	Preferred (foundation metadata concept)
A rare leucodystrophy characterised by congenital thickened, wrinkled skin showing loss of elasticity, in combination with childhood onset of rapidly progressive generalised cognitive and motor impairment quickly resulting in a vegetative state and early death. Neuropathologic examination reveals neuroaxonal leucodystrophy with numerous neuroaxonal spheroids and diffuse loss of axons and myelin sheaths.	Preferred (foundation metadata concept)
A rare leucodystrophy characterised by infantile onset of lower limb spasticity and severe developmental delay associated with delayed myelination and periventricular white matter abnormalities. Other reported signs and symptoms include microcephaly, optic atrophy, nystagmus, ataxia, or seizures.	Preferred (foundation metadata concept)
A rare leucoencephalopathy characterised by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability.	Preferred (foundation metadata concept)
A rare life threatening disorder characterised by infection of the submucosal and muscular layers of the gastrointestinal tract.	Preferred (foundation metadata concept)
A rare limbic encephalitis characterised by the presence of autoantibodies against NMDA receptors in serum and cerebrospinal fluid. It may be of paraneoplastic (most commonly associated with ovarian teratoma) or non-paraneoplastic origin and is life-threatening but potentially treatable. Patients present with acute behavioural change, psychosis, and catatonia, rapidly progressing to seizures, memory deficit, dyskinesias, speech problems, and autonomic and breathing dysregulation.	Preferred (foundation metadata concept)
A rare localised lipodystrophy characterised by the appearance of asymptomatic, well-demarcated, variably sized, depressed, lipoatrophic lesions secondary to subcutaneous, intradermic or intramuscular drug injection, including corticosteroids, insulin, human growth hormone and antibiotics. Skin colouration may vary from white or hypopigmented to reddish, pinkish or violaceous. Epidermal atrophy may be also present.	Preferred (foundation metadata concept)
A rare lymphatic system anomaly characterised by multifocal congenital and progressive vascular lesions of the skin, gastrointestinal tract, and occasionally other anatomic sites, causing potentially life-threatening thrombocytopenic coagulopathy. Macroscopically, the lesions appear as round to oval, red-brown plaques, as large as a few centimetres in diameter. Histopathologically, they consist of dilated, thin-walled vessels with variable endothelial hyperplasia, positive for lymphatic endothelial cell markers, and resembling benign lymphangioendothelioma.	Preferred (foundation metadata concept)
A rare lymphoma characterised by the concurrent occurrence of two or more histologic types of lymphoma involving the same anatomic site. Composite lymphomas can be combinations of two non-Hodgkin lymphomas or of a non-Hodgkin and a Hodgkin lymphoma. In many cases, the tumours are clonally related. Clinical presentation and treatment are determined by the more aggressive component.	Preferred (foundation metadata concept)
A rare lysosomal storage disease characterised by lysosomal accumulation of glycogen particularly in skeletal, cardiac, and respiratory muscles, as well as the liver and nervous system, due to acid maltase deficiency. The clinical spectrum comprises infantile-onset disease with severe hypertrophic cardiomyopathy, generalised muscle weakness, poor feeding and failure to thrive, and respiratory insufficiency, and late-onset disease manifesting before or after twelve months of age without cardiomyopathy, with proximal muscle weakness and respiratory insufficiency.	Preferred (foundation metadata concept)
A rare lysosomal storage disease characterised by widespread tissue buildup of glycolipids and oligosaccharides rich in fucose. Patients present with broad clinical characteristics such as intellectual disability, developmental delay associated with psychomotor regression and bone abnormalities, visceromegaly, hyperhidrosis, and dermatological abnormalities.	Preferred (foundation metadata concept)
A rare lysosomal storage disease characterised clinically by severe global development delay due to neuronal dysmyelination, hypotonia which gradually progresses to spasticity during childhood, speech deficits, progressive visual impairment (due to corneal clouding, retinal degeneration and optic atrophy), achlorhydria, with increased gastrin secretion and iron deficiency anaemia, and kidney disease and failure, all in the absence of dysmorphic features.	Preferred (foundation metadata concept)
A rare macular disorder characterised mostly by a variable degree of decreased visual acuity, jerk or pendular nystagmus, and typical ocular findings at imaging. The disease is usually bilateral. Rarely, nystagmus can be absent. Locally, the disease is characterised by underdeveloped foveal pit, absence of foveal pigmentation and/or foveal avascular zone, and persistence of inner retinal layers at the fovea, in absence of concomitant ocular or systemic pathology.	Preferred (foundation metadata concept)
A rare malformation disorder characterised by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay.	Preferred (foundation metadata concept)
A rare malformation syndrome characterised by generalised multiple steatocystomas and natal teeth.	Preferred (foundation metadata concept)
A rare malformation syndrome characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.	Preferred (foundation metadata concept)
A rare malformation syndrome that is characterised by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants.	Preferred (foundation metadata concept)
A rare malformative syndrome with dentinogenesis imperfecta, characterised by dentin dysplasia with opalescent discolouration and severe attrition of primary and permanent teeth, and delayed eruption, bulbous crowns, long and tapered roots, and progressive root canal obliteration of the permanent dentition, associated with proportionate short stature, sensorineural hearing loss, mild intellectual disability, and dysmorphic facial features. The latter include a prominent nose with high nasal bridge and short philtrum. Osteoporosis, mild platyspondyly, and cone-shaped epiphyses have also been reported.	Preferred (foundation metadata concept)
A rare malignant primary thymic neoplasm originating from neuroendocrine cells presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath or in some cases superior vena cava syndrome. Patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid syndrome respectively.	Preferred (foundation metadata concept)
A rare malignant sex cord stromal tumour of ovary occurring typically in young women and characterised by manifestations of androgen excess (hirsutism, hair loss, amenorrhoea, or oligomenorrhoea), when functional.	Preferred (foundation metadata concept)
A rare mandibulofacial dysostosis characterised by the association with scalp alopecia and sparse eyebrows and eyelashes. Craniofacial dysmorphic features include zygomatic and mandibular dysplasia or hypoplasia, cleft palate, micrognathia, dental anomalies, auricular dysmorphism, and eyelid anomalies, among others. Patients may experience limited jaw mobility, glossoptosis, upper airway obstruction, and conductive hearing loss.	Preferred (foundation metadata concept)
A rare maternal disease-related embryofetopathy characterised by variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, encephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (e.g., bifid uvula, preauricular pit or tag). Consensus regarding cause-effect relationship has not been reached.	Preferred (foundation metadata concept)
A rare median facial cleft characterised by median cleft of the lower lip (ranging in extent from a notch in the vermilion to a complete cleft involving the tongue, lower lip, and chin, and extending to the cervical region), median cleft of the mandible (ranging from notching to a complete cleft), and anomaly of the tongue including bifid tongue and tongue tie. Associated features in severe cases may include absent hyoid, thyroid cartilage, and manubrium sterni, as well as atrophic neck muscles.	Preferred (foundation metadata concept)
A rare mesomelic and rhizo-mesomelic dysplasia with characteristics of marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due to mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures.	Preferred (foundation metadata concept)
A rare metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD). This condition usually presents in early childhood and the manifestations are variable. The disease is caused by mutations in the malonyl-CoA decarboxylase gene (MLYCD, chromosome 16q24) and is inherited as an autosomal recessive trait. The MCD enzyme is involved in the degradation of malonyl-CoA and it appears that inhibition of fatty acid synthesis as a result of malonyl-CoA accumulation is responsible for at least some of the clinical manifestations of the disorder.	Preferred (foundation metadata concept)
A rare metabolic liver disease characterised by progressive liver disease and early cirrhosis due to accumulation of toxic cholesterol metabolites, which are detectable in bile, plasma, and urine, in association with dental abnormalities such as general hypomineralisation and enamel hypoplasia, as well as occurrence of supernumerary teeth. There have been no further descriptions in the literature since 1996.	Preferred (foundation metadata concept)
A rare metabolic myopathy characterised by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997.	Preferred (foundation metadata concept)
A rare metabolic myopathy presenting during childhood, and characterised clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.	Preferred (foundation metadata concept)
A rare midline cerebral malformation characterised by duplicated pituitary stalks and/or glands within duplicated sella. Patients may present various degrees of facial dysmorphism and endocrine abnormalities, including precocious puberty, hypogonadism, hypothyroidism and/or hyperprolactinaemia, as well as associated congenital anomalies, such as clift lip/palate, bifid nasal bridge/tongue/uvula, hypothalamic enlargement with or without hamartoma, nasopharyngeal tumours, corpus callosum agenesis/hypoplasia, basilar artery duplication, and/or vertebral defects (in particular, duplication of the odontoid process).	Preferred (foundation metadata concept)
A rare mild form of galactosaemia characterised by early onset of cataract and an absence of the usual signs of classic galactosaemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.	Preferred (foundation metadata concept)
A rare mitochondrial DNA depletion syndrome characterised by congenital or early-onset lactic acidosis, hypotonia, and severe global developmental delay with feeding difficulties and failure to thrive. It is frequently associated with variable dysmorphic facial features. Additional manifestations include seizures, movement disorders, and cardiac and ophthalmologic anomalies, among others. Brain imaging may show generalised atrophy and white matter abnormalities.	Preferred (foundation metadata concept)
A rare mitochondrial DNA depletion syndrome characterised by muscle weakness, and progressive, generalised hypotonia due to depletion of mtDNA in skeletal muscles. Clinical progression ranges from rapid and early fatal course due to respiratory failure, to slowly progressive myopathy over the course of childhood or even early adulthood.	Preferred (foundation metadata concept)
A rare mitochondrial DNA depletion syndrome characterised by neonatal or infantile onset of global developmental delay, hypotonia, failure to thrive, progressive neurologic decline, sensorineural deafness, and movement disorder. Seizures, external ophthalmoplegia, polyneuropathy, cardiomyopathy, and renal tubular dysfunction have also been reported. Brain imaging may show T2-weighted hyperintensities in the basal ganglia, and laboratory examination may reveal lactic acidosis and mild methylmalonic aciduria.	Preferred (foundation metadata concept)
A rare mitochondrial DNA depletion syndrome characterised by neonatal or infantile onset of hypotonia, failure to thrive, global developmental delay, and persistent lactic acidosis. The disease course is variable and ranges from intractable diarrhoea and respiratory failure with fatal outcome in early infancy to a milder phenotype with survival into childhood. Additional reported features include sensorineural hearing loss, microcephaly, seizures, pigmentary retinopathy, and renal tubulopathy.	Preferred (foundation metadata concept)
A rare mitochondrial disease characterised by a distinctive MRI pattern of cavitating leucodystrophy, predominantly in the posterior region of the cerebral hemispheres. The clinical picture varies widely between acute neurometabolic decompensation in infancy with loss of developmental milestones, seizures, and pyramidal signs rapidly evolving into spastic tetraparesis, to subtle neurological symptoms presenting in adolescence. The disease course tends to stabilise over time in most patients, and marked recovery of milestones may be observed.	Preferred (foundation metadata concept)
A rare mitochondrial disease characterised by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia, and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging.	Preferred (foundation metadata concept)
A rare mitochondrial disease characterised by a variable clinical phenotype ranging from fetal hydrops and postnatal hypotonia, bradycardia, and respiratory failure, resulting in death in the neonatal period, to infantile onset of episodes of acute cardiopulmonary failure associated with severe lactic acidosis, and slowly progressive muscle weakness. Muscle biopsy shows reduced activity of mitochondrial complexes I, III, and IV.	Preferred (foundation metadata concept)
A rare mitochondrial disease characterised by a variable clinical phenotype with the core features of optic atrophy, ataxia, and hypotonia. Additional common manifestations include global developmental delay with or without regression, neuropathy, spasticity, and microcephaly, less frequently seizures, movement disorder, hearing loss, and respiratory failure. Brain imaging may show abnormalities of the corpus callosum, basal ganglia, and midbrain, cerebral or cerebellar atrophy, or white matter abnormalities. The condition is frequently fatal at an early age.	Preferred (foundation metadata concept)
A rare mitochondrial disease characterised by a variable phenotype comprising congenital sensorineural deafness, intermittent or persistent hypoglycaemia, and hepatic and renal dysfunction potentially progressing to organ failure. Serum lactate levels are variably increased, deficiency of mitochondrial respiratory chain complexes I, III, and IV is observed in the liver and in fibroblasts.	Preferred (foundation metadata concept)
A rare mitochondrial disease characterised by a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy, among others. Age of onset and disease severity are also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy, and white matter abnormalities.	Preferred (foundation metadata concept)
A rare mitochondrial disease characterised by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.	Preferred (foundation metadata concept)
A rare mitochondrial disease characterised by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions.	Preferred (foundation metadata concept)
A rare mitochondrial disease characterised by bilateral auditory neuropathy and optic atrophy. Patients present hearing and visual impairment in the first or second decade of life, while psychomotor development is normal. Bilateral retinitis pigmentosa has been reported in association.	Preferred (foundation metadata concept)
A rare mitochondrial disease characterised by early infantile onset of progressive neurological deterioration with seizures, spasticity, and lack of psychomotor development. Brain imaging shows severe leucodystrophy and abnormalities of neuronal migration. Lactic acidosis is common. The disease is usually fatal in early childhood.	Preferred (foundation metadata concept)
A rare mitochondrial disease characterised by early onset of hypertrophic cardiomyopathy and variable neurologic symptoms including global developmental delay, hypotonia, intellectual disability, visual impairment, and seizures. Lactic acidosis is present in all patients. Muscle biopsy usually shows decreased activity of mitochondrial complexes I and IV. Brain imaging may reveal variable abnormal signal intensities in the thalamus, basal ganglia, and/or brain stem.	Preferred (foundation metadata concept)
A rare mitochondrial disease characterised by failure to thrive, infantile encephalopathy, muscular hypotonia, global developmental delay and regression, pulmonary arterial hypertension, episodes of apnoea and bradycardia, respiratory failure, hyperglycinaemia, and lactic acidosis. Hypertrophic or dilated cardiomyopathy have also been reported. Brain imaging may show leucoencephalopathy involving variable regions. The disease is typically fatal in early infancy.	Preferred (foundation metadata concept)
A rare mitochondrial disease characterised by infantile onset of severe regression after a period of normal development, epileptic encephalopathy, hypotonia, movement disorder, cardiomyopathy, hyperglycinaemia, and lactic acidosis. Optic atrophy may also be present. Brain imaging findings are highly variable and include white matter abnormalities. The disease is typically fatal in infancy.	Preferred (foundation metadata concept)
A rare mitochondrial disease characterised by neonatal onset of severe cardiac and/or neurologic signs and symptoms mostly associated with a fatal outcome in the neonatal period or in infancy, although a milder phenotype with later onset and slowly progressive neurologic deterioration has also been reported. Clinical manifestations are variable and include respiratory insufficiency, hypotonia, cardiomyopathy, and seizures. Serum lactate is elevated in most cases. Brain imaging may show cerebellar atrophy or hypoplasia.	Preferred (foundation metadata concept)
A rare mitochondrial disease characterised by onset of episodic developmental regression in the first year of life, often in the setting of febrile illnesses, as well as hypotonia and seizures or refractory epileptic encephalopathy. Other observed features include ataxia, dystonia, or optic atrophy, among others. Patients do not achieve independent ambulation or meaningful speech. Brain imaging may show progressive cerebellar or diffuse atrophy and signal abnormalities of the basal ganglia. Serum lactate is often elevated.	Preferred (foundation metadata concept)
A rare mitochondrial disease characterised by prenatal complications including oligohydramnios, fetal growth restriction, hydrops, and anaemia, followed by severe lactic acidosis, hyaline membrane disease, pulmonary hypertension, cardiac anomalies, liver dysfunction, urogenital abnormalities and progressive renal disease, seizures, thrombocytopenia, and sideroblastic anaemia resulting in multisystem organ failure and death shortly after birth. Less severely affected patients surviving the neonatal period and showing sensorineural hearing loss and developmental delay have been reported.	Preferred (foundation metadata concept)
A rare mitochondrial disease characterised by prenatal or early infantile onset of severe cardiomyopathy, failure to thrive and global developmental delay, sensorineural hearing loss, and severe lactic acidosis. Hepatic involvement and adrenal insufficiency, as well as encephalopathy and anomalies of deep grey matter structures on brain MRI have also been reported.	Preferred (foundation metadata concept)
A rare mitochondrial disease characterised by signs and symptoms within a phenotypic and metabolic spectrum that includes global developmental delay, hypotonia, intellectual disability, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy, lactic acidosis, and increased excretion of Krebs cycle intermediates. Other variable features are spasticity, seizures, ataxia, congenital cataract, and dysmorphic facial features. Age of onset is in the neonatal period or infancy.	Preferred (foundation metadata concept)
A rare mitochondrial disease that has a heterogeneous clinical presentation characterised by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external ophthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.	Preferred (foundation metadata concept)
A rare mitochondrial disorder characterised by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxisomal defects, however, have been reported. Transmission is thought to be autosomal recessive.	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)