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 urogenital tract malformation characterised by the complete absence of the scrotal rugae in the perineum between the penis and anus, with bilateral testes being present in a cryptorchid or ectopic position. Hemiscrotal agenesis refers to the unilateral absence of scrotal skin with an intact midline raphe and ipsilateral cryptorchidism. Both malformations may be isolated findings, or occur in association with other anomalies.	Preferred (foundation metadata concept)
A rare urogenital tumour characterised by stromal and epithelial components forming cysts lined by hyperplastic epithelium in a cellular or sarcomatoid stroma. The tumours may be clinically benign or malignant and tend to recur after transurethral resection. Metastatic spread is to lungs, bone, and liver. Patients may present with obstructive voiding symptoms, dysuria, haematuria, urinary retention, or a palpable abdominal mass. The prostate is palpably enlarged but feels soft and spongy.	Preferred (foundation metadata concept)
A rare variant of Guillain-Barré syndrome characterised by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and neuropathic pain.	Preferred (foundation metadata concept)
A rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterised by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death.	Preferred (foundation metadata concept)
A rare variant of cutaneous lichen planus characterised by both annular and atrophic LP features in the same lesion.	Preferred (foundation metadata concept)
A rare vascular anomaly characterised by absence of the hepatic segment of the inferior vena cava and presence of an enlarged azygos vein (or in rare cases hemiazygos vein, if there is a left-sided inferior vena cava) draining the venous blood from the caudal segments. The post-hepatic segment of the inferior vena cava is present, draining only the hepatic veins into the right atrium. Most patients remain asymptomatic, if the anomaly is isolated. Association with congenital heart disease and asplenia or polysplenia syndromes has been reported.	Preferred (foundation metadata concept)
A rare vascular anomaly characterised by the association of capillary and venous malformations with hypotrophy or shortening of an affected limb due to alterations in bones, muscles, or subcutaneous tissues. In most cases, at least one of the findings is noted shortly after birth, while the other components become evident later in infancy.	Preferred (foundation metadata concept)
A rare vascular anomaly or angioma characterised by multifocal malformed lymphatic channels lined by clusters or sheets of spindled lymphatic endothelial cells with a predilection for the thoracic cavity, but also involving extra-thoracic locations, especially bones and spleen. Typical clinical signs and symptoms are pericardial and pleural effusions, cough, dyspnoea, bleeding, and fractures secondary to bone involvement. Prognosis is generally poor due to the progressive nature of the condition.	Preferred (foundation metadata concept)
A rare vascular anomaly or angioma characterised by the presence of small, multifocal bluish-purple venous lesions mainly involving the skin.	Preferred (foundation metadata concept)
A rare vascular condition characterised by the sudden blockage of an artery supplying blood to the limbs by a blood clot, causing acute limb ischaemia. The clinical presentation is variable and depends on the time course of vessel occlusion, the presence of an underlying vascular disease, and the recruitment of collateral circulation. Symptoms can develop over a period of hours to days and typically include limb pain, pallor, absent pulse, poikilothermia, paraesthesia, and limb paralysis. The condition can quickly progress to infarction and loss of the limb.	Preferred (foundation metadata concept)
A rare vascular disease characterised by idiopathic detachment of the layers of the walls of coronary arteries, creating a false lumen which limits the main coronary flow, leading to myocardial ischaemia. Clinical manifestations include acute coronary syndromes, especially ST-segment elevation myocardial infarction (STEMI), syncope, cardiogenic shock, or sudden cardiac death. The condition typically affects young women.	Preferred (foundation metadata concept)
A rare vascular liver disease characterised by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava.	Preferred (foundation metadata concept)
A rare vascular liver disease characterised by the absence of cirrhosis with or without portal hypertension and histological lesions involving portal venules or sinusoids. Patients may present either with specific clinical signs of portal hypertension (including gastric oesophageal or ectopic varices, portal hypertensive bleeding or porto-systemic collaterals at imaging) or a histological lesion specific to porto sinusoidal vascular disease (including obliterative portal venopathy, nodular regenerative hyperplasmia or incomplete septal fibrosis or cirrhosis) or they may manifest clinical signs that are not specific to portal hypertension (such as ascites, platelet count <150.000/µl, increased spleen size ≥13 cm in the largest axis) together with a histological lesion including portal tract abnormalities, irregular distribution of the portal tracts and central veins, non-zonal sinusoidal dilation, mild perisinusoidal fibrosis. Possible associations with altered immunity, haematological diseases and prothrombotic conditions, infections, congenital or familial defects, or drug exposure are reported.	Preferred (foundation metadata concept)
A rare vascular liver disease characterised by widespread or focal cystic dilatation of sinusoidal blood-filled spaces of the liver without any known cause. Lesions can vary in diameter between few millimetres and several centimetres. The condition may remain asymptomatic or manifest with complications including rupture and intraperitoneal haemorrhage, hepatomegaly, portal hypertension, cholestasis, and liver failure.	Preferred (foundation metadata concept)
A rare vascular skin disease with characteristics of recurrent focal non-inflammatory thrombosis of dermal venulae, predominantly of the lower extremities, resulting in a cutaneous response manifested as pruritus and painful papules and erythematous plaques. The lesions evolve into haemorrhagic vesicles or bullae, which rupture and turn into painful ulcers merging into reticulate, confluent, geometric and painful ulcerations. During a period of a few months, the ulcerations change to porcelain-white atrophic scars with punctate telangiectasia (so-called atrophie blanche). In active disease, lesions in different stages coexist.	Preferred (foundation metadata concept)
A rare vascular tumour characterised by an ill-defined, slowly growing, asymptomatic cutaneous plaque or nodule mostly involving the limbs, in fewer cases the trunk. The tumour is composed of lymphatic-like channels with prominent intraluminal papillary tufts with hyaline cores lined by hobnail endothelial cells. It is locally aggressive, while metastasis is rare. Infants and children are much more often affected than adults.	Preferred (foundation metadata concept)
A rare vasculitis characterised by mostly unilateral inflammation of the temporal artery affecting patients up to fifty years of age. Patients typically present with a lump in the temporal region or a prominent temporal artery and often have headaches. Males are more frequently affected than females, and major systemic symptoms, ocular complications, and a biological inflammatory syndrome are usually absent, although peripheral blood eosinophilia may be seen. Histopathological analysis shows arteritis predominantly of the intima with possible extension to the perivascular tissue. The presence of granuloma, giant cells or fibrinoid necrosis is rare. Clinical relapses after one episode are uncommon.	Preferred (foundation metadata concept)
A rare very aggressive neuroendocrine neoplasm with the presence of nodular mass(es) arising from the neck, fundus or body of the gallbladder or by diffuse thickening of the gallbladder wall. Patients may be asymptomatic (diagnosed incidentally after surgical resection of the gallbladder) or may present epigastric pain, abdominal mass and/or non-specific symptoms, such as nausea, jaundice, flushing, cough, wheezing, ascites. Paraneoplastic syndromes such as Cushing syndrome, acanthosis nigricans, bullous pemphigoid, dermatomyositis and the Leser-Trelat sign may be associated.	Preferred (foundation metadata concept)
A rare viral disease characterised by invasive and/or disseminated adenovirus infection in immunocompromised patients, either acquired de novo or arising from reactivation of persistent latent infection. The clinical picture comprises a wide range of manifestations including pneumonia, colitis, hepatitis, haemorrhagic cystitis, tubulointerstitial nephritis, encephalitis, and disseminated disease, among others. Severity varies with age and immune status, and life-threatening courses may occur.	Preferred (foundation metadata concept)
A rare, X-linked leucodystrophy characterised primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.	Preferred (foundation metadata concept)
A rare, X-linked syndromic intellectual disability disorder characterised by mild to moderate intellectual disability, obesity, hypogonadism, tapering fingers and microphallus with small or undescended testes, localised to Xp11.3-Xq23. Additional variable manifestations include alopecia, dental and eyesight anomalies, speech disabilities, and decreased body strength.	Preferred (foundation metadata concept)
A rare, X-linked syndromic intellectual disability disorder characterised by non-progressive ataxia, apraxia, variable intellectual disability and/or visuospatial, visuographic and visuoconstructive dysfunctions in male patients. Seizures, congenital clubfoot and macroorchidism have also been associated. Partial clinical expression was noted in obligate female carriers. There have been no further descriptions in the literature since 1992.	Preferred (foundation metadata concept)
A rare, X-linked syndromic intellectual disability disorder characterised by severe intellectual disability, psychomotor developmental delay, generalised seizures, and psoriasis. Mild craniofacial dysmorphism, such as hypertelorism, broad nasal bridge, anteverted nares, macrostomia, highly arched palate and large ears, is also associated. There have been no further descriptions in the literature since 1988.	Preferred (foundation metadata concept)
A rare, X-linked, multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome characterised by developmental delay, mild to moderate intellectual disability, speech disturbance, behavioural problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures, and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces.	Preferred (foundation metadata concept)
A rare, X-linked, syndromic intellectual disability disease characterised by neonatal hypertonia which evolves to hypotonia and an exaggerated startle response (to sudden visual, auditory or tactile stimuli), followed by the development of early-onset, frequently refractory, tonic or myoclonic seizures. Progressive epileptic encephalopathy, intellectual disability, and psychomotor development arrest, with subsequent decline, may be additionally associated.	Preferred (foundation metadata concept)
A rare, acquired immunodeficiency disease characterised by adult-onset absolute neutrophil counts less than 1.5 x 10^9/L on at least 3 occasions in a 3 month period that cannot be attributable to drugs or a specific genetic, infectious, inflammatory, autoimmune or malignant cause. Recurrent apthous stomatitis and a history of mild bacterial infections are typically associated. A benign outcome with a low rate of severe infections and no secondary malignancies is observed.	Preferred (foundation metadata concept)
A rare, acquired motor neuron disease characterised by a slowly progressive, unilateral, ascending or descending hemiplegia, associated to unilateral or asymmetrical pyramidal signs and no sensory loss. It is a diagnosis of exclusion and controversy exists regarding whether the presence of bulbar symptoms, sphincter disturbances, fasciculations or cognitive manifestations characterise the disease.	Preferred (foundation metadata concept)
A rare, acquired peripheral neuropathy characterised by symptoms arising from combined overactivity in cranial nerves, without any explanatory structural lesion. The symptoms may be unilateral or bilateral, may occur synchronously or metachronously, and include trigeminal neuralgia, hemifacial spasm and glossopharyngeal neuralgia.	Preferred (foundation metadata concept)
A rare, acquired pituitary hormone deficiency characterised by combination of headache, visual field defects that correlate with cyst size, and pituitary dysfunction. Most frequent hormonal manifestations are hypogonadism with amenorrhoea/impotence or low libido and galactorrhoea.	Preferred (foundation metadata concept)
A rare, acquired pituitary hormone deficiency characterised by inflammation of the pituitary gland secondary to immunotherapy for cancer treatments (such as monoclonal antibodies against cytotoxic T lymphocytes antigen, programmed cell death protein-1, and programmed cell death ligand molecules). Major clinical features include headache, fatigue, adrenal insufficiency and hypothyroidism. Patients may also have nausea and vomiting associated to the headache as well as dizziness and hot flashes. Enlargement of the pituitary gland is present in the brain imaging.	Preferred (foundation metadata concept)
A rare, acquired pituitary hormone deficiency, a type of primary hypophysitis characterised by an inflammation of anterior pituitary. Clinical presentation is variable and includes headaches, visual disturbances, symptoms of adrenal insufficiency, hyperprolactinaemia, hypothyroidism and hypogonadism. It most commonly affects young women during pregnancy or postpartum period.	Preferred (foundation metadata concept)
A rare, acquired retinal disorder characterised by transient or permanent visual impairment accompanied by the presence of reddish-brown, wedge-shaped lesions in the macula, the apices of which tend to point towards the fovea. The lesions usually appear in a petaloid or tear-drop configuration. Patients tend to be young, Caucasian, and female.	Preferred (foundation metadata concept)
A rare, acquired retinal disorder characterised by unilateral, acute onset, rapidly progressive visual field loss. Sometimes patients have photopsia and complain of floaters. Typical ophthalmoscopic finding is a unilateral, yellowish-white annular intraretinal line, splitting the retinal field to affected outer retina with thinning, and normal retina. Gradual spontaneous visual recovery has been observed.	Preferred (foundation metadata concept)
A rare, acquired skin disease characterised by excessive mucin deposition and thickened collagen bundles in the dermis, resulting in woody, non-pitting induration of the skin of the neck, spreading to the shoulders and upper trunk, but sparing hands and feet. According to the association with preceding or underlying conditions, three types can be distinguished: type 1 usually follows a febrile infection, type 2 is associated with paraproteinaemia, and type 3 occurs in patients with diabetes mellitus. Especially in types 2 and 3, extracutaneous involvement may be present. Other potentially associated conditions include a variety of endocrinopathies, systemic diseases, and neoplasms.	Preferred (foundation metadata concept)
A rare, acquired, demyelinating neuropathy disease characterised by acute, symmetric, monophasic sensory neuropathy without motor involvement, typically manifesting with numbness in the distal lower limbs which progressively extends to all the limb, tingling sensation in the distal lower limbs, generalised areflexia, and unsteady gait, as well as clumsiness of the upper limbs, pseudoathetosis and loss of vibration sense.	Preferred (foundation metadata concept)
A rare, acquired, dermis elastic tissue disorder characterised by multiple, asymptomatic, firm, well-demarcated, nonfollicular, hypopigmented or skin-coloured papules, with a diameter of less than 1 cm, distributed symmetrically over trunk and/or proximal limbs (rarely, head, neck, shoulders, armpits, thighs), with no extracutaneous manifestations. Histopathology typically reveals decreased and fragmented elastic fibres, thickened and/or homogenised collagen bundles and, in some, a mild, perivascular, lymphocytic infiltrate in the dermis.	Preferred (foundation metadata concept)
A rare, acquired, dermis elastic tissue disorder with decreased elastic tissue characterised by multiple, asymptomatic, well demarcated, flat, hypopigmented atrophic macular skin lesions distributed over upper trunk and proximal upper limbs. Histopathological examination reveals atrophic epidermis with decreased basal pigmentation, perivascular mononuclear infiltration in the upper dermis, and disorganised, hyalinised, coarse collagen bundles, and variable loss of elastic fibres in the dermis.	Preferred (foundation metadata concept)
A rare, acquired, subepidermal autoimmune bullous disease characterised by polymorphic cutaneous lesions (blisters, urticarial lesions or scars/milia) associated with immunoglobulin G deposition in the basement membrane zone. Lesions are frequently localised on extremities, trunk, palmoplantar and cephalic areas as well as mucous membranes.	Preferred (foundation metadata concept)
A rare, aggressive and malignant hepatic tumour arising from the hepatocytes. It develops mainly in children over 10 years of age, either in a cirrhotic background, or more commonly in a non-cirrhotic background (70% of cases).	Preferred (foundation metadata concept)
A rare, aggressive form of advanced systemic mastocytosis (advSM) characterised by massive infiltration of mast cells (MC) in different tissues and presence of extracutaneous organ dysfunction, but without evidence of mast cell leukaemia or another haematologic neoplasm.	Preferred (foundation metadata concept)
A rare, aggressive, neoplastic disease characterised by the presence of a melanocyte tumour that develops in any mucosal membrane. Clinical manifestations vary depending on the site of occurrence.	Preferred (foundation metadata concept)
A rare, autosomal dominant cerebellar ataxia characterised by pure and slowly progressive cerebellar signs combining gait instability, dysarthria, nystagmus, saccadic eye movements and diplopia. Less frequent clinical signs and symptoms include spasticity, hyperreflexia, decreased distal vibration sense, urinary urgency or incontinence and postural tremor.	Preferred (foundation metadata concept)
A rare, autosomal dominant congenital myopathy characterised by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy (hypotonia, distal/proximal muscle weakness, rib cage deformities sometimes associated with respiratory insufficiency), ptosis, ophthalmoparesis and weakness of the muscles of facial expression with dysmorphic facial features.	Preferred (foundation metadata concept)
A rare, autosomal dominant neurological disorder due to truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid. Onset is usually in the fourth decade of life and reported clinical manifestations include diarrhoea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections.	Preferred (foundation metadata concept)
A rare, autosomal dominant, eye disorder representing a constellation of inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia.	Preferred (foundation metadata concept)
A rare, autosomal recessive congenital cerebellar ataxia characterised by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.	Preferred (foundation metadata concept)
A rare, autosomal recessive, congenital, cerebellar ataxia disorder characterised by hypotonia from birth, marked psychomotor delay and prominent cerebellar dysfunction (manifesting with nystagmus, intention tremor, dysarthria, ataxic gait and truncal ataxia), described in an isolated population of the Grand Cayman Island. Cerebellar hypoplasia, observed on CT scan, may be associated.	Preferred (foundation metadata concept)
A rare, autosomal recessive, multiple congenital anomalies/dysmorphic syndrome characterised mainly by developmental delay, variable intellectual disability, microcephaly, cerebellar hypoplasia, dysmorphic features (central incisors macrodontia and slender fingers), short stature and variable congenital anomalies.	Preferred (foundation metadata concept)
A rare, autosomal recessive, syndromic intellectual disability disorder characterised by global development delay, mild microcephaly, mild to severe intellectual disability and non-specific facial dysmorphism in association with variable multiple congenital anomalies including congenital heart defects, dental anomalies, cryptorchidism, renal and cerebral malformations. Short stature is frequent.	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 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 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, 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 endokeratinisation in the deep portion and concentrically arranged nests of prekeratogenous and keratogenous cells.	Preferred (foundation metadata concept)
A rare, brain inflammatory disease characterised by thickening of the dura mater of the cranium or spine with at least two histopathological features of IgG4-related disease: dense lymphoplasmacytic infiltrate, storiform fibrosis, and/or obliterative phlebitis. Patients typically have non-specific CSF 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, capillary-venous malformations characterised by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral haemorrhages.	Preferred (foundation metadata concept)
A rare, central nervous system malformation characterised by 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 sometimes reported.	Preferred (foundation metadata concept)
A rare, chromosomal anomaly characterised by variable clinical features that may include developmental delay, mild intellectual disability and dysmorphic facial features. In some cases, microcephaly, growth retardation and congenital heart defects have been reported.	Preferred (foundation metadata concept)
A rare, closed spinal dysraphism with characteristics of a myelocystocele at the termination of the spinal cord. It may be an isolated anomaly or be associated with other defects, including sacral agenesis, anorectal and genitourinary anomalies. The conus is not identifiable. The myelocystocele sac may have a significant lipomatous component (terminal lipomyelocystocele).	Preferred (foundation metadata concept)
A rare, combined T and B cell immunodeficiency characterised by childhood onset of recurrent bacterial and varicella zoster virus infections. Eczema and recurrent molluscum have also been reported. Laboratory studies reveal profound and persistent lymphopenia, hypogammaglobulinaemia, poor immune response to vaccine antigens, and fluctuating neutropenia.	Preferred (foundation metadata concept)
A rare, combined T and B cell immunodeficiency characterised by early-onset of recurrent severe bacterial, viral, and fungal infections. Many patients present failure to thrive. Occurrence of lymphoma, as well as neurologic features, have been reported in some cases. Laboratory examination shows decreased CD4+ T cells and variable B cell lymphopenia and hypogammaglobulinaemia.	Preferred (foundation metadata concept)
A rare, combined T- and B-cell immunodeficiency characterised by failure to thrive, severe diarrhoea, opportunistic infections, and abnormal T-cell differentiation and function due to LCK deficiency, leading to an important risk factor for inflammation and autoimmunity.	Preferred (foundation metadata concept)
A rare, complex chromosomal duplication/inversion in the region 15q11.2-q13.1 characterised by early central hypotonia, global developmental delay and intellectual deficit, autistic behaviour, and seizures.	Preferred (foundation metadata concept)
A rare, complex hereditary spastic paraplegia characterised by an early onset and slow progression of spastic paraplegia associated with cerebellar signs, nystagmus, peripheral neuropathy, extensor plantar responses and borderline to mild intellectual disability. Additional features of hypo- or areflexia, mild upper limb involvement and significant visual impairment (optic atrophy, vision loss, astigmatism) have been reported.	Preferred (foundation metadata concept)
A rare, complex hereditary spastic paraplegia characterised by an early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported.	Preferred (foundation metadata concept)
A rare, complex hereditary spastic paraplegia disorder characterised by infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment.	Preferred (foundation metadata concept)
A rare, complex hereditary spastic paraplegia disorder characterised by infantile onset of progressive lower limb spasticity, severe gait disturbances leading to a non-ambulatory state, absent deep tendon reflexes and amyotrophy. Additional signs include severe sensorimotor neuropathy, pes equinovarus and mild intellectual disability. Cerebellar and corpus callosum hypoplasia, as well as colpocephaly, are observed on neuroimaging.	Preferred (foundation metadata concept)
A rare, complex subtype of hereditary spastic paraplegia characterised by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs.	Preferred (foundation metadata concept)
A rare, complex type of hereditary spastic paraplegia characterised by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis.	Preferred (foundation metadata concept)
A rare, complex, vascular malformation syndrome characterised by capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of face and limbs, and partial or generalised overgrowth involving one or more body segments.	Preferred (foundation metadata concept)
A rare, congenital X-linked developmental disorder characterised by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis.	Preferred (foundation metadata concept)
A rare, congenital disorder of glycosylation caused by mutations in the COG2 gene and characterised by normal presentation at birth, followed by progressive deterioration with postnatal microcephaly, developmental delay, intellectual disability, seizures, spastic quadriplegia, liver dysfunction, hypocupraemia and hypoceruloplasminaemia in the first year of life. Diffuse cerebral atrophy and thin corpus callosum may be observed on brain MRI.	Preferred (foundation metadata concept)
A rare, congenital disorder of glycosylation characterised by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).	Preferred (foundation metadata concept)
A rare, congenital glomerular disease due to maternal anti-neutral endopeptidase (NEP) alloimmunisation characterised by severe renal failure and nephrotic syndrome at birth, which rapidly improves in the first weeks of life.	Preferred (foundation metadata concept)
A rare, congenital limb malformation characterised by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association.	Preferred (foundation metadata concept)
A rare, congenital limb malformation characterised by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the fifth finger. On radiographs, the middle phalanx of the index fingers often appear triangular and in severely affected cases, the index finger is curved radially. The lower limb phenotype is generally milder.	Preferred (foundation metadata concept)
A rare, congenital muscular dystrophy due to dystroglycanopathy characterised by proximal muscle weakness with a tendency for muscle hypertrophy and pseudohypertrophy, variable cognitive impairment, microcephaly, cerebellar hypoplasia with or without cysts, and other structural brain anomalies.	Preferred (foundation metadata concept)
A rare, congenital, arterial duct anomaly characterised by a saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures, can develop. Spontaneous resolution has been reported.	Preferred (foundation metadata concept)
A rare, congenital, atrioventricular valve malformation characterised by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnoea, cyanosis, depending also on accompanying congenital heart anomaly.	Preferred (foundation metadata concept)
A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterised by axonal neuropathy, manifesting at birth or shortly thereafter with generalised muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia.	Preferred (foundation metadata concept)
A rare, congenital, cerebellar malformation disorder characterised by complete or partial cerebellar vermis agenesis, with no other associated malformations or anomalies. Patients may be asymptomatic, although psychomotor delay, hypotonia and incoordination are usually associated. Additional variable manifestations include intellectual disability, oculomotor abnormalities (such as nystagmus, impaired smooth pursuit, impaired saccades, strabismus, ptosis, and oculomotor apraxia), retinopathy, abnormal visual evoked potentials, ataxia, episodic hyperpnoea, and delayed gait acquisition, as well as delayed speech and language development.	Preferred (foundation metadata concept)
A rare, congenital, intestinal malformation morphological anomaly characterised by an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly it presents in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority are found in the retro-rectal space where they communicate with, or are contiguous to, the rectum.	Preferred (foundation metadata concept)
A rare, congenital, isolated hyperinsulinism disorder characterised by diazoxide unresponsive recurrent episodes of hyperinsulinaemic hypoglycaemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycaemia may lead to variable clinical manifestation, ranging from asymptomatic hypoglycaemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycaemic coma or status epilepticus, further leading to poor neurological outcome.	Preferred (foundation metadata concept)
A rare, congenital, isolated hyperinsulinism disorder characterised by diazoxide unresponsive recurrent episodes of hyperinsulinaemic hypoglycaemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to a mutation in the ABCC8 gene. Pancreatic involvement is focal and can be cured by a selective partial pancreatectomy. Hypoglycaemia may lead to variable clinical manifestations, ranging from asymptomatic hypoglycaemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycaemic coma or status epilepticus, further leading to poor neurological outcome.	Preferred (foundation metadata concept)
A rare, congenital, isolated hyperinsulinism disorder characterised by neonatal presentation of severe refractory hypoglycaemia in the first two days of life, with limited response to medical management, sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to Kir6.2 deficiency. Persistent hypoglycaemia, hyperglycaemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycaemic coma or status epilepticus have also been associated.	Preferred (foundation metadata concept)
A rare, congenital, isolated hyperinsulinism disorder characterised by neonatal presentation of severe refractory hypoglycaemia in the first two days of life, with limited response to medical management, sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to SUR1 deficiency. Persistent hypoglycaemia, hyperglycaemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycaemic coma or status epilepticus have also been associated.	Preferred (foundation metadata concept)
A rare, congenital, non-syndromic heart malformation characterised by more or less than one coronary ostium at the left and at the right aortic sinus of Valsalva. It may be asymptomatic or it leads to myocardial ischaemia and technical difficulties during coronary angiography.	Preferred (foundation metadata concept)
A rare, congenital, non-syndromic, developmental defect during embryogenesis characterised by positioning of the heart in the right hemithorax, with the base and apex of the heart pointing caudally and to the right, due to abnormalities of embryologic origin that are intrinsic to the heart itself. Situs inversus or situs solitus may be associated, with extracardiac visceral transposition anomalies usually present in the former case and additional cardiac defects (e.g. septal defects, transposition of the great arteries, double-outlet right ventricle, anomalous pulmonary venous return, tetralogy of Fallot) frequently observed in both cases.	Preferred (foundation metadata concept)
A rare, congenital, vascular anomaly syndrome characterised by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and oedematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported.	Preferred (foundation metadata concept)
A rare, fatal multiple congenital anomalies/dysmorphic syndrome characterised by facial dysmorphism (including dolichocephaly/scaphocephaly, high frontal hairline, laterally overlapping upper eyelids, hypertelorism, prominent eyelashes, deep-set eyes, macrocornea, nystagmus, dysplastic ears, abnormal auricles, prominent nasal bridge, dental dysplasia), visual impairment, deafness, seizures, generalised skeletal dysplasia, high fingerprint ridge count, cryptorchidism, hypospadias, spasticity and severe intellectual disability. An increased chromosome breakage and a fatal lymphoid malignancy have been reported. There has been no further description in the literature since 1974.	Preferred (foundation metadata concept)
A rare, fatal, inborn error of metabolism disorder characterised by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic facies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated.	Preferred (foundation metadata concept)
A rare, genetic bone disorder characterised by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling.	Preferred (foundation metadata concept)
A rare, genetic cardiac disease characterised by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction.	Preferred (foundation metadata concept)
A rare, genetic coagulation disorder characterised by a mild to moderate bleeding tendency due to impaired platelet activation and aggregation in response to collagen, or impaired platelet-vessel wall interaction, resulting from a collagen receptor defect. Patients manifest with ecchymoses, epistaxis, menorrhagia, and/or post-traumatic and post-surgery bleeding complications. Laboratory analysis reveals prolonged bleeding time and, occasionally, mild thrombocytopenia.	Preferred (foundation metadata concept)
A rare, genetic coenzyme Q10 deficiency characterised by sensorineural deafness and severe, progressive nephrotic syndrome not responding to steroid treatment. Clinical manifestations include early onset proteinuria, hypoalbuminaemia and oedema, leading to end-stage renal disease. The renal biopsy reveals focal segmental glomerulosclerosis and diffuse mesangial sclerosis. Rarely, seizures, ataxia and dysmorphic features have been described.	Preferred (foundation metadata concept)
A rare, genetic congenital malformation syndrome characterised by bilateral anophthalmia (or less commonly microphthalmia) in association with a variable combination of the following: pulmonary hypoplasia or agenesis, congenital diaphragmatic hernia or eventration, and variable cardiovascular defects (congenital heart defects and/or pulmonary artery atresia). Intellectual disability is noted in surviving patients. Other variable malformations affecting different organ systems, as well as facial dysmorphism, may be observed.	Preferred (foundation metadata concept)
A rare, genetic developmental defect during embryogenesis disorder characterised by craniofacial dysmorphism (including brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability.	Preferred (foundation metadata concept)
A rare, genetic developmental defect during embryogenesis disorder characterised by sensorineural hearing impairment, childhood-onset cataract, underdeveloped secondary sexual characteristics, spinal muscular atrophy, growth retardation, and cardiac and skeletal anomalies. Sudden death, as well as fatal cardiomyopathy and heart failure, have been described in some cases.	Preferred (foundation metadata concept)
A rare, genetic developmental defect during embryogenesis syndrome characterised by camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism, and microcephaly. There have been no further descriptions in the literature since 1992.	Preferred (foundation metadata concept)
A rare, genetic disease characterised by pre-and postnatal growth delay, feeding difficulties, muscular hypotonia, motor developmental delay (with or without mild intellectual disability) and mild facial dysmorphism, such as broad, prominent forehead, short nose with flat nasal root and wide tip, downturned corners of mouth, high-arched palate and micrognathia. Additional features include childhood-onset central obesity, premature puberty and variable bone abnormalities (e.g. small hands and feet, dolichospondyly, slender long bones and craniofacial disproportion).	Preferred (foundation metadata concept)
A rare, genetic disorder of thiamine metabolism and transport characterised by infantile spasms progressing to symptomatic generalised or partial seizures, severe global developmental delay, progressive brain atrophy, and bilateral thalamic and basal ganglia lesions.	Preferred (foundation metadata concept)
A rare, genetic distal myopathy disorder characterised by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.	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)