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 movement disorder characterised by involuntary spasmodic contractions of the inspiratory muscles synchronised with larynx closure lasting for more than 48 hours.In rare pathological cases, hiccups may last for more than two days. Recurrent episodes over long periods are also called chronic hiccup. Clinical repercussions of these episodes may include dehydration, weight loss and malnutrition due to difficulty eating, sleep disorders, depression and exhaustion.	Preferred (foundation metadata concept)
A rare multi-systemic disease with less than 10 cases described in literature. Manifests in mid-adulthood with the development of telangiectasia mostly on the face, trunk and arms, as well as with erythrocytosis that may cause a red facies and occasionally, headaches. The increased serum erythropoietin levels precede the intrapulmonary shunting. The intrapulmonary shunts cause hypoxia which slowly progresses until the person needs continuous supplemental oxygen. Blood clots, probably due to erythrocytosis, and bleeding in the brain have also been reported in some affected individuals. Monoclonal gammopathy and perinephric fluid collections are usually found incidentally and do not seem to cause any complications. The syndrome has a slow and regular progression. The cause of TEMPI syndrome is currently unknown. The abnormal plasma-cell clone and/or the monoclonal gammopathy are suggested to be triggers of the disease.	Preferred (foundation metadata concept)
A rare multiple congenital anomalies syndrome characterised by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalised contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970.	Preferred (foundation metadata concept)
A rare multiple congenital anomalies syndrome usually characterised by microcephaly, ocular anomalies such as microphthalmia and apple peel intestinal atresia. Facial dysmorphism is reported in some cases and may include narrow or sloped forehead, hypertelorism, microphthalmia, dysplastic oedematous deep-set eyes, short palpebral fissures, large or low set ears, broad nasal root, anteverted or broad nasal tip, long philtrum, micrognathia, thin upper vermillion, large mouth and skin tag on the cheek. Motor delay and intellectual disability have been reported. Heart, brain, craniofacial abnormalities, renal hypoplasia and other anomalies (e.g. lower limb oedema, thrombocytopenia) are variably present. Rarely cases without intestinal atresia, microcephaly or developmental delay can be found. Severe lethal cases have also been reported.	Preferred (foundation metadata concept)
A rare multiple congenital anomalies syndrome with characteristics of craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies. To date less than 50 cases have been described. The exact cause is still unknown but mutations in KIAA0196 (8q24.13; coding for strumpellin) have been identified. Sporadic and familial cases have been reported. Transmission is autosomal recessive. Phenotypic variability exists between siblings.	Preferred (foundation metadata concept)
A rare multiple congenital anomalies syndrome with characteristics of distinctive facial appearance (low frontal hairline, bilateral ptosis, prominent eyes, flat midface, broad, ﬂat nares, Cupid's bow upper lip vermilion and small, low-set, posteriorly rotated ears), cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability.	Preferred (foundation metadata concept)
A rare multiple congenital anomalies syndrome with characteristics of facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis.	Preferred (foundation metadata concept)
A rare multiple congenital anomalies syndrome with characteristics of mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).	Preferred (foundation metadata concept)
A rare multiple congenital anomalies syndrome with characteristics of relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992.	Preferred (foundation metadata concept)
A rare multiple congenital anomalies syndrome with manifestations of bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995.	Preferred (foundation metadata concept)
A rare multiple congenital anomalies syndrome with mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). May also present with neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and grey matter heterotopia.	Preferred (foundation metadata concept)
A rare multiple congenital anomalies with intellectual disability syndrome with characteristics of infantile onset of global developmental delay, severe intellectual disability, growth deficiency, microcephaly, strabismus, blue-grey sclerae and extensive Mongolian spots. Some patients also present with epilepsy. Brain imaging may demonstrate variable abnormalities including cerebral atrophy, thin corpus callosum, ventriculomegaly or arachnoid cysts.	Preferred (foundation metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism (brachycephaly resulting from craniosynostosis, frontal bossing, downslanting palpebral fissures, large and low-set ears, depressed nasal bridge, high-arched, wide palate, thin upper lip), impaired neurological development with intellectual disability, hypotonia, pyloric stenosis, pectus excavatum, bilateral cryptorchidism and short stature.	Preferred (foundation metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (including epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (including abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Severe behaviour disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns are also associated. There have been no further descriptions in the literature since 1992.	Preferred (foundation metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of early-onset progressive bone marrow failure with anaemia, leucopenia, mild thrombocytopenia and myelodysplastic features. There are also non-haematologic manifestations such as developmental delay, cataracts, facial dysmorphism, short stature and skeletal anomalies. Immunodeficiency primarily affects B-cells and may lead to increased susceptibility to infections. Additional reported features include dry skin and eczema, cardiac anomalies, hearing loss and reduction of cerebral volume on brain imaging.	Preferred (foundation metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of large omphalocele containing liver and small intestine, diaphragmatic hernia, cardiovascular anomalies (e. g. aortic coarctation), variable limb malformations (including radioulnar synostosis, agenesis of the radius and/or thumb, generalised syndactyly, and numerical reduction of toes), and dysmorphic facial features. Additional reported manifestations are unilateral absence of umbilical artery, intestinal malrotation, hypoplastic ovaries, and unilateral renal agenesis, among others. The condition is mostly fatal in the neonatal period.	Preferred (foundation metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.	Preferred (foundation metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of moderate to severe intellectual disability, neurologic signs and symptoms (such as seizures, spasticity, strabismus), characteristic dysmorphic facial features (including broad forehead, hypertelorism, downslanting palpebral fissures, broad and flat nasal bridge, midline notch of upper lip, lack of upper central incisors, incomplete oral cleft, and prominent mandible), and acne scars. Hearing impairment, pseudo-bulbar palsy, growth retardation, and skeletal anomalies (camptodactyly, clinodactyly, bilateral cubitus valgus, pes cavus/planus) has also been described.	Preferred (foundation metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterised by global developmental delay, intellectual disability, macrothrombocytopenia, lymphoedema, and dysmorphic facial features (for example synophrys, ptosis, eversion of the lateral portion of the lower eyelid, thin upper lip). Additional reported manifestations include cardiac and genitourinary anomalies, sensorineural hearing loss, ophthalmologic abnormalities, skeletal anomalies and immunodeficiency. Brain imaging may show enlarged ventricles, cerebellar atrophy or white matter changes.	Preferred (foundation metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterised by mild global developmental delay, intellectual disability or learning difficulties, behavioural problems (like autistic, hyperactive, or aggressive behaviour), variable dysmorphic craniofacial features and abnormalities of the fingers (brachydactyly, tapering fingers, prominent interphalangeal joints). Additional manifestations are highly variable and include recurrent infections and skeletal anomalies among others.	Preferred (foundation metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, with characteristics of macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge and macrostomia), megalencephaly and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behaviour and cafe-au-lait spots among others.	Preferred (foundation metadata concept)
A rare multiple congenital anomaly/intellectual disability syndrome characterised by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability. The aetiology of C syndrome is still unknown. Although most of the reported patients are sporadic, rare cases of familial occurrence have been described.	Preferred (foundation metadata concept)
A rare multiple congenital defects/dysmorphic syndrome with characteristics of variable degrees of bony syngnathia associated with variable additional abnormalities including growth retardation, intellectual disability, microcephaly, iris coloboma, nystagmus, deafness and vertebral segmentation defects. Also associated with genital, limb and additional facial malformations.	Preferred (foundation metadata concept)
A rare multiple congenital malformation syndrome with characteristics of blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases of Ohdo who described two affected sisters and a first cousin, suggesting autosomal recessive inheritance. Autosomal dominant, X-linked- and mitochondrial inheritance have also been suggested.	Preferred (foundation metadata concept)
A rare multiple developmental anomalies syndrome with characteristics of the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate as well as cryptorchidism, feeding difficulties and hypotonia is associated. There have been no further descriptions in the literature since 1998.	Preferred (foundation metadata concept)
A rare multiple malformation syndrome with characteristics of severe intrauterine growth retardation, severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. Severe central nervous system defects are present. The syndrome is transmitted in an autosomal recessive manner.	Preferred (foundation metadata concept)
A rare multiple metaphyseal dysplasia disease with characteristics of disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982.	Preferred (foundation metadata concept)
A rare multiple sclerosis (MS) variant with characteristics of the onset of one or multiple episodes of clinical central nervous system (CNS) symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders before the age of 18 years old. Patients present a predominantly relapsing-remitting course with the first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on initial MRI, primarily of the supratentorial region and/or of the cervical spinal cord has been reported.	Preferred (foundation metadata concept)
A rare multisystemic autoimmune disease mainly characterised by intermittent painful muscle spasms, alopecia (totalis or universalis in most cases) and long-lasting diarrhoea that could lead to malnutrition, growth retardation, and amenorrhoea. Secondary bone deformities and various endocrine anomalies may also be associated. Antinuclear antibodies are reported in many cases.	Preferred (foundation metadata concept)
A rare myofibrillar myopathy with characteristics of slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo or areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases.	Preferred (foundation metadata concept)
A rare naevus disorder characterised by the presence of epidermal naevi consisting of depigmented hypertrichosis manifesting with long, soft, white hair which grows from dilated follicles and follows Blaschko lines, typically located on the scalp, neck, face, trunk and/or limbs. Association with hyperpigmented, hyperkeratotic linear epidermal naevi, macrocephaly, body asymmetry, sacral pit and koilonychia as well as skeletal, ocular and neurological abnormalities have also been reported.	Preferred (foundation metadata concept)
A rare nail anomaly disorder characterised by complete white discolouration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present. There is evidence the disease can be caused by homozygous or heterozygous mutation in the PLCD1 gene on chromosome 3p22-p21.3.	Preferred (foundation metadata concept)
A rare neoplastic disease characterised by the presence of a benign or malignant, pelvic or abdominal tumour (other than ovarian fibroma or fibroma-like and localised outside of the ovaries, fallopian tubes, and broad ligaments) associated with hydrothorax and ascites that resolve after tumour resection. Patients usually present with dyspnoea, pelvic mass with or without a tender, distended abdomen and/or weight loss.	Preferred (foundation metadata concept)
A rare neoplastic disease characterised by the presence of a tumour located in the parotid, sublingual, submandibular and/or minor salivary glands, which presents with a wide spectrum of clinical features depending on the location, size and type of salivary gland involved, usually manifesting as a slow-growing, painless, commonly solitary mass, rarely associated with facial nerve palsy or nasal/airway obstruction.	Preferred (foundation metadata concept)
A rare neoplastic disease with the presence of a neoplasm located in the parotid, sublingual, submandibular and/or minor salivary glands. The disease presents with a wide spectrum of clinical features depending on the location, size and type of salivary gland involved, ranging from clinically asymptomatic, slow-growing, painless mass(es), that may or may not be fixed to underlying skin or muscles, to rapidly growing mass(es) associated with pain, facial weakness/nerve palsy, dysphagia, palatal/parapharyngeal fullness, nasal obstruction/bleeding, voice hoarseness/change, trismus, palate bone erosion, telangiectasia, mucosal/skin ulceration and/or cervical adenopathy.	Preferred (foundation metadata concept)
A rare neoplastic disease with the presence of a testicular neoplasm composed of several, well-differentiated or immature, tissues derived from one or more of the 3 germinal layers. Patients typically present unilateral (occasionally bilateral) painless testicular swelling or a palpable testicular nodule/mass.	Preferred (foundation metadata concept)
A rare neoplastic gastroenterologic disease most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting, abdominal pain, jaundice, and weight loss/failure to thrive. Histologically, this malignant epithelial pancreatic neoplasm of the exocrine cells has multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests. Pancreatoblastoma can occur in any part of the pancreas. It is a malignant embryonal neoplasm that seems to recapitulate the embryogenesis of the pancreas, presumably because it originates from the pluripotent pancreatic stem cells during foregut development.	Preferred (foundation metadata concept)
A rare neoplastic lesion of the submucosal stroma, which can develop in any organ, often occurring in the lung, mesentery, omentum and the retroperitoneal region. It is histologically heterogenous, composed of spindle-shaped cells, myofibroblasts and inflammatory cells. It is usually benign, however local invasion, recurrence, malignant transformation with vascular invasion and metastases may occur. The presentation is nonspecific and depends on the organ involved. Some patients may present with paraneoplastic syndrome (fever, malaise, weight loss, thrombocytosis) or symptoms related to compression of adjacent organs, such as bowel obstruction.	Preferred (foundation metadata concept)
A rare neural tube closure defect characterised by an abnormally low lying conus which is tethered by a lumbosacral lipomatous mass (containing fatty tissue, nerve fibres, meningeal strands and fibrous bands) which engulfs the filum terminale and varying numbers of dorsal and ventral nerve root components, typically producing sensory, motor, bowel and/or bladder dysfunction. Cutaneous stigmata, absent or reduced reflexes and foot deformities (for example talipes cavovalgus) are frequently present.	Preferred (foundation metadata concept)
A rare neural tube defect with characteristics of cystic dilatation of the central canal of the spinal cord, herniating posteriorly through a dorsal spinal defect. The malformation can occur anywhere along the spinal cord but appears to be more frequent in the posterior cervical and the lumbosacral region. It may be an isolated anomaly or be associated with other defects, including anorectal and genitourinary anomalies, or sacral agenesis.	Preferred (foundation metadata concept)
A rare neuro inflammatory/neuro autoimmune disease with characteristics of acute (or subacute) onset of disturbance of consciousness (occasionally presenting as convulsions) and high fever associated with cerebral lesions (on magnetic resonance imaging) that are restricted to the limbic system (particularly the hippocampi and amygdalae), in the absence of viral, bacterial, fungal, paraneoplastic and other disorders.	Preferred (foundation metadata concept)
A rare neuro-ophthalmological disease with characteristics of nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease. Caused by homozygous or compound heterozygous mutation in the LAMA1 gene on chromosome 18p11.	Preferred (foundation metadata concept)
A rare neuro-ophthalmological disease with characteristics of severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophthalmia, retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, simplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.	Preferred (foundation metadata concept)
A rare neuro-ophthalmological disorder characterised by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anaesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum).	Preferred (foundation metadata concept)
A rare neurodegenerative disease characterised by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalised cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localised vitiligo have also been reported. There have been no further descriptions in the literature since 1989.	Preferred (foundation metadata concept)
A rare neurodegenerative disease usually presenting before the age of 30 with characteristics of dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline. Prevalence is unknown. Only 14 cases have been reported to date. Caused by mutations in the phospholipase A2, group VI (PLA2G6) gene located on chromosome 22q13.1. Inherited in an autosomal recessive manner.	Preferred (foundation metadata concept)
A rare neurodegenerative disease with characteristics of progressive cataracts, hearing loss, cerebellar ataxia, paranoid psychosis and dementia. Neuropathological features are diffuse atrophy of all parts of the brain, chronic diffuse encephalopathy and the presence of extremely thin and almost completely demyelinated cranial nerves. Caused by mutation in the ITM2B gene.	Preferred (foundation metadata concept)
A rare neurodegenerative disease with characteristics of progressive cognitive impairment, spastic tetraparesis and cerebellar ataxia resulting from amyloid deposits in the brain. Spasticity with increased deep tendon reflexes and tone are early symptoms, muscular rigidity evolves later. Progressive mental deterioration usually starts with apathy and impaired memory with progression to complete disorientation. Caused by heterozygous mutation in the ITM2B gene on chromosome 13q14.	Preferred (foundation metadata concept)
A rare neurodegenerative disease with characteristics of progressive dementia and ataxia, widespread cerebral amyloid angiopathy and parenchymal amyloid deposition. Two subtypes have been identified, ABri amyloidosis and ADan amyloidosis.	Preferred (foundation metadata concept)
A rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies. Onset occurs during the first few weeks or months of life with hypotonia, poor feeding, drowsiness and abnormal movements. Infantile spasms, hypsarrhythmia and seizures appear during the first year of life. Visual loss, abnormal eye movements and optic atrophy also occur during infancy. Transmission appears to be autosomal recessive. A significant number of patients have been described who displayed most of the diagnostic criteria and features of PEHO syndrome, but did not appear to have cerebral atrophy on MRI, lacked the ophthalmologic signs and showed no reduction in CSF IGF-1 levels. This group of patients was diagnosed with PEHO-like syndrome. The prognosis is poor and most patients die before 15 years of age, mainly as a result of pneumonia or aspiration.	Preferred (foundation metadata concept)
A rare neurodegenerative disorder with characteristics of early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the aconitase-2 gene (ACO2) on chromosome 22q13.	Preferred (foundation metadata concept)
A rare neurodevelopmental disorder that is lethal in males and with characteristics of variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system and of viscera (kidneys, pancreas and ovaries) in females. The disease is caused by mutations in the OFD1 gene (Xp22). A fraction of cases display genomic deletions. High penetrance has been reported but expression is highly variable. Follows an X-linked dominant pattern of inheritance. The gene mutations commonly occur de novo.	Preferred (foundation metadata concept)
A rare neuroendocrine neoplasm arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilii, organ of Zuckerkandl, thoracic paraspinal region, bladder and carotid body) not associated with catecholamine secretion. These neoplasms are usually clinically silent and symptoms if present are nonspecific and depend on the location of the neoplasm. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel lindau syndrome may be observed.	Preferred (foundation metadata concept)
A rare neuroendocrine neoplasm of pancreas characterised by morphologically recognisable neuroendocrine and non-neuroendocrine components, each constituting at least 30% of the tumour volume. Based on histopathology, mixed ductal- and mixed acinar-neuroendocrine carcinomas are distinguished. Patients usually present with unspecific symptoms related to tumour growth and/or metastasis, although occurrence of Zollinger-Ellison syndrome has been reported. Resectability of the tumour is the most important prognostic factor.	Preferred (foundation metadata concept)
A rare neuroimmunological disorder characterised by the onset of cognitive decline, psychiatric disturbances and seizures (distinctively faciobrachial dystonic seizures) in association with detection of LGI1 antibodies in serum or cerebrospinal fluid. Patients may present with confusion, hallucinations, vocalisation, paranoia, tangentiality, aggressive outbursts and/or spatial disorientation, as well as obstinate hyponatraemia. It is most often non-paraneoplastic, however comorbid tumours, such as small cell lung cancer and thymoma, have been reported.	Preferred (foundation metadata concept)
A rare neuroimmunological disorder with the onset of cognitive deficits, psychiatric disturbances (e.g. personality changes), seizures, peripheral nerve hyperexcitability, dysautonomia, neuropathic pain, insomnia and weight loss, in association with detection of caspr2 antibodies in serum or cerebrospinal fluid, with or without underlying malignancies. Other features reported include blepharoclonus, myoclonic status epilepticus, and dyskinesia.	Preferred (foundation metadata concept)
A rare neuroinflammatory disease characterised by the onset of ataxia, dysarthria and cerebral white matter changes that are triggered by viral infection. Episodic progressive neurodegeneration (manifesting with loss of motor and verbal skills, muscle weakness, further cerebral white matter degeneration and eventually, death) is observed in the absence of haematopathology, cytokine overproduction, fever, hypertriglyceridaemia, hypofibrinogenaemia and hyperferritinemia.	Preferred (foundation metadata concept)
A rare neuroinflammatory disorder with characteristics of brainstem-predominant encephalomyelitis, which typically presents with cerebellar and cranial nerve manifestations (gait ataxia, dysarthria, visual disorders, parasthesia), as well as brainstem, myelopathy and cognitive findings that respond to steroid treatment. Punctate curvilinear post-gadolinium contrast enhancement predominantly in the pons and cerebellum is observed on brain MRI and prominent, perivascular, CD3+ T-cell predominantly lymphocytic inflammation in neuropathology.	Preferred (foundation metadata concept)
A rare neurologic disease characterised by complex partial seizures with or without secondary generalisation, or idiopathic primarily generalised epilepsy, triggered by sexual orgasm. Seizures usually start immediately, shortly after or a few hours after the achievement of orgasm, last a few seconds or minutes, and are followed, in very rare cases, by intense migraine.	Preferred (foundation metadata concept)
A rare neurologic disease characterised by global developmental delay, intellectual disability, multiple ischaemic lesions on brain MRI, behavioural abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures.	Preferred (foundation metadata concept)
A rare neurologic disease characterised by seizures induced by specific cognitive tasks, such as calculation or solving arithmetic problems, playing thinking games (e.g. chess, cards), thinking, making decisions and abstract reasoning. Idiopathic generalised seizures are mainly involved, but partial epilepsies may, in rare cases, be observed.	Preferred (foundation metadata concept)
A rare neurologic disease characterised by the association of suction-swallowing dysfunction, abnormal laryngeal sensitivity and motility (manifesting with dyspnoea or obstructive apnoea-hypopnoea), gastrooesophageal reflux (generally resistant to medication) and cardiac vagal overactivity (e.g. brachycardia, vasovagal episodes) of varying degrees of severity. Impaired social interaction has also been reported.	Preferred (foundation metadata concept)
A rare neurologic disease characterised by the onset of generalised or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalised tonic-clonic seizures have been reported in rare cases.	Preferred (foundation metadata concept)
A rare neurologic disease with characteristics of excessive startle response to unexpected auditory, tactile or visual stimuli, associated with hyperreflexia.	Preferred (foundation metadata concept)
A rare neurologic disease with characteristics of frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemiplegia, spastic diplegia or spastic tetraplegia and intellectual disability.	Preferred (foundation metadata concept)
A rare neurologic disease with characteristics of persistent continuous bilateral visual experience of flickering snow-like dots throughout the visual field in association with other visual (including palinopsia, enhanced entopic phenomena, nyctalopia, photophobia and photopsia) and non-visual (migraine with or without aura, tinnitus and occasionally tremor) symptoms.	Preferred (foundation metadata concept)
A rare neurologic disease with characteristics of persistent elevation of the serum creatine phosphokinase (CK) without any clinical, neuro-physical or histopathological evidence of neuromuscular disease using available laboratory procedures. It is usually an incidental finding, diagnosed after exclusion of other possible causes of elevated CK levels.	Preferred (foundation metadata concept)
A rare neurologic disease with characteristics of rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointestinal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases.	Preferred (foundation metadata concept)
A rare neurologic disease with characteristics of seizures that are triggered by acoustic stimulation, which can be simple (as in startle epilepsy) or complex (for example musicogenic seizures, seizures triggered by the voice).	Preferred (foundation metadata concept)
A rare neurologic disease with characteristics of the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalmologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time.	Preferred (foundation metadata concept)
A rare neurologic disease with characteristics of tonic posturing or clonic movements triggered by micturition. Involvement of the extremities may be unilateral or bilateral. This may occur with or without loss of consciousness. Developmental delay is reported in some cases.	Preferred (foundation metadata concept)
A rare neurologic disease with characteristics of unpredictable, transient and spontaneous unresponsiveness lasting from hours to days, with a frequency of three to seven attacks per year, in the absence of readily discernible toxic, metabolic or structural causes.	Preferred (foundation metadata concept)
A rare neurologic disorder characterised by profound developmental delay, facial dysmorphism (including microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocoele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990.	Preferred (foundation metadata concept)
A rare neurologic disorder with characteristics of a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (such as dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported.	Preferred (foundation metadata concept)
A rare neurological condition with manifestation of seizures during the first year of life and choreoathetotic dyskinetic attacks during childhood or adolescence. Benign familial infantile epilepsy begins at 3 to 12 months of age with a family history of the same type of seizures. Seizures are afebrile and normally disappear after the first year of life. During childhood or adolescence, affected individuals present with paroxysmal kinesigenic dyskinesia with frequent and recurrent episodic choreathetotic or dystonic movements that last less than 1 minute. Can present as sporadic or familial, in the latter case, it is transmitted as an autosomal dominant trait that can be variably expressed within the same family.	Preferred (foundation metadata concept)
A rare neurological disease characterised by the development of paraesthesia as well as in severe cases progressive paresis and paralysis following irradiation of tumours in which the spinal cord is included within the radiation field. Symptoms may develop months or years after radiation therapy was administered.	Preferred (foundation metadata concept)
A rare neurological disease with characteristics of a generally deep poorly localised persistent facial pain that does not present characteristics of a cranial neuralgia and which cannot be attributed to another disorder.	Preferred (foundation metadata concept)
A rare neurological disease with characteristics of congenital narrowing of the bony anatomy of the cervical spinal canal. This disorder predisposes the individual to symptomatic neural compression with manifestations including cramps, paraesthesia, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances.	Preferred (foundation metadata concept)
A rare neurological disorder with characteristics of reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems.	Preferred (foundation metadata concept)
A rare neurological disorder with characteristics of relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported.	Preferred (foundation metadata concept)
A rare neurological mitochondrial DNA-related disorder characterised clinically by progressive paediatric-onset dystonia with variable degrees of severity.	Preferred (foundation metadata concept)
A rare neurometabolic disease characterised by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinaemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32.	Preferred (foundation metadata concept)
A rare neurometabolic disease characterised by a neonatal onset of seizures (often intractable), muscular hypotonia, feeding difficulties (poor sucking and/or swallowing) and mild to severe psychomotor delay, associated with nonketotic hyperglycinaemia typically revealed by biochemical analysis. Respiratory problems (apnoea, acute respiratory acidosis), lethargy, hearing loss, microcephaly and spasticity with pyramidal signs may also be associated.	Preferred (foundation metadata concept)
A rare neurometabolic disorder with features of seizures, progressive encephalopathy and lens dislocation. The prevalence is unknown but is very rare. Symptoms usually occur within the first week after birth with feeding difficulties, vomiting and seizures which are difficult to control. The majority of patients exhibit facial dysmorphism. The course is progressive, with spasticity, severe intellectual deficit, and microcephaly seen in survivors. Lens dislocation usually occurs late in infancy but has been observed as early as two months of age. A late onset form with a milder phenotype has also been described. Caused by a mutation in the SUOX gene (12q13.13). The disease follows an autosomal recessive pattern of inheritance.	Preferred (foundation metadata concept)
A rare neurometabolic disorder with main features described as childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa and that may be associated with parkinsonism at an older age. Inherited in an autosomal dominant manner, but due to gender-based incomplete penetrance, not everyone with a mutation will display the disease phenotype.	Preferred (foundation metadata concept)
A rare neuromuscular disease with characteristics of progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction.	Preferred (foundation metadata concept)
A rare neuromuscular disease with characteristics of slowly progressive lower limb muscular weakness and atrophy, without sensory impairment. Additional clinical features may include pes cavus, hammertoe and increased muscle tone.	Preferred (foundation metadata concept)
A rare neuronal ceroid lipofuscinosis disorder with characteristics of juvenile-onset progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and occasionally the retina upon post mortem.	Preferred (foundation metadata concept)
A rare non-acquired pituitary hormone deficiency syndrome with characteristics of severe congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature.	Preferred (foundation metadata concept)
A rare non-dystrophic myopathy with characteristics of slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy.	Preferred (foundation metadata concept)
A rare non-hereditary condition characterised by gastrointestinal stromal tumours (GIST), pulmonary chondromas and extraadrenal paragangliomas. Less than 100 cases have been reported worldwide. The disease primarily affects young women (mean age of onset 20 years). Most patients initially present with two of the three tumours (incomplete Carney's triad). The main symptoms at presentation are gastrointestinal bleeding, epigastric pain, anaemia and palpable abdominal mass. These symptoms are related to the GIST, which occur in 99% of cases. Pulmonary chondromas occur in approximately 80% of cases. Secreting paragangliomas (typically extraadrenal and most often mediastinal) occur in approximately 50% of patients. The aetiology is not completely understood. Impaired succinate dehydrogenase (SDH) function resulting from chromosomal losses (but not mutations) has been detected in some patients with Carney's triad.	Preferred (foundation metadata concept)
A rare non-inflammatory thrombotic vasculopathy predominantly affecting women in young adulthood. Livedo racemosa is a persistent net-like violaceous-cyanotic, mottled discolouration of the skin that is exacerbated by cold or pregnancy. Neurological manifestations include recurrent transient ischaemic attacks and infarcts. While about 50% of cases are idiopathic, the disease can be associated with autoimmune diseases like systemic lupus erythematosus and antiphospholipid syndrome. Genetic factors may play a role in the pathogenesis. Loss-of-function mutations in cat eye syndrome chromosome region candidate 1 CECR1 (22q11.2) encoding adenosine deaminase 2 have been found. Most cases are sporadic but some familial cases with an autosomal dominant inheritance have been reported.	Preferred (foundation metadata concept)
A rare non-paraneoplastic limbic encephalitis with characteristics of severe but potentially treatable autoimmune encephalitis associated with autoantibodies against neurexin-3alpha. Patients present with prodromal fever, headache, or gastrointestinal symptoms, followed by rapid progression to confusion, seizures, and decreased level of consciousness. Mild orofacial dyskinesia, as well as life-threatening complications like central hypoventilation requiring respiratory support may develop in some patients.	Preferred (foundation metadata concept)
A rare non-progressive form of cone photoreceptor dysfunction characterised by reduced visual acuity, normal retinal appearance and absent or reduce cone responses on electroretinography but normal colour vision. The syndrome is very rare with only 14 cases reported in the literature so far. The causative gene has not been identified. The reason for the presence of normal colour vision despite the reduced visual acuity and electrophysiological evidence of severe cone dysfunction is uncertain. It has been proposed that patients may have reduced numbers of normal functioning cones with preservation of the three cone types in normal proportions thereby enabling normal colour vision.	Preferred (foundation metadata concept)
A rare non-syndromic central nervous system malformation defined by the agenesis of the olfactory bulbs and tracts and with characteristics of complete congenital anosmia.	Preferred (foundation metadata concept)
A rare non-syndromic central nervous system malformation disorder with characteristics of severe microcephaly, overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly.	Preferred (foundation metadata concept)
A rare non-syndromic cerebellar malformation characterised by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioural disorders such as attention deficit hyperactivity disorder and generalised anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms.	Preferred (foundation metadata concept)
A rare non-syndromic cerebellar malformation with characteristics of loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal.	Preferred (foundation metadata concept)
A rare non-syndromic congenital heart malformation characterised by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnoea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated.	Preferred (foundation metadata concept)
A rare non-syndromic congenital heart malformation with characteristics of the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations and chest pain and exercise intolerance.	Preferred (foundation metadata concept)
A rare non-syndromic developmental defect of the eye. The disease has characteristics of well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders.	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)