900000000000509007: United States of America 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)\US 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
US 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 neoplastic disorder characterized by benign metastatic masses increasing in size and number after chemotherapy for non-seminomatous germ cell tumors of testis or ovary. It may present at any time after chemotherapy, with a median occurrence within 24 months after treatment completion. Per definition, the resected specimen exclusively contains mature teratoma components, and serum tumor markers have normalized. The retroperitoneum is the most common site, although almost any other localization has been reported. Increased tumor size may cause mechanical compression of vital organs, with renal dysfunction, bowel ischemia, and biliary obstruction as major complications.	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 with characteristics of partial lack of bone fusion resulting in sac-like protrusions of the brain and the membranes that cover it through the openings in the skull. Protruding tissue may be located on any part of the head but most often affects the occipital area. Depending in the size and location, encephalocele are often associated with neurological problems including intellectual disability, seizures, vision impairment, ataxia and hydrocephalus. This disorder is not associated with a polymalformative syndrome.	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-ophthalmological disease associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia or multiple-sclerosis like illness.	Preferred (foundation metadata concept)
A rare neuro-ophthalmological disease characterized by 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.	Preferred (foundation metadata concept)
A rare neuro-ophthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanel 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, generalized 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 disease which is one of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss with an onset during the first decade of life, associated with optic disc pallor, visual acuity loss, visual field deficits and color vision defects.	Preferred (foundation metadata concept)
A rare neurocutaneous syndrome characterized by the association of cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia) abnormalities. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behavior and bipolar disorder have also been reported.	Preferred (foundation metadata concept)
A rare neurodegenerative disease characterized by extrapyramidal symptoms (rigidity, tremor, bradykinesia) and dementia, typically beginning in the fifth or sixth decade of life and progressing to a vegetative state with pelvicrural flexion contractures within few years. Oculomotor signs, olfactory dysfunction, and autonomic disturbances may also be observed. Neuropathological hallmarks are frontotemporally accentuated cerebral atrophy, as well as neurofibrillary tangles and neuronal loss in a characteristic distribution in cortical and subcortical regions. The disease is endemic to the Pacific Island of Guam.	Preferred (foundation metadata concept)
A rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized 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 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.	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 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 syndrome characterized by developmental delay, intellectual disability of varying severity and weight disorders (overweight/obesity and eating behavior disorders including hyperphagia, tachyphagia, food impulsiveness and a feeling of permanent hunger). Additional clinical features include learning difficulties (may be combined with dysphasia, dyspraxia, dyscalculia, dysgraphia), severe language delay, behavioral disorders (stereotypies, impulsiveness or intolerance to frustration, self or hetero aggression, autism spectrum disorder) and non-specific dysmorphism. Epilepsy and ophthalmologic abnormalities can also be observed. Endocrine abnormalities are rarely associated.	Preferred (foundation metadata concept)
A rare neuroendocrine neoplasm of pancreas characterized by morphologically recognizable neuroendocrine and non-neuroendocrine components, each constituting at least 30% of the tumor volume. Based on histopathology, mixed ductal- and mixed acinar-neuroendocrine carcinomas are distinguished. Patients usually present with unspecific symptoms related to tumor growth and/or metastasis, although occurrence of Zollinger-Ellison syndrome has been reported. Resectability of the tumor is the most important prognostic factor.	Preferred (foundation metadata concept)
A rare neuroendocrine tumor arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilum, organ of Zuckerkandl, thoracic paraspinal region, bladder, and carotid body) not associated with catecholamine secretion. These tumors are usually clinically silent and symptoms, if present, are nonspecific and depend on the location of the tumor. 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 tumor of pancreas characterized by a well-differentiated epithelial pancreatic neuroendocrine neoplasm measuring at least 0.5 cm, without distinct hormonal syndrome. Tumors <0.5 cm are called microadenomas. Microadenomatosis is the multifocal occurrence of microadenomas. Histopathologic examination shows an organoid growth pattern and expression of synaptophysin and chromogranin A on immunohistochemistry. Tumors are often discovered incidentally, or patients may present with symptoms related to local or metastatic tumor spread. Microadenomas are considered benign, while larger tumors may behave in a malignant manner with extrapancreatic spread, metastasis, or recurrence.	Preferred (foundation metadata concept)
A rare neuroinflammatory disease characterized 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 hematopathology, cytokine overproduction, fever, hypertriglyceridemia, hypofibrinogenemia 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 condition characterized by focal cerebral ischemia and infarction due to blockage of a brain artery with subsequent impairment of blood supply and oxygenation of brain tissue. Most children present with hemiparesis with or without facial palsy at stroke onset. In addition, compared to adults, children more often suffer strokes in the posterior circulation, leading to ataxia or oculomotor disturbance. Likewise, aphasia is more frequent in pediatric patients. Other signs and symptoms include seizures, headache, vomiting, and alterations in the level of consciousness. Children under one year of age are more likely to present with seizures and altered level of consciousness, while older children more often show focal neurological deficits.	Preferred (foundation metadata concept)
A rare neurologic disease characterized by a 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 characterized by a specific pattern of white matter abnormalities on brain imaging (magnetic resonance imaging), as well as mild ataxia, headaches, mild visual impairment, learning difficulties and cases of male infertility.	Preferred (foundation metadata concept)
A rare neurologic disease characterized by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure.	Preferred (foundation metadata concept)
A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs.	Preferred (foundation metadata concept)
A rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions on brain MRI, behavioral 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 characterized by impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities, relatively intact memory and language in the early stages, and atrophy of posterior brain regions.	Preferred (foundation metadata concept)
A rare neurologic disease characterized by lethargy, hypotonia, poor feeding, opisthotonus, and a typical high-pitched cry due to bilirubin accumulation in the globus pallidus, sub-thalamic nuclei, and other brain regions, resulting from severe neonatal unconjugated hyperbilirubinemia. Onset of symptoms is typically within the first three to five days of life. Additional features include fever, apnea, seizures, and coma. Respiratory failure or refractory seizures may lead to a fatal outcome.	Preferred (foundation metadata concept)
A rare neurologic disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction.	Preferred (foundation metadata concept)
A rare neurologic disease characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. Absence or hypoplasia of the cerebellum and severe intra-uterine growth retardation can be detected prenatally. Patients also present with facial dysmorphism (a triangular face, small chin, low set ears), flexion contractures of the arms and legs, very little subcutaneous fat, and optic nerve hypoplasia. The disease is lethal in the neonatal period.	Preferred (foundation metadata concept)
A rare neurologic disease characterized by neonatal hypotonia, global developmental delay, feeding difficulties, and often seizures or seizure-like episodes. Other frequently observed signs and symptoms include variable dysmorphic features, myopathic facies, respiratory problems, and visual abnormalities, such as strabismus or esotropia. Brain imaging may show delayed myelination and other white matter abnormalities.	Preferred (foundation metadata concept)
A rare neurologic disease characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities, including progressive loss of gastric motility and small bowel diverticulosis and ulcerations, resulting in cachexia. Additional neurological manifestations may include dysarthria and absent tendon reflexes, as well as ptosis and external ophthalmoplegia. There have been no further descriptions in the literature since 1985.	Preferred (foundation metadata concept)
A rare neurologic disease characterized by seizures that are triggered by acoustic stimulation, which can be simple (as in startle epilepsy) or complex (e.g. musicogenic seizures, seizures triggered by the voice).	Preferred (foundation metadata concept)
A rare neurologic disease characterized by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiadochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986.	Preferred (foundation metadata concept)
A rare neurologic disease characterized by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder, and oculomotor and dental abnormalities.	Preferred (foundation metadata concept)
A rare neurologic disease characterized by the manifestation of an underlying psychiatric illness or malingering, and that cannot be attributed to any known structural or neurochemical diseases. Most cases fall in the psychiatric diagnostic category of conversion disorder, also referred to as functional neurological symptom disorder.	Preferred (foundation metadata concept)
A rare neurologic disease characterized by the presence of Duane retraction syndrome (a congenital cranial dysinnervation disorder with unilateral or bilateral limitation of abduction and/or adduction of the eye, as well as globe retraction and palpebral fissure narrowing on attempted adduction) in combination with congenital unilateral or bilateral hearing loss. The sidedness of hearing loss corresponds to the sidedness of the retraction syndrome.	Preferred (foundation metadata concept)
A rare neurologic disease characterized by 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 disease that is characterized by the early onset of cerebellar signs, eye movement abnormalities and pyramidal signs.	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 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 psychiatric involvement characterized by significantly lower-than-expected body weight due to voluntary reduction of food intake, intense fear of becoming overweight, and a distorted body image, in prepubescent children. Secondary manifestations include growth, developmental, and pubertal delay, decreased bone density, severe metabolic and endocrine dysfunction, cognitive impairment, depression, deterioration of academic or athletic performance, as well as difficulties in familial and peer relations, among others.	Preferred (foundation metadata concept)
A rare neurologic disease with psychiatric involvement with characteristics of a cluster of signs and symptoms of catatonia that are not associated with any underlying psychiatric or organic disorder or intoxication.	Preferred (foundation metadata concept)
A rare neurologic disease with psychiatric involvement with characteristics of prominent pre-psychotic developmental disabilities (cognitive, language, motor), socio-communicative disturbances, auditory hallucinations (visual and tactile hallucinations are rarer) preceding psychotic symptoms, presenting before 13 years of age. Co-occurrence of neurodevelopmental disorders (e.g. autism spectrum disorders, attention deficit hyperactivity disorder) is frequent. Disease course is more severe than adult-onset form of the disease, with major neurodevelopmental impact.	Preferred (foundation metadata concept)
A rare neurologic disorder characterized by 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 (i.e. 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 disease with characteristics of a generally deep poorly localized 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 disorder characterized by a 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 comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis. Age of onset peaks around 45 and symptoms develop over months or years. Progressive muscle stiffness renders the trunk and hips immobile and the gait becomes stiff and awkward. The presence of antibodies against glutamic acid decarboxylase (GAD-Abs) in more than 70% of cases suggests an autoimmune pathogenesis. GAD-Abs may block synthesis of the inhibitory neurotransmitter, gamma-aminobutyric acid (GABA) thereby attenuating inhibition of spinal motoneurones.	Preferred (foundation metadata concept)
A rare neurometabolic disease characterized by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinemia 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 characterized 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 hyperglycinemia typically revealed by biochemical analysis. Respiratory problems (apnea, acute respiratory acidosis), lethargy, hearing loss, microcephaly and spasticity with pyramidal signs may also be associated.	Preferred (foundation metadata concept)
A rare neurometabolic disease characterized by acute, reversible, and sometimes recurrent neurologic deterioration (including drowsiness, hypotonia, dysarthria, and ataxia) during a febrile illness. The condition is associated with reversible leukoencephalopathy and persistently increased urinary excretion (and sometimes cerebrospinal fluid concentration) mainly of alpha-ketoglutarate and N-acetylaspartate.	Preferred (foundation metadata concept)
A rare neurometabolic disease characterized by infantile onset of rapidly progressive neurological deterioration, typically precipitated by a febrile illness. Patients present with hypotonia, loss of previously acquired motor milestones and cognitive skills, ataxia, nystagmus, tremor, seizures, tetraparesis, and respiratory failure, eventually resulting in a vegetative state. Imaging of the brain and spinal cord may show white matter abnormalities, cerebral atrophy, cerebellar edema, and spinal myelopathy. Subacute development of extensive bullous skin lesions within weeks of onset of neurological symptoms has also been reported.	Preferred (foundation metadata concept)
A rare neurometabolic disease characterized by infantile onset of repeated episodes of developmental regression and neurodegeneration, often triggered by febrile illnesses. Patients present with lethargy, hypotonia, irritability, gait ataxia, loss of speech, movement disorder, seizures, ophthalmoplegia, and hearing loss. Brain imaging shows generalized cerebral atrophy and bilateral basal ganglia abnormalities. Extensive skin lesions, cardiomyopathy, and pancytopenia have been reported in association. The condition is fatal in the first years of life.	Preferred (foundation metadata concept)
A rare neurometabolic disease, due to a lipoic acid biosynthesis defect, with a highly variable phenotype, typically characterized by early-onset acute or subacute developmental delay or regression frequently associated with feeding difficulties. Clinical severity is variable and may range from mild cases which present a later onset with slow neurological deterioration and general improvement over time to severe cases with clinical signs since birth and leading to early death. Associated manifestations include hypotonia, vision loss, respiratory failure, seizures, and intellectual disability. Brain magnetic resonance imaging frequently shows cavitating leukoencephalopathy with lesions in the periventricular/central white matter and parieto-occipital lobes.	Preferred (foundation metadata concept)
A rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.	Preferred (foundation metadata concept)
A rare neurometabolic disorder due to serine deficiency characterized by neonatal to infantile onset of global developmental delay, postnatal microcephaly and intellectual disability, which may be associated with slowly progressive spastic tetraplegia mainly affecting the lower extremities, seizures, and brain MRI findings including thin corpus callosum, delayed myelination and cerebral atrophy. Additional symptoms include brisk deep tendon reflexes, extensor plantar responses, behavioral abnormalities (such as irritability, hyperactivity, sleep disorder), abnormal hand movements and stereotypy.	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 nevus disorder characterized by the presence of epidermal nevi 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 nevi, 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 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-amyloid monoclonal immunoglobulin deposition disease characterized by production of monoclonal immunoglobulins with truncated heavy chains and no detectable light chains, which are deposited in tissues and cause organ dysfunction, but do not form amyloid beta-pleated sheets or contain an amyloid P component. The condition frequently occurs in association with multiple myeloma. Patients most commonly present with renal involvement (manifesting as hypertension, progressive renal dysfunction, anemia, and nephrotic syndrome with microhematuria), but other organs (such as the liver or skin) may also be affected. Production of IgG1 or IgG3 isotypes results in hypercomplementemia.	Preferred (foundation metadata concept)
A rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.	Preferred (foundation metadata concept)
A rare non-hereditary degenerative ataxia disease characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported.	Preferred (foundation metadata concept)
A rare non-histaminic angioedema characterized by potentially life-threatening episodes of edema of subcutaneous and/or mucosal tissues without urticaria, caused by excessive consumption of C1 esterase inhibitor (C1-INH) in the context of lymphoproliferative or autoimmune diseases. Patients typically present in the fourth decade of life or later and without a family history of angioedema. Clinical manifestation includes nonpitting edema of the skin predominantly involving the face, but also the limbs or genitals, as well as abdominal pain due to involvement of the gastrointestinal mucosa and severe edema of the upper airway and oral mucosa. Laboratory examination shows low C1-INH activity and low C3, C4, and C1q levels. Autoantibodies to C1-INH are frequently detectable.	Preferred (foundation metadata concept)
A rare non-inflammatory vasculopathy characterized by intracompartmental pressure typically in a distal upper extremity due to intrauterine ischemia and external compression. Affected limb presents significant swelling and sentinel skin changes (desquamation, blister/bullae formation, and skin necrosis). It can lead to long-term sequelae including Volkmann contracture, limb length discrepancies, bone growth abnormalities and nerve lesions. Neurologic involvement, ranging from sensory and motor nerve palsies to complete hand paralysis, may persist.	Preferred (foundation metadata concept)
A rare non-progressive form of cone photoreceptor dysfunction syndrome characterized by reduced visual acuity, normal fundus appearance and absent or reduced cone responses on electroretinography. In contrast to all other forms of cone dysfunction color vision is normal.	Preferred (foundation metadata concept)
A rare non-severe combined immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions due to CARD11 deficiency. It presents with severe susceptibility to infections, including opportunistic infections.	Preferred (foundation metadata concept)
A rare non-severe combined immunodeficiency characterized by tumor necrosis factor-dependent chronic mucocutaneous ulcerations and inflammatory bowel disease presenting during the first years of life. Ulcerations occur primarily in the oral, gastrointestinal, and vaginal mucosa.	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 esophageal malformation characterized by intrinsic narrowing of the esophagus, caused by congenital malformation of esophageal wall architecture present at birth. Patients manifest dysphagia and progressive vomiting. Esophageal food impaction, failure to thrive or respiratory distress can be present. Symptoms are often attributed to colic or reflux, thus diagnosis is often difficult.	Preferred (foundation metadata concept)
A rare non-syndromic limb malformation characterized by a hand or foot with more than five digits that has a recognizable anterior/posterior axis of symmetry, either with a hallux- or thumb-like structure or an interdigital space in the middle. The most lateral digits on each side typically resemble fifth fingers or toes. The malformation may be unilateral or bilateral and may occur in isolation or in association with other congenital anomalies.	Preferred (foundation metadata concept)
A rare non-syndromic syndactyly characterized by a distinctive combination of syndactyly and polydactyly, generally affecting the 3rd and 4th fingers and the 4th and 5th toes, bilaterally, with partial or complete reduplication of a digital ray within the syndactylous web. Additional features include 5th finger clinodactyly, camptodactyly and/or brachydactyly.	Preferred (foundation metadata concept)
A rare non-syndromic syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers. In most cases, it is a soft tissue syndactyly, but occasionally the distal phalanges may be fused. The middle phalanx of the fifth finger is usually hypoplastic, and the feet are not affected.	Preferred (foundation metadata concept)
A rare non-syndromic syndactyly characterized by complete bilateral cutaneous fusion of all fingers, frequently associated with polydactyly (usually involving six digits and six metacarpals). Phalanges may fuse as a conglomerate mass of bones. Feet are occasionally affected.	Preferred (foundation metadata concept)
A rare non-syndromic syndactyly characterized by complete or partial webbing between the 3rd and 4th fingers and/or the 2nd and 3rd toes. Other digits may be involved occasionally. The phenotype varies widely within and between families, sometimes only the hands are affected and sometimes only the feet. Webbing between fingers may be associated with bony fusion of the distal phalanges.	Preferred (foundation metadata concept)
A rare non-syndromic syndactyly characterized by mesoaxial reduction of fingers, complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, malformed thumbs, and hypoplasia and clinodactyly of the 5th finger. Preaxial webbing of toes with terminal phalangeal hypoplasia of all toes has been reported in association.	Preferred (foundation metadata concept)
A rare non-syndromic syndactyly characterized by soft tissue syndactyly of the 3rd and 4th fingers and the 2nd and 3rd toes associated with metacarpal and metatarsal fusion of the 4th and 5th digits. Shortening of fused metacarpals, ulnar deviation of fingers, interdigital cleft, camptodactyly, short distal phalanges, and absent distal interphalangeal creases have also been reported.	Preferred (foundation metadata concept)
A rare non-syndromic syndactyly characterized by unilateral fusion of 2nd to 5th fingers, amalgamation of distal phalanges in a knot-like structure, and fusion of the 2nd and 3rd toe. Some individuals present only with webbing between the 2nd and 3rd toes, without involvement of fingers.	Preferred (foundation metadata concept)
A rare non-syndromic urogenital tract malformation characterized by a dilated ureter and normal bladder and bladder outlet. It may be obstructed, refluxing or unobstructed and not refluxing.	Preferred (foundation metadata concept)
A rare non-syndromic uterovaginal malformation with characteristics of variable degrees of cervical aplasia, ranging from complete agenesis to the presence of a cervix with a cervical canal that contains a blind end. Patients typically present primary amenorrhea, cyclical abdominal or pelvic pain, dyspareunia and/or reproductive problems.	Preferred (foundation metadata concept)
A rare nonhereditary systemic amyloidosis characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease. Cardiac involvement presents as hypertrophic obstructive cardiomyopathy, left ventricular outflow tract obstruction, coronary artery disease and conduction system abnormalities. Histology reveals medullar amyloid deposits, renal tubular atrophy, interstitial fibrosis, and glomerular sclerosis.	Preferred (foundation metadata concept)
A rare occipital epilepsy syndrome with onset most commonly between four and seventeen years (mean eleven years; range one to fifty years). Seizures are triggered by photic stimuli such as flickering sunlight. Focal sensory visual seizures which may evolve to bilateral tonic-clonic seizures are mandatory for the diagnosis. Focal sensory visual semiology includes colored spots, formed visual hallucinations, or visual blurring/loss that moves across the visual field. There is associated head and eye version. Seizures may progress to a cephalic sensation (including headache), autonomic epigastric sensation or vomiting, and impaired awareness or to a focal to bilateral tonic-clonic seizure. Seizures are typically brief (less than three minutes), although prolonged seizures may occur. Development and cognition are typically normal. Neurological examination is normal. The background electroencephalogram (EEG) activity is normal. Occipital epileptiform abnormalities facilitated by eye closure and intermittent photic stimulation are seen. Epileptiform activity is elicited by sleep deprivation and by sleep. MRI is normal or has nonspecific findings.	Preferred (foundation metadata concept)
A rare odontogenic neoplasm with characteristics of aggressive clinical course and local destruction, occurring in mandible more often than in maxilla. The most common symptom is a rapidly progressing painful swelling but it may present as a benign cystic lesion or as a large, rapidly growing mass with ulceration, bone resorption and teeth mobility, as well. The neoplasm may metastasize, most commonly to the cervical lymph nodes and the lungs.	Preferred (foundation metadata concept)
A rare ophthalmic condition characterized by formation of excessive scar tissue between the conjunctiva/Tenon capsule and the sclera at the surgical site following glaucoma filtration surgery. Scarring can occur months or years after surgery, resulting in treatment failure with poor postoperative control of intraocular pressure and, potentially, loss of vision.	Preferred (foundation metadata concept)
A rare ophthalmic disease and a severe form of microphthalmia (small eye phenotype) characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.	Preferred (foundation metadata concept)
A rare ophthalmic disorder characterized by a non-infectious uveitis potentially involving all parts of the uveal tract and due to a paraneoplastic autoimmune reaction. The signs and symptoms usually precede the tumor diagnosis and may include ocular redness and pain, light sensitivity, blurred vision, floaters, and decreased vision. The most classic form is the intermediate uveitis associated with anti-CV2 antibodies in small-cell lung cancer or other neoplasms. Other ocular and/or extra-ocular manifestations are commonly present in addition.	Preferred (foundation metadata concept)
A rare ophthalmic disorder characterized by bilateral ptosis, upper ocular movement limitation, absence of the lacrimal punctum and facial dysmorphism including, narrow and squared forehead, bilateral thick and arched eyebrows, absence of bilateral lower medial eyelashes, telecanthus, mild anteverted nostrils, a relatively long philtrum and maxillary hypoplasia. Some patients may have low set and dysplastic ears.	Preferred (foundation metadata concept)
A rare ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type 1) or without primary ovarian insufficiency (POI; type 2).	Preferred (foundation metadata concept)
A rare ophthalmic disorder characterized by clinical signs of Graves orbitopathy (unilateral or bilateral lid retraction, exophthalmos, soft tissue involvement, restrictive myopathy, and/or optic neuropathy) with normal thyroid function and without any signs of hyperthyroidism. Laboratory examination typically reveals low serum levels of thyroid-stimulating hormone receptor autoantibodies.	Preferred (foundation metadata concept)
A rare ophthalmic disorder characterized by idiopathic orbital inflammation in which the specific target tissue is the optic nerve sheath. Patients typically present with ocular pain, pain on eye movement, visual symptoms with loss of vision progressing over several weeks, dyschromatopsia, and variable visual field defects. Orbital signs and symptoms may be present and include ptosis, ophthalmoplegia, and exophthalmos. Optic disc edema is observed in most cases. The condition is usually unilateral.	Preferred (foundation metadata concept)
A rare ophthalmic disorder characterized by periodic inflammatory attacks of the cornea manifesting as unilateral ocular pain, conjunctival hyperemia, photophobia and epiphora lasting for 1 to 3 days, followed by blurred vision for several weeks. Caused by a heterozygous pathogenic variant c.61G>C, p.(Asp21His) in the NLRP3 gene. The pathogenic variant is highly penetrant (95%). The disease is autosomal dominant.	Preferred (foundation metadata concept)
A rare ophthalmic disorder characterized by visual abnormalities (such as myopia, strabismus, or amblyopia) due to the presence of myelinated retinal nerve fibers, which appear as whitish patches with feathery edges at the level of the retinal nerve fiber layer and may be continuous or discontinuous with the optic nerve head. The defect can be unilateral or bilateral.	Preferred (foundation metadata concept)
A rare ophthalmic disorder with cranial nerve involvement characterized by dysfunction of the superior oblique muscle with typical eye motility patterns including elevation in adduction, V-pattern related to reduced abduction force in downgaze with unopposed adduction by the inferior rectus muscle, and excyclotorsion. Patients may present with contralateral head tilt to compensate for vertical binocular misalignment and diplopia.	Preferred (foundation metadata concept)
A rare ophthalmic disorder with cranial nerve involvement characterized by partial or complete ptosis and ophthalmoplegia with impaired ability to elevate, depress, or adduct the eyeball, causing strabismus and amblyopia. The pupils can also be dilated. The condition is typically unilateral and may present with or without aberrant regeneration.	Preferred (foundation metadata concept)
A rare organic aciduria characterized by early onset of global developmental delay with severe intellectual disability, seizures, and 3-methylglutaconic aciduria. Additional features are hypotonia, hyperactivity and aggressive behavior, optic atrophy, or spasticity. Brain imaging may show generalized cerebral atrophy and white matter abnormalities.	Preferred (foundation metadata concept)
A rare organic aciduria characterized by increased urinary excretion of 3-methylglutaconic acid, variably associated with neutropenia (sometimes causing recurrent severe infections and potentially resulting in leukemia) and progressive neurologic manifestations, such as global developmental delay, intellectual disability, hypotonia, movement disorder, and seizures. Microcephaly, cataract, facial dysmorphism, growth retardation, endocrine abnormalities, and cardiomyopathy have also been reported. Brain imaging may show cerebral or cerebellar atrophy, or abnormalities of the basal ganglia.	Preferred (foundation metadata concept)
A rare organic aciduria characterized by neonatal onset of hypotonia, recurrent apneic episodes, lack of psychomotor development, feeding difficulties, extrapyramidal signs, and seizures. Other reported features include microcephaly, sensorineural deafness, bradycardia, and neutropenia. Laboratory studies show increased serum lactate and urinary excretion of 3-methylglutaconic acid. Brain imaging may reveal progressive cerebral atrophy. The disease is lethal in infancy.	Preferred (foundation metadata concept)
A rare organic aciduria with characteristics of impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported.	Preferred (foundation metadata concept)
A rare orofacial clefting syndrome characterized by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints). Growth and mental development were normal.	Preferred (foundation metadata concept)

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Reference Sets

Reference set descriptor

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
900000000001115012	United States of America 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)
900000000001116013	US English	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)
900000000001117016	United States of America 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)