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 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 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 with characteristics of the presence of Duane retraction syndrome (i.e. 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 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 disease with the manifestation of an underlying psychiatric illness that cannot be attributed to any known structural or neurochemical disease. The disease presents typically during adolescence or adulthood. Symptoms may include one or several types of abnormal movements seen in organic movement disorders (tremor, dystonia, chorea, bradykinesia, myoclonus, tics, athetosis, ballism, cerebellar incoordination) and also affect speech and gait. Underlying causes fall into three categories: Conversion disorder, somatic symptom disorders or in rare cases factitious disorder.	Preferred (foundation metadata concept)
A rare neurologic disorder characterized 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 hydrocele 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 characterized by the development of paresthesia as well as in severe cases progressive paresis and paralysis following irradiation of tumors 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 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 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, paresthesia, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances.	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 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 characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity.	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 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 due to a lipoic acid biosynthesis defect with a highly variable phenotype. Typical characteristics are 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 disease with characteristics of 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 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 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 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-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia.	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 characterized by gastrointestinal stromal tumors (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 tumors (incomplete Carney's triad). The main symptoms at presentation are gastrointestinal bleeding, epigastric pain, anemia 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 etiology 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-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 thrombotic vasculopathy predominantly affecting women in young adulthood. Livedo racemosa is a persistent net-like violaceous-cyanotic, mottled discoloration of the skin that is exacerbated by cold or pregnancy. Neurological manifestations include recurrent transient ischemic 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-progressive form of cone photoreceptor dysfunction characterized by reduced visual acuity, normal retinal appearance and absent or reduce cone responses on electroretinography but normal color 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 color 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 color 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 characterized 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. Behavioral disorders such as attention deficit hyperactivity disorder and generalized 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 characterized 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 dyspnea, 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)
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 limb malformation with characteristics of fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis. The disease is frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula and valgus deformity of the knee.	Preferred (foundation metadata concept)
A rare non-syndromic potentially life-threatening visceral malformation with the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings. There is evidence this disorder is caused by heterozygous mutation in the RPSA gene on chromosome 3p21.	Preferred (foundation metadata concept)
A rare non-syndromic urogenital tract malformation with the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible.	Preferred (foundation metadata concept)
A rare non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhea, unilateral obstruction and endometriosis could be observed. Unlike urinary tract abnormalities, which are very rarely associated, poor reproductive outcome is frequent.	Preferred (foundation metadata concept)
A rare non-syndromic uterovaginal malformation with characteristics of a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated.	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 normolipemic non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjunctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthoma macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease.	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 with characteristics of the 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 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 characteristics of 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 neoplasm 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 with characteristics of clinical signs of Graves orbitopathy (such as 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 with characteristics of 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 with cranial nerve involvement and characteristics of 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 and characteristics of 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 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 osteogenesis imperfecta-like disorder, described in two patients to date, with clinical characteristics of persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986.	Preferred (foundation metadata concept)
A rare osteonecrosis disease with characteristics of death of bone cellular components secondary to an interruption of the subchondral blood supply. The disease typically manifests with unilateral or bilateral, unifocal or multifocal lesions usually located on the epiphysis, metaphysis and/or diaphysis of the femoral heads, knees, shoulders, ankles and/or wrists, leading to gradual onset of pain and progressive joint degeneration resulting in loss of function. Association with corticosteroid usage, alcoholism, hyperbaric events, radiation or cytotoxic agent exposure, hemoglobinopathies, and/or underlying autoimmune or metabolic disease amongst others has been observed.	Preferred (foundation metadata concept)
A rare osteonecrosis with characteristics of an exposed necrotic lesion in the mandible or maxilla present for more than eight weeks, arising as a complication of antiresorptive medication, dental intervention, trauma and infection. Patients may present with pain, altered neurosensory functions, secondary infections, and (in advanced stages) pathological fractures or fistulae.	Preferred (foundation metadata concept)
A rare osteonecrosis with characteristics of bone necrosis due to disrupted blood supply in the absence of a known cause. Affected bones include the femoral head, talus, vertebral body, humerus and scaphoid among others. Patients may initially be asymptomatic but subsequently present with gradually developing refractory pain, swelling and reduced range of motion. If left untreated the condition may progress to bone collapse with secondary degeneration, fragmentation and pathological fracture as well as osteoarthritis.	Preferred (foundation metadata concept)
A rare otorhinolaryngologic disease with characteristics of an indolent submucosal mass of variable size and extent, most commonly arising in the anterior nasal cavity, involving the nasal septum and lateral nasal wall and potentially extending into the adjacent sinuses. Occurrence in the larynx and lower respiratory tract or the orbit is rare. Histological examination shows concentric angiocentric stromal fibrosis (onionskin fibrosis) and prominent eosinophils. Increased numbers of IgG4-positive plasma cells in the lesion may also be observed, in addition to elevated serum IgG4. Patients typically present with long-standing obstructive symptoms.	Preferred (foundation metadata concept)
A rare otorhinolaryngologic disease with characteristics of dysfunction of both peripheral labyrinths or of the eighth nerves, which presents with persistent unsteadiness of gait (particularly in darkness, during eye closure or under impaired visual conditions, or when standing/walking on uneven, soft or wobbly ground) and oscillopsia associated with head movements. The disease may be progressive, presenting no episodes of vertigo, or sequential, presenting recurrent episodes of vertigo.	Preferred (foundation metadata concept)
A rare otorhinolaryngologic disease with characteristics of the unilateral or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, pulsatile tinnitus) and/or vestibular symptoms (sound or pressure-evoked oscillopsia or vertigo, characteristic vertical-torsional eye movements), depending on which semicircular canal is affected. Posterior SCD syndrome is associated with high-riding jugular bulb and fibrous dysplasia, while lateral SCD syndrome is associated with chronic otitis media and cholesteatoma, with or without audiological and vestibular symptoms.	Preferred (foundation metadata concept)
A rare otorhinolaryngological malformation characterized by a hypoplastic or absent cochlear nerve, resulting in variable hearing loss or total deafness, depending on the quantity of nerve fibers present. The condition can be unilateral or bilateral, occur as an isolated malformation or in the context of a complex syndrome and may be associated with a hypoplastic internal auditory or cochlear nerve canal.	Preferred (foundation metadata concept)
A rare otorhinolaryngological malformation syndrome with characteristics of a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability. Reported in 3 families to date. The facies has a mask-like appearance due to weakness of facial muscles and lacrimal duct obstruction is characteristic. Clinical features also include telecanthus, bulky nose, broad nasal bridge, sometimes a hypoplastic midface, longitudinal cheek furrows, trapezoidal upper lip and malformation of the ears. Intellectual disability, cutaneous syndactyly, torsion dystonia, increased deep tendon reflexes; Babinski sign, poor coordination and joint laxity are also observed.	Preferred (foundation metadata concept)
A rare otorhinolaryngological malformation with a unilateral or bilateral fistula located at the corner of the mouth, where the vermillion border of the upper lip meets that of the lower lip. The lesion is lined by labial mucosa. It is potentially susceptible to infection.	Preferred (foundation metadata concept)
A rare otorhinolaryngological malformation with characteristics of varying degrees of malformation of the inner ear associated with severe to profound congenital sensorineural hearing loss in the absence of cochlear nerve anomalies (hypoplasia or aplasia). Categorization of the malformation is based on the morphology of the cochlea, modiolus, and lamina cribrosa, which can range from normal development of these structures (with the malformation being limited to other structures of the inner ear) to their complete absence.	Preferred (foundation metadata concept)
A rare otorhinolaryngological malformation with the presence of a cyst, sinus or fistula occurring along the anterior border of the sternocleidomastoid muscle. Second branchial cleft fistula and sinuses present with skin opening with chronic discharge and recurrent infections, whereas second branchial cleft cysts present as a painless, nontender, stable in size or slowly enlarging lateral neck masses. Cysts occasionally acutely increase in size during upper respiratory tract infection, leading to respiratory compromise, torticollis and dysphagia.	Preferred (foundation metadata concept)
A rare ovarian germ cell malignant tumor arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterized by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin. It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma.	Preferred (foundation metadata concept)
A rare overgrowth syndrome associated with multiple congenital anomalies with characteristics of tall stature, large hands and feet with large thumbs and halluces, spatulate digits, developmental delay and facial dysmorphism. Biallelic loss of function variants in FIBP (11q13.1) are responsible for this phenotype. Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A rare overgrowth syndrome with characteristics of long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibia and dysmorphic facial features (hypertelorism, high palate, or micrognathia) along with aortic root dilatation and umbilical hernia have also been reported.	Preferred (foundation metadata concept)
A rare overgrowth syndrome with skeletal involvement and characteristics of pre or postnatal onset of overgrowth, accelerated bone age in infancy and early childhood, tall stature, bony overgrowth of the skull base, spondylar dysplasia, and undermodeling of the tubular bones. Facial dysmorphism includes mild hypertelorism, depressed nasal bridge, short and broad nose, and full lower lip. Additional reported features are scoliosis, as well as delayed puberty, cryptorchidism, and hypospadias.	Preferred (foundation metadata concept)
A rare palpebral disorder characterized by recurrent episodes of painless eyelid edema. It usually occurs bilaterally, typically affects the upper eyelids, and may manifest as a hypertrophic form resulting in orbital fat herniation through a weakened orbital septum, or an atrophic form with atrophy of redundant eyelid skin and superior nasal fat pads. Additional findings are formation of pseudo epicanthal folds, lacrimal gland prolapse or ptosis.	Preferred (foundation metadata concept)
A rare pancreatobiliary disease characterized by marked duct-centered lymphoid follicular inflammation that develops in both biliary and pancreatic ductal systems, mainly affecting the hilar bile ducts and the pancreatic head. Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. Histology shows lymphoplasmacytic infiltration with formation of numerous, large lymphoid follicles around the affected bile and pancreatic ducts.	Preferred (foundation metadata concept)
A rare parasitic disease characterized by the infestation of natural body cavities with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), hemorrhage, pain, edema, sensory loss, malodor, and pruritus, among others. Neurological features (motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis.	Preferred (foundation metadata concept)
A rare parkinsonian disorder with characteristics of unilateral body atrophy and slowly progressive, ipsilateral hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantars are frequently associated.	Preferred (foundation metadata concept)
A rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex and cerebellum.	Preferred (foundation metadata concept)
A rare paroxysmal movement disorder with episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements). This is accompanied by ataxic symptoms (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset.	Preferred (foundation metadata concept)
A rare paroxysmal movement disorder with onset in childhood or adolescence. The disease has characteristics of paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.	Preferred (foundation metadata concept)
A rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.	Preferred (foundation metadata concept)
A rare partial autosomal monosomy syndrome with characteristics of neonatal hypotonia, prenatal and postnatal growth deficiency, severe feeding difficulties, global developmental delay and intellectual disability, dental anomalies (delayed tooth eruption, delayed loss of primary teeth, dental crowding), recurrent respiratory infections, thrombocytopenia and facial dysmorphism (flat facial profile, medially sparse eyebrows, epicanthal folds, flat nasal bridge and tip, short philtrum). Behavioral abnormalities (ADHD, Asperger syndrome) have also been reported.	Preferred (foundation metadata concept)
A rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia).	Preferred (foundation metadata concept)
A rare partial autosomal monosomy with characteristics of language development delay with childhood apraxia of speech, mild intellectual disability, autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernia and microcephaly.	Preferred (foundation metadata concept)
A rare partial autosomal monosomy with characteristics of mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip, cleft palate, cerebellar and cardiac malformations, psychomotor development delay, attention deficit hyperactivity disorder, autism. Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity and clubfoot, feeding difficulties, failure to thrive.	Preferred (foundation metadata concept)
A rare partial autosomal monosomy with characteristics of weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria.	Preferred (foundation metadata concept)
A rare partial autosomal trisomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).	Preferred (foundation metadata concept)
A rare partial autosomal trisomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities.	Preferred (foundation metadata concept)
A rare partial autosomal trisomy with characteristics of a variable phenotype that includes hypotonia, motor delay, mild to severe intellectual disability, seizures, variable cerebral anomalies, finger/toe syndactyly, fifth finger clinodactyly, strabismus, short neck and dysmorphic facial features.	Preferred (foundation metadata concept)
A rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre and postnatal overgrowth, renal anomalies (for example horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly.	Preferred (foundation metadata concept)
A rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression. The syndrome has characteristics of macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.	Preferred (foundation metadata concept)
A rare partial deletion of the long arm of chromosome 14 with characteristics of ocular anomalies (anophthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations and hearing impairment. Smaller 14q22 deletions may have variable expression.	Preferred (foundation metadata concept)
A rare partial duplication of the long arm of chromosome 14 with characteristics of variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbous nose, micrognathia, sparse hair and eyebrows), congenital heart defects, spasticity and hyperreflexia.	Preferred (foundation metadata concept)
A rare partial duplication of the long arm of chromosome 17 with characteristics of a combination of features of 17p11.2 microduplication syndrome and Charcot-Marie-Tooth disease type 1A. Patients present with infantile onset of global developmental delay, hypotonia, feeding difficulties and failure to thrive, as well as childhood onset of peripheral neuropathy with distal extremity weakness or atrophy, gait impairment, sensory loss, reduced or absent deep tendon reflexes of the ankles and foot deformities. Facial dysmorphism, cardiac and renal anomalies and syringomyelia may also be observed.	Preferred (foundation metadata concept)

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Reference Sets

Reference set descriptor

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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)