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900000000000509007: United States of America English language reference set (foundation metadata concept)


Status: current, estado de definición de concepto necesario pero no suficiente (metadato del núcleo). Date: 31-Jan 2002. Module: módulo identificador para componentes del modelo de SNOMED CT (metadato del núcleo)

Descriptions:

Id Description Lang Type Status Case? Module
2911457018 conjunto de referencias de idioma inglés de acuerdo con la ortografía de Estados Unidos de Norteamérica es sinónimo (metadato del núcleo) Active letras mayúsculas y minúsculas relevantes en todo el término (metadato del núcleo) Latin American Spanish extension module
2911675011 conjunto de referencias de idioma inglés de acuerdo con la ortografía de Estados Unidos de Norteamérica (metadato fundacional) es descripción completa Active letras mayúsculas y minúsculas relevantes en todo el término (metadato del núcleo) Latin American Spanish extension module
2911702016 inglés estadounidense es sinónimo (metadato del núcleo) Active uso de mayúsculas y minúsculas sin relevancia para la totalidad del término (metadato del núcleo) Latin American Spanish extension module
900000000001115012 United States of America English language reference set en sinónimo (metadato del núcleo) Active letras mayúsculas y minúsculas relevantes en todo el término (metadato del núcleo) módulo identificador para componentes del modelo de SNOMED CT (metadato del núcleo)
900000000001116013 US English en sinónimo (metadato del núcleo) Active letras mayúsculas y minúsculas relevantes en todo el término (metadato del núcleo) módulo identificador para componentes del modelo de SNOMED CT (metadato del núcleo)
900000000001117016 United States of America English language reference set (foundation metadata concept) en descripción completa Active letras mayúsculas y minúsculas relevantes en todo el término (metadato del núcleo) módulo identificador para componentes del modelo de SNOMED CT (metadato del núcleo)


1321854 members. Search Members:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
conjunto de referencias de idioma inglés de acuerdo con la ortografía de Estados Unidos de Norteamérica (metadato fundacional) es un[a] conjunto de referencias de lenguaje para el idioma inglés true relación inferida restricción existencial (metadato del núcleo)

Members acceptabilityId
A form of spastic cerebral palsy affecting three limbs; this could be both arms and a leg, or both legs and an arm. In some instances, it has referred to one upper and one lower extremity and the face. preferido
A form of spastic cerebral palsy affecting two limbs; usually the legs are affected more than the arms. preferido
A form of spondyloarthritis in which the predominant symptom is back pain, and where radiographic sacroiliitis might or might not be present. preferido
A form of spondylodysplastic Ehlers-Danlos syndrome (EDS) due to variants in the SLC39A13 gene and characterized by the presence of thin and finely wrinkled skin of the hands and feet, hypermobile distal joints, characteristic facial features (downslanting palpebral fissures, mild hypertelorism, prominent eyes with a paucity of periorbital fat, blueish sclerae, microdontia or oligodontia), muscular hypotonia, associated with significant short stature of childhood-onset, ocular findings (myopia and keratoconus) and, more rarely, vascular complications. Mild radiographic changes were observed, among which platyspondyly is a useful diagnostic feature. preferido
A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B3GALT6 and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, bowing of limbs and congenital or early onset, progressive kyphoscoliosis. Additional features include the typical craniofacial gestalt (prominent forehead, sparse hair, mid-face hypoplasia, blue sclerae, proptosis and abnormal dentition), hyperextensible, soft, thin, translucent and doughy skin, delayed motor and/or cognitive development, characteristic radiographic findings (spondyloepimetaphyseal dysplasia, platyspondyly, anterior beak of vertebral body, short ilia, elbow malalignment and generalized osteoporosis), joint contractures and ascending aortic aneurysm. preferido
A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B4GALT7 and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, and bowing of limbs. Additional features include the typical craniofacial gestalt (mid-face hypoplasia, round, flat face, proptosis and narrow mouth), hyperextensible skin that is soft, thin, translucent and doughy, delayed motor and/or cognitive development, characteristic radiographic findings (such as radio-ulnar synostosis, radial head subluxation or dislocation, metaphyseal flaring and osteopenia) and ocular abnormalities. preferido
A form of therapy aimed at supporting or developing socially valued roles for individuals or groups who are perceived to be of lesser value by the society in which they live. preferido
A form of thoracic outlet syndrome that manifests as unilateral (rarely bilateral) arm pain and cyanosis. The disease occurs in young adults, usually after excessive arm activity. The characteristic symptoms, caused by venous obstruction, are arm swelling, cyanosis and pain. Repetitive arm motion and compression of the subclavian vein in the neck (between the clavicle and the first rib) leads to scar tissue that can predispose to thrombosis due to narrowing of vessels. preferido
A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a partial, quantitative plasmatic deficiency of an otherwise structurally and functionally normal von Willebrand factor (VWF). preferido
A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (VWF). Depending on the type of functional abnormalities, this form is classified as type 2A, 2B, 2M or 2N. preferido
A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII). It is the most severe form of VWD. preferido
A fracture of the articular surface of a bone, produced by a force transmitted from the articular surface of a contiguous bone across the joint and through the articular cartilage to the subchondral trabeculae of the fractured bone. The cartilage itself is not necessarily torn. preferido
A fracture that occurs in proximity to an implant. preferido
A fracture that occurs when the mechanical strength of a bone is reduced to the point at which a stress that would not fracture a healthy bone breaks the weak one. preferido
A frame consisting of 3 or 4 legs which aids a person with walking. Some walking frames come with wheels at the front to help move the frame. The frame is moved by either lifting the entire frame or by tilting the frame off the back legs and onto the front wheels. preferido
A galloping sound on cardiac auscultation because of an abnormally audible fourth heart sound. preferido
A galloping sound on cardiac auscultation because of an abnormally audible third heart sound. preferido
A gamma beta^+^ hereditary persistence of fetal hemoglobin AND beta^0^ thalassemia in cis aceptable (metadato fundacional)
A gamma beta^+^ hereditary persistence of fetal hemoglobin AND beta^0^ thalassemia in cis (disorder) preferido
A gas supplied under pressure which is entirely gaseous at - 50 °C. preferido
A gas supplied under pressure, which is partially liquid (gas over liquid) at -50 °C. preferido
A gas which liquifies at 1.013 bar at a temperature below -150 °C. preferido
A gastroenteral route that begins in the intestinal tract (within the small and large intestines). preferido
A gastroenteral route that begins through a surgically created opening into the gastrointestinal tract. preferido
A gastroenteral route that begins within the esophagus. preferido
A gastroenteral route that begins within the stomach. preferido
A general position for a supernumerary tooth located somewhere other than the midline of the dental arch. preferido
A general term used to refer to any damage to or abnormality of the joint structure or surrounding soft tissue resulting in a limitation of joint movement. preferido
A generalized onset seizure type with a myoclonic jerk leading to an atonic motor component. This type was previously called myoclonic-astatic. A seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. preferido
A generalized onset tonic-clonic epileptic seizure of more than 5 minutes duration. preferido
A genetic cause of hypertension secondary to primary aldosteronism that is not suppressed with dexamethasone. Patients present with an adrenal adenoma that secretes aldosterone. preferido
A genetic condition characterized by hereditary susceptibility to breast and/or ovarian cancer. It can be defined using family history criteria, or through identification of germline pathogenic variants (GPVs) in clinically validated HBOC genes. However, the genetic basis of about half of clinical HBOC is currently unknown or unexplained by single-gene variants, and approximately half of individuals who harbor PVs in HBOC genes do not have a suggestive family history. preferido
A genetic male infertility characterized by azoospermia or oligozoospermia due to chromosome Y microdeletion. preferido
A genetic syndrome characterized by the absence of all four limbs. preferido
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. preferido
A genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM). preferido
A genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia. preferido
A genetically inherited anomaly of glycogen metabolism and a form of glycogen storage disease (GSD) characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves. preferido
A genodermatosis with characteristics of the presence of multiple hamartomas of the hair follicle. It has been described in one family so far. preferido
A gingival route that begins beneath the free margin of the gingivae. preferido
A glycogen storage disease of adults with characteristics of progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia. The prevalence is unknown. More than 50 cases have been described to date in Ashkenazi (in most cases) and non-Ashkenazi Jewish individuals. Presents after the age of 40, with urinary incontinence (indicative of neurogenic bladder) often being the first manifestation. Caused by a mutation in the GBE1 gene, encoding the glucan (1, 4-alpha-) branching enzyme 1 (GBE). preferido
A graft derived from hair-bearing skin. preferido
A graft of small pieces or strips placed apart from each other on the wound or defect. preferido
A graft of the epidermis and less than the entire thickness of the dermis of the skin. preferido
A graft of the epidermis and the entire thickness of the dermis of the skin. preferido
A granulomatous, inflammatory disorder of the eye; reaction to vegetable or insect hairs. preferido
A greater than expected number of suicides occurring either close in time, place or both. preferido
A group of autosomal recessive disorders affecting the formation of functional peroxisomes, with characteristics of sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment and is comprised of the phenotypic variants Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease. The mutations found in 90% of PBD-ZSS patients are in the PEX1, PEX6, PEX10, PEX12 or PEX26 genes. Impaired metabolism results in the accumulation of very-long-chain fatty acids which damage developing neural cells. Accumulation of toxic bile acid intermediates damages the liver. The decreased synthesis of docosahexanoic acid (DHA) and ether phospholipids (plasmalogens) impairs cell membranes. preferido
A group of disorders including ankylosing spondylitis, axial spondylarthritis, spondyloarthritis due to inflammatory bowel disease, and other conditions. They share the common features of inflammation of axial joints, asymmetric oligoarthritis, dactylitis, and enthesitis. preferido
A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. preferido
A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). preferido
A group of epilepsies characterized by age-dependent occurrence of drug responsive focal seizures in otherwise normal children. Seizures are focal motor or sensory with or without impaired awareness and may evolve to bilateral tonic-clonic seizures. Remission usually occurs by puberty. Development and cognition are typically normal. Neurological examination is normal. No significant structural lesions of the brain are present, and presumed genetic factors have an important role. The electroencephalogram (EEG) background activity is normal. Seizure semiology and EEG features are specific for each of the syndromes included in this group. preferido
A group of inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. This group includes biotinidase deficiency and biotin holocarboxylase synthetase deficiency. preferido
A group of rare acute leukemias of ambiguous lineage characterized by the presence of separate populations of blasts of more than one lineage (bilineal), a single population of blasts coexpressing antigens of more than one lineage (biphenotypic), or a combination thereof. The diagnosis relies on immunophenotyping, the T-cell component being characterized by strong expression of cytoplasmic CD3, usually in the absence of surface CD3, the B-cell component expressing CD19, almost always together with CD10, cCD79a, CD22, or PAX5, while the most specific hallmark of the myeloid component is the presence of myeloperoxidase in the blast cytoplasm. preferido
A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus. preferido
A group of rare autosomal recessive forms of ichthyosis clinically characterized by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution for generalized PSS type A (noninflammatory) or B (inflammatory). preferido
A group of rare central nervous system malformations characterized by varying degrees of absence or dysplasia of the derivatives of the prosencephalon (i.e. telencephalon and diencephalon), with an intact cranial vault. The spectrum comprises atelencephaly, the less severe form, in which only the telencephalon is affected, and aprosencephaly, where the diencephalon is also involved. The malformations may occur in an isolated form or in association with other anomalies. preferido
A group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial, or fungal infections, diarrhea and failure to thrive. preferido
A group of rare, genetic, neurodegenerative diseases characterized by an infancy- to childhood-onset of progressive spastic paraplegia (with delayed motor milestones, gait disturbances, hyperreflexia and extensor plantar responses), optic atrophy (which may be accompanied by nystagmus and visual loss) and progressive peripheral neuropathy (with sensory impairment and distal muscle weakness/atrophy in upper and lower extremities). Additional signs may include foot deformities, spinal defects (scoliosis, kyphosis), joint contractures, exaggerated startle response, speech disorders, hyperhidrosis, extrapyramidal signs and intellectual disability. In very rare cases, a variant phenotype with less prominent or absent optic atrophy and/or neuropathy may be observed. preferido
A group of small reddish or purplish spots in skin or mucous membrane as a result of localized hemorrhage. preferido
A grouper concept for annotation attributes that are represented as additional relationships. preferido
A grouper concept for substances that are used in medicinal products for medical treatment, and also psychoactive substances that have few or no legitimate medical uses or that are not legally available to the person using them. preferido
A grouping of primary and secondary sites of somatic dysfunction describing a three-segment complex fundamental to dysfunction in a mobile system. Each adjacent segment, above and below the primary locus, demonstrates opposing asymmetries to that locus. preferido
A grouping term for a collective of languages known as the Altaic languages. preferido
A health examination for a member of a population with limited access to healthcare services, such as those on low income, those from a minority ethnic background or those with a language barrier. preferido
A healthcare professional that possesses expertise in a clinical domain and provides advice on the diagnosis and management of individuals with conditions related to that domain. preferido
A helmet that is worn as protection for the head in the event of a vehicular accident preferido
A hereditary palmoplantar keratoderma with characteristics of the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques. preferido
A heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population. preferido
A heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. Characteristics are platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. The different forms of spondylometaphyseal dysplasia are distinguished by the localization and severity of involvement of the affected metaphyses. preferido
A heterogeneous group of endocrine disorders with characteristics of normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP). PHP-1a, PPHP, and PHP-1b are all due to molecular defects in the same locus of the GNAS (20q13.2-q13.3) gene coding the alpha sub-unit of the stimulatory G protein. PHP can be sporadic or inherited autosomal dominantly with parental imprinting. preferido
A histological subtype of C3 glomerulopathy characterized by C3 deposition in renal tissue in the absence or near-absence of immunoglobulin deposits, in a patient with the classic clinical features of glomerulonephritis and electron microscopic findings of highly electron-dense intra-membranous, osmiophilic deposits. preferido
A history taken by a self-administered questionnaire preferido
A horizontal misalignment in which one eye moves inward, towards the nose, only noticeable when binocular vision is disrupted, such as when one eye is closed or covered. preferido
A horizontal misalignment in which one eye moves outward, away from the nose, only noticeable when binocular vision is disrupted, such as when one eye is closed or covered. preferido
A horizontal streak found on the inner surface of the cheek at the level of the biting plane. It usually extends from the commissure to the posterior teeth and can extend to the inner lip mucosa and corners of the mouth. It is a common finding and most likely associated with pressure, frictional irritation, or sucking trauma from the facial surfaces of the teeth. preferido
A hospital that has an established transplant program and performs transplant surgery. preferido
A hypersensitivity condition of skin or mucous membranes at the site of direct surface contact with irritants or allergens. A general class that includes both immunologic and non-immunologic conditions. preferido
A keratotic cutaneous polyp containing abundant connective tissue. preferido
A landmark point defined as the tip of the bony anterior nasal spine at the inferior margin of the piriform aperture, in the midsagittal plane. preferido
A large organ in the thorax, abdomen, or pelvis preferido
A large, local allergic reaction following a mosquito bite often accompanied by systemic symptoms such as a fever. Symptoms usually occur within hours of the mosquito bite and are caused by an immunologic response to proteins in mosquito saliva. preferido
A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus. preferido
A legal order for a diet regime. preferido
A legal order for a parenteral nutrition infusion. preferido
A legal order for an enteral nutrition infusion via a feeding tube. preferido
A legal order to dispense and possibly prepare a substance or physical object preferido
A lesion as a result of galvanic current in the oral cavity due to the presence of two or more dissimilar metals in dental restorations that are bathed in saliva, or a single metal restoration and two electrolytes, saliva and pulp tissue fluid, thus producing an electrolytic cell and an electric current. When such restorations touch each other, the current may be high enough to irritate the dental pulp and cause sharp pain. The anodic restoration or areas of a restoration are subject to electrolytic corrosion. preferido
A less aggressive and self-limited pathologic process that can develop without any obvious eliciting factor and is characterized by exposed necrotic bone involving the lingual mandible approximately at the level of the mylohyoid ridge. preferido
A less common type of cerebral palsy defined by decreased and/or fluctuating muscle tone; multiple forms of non-spastic cerebral palsy are each characterized by particular impairments; one of the main characteristics of non-spastic cerebral palsy is involuntary movement. Subtypes include ataxic and dyskinetic forms. preferido
A lethal form of pontocerebellar hypoplasia with characteristics of prenatal onset of microcephaly, hypoplasia of the cerebellum, brainstem, and spinal cord, dysmorphic craniofacial features such as sloping forehead and micrognathia, and multiple contractures. Supratentorial atrophy has also been reported. preferido
A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis. preferido
A life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toenail dystrophy and sparse hair. preferido
A life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. It may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of the disorder that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic purpura fulminans. preferido
A ligation where the surgical suture serves as a ligature. preferido
A limb girdle muscular dystrophy caused by caveolin-3 deficiency with characteristics of weakness in limb-girdle muscles, calf muscle hypertrophy and lack of respiratory and cardiac involvement. preferido
A limb-girdle muscular dystrophy with characteristics of skeletal and cardiac myopathy with cardiac conduction defects and muscle cytoplasmic inclusions. preferido
A limited form of Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum characterized by destruction and detachment of the skin epithelium, involving less than 10% of the body surface area, and mucous membranes. Onset usually occurs 4-28 days after administration of the causal medication and is most frequently associated with anticonvulsants, antibacterial sulfonamides, allopurinol, nevirapine, and oxicams (non-steroidal anti-inflammatory drugs), but many other medications have also been implicated. The disease is not induced by medication in 15% of cases. Histology is characterized by an epidermal necrolysis. Multiple disabling long-term sequelae (especially cutaneous, ocular and psychological) are frequent. preferido
A line connecting the anterior nasal spine to the posterior nasal spine. preferido
A line connecting the midpoint of the sella turcica (Sella) to the most anterior inferior point of chin (Gnathion). preferido
A line extending from a constructed point representing the intersection of the inferior surface of the cranial base and the posterior outlines of the mandibular condyles to the most posterior inferior point on the outline of the angle of the mandible. preferido

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Reference Sets

Latin American Spanish language reference set

Chile language reference set (foundation metadata concept)

conjunto de referencias descriptivas de la estructura de otros conjuntos de referencias

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