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

concepto de SNOMED CT\componente del modelo de SNOMED CT\concepto de metadato fundacional (metadato fundacional)\conjunto de referencias\conjunto de referencias de lenguaje\conjunto de referencias de lenguaje para el idioma inglés\conjunto de referencias de idioma inglés de acuerdo con la ortografía de Estados Unidos de Norteamérica (metadato fundacional)

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:

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 rare primary bone dysplasia characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.	preferido
A rare primary bone dysplasia characterized by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations.	preferido
A rare primary bone dysplasia characterized by micromelia with rhizomelic shortening, metaphyseal widening of the long bones, brachydactyly, small scapulae, micrognathia and thoracic insufficiency requiring tracheostomy and ventilation, and severe myopia and sensorineural hearing loss. Further dysmorphic craniofacial features include frontal bossing, proptosis, epicanthal folds, short nose, flat nasal bridge, anteverted nares, midfacial retrusion, and cleft palate.	preferido
A rare primary bone dysplasia characterized by multiple joint dislocations, in particular in hips and knees present at birth, but the elbows, wrists, ankles, and patellae can also be affected; severe joint laxity, scoliosis, slender fingers with distal tapering, and growth deficiency developing in the post-natal period resulting in short stature. Gracile metacarpals and metatarsals, delayed bone age with poorly ossified carpal and tarsal bones, metaphyseal and epiphyseal dysplasia, slender ribs, and spondylar dysplasia are radiographical signs. Intelligence is usually normal.	preferido
A rare primary bone dysplasia characterized by multiple, small, round to ovoid osteosclerotic foci with a predilection for the epiphyses and metaphyses of long tubular bones as well as the pelvis, scapula, carpal, and tarsal bones. The condition is usually clinically silent and discovered only incidentally, although some patients may experience mild articular pain with or without joint effusion. Bone strength is normal.	preferido
A rare primary bone dysplasia characterized by osteosclerosis localized predominantly to the metaphyses and epiphyseal margins of the appendicular bones and metaphyseal equivalents of the axial bones, as well as the vertebral endplates, costal ends, and margins of the flat bones. The skull is usually unaffected. The condition is associated with developmental delay and hypotonia. Seizures and spastic paraplegia have also been reported. Serum alkaline phosphatase and urinary pyridinoline and deoxypyridinoline levels may be elevated.	preferido
A rare primary bone dysplasia characterized by reduced bone mineral density (defined as a Z score below -2.0), vertebral compression fractures, and recurrent peripheral fractures caused by low-impact trauma, leading to bone pain and impaired mobility. Patients typically become symptomatic in childhood or adolescence.	preferido
A rare primary bone dysplasia characterized by severe intrauterine and postnatal growth retardation and short stature in association with craniofacial dysmorphism (such as large forehead, triangular face, low-set ears, and micro-retrognathism) and osteochondrodysplastic lesions. Radiographic findings include epiphyseal maturation delay, abnormal metaphyses, a narrow thorax, small pelvis, and short and broad metacarpal bones and phalanges. There have been no further descriptions in the literature since 1996.	preferido
A rare primary bone dysplasia characterized by severe spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability and Leber congenital amaurosis. Brain anomalies (including delayed myelinization, white matter hyperintensity, hypomyelinating leukoencephalopathy, cerebral and cerebellar hypoplasia/atrophy), hypotonia, ataxia, dysmorphic facial features (including deep nasal bridge and large mouth) and irregular dentition were also reported.	preferido
A rare primary bone dysplasia characterized by the association of multiple epiphyseal dysplasia with macrocephaly and dysmorphic facial features (such as frontal bossing, hypertelorism, flat malar region, low-set ears, and short neck). Patients are of normal stature and present with joint swelling and genu valgum. Additional reported manifestations include clinodactyly, spindle-shaped fingers, and pectus excavatum.	preferido
A rare primary bone dysplasia characterized by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock.	preferido
A rare primary bone dysplasia characterized by the association of spondylometaphyseal dysplasia, generalized joint laxity, and dentinogenesis imperfecta. Main skeletal abnormalities comprise short stature, narrow chest, scoliosis, mesomelic limb shortening, and brachydactyly. Radiographic features include severe metaphyseal irregularities of the tubular bones, platyspondyly with coronal clefts, cone-shaped epiphyses of the hands, square iliac wings, and coxa valga. Additional extraskeletal manifestations like pulmonary hypoplasia, cystic renal disease, and non-obstructive hydrocephalus have also been reported.	preferido
A rare primary bone dysplasia disorder characterized by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. No acetabular spurs nor phalangeal cone-shaped epiphyses are present, and osseous manifestations tend to normalize with age. There have been no further descriptions in the literature since 1988.	preferido
A rare primary bone dysplasia disorder characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant.	preferido
A rare primary bone dysplasia disorder characterized by normal birth length with early postnatal growth deficiency resulting in severe disproportionate short stature (with short trunk and limbs), severe genu varum, flexion contractures in the hips and lumbar hyperlordosis. Radiological findings reveal platyspondyly with central indentation of vertebral endplates, progressive and severe epimetaphyseal abnormalities that primarily affect the lower limbs and include very small, irregular proximal femoral and knee epiphyses, severe coxa vara, delayed ossification of proximal femoral epiphyses, and irregular distal femoral and proximal tibial metaphyses.	preferido
A rare primary bone dysplasia disorder characterized by short stature with severe shortening of limbs, genu vara deformity and enlarged joints with movement limitation particularly affecting the hip joints. Radiological findings show coxa vara, generalized metaphyseal irregularities of the tubular bones (including cupping, fraying and splaying), which are more severe in the femur and forearm bones than the metacarpals and phalanges and vertebral abnormalities including ovoid vertebral bodies with anterior rectangular protrusions and severe platyspondyly.	preferido
A rare primary bone dysplasia disorder with characteristics of infantile-onset, progressive, multiple skeletal deformities in association with slowly progressive central and peripheral neurodegeneration. Patients present short stature, coarse facies, psychomotor regression and cognitive impairment. Imaging shows abnormally shaped vertebral bodies, small, flat epiphyses, and widened metaphyses, as well as cerebral and cerebellar atrophy and progressive axonal-hypomyelinating neuropathy.	preferido
A rare primary bone dysplasia due to matrilin-3 variants and characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.	preferido
A rare primary bone dysplasia with characteristics of cone-shaped epiphyses of the phalanges, hyperextensibility and hyper-flexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.	preferido
A rare primary bone dysplasia with decreased bone density disorder characterized by multiple doughnut-shaped hyperostotic or osteosclerotic calvarial lesions (manifesting with cranial lumps) associated with numerous pathologic fractures, elevated serum alkaline phosphatase levels and osteopenia.	preferido
A rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops. Cortical thickening throughout the skeleton, particularly in the long bones and ribs, brachycephaly, severe brachydactyly and craniofacial abnormalities are reported.	preferido
A rare primary bone dysplasia with increased bone density characterized by slowly progressive endosteal hyperostosis and osteosclerosis exclusively of the skull base and the calvaria, resulting in entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII. First symptoms often appear during the second decade of life and include disturbances in smell, vision, facial sensation and expression, hearing, and balance, as well as headaches due to increased ocular and intracranial pressure. After the fourth decade, radiological progression is minimal, although decreased intracranial volume can lead to death in severe cases.	preferido
A rare primary bone dysplasia with multiple joint dislocations characterized by stunted stature, articular hypermobility and spinal malalignment resulting in severe progressive kyphosis. Joint dislocations include bilateral dislocation of the radial heads with elbow contractures, feet (bilateral talipes equinovarus) and congenital dislocations of the hip and genu valgus. Joint laxity is particularly observed in fingers. Spinal changes include moderate platyspondyly with anterior projection of the vertebral bodies. Facial features of oval face with a flattened nasal bridge, button nose, long upper lip, prominent eyes and blue sclera are characteristic but variable. Patients may also present mild skin extensibility, spatulate terminal phalanges, lip and palate clefts, micrognathia and structural cardiac malformations.	preferido
A rare primary congenital hypothyroidism characterized by a markedly reduced T4/T3 ratio, normal levels of thyroid-stimulating hormone, and a highly variable clinical phenotype, which most commonly includes decreased metabolic rate, bradycardia, chronic constipation, neurodevelopmental delay, and delayed bone age and skeletal abnormalities. Dysmorphic craniofacial features, such as macrocephaly, broad face, flat nose, large tongue, and thick lips, have also been reported. Some patients may show only minimal signs and symptoms.	preferido
A rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare.	preferido
A rare primary germ cell tumor of central nervous system characterized by a lesion typically in the region of the pineal gland and the suprasellar compartment, composed of cytotrophoblastic elements and multinucleated syncytiotrophoblastic giant cells. Ectatic stromal vascular channels, blood lakes, and extensive hemorrhagic necrosis are the rule. The tumor usually arises in the second decade of life and predominantly in males. Clinical presentation depends on location and size and includes signs of increased intracranial pressure, visual disturbances, and endocrine abnormalities. Prognosis is generally poor.	preferido
A rare primary glomerular disease characterized by the association of congenital nephrotic syndrome, early onset renal failure and ocular anomalies with microcoria and severe neurodevelopment deficits.	preferido
A rare primary headache disorder characterized by unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing).	preferido
A rare primary immunodeficiency characterized by a severe, potentially life-threatening course of influenza A infection with acute respiratory distress. Production of type I and III interferons in response to influenza virus is very low, while other immunological abnormalities are absent and no further unusual viral infections occur.	preferido
A rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype.	preferido
A rare primary immunodeficiency characterized by increased susceptibility to infections with candida albicans and weakly pathogenic mycobacteria, such as mycobacterium bovis. Patients present in infancy with chronic mucocutaneous candidiasis of varying severity, disseminated mycobacterial disease, absence of palpable axillary and cervical lymph nodes, reduced thymus size, and variable hepatosplenomegaly. The immunological phenotype comprises mild T-cell lymphopenia, absence of type 1 natural killer T-cells and mucosal-associated invariant T-cells, and low levels of type 3 innate lymphoid cells.	preferido
A rare primary immunodeficiency characterized by increased susceptibility to intracellular bacterial and viral infection, with or without increased serum IgE. Clinical manifestations are highly variable, depending on the infection type and location, and can include recurrent otitis, sinusitis, pulmonary and cutaneous infections, meningitis and internal abscesses.	preferido
A rare primary immunodeficiency characterized by infantile onset of generalized lymphadenopathy, splenomegaly, and lymphocytosis, with excessive polyclonal expansion of B-cells. Patients present recurrent infections and impaired T-cell and antibody responses, while overt autoimmune manifestations are usually absent. Occurrence of B-cell malignancy later in life has been reported.	preferido
A rare primary immunodeficiency characterized by recurrent atypical mycobacterial infections, accompanied by relatively minor viral infections, on an immunological background of reduced induction of expression of interferon-regulated genes and dysregulated cytokine production, as revealed by laboratory studies. Global developmental delay and occurrence of non-hematopoietic malignancy at a young age have been reported in association.	preferido
A rare primary immunodeficiency disorder characterized by autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset, severe, recurrent bacterial infections.	preferido
A rare primary immunodeficiency disorder characterized by the association of alopecia areata totalis and antibody deficiency (congenital agammaglobulinemia or incomplete antibody deficiency syndrome), manifesting with recurrent infections. There have been no further descriptions in the literature since 1976.	preferido
A rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV, including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens.	preferido
A rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titers in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes.	preferido
A rare primary lymphedema characterized by a highly variable lymphatic phenotype ranging from severe lymphatic-related hydrops fetalis, which may cause perinatal demise or fully resolve to become completely asymptomatic, to a mild presentation in older patients with persistent varicose veins, peripheral edema, and impaired lymph drainage in the lower limbs. Atrial septal defect has been described in association and may be the only anomaly in some patients.	preferido
A rare primary lymphedema characterized by bilateral, painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet, dysplastic and upslanting toenails due to edema of the nailbed, and subtle dysmorphic facial features (such as high forehead, hypertelorism, depressed nasal bridge, mild bilateral ear dysplasia, and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphedema and significantly more uptake of tracers on lymphoscintigraphy.	preferido
A rare primary lymphedema characterized by extensive, multisegmental lymphedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal nevi and capillary malformations have also been reported.	preferido
A rare primary myoclonus characterized by progressive, involuntary, irregular, clonic or tonic contractions of the muscles innervated by the facial nerve (cranial nerve VII). The symptoms are typically strictly unilateral, mostly persist during sleep, and often occur in the region of the orbicularis oculi muscle first and gradually spread to other parts of the affected half of the face as the disease progresses. Both familial and acquired forms are reported.	preferido
A rare primary osteolysis disorder characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure.	preferido
A rare primary torsion dystonia characterized by focal or segmental dystonia with onset either in the cranial-cervical region or in the upper limbs. Age of onset varies between 5 years and adulthood, with a mean age of onset of 16 years. Clinical manifestations are generally mild and slowly progressive.	preferido
A rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, with characteristics of retinal atrophy and retinal detachment leading to loss of central vision, then peripheral vision, and eventually blindness.	preferido
A rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.	preferido
A rare pulmonary disease characterized by primary or non bacteremic pneumonia most frequently arising in an intensive care setting, or bacteremic pneumonia, which is typically associated with neutropenia. Chronic lower respiratory tract infection with development of episodes of pneumonia is common in patients with cystic fibrosis. Acute infections are potentially life-threatening. Patients present with fever, chills, dyspnea, cyanosis, productive cough, as well as signs of severe systemic toxicity. Alveolar hemorrhage, necrosis, and, eventually, cavity formation, are commonly seen.	preferido
A rare pulmonary neuroendocrine tumor, most often presenting in women over 50 years and non-smokers, characterized by long-lasting cough (>10 years), and less frequently by dyspnea or wheezing. A proportion of patients are asymptomatic, the disease being an incidental finding during routine check-ups. Diffuse pulmonary nodules and mosaic attenuation can be detected by CT-scan however only histopathology can confirm the diagnosis detecting a multifocal hyperplasia of pulmonary neuroendocrine cells (carcinoid tumorlets). Ventilatory dysfunction can be obstructive and less often restrictive, mixed or non-specific. Symptoms can progress slowly but sometimes lead to respiratory failure. It is considered as a precursor for pulmonary carcinoid tumor.	preferido
A rare punctate palmoplantar keratoderma characterized by multiple small, round to oval or rhomboid, yellowish, hyperkeratotic papules and plaques most commonly localized to the palms of the hands and soles of the feet, potentially extending to the dorsum of the hands and feet in severe cases. Histopathological analysis shows hyperkeratosis, epidermal hypertrophy, and fragmentation and rarefaction of elastic fibers. The condition can be sporadic or familial.	preferido
A rare pure motor axonal form of Guillain-Barré syndrome (GBS).	preferido
A rare pyruvate metabolism disorder characterized by neonatal onset of a mitochondrial encephalopathy with global developmental delay and the biochemical characteristics of lactic acidosis and increased serum pyruvate with normal lactate/pyruvate ratio. Additional reported manifestations include epilepsy, peripheral neuropathy, hypotonia, nystagmus, extensor plantar responses, hepatomegaly, and craniofacial dysmorphism (such as progressive microcephaly, epicanthus, long philtrum, and thin upper lip).	preferido
A rare radiation-induced disorder characterized by impairment of the peripheral nervous system at the level of the brachial or lumbosacral plexus following radiation therapy. Onset of symptoms can occur between several months up to decades after the last dose of radiation. Patients with radiation-induced brachial plexopathy typically present with mostly unilateral progressive paresthesia, followed by weakness, atrophy, and pain. Symptoms in radiation-induced lumbosacral plexopathy include more variable combinations of numbness, paresthesia, pain, and weakness, and are more often bilateral.	preferido
A rare radiation-induced disorder resulting from whole body exposure to large doses of penetrating radiation (>0.7 Gray) within a very short period of time (usually minutes) and characterized by bone marrow syndrome with pancytopenia (mild symptoms of which may occur already at 0.3 Gray), gastrointestinal syndrome resulting in mostly fatal infection, dehydration, and electrolyte imbalance (occurring at doses >10 Gray), and cardiovascular/central nervous system syndrome with watery diarrhea, convulsions, coma, and death within three days of exposure (occurring at doses >50 Gray). The syndrome develops in four clinical stages (prodromal/latent/manifest illness/recovery or death) of variable duration.	preferido
A rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) types I and II (RCM/RHM type 1; RCM/RHM type 2). In RCM type 1, cyanosis from birth is the only symptom. RCM type 2 is much more severe; the cyanosis is accompanied by neurological dysfunction (with intellectual deficit, microcephaly, growth retardation, opisthotonus, strabismus and hypertonia), which usually becomes evident during the first four months of life. RCM type 1 is caused by mutations of the CYB5R3 gene (22q13.31-qter) encoding the NADH-cytochrome b5 reductase (Cb5R) and Cb5R deficiency is limited to the erythrocytes. RCM type 2 is caused by global loss of Cb5R function. RCM type 1 is generally associated with missense mutations, whereas RCM type 2 is more commonly associated with truncating mutations, splicing errors or mutations that lead to disruption of the active site.	preferido
A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies.	preferido
A rare renal disease characterized by hypokalemic metabolic alkalosis secondary to a tubulopathy, hypomagnesemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy.	preferido
A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females.	preferido
A rare renal disease characterized by thrombotic microangiopathy developing de novo in kidney transplant recipients with no evidence of occurrence of the disease prior to transplantation. Precipitating factors include antibody-mediated rejection, immunosuppressive medication, viral infections, and genetic abnormalities in the complement cascade, among others. The condition most commonly occurs within the first 3-6 months post-transplantation. Clinical presentation is highly variable and ranges from a limited form confined to the kidney with relatively good prognosis to a systemic variant consisting of the classic triad of thrombocytopenia, microangiopathic hemolytic anemia, and acute kidney injury.	preferido
A rare renal disease occurring in the setting of a systemic IgG4 related disease (IgG4-RD). The disorder is characterized by a fibrosing tubulointerstitial nephritis consisting of predominantly IgG4+ plasma cells with/without glomerulonephritis, retroperitoneal fibrosis and hydronephrosis.	preferido
A rare renal tubular disease characterized by hypomagnesemia due to renal magnesium wasting, recurrent generalized seizures, mild to moderate intellectual disability, speech delay and obesity due to CNNM2 mutations. Most patients also manifest motor skill defects and hyperkinesia. Majority of the affected individuals do not exhibit brain anomalies.	preferido
A rare renal tubulopathy secondary to urinary tract infection (UTI) and/or urinary tract malformation (UTM) characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis, hyperkalemia and inappropriately high serum aldosterone concentration and clinically manifesting as dehydration, vomiting, and poor oral intake.	preferido
A rare renal tumor characterized by a benign epithelial (metanephric adenoma), biphasic (metanephric adenofibroma) or renal stromal (metanephric stromal tumor) neoplasm. Metanephric adenoma mostly occurs in the fifth to sixth decade of life with distinct female predominance. It may be asymptomatic or present with abdominal pain, hematuria, and/or polycythemia. Metanephric adenofibroma has been described from infancy to young adulthood, potentially causing polycythemia or hematuria. Metanephric stromal tumor typically presents in infancy or childhood as an abdominal mass, sometimes manifestations of extrarenal vasculopathy such as hypertension or hemorrhage.	preferido
A rare respiratory disorder characterized by major reduction of diaphragmatic contractile force together with fiber atrophy in the diaphragm and other respiratory muscles as a consequence of invasive mechanical ventilation. Reduction of diaphragmatic contractile force may be observed even within hours after intubation. The condition can increase weaning time and affects weaning outcome, mortality, and long-term clinical outcomes.	preferido
A rare retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).	preferido
A rare retinal vasculopathy disease characterized by idiopathic retinal vasculitis (IRV), aneurysmal dilations (A) at arteriolar bifurcations, and neuroretinitis (N), which if untreated progresses to peripheral capillary non-perfusion, retinal neovascularization, and macular exudation, leading to severe, bilateral vision loss.	preferido
A rare rodent-borne, potentially severe, hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations.	preferido
A rare scleritis characterized by severe ocular inflammation of sclera associated with an underlying systemic inflammatory condition, most often rheumatoid arthritis, granulomatosis with polyangiitis, but also seronegative spondyloarthropathies, vasculitides and systemic lupus erythematosus. Ocular presentation is a tender or painful, violet-blueish eye, with injection of deep scleral vessels. It can be unilateral or bilateral. Immune-mediated scleritis is more often granulomatous and/or necrotizing. Systemic clinical signs depend on the underlying disease.	preferido
A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.	preferido
A rare secondary neonatal autoimmune disease characterized by generalized weakness, severe hypotonia, absent or reduced deep tendon reflexes, and highly elevated serum creatine kinase levels presenting in the neonatal period. Perifascicular atrophy in the presence of a diffuse perivascular inflammatory cell exudate is observed on muscle biopsy.	preferido
A rare secondary neonatal autoimmune disease characterized by neonatal onset of erythematous skin lesions with a linear appearance that gradually become indurated and hyperpigmented and progressively present skin atrophy. Positive serum antibodies (in particular antinuclear antibodies and/or rheumatoid factor) may be associated.	preferido
A rare severe combined immunodeficiency characterized by T-cell lymphopenia and absent T-cell proliferative responses, and normal B-cell and natural killer cell counts. Patients present in the first months of life with severe recurrent infections, failure to thrive, hematologic autoimmune disorders, and/or lymphoproliferation with splenomegaly.	preferido
A rare severe neurodegenerative disorder that is considered one of the phenocopies of Huntington Disease (HD) affecting patients of African descent and characterized by a triad of movement (chorea, oculomotor, parkinsonism), psychiatric (prominently sadness, irritability and anxiety), and cognitive abnormalities (early cognitive decline and subcortical-like dementia).	preferido
A rare sex-chromosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization.	preferido
A rare sex-chromosome anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features, and a male phenotype with infertility due to azoospermia.	preferido
A rare skeletal disorder characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999.	preferido
A rare skeletal dysplasia characterized by disproportionate short stature with short limbs, small hands and feet, and midface hypoplasia with small nose. Mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone shaped phalangeal epiphyses are characteristic features. In adulthood, premature spondylosis and degenerative joint disease develop in some patients. Frequent respiratory infections with prolonged cough and inspiratory stridor, consistent with laryngomalacia, can also be present. Intelligence, dentition, hearing and visual acuity are not affected.	preferido
A rare skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones).	preferido
A rare skeletal dysplasia characterized by peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible in individuals with a male karyotype.	preferido
A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.	preferido
A rare skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.	preferido
A rare skin disease belonging to the spectrum of autoinflammatory syndromes characterized by the triad of pyoderma gangrenosum (PG), suppurative hidradenitis (SH) and acne.	preferido
A rare skin disease characterized by a hamartomatous epidermal lesion presenting as a linear array of verrucous, hyperkeratotic papules that often coalesce into plaques and are formed along the lines of Blaschko. The condition is associated with involvement of other organ systems, mainly brain, eye, and skeletal system. It is the result of mosaic post-zygotic mutations and most commonly presents at birth, but may occur anytime during childhood, rarely also in adulthood.	preferido
A rare skin disease characterized by non-infectious eosinophilic infiltration of the hair follicles. Patients present with chronically recurrent crops of itchy follicular papulo pustules with peripheral extension and central clearing. Small papules tend to enlarge and coalesce into large plaques. The lesions favor the face and trunk, although the extremities can also be involved. Laboratory analysis may show peripheral leukocytosis and eosinophilia, while, clinically, systemic involvement is not evident.	preferido
A rare skin disease characterized by transient wrinkling of the skin, edema, formation of whitish papules, pruritus, burning sensation, or pain, on the palms and/or soles in response to contact with water. Duration of exposure and water temperature affect the rate of development and intensity of the lesions. The condition is more common in females than in males and frequently occurs in patients with cystic fibrosis.	preferido
A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992.	preferido
A rare skin disorder characterized by the co-occurrence of sebaceous nevi with aplasia cutis congenita located directly adjacent or in close proximity and ocular abnormalities including limbal dermoids and coloboma of the conjunctiva.	preferido
A rare skin hamartoma characterized by at least one pigmented skin lesion present at birth of more than 20 cm (large congenital melanocytic nevus; LCMN) or 40 cm (giant; GCMN) projected adult diameter. The primary lesion is composed of mutated melanocytes and often locally disorganized epidermal annexes or dermis, and presents with an elevated risk of malignant transformation to melanoma or, more rarely, other neoplasms in skin or central nervous system.	preferido
A rare slowly progressive autosomal recessive syndromic cerebellar ataxia characterized by late-onset cerebellar dysfunction (including gait and limb ataxia, nystagmus, and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex), and axonal sensory neuropathy. Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy.	preferido
A rare soft tissue tumor characterized by a benign subcutaneous lesion composed of oval-to-spindle shaped myoid appearing cells with a tendency for concentric perivascular growth. The tumor usually presents as a painless, slowly growing nodule, which may be solitary or appear as multiple lesions, which then arise metachronously and usually involve a particular anatomic region. Recurrence after surgical excision may occur in poorly circumscribed tumors. Malignancy is very rare.	preferido
A rare soft tissue tumor characterized by a compressive mass located in the mediastinum and/or pleura and lung, including prominent lymph node involvement, histologically poorly differentiated and frequently showing rhabdoid features. Loss of SMARCA4 is typically accompanied by SMARCA2-deficiency. Presenting symptoms include dyspnea, cough, chest pain, or dysphagia, among others. The tumors are aggressive with limited response to chemotherapies, rapid local progression, high recurrence rate after surgical resection, and short median survival times. There is a strong association with smoking.	preferido
A rare solid tumor like condition seen in young women, characterized by an accumulation of fluid within the ovarian stroma separating normal follicular structures.	preferido
A rare spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).	preferido
A rare spondylodysplastic syndrome characterized by camptodactyly, cervical platyspondyly, and variable degrees of thoracic scoliosis. There have been no further descriptions in the literature since 1995.	preferido
A rare spondyloepimetaphyseal dysplasia characterized by severe short-limb short stature beginning prenatally, joint hypermobility, dental abnormalities, dysmorphic facial features (including hypertelorism, midface hypoplasia, macroglossia, and prognathism), and other skeletal anomalies (such as atlantoaxial subluxation causing compression of the spinal cord, kyphoscoliosis, hip dislocation, or rocker-bottom feet). Mild intellectual disability may also be present.	preferido
A rare spondyloepiphyseal dysplasia characterized by progressive joint contractures with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Patients are of normal height and present with gait problems, joint pain, and enlarged joints with joint restriction and contractures. Radiological features include generalized platyspondyly, hypoplastic ilia, epiphyseal flattening with metaphyseal splaying of the tubular bones, and broad, elongated femoral necks with marked coxa valga. Histopathologic examination of cartilage shows PAS-positive cytoplasmic inclusion bodies in chondrocytes.	preferido
A rare sporadic arthrogryposis syndrome with characteristics of multiple congenital contractures presenting in a very specific pattern. It is typically symmetric, involving all four limbs, with internally rotated shoulders, fully extended and fixed elbows, the wrists fixed in flexion, partially flexed fingers, hips fixed in flexion or extension, adducted or abducted and sometimes dislocated. The knees may be fixed in extension or flexion and the feet are usually in severe equinovarus position. The jaw and trunk are relatively spared. Normal limb muscle tissue is replaced by fatty, fibrous tissue.	preferido
A rare sterol biosynthesis disorder characterized by microcephaly, bilateral congenital cataract, mild developmental delay, growth delay with short stature, psoriasiform dermatitis of variable severity, and immune dysregulation. Behavioral disorder, joint contractures, and arthralgia have also been described.	preferido
A rare sterol metabolism disorder characterized by increased LDL cholesterol serum levels (which are resistant to treatment with 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors), hypertriglyceridemia, and decreased rate of bile acid excretion, resulting from cholesterol 7alpha-hydroxylase deficiency. Premature gallstone disease and/or premature coronary and peripheral vascular disease are frequently associated.	preferido
A rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck, with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).	preferido
A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients.	preferido
A rare subtype of Joubert syndrome (JS) and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease.	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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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)