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 a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and progressive, proteinuric steroid-resistant nephropathy.	preferido
A rare acid sphingomyelinase deficiency characterized by mild to massive hepatosplenomegaly, hypersplenism leading to thrombocytopenia, interstitial lung disease, dyslipidemia and central nervous system manifestations (including developmental delay, intellectual disability and ataxia). Some affected individuals may present with coarse facial features.	preferido
A rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoiesis and megakaryopoiesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms.	preferido
A rare acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection.	preferido
A rare acquired eye disease due to long-term exposure to chloroquine or hydroxychloroquine with slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss.	preferido
A rare acquired immunodeficiency disorder characterized by the appearance of susceptibility to disseminated opportunistic infections (in particular, disseminated nontuberculous mycobacterial infection, salmonellosis, penicillosis, and varicella zoster virus infection) in previously healthy (HIV-negative) adults, associated with the presence of acquired autoantibodies to interferon gamma. Typical clinical manifestation includes lymphadenopathy (cervical or generalized), fever, weight loss and/or reactive skin lesions.	preferido
A rare acquired motor neuron disease with characteristics of an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period.	preferido
A rare acquired neurological disease with characteristics of encephalopathy associated with elevated antithyroid antibodies, in the absence of other causes. Clinical presentation varies from minor cognitive impairment to status epilepticus and coma, and frequently includes seizures, confusion, speech disorder, memory impairment, ataxia and psychiatric manifestations.	preferido
A rare acquired peripheral neuropathy characterized by paresis of the supraspinatus, infraspinatus, deltoid, and biceps muscles (in C5-C6 injury), wrist and finger extensor muscles (C7 injury), or impaired hand function (C8-Th1 injury) on the affected side due to a traction lesion of the brachial plexus during delivery. The upper trunk of the brachial plexus is most commonly affected, while isolated injury to the lower trunk is very rare. Potential sequelae of brachial plexus injury are muscle atrophy, pain, sensory deficits, and secondary deformities.	preferido
A rare acquired skeletal muscle disease characterized by infiltration of the epimysium, perimysium, and perifascicular endomysium by macrophages with crystal inclusions composed of aluminum salts at the site of a previous vaccination (most commonly the deltoid muscle). Muscle necrosis is typically absent. Patients may present with myalgias, arthralgias, muscle weakness, chronic fatigue, asthenia, fever, and cognitive dysfunction. Signs and symptoms usually develop slowly over several months.	preferido
A rare acquired skin disease characterized by benign proliferation of mature plasma cells with a typical triad of cutaneous lesions, polyclonal hypergammaglobulinemia, and superficial lymphadenopathy, without an apparent underlying cause. The skin lesions consist of multiple round-to-oval, red-to-dark-brown macules, papules, and plaques most commonly found on the trunk, but also the face, neck, and axillae.	preferido
A rare acrofacial dysostosis characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997.	preferido
A rare acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beaked nose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype.	preferido
A rare acute leukemia of ambiguous lineage characterized by clonal proliferation of primitive hematopoietic cells, primarily in the bone marrow and blood, lacking lineage-specific markers and detectable genotypic alterations. The patients present with leukocytosis, anemia, variable platelet count and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (lymphadenopathy, splenomegaly, hepatomegaly).	preferido
A rare acute myeloid leukemia (AML) with recurrent genetic anomaly characterized by the presence of bone marrow and peripheral blood myeloblasts with features ranging from those of minimal differentiation to granulocytic maturation, demonstrating t(9;22)(q34.1;q11.2) or molecular genetic evidence of BCR-ABL1 fusion. Evidence of chronic myeloid leukemia (CML) is absent. Patients most commonly present with leukocytosis with blast predominance and variable anemia and thrombocytopenia. Splenomegaly is less frequent and peripheral blood basophilia lower than in patients with myeloid blast transformation of CML. The disease occurs primarily in adults, and response to traditional AML therapy or tyrosine kinase inhibitor therapy alone is typically poor.	preferido
A rare adrenal Cushing syndrome characterized by bilateral benign adrenal macronodules (>1 cm) that potentially produce autonomously variable levels of cortisol excess. Although in most cases are ACTH-independent, non-suppressed ACTH levels have been described.	preferido
A rare adrenocortical nodular disease characterized by bilateral, multiple micronodules (<1 cm), typically associated with endogenous Cushing syndrome, that occurs predominantly in children and young adults (females in majority). Pigmentation and inter-nodular adrenal cortical atrophy (histological findings present in primary pigmented nodular adrenocortical disease) are generally absent.	preferido
A rare adrenocortical nodular disease characterized by increased to normal sized adrenal glands containing multiple small (less than 1 cm in diameter) cortical pigmented (lipofuscin) nodules, surrounded by internodular adrenocortical atrophy. It is typically associated with the development of a form of adrenal Cushing syndrome (CS). Rarely, it has been associated with adrenal macronodules. Whilst PRKAR1A variants are associated with CNC (Carney complex), the mutation c.709-7del6 is mostly associated with i-PPNAD. Other mutations associated with i-PPNAD include PRKACA (germline copy-number gains), PDE11A and PDE8B genes, although these are rare.	preferido
A rare aggressive B-cell non-Hodgkin lymphoma characterized by a rearrangement in MYC and BCL2 and/or BCL6 (so-called double-hit or triple-hit lymphoma). The category includes double-hit cases with features intermediate between diffuse large B-cell lymphoma (DLBCL) and Burkitt lymphoma, blastoid cases with a double-hit, and cases with a DLBCL, not otherwise specified, morphology with a double-hit. It refers only to de novo cases, not to lymphomas with a history of pre-existing or coexistent indolent lymphoma. Patients typically present with widespread disease, including involvement of lymph nodes, bone marrow, and central nervous system.	preferido
A rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern KwaZulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short stature and brachydactyly have been reported in a few patients with MJD.	preferido
A rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. There have been no further descriptions in the literature since 1988.	preferido
A rare and severe chronic disease characterized by recurrent chronic eczema mainly affecting seborrheic areas, a generalized fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent Staphylococcus aureus or beta-hemolytic Streptococcus infections, thought to be a result of HTLV-1-induced immunosuppression.	preferido
A rare and severe inborn metabolic disease characterized clinically by the association of severe-to-profound neurodevelopmental impairment, severe visual impairment, ante-postnatal growth impairment, severe scoliosis and, frequently, early-onset epilepsy.	preferido
A rare anomaly of puberty or/and menstrual cycle characterized by recurrent fevers (higher than 38 degrees Celsius) associated with the luteal phase of the menstrual cycle in women.	preferido
A rare anterior segment developmental anomaly without extraocular manifestations characterized by predominant iris and lens abnormalities, including iris hypoplasia, iris transillumination defects, ectropion uveae, corectopia, iridodonesis with ectopia lentis, and cataracts, with bilateral involvement. Increased intraocular pressure is absent in most patients.	preferido
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma.	preferido
A rare arthrogryposis syndrome characterized by arthrogryposis multiplex congenita with contractures involving multiple joints of the upper and lower limbs, camptodactyly of fingers and toes, skeletal abnormalities such as scoliosis and pectus excavatum, as well as variable speech and motor delay and hypotonia. Facial dysmorphism includes long eyelashes, periorbital fullness, ptosis, epicanthal folds, high arched/cleft palate, and micrognathia.	preferido
A rare arthrogryposis syndrome characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993.	preferido
A rare association syndrome, reported in several members of two families to date, characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities).	preferido
A rare autoimmune bullous skin disease characterized by the formation of subcorneal blisters mediated by autoantibodies against desmoglein 1, affecting predominantly seborrheic areas such as the head, neck, and upper trunk, but without any mucosal involvement. The lesions may be worsened by exposure to UV light and typically progress over weeks or months. The disease frequently occurs in children and young adults and is endemic to rural areas of Brazil and other countries in South America, as well as North Africa.	preferido
A rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and sometimes other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc). Localized scleroderma is the cutaneous form of scleroderma characterized by fibrosis of the skin causing cutaneous plaques (morphea) or strips (linear scleroderma). Systemic sclerosis (SSc) is a generalized disorder characterized by fibrosis and vascular obliteration in the skin and organs, particularly, lungs, heart, and digestive tract. The exact cause of scleroderma is unknown. The disease originates from an autoimmune reaction, which leads to localized overproduction of collagen. In some cases, the condition is associated with exposure to chemicals. Other suggested causes include genetic and infectious mechanisms.	preferido
A rare autoimmune encephalitis involving the mesial temporal lobes and clinically characterized by subacute onset (rapid progression of less than three months) of short-term memory deficits, seizures or psychiatric symptoms, such as behavioral changes, anxiety, depression, and psychosis. Further diagnostic criteria are bilateral abnormalities restricted to the mesial temporal lobes in brain MRI, cerebrospinal fluid pleocytosis and/or epileptic or slow-wave activity involving the temporal lobes in EEG, and reasonable exclusion of alternative causes. Paraneoplastic or non-paraneoplastic antibodies against neuronal antigens may be found in serum and/or cerebrospinal fluid.	preferido
A rare autoinflammatory disease and form of mevalonate kinase deficiency (MKD), characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgia and skin manifestations). The disease usually begins in the first year of life and rarely after 5 years of age. HIDS is an inherited syndrome caused by mutations in the mevalonate kinase (MVK) gene (12q24). These MVK mutations lead to reduced, but not abolished enzyme activity. This in turn leads to impaired control of the production of inflammatory mediators, which in turn cause inflammatory (fever) attacks. The disease follows an autosomal recessive pattern of inheritance.	preferido
A rare autoinflammatory disorder characterized by recurrent attacks of fever and sterile abscesses.	preferido
A rare autoinflammatory syndrome characterized by episodic and recurrent periods of fever combined with various systemic manifestations such as myalgia, arthralgia, joint swelling, urticaria, headache and skin rash. Common trigger of these episodes is cold.	preferido
A rare autoinflammatory syndrome with characteristics of a chronic-relapsing course of the combination of pyoderma gangrenosum, acne, hidradenitis suppurativa (which, in addition to axillae and inguinal folds, can be observed on upper and lower limbs, back, and buttocks, among others), and ankylosing spondylitis. Typical age of onset is adolescence to young adulthood, with the different signs and symptoms appearing simultaneously or subsequently.	preferido
A rare autoinflammatory syndrome with characteristics of a chronic-relapsing course of the combination of pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (which, in addition to axillae and inguinal folds, can be observed on the face, neck, scalp, back, and buttocks, among others). Typical age of onset is adolescence to young adulthood, with the different signs and symptoms appearing simultaneously or subsequently.	preferido
A rare autoinflammatory syndrome with characteristics of adult onset of rheumatologic manifestations such as recurrent fever, skin and pulmonary inflammation, ear and nose chondritis, vasculitis, deep vein thrombosis and arthralgia. Laboratory examination reveals progressive hematologic abnormalities including macrocytic anemia and thrombocytopenia, as well as elevated inflammatory markers. Bone marrow biopsy shows hypercellularity and signs of bone marrow dysplasia. The disease primarily occurs in males and is caused by somatic mutations on chromosome Xp11.	preferido
A rare autoinflammatory syndrome with characteristics of the combination of psoriatic arthritis, pyoderma gangrenosum, acne, and suppurative hidradenitis (which, in addition to axillae and inguinal folds, can be observed in other areas, such as the buttocks or labia majora).	preferido
A rare autoinflammatory syndrome with characteristics of the presence of features of relapsing polychondritis and Behcet disease in the same individual. This includes cartilage inflammation of the ears, nose, throat and rib cage as well as recurrent oral and genital ulcers respectively. Patients may also present ocular involvement (in particular anterior uveitis or scleritis), arthritis, fever, colitis, thrombophlebitis, and central nervous system vasculitis or in rare cases arterial aneurysms. Symptoms of polychondritis occur secondary to those of Behcet disease in the vast majority of cases.	preferido
A rare autoinflammatory syndrome with immune deficiency characterized by recurrent infections (bacterial and viral) due to NCKAP1L mutations. Patients present with recurrent respiratory tract infections and recurrent pneumonia mostly causing bronchiectasis, bacteremia, and meningitis. Patients also have systemic hyperinflammation which mostly presents with an atopic disease, hepatosplenomegaly, and lymphoproliferation. Cytokine overproduction, antibody abnormalities, elevated IgE levels and increased B cells are observed.	preferido
A rare autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and cafe-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.	preferido
A rare autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics.	preferido
A rare autosomal anomaly defined by the presence of three copies of chromosome 8 in some cells of the body, and clinically characterized by facial dysmorphism, typically deep palmar and plantar creases, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies.	preferido
A rare autosomal anomaly syndrome, with a highly variable phenotype, typically characterized by short length, joint abnormalities (e.g. dysplasia, hyperextensibility, contractures, dislocation), congenital cardiac defects, and craniofacial dysmorphism (including microcephaly, a high, prominent, narrow and/or hairy forehead, epicanthus, upward-slanting and/or small palpebral fissures, broad, high or depressed nasal bridge and malformed ears). Delayed motor development and intellectual disability is observed in patients not presenting early demise.	preferido
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects.	preferido
A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset cerebellar ataxia, variably combined with sensory axonal neuropathy. Patients may present gait and limb ataxia, dysarthria, abnormal oculomotor function, and distal sensory impairment. Cerebellar atrophy is typically mild or absent.	preferido
A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset gait and limb ataxia, dysarthria, and variable nystagmus. Brain imaging reveals cerebellar atrophy.	preferido
A rare autosomal dominant congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Causative gene mutation is ACTA1 (1q42.13).	preferido
A rare autosomal dominant congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Causative gene mutation is TPM3 (1q21.3).	preferido
A rare autosomal dominant congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by SELENON (1p36.11) gene mutation.	preferido
A rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.	preferido
A rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation.	preferido
A rare autosomal dominant distal hereditary motor neuropathy characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. Sensory involvement is typically less pronounced or absent. The severity of the condition is variable, and both lower and upper extremities may be involved.	preferido
A rare autosomal dominant distal hereditary motor neuropathy disease characterized by muscle weakness and wasting predominantly affecting the hands, in particular the thenar and first dorsal interosseus muscles, and/or marked foot deformity and gait disturbance. Sensation is normal, although reduced response to vibration has been described. The disease is slowly progressive with an age of onset within the first few decades of life.	preferido
A rare autosomal dominant ectodermal dysplasia syndrome characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features may include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics.	preferido
A rare autosomal dominant form of familial hyperinsulinism characterized clinically by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.	preferido
A rare autosomal dominant form of heart-hand syndrome that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.	preferido
A rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis. There have been no new reports since 1981.	preferido
A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and hyporeflexia beginning in the lower limbs. Progressive gait disturbance may lead to loss of independent ambulation in some patients at a higher age.	preferido
A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by childhood onset of slowly progressive distal muscle weakness and atrophy primarily affecting the lower limbs, associated with sensory impairment and ataxia presenting with an unsteady, broad-based gait and frequent falls. Additional signs include decreased deep tendon reflexes and hand tremor.	preferido
A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by early onset of generalized hypotonia and weakness, or later onset of distal lower limb muscle weakness and atrophy, cramps, and sensory impairment. Weakness and atrophy progress in an asymmetric fashion to involve also the proximal and upper limbs in the course of the disease. Additional features are pyramidal signs like increased muscle tone and extensor plantar reflexes, as well as learning difficulties.	preferido
A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by predominantly distal weakness and muscle atrophy, decreased or absent tendon reflexes, and reduced vibratory sensation in the lower and upper extremities. Pes cavus develops in many patients. Additional symptoms like ataxia, tremor, or swallowing difficulties have been reported. Patients usually remain ambulatory even late in the disease. Age of onset ranges from childhood to adulthood, with earlier onset tending to be associated with a more severe disease phenotype.	preferido
A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs.	preferido
A rare autosomal dominant limb-girdle muscular dystrophy characterized by adult onset of proximal muscle weakness, pain, and wasting predominantly affecting the proximal leg, lumbar paraspinal, and medial gastrocnemius muscles. Upper limb involvement may also be observed in some cases. Serum creatine kinase is often, but not always, elevated, and muscle biopsy shows non-specific myopathic changes. The severity of the disease is variable, although most patients remain ambulatory.	preferido
A rare autosomal dominant malformation syndrome characterized by hypertelorism, omphalocoele, cleft lip, ear pits, uterine malformation (bicornuate uterus), and more variably by diaphragmatic hernia and congenital heart defects.	preferido
A rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.	preferido
A rare autosomal dominant pure hereditary spastic paraplegia characterized by early childhood onset of slowly progressive crural spastic paraparesis presenting with spastic gait, mild stiffness at rest, hyperreflexia (in lower limbs), extensor plantar responses and, in some, mild postural tremor, pes cavus, sphincter disturbances and sensory loss at ankles.	preferido
A rare autosomal dominant tubulointerstitial kidney (ADTKD) disease due to MUC1 mutations characterized clinically by a bland urinalysis (absence of blood or protein in the urine), and chronic kidney disease leading to end-stage kidney disease (ESKD) between 20 and 80 years.	preferido
A rare autosomal dominant tubulointerstitial kidney disease (ADTKD) of childhood due to REN mutations and characterized by early onset hypoproliferative anemia, hyperuricemia, gout, and slowly progressive tubulointerstitial kidney disease.	preferido
A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with global developmental delay, intellectual disability, infantile-onset seizures, and spastic tetraplegia. Brain imaging may show delayed myelination and cerebral atrophy. Marked intrafamilial variability has been reported.	preferido
A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy. There have been no further descriptions in the literature since 1995.	preferido
A rare autosomal monosomy characterized by a variable phenotype with moderate to severe intellectual disability, behavioral problems, short stature, microcephaly, dysplastic nails, sparse hair, cleft palate and dysmorphic craniofacial features.	preferido
A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height <120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type.	preferido
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adolescent or adult onset of slowly progressive muscle weakness and atrophy of the distal lower limbs progressing to involve also the upper limbs and proximal muscles, and sensory impairment. Patients present gait disturbances and loss of reflexes, at later stages loss of ambulation, dysarthria, dysphagia, facial weakness, and impairment of respiratory muscles requiring assisted ventilation.	preferido
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and decreased or absent deep tendon reflexes predominantly in the lower extremities. Patients present gait disturbances but remain ambulatory. Mild involvement of the upper limbs may be seen.	preferido
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by childhood to adult onset of slowly progressive, sometimes asymmetric distal muscle weakness and atrophy, as well as sensory impairment, predominantly of the lower limbs. Additional common features include pes cavus, kyphoscoliosis, ankle contractures, tremor, or urogenital dysfunction. Fasciculations and proximal involvement may be seen in some cases. Patients usually remain ambulatory.	preferido
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by early-onset axial hypotonia, generalized muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes.	preferido
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by infantile onset of recurrent episodes of acute liver failure (resulting in chronic liver fibrosis and hepatosplenomegaly), delayed motor development, cerebellar dysfunction presenting as gait disturbances and intention tremor, neurogenic stuttering, and motor and sensory neuropathy with muscle weakness especially in the lower legs, and numbness. Mild intellectual disability was reported in some patients. MRI of the brain shows non-progressive atrophy of the cerebellar vermis and thinning of the optic nerve.	preferido
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by motor-predominant axonal polyneuropathy due to a defect in copper metabolism. Patients become symptomatic in infancy or childhood with subtle motor delay or regression, manifesting with progressive weakness, muscle wasting, and absent reflexes in the lower and upper extremities. In addition, vibratory sensation is mildly diminished. Involvement of the face with weakness and fasciculation of facial muscles has also been described.	preferido
A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.	preferido
A rare autosomal recessive cerebellar ataxia characterized by early onset of non- or slowly progressive cerebellar signs and symptoms including truncal and gait ataxia, dysarthria, dysmetria, dysdiadochokinesis, tremor, and nystagmus. Delayed psychomotor development and intellectual disability are variable. Additional reported features are spasticity, hypotonia, cataracts, and sensorineural hearing loss, among others. Brain imaging shows cerebellar atrophy.	preferido
A rare autosomal recessive cerebellar ataxia characterized by early onset of slowly progressive cerebellar atrophy, clinically manifesting with extremity and truncal ataxia, global developmental delay, intellectual impairment, nystagmus, dysarthria, intention tremor, and pyramidal signs, among others.	preferido
A rare autosomal recessive cerebellar ataxia characterized by onset of dystonia and other extrapyramidal signs, ataxia, oculomotor apraxia, and progressive sensorimotor polyneuropathy in the first decade of life. Patients present distal muscle weakness and atrophy, decreased vibratory sensation, and areflexia, and usually become wheelchair-bound by the third decade. Variable cognitive impairment may also be seen.	preferido
A rare autosomal recessive cerebellar ataxia, characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.	preferido
A rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.	preferido
A rare autosomal recessive complex spastic paraplegia characterized by mostly adult-onset progressive spasticity and weakness predominantly affecting the lower limbs, axonal motor and sensory neuropathy, and cerebellar symptoms like ataxia, dysarthria, and oculomotor abnormalities. Variable degrees of cognitive impairment may also be present. Subtle extrapyramidal involvement and supranuclear gaze palsy were reported in some cases. Features on brain imaging include cerebral and cerebellar atrophy and sometimes abnormalities of the corpus callosum or basal ganglia.	preferido
A rare autosomal recessive complex spastic paraplegia characterized by upper motor neuron involvement and peripheral neuropathy with an onset between childhood and early adulthood. Patients present with progressive spasticity, hyperreflexia, and distal upper and lower muscle wasting. Reduced cognitive functioning and cerebellar ataxia have also been reported. MR imaging may reveal cerebellar and/or spinal cord atrophy.	preferido
A rare autosomal recessive congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Causative gene mutation is ACTA1 (1q42.13).	preferido
A rare autosomal recessive congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Causative gene mutation is TPM3 (1q21.3).	preferido
A rare autosomal recessive congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by SELENON (1p36.11) gene mutation.	preferido
A rare autosomal recessive disorder characterized by very early-onset and severe hypertension, low renin levels, low aldosterone, metabolic alkalosis, hypernatremia, and hypokalemia.	preferido
A rare autosomal recessive distal myopathy characterized by slowly progressive diffuse muscle weakness in childhood, followed by predominantly distal muscle weakness in adolescence, and quadriceps muscle weakness in the fourth decade. Facial muscle weakness is commonly reported. Muscle biopsy shows fiber size variation, increased internal nuclei, fiber splitting, rimmed vacuoles, and focal endomysial fibrosis.	preferido
A rare autosomal recessive glycogen storage disease characterized by severe cardiomyopathy and cardiac dilatation potentially progressing to heart failure requiring transplantation. Cardiomyocytes show large inclusions of storage material consistent with polyglucosan. Clinical evidence of skeletal muscle involvement is usually absent.	preferido
A rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by congenital impaired sensation of acute or inflammatory pain in combination with an inability to identify noxious heat or cold, leading to numerous painless mutilating lesions and injuries. Further manifestations are absence of corneal reflexes resulting in corneal scarring, reduced sweating and tearing, and recurrent skin infections. Large-fiber sensory modalities such as light touch, vibration, and proprioception are normal.	preferido
A rare autosomal recessive inborn error of metabolism characterized by increased urinary excretion of dicarboxylic amino acids, glutamate and aspartate, that can be associated with kidney stones and neuropsychiatric manifestations.	preferido
A rare autosomal recessive limb-girdle muscular dystrophy characterized by adult onset of progressive muscle weakness and atrophy in the proximal upper and lower limbs, leading to scapular winging and loss of independent ambulation. Respiratory function may become impaired in the course of the disease. Fatty degeneration of internal regions of thigh muscles sparing external areas has been reported, as well as a reduction of alpha-dystroglycan in muscle biopsies.	preferido
A rare autosomal recessive limb-girdle muscular dystrophy characterized by childhood to adult onset of slowly progressive limb girdle muscular weakness, often accompanied by calf hypertrophy, and moderately elevated creatine kinase levels. Patients remain ambulatory but may variably present mild intellectual disability, seizures, migraine, or cardiopulmonary involvement. Occurrence of dilated cardiomyopathy has been reported. Brain MRI typically shows hyperintensity in T2-weighted sequences. Muscle biopsy commonly reveals dystrophic features.	preferido
A rare autosomal recessive limb-girdle muscular dystrophy characterized by infantile to adolescent onset of a milder form of limb-girdle muscular dystrophy with or without intellectual disability. Patients present variable proximal limb muscular weakness with calf hypertrophy and elevated serum creatine kinase.	preferido
A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe.	preferido
A rare autosomal recessive primary immunodeficiency characterized by Epstein-Barr virus (EBV)-triggered lymphoproliferative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma and EBV-driven hemophagocytic lymphohistiocytosis (HLH). Aplastic anemia and inflammatory disorders such as uveitis and oral ulcers are also observed.	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)