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


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT model component module (core metadata concept)

Descriptions:

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


1270230 members. Search Members:

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Outbound Relationships Type Target Active Characteristic Refinability Group Values
US English Is a English [International Organization for Standardization 639-1 code en] language reference set (foundation metadata concept) true Inferred relationship Some

Members acceptabilityId
A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors. Preferred (foundation metadata concept)
A partial deletion of the short arm of chromosome 8 with manifestations of low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects. The prevalence is unknown but 8p23.1 deletions are rare. The clinical manifestations are variable and do not depend on the size of the deletion, since this is the same in the majority of patients. Most 8p23.1 deletions occur de novo, however, parents can carry and transmit the chromosomal rearrangement to their children as well, with a risk of 50% for each child. Preferred (foundation metadata concept)
A partial monosomy of the long arm of chromosome 9 with characteristics of intellectual disability, developmental delay with pronounced speech delay, short stature and muscular hypotonia. Common craniofacial dysmorphic features consist of microcephaly, prominent forehead, round face, arched eyebrows, upslanting palpebral fissures, strabismus, short nose and thin upper lip. Other clinical findings include epilepsy, ataxia, unspecific brain MRI findings, early-onset primary dystonia, nail dysplasia and bone malformations, in particular patellar abnormalities, epistaxis and cutaneous-mucous telangiectasia. Preferred (foundation metadata concept)
A partial-thickness cornea transplant procedure that involves selective transplantation of the corneal stroma, preserving the Descemet membrane and endothelium. Preferred (foundation metadata concept)
A pathological immune process generally directed towards a foreign antigen, which results in tissue injury, which is usually transient. It is the realization of the allergic disposition. It is most often applied to type I hypersensitivity but other hypersensitivity types especially type IV (e.g. allergic contact dermatitis) may be involved. Preferred (foundation metadata concept)
A pathological nonimmune process generally directed towards a foreign substance, which results in tissue injury, which is usually transient. It is the realization of the pseudoallergic disposition. A variety of mechanisms such as direct histamine release, complement activation, cyclooxygenase activation and bradykinin generation may be involved. Preferred (foundation metadata concept)
A pathological process consisting of the formation of new blood vessels in the choroid. Preferred (foundation metadata concept)
A pathological process initiated by exposure to a defined stimulus at a dose tolerated by normal persons. It may be the manifestation of a disposition to hypersensitivity. Preferred (foundation metadata concept)
A patient encounter completed using an electronic text-based software application (ie. text-based chatting) that allows for asynchronous communication between the patient and a clinician or health care administrator. Preferred (foundation metadata concept)
A patient speculated to have Ebola virus disease (EVD) based on symptomatology and history of exposure to the Ebola virus Preferred (foundation metadata concept)
A patient under general anesthesia with muscle relaxation who cannot be intubated by direct laryngoscopy and in whom mask ventilation is difficult and impossible. Preferred (foundation metadata concept)
A patient without symptomatology or history to suggest concern for EVD. Preferred (foundation metadata concept)
A pattern strabismus Preferred (foundation metadata concept)
A pattern strabismus (disorder) Preferred (foundation metadata concept)
A pattern vergence Preferred (foundation metadata concept)
A pattern vergence (finding) Preferred (foundation metadata concept)
A patterned dystrophy of the retinal pigment epithelium with a progressive course. The disease is characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. Sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses and partial atrophy of the iris. Preferred (foundation metadata concept)
A patterned dystrophy of the retinal pigment epithelium with characteristics of abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age. Preferred (foundation metadata concept)
A patterned dystrophy of the retinal pigment epithelium with characteristics of multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease. Usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age. Preferred (foundation metadata concept)
A periarticular route that begins within the articular cartilage. Preferred (foundation metadata concept)
A perinatally lethal skeletal dysplasia with manifestations of severe short-limbed dwarfism, joint dislocations, clubfeet along with distinctive facies and radiographic findings. Affected neonates are stillborn or die rapidly after birth. Craniofacial dysmorphism has characteristics of prominent forehead, hypertelorism, a depressed nasal bridge with a grooved tip, micrognathia and frequently a cleft palate. There is a continuum with overlapping clinical findings between atelosteogenesis I, atelosteogenesis III and boomerang dysplasia. This disease results from heterozygous mutations in exons 2-5 and 27-33 of the gene encoding filamin B (FLNB) located to 3p14. Preferred (foundation metadata concept)
A period of time equal to sixty seconds or a sixtieth of an hour. Preferred (foundation metadata concept)
A period of time occurring before, during and or after a clinical entity Preferred (foundation metadata concept)
A permanent disorder of the development of movement, posture and motor function, causing activity limitation, caused by non-progressive disturbances in the developing fetal or infant brain. Preferred (foundation metadata concept)
A permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary. The clinical manifestations can be subtle, probably as a result of trans-placental passage of some maternal thyroid hormone or due to the fact that many infants have some thyroid production of their own. Goiter is always absent. Slow linear growth and developmental delay are usually apparent by 4-6 months of age. Without treatment hypothyroidism results in severe intellectual deficit and short stature. The hypothyroidism is caused by mutations in genes regulating pituitary gland development including HESX1, LHX3, LHX4, POU1F1 and PROP1 (3p21.2-p21.1, 9q34.3, 1q25, 3p11 and 5q). Preferred (foundation metadata concept)
A peroxisomal neurodegenerative disorder with characteristics of spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotropic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy. There is evidence this disease is caused by homozygous mutation in the SCP2 gene on chromosome 1p32. Preferred (foundation metadata concept)
A person appointed by a court to make decisions on behalf of the subject once they have lost capacity to make them themselves. Preferred (foundation metadata concept)
A person responsible for coordinating all stages of the patient rehabilitation process. Preferred (foundation metadata concept)
A person who coordinates clinical research studies. Preferred (foundation metadata concept)
A person who coordinates multi-disciplinary patient care services, assuring that patients receive the care intended by their care plan. Preferred (foundation metadata concept)
A person who coordinates the activities of a care team. Preferred (foundation metadata concept)
A person who habitually uses nicotine, whether by smoking or other delivery system (such as electronic cigarette). Preferred (foundation metadata concept)
A person who has been trained to help guide another person in their spiritual journey. Preferred (foundation metadata concept)
A person who has the responsibility of communicating and coordinating healthcare interventions for individuals in populations with a specific condition. Preferred (foundation metadata concept)
A person who performs routine tasks and household duties for a patient in their home. Preferred (foundation metadata concept)
A person who provides support and guidance to an individual or a group of people such as a family or community during a crisis. Preferred (foundation metadata concept)
A person who shares the primary responsibility for the preparation, conduct, and administration of a research grant, cooperative agreement, or other sponsored project in compliance with applicable laws and regulations and institutional policy governing the conduct of clinical research. Preferred (foundation metadata concept)
A person who teaches in schools on the subject of promotion of health awareness and prevention of disease or injury. Preferred (foundation metadata concept)
A person who undertakes a collaborative process of assessment, planning, facilitation, care coordination, evaluation, and advocacy for options and services to meet individual and family. comprehensive health needs. Preferred (foundation metadata concept)
A person with no known exposure to Ebola virus. This includes anyone who has been in a country in which an EVD outbreak occurred within the past 21 days and has had no high or low risk exposures to the Ebola virus. Preferred (foundation metadata concept)
A person's ability to walk between locations in a room. Preferred (foundation metadata concept)
A person's ability to walk in corridor on unit. Preferred (foundation metadata concept)
A phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism. Four cases have been described in two families. The frontonasal dysplasia includes coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip. Affected individuals have mild to moderate intellectual deficit. A homozygous nonsense mutation in the human aristaless-like 4 (ALX4, 11p11.2) gene was identified in both families. The condition is transmitted as an autosomal recessive trait. Preferred (foundation metadata concept)
A phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy and characterized by progressive visual impairment, strokes and often associated with Raynaud phenomenon and migraine-like symptoms. Preferred (foundation metadata concept)
A phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy and characterized by strokes, vision loss, pseudotumors, seizures, motor and sensory deficits, headaches and occasionally renal disease. Preferred (foundation metadata concept)
A phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy characterized by strokes, vision loss, migraines, pseudotumors, dementia and occasionally renal disease. Preferred (foundation metadata concept)
A photocoagulation using a laser beam Preferred (foundation metadata concept)
A photographic image of a patient with the mouth partially open and the teeth not in occlusion or touching. Preferred (foundation metadata concept)
A physician who has the authority and assumes the responsibility for patient discharge from a healthcare facility. Preferred (foundation metadata concept)
A pipe ending in a small furnace that is filled with tobacco or other smokable substance and lit to draw out the smoke. Preferred (foundation metadata concept)
A place where the bodies of dead persons are kept temporarily pending identification or release for burial or autopsy. Preferred (foundation metadata concept)
A plan or recommendation for services, based on an evaluation Preferred (foundation metadata concept)
A platelet granule disorder with manifestation of thrombocytopenia with giant platelets resulting in increased propensity for bleeding. Preferred (foundation metadata concept)
A platelet granule disorder with manifestation of thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding. Preferred (foundation metadata concept)
A poly-malformation syndrome with characteristics of craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia and genital and breast anomalies. Less than ten cases have been described so far. Preferred (foundation metadata concept)
A polymalformation syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit. Preferred (foundation metadata concept)
A polymalformation syndrome with main features of agenesis of corpus callosum, distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit. Craniofacial anomalies include macrocephaly with protruding forehead and occiput and hypertelorism. Distal anomalies of limbs include preaxial or postaxial polydactyly or polysyndactyly of toes and/or hands. The large majority of patients have intellectual deficit that is severe in 80% of cases. Mutations of the kinesin KIF7 (15q26.1) and the transcriptional activator GLI3 (7p14.1) genes are responsible for the disease. An autosomal recessive disease. Preferred (foundation metadata concept)
A polymorphic disorder with characteristics of ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia. Disease onset occurs in adulthood from the ages of 30-40. Mild brain atrophy with cerebellum involvement is visible with magnetic resonance imaging. Caused by a mutation in the DNA methyltransferase (DNMT1) gene located on chromosome 19p13.2. It encodes an enzyme essential for the repression of transcriptional activity in numerous postmitotic cells. Preferred (foundation metadata concept)
A polymorphic pattern of inflammatory reaction of the skin in response to contact with external irritants or allergens. Preferred (foundation metadata concept)
A porcine xenograft of skin is when the skin donor is a pig and the graft recipient is a different species (human). Preferred (foundation metadata concept)
A potential space containing the pterygoid and masseter muscles Preferred (foundation metadata concept)
A potential space in the floor of the mouth; the part of the submandibular space above the mylohyoid muscle Preferred (foundation metadata concept)
A potential space of the floor of the mouth; part of the submandibular space below the mylohyoid muscle Preferred (foundation metadata concept)
A potential space of the floor of the mouth; the medial part of the submaxillary space Preferred (foundation metadata concept)
A potentially fatal neurological disease with characteristics of neuropathological lesions principally involving the brainstem, thalamus and putamen. It has been described in 11 members of one family. Onset occurs during early childhood, typically a few days after a febrile illness. Manifestations include vomiting, seizures, spasticity, language regression, rigidity and abnormal posturing of the head. Residual neurologic impairment (muscle weakness, speech disturbance, intellectual deficit and mood disorders) persists in some patients. The disease is chronic in one out of two cases. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Preferred (foundation metadata concept)
A potentially lethal complication of pheochromocytoma that may occur as a result of anesthesia, surgery or during pregnancy and childbirth. The crisis is caused by excessive release of catecholamines and may be drug-induced secondary to histamine release, dopamine receptor blockade, or sympathomimetic action. Crisis may also result from mechanical factors such as squeeze of the tumor during surgery. Preferred (foundation metadata concept)
A pressure ulcer that cannot be assessed for extent of tissue damage because it is obscured by slough or eschar. Preferred (foundation metadata concept)
A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects. Preferred (foundation metadata concept)
A primary bone dysplasia with characteristics of height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs. Mesomelic disproportions and Madelung deformity are not apparent at a young age but may develop later in life or never. Preferred (foundation metadata concept)
A primary bone dysplasia with characteristics of premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis and joint space narrowing. Preferred (foundation metadata concept)
A primary glomerular disease with characteristics of proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life. Fibronectin glomerulopathy may present at different ages, although mostly in adolescence or early adulthood, with typical features of a nephrotic syndrome including hypertension. Clustering of the disease within families indicates a genetic origin. In 40% of families, the disease is caused by heterozygous mutations in the FN1 gene (2q34) encoding fibronectin. Whole-genome linkage analysis in a large pedigree showed another disease locus on 1q32, however no specific candidate genes has been identified so far. Segregation with disease appearance in successive generations is consistent with an autosomal dominant pattern of inheritance with age-related penetrance. Preferred (foundation metadata concept)
A primary headache disorder with characteristics of unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing). The disease manifests with strictly unilateral pain attacks of moderate-to-severe intensity. The typical patient may have 50 to 100 short attacks a day, lasting for 1 to 5 minutes. The attacks predominate during the daytime. Prominent, ipsilateral conjunctival injection and lacrimation regularly accompany the attacks. Trauma, arteriovenous malformations and pituitary adenoma may have a causative role. Preferred (foundation metadata concept)
A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas. The disease is due to a point dominant negative mutation in the RAC2 gene causing decreased Rac2 protein expression and a defect in a signaling pathway controlling shape change/motility of neutrophils as well as assembly and activation of NADPH oxidase. The mode of transmission is unknown. Preferred (foundation metadata concept)
A primary immunodeficiency with characteristics of increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease. Only 24 cases have been reported. The disease presents in childhood with recurrent, life-threatening, pyogenic bacterial infections. This predisposition to life-threatening infections seems transient and lasts during the first 10 years of life in the cases reported so far. Myeloid differentiation primary response 88 (MyD88) deficiency results from mutations in the MYD88 gene (3p22-3p21.3) which generally abolishes the cytokine responses of the blood cells. Transmission is autosomal recessive. Preferred (foundation metadata concept)
A primary microangiopathy confined to the skin with characteristics of multiple and widespread telangiectasia. It is a rare disorder with less than 20 cases reported in the literature to date. Most patients present in adulthood with symmetrical telangiectasia appearing on the lower extremities and later progressing to the trunk and upper extremities. Thought to be associated with collagen abnormalities in the skin microvasculature. Preferred (foundation metadata concept)
A procedure done by piercing or penetrating with a pointed object or instrument Preferred (foundation metadata concept)
A procedure in which an endoscope is used to access the procedure site. Preferred (foundation metadata concept)
A procedure on the respiratory tract that observes pulmonary function Preferred (foundation metadata concept)
A procedure that assesses the quality of health care service delivery Preferred (foundation metadata concept)
A procedure that mobilizes or frees up an abnormally fixed structure Preferred (foundation metadata concept)
A procedure to ascertain the level of antigen in a specimen. Preferred (foundation metadata concept)
A procedure to remove the remaining thyroid tissue after a previous partial thyroid resection. Preferred (foundation metadata concept)
A process characterized by an initial humoral or cell-mediated immune response to a foreign antigen resulting in the production of specific antibodies and/or immune cells which may then lead to an allergic disposition. Preferred (foundation metadata concept)
A process characterized by an initial immune response to a foreign or self antigen resulting in the production of specific immunologic memory cells, antibodies and immune effector cells. Preferred (foundation metadata concept)
A process characterized by an initial immune response to a foreign tissue antigen of the same species resulting in the production of specific immunologic memory cells, antibodies and immune effector cells which may lead to cellular destruction or transplant rejection. Preferred (foundation metadata concept)
A process of working with others such as teachers, parents and care staff with the purpose of modifying their perceptions, attitudes, knowledge or understanding in order to enhance occupational performance within the patient's social environment. Preferred (foundation metadata concept)
A process that reduces the level of inorganic precipitate within the organic matrix in the enamel and dentin of the tooth. Preferred (foundation metadata concept)
A process where a dose form is transformed from that supplied by the manufacturer into a new dose form. This may occur as part of the dispensing act or immediately before administration. Preferred (foundation metadata concept)
A professional discipline that combines basic pharmacology and clinical medicine with a focus of developing and understanding new drug therapies. Preferred (foundation metadata concept)
A professional who works in projects of sponsoring organization and is responsible for planning, organizing and conducting regulated research. Preferred (foundation metadata concept)
A progressive autosomal dominant macular dystrophy with characteristics of parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bull's eye configuration. Preferred (foundation metadata concept)
A progressive chronic inflammatory disease of the central nervous system with the etiologic agent Human T cell lymphotropic virus type I (HTLV-I), the disease is characterized by unremitting myelopathic symptoms such as spastic paraparesis, bowel and/or bladder dysfunction and sensory changes of the lower limbs. Preferred (foundation metadata concept)
A progressive muscular dystrophy with characteristics of co-existence of limb-girdle weakness and diffuse joint contractures without cardiomyopathy. Patients present lower limb weakness progressing to involve also upper limbs and axial muscles and eventually leading to permanent loss of ambulation, widespread joint contractures in the limbs and sometimes the spine and variable respiratory involvement. Morphological changes in muscle biopsies include rimmed vacuoles, increased internal nuclei, cytoplasmic bodies and a dystrophic pattern. Preferred (foundation metadata concept)
A progressive reduction in amplitude during a writing task Preferred (foundation metadata concept)
A propensity to an adverse reaction which is not an allergy or nonallergic hypersensitivity FHIR Release 3 (STU). Preferred (foundation metadata concept)
A propensity to developing a pathological immune process generally directed towards a foreign antigen, which results in tissue injury. It is most often applied to type I hypersensitivity but other hypersensitivity types especially type IV (e.g. allergic contact dermatitis) may be involved. Revised nomenclature for allergy for global use:Report of the Nomenclature Review Committee of the World Allergy Organization, October 2003. Preferred (foundation metadata concept)
A propensity to developing an adverse reaction upon exposure to an agent at a dose otherwise tolerated by normal individuals. Revised nomenclature for allergy for global use:Report of the Nomenclature Review Committee of the World Allergy Organization, October 2003. Preferred (foundation metadata concept)
A pulmonary function test that measures lung volumes Preferred (foundation metadata concept)
A pulse with repeated irregularity Preferred (foundation metadata concept)
A puncture action done to intentionally and non-transiently alter the body structure. Preferred (foundation metadata concept)
A puncture into a space with an aspiration of that space Preferred (foundation metadata concept)

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