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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: 01-Jul 2024. Module: IPS terminology 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) IPS terminology module (core metadata concept)
900000000001116013 US English en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) IPS terminology 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) IPS terminology module (core metadata concept)


57868 members. Search Members:

Expanded Value Set


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

Members acceptabilityId
A complex mixture consisting of allergenic proteins derived from natural sources. May be used for diagnosis or therapy. Extracts used for diagnosis have the same active ingredients as those used for therapy but may differ by concentration, diluent or other additives. Preferred (foundation metadata concept)
A condition in which the placenta is located over or near the internal os of the cervix, increasing the risk of hemorrhage. Preferred (foundation metadata concept)
A congenital disorder characterized by nonprogressive cerebellar ataxia, associated with a moderate to profound intellectual disability and delayed ambulation. Gait can be either bipedal or quadrupedal. Additional features include hypotonia, lack of coordination, delayed motor development, seizures, dysarthria, strabismus, short stature, and pes planus. Etiological subtypes have been reported and include type 1 (CAMRQ1), 2 (CAMRQ2), 3 (CAMRQ3) and 4 (CAMRQ4) which are attributed to mutations in VLDLR (9p24), CA8 (8q12.1), WDR81 (17p13.3) and ATP8A2 (13q12) genes, respectively. Transmission is autosomal recessive. Preferred (foundation metadata concept)
A congenital vascular bone syndrome with the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb. The affected limb may show overgrowth in comparison with the contralateral limb and the extent of this limb length discrepancy may vary from a slight difference to 10cm or more. The growth effect may be manifested in only one bone (mainly the femur or tibia) or, in some cases, affect the whole limb. The existence of arteriovenous fistulas around or inside the bone is now being widely accepted as the main cause of bone overgrowth. Although the syndrome generally appears to be sporadic, autosomal dominant inheritance has been noted in a few families. Preferred (foundation metadata concept)
A construction of an abnormal passage between a cavity or hollow organ and the surface of the body. Preferred (foundation metadata concept)
A construction of an opening between two hollow structures, organs, or spaces, be they real or artificial Preferred (foundation metadata concept)
A decrease in bone mineral density with a T-score via DEXA (dual-energy X-ray absorptiometry) bone scan between -1 and -2.5. Preferred (foundation metadata concept)
A decrease in bone mineral density with a T-score via DEXA (dual-energy X-ray absorptiometry) bone scan of less than -2.5. Preferred (foundation metadata concept)
A decrease in lower leg circumference due to recurrent ulceration and fat necrosis causing loss of subcutaneous tissue in a patient with venous stasis disease. Preferred (foundation metadata concept)
A destruction of tissue by means that results in condensation of protein material Preferred (foundation metadata concept)
A disease of the brain characterized by an enduring predisposition to generate epileptic seizures. Preferred (foundation metadata concept)
A disorder in which there is abnormal electrical activity in the heart. Preferred (foundation metadata concept)
A disorder of the superior trunk of the brachial plexus or the fifth and sixth cervical spinal nerves or motor roots, resulting in weakness of proximal upper extremity musculature innervated by these nerve roots Preferred (foundation metadata concept)
A disorder which is not a natural consequence or progression of any pre-existing disorder, resulting from a diagnostic procedure or any form of therapy that is not an intended or expected outcome of its use. Preferred (foundation metadata concept)
A disorder, which is not a natural consequence or progression of any pre-existing disorder, resulting from a diagnostic procedure or any form of therapy that is not an intended or expected outcome. Preferred (foundation metadata concept)
A distinct sub-group of genetic generalized epilepsy that includes only four epilepsy syndromes: childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, and epilepsy with generalized tonic-clonic seizures alone. Preferred (foundation metadata concept)
A drug hypersensitivity reaction with a relatively long latency period after exposure characterized by rash, fever, lymphadenopathy, hematologic abnormalities including eosinophilia and atypical lymphocytosis and internal organ involvement. Clinical presentation is highly variable. Eosinophilia is present in 50-90% of cases. Preferred (foundation metadata concept)
A finding of increased blood pressure; not necessarily a hypertensive disorder. Preferred (foundation metadata concept)
A fluid-filled, raised, often translucent lesion, greater than 1 cm in diameter Preferred (foundation metadata concept)
A form of cyanosis that occurs when there is a decrease in oxygen saturation in the arterial blood, usually with an SaO2 of below 75%. Preferred (foundation metadata concept)
A form of spastic cerebral palsy affecting all four limbs; the term bilateral hemiplegia may also be used when one side has a significantly different tone compared with the other. Preferred (foundation metadata concept)
A form of spastic cerebral palsy affecting the arm and/or leg on one side of the body. An ipsilateral upper and/or lower extremity is affected. Preferred (foundation metadata concept)
A group of disorders including ankylosing spondylitis, axial spondylarthritis, spondyloarthritis due to inflammatory bowel disease, and other conditions. They share the common features of inflammation of axial joints, asymmetric oligoarthritis, dactylitis, and enthesitis. Preferred (foundation metadata concept)
A group of small reddish or purplish spots in skin or mucous membrane as a result of localized hemorrhage. Preferred (foundation metadata concept)
A grouper concept for substances that are used in medicinal products for medical treatment, and also psychoactive substances that have few or no legitimate medical uses or that are not legally available to the person using them. Preferred (foundation metadata concept)
A heterogeneous group of endocrine disorders with characteristics of normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP). PHP-1a, PPHP, and PHP-1b are all due to molecular defects in the same locus of the GNAS (20q13.2-q13.3) gene coding the alpha sub-unit of the stimulatory G protein. PHP can be sporadic or inherited autosomal dominantly with parental imprinting. Preferred (foundation metadata concept)
A hypersensitivity condition of skin or mucous membranes at the site of direct surface contact with irritants or allergens. A general class that includes both immunologic and non-immunologic conditions. Preferred (foundation metadata concept)
A listening to spontaneously generated body sounds Preferred (foundation metadata concept)
A medical or surgical process in which an organ, tissue, or cells from one individual (the donor, which may be from the patient or from another individual) are moved and implanted into a recipient individual. Preferred (foundation metadata concept)
A neural tube defect with characteristics of improper closure of the spinal column during embryonal development. In the case of spina bifida occulta the site of the lesion is not exposed, there is a midline defect of the vertebral bodies without protrusion of the spinal cord or meninges. 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 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 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 polymorphic pattern of inflammatory reaction of the skin in response to contact with external irritants or allergens. Preferred (foundation metadata concept)
A procedure done by piercing or penetrating with a pointed object or instrument Preferred (foundation metadata concept)
A procedure on the respiratory tract that observes pulmonary function Preferred (foundation metadata concept)
A procedure to repair a defect of the atrioventricular septum, contiguous atrial and ventricular septal defects and abnormalities of the atrioventricular valves. The severity of the atrioventricular valve abnormalities can vary. A defect of the atrioventricular septum has previously been known as an endocardial cushion defect or atrioventricular canal defect. 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 puncture into a space with an aspiration of that space Preferred (foundation metadata concept)
A raised, erythematous papule or cutaneous plaque, usually representing short-lived dermal edema. Preferred (foundation metadata concept)
A rare acquired peripheral neuropathy with characteristics of 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. Preferred (foundation metadata concept)
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. Preferred (foundation metadata concept)
A rare congenital disorder of bone resorption characterized by generalized skeletal densification. Bone marrow failure, fractures and visual impairment are the classical features of the disease, which begins in early infancy or in fetal life. It results from the failure of osteoclasts to resorb immature bone. This leads to abnormal bone marrow cavity formation and to the clinical signs and symptoms of bone marrow failure. It is accompanied by hepatosplenomegaly due to compensatory extramedullary hematopoiesis. The disease is heterogeneous. Over 50% of cases are due to mutations in the TCIRG1 gene and another 10% are due to mutations in the CLCN7 gene. A small number of patients have been described with mutations in the OSTM1 gene. Transmission is autosomal recessive. Preferred (foundation metadata concept)
A rare disorder of the eye in which the endothelium lining the interior of the cornea proliferates causing unusually high pressure in the eye, distortion of the iris and corneal edema. Preferred (foundation metadata concept)
A rare genetic hyperlipidemia characterized by excessive increase in plasma triglyceride levels due to the accumulation of chylomicrons. Clinical manifestations include recurrent episodes of severe acute pancreatitis, abdominal pain, nausea, fatigue, diarrhea, constipation, hepatosplenomegaly, eruptive xanthomas and failure to thrive. Children may often be asymptomatic. The condition is not associated with severe atherosclerosis. Preferred (foundation metadata concept)
A rare inborn error of amino acid metabolism with characteristics of elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not detected early or left untreated, the disorder manifests with mild to severe mental disability. The most common form of the condition is known as classical phenylketonuria and has severe symptoms. A mild form has also been described (mild PKU), and an even milder form known as mild hyperphenylalaninemia (mild HPA or non-PKU HPA). A subset of patients with milder phenotypes has been found to be responsive to tetrahydrobiopterin (BH4), the cofactor of phenylalanine hydroxylase (BH4-responsive HPA). The disease is caused by a wide range of variants in the PAH gene (12q22-q24.2) coding for phenylalanine hydroxylase. Transmission is autosomal recessive. Preferred (foundation metadata concept)
A rare inflammatory necrotizing systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs, including the kidney, the lungs, the skin and the peripheral nerves. This disease is an antineutrophil cytoplasmic autoantibodies (ANCA)-associated autoimmune disease with little or no immune complex deposition. Evidence indicates that ANCA can activate neutrophils and monocytes and cause them to attack vessel walls. Preferred (foundation metadata concept)
A rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis. Age of onset peaks around 45 and symptoms develop over months or years. Progressive muscle stiffness renders the trunk and hips immobile and the gait becomes stiff and awkward. The presence of antibodies against glutamic acid decarboxylase (GAD-Abs) in more than 70% of cases suggests an autoimmune pathogenesis. GAD-Abs may block synthesis of the inhibitory neurotransmitter, gamma-aminobutyric acid (GABA) thereby attenuating inhibition of spinal motoneurones. Preferred (foundation metadata concept)
A rare neurological disorder with characteristics of reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems. Preferred (foundation metadata concept)
A rare neurological disorder with characteristics of relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported. Preferred (foundation metadata concept)
A repair that unites structures Preferred (foundation metadata concept)
A reparative construction that builds or rebuilds a structure that should normally be present. Preferred (foundation metadata concept)
A route of administration that is across the skin and into the systemic circulation. Preferred (foundation metadata concept)
A route that begins on the surface of the body. Preferred (foundation metadata concept)
A route that begins within the respiratory tract, including the oropharynx and nasopharynx. Preferred (foundation metadata concept)
A seizure type with focal onset, with awareness or impaired awareness, either motor or non-motor, progressing to bilateral tonic (stiffening) followed by clonic (sustained rhythmic jerking) activity of body and limbs. Preferred (foundation metadata concept)
A separation of different structures along natural cleavage lines by dividing the connective tissue framework. Preferred (foundation metadata concept)
A sequence consisting of bilateral symmetric or sometimes asymmetric tonic contraction and then bilateral clonic contraction of somatic muscles, usually associated with autonomic phenomena and loss of awareness. A seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. Preferred (foundation metadata concept)
A small (less than 1 cm) fluid-filled lesion, raised above the plane of surrounding skin Preferred (foundation metadata concept)
A small, solid lesion, less than 1 cm in diameter, raised above the surface of the surrounding skin and hence palpable Preferred (foundation metadata concept)
A substance capable of combining with a specific receptor on a cell and initiating the same reaction or activity typically produced by the binding endogenous substance Preferred (foundation metadata concept)
A substance such as a detergent that, when added to a liquid, reduces its surface tension, thereby increasing its spreading and wetting properties Preferred (foundation metadata concept)
A substance that causes irritation specifically tending to produce inflammation Preferred (foundation metadata concept)
A substance that forms a complex with metal ions or other substrates Preferred (foundation metadata concept)
A substance that increases the risk of neoplasms in humans or animals either by directly affecting DNA or inducing neoplasms by other mechanisms Preferred (foundation metadata concept)
A substance that is produced by a living organism and is toxic, noxious, or poisonous. Preferred (foundation metadata concept)
A substance that modifies the immune response or the functioning of the immune system. Preferred (foundation metadata concept)
A sudden paroxysm of abnormal motor and/or non-motor phenomenon with or without electrographic correlate, or a neonatal electrographic-only seizure (without clinical correlate) that occurs during the period from birth until 44 weeks postmenstrual age. Preferred (foundation metadata concept)
A surgical procedure to remove breast tissue while preserving the nipple and areola and the majority of the skin envelope. Preferred (foundation metadata concept)
A syndrome affecting the development of blood vessels, soft tissue and bone with three characteristic features: port-wine stain, abnormal overgrowth of soft tissues and bones and venous malformations. Caused by mutations in the PIK3CA gene. This gene provides instructions for making the p110 alpha (p110α) protein, which is a subunit of phosphatidylinositol 3-kinase (PI3K). The PIK3CA gene mutations associated with Klippel-Trenaunay syndrome alter the p110α protein. The altered subunit makes PI3K abnormally active, which allows cells to grow and divide continuously. Increased cell proliferation leads to abnormal growth of the bones, soft tissues, and blood vessels. This syndrome is almost always sporadic meaning it can occur in people with no history of the disorder in their family. Studies suggest that the condition results from gene mutations that are not inherited. Preferred (foundation metadata concept)
A syndrome marked by significant anxiety symptoms directly caused by a physical health condition, not classified as a mental disorder. This determination is based on the patient's history, physical examination or laboratory findings. These symptoms are not due to delirium, another mental disorder, or a psychological reaction to a severe medical diagnosis. Preferred (foundation metadata concept)
A transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain, regardless of whether focal, generalized, or unknown onset, whether aware or impaired awareness, and whether motor or nonmotor. Preferred (foundation metadata concept)
A type of cerebral palsy defined by increased tone and pathological reflexes resulting in an abnormal pattern of movement and posture. Preferred (foundation metadata concept)
A type of epilepsy that presents with generalized tonic-clonic seizures usually between 10 and 25 years of age in an otherwise normal adolescent or adult. The generalized tonic-clonic seizures are typically provoked by sleep deprivation. Other seizure types do not occur. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram must show generalized epileptiform discharges or capture a generalized tonic-clonic seizure and have a normal background. Preferred (foundation metadata concept)
A type of epilepsy with only focal onset epileptic seizures. Seizures can arise from a single location or multiple locations. Preferred (foundation metadata concept)
A type of epilepsy with only generalized onset epileptic seizures. Preferred (foundation metadata concept)
A type of immune mediated hypersensitivity process that represents the underlying mechanism of allergic conditions. Preferred (foundation metadata concept)
A type of non-immune hypersensitivity process that represents the underlying mechanism of pseudoallergic conditions. Preferred (foundation metadata concept)
A type of superficial inflammatory dermatitis occurring where two skin surfaces are in apposition. Intertrigo occurs in the skin fold and results from friction, heat, moisture and may lead to skin infection. Preferred (foundation metadata concept)
A very rare variant of diffuse large B-cell lymphoma mainly affecting middle-aged immunocompetent men with features of a consistent primary involvement of lymph nodes (mainly in the cervical and mediastinum lymph nodes) and with infrequent extra nodal involvement of the bone marrow and other extra-nodal sites (head and neck region, liver, spleen, and gastrointestinal tract). It has an aggressive disease course, and is associated with a poor prognosis. Preferred (foundation metadata concept)
A vesicle filled with leukocytes Preferred (foundation metadata concept)
A visual hallucination is the phenomenological experience of seeing something that is not physically present i.e. visual perception in the absence of an external stimulus and the corresponding sensory processing of the stimulus. Preferred (foundation metadata concept)
AA - Alcohol abuse Acceptable (foundation metadata concept)
AA - Alopecia areata Acceptable (foundation metadata concept)
AA - Aortic aneurysm Acceptable (foundation metadata concept)
AAA - Abdominal aortic aneurysm Acceptable (foundation metadata concept)
AACG - Acute angle closure glaucoma Acceptable (foundation metadata concept)
AAMD - Age related macular degeneration Acceptable (foundation metadata concept)
AAU - acute anterior uveitis Acceptable (foundation metadata concept)
ABC - Aneurysmal bone cyst Acceptable (foundation metadata concept)
ABMT - Autologous bone marrow transplant Acceptable (foundation metadata concept)
ABO HDN - ABO hemolytic disease of the newborn Acceptable (foundation metadata concept)
ABO and Rho(D) typing Preferred (foundation metadata concept)
ABO and Rho(D) typing (procedure) Preferred (foundation metadata concept)
ABO blood group Acceptable (foundation metadata concept)
ABO group phenotype Preferred (foundation metadata concept)
ABO group phenotype (finding) Preferred (foundation metadata concept)
ABO hemolytic disease of the newborn Acceptable (foundation metadata concept)
ABO isoimmunization of the newborn Acceptable (foundation metadata concept)

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