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900000000000508004: Great Britain 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
900000000001112010 Great Britain 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)
900000000001113017 GB English en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT model component module (core metadata concept)
900000000001114011 Great Britain 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)


1233160 members. Search Members:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
GB 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 severe congenital systemic autoimmune disease characterised by refractory diarrhoea, endocrinopathies, cutaneous involvement and infections. The syndrome usually develops during the first few days or weeks of life and affects exclusively boys. Caused by mutations in the FOXP3 gene (Xp11.23). This gene codes for a forkhead transcription factor which controls the development and function of CD4+ CD25+ regulatory T cells, a major lymphocyte population involved in downregulation of immune responses and self-tolerance. Transmission is X-linked recessive. Preferred (foundation metadata concept)
A severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility. The mode of transmission follows a Y-linked pattern, with incomplete penetrance, but as deletions are often associated with infertility, they generally occur de novo. Molecular diagnosis is made by PCR amplification of STS type sequences (sequence-tagged sites) from the AZFa, b, and c regions. All chromosome Y deletions do not necessarily lead to infertility: firstly, some deletions (especially some partial deletions) do not result in spermatogenesis defects; secondly, among men with severe oligospermia, some can father children without infertility treatment. Finally, when mature spermatozoa are found in the sperm or in the testicles, the infertility problem can be solved with medically assisted procreation techniques. However, there is a risk of transmitting the microdeletion to every male infant. Preferred (foundation metadata concept)
A severe disease with onset in infancy primarily associated with brain dysfunction combined with muscle weakness. Symptoms include hypotonia, failure to thrive, delayed development of mental and motor skills, severely impaired speech development, seizures, movement abnormalities, microcephaly and cerebral atrophy. All individuals with the disease have lactic acidosis. Also associated with congenital heart defects or arrhythmias, vision problems, hearing loss, hepatopathy and immune deficiency. Caused by mutation in the FBXL4 gene responsible for producing a protein found within mitochondria. Inherited in an autosomal recessive pattern. Preferred (foundation metadata concept)
A severe disorder with characteristics of muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. Since the first description of the disease in 1996, it has been described in less than 30 patients from 13 Italian (mainly Sardinian) families. Extensive paroxysmal muscular contractions in the face (resembling neonatal tetanus) develop after minimal stimuli. All patients described to date displayed facial anomalies, including a large face, chubby cheeks, a broad nose with anteverted nostrils and long philtrum and bilateral camptodactyly. Early in the neonatal period continuous hyperthermia develops (unrelated to infectious agents). Mutations in the CRLF1 gene are causative. Belongs to a group of conditions with overlapping features, including cold-induced sweating syndromes and Stüve-Wiedemann syndrome. The disease is transmitted as an autosomal recessive trait. Preferred (foundation metadata concept)
A severe early-onset form of axonal Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy. Onset occurs in the neonatal period or early infancy with a clinical picture including hypotonia, scoliosis, a hoarse voice, vocal cord paralysis and respiratory insufficiency. However, nerve conduction velocities and pathological findings from sural nerve biopsies are indicative of a predominantly axonal neuropathy with some demyelinating features. Caused by mutations in the GDAP1 gene (8q13.3), encoding a protein required for mitochondrial fission. Preferred (foundation metadata concept)
A severe fetal malformation syndrome with characteristics of craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities. Mostly present in families of Finnish descent. The syndrome also has characteristics of postaxial and preaxial polydactyly. Caused by mutations in HYLS1 (11q24.2) and KIF7 (15q26.1). Inheritance is autosomal recessive. Stillbirth or neonatal death is the rule, although rare cases with several months of survival have been reported. Preferred (foundation metadata concept)
A severe form of alpha-thalassaemia that is mostly lethal, and associated with severe long-term outcome and lifelong transfusions in survivors. It is characterized by fetal onset of generalised oedema, pleural and pericardial effusions, and severe hypochromic anaemia. Caused by deletion or inactivation of all four alpha-globin alleles leading to a severe deficiency in alpha-globin chains of Hb, and to the production of gamma-4 tetramers (Hb Bart's) during fetal life, and beta-4 tetramers (HbH) postnatally. Hb Bart's and HbH have increased oxygen affinity resulting in ineffective tissue oxygen delivery. The disease is mostly the result of combined, biallelic deletions in the HBA1 and HBA2 genes (16p13.3). The pattern of inheritance is autosomal recessive. Preferred (foundation metadata concept)
A severe form of astigmatism. Preferred (foundation metadata concept)
A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. Onset in the second or third decade has manifestations of ulceration and infection of the feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss. Tendon reflexes are only reduced at ankles and foot deformities including pes cavus or planus and hammer toes, appear in childhood. Preferred (foundation metadata concept)
A severe form of congenital disorders of N-linked glycosylation characterised by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of haemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3). Preferred (foundation metadata concept)
A severe form of developmental verbal apraxia with characteristics of a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters and comprehension delay. Hearing and intelligence are normal. Inheritance is autosomal dominant with full penetrance. Preferred (foundation metadata concept)
A severe form of lissencephaly with cerebellar hypoplasia with main features microcephaly of at least 3 standard deviations and a thick cortex associated with complete absence of the corpus callosum. Preferred (foundation metadata concept)
A severe form of lissencephaly with cerebellar hypoplasia with main features of severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death. Preferred (foundation metadata concept)
A severe form of microphthalmia with characteristics of a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma. Nanophthalmia is generally bilateral. Strabism is present in most patients. Mutations in the MFRP gene (11q23.1) have been found to be responsible for the hereditary form with recessive transmission. Chromosomal anomalies involving chromosome 11p and 2q11-14 have been identified for autosomal dominant forms of nanophthalmia. It may be inherited as an autosomal dominant or recessive trait, or may occur sporadically. Preferred (foundation metadata concept)
A severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behaviour, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability. Caused by heterozygous mutation in the KCNQ2 gene on chromosome 20q13. Preferred (foundation metadata concept)
A severe form of neuronal ceroid lipofuscinosis with onset at birth and characteristics of primary microcephaly, neonatal epilepsy and death in early infancy. It is a rare form of neuronal ceroid lipofuscinosis with only around 10 cases reported in the literature so far. Patients present with postnatal respiratory insufficiency, seizures immediately after birth and a lower than normal head circumference. Transmitted in an autosomal recessive manner and is caused by mutations in the CTSD gene (designated CLN10; 11p15.5) encoding the lysosomal enzyme cathepsin D. Preferred (foundation metadata concept)
A severe form of otopalatodigital syndrome spectrum disorder with characteristics of dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system and intestine) and poor survival. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation are less severely affected. Preferred (foundation metadata concept)
A severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes with a triad of movement, psychiatric and cognitive abnormalities. Prevalence and incidence are unknown but this disease is very rare, with fewer than 50 families reported worldwide. Patients may develop psychiatric abnormalities as the initial manifestation, with later appearance of chorea, parkinsonism and dystonia. The disease may evolve from chorea to a more bradykinetic, dystonic phenotype, or remain parkinsonian. Caused by expanded trinucleotide repeats of the JPH3 junctophilin 3 gene (16q24.3). Affected individuals have CTG/CAG repeat expansions of 41-59 triplets (normal population: 6-27). Follows an autosomal dominant pattern of inheritance. A relentlessly progressive disorder with a poor prognosis. Preferred (foundation metadata concept)
A severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. Preferred (foundation metadata concept)
A severe subtype of citrin deficiency characterised clinically by adult onset, recurrent episodes of hyperammonaemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behaviour, seizures and coma. Preferred (foundation metadata concept)
A severely disabling disease with manifestation of progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty. Familial forms appear to be very rare, with only three families identified so far. Age of onset in these familial cases ranges from 15-48. Transmission in familial cases is autosomal dominant and mutations in the type II collagen gene (COL2A1) have been detected in affected family members. Preferred (foundation metadata concept)
A sex chromosome aneuploidy where males receive an additional Y chromosome, and with clinical characteristics of tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder. Preferred (foundation metadata concept)
A sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). This disorder is associated with delayed speech, learning difficulties, developmental delay and facial dysmorphism. Although disease severity is variable, the learning difficulties and developmental delay are generally mild to moderate. Commonly associated facial features include hypertelorism, upslanting palpebral fissures, epicanthal folds and a flat nasal bridge. Other anomalies may include dental abnormalities, hypotonia and joint laxity, radioulnar synostosis, heart defects, hip dysplasia, and ovarian dysfunction. An increased susceptibility to infections during childhood has also been reported. Preferred (foundation metadata concept)
A sheet of cells are grown in culture in a laboratory for use as a biosynthetic dermal graft. Preferred (foundation metadata concept)
A short contemporaneous record of surgery, often followed by a complete and detailed procedure record Preferred (foundation metadata concept)
A short-rib dysplasia with characteristics of narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes. In rare cases, postaxial polydactyly may also be present. The narrow thorax may cause neonatal respiratory failure, and may be associated with persistent respiratory manifestations. The growth rate is variable but may be almost normal. Intellectual development is normal. The molecular basis of the syndrome has been partially elucidated indicating involvement of the IFT80 (3q25.33), DYNC2H1 (11q22.3), WDR19 (4p14) and TTC21B (2q24.3) genes, each encoding an intraflagellar transport protein. The syndrome is transmitted as an autosomal recessive trait. Preferred (foundation metadata concept)
A short-rib dysplasia with characteristics of thoracic dystrophy, laryngeal stenosis and a small pelvis. Less than 10 cases have been reported in the literature so far. Patients present with severe respiratory distress (requiring intubation) during the neonatal period. The rib shortening is less severe than in Jeune syndrome and the thorax is characteristically small, narrow and bell-shaped. The pelvis is reduced in all dimensions and the combination of the thorax anomalies and the small pelvis give the appearance of a protruding abdomen. Subglottic stenosis has also been described but it remains unclear whether this is a congenital anomaly or is secondary to long-term intubation. Transmission is autosomal dominant. Preferred (foundation metadata concept)
A sighted guide is a person that escorts a visually impaired individual and assists them with for example reading of signs. Preferred (foundation metadata concept)
A simple laceration is one without any significant debris or contamination which can be repaired by a single-layer repair Preferred (foundation metadata concept)
A single anterior tooth pair is in crossbite and is also impinging on the soft tissue, resulting in destruction of the oral mucosa adjacent to one or both teeth involved. Preferred (foundation metadata concept)
A skeletal dysplasia with characteristics of epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness and stubby digits. It has been described in one family in which the mother and three of her four children were affected. The condition is caused by a mutation in the COL2A1 gene (12q13.11-q13.2) and is transmitted in an autosomal dominant manner. Preferred (foundation metadata concept)
A skeletal dysplasia with characteristics of fusion of the carpal and tarsal bones and complex anomalies of the fingers and toes. It has been described in less than 30 patients from three unrelated families. Other manifestations include prominence of the sternum with variable pectus excavatum, lumbosacral spina bifida occulta, minor craniofacial anomalies and mild intellectual deficit. This syndrome is transmitted as an autosomal dominant trait with full penetrance. The causative gene has been mapped to chromosome region 2q36. Preferred (foundation metadata concept)
A skeletal dysplasia with characteristics of multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism. It has been described in 4 children from one Omani family. Dysmorphic features consist of macrocephaly with frontal bossing, hypertelorism, flat malar region, low-set ears and short neck. The disease gene has been mapped to the telomeric region of the long arm of chromosome 15. The condition is transmitted in an autosomal recessive manner. Preferred (foundation metadata concept)
A skeletal dysplasia with characteristics of short limbs, dysmorphic facies and diagnostic radiographic findings. Less than 25 affected patients have been reported. Atelosteogenesis III results from missense mutations or small in-frame deletions in the FLNB gene reported in exons 2-5, 13 and 27-33 resulting in the translation of filamin B protein with altered biochemical properties Preferred (foundation metadata concept)
A skeletal dysplasia with clinical characteristics of short stature of variable degrees with short limbs, brachydactyly and narrow thorax. Affected patients have normal intelligence. Radiographically, cone-shaped epiphyses are observed in the hands, the proximal part of the femur and to a variable degree, at the shoulders, knees, and ankles. Homozygous mutations in the Indian hedgehog homolog gene (IHH; 2q33-q35), outside the region where brachydactyly type A-1 mutations are clustered, have been identified in affected patients. The condition is transmitted as an autosomal recessive trait. Preferred (foundation metadata concept)
A skeletal dysplasia with distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (including irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses). Preferred (foundation metadata concept)
A skin graft obtained by using a skin biopsy punch. Preferred (foundation metadata concept)
A slowly progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that becomes evident during the third decade of life. The syndrome has been described in three patients from a consanguineous family (one brother, one sister and a male cousin). The disease manifests during childhood with pes cavus and tendo-achilles contractures. A disorder of gait, due to ataxia and spasticity, develops during adulthood. Contrarily to Refsum disease, plasmatic phytanic and pristanic acid levels as well as alpha-oxidation enzymatic activity are normal. Transmission is autosomal recessive. The disease was mapped on chromosome 20 (20p11.21-q12). 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 benign tumour with clear-cut border above surrounding tissue. Preferred (foundation metadata concept)
A small vessel vasculitis restricted to the lungs that may induce diffuse alveolar haemorrhage without any underlying systemic disease. Preferred (foundation metadata concept)
A small, circular, skin graft obtained by pinching up a cone of skin with a needle or pulling up on a hair, and cutting it free. 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 small-vessel vasculitis presenting with palpable purpura and urticarial lesions which predate the purpuric lesions most frequently observed on the legs. Systemic symptoms including fever, cough, haemoptysis, sinusitis, arthralgia, arthritis, myalgia, abdominal pain, diarrhoea, haematochezia, paraesthesia, weakness, and haematuria may be observed. Can be idiopathic (up to 50% of cases) or secondary to infection, medications (such as antituberculosis medication), collagen vascular diseases, or neoplasms. Preferred (foundation metadata concept)
A solid dose form consisting of a long narrow strip of flexible material. Preferred (foundation metadata concept)
A solid dose form consisting of dry aggregates of powder particles that are sufficiently resistant to withstand handling. Preferred (foundation metadata concept)
A solid dose form consisting of large granules, usually formed by extrusion. Preferred (foundation metadata concept)
A solid dose form consisting of one or more particulate solids of varying degrees of fineness. Preferred (foundation metadata concept)
A solid dose form that is rectangular in shape. Preferred (foundation metadata concept)
A solid dose form usually rod or conical in shape. Preferred (foundation metadata concept)
A solid preparation for homoeopathic use, obtained from sucrose, lactose or other suitable excipients. Preferred (foundation metadata concept)
A solid single-dose form consisting of a suitable absorbent material. Pledgets are intended for insertion into a body or application to a body surface. Preferred (foundation metadata concept)
A solid single-dose form consisting of a suitable material intended for insertion into a body cavity for a limited time prior to removal. Preferred (foundation metadata concept)
A solid single-dose form consisting of a suitable material. Sponges are intended for insertion into a body cavity for a limited time prior to removal. Preferred (foundation metadata concept)
A solid single-dose form of active substance(s) dispersed or dissolved in a suitable basis that may be soluble or dispersible or may melt at body temperature. Preferred (foundation metadata concept)
A solid single-dose form that is a shell made of gelatin or other substances. The contents of the shell may be a solid, semi-solid or liquid. Preferred (foundation metadata concept)
A solid single-dose form that is a single layer or multilayer sheet of suitable material(s) intended to disperse rapidly. Preferred (foundation metadata concept)
A solid single-dose form that is a wafer enclosing a unit dose. Preferred (foundation metadata concept)
A solid single-dose form that is flexible and intended to be applied to a body surface to release the active substance(s) over a period of time. Preferred (foundation metadata concept)
A solid single-dose form that is soft or flexible and prepared by moulding of mixtures containing natural or synthetic polymers or gums. Preferred (foundation metadata concept)
A solid single-dose form usually prepared by moulding consisting of active substance(s) dispersed or dissolved in a suitable basis that may be soluble or dispersible or may melt at body temperature. Preferred (foundation metadata concept)
A solid single-dose form with a gum-like consistency. Preferred (foundation metadata concept)
A solid single-dose preparation made by freeze-drying of a liquid or semi-solid preparation. Preferred (foundation metadata concept)
A solid single-dose preparation obtained by compressing uniform volumes of particulate solids or by extrusion or moulding. Tablets may be single layer tablets resulting from a single compression of particles and or multilayer tablets consisting of concentric or parallel layers obtained by successive compressions of particles of different composition. Preferred (foundation metadata concept)
A solid single-dose preparation of small size and round or oval in shape. Preferred (foundation metadata concept)
A solid, sterile single-dose form suitable for implantation that may be provided with an administration device. Implants are intended for release over an extended period of time. Preferred (foundation metadata concept)
A solid, sterile single-dose form suitable for insertion into a body cavity that may be provided with an administration device. Inserts are intended for release over an extended period of time. Preferred (foundation metadata concept)
A somatic dysfunction in which the innominate bone is rotated posteriorly around a transverse axis relative to the sacrum. The innominate moves more freely in posterior rotation and is restricted in anterior rotation. The anterior superior iliac spine (ASIS) is positioned superiorly and the posterior superior iliac spine (PSIS) is positioned inferiorly when compared to the contralateral landmarks. Preferred (foundation metadata concept)
A sore at urethral meatus Preferred (foundation metadata concept)
A sore at urethral meatus (finding) Preferred (foundation metadata concept)
A speciality of medicine focused on restoring health and functional abilities after acute illness or injury. Preferred (foundation metadata concept)
A spectrum of diseases with manifestation of overgrowth that results from somatic activating mutations in the phosphatidylinositol-3-kinase/AKT/mTOR pathway. Preferred (foundation metadata concept)
A split thickness skin graft processed through a skin mesher which makes apertures onto the graft, allowing it to expand to many times its size. Preferred (foundation metadata concept)
A state of being wherein a person has difficulty fully meeting current and/or ongoing financial obligations and/or does not feel secure in their financial future. Preferred (foundation metadata concept)
A state of matter where particles conform to the shape of their container and expand to fill the container. Preferred (foundation metadata concept)
A state of matter where particles conform to the shape of their container and keep a constant volume independent of pressure (if temperature stable). Preferred (foundation metadata concept)
A state of matter where particles form a definite shape and support their own weight but have the ability to flow like a liquid when pressure is applied. Preferred (foundation metadata concept)
A state of matter where particles form a stable, definite shape that can only change by force (e.g. break, cut). Preferred (foundation metadata concept)
A status of being neither employed nor unemployed for example students, the retired, carers and also those who are not in work or seeking work. Preferred (foundation metadata concept)
A status of immunisation which is suboptimal for a person. Preferred (foundation metadata concept)
A stent using a collagen derived noninflammatory gelatin material. Preferred (foundation metadata concept)
A stepdown or lower dependency care unit from cardiac intensive care. Preferred (foundation metadata concept)
A sterile implantable device intended to be used as an attachment for a resurfacing humeral head prosthesis joint to treat a disease-damaged (e.g., arthritic) shoulder joint. It consists of a metallic peg [e.g., titanium (Ti), cobalt-chrome (Co-Cr), stainless steel] inserted into the humeral head so that the prosthesis on the humeral articulating surface can be attached. Preferred (foundation metadata concept)
A sterile, battery-powered, electromechanical device assembly intended to compensate for impaired hearing by transmitting vibrations, from transduced sound waves, through the skull to the inner ear. It typically consists of a self-contained microphone, amplifier, and vibrator mounted on a titanium (Ti) post which is implanted into the skull, typically the mastoid bone, and protrudes through the skin. Sound waves are converted into electrical signals and sent to the vibrator, which transmits vibrations directly through bone to the inner ears for hearing. It is used to treat hearing impairment due to middle and/or outer ear obstructive pathologies or types of conductive hearing loss. Preferred (foundation metadata concept)
A sterile, flexible, single-lumen tube intended to be introduced into the trachea of a neonate for the administration of exogenous surfactant as part of pulmonary surfactant therapy. Preferred (foundation metadata concept)
A string of characters that may be parsed and executed to perform a query. Preferred (foundation metadata concept)
A structurally abnormal heart condition, without symptoms of heart failure, that confers a high risk of progression to symptomatic heart failure. Preferred (foundation metadata concept)
A structure damaged by an external force Preferred (foundation metadata concept)
A subdivision of inferior hypogastric plexus, maybe derived from it, that supplies nerves to the rectum Preferred (foundation metadata concept)
A subdivision of the enteric plexus that lies within the tunica muscularis of the intestinal tract Preferred (foundation metadata concept)
A subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbour unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain). Preferred (foundation metadata concept)
A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposide, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukaemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukaemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement. Preferred (foundation metadata concept)
A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. The neoplastic cells typically harbour unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure. 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 product produced by living cells that circulates in body fluids (as blood) or sap and produces a specific effect on the activity of cells usually remote from its point of origin 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 acts within the body to reduce the physiological activity of another chemical substance. Preferred (foundation metadata concept)
A substance that alters biochemical processes in a cell, as by decreasing or increasing the activity of an enzyme Preferred (foundation metadata concept)
A substance that can disturb the development of an embryo or fetus and cause a birth defect in the child or halt the pregnancy outright Preferred (foundation metadata concept)
A substance that causes irritation specifically tending to produce inflammation Preferred (foundation metadata concept)
A substance that competes with, replaces or inhibits a specific metabolite of a cell and thereby interferes with the cell's normal metabolic functioning. Preferred (foundation metadata concept)

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