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

SNOMED CT Concept\SNOMED CT Model Component\Foundation metadata concept (foundation metadata concept)\Reference set\Language type reference set (foundation metadata concept)\English [International Organization for Standardization 639-1 code en] language reference set (foundation metadata concept)\US English

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:

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 synthetic graft of skin is when the graft consists of synthetic materials, for example, silicone graft.	Preferred (foundation metadata concept)
A system of medicine which aims at discovering the exact nature of the relationship between the emotions and bodily function, affirming the principle that the mind and body are one.	Preferred (foundation metadata concept)
A systolic blood pressure ≥150 mm Hg or diastolic blood pressure ≥90 mm Hg while lying down.	Preferred (foundation metadata concept)
A tablet covered with one or more layers of (mixtures of) substances (e.g. sugars and waxes) making the coating thicker than a film; the release characteristics of the active substance in the dose form remain "Intrinsic" (i.e. conventional release).	Preferred (foundation metadata concept)
A target or goal is a parameter whose value is to be achieved, typically through some intervention.	Preferred (foundation metadata concept)
A targeted cancer treatment that delivers radiation to select types of cells using a radioligand. A radioligand has two components, a radioisotope, in this case, lutetium (177-Lu) labeled somatostatin analog and a cell-targeting compound known as a ligand.	Preferred (foundation metadata concept)
A tear with a flap displaced to the vertical or horizontal direction.	Preferred (foundation metadata concept)
A technique in which the double layer of peritoneum that invests the intestines and its associated vascular, neural and lymphatic structures is relieved of tension from the attachments to the posterior wall of the abdomen which include the root of the mesentery, hepatic and splenic flexures and ascending and descending colon.	Preferred (foundation metadata concept)
A technique of brachytherapy that directs the radiation into the tumor and away from healthy tissue, for example, by incorporation of static or dynamic metallic shields inside brachytherapy applicators.	Preferred (foundation metadata concept)
A technique of external beam radiation therapy where both photon and particle based beams are used to deliver the radiation therapy.	Preferred (foundation metadata concept)
A technique of neutron radiation therapy with conformal application of neutron beams that result in substantial reduction in normal tissue dose.	Preferred (foundation metadata concept)
A technique that consists of intermittent compression of the thoracic cage.	Preferred (foundation metadata concept)
A technique used to void urine from the bladder by exerting manual pressure on the abdomen at the location of the bladder just below the navel.	Preferred (foundation metadata concept)
A temporary situation during which the apex of the tooth root demonstrates the radiographic appearance of resorption following trauma. The finding generally returns to normal following repair within a period of one year.	Preferred (foundation metadata concept)
A teratogenic disorder associated with intrauterine exposure to phenobarbital during the first trimester of pregnancy. Infants are usually asymptomatic but at an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism.	Preferred (foundation metadata concept)
A teratogenic disorder caused by exposure to retinoid during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies.	Preferred (foundation metadata concept)
A teratogenic embryofetopathy that results from maternal exposition to methimazole in the first trimester of pregnancy. Methimazole is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, methimazole may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short up slanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia.	Preferred (foundation metadata concept)
A term defining a group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Disease onset depends on the specific disorder. The most important component seen in this group are malignancies.	Preferred (foundation metadata concept)
A term used to describe the impact of intrathoracic pressure changes on lymphatic flow.	Preferred (foundation metadata concept)
A therapeutic treatment which involves connecting with nature through activities to support and improve wellbeing.	Preferred (foundation metadata concept)
A therapy that induces intermittent intra-abdominal vagal blocking with the use of high frequency electrical energy.	Preferred (foundation metadata concept)
A thick split thickness graft that consists of the epidermis and less than the entire thickness of the dermis. Split thickness graft of skin can be categorized further as thin, intermediate, or thick based on the thickness of the harvested graft.	Preferred (foundation metadata concept)
A thin split thickness graft that consists of the epidermis and less than the entire thickness of the dermis. Split thickness graft of skin can be categorized further as thin, intermediate, or thick based on the thickness of the harvested graft.	Preferred (foundation metadata concept)
A tissue texture abnormality characterized principally by a palpable sense of sponginess in the tissue, interpreted as resulting from congestion due to increased fluid content.	Preferred (foundation metadata concept)
A tongue position where the tongue is pulled back in the mouth altering the shape of the sublingual space.	Preferred (foundation metadata concept)
A tooth which erupts after birth in the neonatal period.	Preferred (foundation metadata concept)
A tooth whose root canal system has been filled in three dimensions and where a surplus of material extrudes beyond the foramina.	Preferred (foundation metadata concept)
A tooth whose root canal system has been inadequately obturated in any dimension, leaving large reservoirs for recontamination.	Preferred (foundation metadata concept)
A topical route that begins on the skin and has the propensity for systemic absorption via the dermal layer.	Preferred (foundation metadata concept)
A topical route that begins on the skin and that has the propensity to be absorbed through the skin.	Preferred (foundation metadata concept)
A topical route that begins on the skin or cutaneous wounds and/or nails and/or hair in order to obtain a local effect.	Preferred (foundation metadata concept)
A total or near-total absence of Willebrand factor (VWF) in the plasma and cellular compartments leading to a profound deficiency of plasmatic factor VIII (FVIII). It is the most severe form of von Willebrand disease. Onset usually occurs during the neonatal period or in infancy, but later onset has been reported. The disease is caused by homozygous or compound heterozygous mutations (mainly missense or large mutations) in the VWF gene (12p13.3) that lead to synthesis of a truncated protein or allele silencing. The pattern of inheritance is autosomal recessive.	Preferred (foundation metadata concept)
A toxin used by animals and injected into their victims by a bite or sting	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 transplantation where the donor and recipient spots are from antigenically distinct individuals of the same species.	Preferred (foundation metadata concept)
A transplantation where the donor and recipient spots are part of genetically identical organisms.	Preferred (foundation metadata concept)
A transplantation where the donor and recipient spots are part of the same organism	Preferred (foundation metadata concept)
A treatment approach that utilizes a localized form of radiation that treats only the lumpectomy bed plus a 1-2 cm margin.	Preferred (foundation metadata concept)
A treatment method in which a dysfunctional body region is addressed with a combination of neutral positioning, application of an activating force (compression, torsion, or distraction), and placement into position of ease.	Preferred (foundation metadata concept)
A treatment method in which steady pressure is applied to soft tissues to reduce reflex activity and promote tissue relaxation.	Preferred (foundation metadata concept)
A treatment method in which the osteopathic practitioner moves the dysfunctional fascial tissues in response to a sensation of ease and bind in a dynamic continuous process.	Preferred (foundation metadata concept)
A treatment method intended to normalize neuromuscular function by applying a manual oscillatory force, which may be combined with any other ligamentous or myofascial technique.	Preferred (foundation metadata concept)
A treatment strategy where the initial movements are indirect; as the technique is completed the movements change to direct forces; A manipulative sequence involving two or more different osteopathic manipulative treatment method (e.g., Spencer technique combined with muscle energy technique).	Preferred (foundation metadata concept)
A true combined periodontal and endodontic lesion forms when a periodontal lesion and an endodontic lesion develop independently, then these two separate lesions join at the root surface.	Preferred (foundation metadata concept)
A two dimensional cross section view made up of numerous brightness mode scan lines.	Preferred (foundation metadata concept)
A type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. Caused by homozygous or heterozygous mutation in the tenascin-XB gene on chromosome 6p21.	Preferred (foundation metadata concept)
A type of Oculocutaneous albinism with varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm. Cutaneous hypopigmentation is often visible at birth and signs of nystagmus and strabismus present in the first year of life. Visual changes are not progressive. Caused by mutations in the membrane-associated transporter protein (MATP) gene, SLC45A2, encoding a transporter protein which is thought to mediate melanin synthesis. Inheritance is autosomal recessive.	Preferred (foundation metadata concept)
A type of allergic process that results in an immune response to a foreign antigen.	Preferred (foundation metadata concept)
A type of arthrogryposis with characteristics of congenital cleft palate, microcephaly, craniostenosis and arthrogryposis. Additional features include facial dysmorphism. Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983.	Preferred (foundation metadata concept)
A type of cancer treatment that targets specific genes and proteins to prevent cancer cells surviving, growing or duplicating e.g. small molecule drugs or monoclonal antibodies.	Preferred (foundation metadata concept)
A type of central congenital hypothyroidism with characteristics of low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to thyrotropin-releasing hormone (TRH). It may or may not be observed from birth. The clinical manifestations are often 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. More specific symptoms and signs often do not develop until several months of age. Common clinical features and signs include decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice. Slow linear growth and developmental delay are usually apparent by 4-6 months of age. Caused by mutations in the TRH receptor gene (TRHR; 8q23).	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 classical xanthinuria, this disease is a rare autosomal recessive disorder of purine metabolism with characteristics of isolated deficiency of xanthine dehydrogenase, leading to urolithiasis, hematuria, renal colic and urinary tract infections. Some patients are asymptomatic, others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.	Preferred (foundation metadata concept)
A type of epilepsy associated with developmental impairment where the developmental impairment is due to both the underlying etiology, independent of epileptic activity, and the superimposed epileptic encephalopathy. An epileptic encephalopathy is where the epileptic activity itself contributes to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone.	Preferred (foundation metadata concept)
A type of epilepsy characterized by frequent epileptiform activity associated with developmental slowing and often regression on the background of previously normal development. In this type of epilepsy the frequent seizures and/or epileptiform discharges, rather than underlying etiology is thought to be the only cause of developmental impairment.	Preferred (foundation metadata concept)
A type of epilepsy that presents between 2 and 14 years of age with the triad of frequent eyelid myoclonia, with or without absences, induced by eye closure and photic stimulation. Eyelid myoclonia is often most prominent on awakening. Generalized tonic-clonic seizures occur in the majority of cases but are usually infrequent. The electroencephalogram shows bursts of 3 to 6 Hz generalized spike-wave or polyspike-and-wave which are often triggered by eye closure and/or photic stimulation, with a normal background.	Preferred (foundation metadata concept)
A type of epilepsy that presents with daily typical absence seizures usually between 4 to 10 years of age in an otherwise normal child. Absence seizures are brief but may occur in clusters and are provoked by hyperventilation. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 2.5 to 4 Hz generalized spike-wave and a normal background.	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 that presents with myoclonic epileptic seizures between 4 months and 3 years of age, in an otherwise normal infant. The myoclonic epileptic seizures may be activated by sudden noise, startle, or touch, and less commonly by photic stimulation. The electroencephalogram must capture generalized epileptiform discharges or myoclonic epileptic seizures and have a normal background.	Preferred (foundation metadata concept)
A type of epilepsy that presents with myoclonic epileptic seizures, usually between 10 and 24 years of age, in an otherwise normal adolescent or adult. Generalized tonic-clonic seizures occur in greater than 90 percent of individuals and absence seizures occur in a third. Seizures typically occur shortly after waking and when tired. Sleep deprivation is an important provoking factor. Photosensitivity is common. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 3 to 5.5 Hz generalized spike-wave and polyspike-wave and a normal background.	Preferred (foundation metadata concept)
A type of epilepsy that presents with myoclonic-atonic seizures usually between 2 to 6 years of age. Other generalized seizure types which may be seen in this syndrome include atonic, myoclonic, generalized tonic-clonic seizures, tonic and absence seizures. Nonconvulsive status epilepticus is common. Development prior to seizure onset is normal in two thirds of cases. These children typically show developmental stagnation or even regression during the active seizures (stormy) phase, which improves once seizures are controlled. The electroencephalogram shows generalized 2 to 6 Hz spike-wave or polyspike-and-wave abnormalities, with normal background.	Preferred (foundation metadata concept)
A type of epilepsy that presents with typical absence seizures between 9 and 13 years of age in an otherwise normal adolescent. The typical absence seizures usually occur less than daily in the untreated state and are provoked by hyperventilation in 87 percent of cases. Generalized tonic-clonic seizures are seen in greater than 90 percent of cases, most commonly beginning shortly after onset of absence seizures. Myoclonic seizures do not occur. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 3 to 5.5 Hz generalized spike-wave with a normal background.	Preferred (foundation metadata concept)
A type of epilepsy with both generalized and focal onset epileptic seizures.	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 familial infantile gigantism caused by microduplication of Xq26.3. Onset usually occurs in the first year of life in previously normal infants. Patients present with gigantism and may associate acromegalic features (e.g. coarse facial features, frontal bossing, prognathism, increased interdental space) as well as marked enlargement of hands and feet, soft tissue swelling, appetite increase and acanthosis nigricans. May present as a sporadic condition or as familial isolated pituitary adenomas.	Preferred (foundation metadata concept)
A type of hereditary spastic paraplegia with usual characteristics of pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (more than 30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.	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 intensity modulated radiation therapy technique where the radiotherapy machine rotates around the patient, radiating the target in a complete three dimensional manner with variable speed and/or dose rate.	Preferred (foundation metadata concept)
A type of isolated punctate hereditary palmoplantar keratoderma with characteristics of multiple asymptomatic 1 to 2 mm-long, firm, hyperkeratotic projections (spiny keratosis) on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically compact columnar parakeratosis over hypo or agranular epidermis is observed.	Preferred (foundation metadata concept)
A type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.	Preferred (foundation metadata concept)
A type of multiple epiphyseal dysplasia manifesting with early onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Specific features include normal stature and lesser incidence of gait abnormalities. Follows an autosomal dominant mode of transmission.	Preferred (foundation metadata concept)
A type of nemaline myopathy only observed in several families of the Amish community. It has a neonatal onset and patients present with hypotonia associated to contractures, a severe pectus carinatum, and tremor that subside after 2-3 months of age. The causative gene is TNNT1 (19q13.4) and transmission follows an autosomal recessive pattern.	Preferred (foundation metadata concept)
A type of nemaline myopathy that shows features of typical nemaline myopathy in neonates with a more severe progression. Neonates present with spontaneous anti-gravity movements and active respiratory muscles, but with a progressive generalized weakness which prevents achievement of gross motor milestones or leads to loss of ambulation and/or independent respiration by age 11 years. Children often develop joint contractures. The ACTA1 (1q42.13), NEB (2q22) or TPM3 (1q21.2) genes have been associated with this disease. The transmission pattern of the disease is autosomal recessive or dominant.	Preferred (foundation metadata concept)
A type of nemaline myopathy with characteristics of distal muscle weakness and sometimes slowness of muscle contraction. Onset is around 10 years of age, with initial presentation of symmetric weakness of ankle dorsiflexion and foot drop, or a general slowness of muscle contraction. All movements at the ankle and more proximal limb muscles may be disturbed. Weakness is slowly progressive. Facial, respiratory and cardiac muscles are generally normal, but patients are unable to jump or run because of muscle weakness or slowness. This form of nemaline myopathy is caused by mutations in the ACTA1 (1q42.13), NEB (2q22), TPM2 (9p13.3) or TPM3 (1q21.2) genes. Transmission follows an autosomal dominant pattern.	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 oculocutaneous albinism found in one Pakistani family to date, with characteristics of white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity. Affects males and females equally. Mapped to a locus on chromosome 4q24 but the gene has not yet been discovered.	Preferred (foundation metadata concept)
A type of oculocutaneous albinism recently discovered in one Chinese family, with characteristics of light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity. Caused by mutations in the SLC24A5 gene (15q21.1).	Preferred (foundation metadata concept)
A type of oculocutaneous albinism with characteristics of mild hypopigmentation of the skin, hair, and eyes with moderate reduction of visual acuity and nystagmus. The ocular phenotype includes moderate foveal hypoplasia, iris transillumination and hypopigmentation of the retina.	Preferred (foundation metadata concept)
A type of primary congenital hypothyroidism a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis. Clinical manifestations are those of other forms of congenital hypothyroidism. In addition to features of hypothyroidism, patients can present with goiter. Caused by hereditary defects in the steps of thyroid hormone synthesis and secretion, the majority of which are transmitted in an autosomal recessive manner but at least one condition has autosomal dominant inheritance.	Preferred (foundation metadata concept)
A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to thyroid stimulating hormone (TSH). Clinical manifestations are those of other forms of congenital hypothyroidism. Goiter is always absent. Caused by mutations in the TSH receptor gene (TSHR, 14q31) resulting in resistance to TSH, which causes a reduction in thyroid hormone production. Mutations in TSHR may also cause thyroid hypoplasia.	Preferred (foundation metadata concept)
A type of primary hyperaldosteronism resulting from a benign neoplasm of the adrenal gland. The adrenal neoplasm increases production of aldosterone. Excess aldosterone causes the kidneys to retain more salt than usual resulting in increases in body fluid levels and blood pressure. The disease is caused by mutations in one of several genes. The most commonly mutated gene is KCNJ5, accounting for an estimated 40 percent of the neoplasms, followed by the CACNA1D and ATP1A1 genes. Changes in other genes cause a small percentage of cases with additional unidentified genes involved in the condition. The disease is generally not inherited but may arise from a mutation occurring after conception.	Preferred (foundation metadata concept)
A type of progressive familial intrahepatic cholestasis, this disease is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Onset occurs in the neonatal period. Clinical signs of cholestasis usually appear in the first months of life with recurrent or permanent jaundice associated with hepatomegaly and severe pruritus. Patients usually develop fibrosis and end-stage liver disease before adulthood. PFIC2 is due to mutations in the ABCB11 gene (2q24) encoding the bile salt export pump (BSEP) protein resulting in impaired biliary bile acid secretion which leads to decreased bile flow and bile salt accumulation in hepatocytes with ongoing severe hepatocellular damage.	Preferred (foundation metadata concept)
A type of pseudohypoparathyroidism with characteristics of localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance. Severity of symptoms can vary greatly between patients and even among kindreds. The majority of cases are sporadic, but an autosomal dominant transmission has also been described. About 70% of patients display methylation defects, sporadic or genetic-based, at GNAS (20q13.2-q13.3) differentially methylated regions (DMRs).	Preferred (foundation metadata concept)
A type of pseudohypoparathyroidism with characteristics of resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy and normal expression of the Gs protein with a normal urinary cAMP response. To date no specific genetic alteration responsible for this disorder has been detected. It has been hypothesized that in most cases it may be an acquired defect secondary to vitamin D deficiency such as in misdiagnosed secondary renal hyperparathyroidism.	Preferred (foundation metadata concept)
A type of reference set that allocates an order to a set of SNOMED CT associations.	Preferred (foundation metadata concept)
A type of reference set that allocates an order to a set of SNOMED CT components.	Preferred (foundation metadata concept)
A type of resorption which is self-limiting and usually occurs following trauma. The disorder manifests as small superficial lacunae in the cementum and may extend in the outermost layer of dentin.	Preferred (foundation metadata concept)
A type of severe combined immunodeficiency disease characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation. Prevalence is unknown. Results from null mutations in the DCLRE1C gene (10p13) that lead to a defect in the V(D)J recombination and thus to an early arrest of both B and T cell maturation. Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A type of solid dose form intended to dissolve or disintegrate slowly in the mouth while being sucked.	Preferred (foundation metadata concept)
A type of solid dose form prepared by compression intended to dissolve or disintegrate slowly in the mouth while being sucked.	Preferred (foundation metadata concept)
A type of solid dose form prepared by molding and intended to dissolve or disintegrate slowly in the mouth while being sucked.	Preferred (foundation metadata concept)
A type of spina bifida aperta that is usually caused by a vertebral defect associated with a superficial fatty mass (lipoma or fatty tumor) that merges with the lower level of the spinal cord.	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 type of supernumerary tooth which has the morphology of a normal fully formed tooth.	Preferred (foundation metadata concept)
A type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation. The disease usually presents at birth but can be discovered at any time during life and thus can affect all ages. Familial thrombocytosis is caused by germline mutations in the THPO gene (3q26.3-q27) or in the MPL (MPL S505N) gene (1p34).	Preferred (foundation metadata concept)
A type of transient congenital hypothyroidism a thyroid hormone deficiency that is not permanent. Patients may present with symptoms similar to those of permanent congenital hypothyroidism or they may be asymptomatic. It is caused by the transfer of maternal thyroid stimulating hormone (TSH) blocking antibodies, which can block the TSH receptor in the neonatal thyroid resulting in hypothyroidism in the infant. The effect can last up to 3-6 months after birth as maternal antibody levels fall. Treatment with l-thyroxine is usually required during this period.	Preferred (foundation metadata concept)
A unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females.	Preferred (foundation metadata concept)
A uniparental disomy of chromosome 1 of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only the mother is a carrier.	Preferred (foundation metadata concept)
A uniparental disomy of chromosome 13 of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only the mother is a carrier.	Preferred (foundation metadata concept)
A uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.	Preferred (foundation metadata concept)

Start Previous Page 169 of 12891 Next End

Reference Sets

Reference set descriptor

Back to Start

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)