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 very rare developmental defect with connective tissue involvement disorder that has characteristics of tall stature, inguinal hernia, facial dysmorphism (including a long, triangular face, prominent forehead, telecanthus, downslanting palpebral fissures, bilateral ptosis, everted lower eyelids, large ears, long nose, full, everted vermilions, narrow and high arched palate, dental crowding), and radiologic evidence of advanced bone age. Additional manifestations include hyperextensible joints, long digits, mild muscle weakness, myopia, and foot deformities (such as hallux valgus, talipes equinovarus).	Preferred (foundation metadata concept)
A very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies.	Preferred (foundation metadata concept)
A very rare disorder belonging to the heterogeneous group of genetic fibromatoses and with characteristics of progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid and adrenal glands. Caused by mutations in anthrax toxin receptor 2 gene (ANTRX2) on chromosome 4q21. Transmitted as an autosomal recessive trait.	Preferred (foundation metadata concept)
A very rare disorder which is probably hereditary. It is not caused by a disorder of disaccharidease activity or by impairment of monosaccharide transport but rather by abnormal permeability of lactose through the gastric mucosa.	Preferred (foundation metadata concept)
A very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976.	Preferred (foundation metadata concept)
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.	Preferred (foundation metadata concept)
A very rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea (requiring parenteral nutrition and disappearing at fasting) due to a lack of intestinal enteroendocrine cells. It is associated with early-onset (within the first weeks of life) dehydration, metabolic acidosis and diabetes mellitus (that can develop until late childhood). Patient may display various degrees of pancreatic insufficiency that does not explain diarrhea, as it is not reduced with pancreatic enzyme supplementation. Central hypogonadism (developing in the second decade), as well as an association with celiac disease have been reported.	Preferred (foundation metadata concept)
A very rare genetic necrotic bone disorder with clinical characteristics of painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course.	Preferred (foundation metadata concept)
A very rare hepatic and biliary tract neoplasm with a growth pattern resembling that found in hepatocellular carcinomas and cholangiocarcinomas but presenting atypical histological and immunohistochemical features (such as trabecular, organoid, microcystic and/or blastemal-like architecture and inhibin A, cytokeratin 7 and/or cytokeratin 19 positivity) that do not allow a formal diagnosis of the more common aforementioned liver cancers. Patients may present abdominal distension and pain, a palpable abdominal mass and elevated liver enzymes.	Preferred (foundation metadata concept)
A very rare inborn error of metabolism disorder with a highly variable phenotype. Typical characteristics are neonatal to infancy-onset of seizures, psychomotor delay and abnormal muscle tone that may include hypo and/or hypertonia, resulting in generalized weakness, dystonic movements, and/or progressive respiratory distress, associated with severe lactic acidosis and elevated lactate, ketoglutarate and 2-oxoacids in urine. Additional manifestations may include dehydration, vomiting, signs of liver dysfunction, extrapyramidal signs, spastic tetraparesis, brisk deep tendon reflexes, speech impairment, swallowing difficulties and pulmonary hypertension. There is evidence the disease is caused by compound heterozygous mutation in the LIPT1 gene on chromosome 2q11.	Preferred (foundation metadata concept)
A very rare inborn error of mitochondrial fatty acid oxidation with characteristics of variable manifestations ranging from asymptomatic individuals to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy. In affected individuals manifestations include seizures, developmental delay (delayed sitting/walking and/or speech/social interaction), failure to grow with poor feeding and usually muscle weakness and hypotonia. Caused by mutations in the acyl-CoA dehydrogenase, C-2 to C-3 short chain ACADS gene (12q24.31) along with additional as yet unidentified precipitating factors. Inherited in an autosomal recessive manner.	Preferred (foundation metadata concept)
A very rare inherited form of thyroglossal duct cyst (TDC) characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck.	Preferred (foundation metadata concept)
A very rare lysosomal storage disease with characteristics of developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.	Preferred (foundation metadata concept)
A very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production.	Preferred (foundation metadata concept)
A very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood.	Preferred (foundation metadata concept)
A very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported.	Preferred (foundation metadata concept)
A very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with microcephaly, craniofacial dysmorphism, joint laxity and beaked nails.	Preferred (foundation metadata concept)
A very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested.	Preferred (foundation metadata concept)
A very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.	Preferred (foundation metadata concept)
A very rare non-dysraphic spinal cord lipoma which is located within the spinal cord. There is no defect in the overlying dura.	Preferred (foundation metadata concept)
A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes.	Preferred (foundation metadata concept)
A very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.	Preferred (foundation metadata concept)
A very rare pure form of spastic paraplegia with characteristics of onset in infancy of lower limb spasticity associated with gait disturbances, scissor gait, tiptoe walking, clonus and increased deep tendon reflexes. Mild upper limb involvement may occasionally also be associated.	Preferred (foundation metadata concept)
A very rare secondary neonatal autoimmune disease characterized by generalized weakness, severe hypotonia, absent or reduced deep tendon reflexes and highly elevated serum creatine kinase levels presenting in the neonatal period. Perifascicular atrophy in the presence of a diffuse perivascular inflammatory cell exudate is observed on muscle biopsy.	Preferred (foundation metadata concept)
A very rare secondary neonatal autoimmune disease characterized by onset of hemolytic anemia in the neonatal period associated with a positive direct antiglobulin test. Hepatosplenomegaly may be associated.	Preferred (foundation metadata concept)
A very rare secondary neonatal autoimmune disease with characteristics of neonatal-onset of erythematous skin lesions with a linear appearance that gradually become indurated and hyperpigmented and progressively present skin atrophy. Positive serum antibodies (in particular antinuclear antibodies and/or rheumatoid factor) may be associated.	Preferred (foundation metadata concept)
A very rare severe motor neuron disease with manifestation of progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. Caused by homozygous mutation in the gene encoding alsin ALS2 (2q33-q35).	Preferred (foundation metadata concept)
A very rare severe motor neuron disease with manifestation of progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the spatacsin gene (SPG11) on chromosome 15q21.	Preferred (foundation metadata concept)
A very rare subtype of Waardenburg syndrome (WS) with characteristics of limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. Caused by heterozygous or homozygous mutations in the PAX3 (2q36.1) gene.	Preferred (foundation metadata concept)
A very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.	Preferred (foundation metadata concept)
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects.	Preferred (foundation metadata concept)
A very rare syndrome characterized by progressive loss of bone, usually the carpal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.	Preferred (foundation metadata concept)
A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism.	Preferred (foundation metadata concept)
A very rare syndrome consisting of short stature, facial dysmorphism, hypospadias and mixed hearing loss. It has been reported in two brothers. Dysmorphic features include hypertelorism, upper lid coloboma, midface hypoplasia, saddle nose deformity with a midline nasal cleft, thick philtrum and everted lower lip. The two brothers had developmental delay.	Preferred (foundation metadata concept)
A very rare syndrome described in four siblings of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit.	Preferred (foundation metadata concept)
A very rare syndrome described in three siblings of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit.	Preferred (foundation metadata concept)
A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.	Preferred (foundation metadata concept)
A very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.	Preferred (foundation metadata concept)
A very rare syndromic genetic deafness with characteristics of mild to moderate conductive hearing loss, dysmorphic pinnae and lip pits or dimples. The pinnae are usually small, cup-shaped with helix folded forward, and hearing loss is associated with malformed ossicles and displacement of the external auditory canal.	Preferred (foundation metadata concept)
A very rare tumor of the intestine, originating from the epithelium of the anal canal (including the mucosal surface, anal glands, and lining of fistulous tracts), macroscopically appearing as a nodular, often ulcerated, invasive mass located in the anal canal. Patients often present with rectal bleeding, as well as difficulty and pain during defecation. Inguinal lymphadenopathy, if present, usually indicates metastatic spread.	Preferred (foundation metadata concept)
A very rare type of choroid plexus tumor that, contrary to papilloma of the choroid plexus, has an increased likelihood of progression to carcinoma and of recurrence. It displays brisk mitoses, nuclear pleomorphism, raised cellular density, obscurity of the papillary growth pattern, and cell necrosis.	Preferred (foundation metadata concept)
A very rare variant of diffuse large B-cell lymphoma (DLBCL) mainly affecting middle-aged immunocompetent men and characterized by 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 very rare, genetic, congenital limb malformation syndrome characterized by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be associated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma.	Preferred (foundation metadata concept)
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Preferred (foundation metadata concept)
A very rare, persistent and more severe form of potassium-aggravated myotonia (PAM).	Preferred (foundation metadata concept)
A very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.	Preferred (foundation metadata concept)
A vesicle filled with leukocytes	Preferred (foundation metadata concept)
A vessel that could be a lymphatic vessel, arteriole, capillary or venule.	Preferred (foundation metadata concept)
A visible intraoral photographic image taken of the reflection in a mirror and flipped vertically to provide a buccal view of the teeth.	Preferred (foundation metadata concept)
A visible intraoral photographic image taken of the reflection in a mirror, requiring no correction to obtain proper orientation.	Preferred (foundation metadata concept)
A visible photographic image taken of a reflection in a mirror and flipped horizontally to provide an occlusal view of the teeth.	Preferred (foundation metadata concept)
A visible photographic image taken of the reflection in a mirror and flipped vertically and horizontally to provide an occlusal view from the front of the patient.	Preferred (foundation metadata concept)
A visible photographic image taken of the reflection in a mirror flipped back and or rotated to appear as if it has been taken directly without a mirror used for intraoral photographs only. Does not apply to extraoral photographs.	Preferred (foundation metadata concept)
A visit to view new housing in order to ensure that the changing needs of occupants are met across their lifetime.	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)
A vitreoretinal dystrophy with characteristics of early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis). The onset is usually in childhood. Mutations in the NR2E3 gene (formerly called PNR) have been identified in some patients. NR2E3 (15q23) encodes a retinal nuclear receptor that is involved in the differentiation of photoreceptors. Inherited as an autosomal recessive trait and has a progressive course.	Preferred (foundation metadata concept)
A vulvovaginoplasty procedure described by Williams to create a vaginal canal	Preferred (foundation metadata concept)
A walking aid that consists of a frame with 3 or 4 wheels that allow the walker to move freely without lifting or tilting.	Preferred (foundation metadata concept)
A water well and related storage equipment that form the basis for a private residence water supply. It may supply more than one building but is not operated under direction of a municipality.	Preferred (foundation metadata concept)
A water well and related storage equipment that form the basis of municipal water supply system, from where many households are drawing their water.	Preferred (foundation metadata concept)
A way for prescriptions for medical practitioners to be ordered by phone call to pharmacy	Preferred (foundation metadata concept)
A way of thinking or feeling about food and/or nutrition behavior that impedes food and/or nutrition behavior change.	Preferred (foundation metadata concept)
A white mucosal lesion in the area of the mouth where there has been tobacco contact. The lesion develops as a result of habitual chewing of tobacco or use of snuff tobacco. The lesion is premalignant.	Preferred (foundation metadata concept)
A wide spectrum of malformations involving the distal anus and rectum along with urinary and genital tracts, which can affect male or female. Defects range from mild anal anomalies to complex cloacal malformations. They can therefore be classified into the following groups: imperforated anus without fistula, ARM with rectourinary or rectogenital fistula and complex ARM (cloaca). Associated anomalies include genitourinary defects in approximately 50% of patients and spinal anomalies. The etiology remains unclear and is likely multifactorial. Familial cases have been described.	Preferred (foundation metadata concept)
A worry, anxiety or suspicion that an adult may be at risk of abuse or neglect, or that the individual may already have been harmed by a caregiver, institution or someone else they have contact with.	Preferred (foundation metadata concept)
A worry, anxiety or suspicion, based on the carers behavior, that the carer may be at risk of abuse or neglect, or that the carer may already have been harmed by a person they have contact with.	Preferred (foundation metadata concept)
A xenograft is when the skin donor and graft recipient are of different species.	Preferred (foundation metadata concept)
A*0101	Preferred (foundation metadata concept)
A*0101 (substance)	Preferred (foundation metadata concept)
A*0201	Preferred (foundation metadata concept)
A*0201 (substance)	Preferred (foundation metadata concept)
A*0202	Preferred (foundation metadata concept)
A*0202 (substance)	Preferred (foundation metadata concept)
A*0203	Preferred (foundation metadata concept)
A*0203 (substance)	Preferred (foundation metadata concept)
A*0204	Preferred (foundation metadata concept)
A*0204 (substance)	Preferred (foundation metadata concept)
A*0205	Preferred (foundation metadata concept)
A*0205 (substance)	Preferred (foundation metadata concept)
A*0206	Preferred (foundation metadata concept)
A*0206 (substance)	Preferred (foundation metadata concept)
A*0207	Preferred (foundation metadata concept)
A*0207 (substance)	Preferred (foundation metadata concept)
A*0208	Preferred (foundation metadata concept)
A*0208 (substance)	Preferred (foundation metadata concept)
A*0209	Preferred (foundation metadata concept)
A*0209 (substance)	Preferred (foundation metadata concept)
A*0210	Preferred (foundation metadata concept)
A*0210 (substance)	Preferred (foundation metadata concept)
A*0211	Preferred (foundation metadata concept)
A*0211 (substance)	Preferred (foundation metadata concept)
A*0212	Preferred (foundation metadata concept)
A*0212 (substance)	Preferred (foundation metadata concept)
A*0301	Preferred (foundation metadata concept)
A*0301 (substance)	Preferred (foundation metadata concept)
A*0302	Preferred (foundation metadata concept)
A*0302 (substance)	Preferred (foundation metadata concept)
A*1101	Preferred (foundation metadata concept)
A*1101 (substance)	Preferred (foundation metadata concept)
A*1102	Preferred (foundation metadata concept)
A*1102 (substance)	Preferred (foundation metadata concept)

Start Previous Page 172 of 13176 Next End

Reference Sets

Reference set descriptor

GB English

US English

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)