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
>97	Preferred (foundation metadata concept)
>97 (qualifier value)	Preferred (foundation metadata concept)
>=	Preferred (foundation metadata concept)
? child now: [EC69] or [EC60] from FPC] or [EC69 from HB]	Preferred (foundation metadata concept)
? child now: [EC69] or [EC60] from FPC] or [EC69 from HB]	Preferred (foundation metadata concept)
? child now: [EC69] or [EC60] from FPC] or [EC69 from HB] (finding)	Preferred (foundation metadata concept)
? child now: [EC69] or [EC60] from FPC] or [EC69 from HB] (finding)	Preferred (foundation metadata concept)
? patient now: [FP69 from FPC] or [GP69 from HB]	Preferred (foundation metadata concept)
? patient now: [FP69 from FPC] or [GP69 from HB]	Preferred (foundation metadata concept)
? patient now: [FP69 from FPC] or [GP69 from HB] (finding)	Preferred (foundation metadata concept)
? patient now: [FP69 from FPC] or [GP69 from HB] (finding)	Preferred (foundation metadata concept)
A	Preferred (foundation metadata concept)
A	Preferred (foundation metadata concept)
A & E - Accident and Emergency Department	Acceptable (foundation metadata concept)
A & E service	Acceptable (foundation metadata concept)
A (tumor staging)	Preferred (foundation metadata concept)
A - alphalipoproteinemia neuropathy	Acceptable (foundation metadata concept)
A - ampere	Preferred (foundation metadata concept)
A 102	Preferred (foundation metadata concept)
A 102 (qualifier value)	Preferred (foundation metadata concept)
A Noonan-related syndrome with characteristics of facial anomalies suggestive of Noonan syndrome, a distinctive hair anomaly described as loose anagen hair syndrome, frequent congenital heart defects, distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichthyosis and short stature, often associated with a growth hormone deficiency and psychomotor delay. There is evidence that this syndrome is caused by heterozygous mutation in the SHOC2 gene on chromosome 10q25.	Preferred (foundation metadata concept)
A Wernicke-like encephalopathy with characteristics of seizures responsive to high doses of thiamine. Two cases have been described so far. Clinical features include epilepsy, nystagmus, ophthalmoplegia and ataxia. The disease results from mutations in the SLC19A3 gene, encoding a thiamine transporter. Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A Z-shaped cut in the first metatarsal in order to separate the head of the plantar half of the shaft from the rest of the bone. This allows the head-shaft complex to be translated and rotated in order to achieve correction of the deformity while maintaining articular congruity.	Preferred (foundation metadata concept)
A acquired demyelinating neuropathy disease with characteristics of acute symmetric monophasic sensory neuropathy without motor involvement, typically manifesting with numbness in the distal lower limbs which progressively extends to all the limb, tingling sensation in the distal lower limbs, generalized areflexia and unsteady gait as well as clumsiness of the upper limbs, pseudoathetosis and loss of vibration sense.	Preferred (foundation metadata concept)
A alphanumeric labels	Preferred (foundation metadata concept)
A alphanumeric labels (qualifier value)	Preferred (foundation metadata concept)
A antigen	Acceptable (foundation metadata concept)
A band	Preferred (foundation metadata concept)
A band (cell structure)	Preferred (foundation metadata concept)
A basal ganglia disorder with manifestation of parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.	Preferred (foundation metadata concept)
A basal subtype of epidermolysis bullosa simplex characterized by generalized blistering associated with muscular dystrophy. Onset of blistering is usually as early as birth, muscular dystrophy manifests between infancy and adulthood. Blisters are often hemorrhagic and heal with mild atrophic scarring and rare milia formation. Associated findings comprise markedly dystrophic nails, and focal keratoderma of the palms and soles. Extracutaneous involvement is usually present. Caused by mutations in the PLEC gene (8q24) encoding plectin. Plectin deficiency can be demonstrated in skin and muscle by analysis with specific antibodies. Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A basal subtype of epidermolysis bullosa simplex characterized by generalized or, less frequently, localized acral blistering. 19 cases have been reported to date. Onset of the disease is usually at birth. Milia are rare but atrophic scarring and dystrophic nails usually occur, along with focal keratoderma (palms and soles) and rarely ichthyotic plaques. Extracutaneous involvement is common, including anemia, growth retardation, oral cavity abnormalities (blisters and erosions, and caries) and constipation. Due to mutations in the KRT14 gene (17q12-q21), encoding keratin 14. Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A basal subtype of epidermolysis bullosa simplex characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia. Prevalence is unknown, but at least 12 families have been reported to date. Onset is at birth and babies are usually born prematurely with a low weight and poor general condition. Most cases are due to mutations in the PLEC gene (8q24) encoding the plectin 1 protein. Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A basal subtype of epidermolysis bullosa simplex with manifestation of belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. Prevalence is unknown but 2 families have been reported to date. Onset of the disease is usually at birth. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. The disease is due to a specific mutation in the KRT5 (12q13.13) gene, encoding keratin 5. Transmission is autosomal dominant.	Preferred (foundation metadata concept)
A benign autosomal dominant form of slowly progressive muscular dystrophy. To date, fewer than 100 cases have been reported in the literature, thus illustrating its rarity. The clinical features do not differ markedly from those of other mild forms of progressive muscular dystrophy with the exception of finger contractures that are sometimes suggestive of the diagnosis. Creatine kinase levels and histological findings are not conclusive. Mutations in one of the three subunits of collagen VI are responsible for the disease. Molecular studies are however hampered by the size and expression pattern of the genes. Treatment remains purely supportive.	Preferred (foundation metadata concept)
A benign epithelial ovarian tumor characterized by a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation.	Preferred (foundation metadata concept)
A benign form of holoprosencephaly with characteristics of midline defects without the typical holoprosencephaly defect in brain cleavage and which can variably manifest with microcephaly, hypotelorism, midline cleft lip and/or flat nose, choanal stenosis, pyriform sinus stenosis, coloboma as well as a single median maxillary incisor.	Preferred (foundation metadata concept)
A benign genetic condition with characteristic of persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy.	Preferred (foundation metadata concept)
A benign natural killer (NK) cell lymphoproliferative disease with characteristics of minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma.	Preferred (foundation metadata concept)
A benign or malignant neoplasm arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic. Primary cardiac neoplasms are rare in children. The vast majority of primary cardiac neoplasms in children are benign, whilst approximately 10% are malignant. In contrast, the majority of secondary neoplasms are malignant.	Preferred (foundation metadata concept)
A benign pituitary gland neoplasm occurring separately from and without involvement of the sella turcica.	Preferred (foundation metadata concept)
A benign proliferation of pigment cells of the oral mucosa producing brown or bluish dome-shaped or sessile mass, usually with a smooth surface.	Preferred (foundation metadata concept)
A benign tumor invasive into adjacent structures.	Preferred (foundation metadata concept)
A benign vasoproliferative lesion in which lymph node sinuses become converted to anastomosing endothelial-lined channels.	Preferred (foundation metadata concept)
A biofield therapy that relies upon a belief in an invisible energy that may be transmitted from healer to patient through intention.	Preferred (foundation metadata concept)
A bleeding disorder associated with a decreased ability to form blood clots resulting in increased risk of epistaxis, heavy or prolonged bleeding following minor injury or surgery, ecchymosis and menorrhagia. The disease can be caused by mutations in the GP6 gene, leading to the production of no glycoprotein VI (GPVI) protein, an abnormally short, nonfunctional GPVI protein; or a protein that is less able to bind to collagen. Without GPVI binding to collagen, platelets cannot come together efficiently to form a clot. The disease may also be acquired rather than inherited and such cases are associated with autoimmune disorders such as systemic lupus erythematosus (SLE).	Preferred (foundation metadata concept)
A bleeding disorder with characteristics of mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. This disease is due to hyperresponsive platelets, resulting in thrombocytopenia.	Preferred (foundation metadata concept)
A blood group typing	Acceptable (foundation metadata concept)
A blood pressure observable where placement of several pneumatic cuffs on the limbs determine the pressure at multiple locations in efforts to localize arterial occlusions	Preferred (foundation metadata concept)
A blood pressure that refers to the average over a cardiac cycle	Preferred (foundation metadata concept)
A blood pressure which is observed by a non-invasive procedure, one that does not involve entry into a patient such using as a pressure cuff	Preferred (foundation metadata concept)
A blood pressure which is observed by an invasive procedure, one that involves entry into a patient such as inserting a cannula needle in an artery	Preferred (foundation metadata concept)
A body cavity route that begins within the bladder cavity.	Preferred (foundation metadata concept)
A body cavity route that begins within the peritoneal cavity and that has the propensity for absorption via the peritoneal membrane.	Preferred (foundation metadata concept)
A body cavity route that begins within the uterine cavity.	Preferred (foundation metadata concept)
A bone dysplasia with manifestation of bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones. Autosomal dominant mode of transmission.	Preferred (foundation metadata concept)
A brain malformation due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical periventricular nodular heterotopia is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.	Preferred (foundation metadata concept)
A branchial arch syndrome with characteristics of supernumerary nipples, preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids.	Preferred (foundation metadata concept)
A broad spectrum of other macroreentrant tachycardias in which the wave front does not travel around the tricuspid annulus. Atypical atrial flutter originates from the left atrium or areas in the right atrium (such as surgical scars) and has a variable appearance on ECG in regards to the flutter waves.	Preferred (foundation metadata concept)
A bungee cord is a long nylon-cased rubber band with hooks at each end that is used for securing luggage and other items.	Preferred (foundation metadata concept)
A calculation using actual body weight divided by usual body weight and expressed as a percentage.	Preferred (foundation metadata concept)
A calorie-controlled, prepackaged product in the form of a bar or beverage that replaces a regular meal.	Preferred (foundation metadata concept)
A canal that runs from optic disc to lens that contains the hyaloid artery in the fetus	Preferred (foundation metadata concept)
A cancer that has spread to nearby tissues or lymph nodes.	Preferred (foundation metadata concept)
A card carried in order to alert others in an emergency situation that the card holder has diabetes.	Preferred (foundation metadata concept)
A care management intervention that is implemented when a patient is discharged to home with a device.	Preferred (foundation metadata concept)
A cataract involving the nucleus of the lens	Preferred (foundation metadata concept)
A cauterization done with thermal energy.	Preferred (foundation metadata concept)
A cauterization done with thermal energy.	Preferred (foundation metadata concept)
A central nervous system malformation syndrome with characteristics of holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).	Preferred (foundation metadata concept)
A central nervous system malformation with characteristics of severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead) and brain imaging abnormalities.	Preferred (foundation metadata concept)
A cephalometric plane between soft tissue components of the head.	Preferred (foundation metadata concept)
A cerebral cortical malformation with features of unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria.	Preferred (foundation metadata concept)
A cerebral malformation with characteristics of symmetric, bilateral pachygyria with normal head circumference and without polymicrogyria. Clinical manifestations include developmental delay, moderate intellectual disability, normal or slightly decreased muscle tone and deep-tendon reflexes, telecanthus or hypertelorism.	Preferred (foundation metadata concept)
A cerebral malformation with epilepsy with predominant characteristics of posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia. Caused by heterozygous mutation in the PAFAH1B1 gene on chromosome 17p13.	Preferred (foundation metadata concept)
A cessation of respiratory airflow that may affect infants of 1 to 23 months old, caused by neurological impairment of the respiratory rhythm or obstruction of airflow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea.	Preferred (foundation metadata concept)
A change in the process of overseeing the medications prescribed for a patient to ensure they are taken properly and achieving their planned, therapeutic outcome.	Preferred (foundation metadata concept)
A characteristic ruxolitinib discontinuation syndrome includes an acute relapse of disease symptoms, splenomegaly, and occasional hemodynamic decompensation. Symptoms can appear from less than 24 hours to up to 3 weeks after the abrupt discontinuation of ruxolitinib.	Preferred (foundation metadata concept)
A characteristic selective serotonin reuptake inhibitor (SSRI) discontinuation syndrome is usually mild, commences within 1 week of stopping treatment, resolves spontaneously within 3 weeks, and consists of diverse physical and psychological symptoms, the commonest being dizziness, nausea, lethargy and headache. SSRI reinstatement leads to resolution within 48 hours.	Preferred (foundation metadata concept)
A chart evaluation performed by a physician	Preferred (foundation metadata concept)
A chart related administrative procedure done by the medical records department	Preferred (foundation metadata concept)
A chart related administrative procedure that involves abstracting information from the chart	Preferred (foundation metadata concept)
A chart-related administrative procedure that checks a chart for completion and accuracy and conformance to chart policy.	Preferred (foundation metadata concept)
A chart-related administrative procedure that involves opening the chart	Preferred (foundation metadata concept)
A chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-esophageal and urogenital anomalies.	Preferred (foundation metadata concept)
A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and friendly/amiable behavior. Abnormal hair pigmentation and texture is also frequent. Short stature, pectus excavatum, spine anomalies, dislocation of the hip, long slender fingers and slender lower limbs, and positional deformities of the hands/feet have also been reported. In all patients, global psychomotor developmental delay is noted from an early age. The recurrent 17q21.31 deletion encompasses at least six genes: C17orf69, CRHR1, IMP5, MAPT, STH and KIAA1267.	Preferred (foundation metadata concept)
A chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 with clinical characteristics of a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.	Preferred (foundation metadata concept)
A chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 resulting in characteristics of facial dysmorphism, pre and postnatal growth retardation, cardiac and genital anomalies and developmental delay. Prevalence is unknown but around 40 cases have been described in the literature so far. Genital abnormalities have been mostly reported in males, psychomotor retardation (generally described as mild) was present in all reported cases. Distal monosomy 10q results from a subterminal 10q deletion with breakpoints in the 10q25 or 10q26 band leading to partial monosomy for the genes located in this area. Most of the reported cases involved de novo terminal deletions resulting from abnormal non-allelic homolog recombination during meiosis.	Preferred (foundation metadata concept)
A chromosomal anomaly of chromosome 13 with characteristics of a widely variable phenotype ranging from mild to severe. Principle manifestations include intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. up-slanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies and genital abnormalities.	Preferred (foundation metadata concept)
A chromosomal anomaly that causes a congenital malformation disorder with common features that includes cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. The disease has a variable clinical phenotype that ranges from mild to severe. The broad spectrum of clinical phenotypes that the syndrome encompasses was previously divided into distinct syndromes (for example DiGeorge syndrome, velocardiofacial syndrome, cardiofacial syndrome) but are now known to be identical and are referred to as 22q11.2 deletion sydrome. In most cases, the syndrome is due to a 3 million base pair (Mb) deletion on the chromosomal region 22q11.2 that is flanked by low copy number repeats. The deletion is due to a non-allelic meiotic recombination during spermatogenesis or oogenesis. The variable expression of the 22q11.2 phenotype is thought to be due to genetic modifiers on either the other 22q11.2 allele or on other chromosomes. The deletion arises de novo in 90% of the cases.	Preferred (foundation metadata concept)
A chromosomal anomaly with characteristics of developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity. The proximal 16p11.2 microdeletion syndrome most commonly refers to a distinct deletion of approximately 593 kb at chromosomal coordinates 29.5-30.1 Mb comprising 24 genes. The relationship between genotype and clinical phenotype remains elusive.	Preferred (foundation metadata concept)
A chromosomal anomaly with characteristics of severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.	Preferred (foundation metadata concept)
A chromosomal condition occurring when a piece of the long (q) arm of chromosome 18 is missing near the center of the chromosome. The disease has a wide range of characteristics including developmental delay, intellectual disability, delayed expressive language skills, recurrent seizures and hypotonia. Macrocephaly may also be associated along with characteristic facial features including prominent forehead, ptosis, downslanting palpebral fissures, puffy periorbital tissue, and full cheeks. Most cases of proximal 18q deletion syndrome are the result of a new (de novo) deletion and are not inherited from a parent.	Preferred (foundation metadata concept)
A chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior. Facial dysmorphism is absent or subtle and major malformations are rare. The syndrome is usually sporadic and not inherited and results from an abnormal extra chromosome in each cell containing mirror-image segments of genetic material. The isodicentric chromosome is made up of two extra copies of a segment of genetic material from chromosome 15, which is attached end-to-end. Typically this copied genetic material includes a region of the chromosome called 15q11-q13.	Preferred (foundation metadata concept)
A chromosome microdeletion syndrome with characteristics of neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.	Preferred (foundation metadata concept)
A chronic autoinflammatory disease in which innate immune response is activated abnormally causing fever and inflammation-related damage to tissues and organs. The episodes can last for several days and occur weeks to months apart, manifestations include erythematous plaques on the skin, abdominal pain, dry eyes, dry mouth, mouth sores, chest pain and gland enlargement. This condition likely results from a combination of genetic and environmental factors. Variations in the NOD2 gene increase risk and it is suspected that environmental factors such as infections may also play a role in triggering the disease in people with genetic variants that increase their risk. The syndrome appears to be a complex disease without a single genetic cause.	Preferred (foundation metadata concept)
A chronic multisystem granulomatous inflammatory disease with manifestation of single or multiple soft plaques on various organs of the body. Can occur in all ages, with a mean age at diagnosis of 50 years old and a female predominance. Cases in children are rare. It is most common in immunodeficient patients with a history of diabetes, transplantation, lymphoma, steroid therapy or alcoholism. Seems to be due to an impaired response to bacterial infection.	Preferred (foundation metadata concept)
A chronic neurodegenerative disorder with features of spastic paraparesis (beginning at about 10 years of age) and hearing deficits. It has been described in affecting at least six male members spanning three generations of a large family. Some relatives presented with tremor, cataracts, sensory deficits, short stature, hypogonadism, elevated cerebrospinal fluid protein, and/or absent or prolonged somatosensory evoked potentials.	Preferred (foundation metadata concept)
A chronic neuropathic pain syndrome of the abdominal wall caused by entrapment of anterior cutaneous branches of 7 to 12th intercostal nerves along the lateral border of the anterior rectus abdominis fascia.	Preferred (foundation metadata concept)
A chronic type of intestinal failure with characteristics of a nonfunctioning small bowel that may be reversible or irreversible. The body is unable to maintain energy and nutritional needs through absorption of food or nutrients via the intestinal tract despite being metabolically stable. This necessitates long-term parenteral feeding.	Preferred (foundation metadata concept)
A classical radical neck dissection (RND) involves excision of fibrofatty tissue and removal of lymph nodes from the mandible superiorly to the clavicle inferiorly (level I to level V), and in the unmodified procedure encompasses the sternocleidomastoid muscle, spinal accessory nerve and the internal jugular vein and may include additional structures such as the submandibular gland.	Preferred (foundation metadata concept)

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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)