900000000000508004: Great Britain 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)\GB 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
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 very rare type of acrofacialdysostosis with characteristics of mild intrauterine growth retardation, postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males.	Preferred (foundation metadata concept)
A very rare type of choroid plexus tumour that in contrast to papilloma of the choroid plexus has an increased likelihood of progression to carcinoma and of recurrence. The disease displays brisk mitoses, nuclear pleomorphism, raised cellular density, obscurity of the papillary growth pattern and cell necrosis.	Preferred (foundation metadata concept)
A very rare type of heart-hand syndrome described in three members of a Spanish family to date. The syndrome has characteristics of cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.	Preferred (foundation metadata concept)
A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date with clinical characteristics of dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.	Preferred (foundation metadata concept)
A very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which has characteristic of a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death.	Preferred (foundation metadata concept)
A very rare variant of acrofacial dysostosis with characteristics of mandibulofacial dysostosis and limb anomalies. It has been described in less than ten patients. The mandibulofacial dysostosis consists of retrognathism, complete or occult posterior cleft palate and anomalies of the external ears. Limb anomalies consist of split-foot deformity with syndactyly of some toes. The condition is transmitted as an autosomal dominant trait with variable penetrance and expressivity.	Preferred (foundation metadata concept)
A very rare variant of diffuse large B-cell lymphoma mainly affecting middle-aged immunocompetent men with features of a consistent primary involvement of lymph nodes (mainly in the cervical and mediastinum lymph nodes) and with infrequent extra nodal involvement of the bone marrow and other extra-nodal sites (head and neck region, liver, spleen, and gastrointestinal tract). It has an aggressive disease course, and is associated with a poor prognosis.	Preferred (foundation metadata concept)
A very rare, complex form of hereditary spastic paraplegia characterised by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leucodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. Caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein.	Preferred (foundation metadata concept)
A very rare, generally severe form of neonatal diabetes mellitus with characteristics of a triad of developmental delay, epilepsy, and neonatal diabetes. Fewer than 40 cases have been reported to date. DEND syndrome represents the most severe end of the neonatal diabetes mellitus spectrum. The associated neurologic features range from mild psychomotor retardation to severe developmental delay. Patients also have therapy-resistant epilepsy and muscle hypotonia. Caused in most cases by gain of channel function mutations in the KCNJ11 gene (11p15.1), encoding a subunit of the ATP-sensitive potassium (KATP) channel. Rare reports of specific mutations in the ABCC8 gene (11p15.1) have also been associated with DEND. The pattern of inheritance of DEND syndrome is either de novo mutation, dominant, or very rarely recessive.	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. Begins during childhood (usually before 10 years of age) and involves mainly the face, neck, limbs, and thoracic muscles. It can be aggravated by exercise or potassium ingestion and less often by cold. Myotonia permanens is a muscle sodium channelopathy due to missense mutations of the SCN4A gene encoding the alpha subunit of the skeletal muscle voltage-gated sodium channel Nav1.4. Transmission is autosomal dominant.	Preferred (foundation metadata concept)
A very rare, poorly differentiated neuroendocrine epithelial bladder tumour characterised clinically by haematuria and/or dysuria and a highly aggressive course. Urinary obstruction, abdominal pain, urinary tract infection and weight loss are occasionally present. Histology and immunohistochemistry show a tumour that is indistinguishable from small cell lung cancer.	Preferred (foundation metadata concept)
A very rare, primary genetic immunodeficiency disorder with characteristic of partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections.	Preferred (foundation metadata concept)
A very rare, severe, genetic, combined immunodeficiency disorder with characteristics of 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 includes lymphatic vessels, arterioles, capillaries and venules.	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 vulvovaginoplasty procedure described by Williams to create a vaginal canal	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 well-defined and clinically recognisable syndrome characterised by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. It has been reported in 20 patients. Dysmorphic features include microcephaly, downslanting palpebral fissures, flat and long philtrum, micrognathia and low-set and dysplastic ears. The spectrum of limb defects ranges from monodactylous ectrodactyly, brachydactyly and syndactyly to camptodactyly. The lower limbs tend to be more often and more severely affected than the upper limbs.	Preferred (foundation metadata concept)
A well-defined entity within the group of auto inflammatory disorders, it is a rare disease with 49 cases documented so far. It affects mainly young adults and is characterised by recurrent attacks of fever and deep abscess-like collections, most frequently localised in the abdomen. Aseptic abscesses may be either isolated or associated with an underlying condition such as relapsing polychondritis or inflammatory bowel disease. Antibiotics fail to cure the patients but dramatic improvements are seen with corticosteroids and immunosuppressive drugs.	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 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)
A*2301	Preferred (foundation metadata concept)
A*2301 (substance)	Preferred (foundation metadata concept)
A*2401	Preferred (foundation metadata concept)
A*2401 (substance)	Preferred (foundation metadata concept)
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A*2501 (substance)	Preferred (foundation metadata concept)
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A*2601 (substance)	Preferred (foundation metadata concept)
A*2901	Preferred (foundation metadata concept)
A*2901 (substance)	Preferred (foundation metadata concept)
A*2902	Preferred (foundation metadata concept)
A*2902 (substance)	Preferred (foundation metadata concept)
A*3001	Preferred (foundation metadata concept)
A*3001 (substance)	Preferred (foundation metadata concept)
A*3002	Preferred (foundation metadata concept)
A*3002 (substance)	Preferred (foundation metadata concept)
A*31011	Preferred (foundation metadata concept)
A*31011 (substance)	Preferred (foundation metadata concept)
A*31012	Preferred (foundation metadata concept)
A*31012 (substance)	Preferred (foundation metadata concept)
A*3201	Preferred (foundation metadata concept)
A*3201 (substance)	Preferred (foundation metadata concept)
A*3301	Preferred (foundation metadata concept)
A*3301 (substance)	Preferred (foundation metadata concept)
A*3401	Preferred (foundation metadata concept)
A*3401 (substance)	Preferred (foundation metadata concept)
A*3402	Preferred (foundation metadata concept)
A*3402 (substance)	Preferred (foundation metadata concept)
A*3601	Preferred (foundation metadata concept)
A*3601 (substance)	Preferred (foundation metadata concept)
A*4301	Preferred (foundation metadata concept)
A*4301 (substance)	Preferred (foundation metadata concept)
A*6601	Preferred (foundation metadata concept)
A*6601 (substance)	Preferred (foundation metadata concept)
A*6602	Preferred (foundation metadata concept)
A*6602 (substance)	Preferred (foundation metadata concept)

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Reference Sets

Reference set descriptor

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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)