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 type of focal epilepsy where all the seizures originate within the mesiobasal limbic area of the temporal lobe.	Preferred (foundation metadata concept)
A type of focal epilepsy where all the seizures originate within the occipital lobe.	Preferred (foundation metadata concept)
A type of focal epilepsy where all the seizures originate within the opercular area of the frontal lobe.	Preferred (foundation metadata concept)
A type of focal epilepsy where all the seizures originate within the orbitofrontal area of the frontal lobe.	Preferred (foundation metadata concept)
A type of focal epilepsy where all the seizures originate within the parietal lobe.	Preferred (foundation metadata concept)
A type of focal epilepsy where all the seizures originate within the primary motor cortex area of the frontal lobe.	Preferred (foundation metadata concept)
A type of focal epilepsy where all the seizures originate within the supplementary motor cortex area of the frontal lobe.	Preferred (foundation metadata concept)
A type of focal epilepsy where all the seizures originate within the temporal lobe.	Preferred (foundation metadata concept)
A type of frontal lobe epilepsy that presents with clusters of motor seizures occurring from sleep, with usual onset in the first two decades of life, typically in adolescence (eleven to fourteen years). Focal motor seizures have hyperkinetic features or asymmetric tonic/dystonic features, usually with autonomic signs, vocalisation, and negative emotional expression such as fear. Seizures are brief, with abrupt onset/offset, and there is often preserved awareness during the seizure. Individuals may describe a focal aware sensory or cognitive seizure before the motor features commence. Focal to bilateral tonic-clonic seizures can occur. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram (EEG) background is typically normal. The awake EEG is non epileptiform in most patients. During sleep, interictal epileptiform abnormalities can be seen over the frontal areas. Neuroimaging is usually normal.	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 lateral auxiliary canal located at the pulp chamber floor or on the coronal aspect of a root canal of a molar or premolar tooth.	Preferred (foundation metadata concept)
A type of nemaline myopathy (NM) only observed in several families of the Amish community.	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 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 due to thyroid resistance to TSH.	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 primary hypophysitis characterised by an inflammation of the entire pituitary gland. Common clinical presentation is diabetes insipidus with polyuria and polydipsia and partial or panhypopituitarism. Other symptoms may include headaches, nausea/vomiting, visual disturbances and fatigue.	Preferred (foundation metadata concept)
A type of primary hypophysitis characterised by an inflammation of the posterior pituitary and the stalk. The major clinical manifestation is diabetes insipidus with polyuria and polydipsia. Less frequent symptoms are headaches, adrenal insufficiency, hyperprolactinaemia and hypogonadism.	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 resistance to parathyroid hormone (PTH), which manifests with hypocalcaemia, hyperphosphataemia 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 hypothesised 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 self-limited focal epilepsy with onset of focal seizures in infancy (peak age six months; range three to twenty months). Focal seizure semiology includes behavioural arrest, cyanosis, staring with impaired awareness, automatisms, head/eye version and clonic movements. Individual focal clonic seizures originating from either hemisphere may occur in the same child and can progress to become focal to bilateral tonic-clonic seizures. Seizures are usually brief (less than three minutes). Seizures are often frequent (five to ten per day over one to three days) and may be difficult to control at onset. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram (EEG) background activity is normal but can have focal background slowing postictally. The interictal EEG is normal but can have midline spikes during slow sleep. MRI is normal or has nonspecific findings. Pathogenic variants in the PRRT2 gene are most commonly identified. Pathogenic variants in SCN2A, KCNQ2, KCNQ3 and SCN8A genes are causative in some individuals.	Preferred (foundation metadata concept)
A type of self-limited focal epilepsy with onset typically between day two and seven of life. Seizures are focal tonic at onset, affecting the head, face, and limbs. Focal clonic or tonic seizures may evolve to bilateral tonic or clonic seizures. Onset may alternate between hemispheres. Autonomic features (apnoea and cyanosis) are present in one third of seizures and may be the predominant manifestation. Seizure semiology may progress in a sequential pattern with tonic, clonic, myoclonic and autonomic features following each other without a single predominant feature. Clusters of seizures may occur over hours or days with the neonate behaving normally between events. Developmental progress is usually normal. The electroencephalogram (EEG) background is normal or has minor nonspecific abnormalities. Focal interictal epileptiform abnormalities can be seen in the central, centrotemporal or frontotemporal regions. MRI is normal or has nonspecific findings. Pathogenic variants are seen in KCNQ2, KCNQ3 and SCN2A.	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 moulding 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 tumour) 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 temporal lobe epilepsy that presents typically between 10 and 30 years (range 0.5 to 54 years) with focal aware sensory auditory seizures and/or focal cognitive seizures with receptive aphasia. Auditory seizures typically consist of simple unformed sounds (e.g., humming, buzzing, or ringing), or less commonly auditory distortions (such as alteration in volume) or complex sounds (e.g., specific songs or voices). Cognitive seizures manifest as receptive aphasia, consisting of an inability to understand spoken language in the absence of an impairment of awareness. Focal impaired awareness and focal to bilateral tonic-clonic seizures may occur. Development and cognition are typically normal. Neurological examination is normal. The interictal EEG is normal but may have focal (usually temporal) sharp-and-wave or spikes, that can also be widespread. MRI is normal or shows focal cortical dysplasia.	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)
A uniparental disomy of paternal 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 father is a carrier and specific phenotype depends on the inherited disorder.	Preferred (foundation metadata concept)
A unit/mL	Preferred (foundation metadata concept)
A urethral route that begins through the urethra.	Preferred (foundation metadata concept)
A variant of lichen planopilaris characterised by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin.	Preferred (foundation metadata concept)
A variant of self-healing collodion baby (SHCB) characterised by the presence at birth of a collodion membrane only at the extremities.	Preferred (foundation metadata concept)
A variation of the pulp canal of a tooth, lateral canals are small branches of the main root canal in a tooth that can be difficult to treat.	Preferred (foundation metadata concept)
A vegetarian diet that excludes all animal-based foods and animal-based food and ingredients.	Preferred (foundation metadata concept)
A vegetarian diet that includes egg and excludes other animal-based food and ingredients.	Preferred (foundation metadata concept)
A vegetarian diet that includes fish and seafood, egg, and mammalian milk-based food and excludes all other animal-based protein food and ingredients.	Preferred (foundation metadata concept)
A vein located in the antecubital fossa	Preferred (foundation metadata concept)
A venous and lymphatic drainage technique applied through the lower extremities.	Preferred (foundation metadata concept)
A vertical line passing through the lateral malleolus, used as a point of reference in standing lateral x-rays and postural evaluation.	Preferred (foundation metadata concept)
A vertical line used as a reference in standing antero-posterior x-rays and postural evaluation, passing equidistant between the heels.	Preferred (foundation metadata concept)
A vertical misalignment in which one eye tends to move downward, only noticeable when binocular vision is disrupted, such as when one eye is covered. The misalignment varies depending on the direction of gaze.	Preferred (foundation metadata concept)
A vertical misalignment in which one eye tends to move upward, only noticeable when binocular vision is disrupted, such as when one eye is covered. The misalignment is the same in all directions of gaze.	Preferred (foundation metadata concept)
A vertical misalignment in which one eye tends to move upward, only noticeable when binocular vision is disrupted, such as when one eye is covered. The misalignment varies depending on the direction of gaze.	Preferred (foundation metadata concept)
A vertical misalignment where one eye tends to move downward, only noticeable when binocular vision is disrupted such as when one eye is covered.	Preferred (foundation metadata concept)
A vertical misalignment where one eye tends to move downward, only noticeable when binocular vision is disrupted such as when one eye is covered. The misalignment is the same in all directions of gaze.	Preferred (foundation metadata concept)
A vertical misalignment where one eye tends to move upward, only noticeable when binocular vision is disrupted such as when one eye is covered.	Preferred (foundation metadata concept)
A vertical plane at right angles to a sagittal plane, dividing the body into anterior and posterior portions, or any plane parallel to the central coronal plane.	Preferred (foundation metadata concept)
A very rare Epstein-Barr virus-associated lymphoproliferative disorder characterised by a chronic, recurrent, vesiculopapular rash, which subsequently ulcerates and scars, located mainly on sun-exposed areas and which is associated with systemic manifestations, such as fever, weight loss, asthenia, facial oedema, arthralgia, lymphadenopathy, hepatosplenomegaly and/or increased liver enzymes. Hypersensitivity to mosquito bites has been associated and an increased risk of developing systemic lymphoma has been reported.	Preferred (foundation metadata concept)
A very rare acrofacial dysostosis characterised by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.	Preferred (foundation metadata concept)
A very rare aggressive form of systemic mastocytosis characterised by abnormal growth and proliferation of neoplastic mast cells (>20%) in the bone marrow and/or blood, as well as other tissues such as the liver, peritoneum, spleen or bones. Patients typically present with symptoms related to mast cell activation (for example hot flushes, fever, malaise, diarrhoea, tachycardia), weight loss, anorexia and hepatosplenomegaly or less frequently cutaneous mastocytosis. Gastroduodenal ulcers (often complicated by haemorrhage), ascites and portal hypertension have also been reported.	Preferred (foundation metadata concept)
A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterised by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.	Preferred (foundation metadata concept)
A very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations including dyspnoea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties). When large, they can lead to airway obstruction, asphyxia and death in the neonatal period.	Preferred (foundation metadata concept)
A very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. More commonly seen in females, and presents with various manifestations (depending on the tumour size) including obstructive polyhydramnios in the prenatal period.	Preferred (foundation metadata concept)
A very rare and mild form of spondylocostal dysostosis characterised by vertebral and costal segmentation defects, often with a reduction in the number of ribs.	Preferred (foundation metadata concept)
A very rare and severe type of NAGA deficiency characterised by infantile neuroaxonal dystrophy.	Preferred (foundation metadata concept)
A very rare association of a Poland anomaly with characteristics of unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles.	Preferred (foundation metadata concept)
A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterised by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome.	Preferred (foundation metadata concept)
A very rare bone disease reported in two siblings with characteristics of bowed tibia, hypoplastic thumbs, multiple fractures, distinctive facial features and developmental delay. There have been no further descriptions in the literature since 1993.	Preferred (foundation metadata concept)
A very rare chromosomal disorder of unknown prevalence characterised by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal.	Preferred (foundation metadata concept)
A very rare congenital cranial dysinnervation disorder characterised by unilateral or bilateral non progressive congenital facial palsy (VII cranial nerve) with impairments of ocular abduction (VI cranial nerve). It can also be associated with other cranial nerves palsies, orofacial anomalies and limb defects.	Preferred (foundation metadata concept)
A very rare congenital genetic neurological disorder characterised by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Preferred (foundation metadata concept)
A very rare congenital limb malformation syndrome characterised by absence deformity of one leg, progressive scoliosis, short stature, and congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been reported. There have been no further descriptions in the literature since 1968.	Preferred (foundation metadata concept)
A very rare congenital malformation of the digits with the absence of the middle phalanges (usually of digits two to five), nail dysplasia and duplicated terminal phalanx of the thumb. Has been described in patients from two unrelated families.	Preferred (foundation metadata concept)
A very rare disorder associating pseudopapilloedema (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 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 characterised 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 characterised 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 characterised by severe malabsorptive diarrhoea (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 diarrhoea, as it is not reduced with pancreatic enzyme supplementation. Central hypogonadism (developing in the second decade), as well as an association with coeliac 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 inherited form of thyroglossal duct cyst (TDC) characterised 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 characterised 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 generalised 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 characterised 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 characterised 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 characterised 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 characterised 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 anaemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anaemia with liver iron overload and type 2 diabetes.	Preferred (foundation metadata concept)
A very rare primary immunodeficiency disorder characterised 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 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) characterised by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.	Preferred (foundation metadata concept)
A very rare syndrome characterised by intellectual deficit, horseshoe kidney, and congenital heart defects.	Preferred (foundation metadata concept)
A very rare syndrome characterised 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 characterised 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 characterised 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 characterised 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 characterised 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 tumour 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 defaecation. Inguinal lymphadenopathy, if present, usually indicates metastatic spread.	Preferred (foundation metadata concept)
A very rare type of choroid plexus tumour 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)

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Reference Sets

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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)