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 faint	Acceptable (foundation metadata concept)
A familial condition where too much aldosterone is produced by the adrenal glands which can lead to lowered levels of potassium in the blood.	Preferred (foundation metadata concept)
A familial form of essential thrombocythaemia, a myeloproliferative disorder characterised by a sustained elevation of platelet number with a tendency for thrombosis and haemorrhage. Patients commonly manifest microcirculatory disturbances or vaso-motor events. The disease is less frequently associated with an increased risk of haemorrhage, mild splenomegaly, and progression towards myelofibrosis with myeloid metaplasia or transformation to leukaemia. The genetic cause of the inherited predisposition is not known. Transmission appears to be autosomal dominant with incomplete penetrance.	Preferred (foundation metadata concept)
A familial 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) can be seen. 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 can 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 fear of spiders that may cause feelings of unease or dislike but is mild and manageable and doesn't typically interfere with daily life. Unlike arachnophobia which is a severe and debilitating condition that significantly impacts a person's life.	Preferred (foundation metadata concept)
A fear that may be due to personal sensitivity, negative associations or social conditioning where people are taught from a young age to avoid unpleasant odours. It is not excessive and does not lead to significant anxiety and does not interfere with the individual's daily life and activities.	Preferred (foundation metadata concept)
A fear that may be due to social situations, inability to maintain personal hygiene or specific health conditions. It is not excessive or irrational.	Preferred (foundation metadata concept)
A fibroma of the gums with calcification and possibly ossification	Preferred (foundation metadata concept)
A financial audit to review and/or verify charges	Preferred (foundation metadata concept)
A financial procedure that assesses a financial situation	Preferred (foundation metadata concept)
A finding of decreased blood pressure; not necessarily a hypotensive disorder.	Preferred (foundation metadata concept)
A finding of increased blood pressure; not necessarily a hypertensive disorder.	Preferred (foundation metadata concept)
A finding of mandible bone height in edentulous patients by examination of the oral cavity in prosthodontics; part of prosthodontic classification in assessment for dentures/devices.	Preferred (foundation metadata concept)
A finished dosage form refers to the final form of a pharmaceutical product that has been fully manufactured, packaged into its final container, and labelled for distribution and use. A finished dose form is ready for administration to a person without the need for any further modification prior to administration with the exception of reconstitution.	Preferred (foundation metadata concept)
A firmly held false belief (delusion) that certain thoughts are being placed in one's mind by others.	Preferred (foundation metadata concept)
A firmly held false belief (delusion) that involves an external force or person controlling one's actions.	Preferred (foundation metadata concept)
A firmly held false belief (delusion) that involves an external force or person controlling one's feelings, impulses, thoughts, or behaviour.	Preferred (foundation metadata concept)
A firmly held false belief (delusion) that involves an external force or person controlling one's handwriting.	Preferred (foundation metadata concept)
A firmly held false belief (delusion) that involves an external force or person controlling one's thoughts.	Preferred (foundation metadata concept)
A firmly held false belief (delusion) that involves an external force or person controlling one's voice.	Preferred (foundation metadata concept)
A firmly held false belief (delusion) that one's thoughts are accessible by others so that others know what one is thinking.	Preferred (foundation metadata concept)
A firmly held false belief (delusion) that one's thoughts are being removed by an outside person or force.	Preferred (foundation metadata concept)
A first aid technique to unblock the airway in cases of choking. when abdominal thrusts would be dangerous (such as in infants) or impossible (such as in pregnant women). In a chest thrust, the first-aider places a fist in the other hand, and, pressing against the lower breastbone, thrusts the chest wall inwards up to five times. The pressure simulates the coughing reflex and may expel the obstruction.	Preferred (foundation metadata concept)
A first neurologic episode caused by inflammation/demyelination of one or more central nervous system sites that lasts at least 24 hours.	Preferred (foundation metadata concept)
A fistula route that begins within a mucous fistula.	Preferred (foundation metadata concept)
A fixation that is being revised	Preferred (foundation metadata concept)
A fixation that joins together two body parts, rendering them immobile with respect to each other	Preferred (foundation metadata concept)
A flat lesion, less than 2 cm in diameter, not raised above the surface of the surrounding skin	Preferred (foundation metadata concept)
A flat mandibular plane angle correlates with short anterior facial vertical dimensions (height) and anterior deep bite malocclusion.	Preferred (foundation metadata concept)
A fluid-filled, raised, often translucent lesion, greater than 1 cm in diameter	Preferred (foundation metadata concept)
A focal to bilateral tonic-clonic epileptic seizure of more than 5 minutes duration.	Preferred (foundation metadata concept)
A follicular lesion of the thyroid encompasses a wide range of diseases, and refers to the microscopic finding of follicular cells before a specific diagnosis.	Preferred (foundation metadata concept)
A force that approximates two structures.	Preferred (foundation metadata concept)
A form of Ehlers-Danlos syndrome (EDS) with characteristics of extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and sometimes major complications due to visceral and vascular fragility.	Preferred (foundation metadata concept)
A form of Ehlers-Danlos syndrome (EDS), with characteristic of spontaneous dissection of medium-sized arteries during young adulthood including mainly the iliac, femoral and renal arteries.	Preferred (foundation metadata concept)
A form of Ehlers-Danlos syndrome characterised by generalised joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, fragile and thin hand skin breaks or bruises easily), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.	Preferred (foundation metadata concept)
A form of acromelic dysplasia characterised by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.	Preferred (foundation metadata concept)
A form of adrenal Cushing syndrome, an endogenous Cushing syndrome (CS), characterised by chronic over-secretion of cortisol due to a benign adrenal tumour that arises from the adrenal cortex. Most adenomas arise in a sporadic setting, with somatic variants in PRKACA gene (around 40% of cases), or other genes such CTNNB1, GNAS, and PRKAR1A, PRKACB. Germline mutations are rare (MEN1).	Preferred (foundation metadata concept)
A form of amelogenesis imperfecta characterised by incomplete formation of the dental enamel and transmitted as an X-linked or autosomal dominant trait.	Preferred (foundation metadata concept)
A form of arthrogryposis characterised by contractures of the distal regions of the hands and feet in the absence of a primary neurological and/or muscle disease affecting limb function. Facial involvement is limited to a small mouth and impaired mouth opening. No additional anomalies are reported.	Preferred (foundation metadata concept)
A form of arthrogryposis multiplex congenita characterised by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.	Preferred (foundation metadata concept)
A form of athetoid cerebral palsy with bilateral involuntary movements.	Preferred (foundation metadata concept)
A form of autosomal dominant optic atrophy characterised by an early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. It is caused by mutations in the OPA3 gene (19q13.32).	Preferred (foundation metadata concept)
A form of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to UMOD mutations that is clinically characterised by bland urinalysis (absence of blood or protein in the urine), chronic kidney disease (CKD) leading to end-stage kidney disease (ESKD) between 20 and 80 years, and gout occurring in 50% of affected individuals.	Preferred (foundation metadata concept)
A form of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterised by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement, and myoglobinuria and/or elevated creatine kinase serum levels.	Preferred (foundation metadata concept)
A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy, characterised by congenital ptosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.	Preferred (foundation metadata concept)
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with onset associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. This disorder has a slowly progressive course.	Preferred (foundation metadata concept)
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterised by a late onset with severe sensory loss (paraesthesia and hypoaesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes.	Preferred (foundation metadata concept)
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterised by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.	Preferred (foundation metadata concept)
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterised by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.	Preferred (foundation metadata concept)
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterised by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. It presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.	Preferred (foundation metadata concept)
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterised by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.	Preferred (foundation metadata concept)
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, presenting with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor.	Preferred (foundation metadata concept)
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.	Preferred (foundation metadata concept)
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.	Preferred (foundation metadata concept)
A form of cerebral palsy where no predominant motion can be determined; when it is a mixed CP form, i.e. spasticity with ataxia and/or dyskinesia, the child should be classified according to the dominant clinical feature	Preferred (foundation metadata concept)
A form of chronic oral candidosis involving multiple oral sites with angular cheilitis, retrocommissural leukoplakia, median rhomboid glossitis and palatal lesions.	Preferred (foundation metadata concept)
A form of citrullinaemia type I characterised clinically by adult onset of symptoms including variable hyperammonaemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur.	Preferred (foundation metadata concept)
A form of congenital adrenal hyperplasia (CAH) characterised by simple virilising or salt wasting forms that can manifest with abnormal genital development with variable levels of virilisation in females and with adrenal insufficiency in both sexes, and that presents with dehydration and hypoglycaemia (which can be lethal if left untreated) in the neonatal period, as well as hyperandrogenism.	Preferred (foundation metadata concept)
A form of congenital diazoxide-sensitive diffuse hyperinsulinism due to ABCC8 variants and characterised by hypoglycaemic episodes that are usually mild, escaping detection during infancy, and usually have a good clinical response to diazoxide. The autosomal dominant hyperinsulinism usually has a milder phenotype when compared to that resulting from recessive potassium (K-ATP) channel mutations.	Preferred (foundation metadata concept)
A form of congenital disorders of N-linked glycosylation characterised by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behaviour), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age.	Preferred (foundation metadata concept)
A form of congenital disorders of N-linked glycosylation characterised by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3).	Preferred (foundation metadata concept)
A form of congenital disorders of N-linked glycosylation characterised by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A form of congenital disorders of N-linked glycosylation characterised by microcephaly, hepatomegaly, oedema of the extremities, intractable seizures, recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23).	Preferred (foundation metadata concept)
A form of congenital disorders of N-linked glycosylation characterised by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene ALG3 (3q27.3).	Preferred (foundation metadata concept)
A form of congenital muscular dystrophy characterised by a congenital to childhood onset of progressive proximal muscle weakness, joint contractures, and potential respiratory insufficiency in adulthood.	Preferred (foundation metadata concept)
A form of congenital muscular dystrophy characterised by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, attainment of independent ambulation which is subsequently lost and uniform respiratory insufficiency during the teenage years. Intermediate COL6-RD is caused by heterozygous or biallelic pathogenic variants (PVs) in the genes coding for the alpha chains of the extracellular matrix protein collagen VI (COL6A1, COL6A2, and COL6A3).	Preferred (foundation metadata concept)
A form of constitutional sideroblastic anaemia characterised by severe microcytic anaemia, B-cell lymphopenia, panhypogammaglobulinaemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness.	Preferred (foundation metadata concept)
A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.	Preferred (foundation metadata concept)
A form of cyanosis that occurs when there is a decrease in oxygen saturation in the arterial blood, usually with an SaO2 of below 75%.	Preferred (foundation metadata concept)
A form of diazoxide-sensitive diffuse congenital hyperinsulinism due to HNF4A deficiency and, characterised by macrosomia, transient or persistent hyperinsulinaemic hypoglycaemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY).	Preferred (foundation metadata concept)
A form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterised by hypoglycaemic episodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (recessive forms of diazoxide-resistant hyperinsulinism).	Preferred (foundation metadata concept)
A form of diffuse hyperinsulinism due to glucokinase hyperactivity and characterised by an excessive/uncontrolled insulin secretion (inappropriate for the level of glycaemia) and recurrent episodes of hypoglycaemia induced by fasting and glucose rich meals. The clinical spectrum can range from mild and intermediate cases that respond well to dietary modifications and medical management with diazoxide to severe cases that are unresponsive to diazoxide. The potential development of type 2 diabetes with age is another notable feature.	Preferred (foundation metadata concept)
A form of dyskinetic cerebral palsy with a combination of chorea and athetosis; movements are irregular, but twisting and curving.	Preferred (foundation metadata concept)
A form of dyskinetic cerebral palsy with involuntary movements accompanied by an abnormal, sustained posture.	Preferred (foundation metadata concept)
A form of dyskinetic cerebral palsy with irregular movements that are not repetitive or rhythmic, and tend to be more jerky and shaky.	Preferred (foundation metadata concept)
A form of dyskinetic cerebral palsy with slow, writhing movements that are often repetitive, sinuous, and rhythmic.	Preferred (foundation metadata concept)
A form of eccentric contraction designed to break adhesions using an operator-induced force to lengthen the muscle and in which, the counterforce is greater than the patient force.	Preferred (foundation metadata concept)
A form of ectodermal dysplasia syndrome characterised by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.	Preferred (foundation metadata concept)
A form of epidermolysis bullosa simplex (EBS) characterised by generalised blistering associated with muscular dystrophy.	Preferred (foundation metadata concept)
A form of focal dystonia characterised by cervical, laryngeal and hand-forearm dystonia.	Preferred (foundation metadata concept)
A form of functioning pancreatic neuroendocrine tumour characterised most commonly by a solitary, small pancreatic lesion that causes hyperinsulinaemic hypoglycaemia. Insulinoma can present at any age but the median age of diagnosis is in the fifth decade of life. Insulinoma is malignant in only 7-10% of cases and the most common sites of metastasis are the liver and lymph nodes. The aetiology is unknown in most sporadic cases but somatic YY1 (14q32.2) variants are associated with insulinoma in some cases. Insulinoma originates in the islet beta cells that are equally distributed throughout the pancreas. When functioning, the tumour manifests with hypersecretion of insulin and consequently causes hypoglycaemia. With the exception of insulinoma in MEN1, insulinoma is not hereditary.	Preferred (foundation metadata concept)
A form of generalised enchondromatosis with involvement of the spine (so called spondyloenchondromatosis). Spondyloenchondromatosis is a very rare skeletal dysplasia characterised by severe platyspondyly, and mild involvement of hands and feet. It is though to be inherited as an autosomal recessive condition. Dominant pattern of inheritance has been recently suggested.	Preferred (foundation metadata concept)
A form of hereditary nonpolyposis colon cancer characterised by concurrent presentation of a primary tumour of the central nervous system (principally glial tumours), relatively few colonic polyps, and adenomas or colorectal carcinoma.	Preferred (foundation metadata concept)
A form of hereditary spastic ataxia characterised by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity and sometimes predominant cerebellar ataxia. In addition to frequent sphincter dysfunction and decreased vibratory sense at the ankles, manifestations may include optical neuropathy, nystagmus, blepharoptosis, ophthalmoplegia, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, muscle atrophy, parkinsonism, and dystonia.	Preferred (foundation metadata concept)
A form of hypotonia-cystinuria type 1 syndrome characterised by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism).	Preferred (foundation metadata concept)
A form of junctional epidermolysis bullosa characterised by onset in childhood or young adulthood of blistering that first occurs around nails, accompanied by nail dystrophy and shedding, and then affects the hands and feet and, to a lesser extent, the elbows, and knees. Lesions heal with atrophic scarring. Other manifestations include disappearance of dermatoglyphs and palmoplantar hyperhidrosis. Extracutaneous involvement is restricted to soft tissue abnormalities of the oral cavity and enamel defects with development of caries.	Preferred (foundation metadata concept)
A form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterised clinically by corneal opacities, haemolytic anaemia and renal failure and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme. Age of onset and severity of clinical manifestations are variable. Caused by mutations in the LCAT gene (16q22.1) encoding the LCAT enzyme which catalyses the formation of cholesterol esters in lipoproteins, leading to progressive lipid deposition in body tissues. There is no clear genotype-phenotype correlation since family members with the same mutation have been found to have different clinical and biochemical pictures. Environmental factors or other minor genes may therefore also be involved in the disorder.	Preferred (foundation metadata concept)
A form of leucocyte adhesion deficiency characterised by both severe bacterial infections and a severe bleeding disorder. The disease is extremely rare. Caused by mutations in the FERMT3 gene (11q13.1), which encodes kindlin-3 in haematopoietic cells. The FERMT3 mutations lead to an activation defect of all beta-integrins. Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A form of limb-girdle muscular dystrophy characterised by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.	Preferred (foundation metadata concept)
A form of limb-girdle muscular dystrophy characterised by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.	Preferred (foundation metadata concept)
A form of limb-girdle muscular dystrophy characterised by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.	Preferred (foundation metadata concept)
A form of limb-girdle muscular dystrophy characterised by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.	Preferred (foundation metadata concept)
A form of limb-girdle muscular dystrophy characterised by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence (or mild intellectual disability).	Preferred (foundation metadata concept)
A form of limb-girdle muscular dystrophy characterised by slowly progressive, mainly proximal, muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.	Preferred (foundation metadata concept)
A form of limb-girdle muscular dystrophy characterised by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.	Preferred (foundation metadata concept)
A form of limb-girdle muscular dystrophy most often characterised by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common, as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. Calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.	Preferred (foundation metadata concept)
A form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.	Preferred (foundation metadata concept)
A form of limb-girdle muscular dystrophy with characteristics of adolescent or early adulthood-onset of progressive proximal muscle weakness and mild facial muscle weakness, with patients becoming wheelchair bound in their fourth to fifth decade of life. Mild, bilateral winged scapula, incomplete right bundle branch block and a sinus rhythm with very rare ventricular extrasystoles have also been reported. There is evidence this may be caused by homozygous mutation in the DES gene on chromosome 2q35.	Preferred (foundation metadata concept)
A form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterised by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.	Preferred (foundation metadata concept)
A form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterised by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.	Preferred (foundation metadata concept)

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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)