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900000000000508004: Great Britain English language reference set (foundation metadata concept)

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:

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)

1233160 members. Search Members:

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 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, generalised 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 characterised by generalised blistering associated with muscular dystrophy. Onset of blistering is usually as early as birth, muscular dystrophy manifests between infancy and adulthood. Blisters are often haemorrhagic 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 characterised by generalised or, less frequently, localised 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 anaemia, 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 characterised by generalised 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 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 tumour 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 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 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 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 cauterisation 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 apnoea. 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 characterised by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophageal and urogenital anomalies. Preferred (foundation metadata concept)
A chromosomal anomaly characterised by developmental delay, childhood hypotonia, facial dysmorphism, and friendly/amiable behaviour. 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 centre 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 characterised by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behaviour. 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)
A client assessment of their congruence to agreed upon nutrition related self monitoring. Preferred (foundation metadata concept)
A client assessment of their congruence with agreed upon nutrition related self management. Preferred (foundation metadata concept)
A clinical disease characterised by elevated serum IgG4 concentration and tumefaction or tissue infiltration by IgG4-positive plasma cells. Preferred (foundation metadata concept)
A clinical entity that can present as variable anomalies of the caudal pole. It has been described in four siblings and their father's half-sister. The first sibling had aberrant umbilical cord vasculature with a single umbilical artery near the placental insertion. Two of the siblings showed full sirenomelia, one with a complex congenital heart defect. The fourth case had an imperforate anus and an excessively long umbilical cord. The half-sister had an imperforate anus, rectovaginal fistula and genitourinary anomalies. The syndrome appears to be expressed as a dominant trait with reduced penetrance and variable expressivity. Preferred (foundation metadata concept)
A clinically oriented interview of a patient or someone familiar with the patient Preferred (foundation metadata concept)
A close up view of the teeth from the front of the patient with no set magnification or distance from the patient. Preferred (foundation metadata concept)
A closed ipsilateral double vertical fracture of the superior pubic ramus and the ischiopubic ramus with fracture or dislocation of the sacroiliac joint. Preferred (foundation metadata concept)
A closure done by stapling Preferred (foundation metadata concept)
A cognitive behaviour therapy approach involving a team of professionals all of the same discipline. Preferred (foundation metadata concept)
A collaborative nutrition counselling activity between the client and the practitioner in which the client decides from all potential activity recommendations what changes he or she will expend effort to implement. Preferred (foundation metadata concept)
A collection of extravascular blood in the intracranial subdural space Preferred (foundation metadata concept)
A colorless gas with a characteristic foul odor, used as a fuel and shipped as a liquefied compressed gas Preferred (foundation metadata concept)
A common taste disorder where there is a lingering, often unpleasant taste despite the absence of any stimulus to initiate the distorted taste. Preferred (foundation metadata concept)
A complex composed of aspartate aminotransferase and immunoglobulin. Preferred (foundation metadata concept)
A complex form of hereditary spastic paraplegia characterised by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraoesophageal hernia. The phenotype has been mapped to a locus on chromosome 1p31.1-p21.1. Preferred (foundation metadata concept)
A complex form of hereditary spastic paraplegia with characteristics of a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding. Preferred (foundation metadata concept)
A complex form of hereditary spastic paraplegia with characteristics of delay in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982. Preferred (foundation metadata concept)
A complex form of hereditary spastic paraplegia with characteristics of spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992. Preferred (foundation metadata concept)
A complex form of hereditary spastic paraplegia, with onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy. The SPG36 phenotype has been mapped to a locus on chromosome 12q23-q24. Preferred (foundation metadata concept)
A complex form of young-onset Parkinson disease that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms. To date, only six families have been reported. Mutations in the genes ATP13A2 (1p36), PLA2G6 (22q13.1), FBXO7 (22q12.3), DNAJC6 (1p31.3), SPG11 (15q13-q15), SPG15 (14q24.1) and SYNJ1 (21q22.2) are associated with this disease. Usually occurs in an autosomal recessive manner however, sporadic cases have also been reported and the majority of these cases are born from consanguineous parents. Preferred (foundation metadata concept)
A complex hereditary spastic paraplegia with characteristics of delayed motor development, spasticity and inability to walk, later progressing to quadriplegia, motor aphasia, bowel and bladder dysfunction. Patients also present with vision problems and mild intellectual disability. The disease affects only males. Preferred (foundation metadata concept)
A complex hereditary spastic paraplegia with characteristics of mild to severe lower limbs spasticity, hyperreflexia, extensor plantar responses, pes cavus and significant wasting and weakness of the small hand muscles. Impaired vibration sensation, temporal lobe epilepsy and cognitive dysfunction were also reported. Preferred (foundation metadata concept)
A complex hereditary spastic paraplegia with characteristics of progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense. Preferred (foundation metadata concept)
A complex mixture consisting of allergenic proteins derived from natural sources used for allergy diagnosis by skin or provocation testing. Preferred (foundation metadata concept)
A complex mixture consisting of allergenic proteins derived from natural sources used for allergy treatment by subcutaneous or oral/sublingual route. Preferred (foundation metadata concept)
A complex mixture consisting of allergenic proteins derived from natural sources. May be used for diagnosis or therapy. Extracts used for diagnosis have the same active ingredients as those used for therapy but may differ by concentration, diluent or other additives. Preferred (foundation metadata concept)
A complex type of hereditary spastic paraplegia with onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (oromandibular dyskinesia, rigidity) and cerebellar (dysdiadochokinesia and incoordination) signs. Subtle abnormalities (for example developmental delay) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging. Preferred (foundation metadata concept)
A component has been made inactive because it duplicates another component of the same type. E.g. A description that duplicates another description or a concept that duplicates another concept. Preferred (foundation metadata concept)

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