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 calorie-controlled, prepackaged product in the form of a bar or beverage that replaces a regular meal.	Preferred (foundation metadata concept)
A canal that runs from optic disc to lens that contains the hyaloid artery in the fetus	Preferred (foundation metadata concept)
A cancer that has spread to nearby tissues or lymph nodes.	Preferred (foundation metadata concept)
A card carried in order to alert others in an emergency situation that the card holder has diabetes.	Preferred (foundation metadata concept)
A care management intervention that is implemented when a patient is discharged to home with a device.	Preferred (foundation metadata concept)
A cataract involving the nucleus of the lens	Preferred (foundation metadata concept)
A 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 cephalometric plane between soft tissue components of the head.	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 certificate which provides authorisation to obtain planned health treatment in another EU (European Union) or EFTA (European Free Trade Association) country.	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 change in the process of overseeing the medications prescribed for a patient to ensure they are taken properly and achieving their planned, therapeutic outcome.	Preferred (foundation metadata concept)
A characteristic ruxolitinib discontinuation syndrome includes an acute relapse of disease symptoms, splenomegaly, and occasional haemodynamic decompensation. Symptoms can appear from less than 24 hours to up to 3 weeks after the abrupt discontinuation of ruxolitinib.	Preferred (foundation metadata concept)
A characteristic selective serotonin reuptake inhibitor (SSRI) discontinuation syndrome is usually mild, commences within 1 week of stopping treatment, resolves spontaneously within 3 weeks, and consists of diverse physical and psychological symptoms, the commonest being dizziness, nausea, lethargy and headache. SSRI reinstatement leads to resolution within 48 hours.	Preferred (foundation metadata concept)
A chart evaluation performed by a physician.	Preferred (foundation metadata concept)
A chart related administrative procedure done by the medical records department	Preferred (foundation metadata concept)
A chart related administrative procedure that involves abstracting information from the chart	Preferred (foundation metadata concept)
A chart-related administrative procedure that checks a chart for completion and accuracy and conformance to chart policy.	Preferred (foundation metadata concept)
A chart-related administrative procedure that involves opening the chart	Preferred (foundation metadata concept)
A child who is vulnerable or facing potential harm, neglect, or adverse circumstances that could negatively impact their well-being and development.	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 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 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 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 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 heterogeneous progressive condition with characteristics of a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy. NARP syndrome is a maternally inherited syndrome and women can transmit to all their offspring. Clinical severity usually depends on the mutation load.	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 cognitive behavioural technique aimed at increasing an individual's awareness and understanding of what is important or matters most to them, and considering these in relation to their decisions and actions.	Preferred (foundation metadata concept)
A cognitive style that focuses on observable, tangible elements and literal interpretation of the physical world, often overlooking abstract concepts. It is a characteristic of early childhood, with abstract thinking developing later. In adults, persistent concrete thinking may indicate cognitive or developmental issues.	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 combination of congenital hyperpigmented and hypopigmented skin lesions coexisting in the same individual.	Preferred (foundation metadata concept)
A common symptom in disorders like schizophrenia with disruption of thought processes causing incoherent and fragmented thinking. It includes tangentiality (drifting off-topic), derailment (unrelated topic shifts), circumstantiality (excessive detail), incoherence (incomprehensible speech), loose associations and neologisms (creating new words).	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 common type of self-limited focal epilepsy syndrome, which begins typically between four and ten years (peak is seven years; range three to twelve years). Seizures are focal, infrequent (most children have fewer than ten in lifetime), brief (typically less than two to three minutes) and occur mostly in sleep (eighty to ninety percent of children). Individuals may have frequent seizures over a few days or weeks and then several months before subsequent seizure. Focal seizures with characteristic frontoparietal opercular features and/or nocturnal bilateral tonic-clonic seizures are mandatory for diagnosis. Characteristic semiology includes somatosensory symptoms (unilateral numbness or paraesthesia of the tongue, lips, gums and inner cheek), orofacial motor signs (unilateral tonic or clonic contractions), speech arrest (dysarthria or anarthria) with preserved understanding, and sialorrhoea. Seizures may evolve rapidly to tonic-clonic activity of the ipsilateral upper limb, to an ipsilateral hemiclonic seizure, or to a focal to bilateral tonic-clonic seizure. Todd paresis may occur postictally. Seizures occurring during sleep are seen within one hour of falling asleep or one to two hours prior to awakening. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram (EEG) background activity is normal. EEG must show centrotemporal biphasic epileptiform discharges which are characteristically high-amplitude complexes (less than 200 microvolts, peak to trough) that activate in drowsiness and sleep. MRI is normal or has nonspecific findings.	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 characterised by progressive lower limbs weakness and spasticity, upper limbs weakness, dysarthria, hypomimia, sphincter disturbances, peripheral neuropathy, learning difficulties, cognitive impairment and dementia. Magnetic resonance imaging shows thin corpus callosum, cerebral atrophy, and periventricular white matter changes.	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)
A component that contains a technical error.	Preferred (foundation metadata concept)
A component that fails to comply with the current editorial guidance.	Preferred (foundation metadata concept)
A component that is no longer current, useful, appropriate or acceptable.	Preferred (foundation metadata concept)
A composite graft is a small graft containing skin and underlying cartilage or other tissue.	Preferred (foundation metadata concept)
A concentric contraction against resistance in which the angular change of joint motion is at the same rate and the counterforce is less than the patient force.	Preferred (foundation metadata concept)
A concept that represents the top (or root) of a SNOMED CT association hierarchy.	Preferred (foundation metadata concept)
A condition characterised by loss of skeletal muscle mass, primarily in the elderly but can be associated with other conditions that are not exclusively seen in older people.	Preferred (foundation metadata concept)
A condition following an arterial switch operation to correct transposition of the great arteries, in which the old aortic root becomes the new pulmonary root and where outflow of blood from the right ventricle of the heart is obstructed at the level of the pulmonic valve.	Preferred (foundation metadata concept)
A condition following an arterial switch operation to correct transposition of the great arteries, in which the old aortic root becomes the new pulmonary root and where the new pulmonary valve does not prevent backflow to the right ventricle.	Preferred (foundation metadata concept)
A condition following an arterial switch operation to correct transposition of the great arteries, in which the old pulmonary root becomes the new aortic root and where the new aortic valve does not prevent backflow to the left ventricle.	Preferred (foundation metadata concept)
A condition following an arterial switch operation to correct transposition of the great arteries, in which the old pulmonary root becomes the new aortic root and where the new aortic valve is narrowed.	Preferred (foundation metadata concept)
A condition in which a child is chronically irritable and experiences frequent, severe temper outbursts that seem grossly out of proportion to the situation.	Preferred (foundation metadata concept)
A condition in which kidney dysfunction or damage occurs due to either a partial or total blockage of the urine outflow from one or both kidneys. This issue stems from a blockage in the urinary tract beneath the kidneys, leading to waste build up within them. Such postrenal obstructions impede urine flow, resulting in urine backflow that damages the kidneys.	Preferred (foundation metadata concept)
A condition in which the placenta is located over or near the internal os of the cervix, increasing the risk of haemorrhage.	Preferred (foundation metadata concept)
A condition occurring in women who have had a bilateral salpingo-oophorectomy, with or without hysterectomy, that leaves behind ovarian tissue. This residual ovarian tissue then results in pelvic symptoms such as pain or mass.	Preferred (foundation metadata concept)
A condition of optimal distribution of body mass in relation to gravity.	Preferred (foundation metadata concept)
A condition that confers a high risk of progression to actual heart failure but lacks actual structural or functional disorder of the heart.	Preferred (foundation metadata concept)
A condition that involves a strong, lasting wish to be disabled, such as losing a major limb or becoming blind, often starting in early adolescence. This condition causes distress or feelings of inappropriateness about being able-bodied. It can lead to negative effects like spending much time pretending to be disabled, which interferes with work, hobbies, or social life (for instance, avoiding relationships to maintain the pretense) or even taking dangerous actions to become disabled, risking health or life.	Preferred (foundation metadata concept)
A condition where a patient requires continuous administration of the drug ruxolitinib to manage their symptoms or disease effectively. This dependence can develop because stopping or reducing the dose of ruxolitinib may lead to a relapse or worsening of the condition it was treating, such as myelofibrosis or polycythaemia vera.	Preferred (foundation metadata concept)
A condition where an individual has an intense and irrational fear of body odours, either their own or those of others. This phobia, like other specific phobias, could potentially cause significant distress and might interfere with the individual's daily life and activities.	Preferred (foundation metadata concept)
A condition where the eyes have a tendency to drift out of alignment, which becomes noticeable only when binocular vision is disrupted. This misalignment is comitant, meaning the degree of deviation remains consistent across all gaze directions.	Preferred (foundation metadata concept)
A condition where there is a noticeable difference in the cupping (or indentation) of the optic disc between the two eyes which may indicate glaucomatous optic nerve damage in the eye with the larger cup-to-disc ratio.	Preferred (foundation metadata concept)
A condition with multiple abnormalities including mild to severe intellectual disability, impaired growth from birth leading to short stature, and microcephaly. Affected individuals may also have distinctive facial features (including a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks), sensorineural hearing loss, and heart malformations	Preferred (foundation metadata concept)
A congenital anomaly of a vertebra in which it develops characteristic(s) of the adjoining structure or region.	Preferred (foundation metadata concept)
A congenital anomaly of the kidney and urinary tract in which one or both kidneys are large, distended by multiple cysts, and non-functional. Global prevalence is not known, but the unilateral form is the most frequent. The disorder frequently presents antenatally at routine ultrasound scan. Bilateral disease is considered a lethal entity and most pregnancies are terminated. The disorder results from disrupted nephrogenesis but the exact pathogenic mechanism is still unknown. Mutations in the HNF1B gene (17q12) are strongly associated with the development of this disease. Most cases are sporadic.	Preferred (foundation metadata concept)
A congenital contiguous gene deletion syndrome, which is a form of alpha-thalassemia characterised by microcytosis, hypochromia, normal haemoglobin level or mild anaemia, associated with developmental abnormalities. Caused by large deletions on chromosome band 16p13.3 which remove the alpha-globin genes (HBA1 and HBA2), and many other flanking genes. The gene(s) responsible for intellectual deficiency and other developmental abnormalities has not been clearly identified. All cases are due to de novo deletions or segregation for parental translocations inherited in an unbalanced manner. The prognosis is highly variable, depending on the degree of intellectual deficiency.	Preferred (foundation metadata concept)
A congenital developmental abnormality of the ileum where there is a gap in the intestine due to a mesenteric defect resulting in obstruction of the ileum; the proximal dilated section of intestine and the distal narrower segment are both blind ends; the intestine may be reduced in length.	Preferred (foundation metadata concept)
A congenital developmental abnormality of the ileum where there is a gap in the intestine resulting in obstruction of the ileum; the proximal dilated section of intestine forms a blind end and is connected to the distal smaller segment by a fibrous cord which runs along the edge of the mesentery; the mesentery is intact and the intestine develops to a normal length.	Preferred (foundation metadata concept)
A congenital developmental abnormality of the ileum where there is a septum occluding the lumen resulting in obstruction of the ileum with proximal intestinal dilation in continuity with a collapsed distal intestine; the intestine develops to a normal length.	Preferred (foundation metadata concept)
A congenital developmental abnormality of the jejunum where there are multiple gaps in the intestine due to a mesenteric defect with elements of type I, type II and type III atresia creating a morphological appearance of a string of sausages; the intestine is always reduced in length.	Preferred (foundation metadata concept)
A congenital developmental abnormality of the jejunum where there is a gap in the intestine due to a mesenteric defect associated with abnormal mesenteric arterial supply and a distal intestinal segment spiral deformity, frequently described as having an apple peel appearance; the intestine is reduced in length.	Preferred (foundation metadata concept)
A congenital developmental abnormality of the jejunum where there is a gap in the intestine due to a mesenteric defect resulting in obstruction of the jejunum; the proximal dilated section of intestine and the distal narrower segment are both blind ends; the intestine may be reduced in length.	Preferred (foundation metadata concept)
A congenital developmental abnormality of the jejunum where there is a gap in the intestine resulting in obstruction of the jejunum; the proximal dilated section of intestine forms a blind end and is connected to the distal smaller segment by a fibrous cord which runs along the edge of the mesentery; the mesentery is intact and the intestine develops to a normal length.	Preferred (foundation metadata concept)
A congenital developmental abnormality of the jejunum where there is a septum occluding the lumen resulting in obstruction of the jejunum with proximal intestinal dilation in continuity with a collapsed distal intestine; the intestine develops to a normal length.	Preferred (foundation metadata concept)
A congenital differentiation of the fifth lumbar vertebra (L5) such that it takes on characteristics of a sacral vertebra. Though the sacralization is usually incomplete and limited to one side, it can be partial or complete on one or both sides of the sacrum	Preferred (foundation metadata concept)
A congenital disorder characterised by nonprogressive cerebellar ataxia, associated with a moderate to profound intellectual disability and delayed ambulation. Gait can be either bipedal or quadrupedal. Additional features include hypotonia, lack of coordination, delayed motor development, seizures, dysarthria, strabismus, short stature, and pes planus. Aetiological subtypes have been reported and include type 1 (CAMRQ1), 2 (CAMRQ2), 3 (CAMRQ3) and 4 (CAMRQ4) which are attributed to mutations in VLDLR (9p24), CA8 (8q12.1), WDR81 (17p13.3) and ATP8A2 (13q12) genes, respectively. Transmission is autosomal recessive.	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)