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 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)
A form of localised dystrophic epidermolysis bullosa characterised by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed.	Preferred (foundation metadata concept)
A form of localised dystrophic epidermolysis bullosa characterised by trauma-induced blistering confined primarily to the hands and feet. Healing of blisters is associated with milia formation, atrophic scarring and dystrophic nails. There is no extracutaneous involvement.	Preferred (foundation metadata concept)
A form of monogenic obesity with characteristics of severe early-onset obesity and marked hyperphagia. Patients with congenital leptin deficiency are severely hyperphagic from early infancy and, although birthweight is normal, they rapidly become obese during early childhood. An increased susceptibility to infections has also been reported in these infants and appears to be associated with reduced numbers of circulating CD4+ T cells, and impaired T cell proliferation and cytokine release. Absence of serum leptin is caused by homozygous frameshift or missense mutations in the ob gene (7q31.3) and is inherited as an autosomal recessive trait.	Preferred (foundation metadata concept)
A form of non-spastic cerebral palsy with decreased muscle tone, noticeably floppy muscles with poor or no head control.	Preferred (foundation metadata concept)
A form of non-syndromic multisutural craniosynostosis characterised by bilateral premature fusion of the lambdoid sutures, resulting in flattening and widening of the entire occipital region, with compensatory bossing of the vertex region (giving the cranium an elongated shape), and anterior-posterior displacement of the ears.	Preferred (foundation metadata concept)
A form of non-syndromic multisutural craniosynostosis characterised by premature fusion of the bicoronal and metopic sutures, resulting in brachycephaly and trigonocephaly.	Preferred (foundation metadata concept)
A form of non-syndromic multisutural craniosynostosis characterised by premature fusion of the bicoronal and sagittal sutures.	Preferred (foundation metadata concept)
A form of non-syndromic multisutural craniosynostosis characterised by premature fusion of the metopic and sagittal sutures, resulting in trigonocephaly and scaphocephaly but with mild frontal bossing.	Preferred (foundation metadata concept)
A form of non-syndromic multisutural craniosynostosis characterised by premature fusion of the unicoronal and sagittal sutures, resulting in anterior plagiocephaly with contralateral frontal bulging and elongated head shape (turricephaly). Orbital abnormality and strabismus are associated features.	Preferred (foundation metadata concept)
A form of non-syndromic unisutural craniosynostosis characterised by premature fusion of one of the two lambdoid sutures, resulting in ipsilateral occipitoparietal flattening, contralateral parietal and frontal bossing, occipitomastoid bulge, and posterior-inferior displacement of the ipsilateral ear. The skull appears trapezoid from above, while the face is typically C-shaped with ipsilateral convexity.	Preferred (foundation metadata concept)
A form of non-syndromic unisutural craniosynostosis characterised by premature fusion of one of the two squamosal sutures. Most cases of isolated unilateral squamosal craniosynostosis are normocephalic. The risk of increased intracranial pressure is low.	Preferred (foundation metadata concept)
A form of non-syndromic unisutural craniosynostosis characterised by the premature fusion of one of the two coronal sutures of the newborn, leading to plagiocephaly with flattening of the ipsilateral side of the forehead and a compensatory bulging of the contralateral side. Ocular anomalies (strabismus, hypermetropia, astigmatism) due to orbital dystopia, and ocular torticollis, are commonly associated with unicoronal craniosynostosis.	Preferred (foundation metadata concept)
A form of non-syndromic unisutural craniosynostosis characterised by the premature fusion of the suture between the frontal and sphenoid bones of the newborn, leading to frontal flattening and asymmetry of the forehead with recession of the supraorbital rim on the fused side of the head.	Preferred (foundation metadata concept)
A form of oculocutaneous albinism (OCA) characterised by a spectrum of hypopigmentation of skin hair and eyes, ranging from little or no pigmentation to localised pigmentation. Nystagmus, photophobia and reduced visual acuity are frequently present. The subtypes include OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).	Preferred (foundation metadata concept)
A form of oculocutaneous albinism (OCA) characterised by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature.	Preferred (foundation metadata concept)
A form of oculocutaneous albinism characterised by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity.	Preferred (foundation metadata concept)
A form of oculocutaneous albinism characterised by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.	Preferred (foundation metadata concept)
A form of oculocutaneous albinism characterised by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally. Patients have been reported only in a consanguineous Pakistani family. The responsible gene has not yet been detected.	Preferred (foundation metadata concept)
A form of peeling skin syndrome characterised by a generalised distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterised by generalised white scaling with superficial non-inflammatory peeling of the skin, while PSS type B is characterised by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy.	Preferred (foundation metadata concept)
A form of pontocerebellar hypoplasia characterised by microcephaly, severe global developmental delay and intellectual disability, dysmorphic facial features, cerebellar syndrome, and pontocerebellar hypoplasia on brain imaging. Behavioural abnormalities are frequently observed. Other reported manifestations include seizures, ocular anomalies, recurrent respiratory infections, and thin or absent corpus callosum, among others.	Preferred (foundation metadata concept)
A form of pontocerebellar hypoplasia characterised by severe, progressive microcephaly and severe global developmental delay apparent from birth, severe intellectual disability with lack of social interactions and absence of speech, and pontocerebellar hypoplasia and complete or partial agenesis of the corpus callosum on brain imaging. In addition, affected individuals often present hypotonia, spastic tetraplegia, and early-onset seizures. Chronic anaemia and thrombocytopenia have also been reported.	Preferred (foundation metadata concept)
A form of pontocerebellar hypoplasia with characteristics of infantile onset of severe global developmental delay with absent speech, hypotonia, feeding problems, dysmorphic craniofacial features, and development of pontocerebellar hypoplasia on brain imaging later in childhood. Other structural abnormalities of the brain, which may already be apparent at an earlier stage, include small hippocampus, thin corpus callosum, periventricular white matter abnormalities, and Dandy-Walker malformation. Seizures, nystagmus, and cortical visual impairment have been reported in some cases.	Preferred (foundation metadata concept)
A form of porto-sinusoidal vascular disease characterised histologically by varying degrees of phlebosclerosis, primarily involving the small and medium branches of the portal vein with heterogeneous distribution, in the absence of cirrhosis.	Preferred (foundation metadata concept)
A form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.	Preferred (foundation metadata concept)
A form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ).	Preferred (foundation metadata concept)
A form of rare haemochromatosis (HC) characterised by excessive tissue iron deposition of genetic origin and presenting with liver disease, hypogonadism, arthritis, diabetes and skin pigmentation.	Preferred (foundation metadata concept)
A form of rare haemochromatosis (HC) with characteristics of increased transferrin saturation and hepatocellular iron deposition with distribution patterns and clinical features indistinguishable from patients with other types of HC. The disease is due to gain-of-function (GOF) mutations of the ferroportin gene (SLC40A1) on chromosome 2. These mutations cause an hepcidin-independent increase in cellular iron export with increased intestinal iron absorption and iron release from spleen macrophages. Transmission is autosomal dominant.	Preferred (foundation metadata concept)
A form of sexual abuse where the child is sexually exploited for money, power or status.	Preferred (foundation metadata concept)
A form of spastic cerebral palsy affecting all four limbs with neck and head paralysis, often accompanied by eating and breathing complications.	Preferred (foundation metadata concept)
A form of spastic cerebral palsy affecting all four limbs; the term bilateral hemiplegia may also be used when one side has a significantly different tone compared with the other.	Preferred (foundation metadata concept)
A form of spastic cerebral palsy affecting both sides of the body; the Surveillance of Cerebral Palsy in Europe (SCPE) does not recommend the use of diplegia/quadriplegia terms, and recommends using instead the term bilateral spastic cerebral palsy and subtypes.	Preferred (foundation metadata concept)
A form of spastic cerebral palsy affecting only one limb	Preferred (foundation metadata concept)
A form of spastic cerebral palsy affecting the arm and/or leg on one side of the body. An ipsilateral upper and/or lower extremity is affected.	Preferred (foundation metadata concept)
A form of spastic cerebral palsy affecting the lower half of the body, including both legs.	Preferred (foundation metadata concept)
A form of spastic cerebral palsy affecting three limbs; this could be both arms and a leg, or both legs and an arm. In some instances, it has referred to one upper and one lower extremity and the face.	Preferred (foundation metadata concept)
A form of spastic cerebral palsy affecting two limbs; usually the legs are affected more than the arms.	Preferred (foundation metadata concept)
A form of spondyloarthritis in which the predominant symptom is back pain, and where radiographic sacroiliitis might or might not be present.	Preferred (foundation metadata concept)
A form of spondylodysplastic Ehlers-Danlos syndrome (EDS) due to variants in the SLC39A13 gene and characterised by the presence of thin and finely wrinkled skin of the hands and feet, hypermobile distal joints, characteristic facial features (downslanting palpebral fissures, mild hypertelorism, prominent eyes with a paucity of periorbital fat, blueish sclerae, microdontia or oligodontia), muscular hypotonia, associated with significant short stature of childhood-onset, ocular findings (myopia and keratoconus) and, more rarely, vascular complications. Mild radiographic changes were observed, among which platyspondyly is a useful diagnostic feature.	Preferred (foundation metadata concept)
A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B3GALT6 and characterised by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, bowing of limbs and congenital or early onset, progressive kyphoscoliosis. Additional features include the typical craniofacial gestalt (prominent forehead, sparse hair, mid-face hypoplasia, blue sclerae, proptosis and abnormal dentition), hyperextensible, soft, thin, translucent and doughy skin, delayed motor and/or cognitive development, characteristic radiographic findings (spondyloepimetaphyseal dysplasia, platyspondyly, anterior beak of vertebral body, short ilia, elbow malalignment and generalised osteoporosis), joint contractures and ascending aortic aneurysm.	Preferred (foundation metadata concept)
A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B4GALT7 and characterised by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, and bowing of limbs. Additional features include the typical craniofacial gestalt (mid-face hypoplasia, round, flat face, proptosis and narrow mouth), hyperextensible skin that is soft, thin, translucent and doughy, delayed motor and/or cognitive development, characteristic radiographic findings (such as radio-ulnar synostosis, radial head subluxation or dislocation, metaphyseal flaring and osteopenia) and ocular abnormalities.	Preferred (foundation metadata concept)
A form of therapy aimed at supporting or developing socially valued roles for individuals or groups who are perceived to be of lesser value by the society in which they live.	Preferred (foundation metadata concept)
A form of thoracic outlet syndrome that manifests as unilateral (rarely bilateral) arm pain and cyanosis. The disease occurs in young adults, usually after excessive arm activity. The characteristic symptoms, caused by venous obstruction, are arm swelling, cyanosis and pain. Repetitive arm motion and compression of the subclavian vein in the neck (between the clavicle and the first rib) leads to scar tissue that can predispose to thrombosis due to narrowing of vessels.	Preferred (foundation metadata concept)
A form of von Willebrand disease (VWD) characterised by a bleeding disorder associated with a partial, quantitative plasmatic deficiency of an otherwise structurally and functionally normal von Willebrand factor (VWF).	Preferred (foundation metadata concept)
A form of von Willebrand disease (VWD) characterised by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (VWF). Depending on the type of functional abnormalities, this form is classified as type 2A, 2B, 2M or 2N.	Preferred (foundation metadata concept)
A form of von Willebrand disease (VWD) characterised by a bleeding disorder associated with a total or near-total absence of Willebrand factor (VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII). It is the most severe form of VWD.	Preferred (foundation metadata concept)
A fracture of the articular surface of a bone, produced by a force transmitted from the articular surface of a contiguous bone across the joint and through the articular cartilage to the subchondral trabeculae of the fractured bone. The cartilage itself is not necessarily torn.	Preferred (foundation metadata concept)
A fracture that occurs in proximity to an implant.	Preferred (foundation metadata concept)
A fracture that occurs when the mechanical strength of a bone is reduced to the point at which a stress that would not fracture a healthy bone breaks the weak one.	Preferred (foundation metadata concept)
A frame consisting of 3 or 4 legs which aids a person with walking. Some walking frames come with wheels at the front to help move the frame. The frame is moved by either lifting the entire frame or by tilting the frame off the back legs and onto the front wheels.	Preferred (foundation metadata concept)
A galloping sound on cardiac auscultation because of an abnormally audible fourth heart sound.	Preferred (foundation metadata concept)
A galloping sound on cardiac auscultation because of an abnormally audible third heart sound.	Preferred (foundation metadata concept)
A gamma beta^+^ hereditary persistence of fetal hemoglobin AND beta^0^ thalassemia in cis (disorder)	Preferred (foundation metadata concept)
A gas supplied under pressure which is entirely gaseous at - 50 °C.	Preferred (foundation metadata concept)
A gas supplied under pressure, which is partially liquid (gas over liquid) at -50 °C.	Preferred (foundation metadata concept)
A gas which liquifies at 1.013 bar at a temperature below -150 °C.	Preferred (foundation metadata concept)
A gastroenteral route that begins in the intestinal tract (within the small and large intestines).	Preferred (foundation metadata concept)
A gastroenteral route that begins through a surgically created opening into the gastrointestinal tract.	Preferred (foundation metadata concept)
A gastroenteral route that begins within the oesophagus.	Preferred (foundation metadata concept)
A gastroenteral route that begins within the stomach.	Preferred (foundation metadata concept)
A general position for a supernumerary tooth located somewhere other than the midline of the dental arch.	Preferred (foundation metadata concept)
A general term used to refer to any damage to or abnormality of the joint structure or surrounding soft tissue resulting in a limitation of joint movement.	Preferred (foundation metadata concept)
A generalised onset seizure type with a myoclonic jerk leading to an atonic motor component. This type was previously called myoclonic-astatic. A seizure originating at some point within, and rapidly engaging, bilaterally distributed networks.	Preferred (foundation metadata concept)
A generalised onset tonic-clonic epileptic seizure of more than 5 minutes duration.	Preferred (foundation metadata concept)
A genetic cause of hypertension secondary to primary aldosteronism that is not suppressed with dexamethasone. Patients present with an adrenal adenoma that secretes aldosterone.	Preferred (foundation metadata concept)
A genetic condition characterised by hereditary susceptibility to breast and/or ovarian cancer. It can be defined using family history criteria, or through identification of germline pathogenic variants (GPVs) in clinically validated HBOC genes. However, the genetic basis of about half of clinical HBOC is currently unknown or unexplained by single-gene variants, and approximately half of individuals who harbour PVs in HBOC genes do not have a suggestive family history.	Preferred (foundation metadata concept)
A genetic male infertility characterised by azoospermia or oligozoospermia due to chromosome Y microdeletion.	Preferred (foundation metadata concept)
A genetic syndrome characterised by the absence of all four limbs.	Preferred (foundation metadata concept)
A genetic syndrome with limb reduction defects characterised by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.	Preferred (foundation metadata concept)
A genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterised by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).	Preferred (foundation metadata concept)
A genetically heterogeneous autosomal recessive syndrome characterised by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.	Preferred (foundation metadata concept)
A genetically inherited anomaly of glycogen metabolism and a form of glycogen storage disease (GSD) characterised by fasting hypoglycaemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.	Preferred (foundation metadata concept)
A genodermatosis with characteristics of the presence of multiple hamartomas of the hair follicle. It has been described in one family so far.	Preferred (foundation metadata concept)
A gingival drainage tract associated with an oral abscess of odontogenic origin.	Preferred (foundation metadata concept)
A gingival route that begins beneath the free margin of the gingivae.	Preferred (foundation metadata concept)
A glycogen storage disease of adults with characteristics of progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia. The prevalence is unknown. More than 50 cases have been described to date in Ashkenazi (in most cases) and non-Ashkenazi Jewish individuals. Presents after the age of 40, with urinary incontinence (indicative of neurogenic bladder) often being the first manifestation. Caused by a mutation in the GBE1 gene, encoding the glucan (1, 4-alpha-) branching enzyme 1 (GBE).	Preferred (foundation metadata concept)
A graft derived from hair-bearing skin.	Preferred (foundation metadata concept)
A graft of small pieces or strips placed apart from each other on the wound or defect.	Preferred (foundation metadata concept)
A graft of the epidermis and less than the entire thickness of the dermis of the skin.	Preferred (foundation metadata concept)
A graft of the epidermis and the entire thickness of the dermis of the skin.	Preferred (foundation metadata concept)
A granulomatous, inflammatory disorder of the eye; reaction to vegetable or insect hairs.	Preferred (foundation metadata concept)
A greater than expected number of suicides occurring either close in time, place or both.	Preferred (foundation metadata concept)
A group of autosomal recessive disorders affecting the formation of functional peroxisomes, with characteristics of sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment and is comprised of the phenotypic variants Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease. The mutations found in 90% of PBD-ZSS patients are in the PEX1, PEX6, PEX10, PEX12 or PEX26 genes. Impaired metabolism results in the accumulation of very-long-chain fatty acids which damage developing neural cells. Accumulation of toxic bile acid intermediates damages the liver. The decreased synthesis of docosahexanoic acid (DHA) and ether phospholipids (plasmalogens) impairs cell membranes.	Preferred (foundation metadata concept)
A group of disorders including ankylosing spondylitis, axial spondylarthritis, spondyloarthritis due to inflammatory bowel disease, and other conditions. They share the common features of inflammation of axial joints, asymmetric oligoarthritis, dactylitis, and enthesitis.	Preferred (foundation metadata concept)
A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.	Preferred (foundation metadata concept)
A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).	Preferred (foundation metadata concept)
A group of epilepsies characterised by age-dependent occurrence of drug responsive focal seizures in otherwise normal children. Seizures are focal motor or sensory with or without impaired awareness and may evolve to bilateral tonic-clonic seizures. Remission usually occurs by puberty. Development and cognition are typically normal. Neurological examination is normal. No significant structural lesions of the brain are present, and presumed genetic factors have an important role. The electroencephalogram (EEG) background activity is normal. Seizure semiology and EEG features are specific for each of the syndromes included in this group.	Preferred (foundation metadata concept)
A group of inborn errors of biotin metabolism characterised by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. This group includes biotinidase deficiency and biotin holocarboxylase synthetase deficiency.	Preferred (foundation metadata concept)
A group of rare acute leukaemias of ambiguous lineage characterised by the presence of separate populations of blasts of more than one lineage (bilineal), a single population of blasts coexpressing antigens of more than one lineage (biphenotypic), or a combination thereof. The diagnosis relies on immunophenotyping, the T-cell component being characterised by strong expression of cytoplasmic CD3, usually in the absence of surface CD3, the B-cell component expressing CD19, almost always together with CD10, cCD79a, CD22, or PAX5, while the most specific hallmark of the myeloid component is the presence of myeloperoxidase in the blast cytoplasm.	Preferred (foundation metadata concept)
A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.	Preferred (foundation metadata concept)
A group of rare autosomal recessive forms of ichthyosis clinically characterised by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalised distribution for generalised PSS type A (noninflammatory) or B (inflammatory).	Preferred (foundation metadata concept)
A group of rare central nervous system malformations characterised by varying degrees of absence or dysplasia of the derivatives of the prosencephalon (i.e. telencephalon and diencephalon), with an intact cranial vault. The spectrum comprises atelencephaly, the less severe form, in which only the telencephalon is affected, and aprosencephaly, where the diencephalon is also involved. The malformations may occur in an isolated form or in association with other anomalies.	Preferred (foundation metadata concept)
A group of rare monogenic primary immunodeficiency disorders characterised by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial, or fungal infections, diarrhoea and failure to thrive.	Preferred (foundation metadata concept)
A group of rare, genetic, neurodegenerative diseases characterised by an infancy- to childhood-onset of progressive spastic paraplegia (with delayed motor milestones, gait disturbances, hyperreflexia and extensor plantar responses), optic atrophy (which may be accompanied by nystagmus and visual loss) and progressive peripheral neuropathy (with sensory impairment and distal muscle weakness/atrophy in upper and lower extremities). Additional signs may include foot deformities, spinal defects (scoliosis, kyphosis), joint contractures, exaggerated startle response, speech disorders, hyperhidrosis, extrapyramidal signs and intellectual disability. In very rare cases, a variant phenotype with less prominent or absent optic atrophy and/or neuropathy may be observed.	Preferred (foundation metadata concept)
A group of small reddish or purplish spots in skin or mucous membrane as a result of localised haemorrhage.	Preferred (foundation metadata concept)
A grouper concept for annotation attributes that are represented as additional relationships.	Preferred (foundation metadata concept)
A grouper concept for substances that are used in medicinal products for medical treatment, and also psychoactive substances that have few or no legitimate medical uses or that are not legally available to the person using them.	Preferred (foundation metadata concept)
A grouping of primary and secondary sites of somatic dysfunction describing a three-segment complex fundamental to dysfunction in a mobile system. Each adjacent segment, above and below the primary locus, demonstrates opposing asymmetries to that locus.	Preferred (foundation metadata concept)
A grouping term for a collective of languages known as the Altaic languages.	Preferred (foundation metadata concept)
A health examination for a member of a population with limited access to healthcare services, such as those on low income, those from a minority ethnic background or those with a language barrier.	Preferred (foundation metadata concept)
A healthcare professional that possesses expertise in a clinical domain and provides advice on the diagnosis and management of individuals with conditions related to that domain.	Preferred (foundation metadata concept)

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Reference Sets

Reference set descriptor

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Id	Description	Lang	Type	Status	Case?	Module
900000000001112010	Great Britain English language reference set	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)
900000000001113017	GB English	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)
900000000001114011	Great Britain English language reference set (foundation metadata concept)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)