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 range of disorders stemming from the single or repeated use of predominantly psychoactive substances, including certain medications. Initially, these substances provide pleasurable effects, encouraging further use. Over time, however, this can lead to dependence and severe mental and physical health issues. These disorders also cover harmful non-medical use of non-psychoactive substances. They result in significant impairment, exhibiting cognitive, behavioural, and physiological symptoms, and persist despite adverse consequences, underscoring their complex and damaging impact.	Preferred (foundation metadata concept)
A ranked assessment on a scale of 1 to 3 of the glandular/tubular differentiation in the region of malignant breast tissue. Three represents the highest level of differentiation. Used in conjunction with similar scoring of mitotic rate and nuclear pleomorphism as the basis of rendering a histologic grade of the ductal carcinoma.	Preferred (foundation metadata concept)
A ranked assessment on a scale of 1 to 3 of the mitotic activity in the region of malignant breast tissue. Three represents the highest level of mitotic rate. Used in conjunction with similar scoring of nuclear pleomorphism and glandular differentiation as the basis of rendering a histologic grade of the ductal carcinoma.	Preferred (foundation metadata concept)
A ranked assessment on a scale of 1 to 3 of the pleomorphism in the region of malignant breast tissue. Three represents the highest level of pleomorphism. Used in conjunction with similar scoring of mitotic rate and glandular differentiation as the basis of rendering a histologic grade of the ductal carcinoma.	Preferred (foundation metadata concept)
A rare ARX-related epileptic encephalopathy characterised by infantile onset of myoclonic epilepsy with generalised spasticity, severe global developmental delay, and moderate to profound intellectual disability. Obligate female carriers show subtle, generalised hyperreflexia. Late onset progressive spastic ataxia has also been reported.	Preferred (foundation metadata concept)
A rare B-cell non-Hodgkin lymphoma characterised by the presence of small B-lymphocytes, plasmacytoid lymphocytes, and plasma cells, and either non-secreting or secreting IgG or IgA paraproteins. The disease usually involves the bone marrow, sometimes also the spleen or lymph nodes. Patients typically present with symptoms related to anaemia. Hyperviscosity, autoimmune phenomena, and B symptoms may also be observed. Mortality is higher as compared to Waldenström macroglobulinaemia.	Preferred (foundation metadata concept)
A rare DNA repair defect other than combined T-cell and B-cell immunodeficiencies characterised by intrauterine and postnatal growth retardation resulting in short stature, microcephaly, glucocorticoid deficiency, natural killer cell deficiency, and recurrent viral infections. Patients may also have increased susceptibility to cancer.	Preferred (foundation metadata concept)
A rare IgG4-related disease characterised by a benign tumour-like chronic inflammatory lesion of the submandibular gland. Histologic features are periductal fibrosis, acinar atrophy, obliterative phlebitis, dense lymphoplasmacytic infiltrates rich in IgG4-positive plasma cells, and formation of lymphoid follicles. Lobular architecture is preserved. Patients most commonly present with unilateral, painless swelling of the submandibular gland. Serologic analysis reveals elevated IgG4 levels.	Preferred (foundation metadata concept)
A rare PIK3CA-related overgrowth syndrome disease characterised by segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable, although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones and progresses in a distal to proximal pattern. Congenital overgrowth is typically associated.	Preferred (foundation metadata concept)
A rare Prader-Willi-like syndrome characterised by arthrogryposis, including contractures of the proximal and distal interphalangeal joints, and autism spectrum disorder due to MAGEL2 mutation. Overlapping phenotypes with Prader-Willi syndrome include hypotonia, feeding difficulties, weight gain, developmental delay, intellectual disability and hypogonadism. Minority of patients manifest hyperphagia and morbid obesity in contrast to patients with Prader-Willi syndrome.	Preferred (foundation metadata concept)
A rare Prader-Willi-like syndrome characterised by severe obesity due to SIM1 mutation, in addition to some clinical features of Prader-Willi- syndrome including intellectual disability, developmental delay, behaviour problems and facial dysmorphism. Unlike Prader-Willi syndrome, short stature, hypotonia and hypogonadism may not be observed.	Preferred (foundation metadata concept)
A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed.	Preferred (foundation metadata concept)
A rare T-B+ severe combined immunodeficiency characterised by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Hypogammaglobulinaemia has also been reported. Patients generally present in infancy with recurrent infections, failure to thrive, rash, fever, hepatosplenomegaly, lymphadenopathy, and pancytopenia.	Preferred (foundation metadata concept)
A rare T-B+ severe combined immunodeficiency characterised by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Patients generally present in infancy with recurrent infections, failure to thrive, fever, diarrhoea, and dermatitis.	Preferred (foundation metadata concept)
A rare T-B+ severe combined immunodeficiency characterised by profoundly decreased levels of T-cells, normal B-cells, and low immunoglobulin levels. The thymus is present. Patients typically become symptomatic in infancy or early childhood with recurrent infections. Epstein-Barr virus (EBV)-associated B-cell lymphoproliferative syndrome/lymphoma and mucocutaneous-immunodeficiency syndrome have been reported in association. Some patients may show developmental delay, neurocognitive impairment, and behavioural dysfunction (in particular attention deficit-hyperactivity disorder).	Preferred (foundation metadata concept)
A rare T-cell non-Hodgkin lymphoma characterised by generalised lymphadenopathy and predominantly follicular or perifollicular growth pattern, consistent with the expression of T-follicular helper markers. Affected individuals distinctly lack histologic features (such as proliferation of high endothelial venules and expanded follicular dendritic meshworks) typically associated to angioimmunoblastic T-cell lymphoma. It affects elderly individuals (mostly at the sixth decade of life) that present with advanced-stage disease. Majority of the cases have disseminated nodal involvement, whereas involvement of extranodal sites including skin, liver, spleen and bone marrow are also reported. Patients may therefore develop skin rash and immune manifestations.	Preferred (foundation metadata concept)
A rare T-cell non-Hodgkin lymphoma characterised by monomorphic cytomorphology and epitheliotropism. It is mostly detected in the small intestine but can also be present in the colon, duodenum or stomach. It is an aggressive tumour that can disseminate to mesenteric lymph nodes, lung, liver, brain and skin. Major clinical features include abdominal pain, gastrointestinal bleeding, obstruction or perforation, diarrhoea, and weight loss. It is not associated to coeliac disease.	Preferred (foundation metadata concept)
A rare X-linked cerebellar ataxia, characterised by a combination of upper and lower motor neuron signs, with an age of onset in the first or second decade, slow progression, and normal intelligence. Typical features of cerebellar dysfunction include gait and limb ataxia, intention tremor, dysmetria, dysdiadochokinesia, dysarthria, nystagmus, and hyperreflexia. Further phenotypic features are pes cavus, scoliosis, muscle atrophy, and peripheral sensory and motor nerve abnormalities.	Preferred (foundation metadata concept)
A rare X-linked disorder of purine metabolism associated with hyperuricaemia and hyperuricosuria and comprised of two forms: an early-onset severe form characterised by gout, urolithiasis, and neurodevelopmental anomalies and a mild late-onset form with no neurologic involvement.	Preferred (foundation metadata concept)
A rare X-linked genomic disorder associated with interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. It is characterised in males by infantile onset hypotonia, severe global developmental delay, intellectual disability, progressive spasticity, seizures, gastrointestinal symptoms and recurrent respiratory infections. In females, the phenotype is more variable.	Preferred (foundation metadata concept)
A rare X-linked intellectual disability characterised by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastro-oesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.	Preferred (foundation metadata concept)
A rare X-linked malformation syndrome characterised by craniofacial abnormalities such as uni- or bicoronal synostosis, hypertelorism and a bifid nose, grooved or split nails, frizzy hair, abnormalities of the shoulder girdle, hands and feet.	Preferred (foundation metadata concept)
A rare X-linked spinocerebellar ataxia characterised by ataxia, pyramidal tract signs and adult-onset dementia. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability characterised by a variable clinical picture including developmental delay, mild to moderate intellectual disability, learning difficulties, communication deficits, and behavioural problems (such as aggression, attention deficit, hyperactivity, and autistic features). Personality disorder and psychotic behaviour have also been reported.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability characterised by congenital and permanent vocal cord paralysis causing severe congenital laryngeal stridor, associated with intellectual disability in male patients. Other presenting symptoms may include weak cry, cough, cyanosis, neonatal asphyxia, feeding difficulty, aspiration, and bronchiectasis. Microcephaly, tone abnormalities, visual and hearing impairment may also be associated features.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability characterised by congenital sensorineural hearing loss, varying degrees of intellectual disability, short stature, and dysmorphic facial features (such as telecanthus, epicanthic folds, broad nasal root, malar hypoplasia, low-set ears, dental anomalies, and micrognathia). Additional reported manifestations include microcephaly, renal and genitourinary abnormalities, widely spaced, hypoplastic nipples, and adult onset of progressive pancytopenia.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability characterised by developmental delay and intellectual disability, early hypotonia, constipation, feeding problems, imperforate anus, characteristic behaviour (affable, eager to please), and dysmorphic craniofacial features (such as relative macrocephaly, prominent forehead with frontal hair upsweep, hypertelorism, downslanting palpebral fissures, and open mouth). Additional manifestations are partial agenesis of the corpus callosum, sensorineural hearing loss, joint laxity, cardiac anomalies, and abnormalities of the fingers and toes, among others.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability characterised by global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Intellectual disability ranges from mild to severe.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability characterised by global developmental delay and severe intellectual disability, seizures, and recurrent lower respiratory tract infections, resulting in premature death in affected males. Additional reported manifestations include mild dysmorphic facial features (such as epicanthic folds, high nasal bridge, or small mouth), gait disturbances, brisk tendon reflexes, delayed bone age, and tapering fingers. No evident heterozygous manifestation has been reported in females.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability characterised by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly) and early-onset parkinsonism (before 45 years of age), in male patients.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability characterised by intellectual deficit, choroideraemia, horizontal nystagmus, severe myopia, acrokeratosis verruciformis-like skin abnormality, anhidrosis, and scapular winging. There have been no further descriptions in the literature since 1959.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability characterised by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability characterised by intellectual deficit, microcephaly, short stature, and ectodermal anomalies (including alopecia, spontaneous formation of bullae without evident trauma, hyper- or hypopigmented maculae, acrocyanosis, and dystrophic nails) in male patients. Additional reported features are short, tapering fingers, ocular anomalies (such as corneal opacities and cataract), and hypogenitalism. There have been no further descriptions in the literature since 1995.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability characterised by intellectual disability of variable degree, behavioural anomalies (including autism, mood disorders, obsessive-compulsive behaviour, and hetero- and auto-aggression), and epilepsy. Progressive neurological symptoms like movement disorders and spasticity, as well as subtle dysmorphic features have also been reported. Heterozygous females may be as severely affected as males.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability characterised by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability characterised by mild to profound intellectual disability, microcephaly, growth delay, and hypogenitalism. Obesity, early-onset diabetes and epilepsy are more variably present.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability characterised by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability characterised by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioural abnormalities including aggressiveness, agitation, and self-injurious behaviour, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability characterised by variable intellectual deficit, macrocephaly, short stature, and facial dysmorphism (such as prominent forehead, prominent supraorbital ridges, hypertelorism, downslanting palpebral fissures, broad nasal tip, anteverted nostrils, thick lower lip, and localised microdontia). Additional reported features include seizures, post-pubertal macroorchidism, obesity, and short, broad hands with tapered fingers.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability considered to be a severe variant of dyskeratosis congenita characterised by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anaemia.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability which in symptomatic, female carriers is characterised by a highly variable phenotype including facial dysmorphisms (prominent forehead, hypertelorism, down-slanting palpebral fissures, epicanthic folds, thick lips with everted lower vermilion, thick nasal alae, and septum), short hands with tapering fingers, short stature and skeletal findings (progressive kyphoscoliosis). Intellectual disability is mild to moderate, but intellect can also be normal. A high rate of psychiatric disorders has also been reported.	Preferred (foundation metadata concept)
A rare X-linked, syndromic eye disorder characterised by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy.	Preferred (foundation metadata concept)
A rare Y chromosome number anomaly that affects only males and is characterised by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar synostosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility are frequently reported in adult males.	Preferred (foundation metadata concept)
A rare Y chromosome number anomaly with a variable phenotype mainly characterised by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set lop ears, and micrognathia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavioural problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults.	Preferred (foundation metadata concept)
A rare a multisystem disorder characterised by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and progressive, proteinuric steroid-resistant nephropathy.	Preferred (foundation metadata concept)
A rare acid sphingomyelinase deficiency characterised by mild to massive hepatosplenomegaly, hypersplenism leading to thrombocytopenia, interstitial lung disease, dyslipidaemia and central nervous system manifestations (including developmental delay, intellectual disability and ataxia). Some affected individuals may present with coarse facial features.	Preferred (foundation metadata concept)
A rare acquired aplastic anaemia characterised by a severe normocytic anaemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoiesis and megakaryopoiesis. It presents with signs of severe anaemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnoea) in the absence of haemorrhagic symptoms.	Preferred (foundation metadata concept)
A rare acquired developmental anomaly syndrome characterised by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection.	Preferred (foundation metadata concept)
A rare acquired eye disease due to long-term exposure to chloroquine or hydroxychloroquine with slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced colour vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss.	Preferred (foundation metadata concept)
A rare acquired immunodeficiency disorder characterised by the appearance of susceptibility to disseminated opportunistic infections (in particular, disseminated nontuberculous mycobacterial infection, salmonellosis, penicillosis, and varicella zoster virus infection) in previously healthy (HIV-negative) adults, associated with the presence of acquired autoantibodies to interferon gamma. Typical clinical manifestation includes lymphadenopathy (cervical or generalised), fever, weight loss and/or reactive skin lesions.	Preferred (foundation metadata concept)
A rare acquired motor neuron disease with characteristics of an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period.	Preferred (foundation metadata concept)
A rare acquired peripheral neuropathy characterised by paresis of the supraspinatus, infraspinatus, deltoid, and biceps muscles (in C5-C6 injury), wrist and finger extensor muscles (C7 injury), or impaired hand function (C8-Th1 injury) on the affected side due to a traction lesion of the brachial plexus during delivery. The upper trunk of the brachial plexus is most commonly affected, while isolated injury to the lower trunk is very rare. Potential sequelae of brachial plexus injury are muscle atrophy, pain, sensory deficits, and secondary deformities.	Preferred (foundation metadata concept)
A rare acquired peripheral neuropathy characterised by symmetric, slowly progressive, predominantly sensory neuropathy, mostly limited to the legs with numbness and paraesthesia of the distal leg and mild imbalance. Some patients may experience pain, weakness of foot dorsiflexion, mild proximal leg weakness, and/or upper limb involvement. Systemic illnesses are absent in most cases.	Preferred (foundation metadata concept)
A rare acquired skeletal muscle disease characterised by infiltration of the epimysium, perimysium, and perifascicular endomysium by macrophages with crystal inclusions composed of aluminum salts at the site of a previous vaccination (most commonly the deltoid muscle). Muscle necrosis is typically absent. Patients may present with myalgias, arthralgias, muscle weakness, chronic fatigue, asthenia, fever, and cognitive dysfunction. Signs and symptoms usually develop slowly over several months.	Preferred (foundation metadata concept)
A rare acquired skin disease characterised by benign proliferation of mature plasma cells with a typical triad of cutaneous lesions, polyclonal hypergammaglobulinaemia, and superficial lymphadenopathy, without an apparent underlying cause. The skin lesions consist of multiple round-to-oval, red-to-dark-brown macules, papules, and plaques most commonly found on the trunk, but also the face, neck, and axillae.	Preferred (foundation metadata concept)
A rare acrofacial dysostosis characterised by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997.	Preferred (foundation metadata concept)
A rare acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beaked nose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype.	Preferred (foundation metadata concept)
A rare acute leukaemia of ambiguous lineage characterised by clonal proliferation of primitive haematopoietic cells, primarily in the bone marrow and blood, lacking lineage-specific markers and detectable genotypic alterations. The patients present with leukocytosis, anaemia, variable platelet count and a variety of nonspecific symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (lymphadenopathy, splenomegaly, hepatomegaly).	Preferred (foundation metadata concept)
A rare acute myeloid leukaemia (AML) with recurrent genetic anomaly characterised by the presence of bone marrow and peripheral blood myeloblasts with features ranging from those of minimal differentiation to granulocytic maturation, demonstrating t(9;22)(q34.1;q11.2) or molecular genetic evidence of BCR-ABL1 fusion. Evidence of chronic myeloid leukaemia (CML) is absent. Patients most commonly present with leucocytosis with blast predominance and variable anaemia and thrombocytopenia. Splenomegaly is less frequent and peripheral blood basophilia lower than in patients with myeloid blast transformation of CML. The disease occurs primarily in adults, and response to traditional AML therapy or tyrosine kinase inhibitor therapy alone is typically poor.	Preferred (foundation metadata concept)
A rare adrenal Cushing syndrome characterised by bilateral benign adrenal macronodules (>1 cm) that potentially produce autonomously variable levels of cortisol excess. Although in most cases are ACTH-independent, non-suppressed ACTH levels have been described.	Preferred (foundation metadata concept)
A rare adrenocortical nodular disease characterised by bilateral, multiple micronodules (<1 cm), typically associated with endogenous Cushing syndrome, that occurs predominantly in children and young adults (females in majority). Pigmentation and inter-nodular adrenal cortical atrophy (histological findings present in primary pigmented nodular adrenocortical disease) are generally absent.	Preferred (foundation metadata concept)
A rare adrenocortical nodular disease characterised by increased to normal sized adrenal glands containing multiple small (less than 1 cm in diameter) cortical pigmented (lipofuscin) nodules, surrounded by internodular adrenocortical atrophy. It is typically associated with the development of a form of adrenal Cushing syndrome (CS). Rarely, it has been associated with adrenal macronodules. Whilst PRKAR1A variants are associated with CNC (Carney complex), the mutation c.709-7del6 is mostly associated with i-PPNAD. Other mutations associated with i-PPNAD include PRKACA (germline copy-number gains), PDE11A and PDE8B genes, although these are rare.	Preferred (foundation metadata concept)
A rare aggressive B-cell non-Hodgkin lymphoma characterised by a rearrangement in MYC and BCL2 and/or BCL6 (so-called double-hit or triple-hit lymphoma). The category includes double-hit cases with features intermediate between diffuse large B-cell lymphoma (DLBCL) and Burkitt lymphoma, blastoid cases with a double-hit, and cases with a DLBCL, not otherwise specified, morphology with a double-hit. It refers only to de novo cases, not to lymphomas with a history of pre-existing or coexistent indolent lymphoma. Patients typically present with widespread disease, including involvement of lymph nodes, bone marrow, and central nervous system.	Preferred (foundation metadata concept)
A rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern KwaZulu Natal, South Africa, characterised by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short stature and brachydactyly have been reported in a few patients with MJD.	Preferred (foundation metadata concept)
A rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. There have been no further descriptions in the literature since 1988.	Preferred (foundation metadata concept)
A rare and severe chronic disease characterised by recurrent chronic eczema mainly affecting seborrhoeic areas, a generalised fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent Staphylococcus aureus or beta-hemolytic Streptococcus infections, thought to be a result of HTLV-1-induced immunosuppression.	Preferred (foundation metadata concept)
A rare and severe inborn metabolic disease characterised clinically by the association of severe-to-profound neurodevelopmental impairment, severe visual impairment, ante-postnatal growth impairment, severe scoliosis and, frequently, early-onset epilepsy.	Preferred (foundation metadata concept)
A rare anomaly of puberty or/and menstrual cycle characterised by recurrent fevers (higher than 38 degrees Celsius) associated with the luteal phase of the menstrual cycle in women.	Preferred (foundation metadata concept)
A rare anterior segment developmental anomaly without extraocular manifestations characterised by predominant iris and lens abnormalities, including iris hypoplasia, iris transillumination defects, ectropion uveae, corectopia, iridodonesis with ectopia lentis, and cataracts, with bilateral involvement. Increased intraocular pressure is absent in most patients.	Preferred (foundation metadata concept)
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.	Preferred (foundation metadata concept)
A rare arthrogryposis syndrome characterised by arthrogryposis multiplex congenita with contractures involving multiple joints of the upper and lower limbs, camptodactyly of fingers and toes, skeletal abnormalities such as scoliosis and pectus excavatum, as well as variable speech and motor delay and hypotonia. Facial dysmorphism includes long eyelashes, periorbital fullness, ptosis, epicanthal folds, high arched/cleft palate, and micrognathia.	Preferred (foundation metadata concept)
A rare arthrogryposis syndrome characterised by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993.	Preferred (foundation metadata concept)
A rare association syndrome, reported in several members of two families to date, characterised by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in colour and mainly affecting the skin of the trunk and extremities).	Preferred (foundation metadata concept)
A rare autoimmune bullous skin disease characterised by the formation of subcorneal blisters mediated by autoantibodies against desmoglein 1, affecting predominantly seborrhoeic areas such as the head, neck, and upper trunk, but without any mucosal involvement. The lesions may be worsened by exposure to UV light and typically progress over weeks or months. The disease frequently occurs in children and young adults and is endemic to rural areas of Brazil and other countries in South America, as well as North Africa.	Preferred (foundation metadata concept)
A rare autoimmune connective tissue disorder characterised by abnormal hardening of the skin and sometimes other organs. It is classified into two main forms: localised scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc). Localised scleroderma is the cutaneous form of scleroderma characterised by fibrosis of the skin causing cutaneous plaques (morphea) or strips (linear scleroderma). Systemic sclerosis (SSc) is a generalised disorder characterised by fibrosis and vascular obliteration in the skin and organs, particularly, lungs, heart, and digestive tract. The exact cause of scleroderma is unknown. The disease originates from an autoimmune reaction, which leads to localised overproduction of collagen. In some cases, the condition is associated with exposure to chemicals. Other suggested causes include genetic and infectious mechanisms.	Preferred (foundation metadata concept)
A rare autoimmune encephalitis characterised by various phenotypes depending on the region of the brainstem that is involved; patients present with gaze palsies (in midbrain involvement), facial palsy or vertical gaze palsies (in pontine involvement), dysarthria, dysphagia or central hypoventilation (in medullary involvement). Additional clinical features may also involve pyramidal symptoms and gait impairment.	Preferred (foundation metadata concept)
A rare autoimmune encephalitis involving the mesial temporal lobes and clinically characterised by subacute onset (rapid progression of less than three months) of short-term memory deficits, seizures or psychiatric symptoms, such as behavioural changes, anxiety, depression, and psychosis. Further diagnostic criteria are bilateral abnormalities restricted to the mesial temporal lobes in brain MRI, cerebrospinal fluid pleocytosis and/or epileptic or slow-wave activity involving the temporal lobes in EEG, and reasonable exclusion of alternative causes. Paraneoplastic or non-paraneoplastic antibodies against neuronal antigens may be found in serum and/or cerebrospinal fluid.	Preferred (foundation metadata concept)
A rare autoinflammatory disease and form of mevalonate kinase deficiency (MKD), characterised by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhoea, arthralgia and skin manifestations). The disease usually begins in the first year of life and rarely after 5 years of age. HIDS is an inherited syndrome caused by mutations in the mevalonate kinase (MVK) gene (12q24). These MVK mutations lead to reduced, but not abolished enzyme activity. This in turn leads to impaired control of the production of inflammatory mediators, which in turn cause inflammatory (fever) attacks. The disease follows an autosomal recessive pattern of inheritance.	Preferred (foundation metadata concept)
A rare autoinflammatory disorder characterised by recurrent attacks of fever and sterile abscesses.	Preferred (foundation metadata concept)
A rare autoinflammatory syndrome characterised by episodic and recurrent periods of fever combined with various systemic manifestations such as myalgia, arthralgia, joint swelling, urticaria, headache and skin rash. Common trigger of these episodes is cold.	Preferred (foundation metadata concept)
A rare autoinflammatory syndrome characterised by nodular panniculitis, lipoatrophy, severe early-onset interstitial lung disease, and basal ganglia calcifications. Most patients have progressive isolated B-cell and natural killer cell cytopenias. Respiratory failure was also reported.	Preferred (foundation metadata concept)
A rare autoinflammatory syndrome with characteristics of a chronic-relapsing course of the combination of pyoderma gangrenosum, acne, hidradenitis suppurativa (which, in addition to axillae and inguinal folds, can be observed on upper and lower limbs, back, and buttocks, among others), and ankylosing spondylitis. Typical age of onset is adolescence to young adulthood, with the different signs and symptoms appearing simultaneously or subsequently.	Preferred (foundation metadata concept)
A rare autoinflammatory syndrome with characteristics of a chronic-relapsing course of the combination of pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (which, in addition to axillae and inguinal folds, can be observed on the face, neck, scalp, back, and buttocks, among others). Typical age of onset is adolescence to young adulthood, with the different signs and symptoms appearing simultaneously or subsequently.	Preferred (foundation metadata concept)
A rare autoinflammatory syndrome with characteristics of adult onset of rheumatologic manifestations such as recurrent fever, skin and pulmonary inflammation, ear and nose chondritis, vasculitis, deep vein thrombosis and arthralgia. Laboratory examination reveals progressive haematologic abnormalities including macrocytic anaemia and thrombocytopenia, as well as elevated inflammatory markers. Bone marrow biopsy shows hypercellularity and signs of bone marrow dysplasia. The disease primarily occurs in males and is caused by somatic mutations on chromosome Xp11.	Preferred (foundation metadata concept)
A rare autoinflammatory syndrome with characteristics of the combination of psoriatic arthritis, pyoderma gangrenosum, acne, and suppurative hidradenitis (which, in addition to axillae and inguinal folds, can be observed in other areas, such as the buttocks or labia majora).	Preferred (foundation metadata concept)
A rare autoinflammatory syndrome with characteristics of the presence of features of relapsing polychondritis and Behcet disease in the same individual. This includes cartilage inflammation of the ears, nose, throat and rib cage as well as recurrent oral and genital ulcers respectively. Patients may also present ocular involvement (in particular anterior uveitis or scleritis), arthritis, fever, colitis, thrombophlebitis, and central nervous system vasculitis or in rare cases arterial aneurysms. Symptoms of polychondritis occur secondary to those of Behcet disease in the vast majority of cases.	Preferred (foundation metadata concept)
A rare autoinflammatory syndrome with immune deficiency characterised by recurrent infections (bacterial and viral) due to NCKAP1L mutations. Patients present with recurrent respiratory tract infections and recurrent pneumonia mostly causing bronchiectasis, bacteraemia, and meningitis. Patients also have systemic hyperinflammation which mostly presents with an atopic disease, hepatosplenomegaly, and lymphoproliferation. Cytokine overproduction, antibody abnormalities, elevated IgE levels and increased B cells are observed.	Preferred (foundation metadata concept)
A rare autosomal anomaly characterised by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and cafe-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.	Preferred (foundation metadata concept)
A rare autosomal anomaly characterised by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioural characteristics.	Preferred (foundation metadata concept)
A rare autosomal anomaly defined by the presence of three copies of chromosome 8 in some cells of the body, and clinically characterised by facial dysmorphism, typically deep palmar and plantar creases, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies.	Preferred (foundation metadata concept)
A rare autosomal anomaly syndrome, with a highly variable phenotype, typically characterised by short length, joint abnormalities (e.g. dysplasia, hyperextensibility, contractures, dislocation), congenital cardiac defects, and craniofacial dysmorphism (including microcephaly, a high, prominent, narrow and/or hairy forehead, epicanthus, upward-slanting and/or small palpebral fissures, broad, high or depressed nasal bridge and malformed ears). Delayed motor development and intellectual disability is observed in patients not presenting early demise.	Preferred (foundation metadata concept)
A rare autosomal dominant association characterised clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects.	Preferred (foundation metadata concept)
A rare autosomal dominant cerebellar ataxia characterised by slowly progressive late-onset cerebellar ataxia, variably combined with sensory axonal neuropathy. Patients may present gait and limb ataxia, dysarthria, abnormal oculomotor function, and distal sensory impairment. Cerebellar atrophy is typically mild or absent.	Preferred (foundation metadata concept)
A rare autosomal dominant cerebellar ataxia characterised by slowly progressive late-onset gait and limb ataxia, dysarthria, and variable nystagmus. Brain imaging reveals cerebellar atrophy.	Preferred (foundation metadata concept)
A rare autosomal dominant congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Causative gene mutation is ACTA1 (1q42.13).	Preferred (foundation metadata concept)
A rare autosomal dominant congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Causative gene mutation is TPM3 (1q21.3).	Preferred (foundation metadata concept)
A rare autosomal dominant congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Caused by SELENON (1p36.11) gene mutation.	Preferred (foundation metadata concept)
A rare autosomal dominant disorder characterised by a generalised enlargement of the gingiva occurring at birth or during childhood that is associated with generalised hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.	Preferred (foundation metadata concept)
A rare autosomal dominant disorder characterised by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation.	Preferred (foundation metadata concept)
A rare autosomal dominant distal hereditary motor neuropathy characterised by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. Sensory involvement is typically less pronounced or absent. The severity of the condition is variable, and both lower and upper extremities may be involved.	Preferred (foundation metadata concept)
A rare autosomal dominant distal hereditary motor neuropathy disease characterised by muscle weakness and wasting predominantly affecting the hands, in particular the thenar and first dorsal interosseous muscles, and/or marked foot deformity and gait disturbance. Sensation is normal, although reduced response to vibration has been described. The disease is slowly progressive with an age of onset within the first few decades of life.	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)