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 rare primary congenital hypothyroidism characterised by a markedly reduced T4/T3 ratio, normal levels of thyroid-stimulating hormone, and a highly variable clinical phenotype, which most commonly includes decreased metabolic rate, bradycardia, chronic constipation, neurodevelopmental delay, and delayed bone age and skeletal abnormalities. Dysmorphic craniofacial features, such as macrocephaly, broad face, flat nose, large tongue, and thick lips, have also been reported. Some patients may show only minimal signs and symptoms.	Preferred (foundation metadata concept)
A rare primary cutaneous amyloidosis characterised by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalised morphoea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare.	Preferred (foundation metadata concept)
A rare primary germ cell tumour of central nervous system characterised by a lesion typically in the region of the pineal gland and the suprasellar compartment, composed of cytotrophoblastic elements and multinucleated syncytiotrophoblastic giant cells. Ectatic stromal vascular channels, blood lakes, and extensive haemorrhagic necrosis are the rule. The tumour usually arises in the second decade of life and predominantly in males. Clinical presentation depends on location and size and includes signs of increased intracranial pressure, visual disturbances, and endocrine abnormalities. Prognosis is generally poor.	Preferred (foundation metadata concept)
A rare primary glomerular disease characterised by the association of congenital nephrotic syndrome, early onset renal failure and ocular anomalies with microcoria and severe neurodevelopment deficits.	Preferred (foundation metadata concept)
A rare primary headache disorder characterised by unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing).	Preferred (foundation metadata concept)
A rare primary immunodeficiency characterised by a severe, potentially life-threatening course of influenza A infection with acute respiratory distress. Production of type I and III interferons in response to influenza virus is very low, while other immunological abnormalities are absent and no further unusual viral infections occur.	Preferred (foundation metadata concept)
A rare primary immunodeficiency characterised by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype.	Preferred (foundation metadata concept)
A rare primary immunodeficiency characterised by increased susceptibility to infections with candida albicans and weakly pathogenic mycobacteria, such as mycobacterium bovis. Patients present in infancy with chronic mucocutaneous candidiasis of varying severity, disseminated mycobacterial disease, absence of palpable axillary and cervical lymph nodes, reduced thymus size, and variable hepatosplenomegaly. The immunological phenotype comprises mild T-cell lymphopenia, absence of type 1 natural killer T-cells and mucosal-associated invariant T-cells, and low levels of type 3 innate lymphoid cells.	Preferred (foundation metadata concept)
A rare primary immunodeficiency characterised by increased susceptibility to intracellular bacterial and viral infection, with or without increased serum IgE. Clinical manifestations are highly variable, depending on the infection type and location, and can include recurrent otitis, sinusitis, pulmonary and cutaneous infections, meningitis and internal abscesses.	Preferred (foundation metadata concept)
A rare primary immunodeficiency characterised by infantile onset of generalised lymphadenopathy, splenomegaly, and lymphocytosis, with excessive polyclonal expansion of B-cells. Patients present recurrent infections and impaired T-cell and antibody responses, while overt autoimmune manifestations are usually absent. Occurrence of B-cell malignancy later in life has been reported.	Preferred (foundation metadata concept)
A rare primary immunodeficiency characterised by recurrent atypical mycobacterial infections, accompanied by relatively minor viral infections, on an immunological background of reduced induction of expression of interferon-regulated genes and dysregulated cytokine production, as revealed by laboratory studies. Global developmental delay and occurrence of non-haematopoietic malignancy at a young age have been reported in association.	Preferred (foundation metadata concept)
A rare primary immunodeficiency disorder characterised by autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset, severe, recurrent bacterial infections.	Preferred (foundation metadata concept)
A rare primary immunodeficiency disorder characterised by the association of alopecia areata totalis and antibody deficiency (congenital agammaglobulinaemia or incomplete antibody deficiency syndrome), manifesting with recurrent infections. There have been no further descriptions in the literature since 1976.	Preferred (foundation metadata concept)
A rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterised by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV, including generalised varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens.	Preferred (foundation metadata concept)
A rare primary immunodeficiency due to a defect in adaptive immunity characterised by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes.	Preferred (foundation metadata concept)
A rare primary immunodeficiency due to a defect in innate immunity characterised by infantile-onset severe, recurrent bacterial infections. Patients may present with septic shock, meningitis, progressive and severe pneumonia (mostly associated with Pseudomonas infection), malignant otitis media, cutaneous and subcutaneous abscesses and poor wound healing. Severe impairment in neutrophil phagocytosis/migration are reported in all patients. Mild thrombocytopenia can also be present.	Preferred (foundation metadata concept)
A rare primary lymphoedema characterised by a highly variable lymphatic phenotype ranging from severe lymphatic-related hydrops fetalis, which may cause perinatal demise or fully resolve to become completely asymptomatic, to a mild presentation in older patients with persistent varicose veins, peripheral oedema, and impaired lymph drainage in the lower limbs. Atrial septal defect has been described in association and may be the only anomaly in some patients.	Preferred (foundation metadata concept)
A rare primary lymphoedema characterised by bilateral, painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet, dysplastic and upslanting toenails due to oedema of the nailbed, and subtle dysmorphic facial features (such as high forehead, hypertelorism, depressed nasal bridge, mild bilateral ear dysplasia, and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphoedema and significantly more uptake of tracers on lymphoscintigraphy.	Preferred (foundation metadata concept)
A rare primary lymphoedema characterised by extensive, multisegmental lymphoedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal naevi and capillary malformations have also been reported.	Preferred (foundation metadata concept)
A rare primary myoclonus characterised by progressive, involuntary, irregular, clonic or tonic contractions of the muscles innervated by the facial nerve (cranial nerve VII). The symptoms are typically strictly unilateral, mostly persist during sleep, and often occur in the region of the orbicularis oculi muscle first and gradually spread to other parts of the affected half of the face as the disease progresses. Both familial and acquired forms are reported.	Preferred (foundation metadata concept)
A rare primary osteolysis disorder characterised by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure.	Preferred (foundation metadata concept)
A rare primary torsion dystonia characterised by focal or segmental dystonia with onset either in the cranial-cervical region or in the upper limbs. Age of onset varies between 5 years and adulthood, with a mean age of onset of 16 years. Clinical manifestations are generally mild and slowly progressive.	Preferred (foundation metadata concept)
A rare primary vascular anomaly characterised by mostly fusiform, rarely saccular aneurysm of the superior vena cava. Patients can be asymptomatic or manifest mostly with dyspnoea, chest pain, pain in the retrosternal region, hypotension, acute upper or lower respiratory tract infection symptoms and left arm paraesthesias. It is usually incidentally detected due to the presence of mediastinal shadow in X-ray.	Preferred (foundation metadata concept)
A rare primary vascular anomaly, characterised by saccular or rarely fusiform aneurysm of the inferior vena cava. Patients may present with chest pain, abdominal pain, back pain, lower extremity pain and oedema, fatigue and fainting. Deep venous thrombosis, penile haemorrhage, paradoxical cerebral embolism and pulmonary embolism can also be observed. It is usually incidentally detected during ultrasound or computed tomography scan examinations or in patients with thromboembolic disease.	Preferred (foundation metadata concept)
A rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, with characteristics of retinal atrophy and retinal detachment leading to loss of central vision, then peripheral vision, and eventually blindness.	Preferred (foundation metadata concept)
A rare progressive muscular dystrophy characterised by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalised hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.	Preferred (foundation metadata concept)
A rare pulmonary disease characterised by primary or non bacteraemic pneumonia most frequently arising in an intensive care setting, or bacteraemic pneumonia, which is typically associated with neutropenia. Chronic lower respiratory tract infection with development of episodes of pneumonia is common in patients with cystic fibrosis. Acute infections are potentially life-threatening. Patients present with fever, chills, dyspnoea, cyanosis, productive cough, as well as signs of severe systemic toxicity. Alveolar haemorrhage, necrosis, and, eventually, cavity formation, are commonly seen.	Preferred (foundation metadata concept)
A rare pulmonary neuroendocrine tumour, most often presenting in women over 50 years and non-smokers, characterised by long-lasting cough (>10 years), and less frequently by dyspnoea or wheezing. A proportion of patients are asymptomatic, the disease being an incidental finding during routine check-ups. Diffuse pulmonary nodules and mosaic attenuation can be detected by CT-scan however only histopathology can confirm the diagnosis detecting a multifocal hyperplasia of pulmonary neuroendocrine cells (carcinoid tumourlets). Ventilatory dysfunction can be obstructive and less often restrictive, mixed or non-specific. Symptoms can progress slowly but sometimes lead to respiratory failure. It is considered as a precursor for pulmonary carcinoid tumour.	Preferred (foundation metadata concept)
A rare punctate palmoplantar keratoderma characterised by multiple small, round to oval or rhomboid, yellowish, hyperkeratotic papules and plaques most commonly localised to the palms of the hands and soles of the feet, potentially extending to the dorsum of the hands and feet in severe cases. Histopathological analysis shows hyperkeratosis, epidermal hypertrophy, and fragmentation and rarefaction of elastic fibres. The condition can be sporadic or familial.	Preferred (foundation metadata concept)
A rare pure motor axonal form of Guillain-Barré syndrome (GBS).	Preferred (foundation metadata concept)
A rare pyruvate metabolism disorder characterised by neonatal onset of a mitochondrial encephalopathy with global developmental delay and the biochemical characteristics of lactic acidosis and increased serum pyruvate with normal lactate/pyruvate ratio. Additional reported manifestations include epilepsy, peripheral neuropathy, hypotonia, nystagmus, extensor plantar responses, hepatomegaly, and craniofacial dysmorphism (such as progressive microcephaly, epicanthus, long philtrum, and thin upper lip).	Preferred (foundation metadata concept)
A rare radiation-induced disorder characterised by impairment of the peripheral nervous system at the level of the brachial or lumbosacral plexus following radiation therapy. Onset of symptoms can occur between several months up to decades after the last dose of radiation. Patients with radiation-induced brachial plexopathy typically present with mostly unilateral progressive paraesthesia, followed by weakness, atrophy, and pain. Symptoms in radiation-induced lumbosacral plexopathy include more variable combinations of numbness, paraesthesia, pain, and weakness, and are more often bilateral.	Preferred (foundation metadata concept)
A rare radiation-induced disorder resulting from whole body exposure to large doses of penetrating radiation (>0.7 Gray) within a very short period of time (usually minutes) and characterised by bone marrow syndrome with pancytopenia (mild symptoms of which may occur already at 0.3 Gray), gastrointestinal syndrome resulting in mostly fatal infection, dehydration, and electrolyte imbalance (occurring at doses >10 Gray), and cardiovascular/central nervous system syndrome with watery diarrhoea, convulsions, coma, and death within three days of exposure (occurring at doses >50 Gray). The syndrome develops in four clinical stages (prodromal/latent/manifest illness/recovery or death) of variable duration.	Preferred (foundation metadata concept)
A rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) types I and II (RCM/RHM type 1; RCM/RHM type 2). In RCM type 1, cyanosis from birth is the only symptom. RCM type 2 is much more severe; the cyanosis is accompanied by neurological dysfunction (with intellectual deficit, microcephaly, growth retardation, opisthotonus, strabismus and hypertonia), which usually becomes evident during the first four months of life. RCM type 1 is caused by mutations of the CYB5R3 gene (22q13.31-qter) encoding the NADH-cytochrome b5 reductase (Cb5R) and Cb5R deficiency is limited to the erythrocytes. RCM type 2 is caused by global loss of Cb5R function. RCM type 1 is generally associated with missense mutations, whereas RCM type 2 is more commonly associated with truncating mutations, splicing errors or mutations that lead to disruption of the active site.	Preferred (foundation metadata concept)
A rare renal disease characterised by glomerular nephropathy with haematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies.	Preferred (foundation metadata concept)
A rare renal disease characterised by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy.	Preferred (foundation metadata concept)
A rare renal disease characterised by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnoea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females.	Preferred (foundation metadata concept)
A rare renal disease characterised by thrombotic microangiopathy developing de novo in kidney transplant recipients with no evidence of occurrence of the disease prior to transplantation. Precipitating factors include antibody-mediated rejection, immunosuppressive medication, viral infections, and genetic abnormalities in the complement cascade, among others. The condition most commonly occurs within the first 3-6 months post-transplantation. Clinical presentation is highly variable and ranges from a limited form confined to the kidney with relatively good prognosis to a systemic variant consisting of the classic triad of thrombocytopenia, microangiopathic haemolytic anaemia, and acute kidney injury.	Preferred (foundation metadata concept)
A rare renal disease occurring in the setting of a systemic IgG4 related disease (IgG4-RD). The disorder is characterised by a fibrosing tubulointerstitial nephritis consisting of predominantly IgG4+ plasma cells with/without glomerulonephritis, retroperitoneal fibrosis and hydronephrosis.	Preferred (foundation metadata concept)
A rare renal tubular disease characterised by hypomagnesaemia due to renal magnesium wasting, recurrent generalised seizures, mild to moderate intellectual disability, speech delay and obesity due to CNNM2 mutations. Most patients also manifest motor skill defects and hyperkinesia. Majority of the affected individuals do not exhibit brain anomalies.	Preferred (foundation metadata concept)
A rare renal tubulopathy secondary to urinary tract infection (UTI) and/or urinary tract malformation (UTM) characterised by renal tubular resistance to aldosterone, characterised by hyponatraemia, metabolic acidosis, hyperkalaemia and inappropriately high serum aldosterone concentration and clinically manifesting as dehydration, vomiting, and poor oral intake.	Preferred (foundation metadata concept)
A rare renal tumour characterised by a benign epithelial (metanephric adenoma), biphasic (metanephric adenofibroma) or renal stromal (metanephric stromal tumour) neoplasm. Metanephric adenoma mostly occurs in the fifth to sixth decade of life with distinct female predominance. It may be asymptomatic or present with abdominal pain, haematuria, and/or polycythaemia. Metanephric adenofibroma has been described from infancy to young adulthood, potentially causing polycythaemia or haematuria. Metanephric stromal tumour typically presents in infancy or childhood as an abdominal mass, sometimes manifestations of extrarenal vasculopathy such as hypertension or haemorrhage.	Preferred (foundation metadata concept)
A rare respiratory disorder characterised by major reduction of diaphragmatic contractile force together with fibre atrophy in the diaphragm and other respiratory muscles as a consequence of invasive mechanical ventilation. Reduction of diaphragmatic contractile force may be observed even within hours after intubation. The condition can increase weaning time and affects weaning outcome, mortality, and long-term clinical outcomes.	Preferred (foundation metadata concept)
A rare retinal dystrophy, characterised by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).	Preferred (foundation metadata concept)
A rare retinal vasculopathy disease characterised by idiopathic retinal vasculitis (IRV), aneurysmal dilations (A) at arteriolar bifurcations, and neuroretinitis (N), which if untreated progresses to peripheral capillary non-perfusion, retinal neovascularisation, and macular exudation, leading to severe, bilateral vision loss.	Preferred (foundation metadata concept)
A rare rodent-borne, potentially severe, haemorrhagic disease caused by Old World Hantaviruses characterised by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic haemorrhagic manifestations.	Preferred (foundation metadata concept)
A rare scleritis characterised by severe ocular inflammation of sclera associated with an underlying systemic inflammatory condition, most often rheumatoid arthritis, granulomatosis with polyangiitis, but also seronegative spondyloarthropathies, vasculitides and systemic lupus erythematosus. Ocular presentation is a tender or painful, violet-blueish eye, with injection of deep scleral vessels. It can be unilateral or bilateral. Immune-mediated scleritis is more often granulomatous and/or necrotising. Systemic clinical signs depend on the underlying disease.	Preferred (foundation metadata concept)
A rare sclerosing bone disorder characterised by skeletal densification that predominantly involves the cranial vault.	Preferred (foundation metadata concept)
A rare secondary neonatal autoimmune disease characterised by generalised weakness, severe hypotonia, absent or reduced deep tendon reflexes, and highly elevated serum creatine kinase levels presenting in the neonatal period. Perifascicular atrophy in the presence of a diffuse perivascular inflammatory cell exudate is observed on muscle biopsy.	Preferred (foundation metadata concept)
A rare secondary neonatal autoimmune disease characterised by neonatal onset of erythematous skin lesions with a linear appearance that gradually become indurated and hyperpigmented and progressively present skin atrophy. Positive serum antibodies (in particular antinuclear antibodies and/or rheumatoid factor) may be associated.	Preferred (foundation metadata concept)
A rare severe combined immunodeficiency characterised by T-cell lymphopenia and absent T-cell proliferative responses, and normal B-cell and natural killer cell counts. Patients present in the first months of life with severe recurrent infections, failure to thrive, haematologic autoimmune disorders, and/or lymphoproliferation with splenomegaly.	Preferred (foundation metadata concept)
A rare severe neurodegenerative disorder that is considered one of the phenocopies of Huntington Disease (HD) affecting patients of African descent and characterised by a triad of movement (chorea, oculomotor, parkinsonism), psychiatric (prominently sadness, irritability and anxiety), and cognitive abnormalities (early cognitive decline and subcortical-like dementia).	Preferred (foundation metadata concept)
A rare sex-chromosome anomaly characterised by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinisation.	Preferred (foundation metadata concept)
A rare sex-chromosome anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features, and a male phenotype with infertility due to azoospermia.	Preferred (foundation metadata concept)
A rare skeletal disorder characterised clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999.	Preferred (foundation metadata concept)
A rare skeletal dysplasia characterised by disproportionate short stature with short limbs, small hands and feet, and midface hypoplasia with small nose. Mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone shaped phalangeal epiphyses are characteristic features. In adulthood, premature spondylosis and degenerative joint disease develop in some patients. Frequent respiratory infections with prolonged cough and inspiratory stridor, consistent with laryngomalacia, can also be present. Intelligence, dentition, hearing and visual acuity are not affected.	Preferred (foundation metadata concept)
A rare skeletal dysplasia characterised by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones).	Preferred (foundation metadata concept)
A rare skeletal dysplasia characterised by peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible in individuals with a male karyotype.	Preferred (foundation metadata concept)
A rare skeletal dysplasia characterised by short limbs dysmorphic facies and diagnostic radiographic findings.	Preferred (foundation metadata concept)
A rare skeletal dysplasia, characterised clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.	Preferred (foundation metadata concept)
A rare skin disease belonging to the spectrum of autoinflammatory syndromes characterised by the triad of pyoderma gangrenosum (PG), suppurative hidradenitis (SH) and acne.	Preferred (foundation metadata concept)
A rare skin disease characterised by a hamartomatous epidermal lesion presenting as a linear array of verrucous, hyperkeratotic papules that often coalesce into plaques and are formed along the lines of Blaschko. The condition is associated with involvement of other organ systems, mainly brain, eye, and skeletal system. It is the result of mosaic post-zygotic mutations and most commonly presents at birth, but may occur anytime during childhood, rarely also in adulthood.	Preferred (foundation metadata concept)
A rare skin disease characterised by non-infectious eosinophilic infiltration of the hair follicles. Patients present with chronically recurrent crops of itchy follicular papulo pustules with peripheral extension and central clearing. Small papules tend to enlarge and coalesce into large plaques. The lesions favour the face and trunk, although the extremities can also be involved. Laboratory analysis may show peripheral leucocytosis and eosinophilia, while, clinically, systemic involvement is not evident.	Preferred (foundation metadata concept)
A rare skin disease characterised by transient wrinkling of the skin, oedema, formation of whitish papules, pruritus, burning sensation, or pain, on the palms and/or soles in response to contact with water. Duration of exposure and water temperature affect the rate of development and intensity of the lesions. The condition is more common in females than in males and frequently occurs in patients with cystic fibrosis.	Preferred (foundation metadata concept)
A rare skin disorder characterised by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhoea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992.	Preferred (foundation metadata concept)
A rare skin disorder characterised by the co-occurrence of sebaceous naevi with aplasia cutis congenita located directly adjacent or in close proximity and ocular abnormalities including limbal dermoids and coloboma of the conjunctiva.	Preferred (foundation metadata concept)
A rare skin hamartoma characterised by at least one pigmented skin lesion present at birth of more than 20 cm (large congenital melanocytic naevus; LCMN) or 40 cm (giant; GCMN) projected adult diameter. The primary lesion is composed of mutated melanocytes and often locally disorganised epidermal annexes or dermis, and presents with an elevated risk of malignant transformation to melanoma or, more rarely, other neoplasms in skin or central nervous system.	Preferred (foundation metadata concept)
A rare slowly progressive autosomal recessive syndromic cerebellar ataxia characterised by late-onset cerebellar dysfunction (including gait and limb ataxia, nystagmus, and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex), and axonal sensory neuropathy. Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy.	Preferred (foundation metadata concept)
A rare soft tissue tumour characterised by a benign subcutaneous lesion composed of oval-to-spindle shaped myoid appearing cells with a tendency for concentric perivascular growth. The tumour usually presents as a painless, slowly growing nodule, which may be solitary or appear as multiple lesions, which then arise metachronously and usually involve a particular anatomic region. Recurrence after surgical excision may occur in poorly circumscribed tumours. Malignancy is very rare.	Preferred (foundation metadata concept)
A rare soft tissue tumour characterised by a compressive mass located in the mediastinum and/or pleura and lung, including prominent lymph node involvement, histologically poorly differentiated and frequently showing rhabdoid features. Loss of SMARCA4 is typically accompanied by SMARCA2-deficiency. Presenting symptoms include dyspnoea, cough, chest pain, or dysphagia, among others. The tumours are aggressive with limited response to chemotherapies, rapid local progression, high recurrence rate after surgical resection, and short median survival times. There is a strong association with smoking.	Preferred (foundation metadata concept)
A rare solid tumour like condition seen in young women, characterised by an accumulation of fluid within the ovarian stroma separating normal follicular structures.	Preferred (foundation metadata concept)
A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).	Preferred (foundation metadata concept)
A rare spondylodysplastic dysplasia characterised by severe, neonatal skeletal manifestations (including narrow thorax, rhizomelic shortening of the limbs with cupped anterior ends, mild to severe platyspondyly, lacy iliac crests, delayed ossification of the caudal ilia, ragged/cupped metaphyses of the long bones and hypoplastic pubic rami), severe respiratory failure (patients could require lifelong ventilation support), severe short stature and developmental delay. Additional clinical features may include atrial septal defect, seizures, pulmonary hypoplasia, gallbladder hypoplasia and hepatic fibrosis. Neutropenia and decreased serum amylase can be present.	Preferred (foundation metadata concept)
A rare spondylodysplastic syndrome characterised by camptodactyly, cervical platyspondyly, and variable degrees of thoracic scoliosis. There have been no further descriptions in the literature since 1995.	Preferred (foundation metadata concept)
A rare spondyloepimetaphyseal dysplasia characterised by severe short-limb short stature beginning prenatally, joint hypermobility, dental abnormalities, dysmorphic facial features (including hypertelorism, midface hypoplasia, macroglossia, and prognathism), and other skeletal anomalies (such as atlantoaxial subluxation causing compression of the spinal cord, kyphoscoliosis, hip dislocation, or rocker-bottom feet). Mild intellectual disability may also be present.	Preferred (foundation metadata concept)
A rare spondyloepiphyseal dysplasia characterised by progressive joint contractures with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Patients are of normal height and present with gait problems, joint pain, and enlarged joints with joint restriction and contractures. Radiological features include generalised platyspondyly, hypoplastic ilia, epiphyseal flattening with metaphyseal splaying of the tubular bones, and broad, elongated femoral necks with marked coxa valga. Histopathologic examination of cartilage shows PAS-positive cytoplasmic inclusion bodies in chondrocytes.	Preferred (foundation metadata concept)
A rare sporadic arthrogryposis syndrome with characteristics of multiple congenital contractures presenting in a very specific pattern. It is typically symmetric, involving all four limbs, with internally rotated shoulders, fully extended and fixed elbows, the wrists fixed in flexion, partially flexed fingers, hips fixed in flexion or extension, adducted or abducted and sometimes dislocated. The knees may be fixed in extension or flexion and the feet are usually in severe equinovarus position. The jaw and trunk are relatively spared. Normal limb muscle tissue is replaced by fatty, fibrous tissue.	Preferred (foundation metadata concept)
A rare sterol biosynthesis disorder characterised by microcephaly, bilateral congenital cataract, mild developmental delay, growth delay with short stature, psoriasiform dermatitis of variable severity, and immune dysregulation. Behavioural disorder, joint contractures, and arthralgia have also been described.	Preferred (foundation metadata concept)
A rare sterol metabolism disorder characterised by increased LDL cholesterol serum levels (which are resistant to treatment with 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors), hypertriglyceridaemia, and decreased rate of bile acid excretion, resulting from cholesterol 7alpha-hydroxylase deficiency. Premature gallstone disease and/or premature coronary and peripheral vascular disease are frequently associated.	Preferred (foundation metadata concept)
A rare subcutaneous tissue disease characterised by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck, with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).	Preferred (foundation metadata concept)
A rare subtype of CMT1 characterised by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients.	Preferred (foundation metadata concept)
A rare subtype of Joubert syndrome (JS) and related disorders (JSRD) characterised by the neurological features of JS associated with both renal and ocular disease.	Preferred (foundation metadata concept)
A rare subtype of acute myeloid leukaemia with recurrent genetic abnormalities characterised by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anaemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported.	Preferred (foundation metadata concept)
A rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterised by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment.	Preferred (foundation metadata concept)
A rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterised by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).	Preferred (foundation metadata concept)
A rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease characterised by debilitating neuropathic pain associated with mild, distal, symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting, or throbbing pain and intermittent paraesthesia in toes, heels and ankles.	Preferred (foundation metadata concept)
A rare subtype of autosomal dominant limb girdle muscular dystrophy characterised by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.	Preferred (foundation metadata concept)
A rare subtype of autosomal dominant limb-girdle muscular dystrophy, with a variable age of onset, characterised by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed.	Preferred (foundation metadata concept)
A rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterised by a CMT neuropathy associated with developmental delay, self-abusive behaviour, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.	Preferred (foundation metadata concept)
A rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterised by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy.	Preferred (foundation metadata concept)
A rare subtype of autosomal recessive limb-girdle muscular dystrophy characterised by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibres.	Preferred (foundation metadata concept)
A rare subtype of autosomal recessive limb-girdle muscular dystrophy disorder characterised by infantile to childhood-onset of slowly progressive, principally proximal, shoulder and/or pelvic-girdle muscular weakness that typically presents with positive Gowers' sign and is associated with elevated creatine kinase levels, hyporeflexia, joint and achilles tendon contractures, and muscle hypertrophy, usually of the thighs, calves and/or tongue. Other highly variable features include cerebellar, cardiac and ocular abnormalities.	Preferred (foundation metadata concept)
A rare subtype of axonal hereditary motor and sensory neuropathy characterised by distal muscle weakness and atrophy (principally of peroneal muscles) associated with distal sensory loss (tactile, vibration), pes cavus present since infancy or childhood, and axonal swelling with neurofilament accumulation on nerve biopsy. Other features may include hand muscle involvement, hypo/areflexia, gait disturbances, muscle cramps, toe abnormalities and mild cardiomyopathy.	Preferred (foundation metadata concept)
A rare subtype of axonal hereditary motor and sensory neuropathy characterised by progressive distal muscle weakness and atrophy of both the lower and upper limbs, absent or reduced deep tendon reflexes, mild sensory loss, foot drop, and pes cavus leading eventually to wheelchair dependance. Some patients present with early hypotonia and delayed motor development. Scoliosis and variable autonomic disturbances may be associated.	Preferred (foundation metadata concept)
A rare subtype of haemochromatosis characterised by the combination of pathogenic variants in two genes involved in iron metabolism (usually a combination of HFE and non-HFE mutations), where the classical HFE-related haemochromatosis is not enough to fully explain the clinical picture of the patient.	Preferred (foundation metadata concept)
A rare subtype of indolent systemic mastocytosis characterised by isolated bone marrow involvement without skin lesions, low burden of neoplastic mast cells, and often normal or near normal serum tryptase levels. The KIT D816V mutation is present in the majority of cases.	Preferred (foundation metadata concept)
A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterised by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalised joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis.	Preferred (foundation metadata concept)
A rare subtype of renal cell carcinoma, occurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterised by a usually well circumscribed, solid, multifocal, bilateral tumour with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumours are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behaviour.	Preferred (foundation metadata concept)
A rare subtype of split cord malformation characterised by each hemicord contained in its own dural sac, typically with an intervening bony septum.	Preferred (foundation metadata concept)
A rare superficial pemphigus disease characterised by severe intractable pruritus with erythematous or urticarial plaques and sometimes vesicles organised in a herpetiform pattern. Mucosae are generally spared. Eosinophilia in peripheral blood and low titres of circulating autoantibodies are observed in many cases. Histology can show an aspect of either pemphigus (superficial or deep), or an intraepidermal infiltrate rich in eosinophils (eosinophilic spongiosis).	Preferred (foundation metadata concept)
A rare syndrome characterised by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations.	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)