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 quality of care determination performed retrospectively	Preferred (foundation metadata concept)
A radiographic technique used for showing true dimensions by moving a narrow orthogonal beam of x-rays along the length of the structure being measured.	Preferred (foundation metadata concept)
A raised, erythematous papule or cutaneous plaque, usually representing short-lived dermal edema	Preferred (foundation metadata concept)
A rare Huntington disease-like syndrome with characteristics of childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy.	Preferred (foundation metadata concept)
A rare PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) related overgrowth syndrome disease with characteristics of 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 patten. Congenital overgrowth is typically associated.	Preferred (foundation metadata concept)
A rare X-linked cerebellar ataxia with characteristics of 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 genetic epilepsy syndrome affecting females. The syndrome has characteristics of seizures starting in the first years of life and intellectual disability and may resemble Dravet syndrome. In families with this disease, male carriers are unaffected despite the X-linked inheritance.	Preferred (foundation metadata concept)
A rare X-linked inherited type of ocular albinism described in one African kindred (7 males over 3 generations) to date with characteristics of severe visual impairment, translucent pale-blue irides, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism or a contiguous gene syndrome.	Preferred (foundation metadata concept)
A rare X-linked intellectual disability syndrome characterised by intellectual disability (with severe speech impairment), a myxoedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures. Caused by mutation in the UBE2A gene on chromosome Xq24.	Preferred (foundation metadata concept)
A rare X-linked intellectual disability syndrome characterised by onset in infancy of delayed motor and speech milestones, generalised tonic-clonic seizures and drop attacks and mild to moderate intellectual disability. Additional less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance) and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.	Preferred (foundation metadata concept)
A rare X-linked intellectual disability syndrome with characteristics of intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982.	Preferred (foundation metadata concept)
A rare X-linked mental retardation syndrome with characteristics of psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies. Prevalence is unknown, but the syndrome was originally described in a large Scottish family. Mutations in the AP1S2 gene (Xp22), coding for a subunit of the clathrin-associated adaptor protein complex involved in intracellular protein trafficking and synaptic vesicle recycling, have been identified in seven families.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability disease with characteristics of neonatal hypertonia which evolves to hypotonia and an exaggerated startle response (to sudden visual, auditory or tactile stimuli), followed by the development of early-onset, frequently refractory, tonic or myoclonic seizures. Progressive epileptic encephalopathy, intellectual disability, and psychomotor development arrest, with subsequent decline, may be additionally associated. There is the disease is caused by mutation in the ARHGEF9 gene on chromosome Xq22.1.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability disorder with characteristics of profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with over folded helix) and large testes. There is evidence the disease is caused by mutation in the CLIC2 gene on chromosome Xq28.	Preferred (foundation metadata concept)
A rare X-linked syndromic intellectual disability with characteristics of intellectual disability of variable degree, behavioural anomalies (including autism, mood disorders, obsessive-compulsive behaviour, hetero and autoaggression) and epilepsy. Progressive neurological symptoms like movement disorders and spasticity along with subtle dysmorphic features have also been reported. Heterozygous females may be as severely affected as males.	Preferred (foundation metadata concept)
A rare Y chromosome number anomaly that affects only males. The disease has characteristics of mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males.	Preferred (foundation metadata concept)
A rare Y chromosome number anomaly with a variable phenotype. The main characteristics of this disorder are 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) 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 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 dermal elastic tissue disorder characterised by multiple, 2-3 millimetre sized, non-confluent, asymptomatic, white or pale-coloured, non-follicular, firm papular lesions occurring predominantly on the lateral or posterior aspects of the neck. Other, rarely reported sites include inferior axillae, central mid-back and upper sternal region.	Preferred (foundation metadata concept)
A rare acquired dermis elastic tissue disorder characterised by asymptomatic palpable hypertrophic or atrophic, yellowish or red, indurated, horizontal, striae-like linear plaques distributed symmetrically across the mid and lower back. No systemic involvement has been described. Skin biopsy reveals a focal increase in abnormal elastic tissue with abundant wavy, fragmented and aggregated basophilic elastic fibres in the reticular dermis.	Preferred (foundation metadata concept)
A rare acquired dermis elastic tissue disorder with characteristics of a pseudoxanthoma elasticum-like papular eruption consisting of multiple, slowly progressive, asymptomatic, 2-5 mm, white to yellowish, non-follicular papules (that tend to form cobblestone plaques) predominantly distributed over the neck, axillae and flexural areas, with no systemic involvement. Skin biopsy reveals a focal increase of normal-appearing elastic tissue in the reticular dermis with no calcium deposits.	Preferred (foundation metadata concept)
A rare acquired disorder with characteristics of unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved. Usually presents during the first 20 years of life and may start with alopecia, hair hypopigmentation, and atrophy. May extend to the upper lip and or one side of the tongue and the masticatory muscles, resulting in deviation of the nose and or mouth toward the affected side. Rarely both sides of the face and the skin on the arms/trunk/leg or the entire body may be involved. Autoimmunity may be a cause along with facial or head trauma, meningoencephalitis, abnormal development or hyperactivity of the sympathetic nervous system, neuro-vasculitis, angiogenesis anomalies, and slow viral infections. Sporadic but rare familial cases have been reported.	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 eye disease with characteristics of progressive visual loss due to bilateral juxta foveolar capillary occlusions, capillary telangiectasia and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease.	Preferred (foundation metadata concept)
A rare acquired eye disease with characteristics of unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular oedema with hard exudates.	Preferred (foundation metadata concept)
A rare acquired eye disease with characteristics of unilateral or bilateral abnormal fluid accumulation within the suprachoroidal space. This results in internal choroidal elevation in the absence of any known cause such as decreased intraocular tension, intraocular neoplasm, intraocular inflammation or nanophthalmos. Patients typically present a protracted, relapsing-remitting course of visual acuity loss and fundus examination shows annular celio-choroidal detachment and shifting, serous retinal detachment.	Preferred (foundation metadata concept)
A rare acquired idiopathic dermal tissue disorder characterised by numerous asymptomatic 2-3 millimetre yellowish, non-follicular papules that tend to converge into cobblestone-like plaques. The plaques are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike pseudoxanthoma elasticum, these skin lesions show select elimination (absence or marked loss) of elastic fibres in the papillary dermis and there is no systemic involvement.	Preferred (foundation metadata concept)
A rare acquired immunodeficiency disease with characteristics of adult-onset absolute neutrophil counts less than 1.5 x 10^9/L on at least 3 occasions in a 3 month period that cannot be attributable to drugs or a specific genetic, infectious, inflammatory, autoimmune or malignant cause. Recurrent apthous stomatitis and a history of mild bacterial infections are typically associated. A benign outcome with a low rate of severe infections and no secondary malignancies is observed.	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 localised lipodystrophy disorder characterised by the eruption of tender occasionally painful, erythematous nodules and plaques, which enlarge radially and resolve into lipoatrophic lesions, often located in the upper and lower limbs. Histologically lesions are characterised by lipophagic lobular panniculitis and absence of vasculitis.	Preferred (foundation metadata concept)
A rare acquired motor neuron disease with characteristics of a slowly progressive unilateral ascending or descending hemiplegia, associated with unilateral or asymmetrical pyramidal signs and no sensory loss. It is a diagnosis of exclusion and controversy exists regarding whether the presence of bulbar symptoms, sphincter disturbances, fasciculations or cognitive manifestations are characteristics of the disease.	Preferred (foundation metadata concept)
A rare acquired neurological disease with characteristics of encephalopathy associated with elevated antithyroid antibodies, in the absence of other causes. Clinical presentation varies from minor cognitive impairment to status epilepticus and coma, and frequently includes seizures, confusion, speech disorder, memory impairment, ataxia and psychiatric manifestations.	Preferred (foundation metadata concept)
A rare acquired neuromuscular disease characterised by CAV3 mutation-negative rippling muscle disease in association with acetylcholine receptor antibody-mediated myasthenia gravis. Patients typically present exercise-induced, electrically silent muscle rippling with myalgia, in combination with generalised myasthenia gravis symptoms (ptosis, diplopia, neck weakness, dysphagia and dyspnoea).	Preferred (foundation metadata concept)
A rare acquired non-paraneoplastic limbic encephalitis disorder, that develops in the setting of treatment-related immunosuppression, typically after allogeneic haemapoietic stem cell transplantation. Characterised by onset of confusion, headache, anterograde amnesia, seizures and/or loss of consciousness 2-6 weeks following transplantation. Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. Mild cerebrospinal fluid pleocytosis and syndrome of inappropriate antidiuretic hormone secretion may also be associated.	Preferred (foundation metadata concept)
A rare acquired ocular disease with characteristics of migratory or non-migratory horizontal linear stromal infiltrates that may heal spontaneously. Minimal vascularisation and scarring may be observed but vision loss is not associated.	Preferred (foundation metadata concept)
A rare acquired peripheral neuropathy disease with characteristics of progressive oropharyngeal (facial palsy, dysarthria) and cervicobrachial weakness, associated with upper limb weakness and hypo/areflexia in the absence of ophthalmoplegia, ataxia, altered consciousness, and prominent lower limb weakness. The presence of monospecific IgG anti-GT1a antibodies is associated.	Preferred (foundation metadata concept)
A rare acquired peripheral neuropathy with characteristics of symptoms arising from combined overactivity in cranial nerves, without any explanatory structural lesion. The symptoms may be unilateral or bilateral, may occur synchronously or metachronously and include trigeminal neuralgia, hemifacial spasm and glossopharyngeal neuralgia.	Preferred (foundation metadata concept)
A rare acquired pituitary hormone deficiency a type of primary hypophysitis with characteristics of inflammation of anterior pituitary. Clinical presentation is variable and includes headaches, visual disturbances, and symptoms of adrenal insufficiency, hyperprolactinaemia, hypothyroidism and hypogonadism. It most commonly affects young women during pregnancy or postpartum period.	Preferred (foundation metadata concept)
A rare acquired pituitary hormone deficiency a type of primary hypophysitis with characteristics of inflammation of the entire pituitary gland. Common clinical presentation is diabetes insipidus with polyuria and polydipsia and partial or panhypopituitarism. Other symptoms may include headaches, nausea/vomiting, visual disturbances and fatigue.	Preferred (foundation metadata concept)
A rare acquired pituitary hormone deficiency characterised by combination of headache, visual field defects that correlate with cyst size and pituitary dysfunction. Most frequent hormonal manifestations are hypogonadism with amenorrhoea/impotence or low libido and galactorrhoea.	Preferred (foundation metadata concept)
A rare acquired pituitary hormone deficiency characterised by the presence of rare benign tumour in the sellar region. Clinical presentation is either acute or insidious and is variable according to the cyst location, size and potential rupture. Most commonly patients present with headache, visual disturbances and pituitary dysfunction.	Preferred (foundation metadata concept)
A rare acquired pituitary hormone deficiency with characteristics of secondary adrenal insufficiency with normal secretion of anterior pituitary hormones, except for adrenocorticotropic hormone (ACTH). Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycaemia and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described.	Preferred (foundation metadata concept)
A rare acquired pituitary hormone deficiency, a type of primary hypophysitis characterised by an inflammation of the posterior pituitary and the stalk. The major clinical manifestation is diabetes insipidus with polyuria and polydipsia. Less frequent symptoms are headaches, adrenal insufficiency, hyperprolactinaemia and hypogonadism.	Preferred (foundation metadata concept)
A rare acquired retinal disorder with characteristics of unilateral acute onset rapidly progressive visual field loss. Sometimes patients have photopsia and complain of floaters. Typical ophthalmoscopic finding is a unilateral, yellowish-white annular intraretinal line, splitting the retinal field to affected outer retina with thinning and normal retina. Gradual spontaneous visual recovery has been observed.	Preferred (foundation metadata concept)
A rare aggressive B-cell non-Hodgkin lymphoma with characteristics of 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 aggressive malignant epithelial carcinoma of the oesophagus characterised, macroscopically, by an exophytic mass with central ulceration located on the oesophagus and histologically by a sheet-like growth of neoplastic cells without significant glandular, squamous or neuroendocrine differentiation. Patients may present with progressive dysphagia, long-standing history of gastrooesophageal reflux, weight loss, anaemia, abdominal or chest pain/pressure, dyspnoea, and/or haematemesis. Presence or history of Barrett oesophagus is frequently associated.	Preferred (foundation metadata concept)
A rare aggressive neoplastic disease with the presence of a melanocyte neoplasm that develops in any mucosal membrane. Clinical manifestations vary depending on the site of occurrence.	Preferred (foundation metadata concept)
A rare aggressive primary cervical neoplasm originating from neuroendocrine cells present in the lining epithelium of the cervix. Macroscopic characteristics are usually large lesions sometimes with a barrel-shaped appearance. Patients often present with abnormal vaginal bleeding or discharge, pelvic/abdominal pain, post-coital spotting and/or dysuria, while symptoms related to carcinoid syndrome are not frequent.	Preferred (foundation metadata concept)
A rare aggressive subtype of invasive breast carcinoma characterised by rapid growth, relatively large tumour size and a tendency to metastasize to distant organs, particularly the lungs, with relatively less frequent involvement of the axillary lymph nodes. Histologically, the tumour shows high-grade cellularity and heterologous differentiation, including chondroid, osseous, pleomorphic/sarcomatoid, spindled, and squamous elements. Patients usually present with a fast-growing, large, well-circumscribed, mobile lump in the breast, which can become painful and involve the chest wall and the skin, leading to ulceration.	Preferred (foundation metadata concept)
A rare aggressive subtype of renal cell carcinoma characterised by a large, white or tan, firm, infiltrative tumour with microabscess-like foci centred in the renal medulla, typically presenting with haematuria, abdominal/flank pain, weight loss and fever. It is associated with sickle cell trait and disease and metastasis to the bones and lungs is common at time of diagnosis.	Preferred (foundation metadata concept)
A rare and aggressive glial neoplasm of the central nervous system that usually presents with seizures in adults. The neoplasm is most often located in the cerebral hemispheres and is associated with a very poor prognosis.	Preferred (foundation metadata concept)
A rare and benign but locally aggressive fibrovascular tumour arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures.	Preferred (foundation metadata concept)
A rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, with features of bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints. Manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short stature and brachydactyly has been reported in a few patients with the disorder.	Preferred (foundation metadata concept)
A rare and highly aggressive malignant type of choroid plexus neoplasm occurring almost exclusively in children. The disease presents with cerebrospinal fluid obstruction in the lateral ventricles (most common), the fourth and third ventricles or in multiple ventricles, leading to hydrocephalus and increased intracranial pressure, and manifesting with nausea, vomiting, abnormal eye movements, gait impairment, seizures and enlarged head circumference.	Preferred (foundation metadata concept)
A rare and isolated orofacial defect with manifestation of incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family.	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 disorder of urea cycle metabolism most commonly characterised by either a neonatal-onset of severe hyperammonaemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonaemia. The disease is due to mutations in the CPS1 gene (2p) that encodes carbamoyl-phosphate synthetase I (CPS1), an enzyme located in the mitochondrial matrix of hepatocytes and epithelial cells of intestinal mucosa that controls the first step of the urea cycle where ammonia is converted into carbamoyl-phosphate. Mutations in this gene lead to an interruption in the urea cycle and excess nitrogen is not converted to urea for excretion by the kidneys, leading to hyperammonemia. Inherited in an autosomal recessive manner.	Preferred (foundation metadata concept)
A rare anomaly of puberty or/and menstrual cycle with characteristics of recurrent fevers (higher than 38 degrees Celsius) associated with the luteal phase of the menstrual cycle in women.	Preferred (foundation metadata concept)
A rare anomaly with characteristics of fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of the anterior clavicular contour. It has been described only once in several members of a single family from Canada. The abnormality resulted in a strong pectoral girdle with lack of mobility. Movements requiring rotation or retraction of the scapula were limited, but this does not normally interfere with daily activities.	Preferred (foundation metadata concept)
A rare anomaly with characteristics of progressive, asymmetrical, non-neoplastic overgrowth of a mandibular condyle. It is unilateral in most cases and leads to progressive facial asymmetry, mandibular deviation, articular dysfunction and dental malocclusion.	Preferred (foundation metadata concept)
A rare association of malformations described in only three patients including two siblings. The first patient had profound intellectual deficit and clinical features including short stature, coarse face, deep-set eyes, microphthalmia, large ears, gynoid obesity, imperforate anus, sacral spina bifida, pseudovaginal perineoscrotal hypospadias, persistence of Mullerian structures, and low gonadotrophin levels. His XY sibling was raised as a girl, was slightly mentally impaired and had microphthalmia and large ears and short stature. The third patient had severe hearing loss, ocular colobomata, hypogonadism of central origin, distinct craniofacial features and skeletal anomalies with cervical spina bifida, hyperkyphosis and thoracic deformity. All patients had a normal 46, XY karyotype. Inheritance could be either autosomal recessive or X-linked.	Preferred (foundation metadata concept)
A rare association syndrome, reported in several members of two families to date with characteristics of arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved, in association with cystic medial necrosis and multiple lentigines.	Preferred (foundation metadata concept)
A rare auto inflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare life-threatening complication.	Preferred (foundation metadata concept)
A rare autoinflammatory syndrome with characteristics of 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. There is evidence the disease is caused by heterozygous mutation in the NLRP12 gene on chromosome 19q13.	Preferred (foundation metadata concept)
A rare autosomal anomaly due to the presence of an extra copy of chromosome 4 in a fraction of all cells with a variable phenotype. Typical characteristics are intrauterine growth retardation, low birth weight/length/head circumference, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posterior rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated.	Preferred (foundation metadata concept)
A rare autosomal anomaly syndrome with a highly variable phenotype and typical characteristics of short length, joint abnormalities (for example 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 autoinflammatory syndrome characterised by early onset systemic inflammation with autoimmune manifestations and more rarely, humoral immune deficiency and increased production of circulating proinflammatory cytokines. Variable manifestations include recurrent oral aphthous ulcers, genital ulcers, arthralgia or arthritis, periodic fever, uveitis and severe gastrointestinal involvement (pain, diarrhoea, vomiting, rectal bleeding).	Preferred (foundation metadata concept)
A rare autosomal dominant condition characterised by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphoedema of the lower limbs and mild to moderate intellectual disability. The exact prevalence is not known but the disorder is thought to be rare. The microcephaly is primary, and the severity is variable even within families. Mild to moderate learning difficulties are common. A characteristic facial phenotype including up slanting palpebral fissures, broad nose with rounded tip, anteverted nares, long philtrum with thin upper lip, and prominent chin and ears is well recognised. There is likely to be genetic heterogeneity. However, a significant proportion of cases are caused by mutations in the kinesin family member 11 (KIF11) gene (10q24.1). Inheritance is autosomal dominant with variable expression and reduced penetrance.	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 with features of aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying manifestations from 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 form of heart-hand syndrome, first described in members of a Slovenian family. The syndrome has characteristics of adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.	Preferred (foundation metadata concept)
A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterised by early onset of generalised hypotonia and weakness, or later onset of distal lower limb muscle weakness and atrophy, cramps and sensory impairment. Weakness and atrophy progress in an asymmetric fashion to also involve the proximal and upper limbs in the course of the disease. Additional features are pyramidal signs like increased muscle tone and extensor plantar reflexes as well as learning difficulties.	Preferred (foundation metadata concept)
A rare autosomal dominant hereditary axonal motor and sensory neuropathy with characteristics of adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and hyporeflexia beginning in the lower limbs. Progressive gait disturbance may lead to loss of independent ambulation in some patients at a higher age.	Preferred (foundation metadata concept)
A rare autosomal dominant hereditary axonal motor and sensory neuropathy with characteristics of childhood onset of slowly progressive distal muscle weakness and atrophy primarily affecting the lower limbs, associated with sensory impairment and ataxia presenting with an unsteady, broad-based gait and frequent falls. Additional signs include decreased deep tendon reflexes and hand tremor.	Preferred (foundation metadata concept)
A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy with characteristics of progressive distal muscle weakness and atrophy, distal sensory impairment and decreased or absent reflexes in the affected limbs with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibres, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs.	Preferred (foundation metadata concept)
A rare autosomal dominant inherited chorioretinal degenerative disease presenting at birth or during infancy. The disease has characteristics of progressive bilateral retinal and choroidal atrophy which appears as lesions on the optic nerve and peripheral ocular fundus and leads to loss of central vision. Congenital anterior polar cataracts are sometimes associated with this disease. There is evidence this disease is caused by heterozygous mutation in the TEA domain family member-1 gene (TEAD1) on chromosome 11p15.	Preferred (foundation metadata concept)
A rare autosomal dominant neurological disorder with characteristics of early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity and abnormal eye movements.	Preferred (foundation metadata concept)
A rare autosomal dominantly inherited disease of childhood characterised by hypoproliferative anaemia, hyperuricaemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system.	Preferred (foundation metadata concept)
A rare autosomal recessive axonal hereditary motor and sensory neuropathy with characteristics of adolescent or adult onset of slowly progressive muscle weakness and atrophy of the distal lower limbs progressing to involve also the upper limbs and proximal muscles and sensory impairment. Patients present gait disturbances and loss of reflexes, at later stages loss of ambulation, dysarthria, dysphagia, facial weakness and impairment of respiratory muscles requiring assisted ventilation.	Preferred (foundation metadata concept)
A rare autosomal recessive axonal hereditary motor and sensory neuropathy with characteristics of adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment and decreased or absent deep tendon reflexes predominantly in the lower extremities. Patients present gait disturbances but remain ambulatory. Mild involvement of the upper limbs may be seen.	Preferred (foundation metadata concept)
A rare autosomal recessive axonal hereditary motor and sensory neuropathy with characteristics of childhood to adult onset of slowly progressive, sometimes asymmetric distal muscle weakness and atrophy, as well as sensory impairment, predominantly of the lower limbs. Additional common features include pes cavus, kyphoscoliosis, ankle contractures, tremor or urogenital dysfunction. Fasciculations and proximal involvement may be seen in some cases. Patients usually remain ambulatory.	Preferred (foundation metadata concept)
A rare autosomal recessive axonal hereditary motor and sensory neuropathy with characteristics of infantile onset of recurrent episodes of acute liver failure (resulting in chronic liver fibrosis and hepatosplenomegaly), delayed motor development, cerebellar dysfunction presenting as gait disturbances and intention tremor, neurogenic stuttering and motor and sensory neuropathy with muscle weakness especially in the lower legs, and numbness. Mild intellectual disability was reported in some patients. MRI of the brain shows non-progressive atrophy of the cerebellar vermis and thinning of the optic nerve.	Preferred (foundation metadata concept)
A rare autosomal recessive axonal hereditary motor and sensory neuropathy with characteristics of motor-predominant axonal polyneuropathy due to a defect in copper metabolism. Patients become symptomatic in infancy or childhood with subtle motor delay or regression, manifesting with progressive weakness, muscle wasting and absent reflexes in the lower and upper extremities. In addition, vibratory sensation is mildly diminished. Involvement of the face with weakness and fasciculation of facial muscles has also been described.	Preferred (foundation metadata concept)
A rare autosomal recessive cerebellar ataxia characterised by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminaemia. Cerebellar ataxia is the first manifestation of AOA1 with progressive gait imbalance followed by dysarthria, and limb dysmetria. Later, peripheral axonal motor neuropathy dominates the clinical picture. Oculomotor apraxia is present in almost all individuals with AOA1. Chorea is present at onset in 80% of patients and upper limb dystonia occurs in about 50% of individuals. Additional features include square wave jerks, saccadic pursuit and gaze-evoked nystagmus, areflexia followed by severe peripheral neuropathy. Variable intellectual disability is observed.	Preferred (foundation metadata concept)
A rare autosomal recessive cerebellar ataxia with characteristics of progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level. This disease is mostly an adolescent onset disorder. Caused by mutations in SETX gene (9q34), encoding senataxin protein, a DNA/RNA helicase in nucleus which is implicated in DNA break repair. Mutations in the gene PIK3R5 (17p13.1) have also been implicated in the pathogenesis of this disease. Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterised by early-childhood onset of cerebellar ataxia associated with generalised tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI. Caused by homozygous mutation in the WWOX gene on chromosome 16q23.	Preferred (foundation metadata concept)
A rare autosomal recessive complex spastic paraplegia with characteristics of mostly adult-onset progressive spasticity and weakness predominantly affecting the lower limbs, axonal motor and sensory neuropathy and cerebellar symptoms like ataxia, dysarthria and oculomotor abnormalities. Variable degrees of cognitive impairment may also be present. Subtle extrapyramidal involvement and supranuclear gaze palsy were reported in some cases. Features on brain imaging include cerebral and cerebellar atrophy and sometimes abnormalities of the corpus callosum or basal ganglia.	Preferred (foundation metadata concept)
A rare autosomal recessive disorder characterised by very early-onset and severe hypertension, low renin levels, low aldosterone, metabolic alkalosis, hypernatraemia, and hypokalaemia.	Preferred (foundation metadata concept)
A rare autosomal recessive distal hereditary motor neuropathy with characteristics of slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared. There is evidence this disease is caused by homozygous mutation in the DNAJB2 gene on chromosome 2q35.	Preferred (foundation metadata concept)
A rare autosomal recessive distal myopathy with characteristics of early adult-onset slowly progressive often asymmetrical lower limb muscle weakness initially affecting the calves (with relative anterior muscle sparing) and later proximal muscle involvement, as well as highly elevated creatine kinase (CK) serum levels. Age at onset ranges from 20 to 50 years. Clinical manifestations can be mild or subjectively nonexistent in spite of presenting clear changes on muscle imaging. Caused by loss of function mutations in the gene ANO5 (11p14.3) which encodes a protein highly expressed in skeletal and cardiac muscle, as well as bone.	Preferred (foundation metadata concept)
A rare autosomal recessive distal myopathy with characteristics of slowly progressive diffuse muscle weakness in childhood, followed by predominantly distal muscle weakness in adolescence and quadriceps muscle weakness in the fourth decade. Facial muscle weakness is commonly reported. Muscle biopsy shows fibre size variation, increased internal nuclei, fibre splitting, rimmed vacuoles and focal endomysial fibrosis.	Preferred (foundation metadata concept)
A rare autosomal recessive hereditary sensory and autonomic neuropathy characterised by congenital impaired sensation of acute or inflammatory pain in combination with an inability to identify noxious heat or cold, leading to numerous painless mutilating lesions and injuries. Further manifestations are absence of corneal reflexes resulting in corneal scarring, reduced sweating and tearing and recurrent skin infections. Large-fibre sensory modalities such as light touch, vibration and proprioception are normal.	Preferred (foundation metadata concept)
A rare autosomal recessive inherited disorder caused by mutations in the SERAC1 gene. Multiple body systems are affected with manifestations including 3-methylglutaconic aciduria, deafness, encephalopathy and Leigh-like disease.	Preferred (foundation metadata concept)
A rare autosomal recessive iron metabolism disorder characterised by iron deficiency anaemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment. 50 patients from 32 families of different ethnic origin have been described to date; however, it is likely that this condition is underdiagnosed. Most IRIDA patients have no major clinical signs, except for pallor, and have normal growth and development. IRIDA syndrome is due to mutations the TMPRSS6 gene encoding Matriptase 2, a transmembrane serine protease that plays an essential role in down-regulating hepcidin, the key regulator of iron homeostasis. Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A rare autosomal recessive limb-girdle muscular dystrophy with characteristics of adult onset of progressive muscle weakness and atrophy in the proximal upper and lower limbs, leading to scapular winging and loss of independent ambulation. Respiratory function may become impaired in the course of the disease. Fatty degeneration of internal regions of thigh muscles sparing external areas has been reported, as well as a reduction of alpha-dystroglycan in muscle biopsies.	Preferred (foundation metadata concept)
A rare autosomal recessive primary immunodeficiency characterised by infancy onset of severe inflammatory bowel disease with life-threatening diarrhoea and failure to thrive, oral aphthous ulcers, and recurrent severe upper and lower respiratory tract infections with finger clubbing. Laboratory examination reveals increased IgE and decreased IgG levels, as well as reduced numbers of circulating CD19+ B-cells including IgM+ naive and class-switched IgG memory B-cells, with a concomitant increase in transitional B-cells, while T-cell numbers and function are normal.	Preferred (foundation metadata concept)
A rare autosomal recessive primary immunodeficiency characterised by susceptibility to Epstein-Barr virus (EBV)-associated lymphoproliferative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma, lymphoid granulomatosis, haemophagocytic lymphohistiocytosis and smooth muscle tumour. Patients present with persistent symptoms of infectious mononucleosis including recurrent febrile episodes, lymphadenopathy and hepatosplenomegaly accompanied by a high EBV viral load in the blood. Additional manifestations are autoimmune diseases like haemolytic anaemia or renal disease.	Preferred (foundation metadata concept)
A rare autosomal recessive primary immunodeficiency characterised by susceptibility to Epstein-Barr virus (EBV)-related disorders (B-cell lymphoproliferative disorders including Hodgkin lymphoma) as well as dysgammaglobulinaemia and recurrent infections. Patients can present with recurrent fever, lymphadenopathy, hepatosplenomegaly, Behçet-like stomatitis, pharyngitis, tonsillitis, adenitis and viral encephalitis.	Preferred (foundation metadata concept)
A rare autosomal recessive urea cycle defect characterised biologically by hyperammonaemia and clinically by progressive lethargy, poor feeding and vomiting. There is evidence that this disease is caused by homozygous or compound heterozygous mutation in the ASS1 gene on chromosome 9q34.	Preferred (foundation metadata concept)
A rare autosomal recessively inherited disorder of ketone body metabolism, characterised clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycaemia and in rare cases coma. Patients are mostly asymptomatic between acute episodes. This disease requires an early diagnosis in order to avoid hypoglycaemic crisis that can lead to permanent brain damage or death. Caused by homozygous or compound heterozygous mutation in the HMGCS2 gene on chromosome 1p12.	Preferred (foundation metadata concept)
A rare autosomal trisomy with characteristics of reduced fetal movements and intrauterine growth retardation, low birth weight and multiple congenital anomalies. The latter include amongst others facial dysmorphism (hypertelorism, cleft lip/palate, micrognathia, low hairline, and small low-set and posteriorly rotated ears), head circumference below average, deformities of the hands (camptodactyly) and feet, marked hypertrichosis and anomalies of the brain, heart, and lungs. Lethality appears to depend on the degree of mosaicism.	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)