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 secondary glomerular disease characterised by proteinuria, dysproteinaemia, nephrotic syndrome, and nodular glomerulopathy leading to renal failure, with or without extra-renal manifestations. The renal biopsy shows typical deposits of monoclonal immunoglobulins that do not show a fibrillar organisation and are negative for Congo red staining. Associated signs and symptoms depend on the involvement of other organs, liver, heart, nerve fibres, gastrointestinal tract or skin.	Preferred (foundation metadata concept)
A rare secondary haemophagocytic lymphohistiocytosis characterised by occurring as either initial presentation of a malignant disease or at any stage during chemotherapy. The common associated malignancies are leukaemias, B-cell, T-cell or NK-cell lymphomas, and Hodgkin lymphoma. Typical clinical manifestation includes fever, hepatosplenomegaly and cytopenias, combined with specific laboratory findings.	Preferred (foundation metadata concept)
A rare secondary neonatal autoimmune disease with characteristics of single or recurrent episodes of venous, arterial or mixed thrombosis in a neonate whose mother does not have antiphospholipid syndrome manifestations. Patients present positive antiphospholipid antibodies and may have additional abnormalities associated (for example cardiac valve disease, livedo reticularis, thrombocytopenia, nephropathy, neurological manifestations).	Preferred (foundation metadata concept)
A rare severe and life-threatening genetic disease occurring during the neonatal period. The disease has characteristics of classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also 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 congenital neutropenia disorder with characteristics of lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (for example otitis media, pneumonia, sinusitis, urinary tract infections, abscess of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy have been reported in some patients. Caused by homozygous or compound heterozygous mutation in the HAX1 gene on chromosome 1q21.	Preferred (foundation metadata concept)
A rare severe early-onset neurodegenerative encephalopathy with main characteristic developmental delay/regression, epilepsy, cortical atrophy, secondary hypomyelination and thin corpus callosum. Additional features include secondary microcephaly, hypotonia, spasticity, optic atrophy and skeletal anomalies. This syndrome is caused by biallelic pathogenic variants in TBCD gene (17q25.3), encoding tubulin folding co-factor D (TBCD), one of five co-chaperones required for microtubule assembly dynamics. The pattern of inheritance is autosomal recessive.	Preferred (foundation metadata concept)
A rare severe genetic autoinflammatory syndrome characterised by usually neonatal onset of generalised neutrophilic cutaneous pustulosis and severe recurrent multifocal aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features. Caused by homozygous mutation in the IL1RN gene on chromosome 2q14.	Preferred (foundation metadata concept)
A rare severe phenotypic variant of dyskeratosis congenita with onset in early childhood. The syndrome has features of dyskeratosis congenita (for example skin hyper/hypopigmentation, nail dystrophy, high risk of bone marrow failure and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy and intracranial calcifications.	Preferred (foundation metadata concept)
A rare skeletal disease with characteristics of symmetric shortening of the middle segments of limbs and short stature. It has been described in five families. In the upper limbs, the ulnae are very short, and the radii are bowed. The distal humerus has a dumbbell shape. The hands show progressive flexion contractures of the proximal interphalangeal joints. In the lower limbs, feet are fixed in plantar flexion so that the patients walk on their toe tips. All affected patients have normal craniofacial features and intelligence. Two micro duplications have been identified on chromosome 2 (2q31.1-q31.2), separated by a segment of normal copy number. In all families, the condition is transmitted as an autosomal dominant trait.	Preferred (foundation metadata concept)
A rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasia. The disease has characteristics of progressive dwarfism with short trunk, protruding sternum, microcephaly and mental retardation of varying severity. Caused by mutations of the DYM gene (18q21.1). The large majority of mutations identified in the gene predict a loss of function of its product. DYM is expressed in the majority of tissue and codes for Dymeclin, a protein that interacts with membranes of the Golgi apparatus, but its role within the cell is still unknown. Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A rare skeletal dysplasia with characteristics of anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.	Preferred (foundation metadata concept)
A rare skeletal dysplasia with characteristics of peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible individuals with a male karyotype. The disorder is autosomal dominant; however, most cases are due to heterozygous de novo mutations in the SOX9 gene (localised to 17q24). In rare individuals the disorder is caused by chromosomal recombination (deletion or translocation) involving the region 17q24.	Preferred (foundation metadata concept)
A rare skeletal muscle disease with characteristics of eosinophilic infiltration and inflammatory lesions of the skeletal muscle tissue in the absence of an identifiable causative factor (for example parasitic infection, drug intake, systemic or malignant disease). Clinically patients may present focal or generalised muscle weakness and pain, difficulties with walking, motor clumsiness, as well as elevated serum creatine kinase levels and peripheral blood and/or bone marrow hypereosinophilia.	Preferred (foundation metadata concept)
A rare skin disease belonging to the spectrum of autoinflammatory syndromes with the triad of pyoderma gangrenosum (PG), suppurative hidradenitis (SH) and acne.	Preferred (foundation metadata concept)
A rare skin disease characterised by the association of sebaceous naevus and aplasia cutis congenita (usually on the scalp and face) in conjunction with limbal dermoid of the eye, a giant congenital melanocytic naevus and variable central nervous system abnormalities including seizures, hydrocephalus, neurocutaneous melanosis, arachnoid cysts, and diffuse unilateral hemisphere enlargement.	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. The 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 with characteristics of 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 slow growing neuronal tumour seen more frequently in females than males, occurring most commonly in the cerebellum but occasionally in the supratentorial compartment or the fourth ventricle and presenting in the 4th to 6th decade of life with symptoms of dizziness, headache and gait instability. It often has a high rate of local recurrence.	Preferred (foundation metadata concept)
A rare slow-growing uterine cancer with histological characteristics of small, well differentiated nests of basaloid cells resembling basal cell carcinoma of the skin, commonly associated with squamous cell carcinoma or squamous intraepithelial lesions. Patients are usually asymptomatic or present with dysfunctional vaginal bleeding, often with no observable lesion on the cervix. Infection with high-risk human papilloma virus (HPV) types (16 and 33) has been reported in some cases.	Preferred (foundation metadata concept)
A rare slowly progressive autosomal recessive distal myopathy with characteristics of early onset of predominantly distal muscle weakness and atrophy affecting lower leg extensor muscles, finger extensors and neck flexors. Muscle histology does not always show nemaline rods. The disease manifests initially in early childhood or young adulthood by foot drop but the first symptoms can be seen as early as one year of age. Caused by biallelic mutations (with at least one of them being missense mutation) in the gene NEB (2q22) which encodes the protein nebulin. The latter is expressed in the thin filaments of striated muscle and is required for the proper assembly of the thin filaments, for the maintenance of their lengths and for their contractile function. Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A rare slowly progressive cutaneous disease with characteristics of rock-hard skin bound firmly to the underlying tissues (mainly on the shoulders, lower back, buttocks and thighs), mild hypertrichosis and hyperpigmentation overlying the affected areas of skin, as well as limited joint mobility (mainly of large joints) with flexion contractures. Cutaneous nodules, affecting mostly distal interphalangeal joints, as well as extracutaneous manifestations, including diffuse entrapment neuropathy, scoliosis, a tiptoe gait and a narrow thorax, may be associated. Restrictive pulmonary changes, muscle weakness, short stature and growth delay have also been reported. No vascular hyperreactivity, immunologic abnormalities or visceral, muscular or bone involvement has been described.	Preferred (foundation metadata concept)
A rare slowly progressive genetic peripheral neuropathy with characteristics of distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with unilateral or bilateral vocal cord paresis leading to hoarse voice, breathing difficulties and facial weakness.	Preferred (foundation metadata concept)
A rare soft tissue sarcoma composed predominantly of spindle-shaped neoplastic cells showing perineurial differentiation and displaying abundant cellular pleomorphism or anaplasia, frequent mitoses, tumour necrosis and high metastatic potential. It often presents as a soft, painless, solid mass in subcutaneous tissues of the trunk or limbs, but tumours have also been described in the facial area, mediastinum, retroperitoneum, pancreas, paravertebral column and the pelvic soft tissues. Frequent local recurrence and distant metastatic spread has been reported.	Preferred (foundation metadata concept)
A rare soft tissue tumour characterised by high incidence of local recurrence, regional lymph node involvement and distant metastases. It commonly affects the soft tissue under the skin of a finger, hand, forearm, lower leg or foot, less often other areas of the body.	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 spondyloepimetaphyseal dysplasia with the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features and normal intelligence.	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 subcutaneous tissue disease with characteristics of growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (for example reduced neck mobility, compression of respiratory structures). Some cases with autosomal dominant inheritance patterns or suspected mitochondrial inheritance have been described.	Preferred (foundation metadata concept)
A rare subtype of Joubert syndrome and related disorders with characteristics of the neurological features of Joubert syndrome associated with both renal and ocular disease. Prevalence is unknown. The patient presents with retinal involvement (manifesting with either Leber congenital amaurosis or progressive retinal dystrophy) and nephronophthisis (usually juvenile). Retinal involvement is present at birth or may manifest later in life. Juvenile nephronophthisis usually becomes clinically symptomatic towards the late first decade or the early second decade of life. About 50% of patients carry mutations in the CEP290 gene (12q21.33), the syndrome is transmitted in an autosomal recessive manner.	Preferred (foundation metadata concept)
A rare subtype of Joubert syndrome with manifestation of the neurological features of Joubert Syndrome associated with renal disease, in the absence of retinopathy. Prevalence is unknown. In most cases the renal disease manifests as juvenile nephronophthisis, with onset of clinical symptoms in the late first/early second decade of life, although in rare cases there may be infantile nephronophthisis, with onset in the first years of life. The most commonly mutated genes in this subtype are NPHP1 (2q13) and RPGRIP1L (16q12.2) with autosomal recessive inheritance.	Preferred (foundation metadata concept)
A rare subtype of Leigh syndrome with clinical characteristics of encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay. Onset in infancy or early childhood resulting from maternally-inherited mutations in mitochondrial DNA.	Preferred (foundation metadata concept)
A rare subtype of acute myeloid leukaemia with recurrent cytogenetic abnormalities characterised by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anaemia, thrombocytopenia and nonspecific symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this 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 with characteristics of 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. There is evidence this disease is caused by a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14.	Preferred (foundation metadata concept)
A rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease with characteristics of 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 recessive intermediate Charcot-Marie-Tooth (CMT) disease with characteristics of 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. Caused by homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36.	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 with characteristics of 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 early-onset axial hypotonia, generalised muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q.	Preferred (foundation metadata concept)
A rare subtype of axonal hereditary motor and sensory neuropathy with characteristics of 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. There is evidence this disease is caused by heterozygous mutation in the DCAF8 gene on chromosome 1q23.	Preferred (foundation metadata concept)
A rare subtype of axonal hereditary motor and sensory neuropathy with characteristics of 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 distal arthrogryposis syndrome with characteristics of arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (for example ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, clubfeet, scoliosis and short stature. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the ECEL1 gene on chromosome 2q36.	Preferred (foundation metadata concept)
A rare subtype of dystrophic epidermolysis bullosa characterised by generalised blistering at birth that usually regresses within the first 6 to 24 months of life. Less than 30 cases have been reported to date. The disease usually manifests at birth. Skin blisters generally affect the whole body. Blisters can also affect the oral cavity. Disease activity usually ceases within the first 6 to 24 months of life. However, nail dystrophy and some degree of skin fragility can persist in adulthood. Caused by mutations within the type VII collagen gene (COL7A1). Mutations in this gene lead to reduced amounts or an alteration in function of collagen VII. The condition is usually inherited in an autosomal dominant manner, but can also rarely be transmitted as an autosomal recessive trait.	Preferred (foundation metadata concept)
A rare subtype of dystrophic epidermolysis bullosa that shows no blistering and that has characteristics of dystrophic or absent nails. Prevalence is unknown. Approximately ten families have been reported to date. However, this variant may be overlooked because of negligible clinical implications. Onset is usually at birth or during infancy. Except from nail involvement, no other cutaneous or extracutaneous symptoms are observed. Nail deformity is often limited to toenails that can appear thickened and shortened. Caused by mutations within the type VII collagen gene (COL7A1). It usually follows an autosomal dominant pattern of inheritance. One family with an autosomal recessive inheritance has also been reported.	Preferred (foundation metadata concept)
A rare subtype of low-grade glioma of the central nervous system characterised by a well circumscribed, often cystic, brain tumour with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localisation and the size of the tumour, patients can present with signs of raised intracranial pressure (headache, vomiting, papilloedema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but occurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported.	Preferred (foundation metadata concept)
A rare subtype of malignant mixed epithelial and mesenchymal neoplasm composed of benign or mildly atypical glandular elements and a surrounding low-grade malignant stroma, often containing heterologous elements, such as areas of sex-cord-like or smooth muscle differentiation. It usually presents with vaginal bleeding or discharge, lower abdominal pain and/or a cervical mass or polyp. The neoplasm may arise from pre-existing endometriosis and patients may have a history of recurrent cervical polyps.	Preferred (foundation metadata concept)
A rare subtype of mixed epithelial-mesenchymal tumour, often presenting as a large, exophytic polypoid lesion, which may extend through the cervix, composed of benign or atypical epithelium and low-grade malignant stroma. It usually presents with dysfunctional bleeding or vaginal discharge and less frequently abdominal pain. Association with long-term unopposed oestrogen therapy, tamoxifen therapy and a history of pelvic radiation has been reported.	Preferred (foundation metadata concept)
A rare subtype of orofaciodigital syndrome with sporadic occurrence and characteristics of cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulum, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals are also associated.	Preferred (foundation metadata concept)
A rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations. The disease has characteristics of severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulum, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign on brain imaging are also associated.	Preferred (foundation metadata concept)
A rare subtype of orofaciodigital syndrome, with sporadic occurrence and characteristics of cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, and brachydactyly, clinodactyly, syndactyly of hands and feet). Leukoaraiosis on brain MRI examination is also associated.	Preferred (foundation metadata concept)
A rare subtype of posterior corneal dystrophy with characteristics of congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. Prevalence of this rare corneal dystrophy is unknown. Males are affected more severely than females. The condition is progressive in males and non-progressive in females. Has been mapped to the long arm of the X-chromosome (Xq25) but the causative gene has not been identified. Transmission is X-linked recessive.	Preferred (foundation metadata concept)
A rare subtype of renal cell carcinoma arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with haematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes may predispose to the development of papillary renal cell carcinoma.	Preferred (foundation metadata concept)
A rare subtype of renal cell carcinoma characterised histologically by tubular architecture and sheets of spindle cells embedded in a mucinous/myxoid stroma and macroscopically by a solid, generally well-circumscribed, partially encapsulated tumour of variable size, with a homogenously coloured, bulging cut surface. Occasionally containing areas of haemorrhage or necrosis, usually located in the cortex. Patients can present abdominal/flank pain, abdominal mass and/or haematuria, however most are asymptomatic and tumour is discovered incidentally. Indolent behaviour is frequent and association with nephrolithiasis and end-stage kidney disease had been noted.	Preferred (foundation metadata concept)
A rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harbouring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include haematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anaemia, fatigue and fever.	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 micro lumen 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 type 1 autosomal dominant cerebellar ataxia with characteristics of cerebellar ataxia, tremor and cognitive impairment. Prevalence is unknown. Fewer than 80 patients affected by the disease have been identified to date. Age of onset is from 20 to 66 years. Genetic testing has shown that patients originally classified under SCA15 and SCA16 have the same subtype caused by a deletion in the inositol 1,4,5-triphosphate receptor 1 ITPR1 gene (3p26.1). Prognosis is generally good and life-shortening events do not usually occur.	Preferred (foundation metadata concept)
A rare superficial pemphigus disease characterised by severe intractable pruritus with erythematous or urticarial plaques and 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. Histologically, minimal or no apparent acantholysis is associated.	Preferred (foundation metadata concept)
A rare syndrome comprising hypocalcified-hypoplastic tooth enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis.	Preferred (foundation metadata concept)
A rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. To date only eight cases have been reported in the literature. Dysmorphic features include flat face, epicanthic folds, telecanthus, small downturned mouth, small ears with attached lobule and abnormal dental eruption and occlusion. Some patients had psychomotor development delayed. The reported cases suggest the condition is hereditary and is transmitted as an autosomal recessive trait.	Preferred (foundation metadata concept)
A rare syndrome described in two sisters of Mennonite descent, with characteristics of sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992.	Preferred (foundation metadata concept)
A rare syndrome of peripheral and cranial nerve dysfunction in patients with haematologic malignancies, mostly non-Hodgkin's lymphoma or acute leukaemia, characterised by painful or painless involvement of peripheral or cranial nerves or nerve roots. The clinical presentation is diverse depending on the site involved and includes plexopathy, mononeuritis multiplex, peripheral neuropathy, radiculopathy and cranial nerve palsies.	Preferred (foundation metadata concept)
A rare syndrome that is classically defined by the clinical triad of fibrous dysplasia of bone, cafe-au-lait skin spots and precocious puberty. The disease can involve single or multiple skeletal sites and presents with a limp and/or pain and occasionally, a pathologic fracture. Scoliosis is common and may be progressive. The disease results from somatic mutations of the GNAS gene, specifically mutations in the cAMP-regulating protein, Gs alpha. The extent of the disease is determined by the proliferation, migration and survival of the cell in which the mutation spontaneously occurs during embryonic development. The disease is rarely associated with malignancy however malignant transformation of fibrous dysplasia lesions occurs in probably less than 1% patients.	Preferred (foundation metadata concept)
A rare syndrome that presents with recurrent aphthous ulcers and relapsing polychondritis, and often but not always is accompanied by the features of Behcet's syndrome, which include genital ulcers and uveitis.	Preferred (foundation metadata concept)
A rare syndrome with characteristics of camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. Dysmorphic features include facial asymmetry, hypertelorism, broad nasal bridge, long philtrum and a small mouth. Winging scapulae, scoliosis, syndactyly and clinodactyly are commonly observed. The affected patients usually have normal mental development. The molecular basis of the syndrome has not yet been elucidated.	Preferred (foundation metadata concept)
A rare syndrome with characteristics of facial dysmorphism, intellectual deficit and costovertebral abnormalities. To date, 13 cases have been reported in the literature. Dysmorphic features include brachycephaly, hypertelorism, broad nasal bridge, large philtrum, triangular-shaped mouth and micrognathia. There is often synophrys and a low hairline on the back. Costovertebral abnormalities are always present: short, bifid or fused ribs, bony bridges joining the posterior arches in some ribs, hemi vertebrae. Intellectual deficit is constant but the severity varies and patients also have cerebral abnormalities: cortical atrophy, hypoplasia of the corpus callosum and cerebellar vermis.	Preferred (foundation metadata concept)
A rare syndrome with characteristics of palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis. The syndrome presents with severe and extensive skin manifestations. Severe, early-onset progressive periodontitis that affects both the deciduous and permanent dentitions and presents with gingival inflammation and alveolar bone destruction is a hallmark of the disease. Onychogryposis, arachnodactyly, acroosteolysis and pes planus are additional features that help to distinguish from other forms of palmoplantar hyperkeratosis. The syndrome is caused by germline mutations in the lysosomal protease cathepsin C (CTSC) gene mapped to chromosome 11q14.1-q14.3. It is transmitted as an autosomal recessive trait.	Preferred (foundation metadata concept)
A rare syndrome with characteristics of pre-natal onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.	Preferred (foundation metadata concept)
A rare syndrome with characteristics of split-hand and split-foot deformity and ocular abnormalities mainly a congenital nystagmus. Ten cases from four families have been reported in the literature. In some cases the hands are monodactylous. The affected patients have normal mental development. The condition seems to be autosomal dominant with a relatively high proportion of gonadal mosaicism.	Preferred (foundation metadata concept)
A rare syndrome with combined immunodeficiency and characteristics of intrauterine and postnatal growth retardation, chronic neutropenia, and natural killer (NK) cell deficiency due a defect in DNA replication leading to blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells. Other clinical features include recurrent viral and bacterial infections and eczema along with mild facial dysmorphism.	Preferred (foundation metadata concept)
A rare syndrome with combined immunodeficiency with characteristics of a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells. There is evidence the disease is caused by heterozygous mutation in the IKZF1 gene on chromosome 7p12.	Preferred (foundation metadata concept)
A rare syndrome with features of multiple congenital anomalies with macrocephaly (of post-natal onset), large anterior fontanelle, progressive complex spastic paraplegia, coarse facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.	Preferred (foundation metadata concept)
A rare syndrome with the association of congenital hypertrichosis in the anterior cervical region, peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993.	Preferred (foundation metadata concept)
A rare syndromic congenital ichthyosis with characteristics of premature birth in addition to thick caseous and desquamating epidermis, neonatal respiratory asphyxia and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy. The disease is caused by mutation in the FATP4 (SLC27A4) gene.	Preferred (foundation metadata concept)
A rare syndromic constitutional thrombocytopenia characterised by thrombocytopenia with increased bleeding tendency (leading to epistaxis, menorrhagia, and petechiae), in combination with myelofibrosis and splenomegaly. Platelets may be abnormally large or small and partly hypo or agranular, plasma thrombopoietin is elevated, and the number of megakaryocytes in the bone marrow increased. Additional non-haematologic manifestations have been described in some patients, including mild bone abnormalities and facial dysmorphism with large forehead, hypertelorism, deep-set eyes and wide nostrils.	Preferred (foundation metadata concept)
A rare syndromic craniosynostosis with characteristics of prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987.	Preferred (foundation metadata concept)
A rare syndromic developmental defect during embryogenesis with characteristics of urinary tract and kidney anomalies such as renal pelvicaliceal attenuation with multiple tiny caliceal diverticula, associated with sensorineural hearing loss. There have been no further descriptions in the literature since 1981.	Preferred (foundation metadata concept)
A rare syndromic developmental defect of the eye malformation with characteristics of unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the grey line, associated with cleft lip and palate. Eye examination is otherwise normal.	Preferred (foundation metadata concept)
A rare syndromic form of cerebellar dysgenesis with characteristics of moderate to severe intellectual deficit and cerebellar abnormalities. OPHN1 syndrome is very rare. To date, up to 12 families have been reported. Affected male patients present moderate to severe intellectual disability, hypotonia, severe developmental delay, early-onset complex partial or tonic-clonic seizures, strabismus, dysmetria and occasionally ataxia. Cryptorchidism and genital hypoplasia have been reported. Various mutations including deletions and splice site mutations in the OPHN1 gene (Xq12) have been reported in patients with this syndrome. Transmission appears to follow an X-linked semi-dominant pattern.	Preferred (foundation metadata concept)
A rare syndromic frontonasal dysplasia with characteristics of distinctive facial dysmorphic features including hypertelorism, almond-shaped palpebral fissures, nasal deformity with creased ridge, depressed or absent tip and asymmetry and partial absence of nasal bones and downturned corners of the mouth. Additional reported manifestations are limb anomalies (e. g. Poland anomaly, transverse limb agenesis and anomalies of the hands and feet such as camptodactyly, oligodactyly, clinodactyly and syndactyly), frontonasal encephalocele, choanal atresia, congenital renal/cardiac malformations, and corpus callosum agenesis.	Preferred (foundation metadata concept)
A rare syndromic genetic deafness with characteristics of a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family. There is evidence the disease is caused by heterozygous mutation in the MYH14 gene on chromosome 19q13.	Preferred (foundation metadata concept)
A rare syndromic genetic deafness with characteristics of congenital hearing loss, atresia or stenosis of the external auditory canal, dilated internal auditory canal, malformation of the inner ear (incomplete separation of the cochlea basal turn from the fundus of the internal auditory canal), in combination with abnormal auricular shape and facial dysmorphism (including thick eyebrows, ptosis, broad nasal root, and telecanthus). Intelligence is normal and developmental delay is absent.	Preferred (foundation metadata concept)
A rare syndromic hereditary optic neuropathy disorder with characteristics of early-onset severe progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (for example mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and occasionally moderate hypertrophic cardiomyopathy. There is evidence the disease is caused by homozygous mutation in the TMEM126A gene on chromosome 11q1.	Preferred (foundation metadata concept)
A rare syndromic hyperpigmentation of the skin with characteristics of multiple lentigines and cafe-au-lait spots associated with hiatal hernia and peptic ulcer, hypertelorism and myopia. There have been no further descriptions in the literature since 1982.	Preferred (foundation metadata concept)
A rare syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia.	Preferred (foundation metadata concept)
A rare syndromic inherited form of sideroblastic anaemia characterised by mild to moderate anaemia (with hypochromia and microcytosis) and early-onset, non or slowly progressive spinocerebellar ataxia. Caused by mutations in the ABCB7 gene (Xq13.3), encoding a mitochondrial ATP-binding cassette (ABC) transporter protein, which plays a role in heme production and iron homeostasis. A mutation in this gene alters the availability of reduced iron and therefore disrupts heme biosynthesis. The ABCB7 gene is highly expressed in both the bone marrow and the cerebellum, which may explain ataxia. Inherited in an X-linked recessive manner.	Preferred (foundation metadata concept)
A rare syndromic intellectual disability characterised by developmental delay and intellectual disability, learning and behavioural problems, short stature, thin and sparse hair, mild dysmorphic features, tapering fingers and later onset of scoliosis, obesity and cardiovascular problems (cardiomegaly and cardiomyopathy). Females have normal intelligence.	Preferred (foundation metadata concept)
A rare syndromic intellectual disability characterised by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnoea. There have been no further descriptions in the literature since 1987.	Preferred (foundation metadata concept)
A rare syndromic intellectual disability characterised by hypotonia, developmental delay, absent or severely delayed speech development, obstructive sleep apnoea, mild dysmorphic facial features and behavioural abnormalities. Epilepsy, ataxia and nystagmus have also been reported. Caused by heterozygous mutation in the AHDC1 gene on chromosome 1p36.	Preferred (foundation metadata concept)
A rare syndromic intellectual disability characterised by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioural issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated. Caused by heterozygous mutation in the SETD5 gene on chromosome 3p25.	Preferred (foundation metadata concept)
A rare syndromic intellectual disability disorder with characteristics of moderate intellectual disability, variable hand abnormalities (including brachydactyly, cutaneous and osseous syndactyly) and facial dysmorphism that includes short palpebral fissures, bulbous nasal tip, thin upper and lower vermilion and broad, pointed chin. Other features, including obesity, microcephaly, short stature and a grimacing smile may be observed.	Preferred (foundation metadata concept)
A rare syndromic intellectual disability syndrome with characteristics of cortical blindness, different types of seizures, intellectual disability with limited or absent speech and dysmorphic facial features. Brain imaging typically shows mild pontine hypoplasia, hypoplasia of the corpus callosum and atrophy in the occipital region. There is evidence the disease is caused by compound heterozygous mutation in the DOCK7 gene on chromosome 1p31.	Preferred (foundation metadata concept)
A rare syndromic intellectual disability with characteristics of global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioural issues, stereotypic behaviour, febrile seizures and epilepsy, abnormal gait, vision defects and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present.	Preferred (foundation metadata concept)
A rare syndromic intellectual disability with primary characteristics of moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.	Preferred (foundation metadata concept)
A rare syndromic intestinal malformation characterised by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or melaena. Vertebral anomalies in the lower cervical spine, with central nervous system involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported.	Preferred (foundation metadata concept)
A rare syndromic microphthalmia disorder with characteristics of microphthalmia with coloboma (which may involve the iris, ciliary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.	Preferred (foundation metadata concept)
A rare syndromic nail anomaly disorder with characteristics of the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with longitudinal furrows on electronic microscopy.	Preferred (foundation metadata concept)
A rare syndromic obesity due to complex chromosomal rearrangement with characteristics of development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.	Preferred (foundation metadata concept)
A rare syndromic type of cerebral malformation with characteristics of aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (such as ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (such as hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies.	Preferred (foundation metadata concept)
A rare systemic amyloidosis with characteristics of a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility and less commonly peripheral neuropathy and renal failure. Caused by mutation in the gelsolin gene (GSN).	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)