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 type of intensity modulated radiation therapy technique where the radiotherapy machine rotates around the patient, radiating the target in a complete three dimensional manner with variable speed and/or dose rate.	Preferred (foundation metadata concept)
A type of isolated punctate hereditary palmoplantar keratoderma with characteristics of multiple asymptomatic 1 to 2 mm-long, firm, hyperkeratotic projections (spiny keratosis) on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically compact columnar parakeratosis over hypo or agranular epidermis is observed.	Preferred (foundation metadata concept)
A type of low-grade glioma with a mixed astrocytoma and oligodendroglioma histology, manifesting with headaches, speech and motor problems, seizures and in some cases subarachnoid haemorrhage.	Preferred (foundation metadata concept)
A type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterised clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninaemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.	Preferred (foundation metadata concept)
A type of multiple epiphyseal dysplasia manifesting with early onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Specific features include normal stature and lesser incidence of gait abnormalities. Follows an autosomal dominant mode of transmission.	Preferred (foundation metadata concept)
A type of non-immune hypersensitivity process that represents the underlying mechanism of pseudoallergic conditions.	Preferred (foundation metadata concept)
A type of oculocutaneous albinism found in one Pakistani family to date, with characteristics of white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity. Affects males and females equally. Mapped to a locus on chromosome 4q24 but the gene has not yet been discovered.	Preferred (foundation metadata concept)
A type of oculocutaneous albinism recently discovered in one Chinese family, with characteristics of light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity. Caused by mutations in the SLC24A5 gene (15q21.1).	Preferred (foundation metadata concept)
A type of primary congenital hypothyroidism a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis. Clinical manifestations are those of other forms of congenital hypothyroidism. In addition to features of hypothyroidism, patients can present with goitre. Caused by hereditary defects in the steps of thyroid hormone synthesis and secretion, the majority of which are transmitted in an autosomal recessive manner but at least one condition has autosomal dominant inheritance.	Preferred (foundation metadata concept)
A type of primary hyperaldosteronism resulting from a benign neoplasm of the adrenal gland. The adrenal neoplasm increases production of aldosterone. Excess aldosterone causes the kidneys to retain more salt than usual resulting in increases in body fluid levels and blood pressure. The disease is caused by mutations in one of several genes. The most commonly mutated gene is KCNJ5, accounting for an estimated 40 percent of the neoplasms, followed by the CACNA1D and ATP1A1 genes. Changes in other genes cause a small percentage of cases with additional unidentified genes involved in the condition. The disease is generally not inherited but may arise from a mutation occurring after conception.	Preferred (foundation metadata concept)
A type of progressive familial intrahepatic cholestasis, this disease is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Onset occurs in the neonatal period. Clinical signs of cholestasis usually appear in the first months of life with recurrent or permanent jaundice associated with hepatomegaly and severe pruritus. Patients usually develop fibrosis and end-stage liver disease before adulthood. PFIC2 is due to mutations in the ABCB11 gene (2q24) encoding the bile salt export pump (BSEP) protein resulting in impaired biliary bile acid secretion which leads to decreased bile flow and bile salt accumulation in hepatocytes with ongoing severe hepatocellular damage.	Preferred (foundation metadata concept)
A type of pseudohypoparathyroidism with characteristics of localised resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcaemia, hyperphosphataemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance. Severity of symptoms can vary greatly between patients and even among kindreds. The majority of cases are sporadic, but an autosomal dominant transmission has also been described. About 70% of patients display methylation defects, sporadic or genetic-based, at GNAS (20q13.2-q13.3) differentially methylated regions (DMRs).	Preferred (foundation metadata concept)
A type of pseudohypoparathyroidism with characteristics of resistance to parathyroid hormone (PTH), which manifests with hypocalcaemia, hyperphosphataemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy and normal expression of the Gs protein with a normal urinary cAMP response. To date no specific genetic alteration responsible for this disorder has been detected. It has been hypothesised that in most cases it may be an acquired defect secondary to vitamin D deficiency such as in misdiagnosed secondary renal hyperparathyroidism.	Preferred (foundation metadata concept)
A type of reference set that allocates an order to a set of SNOMED CT associations.	Preferred (foundation metadata concept)
A type of reference set that allocates an order to a set of SNOMED CT components.	Preferred (foundation metadata concept)
A type of resorption which is self-limiting and usually occurs following trauma. The disorder manifests as small superficial lacunae in the cementum and may extend in the outermost layer of dentin.	Preferred (foundation metadata concept)
A type of severe combined immunodeficiency disease characterised by severe and recurrent infections, diarrhoea, failure to thrive, and cell sensitivity to ionising radiation. Prevalence is unknown. Results from null mutations in the DCLRE1C gene (10p13) that lead to a defect in the V(D)J recombination and thus to an early arrest of both B and T cell maturation. Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A type of spina bifida aperta that is usually caused by a vertebral defect associated with a superficial fatty mass (lipoma or fatty tumour) that merges with the lower level of the spinal cord.	Preferred (foundation metadata concept)
A type of superficial inflammatory dermatitis occurring where two skin surfaces are in apposition. Intertrigo occurs in the skin fold and results from friction, heat, moisture and may lead to skin infection.	Preferred (foundation metadata concept)
A type of supernumerary tooth which has the morphology of a normal fully formed tooth.	Preferred (foundation metadata concept)
A type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and haemorrhage but does not cause myeloproliferation. The disease usually presents at birth but can be discovered at any time during life and thus can affect all ages. Familial thrombocytosis is caused by germline mutations in the THPO gene (3q26.3-q27) or in the MPL (MPL S505N) gene (1p34).	Preferred (foundation metadata concept)
A type of transient congenital hypothyroidism a thyroid hormone deficiency that is not permanent. Patients may present with symptoms similar to those of permanent congenital hypothyroidism or they may be asymptomatic. It is caused by the transfer of maternal thyroid stimulating hormone (TSH) blocking antibodies, which can block the TSH receptor in the neonatal thyroid resulting in hypothyroidism in the infant. The effect can last up to 3-6 months after birth as maternal antibody levels fall. Treatment with l-thyroxine is usually required during this period.	Preferred (foundation metadata concept)
A uniparental disomy of chromosome 1 of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only the mother is a carrier.	Preferred (foundation metadata concept)
A uniparental disomy of chromosome 13 of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only the mother is a carrier.	Preferred (foundation metadata concept)
A uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.	Preferred (foundation metadata concept)
A uniparental disomy of maternal origin which may be associated with intrauterine growth retardation and an elevated risk of congenital malformations. Healthy carriers have also been reported. In addition, cases of homozygosity for a recessive disease mutation for which the mother was a carrier have been described and specific phenotype depends on the inherited disorder.	Preferred (foundation metadata concept)
A uniparental disomy of paternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the father is a carrier and specific phenotype depends on the inherited disorder.	Preferred (foundation metadata concept)
A unique form of congenital adrenal hyperplasia characterised by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations. Prenatal androgen excess is responsible for severe virilisation of external genitalia in girls and undervirilisation in boys manifesting as a micropenis to severe perineoscrotal hypospadias. Craniofacial malformations observed include large domed forehead, flat nose, midface hypoplasia with proptosis and dysplastic ears. The disease follows an autosomal recessive pattern of inheritance.	Preferred (foundation metadata concept)
A unit/mL	Preferred (foundation metadata concept)
A urethral route that begins through the urethra.	Preferred (foundation metadata concept)
A variant of autosomal dominant optic atrophy associating typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness. ADOA plus is caused by mutations in the OPA1 gene (3q29), encoding a dynamin-like GTPase involved in the fusion of the inner mitochondrial membrane. The phenotypes observed in ADOA plus are thus related to mitochondrial DNA instability resulting in multiple mitochondrial DNA deletions. Transmission is autosomal dominant with variable penetrance.	Preferred (foundation metadata concept)
A variant of central neurocytoma, a rare neuronal neoplasm, composed of round cells with neuronal differentiation, which is located outside of the ventricular system, usually within the spinal cord or cerebral hemispheres and that manifests with headache, nausea, vomiting, complex partial seizures or focal neurological deficits. In some cases it may exhibit atypical features consistent with aggressive clinical behaviour.	Preferred (foundation metadata concept)
A variant of lichen planopilaris characterised by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin. It is a very rare disease but the exact prevalence is not known. It mainly affects women during adulthood (30-60 years of age). Scarring alopecia presents as small confluent patches that are atrophic and cicatricial in the centre but erythematous and squamous around the edges. Follicular keratosis presents as pruritic, red-brown, follicular spiny papules on the trunk and extremities. Generally, the three clinical features appear simultaneously but in some cases, scalp alopecia precedes the follicular keratosis. Aetiology is unknown.	Preferred (foundation metadata concept)
A variant of neurofibromatosis type 1 characterised by the combination of features of neurofibromatosis type 1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome, with features such as short stature, typical facial features, congenital heart defects and unusual pectus deformity.	Preferred (foundation metadata concept)
A variant of self-healing collodion baby with manifestation of the presence at birth of a collodion membrane only at the extremities. Only 2 cases were described in the literature. In both cases, the babies healed soon after birth. In one case, molecular analysis was performed that revealed mutations in the TGM1 gene encoding transglutaminase 1, an enzyme involved in the cornification of the stratum corneum.	Preferred (foundation metadata concept)
A vein located in the antecubital fossa	Preferred (foundation metadata concept)
A venous and lymphatic drainage technique applied through the lower extremities.	Preferred (foundation metadata concept)
A vertical line passing through the lateral malleolus, used as a point of reference in standing lateral x-rays and postural evaluation.	Preferred (foundation metadata concept)
A vertical line used as a reference in standing antero-posterior x-rays and postural evaluation, passing equidistant between the heels.	Preferred (foundation metadata concept)
A vertical plane at right angles to a sagittal plane, dividing the body into anterior and posterior portions, or any plane parallel to the central coronal plane.	Preferred (foundation metadata concept)
A very rare Epstein-Barr virus-associated lymphoproliferative disorder characterised by a chronic, recurrent, vesiculopapular rash, which subsequently ulcerates and scars, located mainly on sun-exposed areas and which is associated with systemic manifestations, such as fever, weight loss, asthenia, facial oedema, arthralgia, lymphadenopathy, hepatosplenomegaly and/or increased liver enzymes. Hypersensitivity to mosquito bites has been associated and an increased risk of developing systemic lymphoma has been reported.	Preferred (foundation metadata concept)
A very rare X-linked multisystem genetic disease characterised by intellectual disability, truncal obesity, gynaecomastia, hypogonadism, dysmorphic facial features, and short stature. The syndrome has been described in two families to date. The syndrome has been linked to a mutation in the consensus donor splice site of the histone deacetylase 8 HDAC8 gene (Xq13). X-linked recessive transmission and X-linked dominant inheritance with absence of male-to-male transmission have been reported.	Preferred (foundation metadata concept)
A very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita, characterised by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anaemia.	Preferred (foundation metadata concept)
A very rare aggressive form of systemic mastocytosis characterised by abnormal growth and proliferation of neoplastic mast cells (>20%) in the bone marrow and/or blood, as well as other tissues such as the liver, peritoneum, spleen or bones. Patients typically present with symptoms related to mast cell activation (for example hot flushes, fever, malaise, diarrhoea, tachycardia), weight loss, anorexia and hepatosplenomegaly or less frequently cutaneous mastocytosis. Gastroduodenal ulcers (often complicated by haemorrhage), ascites and portal hypertension have also been reported.	Preferred (foundation metadata concept)
A very rare and atypical form of Chédiak-Higashi syndrome, a genetic disorder with characteristics of partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. Missense mutations in the LYST lysosomal gene (1q42.1-q42.2) appear to cause this form of Chédiak-Higashi syndrome. Inherited in an autosomal recessive manner.	Preferred (foundation metadata concept)
A very rare and complex hamartomatous overgrowth disorder with characteristics of progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. Neonates usually appear normal at birth. Onset usually occurs from 6-18 months of age with asymmetric overgrowth seen mainly in the hands or feet. Causal mutations have been reported in two components of the phosphatidylinositol 3-kinase (PI3K)-AKT pathway: PTEN and AKT1. The AKT1 mutation is a somatic mosaic. PTEN mutations have been reported both in the constitutive DNA and as somatic mosaic mutations. The disease is not inherited in those with a somatic AKT1 de novo mutation; PTEN mutations are inherited autosomal dominantly.	Preferred (foundation metadata concept)
A very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations including dyspnoea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties). When large, they can lead to airway obstruction, asphyxia and death in the neonatal period.	Preferred (foundation metadata concept)
A very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. More commonly seen in females, and presents with various manifestations (depending on the tumour size) including obstructive polyhydramnios in the prenatal period.	Preferred (foundation metadata concept)
A very rare and mild form of spondylocostal dysostosis with characteristics of vertebral and costal segmentation defects, often with a reduction in the number of ribs.	Preferred (foundation metadata concept)
A very rare and severe congenital multisystem disorder with the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency. Usually diagnosed in the first years of life. The phenotype is variable but the principal diagnostic features are almost always present at onset or evolve over time. Caused by mutations in the EPG5 gene (18q12.3) which encodes an important autophagy regulator, ectopic P-granules autophagy protein 5 (epg5). Formation of autolysosomes is specifically disturbed by an epg5 deficiency.	Preferred (foundation metadata concept)
A very rare and severe type of NAGA deficiency characterised by infantile neuroaxonal dystrophy.	Preferred (foundation metadata concept)
A very rare association of a Poland anomaly with characteristics of unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles.	Preferred (foundation metadata concept)
A very rare autosomal dominant form of familial hyperinsulinism characterised clinically in the single reported family by postprandial hypoglycaemia, fasting hyperinsulinaemia, an elevated serum insulin-to-C peptide ratio and a variable age of onset.	Preferred (foundation metadata concept)
A very rare autosomal dominant heart-hand syndrome with characteristics of bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis. It has been described in four family members from three generations, with no new cases having been reported since 1981.	Preferred (foundation metadata concept)
A very rare autosomal recessive and slowly progressive neurodegenerative disorder with the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics).	Preferred (foundation metadata concept)
A very rare benign bone disorder with characteristics of bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content. The disease may be underdiagnosed due to confusion with autosomal dominant osteopetrosis. The condition is usually found incidentally on radiological examination and is very mild, sometimes accompanied by pain. Increased density of the vertebral plates, pelvis and occasionally of the upper femur have been reported, as well as kyphoscoliosis and femoral cysts.	Preferred (foundation metadata concept)
A very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis. Less than 50 patients have been reported worldwide. The main clinical features include patellar aplasia or hypoplasia, associated with absent, delayed or irregular ossification of the ischiopubic junctions and/or the infra-acetabular axe-cut notches. Additional features found in the majority of reported patients include femur and foot anomalies. Craniofacial anomalies have been reported occasionally. Inherited in an autosomal dominant manner and is caused by mutations in the human TBX4 gene (chromosome 17q22). TBX4 mutations account for familial cases with a distinctive facial appearance and those without facial features.	Preferred (foundation metadata concept)
A very rare benign inborn error of glycogen metabolism with characteristic of exercise intolerance. The disease starts generally in adolescence or adulthood. Patients may present with exercise intolerance with myalgia, cramps, fatigue, and sometimes myoglobinuria. In some cases, patients may present with progressive muscle weakness. Phosphorylase kinase (PhK) is an enzyme which plays a key role in the regulation of glycogenolysis as it is required for glycogen phosphorylase activation. It consists of four copies of each four subunits (alpha, beta, gamma and calmodulin) encoded by different genes on different chromosomes and differentially expressed in various tissues.	Preferred (foundation metadata concept)
A very rare bone disease reported in two siblings with characteristics of bowed tibia, hypoplastic thumbs, multiple fractures, distinctive facial features and developmental delay. There have been no further descriptions in the literature since 1993.	Preferred (foundation metadata concept)
A very rare bone disorder with clinical characteristics of short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.	Preferred (foundation metadata concept)
A very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained through sporadic pseudohypoparathyroidism type 1b and have paternal UPD20 involving variable segments of the long arm of chromosome 20.	Preferred (foundation metadata concept)
A very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy.	Preferred (foundation metadata concept)
A very rare chromosomal disorder of unknown prevalence characterised by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal.	Preferred (foundation metadata concept)
A very rare chromosomal disorder of unknown prevalence with characteristics of multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. The deletions include 17(q21.3q23), 17(q21.3q24.2), 17(q23.q24.3) and 17(q23.1q24.2).	Preferred (foundation metadata concept)
A very rare circadian rhythm sleep disorder with main features of very early sleep onset and offset possibly resulting in emotional and physical disruptions.	Preferred (foundation metadata concept)
A very rare complex hereditary spastic paraplegia with characteristics of early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported.	Preferred (foundation metadata concept)
A very rare complex ichthyosis syndrome with characteristics of scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. The ichthyosis presents with diffuse white scales sparing the skin folds and is accompanied by scalp hypotrichosis, cicatricial alopecia, and sparse eyelashes/eyebrows. Additional manifestations may include oligodontia, hypodontia and enamel dysplasia. All patients present with neonatal sclerosing cholangitis with jaundice and pruritus, hepatomegaly and biochemical cholestasis. Caused by a mutation in the CLDN1 gene on chromosome 3q28 coding for the tight junction protein claudin-1. Autosomal recessive pattern of inheritance.	Preferred (foundation metadata concept)
A very rare complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (crawling, walking) and has characteristics of lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, and scoliosis and cerebellar abnormalities.	Preferred (foundation metadata concept)
A very rare complex type of hereditary spastic paraplegia with characteristics of early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. Caused by mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A.	Preferred (foundation metadata concept)
A very rare condition characterised by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-haematuria, nephrotic syndrome, renal insufficiency and haematologic malignancy. Aetiopathology is unknown. It may arise spontaneously or be associated with lymphoproliferative disorders, hepatitis C virus infection, leucocytoclastic vasculitis and hypocomplementaemia.	Preferred (foundation metadata concept)
A very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycaemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother.	Preferred (foundation metadata concept)
A very rare condition with characteristics of craniosynostosis and clavicular hypoplasia, delayed closure of the fontanelle, anal anomalies, genitourinary malformations and skin eruptions. It has been described in seven patients from four unrelated families. Cranial abnormalities include a coronal synostosis with wide-open anterior and posterior fontanelles and large parietal foramina. In some patients the skin eruption has been classified as porokeratosis. Sensorineural hearing loss and mild to severe developmental delay are common. The condition is transmitted as an autosomal recessive trait.	Preferred (foundation metadata concept)
A very rare congenital anomaly of the great arteries characterised by the presence of two aortic arches (right and left) which encircle and compress the trachea and oesophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnoea, cyanotic and choking episodes, chronic cough, recurrent respiratory tract infections, dysphagia and reflux). Oesophageal atresia and tracheooesophageal fistula have also been reported. It usually occurs isolated, but, on occasion, may be associated with other congenital heart anomalies and chromosomal aberrations.	Preferred (foundation metadata concept)
A very rare congenital cranial dysinnervation disorder with characteristics of complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.	Preferred (foundation metadata concept)
A very rare congenital distal limb malformation with characteristics of complete bilateral syndactyly involving all digits 1 to 5. So far, only four reports have been described in the literature. A frequent association with polydactyly (with six metacarpals and six digits) has been reported. Feet are affected occasionally. The SD4 locus maps to 7q36. The condition is inherited as an autosomal dominant trait.	Preferred (foundation metadata concept)
A very rare congenital genetic neurological disorder with characteristics of agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders and variable craniofacial and skeletal abnormalities. Most reported families have multiple cases of Temtamy syndrome and almost all affected individuals are from consanguineous unions. The main clinical findings are dysmorphic facies, hypotonia, moderate to severe intellectual disability, intractable seizures and autistic features such as absent language or stereotypy. Motor and cognitive delay usually manifests in early childhood. The pathogenesis of Temtamy syndrome is not known. Various mutations (homozygous, missense, compound heterozygous) in the C12orf57 gene (12p13.31) have been reported in affected patients. Follows an autosomal recessive pattern of inheritance.	Preferred (foundation metadata concept)
A very rare congenital limb malformation with characteristics of postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits. So far, less than ten reports have been described in the literature. Soft tissue syndactyly (involving the third and fourth fingers and the second and third toes) may be present. The locus associated with SD5 maps to 2q31-q32. Mutations in the HOXD13 gene may be causative. The condition is inherited as an autosomal dominant trait.	Preferred (foundation metadata concept)
A very rare congenital malformation characterised by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening haemodynamic collapse. Often associated with other cardiac abnormalities but is mostly an isolated anomaly. It is mostly found in infants and children and occasionally as an incidental finding in adults. Two types are described: fibrous and muscular. The aetiology of congenital cardiac diverticulum is not known. Haemodynamic factors may play a role.	Preferred (foundation metadata concept)
A very rare congenital malformation of the digits with the absence of the middle phalanges (usually of digits two to five), nail dysplasia and duplicated terminal phalanx of the thumb. Has been described in patients from two unrelated families.	Preferred (foundation metadata concept)
A very rare congenital malformation syndrome with characteristics of bilateral hypoplasia of the tibia and polydactyly of the feet and hands. Prevalence is unknown but the syndrome is very rare with only a few case reports described in the literature. Additional findings include a thickened and/or duplicated fibula, hand syndactyly, and triphalangeal thumb. Autosomal dominant inheritance has been reported.	Preferred (foundation metadata concept)
A very rare congenital malformation syndrome with the association of facial and skeletal anomalies, severe intellectual deficit and occasional genitourinary anomalies. The cranio-facial malformations are numerous and variable and include brachycephaly or microbrachycephaly. Other skeletal malformations are also present, with syndactyly of fingers, hypoplastic toes, anomalies of feet structure and fibular hypoplasia. Short stature may be observed. Eye anomalies include bilateral ptosis, cataract and congenital glaucoma. In some male patients, hypospadias and bifid scrotum are reported. Patients suffer from potentially severe intellectual deficit and present with anomalies of the cortical gyration.	Preferred (foundation metadata concept)
A very rare congenital malformation with brachymesophalangy affecting mainly the second and the fifth digit. When the fourth digit is affected, it results in an abnormally shaped middle phalanx, leading to radial deviation of the distal phalanx. Absence of the middle phalanges of the lateral four toes has been reported. Autosomal dominant inheritance is suggested.	Preferred (foundation metadata concept)
A very rare constellation of multiple anomalies including absence or hypoplasia of the tibia. It has been described in 3 siblings (two males and one female). The syndrome has characteristics of the absence or hypoplasia of the tibia, pre and postaxial polydactyly of the hands and/or feet, syndactyly of the toes, shortening and bowing of other long bones, and retrocerebellar arachnoid cyst. Parental consanguinity reported in the family suggests an autosomal recessive pattern of inheritance.	Preferred (foundation metadata concept)
A very rare developmental defect during embryogenesis with characteristics of varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties that may lead to failure to thrive, malnutrition and/or temporomandibular joint ankylosis.	Preferred (foundation metadata concept)
A very rare developmental defect with connective tissue involvement disorder that has characteristics of tall stature, inguinal hernia, facial dysmorphism (including a long, triangular face, prominent forehead, telecanthus, downslanting palpebral fissures, bilateral ptosis, everted lower eyelids, large ears, long nose, full, everted vermilions, narrow and high arched palate, dental crowding), and radiologic evidence of advanced bone age. Additional manifestations include hyperextensible joints, long digits, mild muscle weakness, myopia, and foot deformities (such as hallux valgus, talipes equinovarus).	Preferred (foundation metadata concept)
A very rare disease with characteristics of adult-onset unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.	Preferred (foundation metadata concept)
A very rare disease with onset in childhood of marked delayed motor and cognitive development followed by mild progression of cerebellar ataxia. Prevalence is unknown. Fewer than 20 cases have been reported to date. Although primarily a cerebellar syndrome, dysphagia, urinary urgency and bradykinesia have been described in affected patients older than 50. Mapped to chromosome 19q13.3-q13.4 and is known to be associated with two missense mutations in the KCNC3 gene.	Preferred (foundation metadata concept)
A very rare disease, characterised by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates cerebellar atrophy.	Preferred (foundation metadata concept)
A very rare disorder associating pseudopapilloedema (optic disc swelling not secondary to increased intracranial pressure) mixed hearing loss, facial dysmorphism and limb extremity anomalies. Only 4 cases have been reported in the literature from 3 inbred sibships. The affected patients have no intellectual deficit. Transmitted as an autosomal recessive trait.	Preferred (foundation metadata concept)
A very rare disorder which is probably hereditary. It is not caused by a disorder of disaccharidease activity or by impairment of monosaccharide transport but rather by abnormal permeability of lactose through the gastric mucosa.	Preferred (foundation metadata concept)
A very rare disorder with characteristics of autoimmunity, lymphadenopathy and/or splenomegaly. The prevalence is not known. The disorder has been reported in fewer than 30 patients to date. Age of onset is highly variable, ranging from childhood to young adulthood. A possible increased risk of cancer has been suggested in these patients. The cause is not known but it is thought to be hereditary. Biologically, DALD has characteristics of normal double-negative T-cells (DNTs) and defective in vitro FAS-mediated apoptosis. The pattern of inheritance of DALD is not known.	Preferred (foundation metadata concept)
A very rare disorder with characteristics of intrauterine growth retardation, under-ossification of the skull with large fontanelles, short limbs with absent phalanges and finger and toe syndactyly. Only 4 cases have been reported in the literature in 3 unrelated families. Dysmorphic features include narrow face with small palpebral fissures, small pointed nose, microstomia, micrognathia and low-set and posteriorly rotated ears. A posterior encephalocele and other congenital malformations can be observed. Prognosis is poor.	Preferred (foundation metadata concept)
A very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities and thrombocytopenia. Less than 15 cases have been reported. The spectrum of upper limb defects varies from radial agenesis and phocomelia to amelia. A meningoencephalocele is constant. The intellectual development may be normal. Pathogenesis and cause of this syndrome are unknown. Parental consanguinity reported in a family suggests an autosomal recessive pattern of inheritance.	Preferred (foundation metadata concept)
A very rare disorder, features include microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression.	Preferred (foundation metadata concept)
A very rare dysmorphic disorder with characteristics of hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976.	Preferred (foundation metadata concept)
A very rare dysmorphic syndrome described in two siblings. The syndrome has characteristics of short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears and narrow palpebral fissures with epicanthal folds and intellectual deficit.	Preferred (foundation metadata concept)
A very rare ectodermal dysplasia syndrome with the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails.	Preferred (foundation metadata concept)
A very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterised by the association of hypoparathyroidism, nephropathy, congenital lymphoedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis and nail abnormalities.	Preferred (foundation metadata concept)
A very rare epidermal naevus disorder characterised by the association of speckled lentiginous nevi with epidermal sebaceous nevi and extracutaneous anomalies.	Preferred (foundation metadata concept)
A very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy and iris hypoplasia. There is evidence this syndrome is caused by heterozygous mutation in the MIR184 gene on chromosome 15q25.	Preferred (foundation metadata concept)
A very rare form of PCH with prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death. Has been reported in 10 families to date. Caused by a compound heterozygosity for p.A307S plus non-sense or splice site mutations in the TSEN54 gene. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5. Inherited in an autosomal recessive manner.	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)