900000000000509007: United States of America 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)\US 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
US 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 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 characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations. Prenatal androgen excess is responsible for severe virilization of external genitalia in girls and undervirilization 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 behavior.	Preferred (foundation metadata concept)
A variant of lichen planopilaris characterized 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 center 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. Etiology is unknown.	Preferred (foundation metadata concept)
A variant of neurofibromatosis type 1 characterized 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 vegetarian diet that excludes all animal-based foods and animal-based food and ingredients.	Preferred (foundation metadata concept)
A vegetarian diet that includes egg and excludes other animal-based food and ingredients.	Preferred (foundation metadata concept)
A vegetarian diet that includes fish and seafood, egg, and mammalian milk-based food and excludes all other animal-based protein food and ingredients.	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 characterized 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 edema, 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 characterized by intellectual disability, truncal obesity, gynecomastia, 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, characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.	Preferred (foundation metadata concept)
A very rare aggressive form of systemic mastocytosis characterized 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, diarrhea, tachycardia), weight loss, anorexia and hepatosplenomegaly or less frequently cutaneous mastocytosis. Gastroduodenal ulcers (often complicated by hemorrhage), 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 dyspnea, 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 tumor 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 characterized 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 characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, 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 anomaly with characteristics of intrauterine and postnatal growth retardation, short stature, developmental delay, learning difficulties, hearing loss, hypermetropia and a recognisable facial dysmorphism including prominent forehead, long myopathic facies, fine eyebrows, small mouth and micrognathia.	Preferred (foundation metadata concept)
A very rare chromosomal disorder of unknown prevalence characterized 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 characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. Etiopathology is unknown. It may arise spontaneously or be associated with lymphoproliferative disorders, hepatitis C virus infection, leukocytoclastic vasculitis and hypocomplementemia.	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 hypoglycemia, 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 characterized by the presence of two aortic arches (right and left) which encircle and compress the trachea and esophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnea, cyanotic and choking episodes, chronic cough, recurrent respiratory tract infections, dysphagia and reflux). Esophageal atresia and tracheoesophageal 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 characterized 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 hemodynamic 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 etiology of congenital cardiac diverticulum is not known. Hemodynamic 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 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, characterized 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 pseudopapilledema (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 belonging to the heterogeneous group of genetic fibromatoses and with characteristics of progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid and adrenal glands. Caused by mutations in anthrax toxin receptor 2 gene (ANTRX2) on chromosome 4q21. 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, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis and nail abnormalities.	Preferred (foundation metadata concept)
A very rare epidermal nevus disorder characterized 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)
A very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia. The syndrome has characteristics of normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals and unilateral cleft lip.	Preferred (foundation metadata concept)
A very rare form of acrofacial dysostosis, reported in two sisters to date, with characteristics of short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.	Preferred (foundation metadata concept)
A very rare form of familial partial lipodystrophy of unknown etiology characterized by loss of adipose tissue that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated	Preferred (foundation metadata concept)
A very rare form of focal palmoplantar keratoderma with characteristics of painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial and lingual attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement.	Preferred (foundation metadata concept)
A very rare form of hereditary episodic ataxia with characteristics of late-onset episodic ataxia, recurrent attacks of vertigo and diplopia.	Preferred (foundation metadata concept)
A very rare form of hereditary episodic ataxia with characteristics of vestibular ataxia, vertigo, tinnitus and interictal myokymia.	Preferred (foundation metadata concept)
A very rare form of multiple endocrine neoplasia, an inherited cancer syndrome, with parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors. Caused by heterozygous inactivating mutations in the CDKN1B gene (12p13.1-p12) encoding p27, a cyclin-dependent kinase inhibitor that acts as a negative regulator of cell cycle progression. Most cases are the result of autosomal dominant inheritance. Some cases of sporadic de novo occurrence are however reported.	Preferred (foundation metadata concept)
A very rare form of stromal corneal dystrophy with characteristics of irregular amorphous sheet-like opacities in the posterior corneal stroma and in the Descemet membrane along with mildly impaired vision. Prevalence of this form of corneal dystrophy is not known. To date cases have been reported primarily in the USA. Patients usually develop corneal abnormalities in infancy or childhood. The condition is non-progressive or slowly progressive. Unlike other corneal dystrophies, non-corneal manifestations have been observed and include abnormalities of the iris including iridocorneal adhesions, corectopia, and pseudopolycoria. An autosomal dominant pattern of inheritance has been reported.	Preferred (foundation metadata concept)
A very rare form of superficial corneal dystrophy with characteristics of feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision. Exact prevalence of this form of corneal dystrophy is not known but very few cases have been reported to date. Lesions generally develop in childhood. Epithelial opacities are slowly progressive and painless blurred vision sometimes occurs after 60 years of age. The exact cause is unknown but appears to be genetic. The gene related to Lisch epithelial corneal dystrophy has been mapped to the short arm of the X chromosome (Xp22.3).	Preferred (foundation metadata concept)
A very rare form of superficial corneal dystrophy with characteristics of frequent recurrent corneal erosions in the first decade of life and progressive loss of vision. The condition has only been reported in one single family. Painful episodes of recurrent corneal erosions occur in the first decade of life but decrease during adolescence. Later in life, patients are reported to develop subepithelial opacities and a corneal haze. The disease eventually progresses over time leading to corneal opacities and loss of vision. The gene related to this disease has not been mapped to a particular chromosomal locus.	Preferred (foundation metadata concept)
A very rare genetic bone disorder with characteristics of ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.	Preferred (foundation metadata concept)
A very rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD) characterized by hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels. Symptoms are the classical symptoms of hyponatremic encephalopathy such as nausea, vomiting, dizziness and gait disturbances. Caused by a gain of function mutation in the type 2 AVP receptor (AVPR2) gene (location Xq28). This mutation leads to constant activation of the AVPR2 receptor on renal collecting duct cells, which causes an increase in free water reabsorption and an increase in urine concentration. An X-linked disorder affecting mainly males with females often being asymptomatic carriers.	Preferred (foundation metadata concept)
A very rare genetic disorder with characteristics of the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate and severe joint contractures. Less than 20 cases have been reported in the literature. The fingers are thin with absent knuckles and reduced creases over the joints and patients show an inability to make a full fist. Additional findings may include deformed ears, ptosis, an inability to open the mouth fully, heart defects, and clubfoot. There are currently no human genes associated with this disease.	Preferred (foundation metadata concept)
A very rare genetic disorder with clinical characteristics of elevated serum bile acid concentrations, itching and fat malabsorption reported in patients of Old Order Amish descent. Can be caused by mutation in the TJP2 gene on chromosome 9q21, the BAAT gene on chromosome 9q31, or the EPHX1 gene on chromosome 1q42.	Preferred (foundation metadata concept)
A very rare genetic malformation syndrome with characteristics of upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances and congenital bilateral non-progressive mixed hearing loss. Prevalence is not known. To date, four affected families from Venezuela, Italy, Hungary, and Turkey (discordant monozygotic twins) have been described. The syndrome has been linked to mutations in the SALL4 gene (20q13.2) encoding a transcription factor. Inherited in an autosomal dominant manner.	Preferred (foundation metadata concept)
A very rare genetic overgrowth/obesity syndrome with characteristics of macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.	Preferred (foundation metadata concept)
A very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date. The disease has manifestations of adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet.	Preferred (foundation metadata concept)
A very rare gonadotropin-independent familial form of male-limited precocious puberty generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height. Caused by an activating mutation of the Lutropin-Choriogonadotropic Hormone Receptor gene (LHCGR, 2p21) which leads to increased levels of sex steroids in the context of low luteinizing hormone. This receptor's chronic activation leads to precocious testosterone production by Leydig cells. No effect is observed in female carriers due to the dual luteinizing hormone (LH)/ follicle stimulating hormone (FSH) signal necessary to promote ovarian stimulation. Transmission is autosomal dominant. Mothers may act as silent carriers, with each son having a 50% chance of displaying this disorder.	Preferred (foundation metadata concept)
A very rare heart-hand syndrome that has characteristics of a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant although X-linked dominance could not be excluded.	Preferred (foundation metadata concept)
A very rare hepatic and biliary tract neoplasm with a growth pattern resembling that found in hepatocellular carcinomas and cholangiocarcinomas but presenting atypical histological and immunohistochemical features (such as trabecular, organoid, microcystic and/or blastemal-like architecture and inhibin A, cytokeratin 7 and/or cytokeratin 19 positivity) that do not allow a formal diagnosis of the more common aforementioned liver cancers. Patients may present abdominal distension and pain, a palpable abdominal mass and elevated liver enzymes.	Preferred (foundation metadata concept)

Start Previous Page 170 of 12891 Next End

Reference Sets

Reference set descriptor

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
900000000001115012	United States of America 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)
900000000001116013	US English	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)
900000000001117016	United States of America 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)