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 rare disorder of pentose phosphate metabolism with characteristics of developmental delay and intellectual disability, delayed or absent speech, short stature and congenital heart defects (such as ventricular septal defect, atrial septal defect and patent foramen ovale). Additional reported features include hypotonia, hyperactivity, stereotypic behavior, ophthalmologic abnormalities (bilateral cataract, uveitis, strabismus), hearing impairment and variable facial dysmorphism among others. Laboratory analysis shows elevated plasma and urinary polyols (erythritol, arabitol and ribitol) and urinary sugar-phosphates (ribose-5-phosphate and xylulose/ribulose-5-phosphate).	Preferred (foundation metadata concept)
A rare disorder of plasmalogen biosynthesis with characteristics of syndromic severe intellectual disability with congenital cataracts, early-onset epilepsy, microcephaly, global developmental delay, growth retardation, short stature and spastic quadriparesis. Dysmorphic facial features may be present, including high-arched eyebrows, flattened nasal root, hypertelorism and long and smooth philtrum. Rhizomelia is not part of the syndrome. Cerebellar atrophy, white matter abnormalities and Dandy-Walker malformation have been described on brain imaging.	Preferred (foundation metadata concept)
A rare disorder of porphyrin and heme metabolism characterized by infantile or childhood onset of severe cutaneous photosensitivity in affected males, presenting as tingling, burning, and itching within minutes of light exposure, often accompanied by swelling and redness of the skin. Pain may persist for hours or days after the initial reaction. Some patients show hepatic involvement and gallstone formation. Laboratory examination reveals increased levels of zinc and metal-free protoporphyrin. The phenotype in heterozygous females ranges from asymptomatic to severe.	Preferred (foundation metadata concept)
A rare disorder of pyrimidine metabolism with characteristics of a variable phenotype ranging from absence of symptoms to severe neurological involvement with developmental delay, intellectual disability, and seizures. Additional signs and symptoms may include hypotonia, microcephaly, ocular abnormalities (such as microphthalmia, nystagmus, and strabismus), and autistic behavior, among others. Analysis of urine typically shows high levels of uracil and thymine. Patients are at risk of suffering from severe toxicity after the administration of the anti-neoplastic agent 5-fluorouracil.	Preferred (foundation metadata concept)
A rare disorder of sex development (DSD) characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype. The cause is not elucidated for the majority of cases. A small proportion of individuals have a translocation of a Y chromosome fragment, including the SRY gene, to an X or another chromosome but most individuals (65%) are SRY negative. Some individuals may have a chromosomal mosaicism or a chimerism that results in the presence of Y chromosome containing cells in the gonad. The majority of cases arise as de novo gene variants.	Preferred (foundation metadata concept)
A rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and has characteristics of ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol and low basal and stimulated androgen levels.	Preferred (foundation metadata concept)
A rare disorder of the anterior segment of the eye with characteristics of the presence of an unusually small and spherical lens with increased anteroposterior thickness, and visibility of the lens equator on full mydriasis. The condition is typically bilateral and may be associated with lens dislocation or subluxation, lenticular myopia and secondary angle-closure glaucoma.	Preferred (foundation metadata concept)
A rare disorder of the eye in which the endothelium lining the interior of the cornea proliferates causing unusually high pressure in the eye, distortion of the iris and corneal edema.	Preferred (foundation metadata concept)
A rare disorder that presents as a flat neural placode (at the level of the skin of the back) that is exposed to the environment. The lack of expansion of the subarachnoid space distinguishes this lesion from myelomeningocele.	Preferred (foundation metadata concept)
A rare disorder with characteristics of congenital hypothyroidism, infant respiratory distress syndrome and benign hereditary chorea. Prevalence is unknown but to date about 50 cases have been reported in the literature.The clinical spectrum varies from the complete triad of brain-lung-thyroid syndrome (50%), to brain and thyroid disease (30%), or isolated benign hereditary chorea (13%), which is the mildest expression of the syndrome. In addition, the severity of symptoms varies widely, even in families with the same disease-causing mutation. Brain-lung-thyroid syndrome is caused by mutations in the thyroid transcription factor 1 gene (NKX2-1/TITF1; 14q13.3).	Preferred (foundation metadata concept)
A rare disorder with characteristics of neurological problems and neutropenia. Onset of symptoms is in early childhood and severity varies widely among affected individuals. In the most severely affected individuals, features are apparent in infancy and sometimes at birth. Associated with congenital cataracts or cataracts in infancy. The disease is caused by mutations in the CLPB gene which is likely to reduce or eliminate the amount of functional CLPB protein. The severity of the disease may be related to the amount of functional protein that remains. Inherited in an autosomal recessive pattern.	Preferred (foundation metadata concept)
A rare disorder with characteristics of pseudohypertrophy of muscles due to longstanding hypothyroidism. Prevalence is unknown. The syndrome usually presents between 18 months and 10 years but has been reported at earlier ages including during the neonatal period. Patients present with clinical features of hypothyroidism, including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice. Pseudohypertrophy involves the muscles of the extremities, limb girdle, trunk, hands and feet but is more prominent in the limbs, resulting in an athletic appearance. Hypothyroidism, or thyroid hormone deficiency, may be congenital and may be permanent or transient.	Preferred (foundation metadata concept)
A rare disorder with characteristics of sclerosis of the intrahepatic portal veins, non-cirrhotic portal hypertension, asymptomatic splenomegaly and recurrent variceal bleeding. Most commonly, the condition is detected in investigating a fortuitous finding of hypersplenism or splenomegaly. Main histopathologic findings are periportal fibrosis, occlusion of small portal veins, sclerosis of the portal venous system, and proliferation of small vascular channels within/around portal tracts. The disease is slowly progressive. Exposure to toxic substances or drugs, autoimmune and connective tissue diseases, systemic or intraabdominal infections, and clotting abnormalities have been incriminated. A genetic background has been suggested.	Preferred (foundation metadata concept)
A rare disorder with manifestation of hypo or oligodontia and acanthosis nigricans. It has been described in four generations of one family. Onset generally occurs during adolescence. Some patients are born with multiple teeth. Hair anomalies (sparse body and scalp hair) also reported. Inheritance is autosomal dominant.	Preferred (foundation metadata concept)
A rare disorder with multisystemic involvement and glomerulopathy with characteristics of progressive steroid-resistant nephrotic syndrome typically associated with focal segmental glomerulosclerosis, as well as primary adrenal insufficiency with adrenal calcifications. Age of onset and disease course are variable, with some cases presenting as severe fetal hydrops, while most patients present in infancy or early childhood and progress to end-stage renal disease within a few years. Additional features include ichthyosis, primary hypothyroidism, hypogonadism, immunodeficiency and neurological manifestations (such as cognitive impairment, ataxia, sensorineural hearing loss, or seizures).	Preferred (foundation metadata concept)
A rare distal arthrogryposis syndrome with characteristics of multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature. There is evidence this disease is caused by heterozygous mutation in the MYH3 gene on chromosome 17p13.	Preferred (foundation metadata concept)
A rare distal hereditary motor neuropathy with a variable clinical phenotype and typical characteristics of congenital, non-progressive, predominantly distal lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordosis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfunction are usually also associated.	Preferred (foundation metadata concept)
A rare distal hereditary motor neuropathy with characteristics of slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.	Preferred (foundation metadata concept)
A rare dysostosis syndrome with characteristics of abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It may also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.	Preferred (foundation metadata concept)
A rare dysostosis syndrome with characteristics of vertical median craniofacial clefting of fronto-naso-maxillary structures associated with auriculo-mandibular malformations. The syndrome manifests with highly variable craniofacial features which include hypertelorism, eyelid coloboma, orbital dystopia, epibulbar dermoid, nasal anomalies (for example wide nasal bridge, bifid nose, widely separated, slit-like nares, nasal bone dysplasia), auricular and middle ear dysplasia (microtia, aural stenosis, pre-auricular skin tags/pits), cleft lip/palate, mandibular/maxillary hypoplasia and facial asymmetry. Intracranial abnormalities and extra-craniofacial features are frequently associated.	Preferred (foundation metadata concept)
A rare dystonia with a combination of hemidystonia involving one half of the body and hemiatrophy on the same side. Hemidystonia which is sustained and repetitive muscle contractions resulting in abnormal movements or posture involving a single side of the body is preceded in 90% of cases by hemiparesis with a marked improvement before the onset of hemidystonia. Pyramidal syndrome and seizures may also be observed. The syndrome is associated with ipsilateral somatic atrophy. Common causes are childbirth or perinatal complications, delayed sequelae of stroke or head trauma. This syndrome should be differentiated from other causes of primary dystonia or dystonia secondary to inherited disorders or neurodegenerative diseases.	Preferred (foundation metadata concept)
A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails. Caused by mutations in the collagen VII gene (COL7A1; 3p21.31) that lead to an alteration of function or a reduction in the amount of collagen VII. The molecular defect impairs collagen VII assembly into anchoring fibrils which fix the basement membrane to the underlying dermis, causing reduced skin resistance to minor trauma. Transmission is autosomal dominant.	Preferred (foundation metadata concept)
A rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (including nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.	Preferred (foundation metadata concept)
A rare ectodermal dysplasia syndrome to date described in 8 cases. The syndrome has characteristics of early-onset migratory ichthyosiform dermatosis, bilateral ocular coloboma, conductive hearing loss, seizures, intellectual disability and characteristic facial features. Ears are low-set with thick over-folded helices. Teeth are widely spaced and square in shape. Less constant findings are cleft palate or a less severe equivalent, cardiac defects, pectus excavatum and supernumerary nipples. Caused by mutations in the glycosylphosphatidylinositol gene PIGL located to 17p12-p11.2. Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A rare ectodermal dysplasia syndrome with characteristics of dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985.	Preferred (foundation metadata concept)
A rare ectodermal dysplasia syndrome with characteristics of hypotrichosis, tooth enamel hypoplasia, hypoplastic nails, palmoplantar keratoderma, hyperhidrosis on hands, face, and scalp, bilateral partial cutaneous syndactyly and dysmorphic facial features with large prominent ear pinnae, pointed nose, and thin upper lips. Association of cardiomegaly has also been reported.	Preferred (foundation metadata concept)
A rare ectodermal dysplasia syndrome with characteristics of linear hypopigmentation and hypotrichosis following the lines of Blaschko, symmetric or asymmetric facial dysmorphism and body asymmetry, in association with ocular, dental and acral anomalies. Reported manifestations include microphthalmia, strabismus, myopia, oligodontia, microdontia, conical teeth, abnormal enamel, brachydactyly, syndactyly and broad first toe, as well as dysmorphic facial features such as downslanting palpebral fissures, broad nasal bridge, malar hypoplasia and microstomia. Brain imaging may show cystic leukoencephalopathy and ventricular dilation.	Preferred (foundation metadata concept)
A rare ectodermal dysplasia syndrome with characteristics of tricho and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachycardia or sinus bradycardia.	Preferred (foundation metadata concept)
A rare endocrine disease characterized by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organization), selective absence of pituitary luteinizing hormone in otherwise normal brain and neonatal demise. Patients present with hypogonadotropic hypogonadism, hypoglycemia, seizures, encephalopathy and diabetes insipidus. There have been no further descriptions in the literature since 1988.	Preferred (foundation metadata concept)
A rare endocrine disease characterized by early onset of polycythemia, and later occurring multiple paraganglioma. Clinical presentation includes hypertension, headaches, fatigue, nausea, anxiety and high concentration of red blood cells, leading to increased risk of stroke and pulmonary thromboembolism.	Preferred (foundation metadata concept)
A rare endocrine disease characterized by hyperinsulinemic hypoglycemia associated with the presence of autoantibodies to endogenous insulin without previous exposure to exogenous insulin. Patients usually present in adulthood with postprandial, fasting or exercise-induced hypoglycemia, often with pronounced neuroglycopenic symptoms. Laboratory investigations reveal markedly elevated serum insulin, as well as increased C-peptide and proinsulin. The condition may be associated with other autoimmune diseases, monoclonal gammopathy, and/or recent exposure to certain medications.	Preferred (foundation metadata concept)
A rare endocrine disease characterized by neonatal hypoglycemia, prolonged cholestatic jaundice, and seizures. Typical are low plasma adrenocorticotropic hormone (ACTH) and cortisol levels in the absence of structural pituitary defects. Low partial growth hormone deficiency is sometimes associated.	Preferred (foundation metadata concept)
A rare endocrine disease characterized by severe chronic hypernatremic dehydration caused by decreased intake of water based on impaired thirst perception due to a selective defect in hypothalamic osmoregulation of thirst. Structural hypothalamic lesions are absent and arginine vasopressin secretion is normal.	Preferred (foundation metadata concept)
A rare endocrine disease with characteristics of the appearance of transient hypothyroidism usually in preterm newborns following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid function in term neonates.	Preferred (foundation metadata concept)
A rare endocrine disease with characteristics of the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. There is evidence this disease is caused by heterozygous mutation in the WFS1 gene on chromosome 4p16.	Preferred (foundation metadata concept)
A rare ependymal tumor characterized by the presence of a RELA fusion gene. This supratentorial grade II or III ependymoma most often occurs in children and young adults. Histopathological features are variable, but a distinctive vascular pattern of branching capillaries or clear-cell change are common. Patients may present with focal neurological deficits, seizures, or features of raised intracranial pressure. Prognosis is worse than in other supratentorial ependymomas.	Preferred (foundation metadata concept)
A rare epidermal disease characterized by the association of punctate acrokeratoderma with a pigmentary disorder. Patients present skin-colored keratotic papules on the hands and feet and pronounced hyperkeratosis of the palms and soles. Freckle-like pigmentation on the dorsal surfaces of the hands and feet is also reported. Histological examination reveals no fragmentation of dermal elastic tissue.	Preferred (foundation metadata concept)
A rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome.	Preferred (foundation metadata concept)
A rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that occur in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal or temporofrontal slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity.	Preferred (foundation metadata concept)
A rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or asymmetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits.	Preferred (foundation metadata concept)
A rare epilepsy syndrome with characteristics of recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances.	Preferred (foundation metadata concept)
A rare epithelial carcinoma arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland. The disease has characteristics of nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (for example primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor.	Preferred (foundation metadata concept)
A rare epithelial tumor of pancreas characterized by a solid, nodular mass growing within dilated pancreatic ducts, histologically composed of nodules of back-to-back tubular glands forming large cribriform structures, with high-grade dysplasia and ductal differentiation. There is no overt production of mucin. About half of the tumors occur in the head of the pancreas, one third involve the gland diffusely. Patients present with nonspecific symptoms including abdominal pain, vomiting, weight loss, steatorrhea, and diabetes mellitus, while obstructive jaundice is uncommon. This tumor type accounts for less than 1% of exocrine neoplasms and 3% of intraductal neoplasms of the pancreas.	Preferred (foundation metadata concept)
A rare epithelial tumor of the exocrine pancreas, histologically characterized by presence of keratinization and/or intracellular bridges and lympho vascular and perineural invasion, as well as high metastatic potential. Presents with upper abdominal and back pain, anorexia, weight loss, nausea, vomiting and jaundice.	Preferred (foundation metadata concept)
A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages. To date, mutations in three genes have been demonstrated; KRIT1, CCM2 and PDCD10, located on chromosome 7q21.2, 7p13, and 3q26.1 respectively, which encode proteins that, among their various functions, modulate junction formation between vascular endothelial cells. Transmitted as an autosomal dominant trait with incomplete penetrance.	Preferred (foundation metadata concept)
A rare extraskeletal chondroma located in the head and neck region with typical histological characteristics of lobules of mature, adult hyaline cartilage with chondrocytic cells identifiable in lacunae and prominent fibrosis. Malignant transformation has not been described.	Preferred (foundation metadata concept)
A rare eye tumor characterized by a white, gray or yellow-colored cystic mass that arises from the primitive neuroectodermal, nonpigmented epithelium of the ciliary body, or occasionally from the optic nerve, optic disc, retina or iris. Typically it has a benign clinical course with good prognosis and generally presents with childhood onset of poor vision and pain, glaucoma, and/or cataract. Leukocoria, exotropia, exophthalmos, strabismus, epiphora, change in eye color, hyphema and raised intraocular pressure are also remarkable manifestations.	Preferred (foundation metadata concept)
A rare familial dilated cardiomyopathy with characteristics of left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase.	Preferred (foundation metadata concept)
A rare familial partial lipodystrophy with characteristics of adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.	Preferred (foundation metadata concept)
A rare familial partial lipodystrophy with characteristics of adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasma, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axilla and neck, hirsutism, and muscular hypertrophy of the lower limbs. Caused by heterozygous mutation in the PPARG gene on chromosome 3p25.	Preferred (foundation metadata concept)
A rare familial partial lipodystrophy with characteristics of severe partial lipoatrophy affecting the limbs, trunk, and abdomen, together with faciocervical fat accumulation. Additional manifestations include diabetes, acanthosis nigricans, liver steatosis and hypertriglyceridemia, as well as low serum leptin and adiponectin levels. Severe cardiac rhythm and conduction disturbances have also been reported.	Preferred (foundation metadata concept)
A rare familial skeletal dysplasia with characteristics of multiple epiphyseal dysplasia with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family. A mutation in PTHR1 gene is responsible for this syndrome. Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A rare fatal amyloid disease in young people caused by a mutation in cystatin C. This condition predisposes towards intracerebral hemorrhage and dementia and is inherited in a dominant pattern.	Preferred (foundation metadata concept)
A rare fatal inborn error of metabolism disorder with characteristics of respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic facies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34.	Preferred (foundation metadata concept)
A rare fibro-osseous lesion of the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Multiple dense lobulated bone lesions often symmetrical are located in various regions of the jaw and can be seen on radiological examination.	Preferred (foundation metadata concept)
A rare flea-borne Rickettsial disease caused by a Rickettsia felis infection. Patients can be asymptomatic or can present with unspecific symptoms such as fever, headache, generalized maculopapular rash, myalgia, arthralgia and, occasionally eschar, lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain. Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss and signs of meningitis) and pulmonary compromise.	Preferred (foundation metadata concept)
A rare focal skeletal dysostosis with characteristics of symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis. Approximately 10 patients have been reported so far. Additional skeletal abnormalities may include hypoplasia of the clavicles, ribs, femora and fibula, together with spina bifida and prominent lumbar lordosis. Eye anomalies (coloboma of iris and retina) have occasionally been reported. Intelligence is described as normal. Pelvis-shoulder dysplasia seems to be a genetically heterogeneous disorder but no causative genes have been identified so far.	Preferred (foundation metadata concept)
A rare form of PCH with clinical manifestation neonatally of hypotonia and impaired swallowing and from infancy onward seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3. To date, PCH3 is reported in only 3 families. In 2 families, an implication of locus 7q11-21 has been demonstrated. PCH3 is inherited in an autosomal recessive manner.	Preferred (foundation metadata concept)
A rare form of axonal Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy with characteristics of a mild phenotype, onset during the second decade of life and very slow progression. Walking ability is retained. Caused by mutations in the GDAP1 gene (8q13.3), encoding a protein required for mitochondrial fission.	Preferred (foundation metadata concept)
A rare form of axonal peripheral sensorimotor neuropathy with characteristics of classical Charcot-Marie-Tooth type 2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms.	Preferred (foundation metadata concept)
A rare form of combined immunodeficiency with characteristics of microcephaly, growth retardation and T and B cell lymphopenia. Patients present in childhood with growth retardation, microcephaly, urogenital and bone malformations, dysmorphic features, including bird-like facial dysmorphism, and features of combined immunodeficiency. Some patients may also present with autoimmune cytopenia. This disease is caused by mutations in the NHEJ1 (or Cernunos) gene (2q35). The resulting defect of Cernunnos/XLF, a core protein of the non-homologous end-joining (NHEJ) pathway, affects the major mechanism of DNA double-strand break repair. Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsarcolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated.	Preferred (foundation metadata concept)
A rare form of diffuse large B-cell lymphoma occurring most commonly in patients over the age of 50 (usually between 70-75 years of age), without overt immunodeficiency, and presenting with nodal and extranodal involvement (in sites such as the stomach, lung, skin and pancreas) and B symptoms (fever, night sweats, weight loss). The tumor is characterized by an aggressive course and a short survival rate.	Preferred (foundation metadata concept)
A rare form of genetic lipodystrophy with loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance. Inherited in an autosomal dominant manner.	Preferred (foundation metadata concept)
A rare form of hereditary optic atrophy seen in only 4 families to date. With onset in early childhood the disease has characteristics of progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.	Preferred (foundation metadata concept)
A rare form of hereditary spastic paraplegia with characteristics of childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging.	Preferred (foundation metadata concept)
A rare form of hereditary spastic paraplegia with characteristics of delayed walking, toe walking, unsteady and spastic gait, hyperreflexia of the lower limbs, and extensor plantar responses. Upper limbs spasticity and dystonia, subclinical axonal neuropathy, cognitive impairment and intellectual disability have also been associated. Caused by homozygous or compound heterozygous mutation in the CYP2U1 gene on chromosome 4q25.	Preferred (foundation metadata concept)
A rare form of idiopathic inflammatory myopathy with clinical manifestation of acute or subacute proximal muscle weakness and histopathological features of myocyte necrosis and regeneration without significant inflammation. The main presenting feature is subacute severe symmetrical proximal myopathy with a markedly elevated creatine kinase level. The course is often severe but may be self-limiting and recovery may occur within weeks to months of discontinuing the causative agent, if identified. The disease is thought to be related to an immune response possibly triggered by drug therapy, connective tissue diseases, or cancer. The exact mechanism underling the disorder is not known but some autoantibodies appear to be a likely cause. Malignancy may be involved.	Preferred (foundation metadata concept)
A rare form of localized hypertrichosis characterized by hair growth near the laryngeal prominence during childhood. This isolated anomaly has been described in around 20 individuals. Transmission may be autosomal recessive or dominant with variable penetrance.	Preferred (foundation metadata concept)
A rare form of localized lichen myxedematosus characterized by the development of skin-colored mucinous nodules on the limbs and trunk, with mild or absent papular eruption.	Preferred (foundation metadata concept)
A rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non or slowly progressive), associated with spheroid body inclusions (composed of myofilament material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations.	Preferred (foundation metadata concept)
A rare form of neurodegeneration with brain iron accumulation (NBIA) with characteristics of early-onset developmental delay and further neurological deterioration in early adulthood. Caused by de novo heterozygous or hemizygous mutation in the WDR45 gene on chromosome Xp11.	Preferred (foundation metadata concept)
A rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported.	Preferred (foundation metadata concept)
A rare form of pontocerebellar hypoplasia with characteristics at birth of hypotonia, clonus, epilepsy, impaired swallowing and from infancy progressive microcephaly, spasticity and lactic acidosis. Reported in less than 10 cases to date. Caused by missense and splice site mutations in the mitochondrial arginyl-transfer RNA synthetase (RARS2) gene located to 6q16.1. Prognosis is poor, exact life expectancy is unknown but in most cases does not exceed infancy.	Preferred (foundation metadata concept)
A rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually become generalized. The prevalence is unknown but it is one of the rarest forms of porokeratosis. The disease is more frequently seen in males. The exact etiology is unknown. A possible locus for PPPD has been found on chromosome 12q24.1-24.2. Usually follows a dominant (autosomal or X-linked) pattern of inheritance.	Preferred (foundation metadata concept)
A rare form of primary cutaneous T-cell lymphoma characterized by rapidly progressing localized or disseminated nodules, tumors or eczematous skin lesions. It has a particularly aggressive clinical course with a high tendency to spread, in advanced stages, to extracutaneous locations (central nervous system, lung, testes). Lymph nodes are often spared.	Preferred (foundation metadata concept)
A rare form of pseudohyperaldosteronism with characteristics of very early-onset and severe hypertension associated with low renin levels and hypoaldosteronism. Caused by homozygous or compound heterozygous loss-of-function mutations or deletions in the HSD11B2 gene (16q22). In all cases, these mutations lead to abolition or a marked decrease in the activity of 11-beta-hydroxysteroid dehydrogenase type 2 (11-beta-HSD2), an enzyme involved in the conversion of cortisol to cortisone. Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A rare form of spinal muscular atrophy with characteristics of the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. Patients have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.	Preferred (foundation metadata concept)
A rare form of superficial corneal dystrophy with recurrent episodes of epithelial erosions from childhood in the absence of associated diseases. The erosions begin spontaneously or are precipitated by minor trauma, dust or smoke. The condition may become apparent by 6 months of age, but as a rule it only starts at 4 to 6 years of age. Most patients have attacks of redness, photophobia, epiphora, and ocular pain. Some experience a burning sensation and report sensitive eyes for years. Vision is sometimes impaired. Autosomal dominant pattern of inheritance.	Preferred (foundation metadata concept)
A rare frontonasal dysplasia malformation syndrome with characteristics of an oxycephalic skull with craniosynostosis, wide nose with anteverted nostrils, hirsutism at base of nose, agenesis of the nasolacrimal ducts and bilateral symmetrical nasolabial cysts on upper lip. Additional features may include hypertelorism. There have been no further descriptions in the literature since 1991.	Preferred (foundation metadata concept)
A rare frontonasal dysplasia with characteristics of a craniofacial phenotype comprising frontal bossing with high anterior hairline, ptosis, hypertelorism, epicanthus inversus, flat nasal bridge and broad nasal tip. Large anterior fontanel, sagittal synostosis, and cranial base anomalies have also been described.	Preferred (foundation metadata concept)
A rare functional disorder with recurrent episodes of torticollis posturing of the head (inclination or tilting of the head to one side) in healthy children. The prevalence is unknown and the benign nature of the disorder probably means that it is under reported. Onset occurs within the first year of life with episodes occurring between every few weeks and every few months. The duration of the torticollis varies between patients, but usually lasts from a few hours to a few days. The frequency and duration of the torticollis episodes decrease as the patient gets older and episodes usually stop completely by 5 years of age. The disorder usually occurs sporadically, but familial occurrence has been reported.	Preferred (foundation metadata concept)
A rare functional neutrophil defect characterized by increased susceptibility to aggressive periodontitis in otherwise young, healthy individuals, due to impaired polymorphonuclear leukocyte chemotaxis toward bacterial formyl peptides. The periodontitis is rapidly progressive with progredient destruction of periodontal tissue and attachment loss.	Preferred (foundation metadata concept)
A rare functioning neuroendocrine tumor of pancreas characterized by a typically well-differentiated neoplasm composed of cells expressing serotonin. Patients may present with atypical carcinoid syndrome with abdominal pain, diarrhea, weight loss, and/or flushing. Carcinoid syndrome is usually present only when there are liver metastases. The tumors tend to be larger than non-functioning tumors and are associated with a poorer prognosis because they are almost always metastatic.	Preferred (foundation metadata concept)
A rare gastroenterologic disease characterized by the histopathological finding of a thickened gastric subepithelial collagen layer in association with an inflammatory infiltrate in the lamina propria. Patients typically present with upper abdominal pain and severe iron deficiency anemia. The condition is not commonly associated with autoimmune diseases, and involvement of the colon is less frequent than in the adult form. The disease takes a generally benign course with limited long-term morbidity and no increased mortality.	Preferred (foundation metadata concept)
A rare gastroenterologic disease characterized by typical clinical, endoscopic and histological features of eosinophilic esophagitis (symptomatic esophageal dysfunction associated with eosinophil-predominant mucose infiltrate), which completely remits upon proton pump inhibitor therapy.	Preferred (foundation metadata concept)
A rare gastroesophageal disease characterized by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anemia, abdominal pain not related to eating or bowel habits and absence of peripheral edema.	Preferred (foundation metadata concept)
A rare generally benign lymphoproliferative hematological disease characterized by chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly.	Preferred (foundation metadata concept)
A rare genetic T cell negative B cell negative severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial microorganisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins, some patients may have eosinophilia.	Preferred (foundation metadata concept)
A rare genetic X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features. Caused by hemizygous mutation in the NSDHL gene on chromosome Xq28.	Preferred (foundation metadata concept)
A rare genetic X-linked syndromic intellectual disability disorder with characteristics of moderate to severe intellectual disability associated with epilepsy, short stature, autistic features and behavioral problems, such as self- injury and aggressive outbursts. Observed facial dysmorphism includes brachycephaly, prominent supraorbital ridges, and deep-set eyes. Additional variable manifestations include malposition of feet, asthenic habitus, hyporeflexia, bowel occlusions, hydronephrosis, horseshoe kidney, delayed motor development and disturbed sleep-wake cycle. Caused by mutation in the GRIA3 gene.	Preferred (foundation metadata concept)
A rare genetic adrenal disease with characteristics of diminished corticosteroid-binding capacity associated with normal or low plasma corticosteroid-binding globulin concentration and reduced total plasma cortisol levels. Patients typically present chronic pain, fatigue and hypo/hypertension. Can be caused by heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32.	Preferred (foundation metadata concept)
A rare genetic adrenal disorder with characteristics of congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.	Preferred (foundation metadata concept)
A rare genetic aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (such as aortic dilation, aortic aneurysm and/or dissection).	Preferred (foundation metadata concept)
A rare genetic autoinflammatory syndrome with immune deficiency disease characterized by recurrent and severe flares of generalized pustular psoriasis associated with high fever, asthenia and systemic inflammation due to IL36R antagonist deficiency. Psoriatic nail changes (for example pitting and onychomadesis) and ichthyosis may occasionally be associated.	Preferred (foundation metadata concept)
A rare genetic autosomal dominant hereditary axonal motor and sensory neuropathy disorder with characteristics of childhood-onset palmoplantar keratoderma associated with motor and sensory polyneuropathy manifesting with late-onset, predominantly distal, lower limb muscle weakness and atrophy (later associating mild proximal weakness and upper limb involvement), moderate sensory impairment and normal or near normal nerve conduction velocities. Additional variable manifestations include impaired vibratory sensation, reduced tendon reflexes, pain, talipes equinovarus, pes cavus and nail dystrophy.	Preferred (foundation metadata concept)
A rare genetic autosomal dominant spastic ataxia disorder with characteristics of lower-limb spasticity and ataxia in the form of head jerks, ocular movement abnormalities, dysarthria, dysphagia and gait disturbances. Caused by heterozygous mutation in the VAMP1 gene on chromosome 12p13.	Preferred (foundation metadata concept)
A rare genetic autosomal recessive axonal hereditary motor and sensory neuropathy disease with characteristics of prenatal onset of a severe sensorimotor axonal polyneuropathy reflected by reduced fetal movement and polyhydramnios. The disease manifests at birth with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness and absent deep tendon reflexes in the absence of contractures leading to death before 8 months of age. Neuropathological findings show severe loss of large and medium sized myelinated fibers without signs of demyelination.	Preferred (foundation metadata concept)
A rare genetic autosomal recessive cerebellar ataxia disease with characteristics of adulthood-onset of slowly progressive spinocerebellar ataxia, manifesting with gait and appendicular ataxia, dysarthria, ocular movement anomalies (for example horizontal, vertical, and/or downbeat nystagmus, hypermetric saccades), increased deep tendon reflexes and progressive cognitive decline. Additional variable features may include proximal leg muscle wasting and fasciculations, pes cavus, inspiratory stridor, epilepsy, retinal degeneration and cataracts. Brain imaging reveals marked cerebellar atrophy and electromyography shows evidence of lower motor neuron involvement. Caused by homozygous or compound heterozygous mutation in the ANO10 gene on chromosome 3p22.	Preferred (foundation metadata concept)
A rare genetic autosomal recessive cerebellar ataxia disease with characteristics of nonprogressive cerebellar ataxia, with onset in infancy, manifesting with delayed motor and speech development, gait ataxia, dysmetria, hypotonia, increased deep tendon reflexes and dysarthria. Additional variable manifestations include moderate nystagmus on lateral gaze, mild spasticity, intention tremor, short stature and pes planus. Brain imaging reveals cerebellar vermis atrophy.	Preferred (foundation metadata concept)
A rare genetic autosomal recessive cerebellar ataxia disease with characteristics of slowly progressive spinocerebellar ataxia developing during childhood, manifesting with gait and limb ataxia, postural tremor, dysarthria, sensory alterations (for example decreased vibration sense), eye movement anomalies (such as nystagmus, saccadic pursuit, oculomotor apraxia), upper and lower limb fasciculations and hyperreflexia with Babinski signs. Brain imaging reveals cerebellar, pontine, vermian and medullar atrophy. There is evidence the disease is caused by compound heterozygous mutation in the TPP1 gene on chromosome 11p15.	Preferred (foundation metadata concept)

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Reference Sets

Reference set descriptor

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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)