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900000000000509007: United States of America English language reference set (foundation metadata concept)


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:

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)


1289036 members. Search Members:

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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 neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Associated with mutations in the superoxide dismutase-1 gene (SOD1) on chromosome 21q22. Preferred (foundation metadata concept)
A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Associated with the ALS3 gene on the cytogenetic location 18q21. Preferred (foundation metadata concept)
A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Caused by heterozygous mutation in the FUS gene on chromosome 16p11. Preferred (foundation metadata concept)
A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Caused by heterozygous mutation in the VAPB gene on chromosome 20q13. Preferred (foundation metadata concept)
A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Caused by heterozygous mutation in the angiogenin gene (ANG) on chromosome 14q11. Preferred (foundation metadata concept)
A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Cytogenetic location is 20p13. Preferred (foundation metadata concept)
A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. There is evidence this disease is caused by heterozygous mutation in the TARDBP gene that encodes the TDP43 protein on chromosome 1p36. Preferred (foundation metadata concept)
A neurodegenerative disorder with progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. Manifestations that present in infancy and early childhood include muscle weakness, wasting, hypotonia, poor feeding, failure to thrive and loss of motor milestones. Inherited autosomal dominantly. The prognosis depends on the age of symptom onset. An earlier onset is associated with a more severe and rapidly progressive disease. Preferred (foundation metadata concept)
A neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfil all the diagnostic criteria for typical Rett syndrome. Several subvariants have been defined; the early-onset seizure type (Hanefeld), congenital variant (Rolando), the 'forme fruste' type, the late childhood regression form and the preserved speech variant (PSD or Zappella variant). Diagnosis relies on clinical evaluation using the diagnostic criteria for atypical Rett originally defined by Hagberg in 1994: an atypical case must meet at least three of the six main criteria and at least five of the eleven supportive criteria. Preferred (foundation metadata concept)
A neurodevelopmental disorder with characteristics of global developmental delay, impaired intellectual development and delayed speech. Other variable features include macrocephaly, characteristic facial features, prominent forehead, hypertelorism, hypotonia and joint laxity. The syndrome is inherited in an autosomal dominant manner with evidence the disease is caused by heterozygous mutation in the CHD3 gene on chromosome 17p13. Preferred (foundation metadata concept)
A neurological disorder with characteristics of moderate to severe developmental delay and intellectual disability and mild dysmorphic features. Early symptoms include hypotonia, delayed development of motor skills, speech delay, hypertelorism, broad nasal bridge, and fingers with tapered ends. Other features include microcephaly, seizures, recurrent ear infections, strabismus, amblyopia and hyperopia. Behavioral problems such as hyperactivity, attention deficit disorder, aggression, anxiety and autism spectrum occur in some cases. Caused by mutations in the HIVEP2 gene leading to a shortage of functional HIVEP2 protein. Inherited in an autosomal dominant pattern however most cases of this condition result from de novo mutations in the gene. Preferred (foundation metadata concept)
A neurological disorder with characteristics of moderate to severe developmental delay and intellectual disability. Additional manifestations may include hypotonia, delayed development of motor skills, delayed speech development, recurrent seizures, autism spectrum disorder, macrocephaly and unusual facial features including frontal bossing, hypertelorism and downslanting palpebral fissures. Caused by mutations in the PPP2R5D gene, which provides instructions for making B56-delta resulting in the production of an altered B56 protein. Inherited in an autosomal dominant pattern however most cases of this condition result from de novo gene mutation. Preferred (foundation metadata concept)
A neurological disorder with characteristics of moderate to severe intellectual disability that is evident in early childhood. Early manifestations include delayed development of speech and motor skills, hypotonia, developmental regression, recurrent epilepsy, hyperactivity and autism spectrum disorder. Caused by mutations in the SYNGAP1 gene preventing the production of functional SynGAP protein from one copy of the gene which results in reduced protein activity in cells. May be inherited in an autosomal dominant manner or as a new mutation in the gene. Preferred (foundation metadata concept)
A neuromuscular disease with characteristics of progressive symmetric muscle weakness of anterior upper and posterior lower limbs. It has been described in several members of an Australian and an Italian family. The disease usually manifests during the third decade of life with thenar muscle weakness resulting in reduced grip strength. The disease is slowly progressive and generally proceeds with calf muscle weakness appearing during the fourth decade and proximal muscles becoming perceptibly affected in the fifth decade. The disease is due to mutations on the actin-binding domain of the FLNC gene that encodes filamin C, a muscle specific filamin that is also associated with myofibrillar myopathy when mutations affect other parts of the protein. The disease mechanism seems to be linked to an increased actin-binding affinity of filamin C. Preferred (foundation metadata concept)
A neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia. Reported exclusively in Native American Indians (Lumbee Indian population of North Carolina). Within this population, the prevalence is estimated at approximately 1:5,000. The locus has been localized to 12q13.13-14.1. The disease is transmitted in an autosomal recessive manner. Preferred (foundation metadata concept)
A new form of skeletal dysplasia with manifestations of severe short stature, facial dysmorphism and characteristic radiographic findings. To date, three cases have been described, all originating from the same family. The disease results from a missense mutation affecting the C-type lectin domain of aggrecan (AGC1 gene; chromosome 15) which regulates endochondral ossification. Transmission is autosomal recessive. Preferred (foundation metadata concept)
A new narcotic or psychotropic drug that is not controlled by the United Nations drug conventions, but which may pose a public health threat comparable to that posed by substances listed in these conventions. Preferred (foundation metadata concept)
A newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations. Eight cases have been reported to date. The most common facial features include eye anomalies: strabismus, deeply set eyes, and epicanthic folds and ear anomalies such as over-folded helices and low-set ears. Reported patients have deletions of variable size. The critical region for the 6p22 deletion phenotype is 2.2 Mb and encompasses 12 genes; their function is still largely unknown. Preferred (foundation metadata concept)
A newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia. It has been reported in four unrelated patients. The most common facial features include microcephaly, hypertelorism and thin upper lip. An abnormal corpus callosum (agenesis, hypogenesis or slightly reduced thickness) is observed in all affected patients. Preferred (foundation metadata concept)
A newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech. It has been reported in nine unrelated patients. The most common facial feature includes high or broad forehead, hypertelorism and short philtrum. Short hands and feet are frequently observed. The microdeletion critical region encompasses two candidate genes, PRKG2 and RASGEF1B, in which haploinsufficiency could participate to the phenotype. Preferred (foundation metadata concept)
A newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. It has been reported in 6 patients to date. Facial dysmorphism includes brachycephaly, anteverted nares and ear malformations. Cardiac defects and abnormal behavior characterized by auto and hetero-aggressivity and hyperactivity can be observed. This interstitial microdeletion was identified by comparative genomic hybridization microarray and its size is variable. Preferred (foundation metadata concept)
A newly described variant of Ehlers-Danlos syndrome (EDS). Affected patients exhibit features consistent with EDS, including joint hypermobility, skin fragility and aortic dilatation. They also have periventricular heterotopia, which has characteristics of focal epilepsy usually beginning in the second decade of life. Intelligence is generally normal. Some patients also have cardiac anomalies such as patent ductus arteriosus, bicuspid aortic valves, or aneurysmal dilatation of the sinus of Valsalva. Caused by mutations in the filamin A gene (FLNA) located at locus Xq28 on the long arm of chromosome X. This suggests a novel cause of EDS. The disease is transmitted as an X-linked dominant trait. Preferred (foundation metadata concept)
A newly discovered form of congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth. Only 4 cases have been reported to date. Hepatomegaly, splenomegaly, jaundice, hypertrophic cardiomyopathy, and occasional dysmorphic features have also been reported. Caused by mutations in the KLF1 gene (19p13.2), encoding an erythroid transcription factor that plays a fundamental role in the expression of globin genes and also additional genes that may be involved in erythropoiesis. Inherited in an autosomal dominant manner. Preferred (foundation metadata concept)
A non-medical person who stays with and assists a woman before, during, or after childbirth. Preferred (foundation metadata concept)
A non-neoplastic lesion that occurs in response to injury, including previous surgery. Preferred (foundation metadata concept)
A non-sterile electrical conductor designed to be applied to an adult patient for automatic or manual defibrillation, external pacing, cardioversion, and electrocardiographic monitoring through transmission of cardiac bioelectric signals (typically from the thoracic surface) to devices that record/process the signals and potentially return electrical impulses [e.g. electrocardiograph, electrocardiographic monitor(s), defibrillator]. It is a disk-like electrode that is affixed to the skin with a special adhesive and a conductive gel (pre-gelled). It may be made of x-ray translucent materials and may include permanently attached lead wires. Preferred (foundation metadata concept)
A non-sterile, urine drainage device for men that typically consists of a flexible tube attached to a condom-like sheath. The sheath is fitted over the penis to channel urine, via the tube, into a collection bag. Preferred (foundation metadata concept)
A non-syndromic form of craniosynostosis with characteristics of the premature fusion of the metopic suture. The premature closure of the metopic suture results in deformation of the anterior portion of the calvarium and a triangular-shaped forehead. The underlying genetic cause of isolated trigonocephaly remains to be delineated. Most cases are sporadic but familial forms with apparently autosomal dominant transmission have been reported. Preferred (foundation metadata concept)
A non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin. To date, fewer than 30 unrelated genetically characterized individuals have been reported. Clinical features are those of anemia and iron overload and include pallor, fatigue, weakness, breathlessness, splenomegaly, hyperglycemia, glucose intolerance and skin hyperpigmentation. Patients need blood transfusions to survive and do not respond to treatment with pyridoxine. Caused by a homozygous or compound heterozygous mutation in the SLC25A38 gene located on chromosome 3p22.1. The SLC25A38 gene mutation is transmitted as an autosomal recessive trait. Preferred (foundation metadata concept)
A novel and distinct form of non-syndromic syndactyly including complete syndactyly of the third and fourth fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the second and third toes and fifth finger clinodactyly. It has been described in two families. The locus for this complex limb malformation was mapped to chromosome 17p13.3. The condition is transmitted as an autosomal recessive trait. Preferred (foundation metadata concept)
A novel very rare form of PCH with clinical manifestations of progressive microcephaly, feeding difficulties and severe developmental delay. Although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures are demonstrated. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. Preferred (foundation metadata concept)
A novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients. It has clinical characteristics in the neonatal period of hypotonia, no palpable gonads, micropenis and from infancy progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype. Preferred (foundation metadata concept)
A nutrition counseling technique that involves keeping a detailed record of behaviors that influence diet and/or weight. Preferred (foundation metadata concept)
A nutritional product with modified amino acid composition. Preferred (foundation metadata concept)
A painful low back condition characterized by hypertonicity of psoas musculature. Preferred (foundation metadata concept)
A painful restriction of joint motion caused by excessive scarring following injury or operative procedure. Preferred (foundation metadata concept)
A palpable change in the tissues of the body away from their normal state. Preferred (foundation metadata concept)
A parameter is an entity whose value is determined by decision of an agent as opposed being observed in reality. Examples of parameters are goals or targets, equipment settings, and treatment parameters. Preferred (foundation metadata concept)
A parasitic disease caused by Cyclospora cayetanensis, a recently discovered coccidia that was initially described in Peru and then in most intertropical zones. The prevalence is unknown. Infection occurs through ingestion of contaminated food or water and leads to abdominal pain, anorexia and diarrhea, which may resolve spontaneously in immunocompetent individuals but may persist in a chronic form in immunocompromised subjects, leading to a decline in their general state of health. The diagnosis is made by parasitological examination of the stools. Preferred (foundation metadata concept)
A paroxysmal dystonic movement disorder occurring in association with gastro-esophageal reflux, and, in some cases, hiatal hernia. The prevalence is unknown. Onset usually occurs during infancy or early childhood. The dystonic movements are characterized by abnormal posturing of the head and neck (torticollis) and severe arching of the spine. The dystonic movements are clearly associated with gastro-esophageal reflux but the pathophysiological mechanism is not clearly understood. Preferred (foundation metadata concept)
A part of the celiac ganglion that is semidetached and contains sympathetic neurons that innervate the kidney. Preferred (foundation metadata concept)
A partial autosomal monosomy with characteristics of a variable combination of craniofacial, developmental, digital, skeletal, and cardiac features: hypotonia, developmental delay, growth deficiency, cleft palate, cardiovascular malformations, abnormalities of the hands and feet and typical dysmorphic features, such as microcephaly, rounded facies, small eyes, broad nasal bridge, upturned nose, full cheeks, small mouth and chin. Preferred (foundation metadata concept)
A partial autosomal monosomy with characteristics of a variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and breakpoints of deleted regions. Preferred (foundation metadata concept)
A partial autosomal monosomy with characteristics of developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies and specific craniofacial features commonly including craniosynostosis. Preferred (foundation metadata concept)
A partial autosomal monosomy with clinical characteristics of lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects). Preferred (foundation metadata concept)
A partial deletion of the long arm of chromosome 4 characterized by complex behavioral difficulties, developmental and delay/ intellectual disability, and minor dysmorphic features, including subtle facial asymmetry (most prominent in the mandible), mild hypotelorism, long nasal bridge, small low-set ears, narrow mouth and mild hand deformities such as bilateral short fifth metacarpals and short hands. Preferred (foundation metadata concept)
A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors. Preferred (foundation metadata concept)
A partial deletion of the short arm of chromosome 8 with manifestations of low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects. The prevalence is unknown but 8p23.1 deletions are rare. The clinical manifestations are variable and do not depend on the size of the deletion, since this is the same in the majority of patients. Most 8p23.1 deletions occur de novo, however, parents can carry and transmit the chromosomal rearrangement to their children as well, with a risk of 50% for each child. Preferred (foundation metadata concept)
A partial monosomy of the long arm of chromosome 9 with characteristics of intellectual disability, developmental delay with pronounced speech delay, short stature and muscular hypotonia. Common craniofacial dysmorphic features consist of microcephaly, prominent forehead, round face, arched eyebrows, upslanting palpebral fissures, strabismus, short nose and thin upper lip. Other clinical findings include epilepsy, ataxia, unspecific brain MRI findings, early-onset primary dystonia, nail dysplasia and bone malformations, in particular patellar abnormalities, epistaxis and cutaneous-mucous telangiectasia. Preferred (foundation metadata concept)
A partial-thickness cornea transplant procedure that involves selective transplantation of the corneal stroma, preserving the Descemet membrane and endothelium. Preferred (foundation metadata concept)
A pathological immune process generally directed towards a foreign antigen, which results in tissue injury, which is usually transient. It is the realization of the allergic disposition. It is most often applied to type I hypersensitivity but other hypersensitivity types especially type IV (e.g. allergic contact dermatitis) may be involved. Preferred (foundation metadata concept)
A pathological impulse to write obscene letters or sexual arousal from writing obscenities. Preferred (foundation metadata concept)
A pathological nonimmune process generally directed towards a foreign substance, which results in tissue injury, which is usually transient. It is the realization of the pseudoallergic disposition. A variety of mechanisms such as direct histamine release, complement activation, cyclooxygenase activation and bradykinin generation may be involved. Preferred (foundation metadata concept)
A pathological process consisting of the formation of new blood vessels in the choroid. Preferred (foundation metadata concept)
A pathological process initiated by exposure to a defined stimulus at a dose tolerated by normal persons. It may be the manifestation of a disposition to hypersensitivity. Preferred (foundation metadata concept)
A patient encounter completed using an electronic text-based software application (ie. text-based chatting) that allows for asynchronous communication between the patient and a clinician or health care administrator. Preferred (foundation metadata concept)
A patient speculated to have Ebola virus disease (EVD) based on symptomatology and history of exposure to the Ebola virus Preferred (foundation metadata concept)
A patient under general anesthesia with muscle relaxation who cannot be intubated by direct laryngoscopy and in whom mask ventilation is difficult and impossible. Preferred (foundation metadata concept)
A patient without symptomatology or history to suggest concern for EVD. Preferred (foundation metadata concept)
A pattern strabismus Preferred (foundation metadata concept)
A pattern strabismus (disorder) Preferred (foundation metadata concept)
A pattern vergence Preferred (foundation metadata concept)
A pattern vergence (finding) Preferred (foundation metadata concept)
A patterned dystrophy of the retinal pigment epithelium with a progressive course. The disease is characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. Sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses and partial atrophy of the iris. Preferred (foundation metadata concept)
A patterned dystrophy of the retinal pigment epithelium with characteristics of abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age. Preferred (foundation metadata concept)
A patterned dystrophy of the retinal pigment epithelium with characteristics of multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease. Usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age. Preferred (foundation metadata concept)
A periarticular route that begins within the articular cartilage. Preferred (foundation metadata concept)
A perinatally lethal skeletal dysplasia with manifestations of severe short-limbed dwarfism, joint dislocations, clubfeet along with distinctive facies and radiographic findings. Affected neonates are stillborn or die rapidly after birth. Craniofacial dysmorphism has characteristics of prominent forehead, hypertelorism, a depressed nasal bridge with a grooved tip, micrognathia and frequently a cleft palate. There is a continuum with overlapping clinical findings between atelosteogenesis I, atelosteogenesis III and boomerang dysplasia. This disease results from heterozygous mutations in exons 2-5 and 27-33 of the gene encoding filamin B (FLNB) located to 3p14. Preferred (foundation metadata concept)
A period of time equal to sixty seconds or a sixtieth of an hour. Preferred (foundation metadata concept)
A period of time occurring before, during and or after a clinical entity Preferred (foundation metadata concept)
A permanent disorder of the development of movement, posture and motor function, causing activity limitation, caused by non-progressive disturbances in the developing fetal or infant brain. Preferred (foundation metadata concept)
A permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary. The clinical manifestations can be subtle, probably as a result of trans-placental passage of some maternal thyroid hormone or due to the fact that many infants have some thyroid production of their own. Goiter is always absent. Slow linear growth and developmental delay are usually apparent by 4-6 months of age. Without treatment hypothyroidism results in severe intellectual deficit and short stature. The hypothyroidism is caused by mutations in genes regulating pituitary gland development including HESX1, LHX3, LHX4, POU1F1 and PROP1 (3p21.2-p21.1, 9q34.3, 1q25, 3p11 and 5q). Preferred (foundation metadata concept)
A peroxisomal neurodegenerative disorder with characteristics of spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotropic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy. There is evidence this disease is caused by homozygous mutation in the SCP2 gene on chromosome 1p32. Preferred (foundation metadata concept)
A person appointed by a court to make decisions on behalf of the subject once they have lost capacity to make them themselves. Preferred (foundation metadata concept)
A person responsible for coordinating all stages of the patient rehabilitation process. Preferred (foundation metadata concept)
A person who coordinates clinical research studies. Preferred (foundation metadata concept)
A person who coordinates multi-disciplinary patient care services, assuring that patients receive the care intended by their care plan. Preferred (foundation metadata concept)
A person who coordinates the activities of a care team. Preferred (foundation metadata concept)
A person who habitually uses nicotine, whether by smoking or other delivery system (such as electronic cigarette). Preferred (foundation metadata concept)
A person who has been trained to help guide another person in their spiritual journey. Preferred (foundation metadata concept)
A person who has the responsibility of communicating and coordinating healthcare interventions for individuals in populations with a specific condition. Preferred (foundation metadata concept)
A person who performs routine tasks and household duties for a patient in their home. Preferred (foundation metadata concept)
A person who provides support and guidance to an individual or a group of people such as a family or community during a crisis. Preferred (foundation metadata concept)
A person who shares the primary responsibility for the preparation, conduct, and administration of a research grant, cooperative agreement, or other sponsored project in compliance with applicable laws and regulations and institutional policy governing the conduct of clinical research. Preferred (foundation metadata concept)
A person who teaches in schools on the subject of promotion of health awareness and prevention of disease or injury. Preferred (foundation metadata concept)
A person who undertakes a collaborative process of assessment, planning, facilitation, care coordination, evaluation, and advocacy for options and services to meet individual and family. comprehensive health needs. Preferred (foundation metadata concept)
A person with no known exposure to Ebola virus. This includes anyone who has been in a country in which an EVD outbreak occurred within the past 21 days and has had no high or low risk exposures to the Ebola virus. Preferred (foundation metadata concept)
A person's ability to walk between locations in a room. Preferred (foundation metadata concept)
A person's ability to walk in corridor on unit. Preferred (foundation metadata concept)
A phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism. Four cases have been described in two families. The frontonasal dysplasia includes coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip. Affected individuals have mild to moderate intellectual deficit. A homozygous nonsense mutation in the human aristaless-like 4 (ALX4, 11p11.2) gene was identified in both families. The condition is transmitted as an autosomal recessive trait. Preferred (foundation metadata concept)
A phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy and characterized by progressive visual impairment, strokes and often associated with Raynaud phenomenon and migraine-like symptoms. Preferred (foundation metadata concept)
A phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy and characterized by strokes, vision loss, pseudotumors, seizures, motor and sensory deficits, headaches and occasionally renal disease. Preferred (foundation metadata concept)
A phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy characterized by strokes, vision loss, migraines, pseudotumors, dementia and occasionally renal disease. Preferred (foundation metadata concept)
A photocoagulation using a laser beam Preferred (foundation metadata concept)
A photographic image of a patient with the mouth partially open and the teeth not in occlusion or touching. Preferred (foundation metadata concept)
A physician who has the authority and assumes the responsibility for patient discharge from a healthcare facility. Preferred (foundation metadata concept)
A pipe ending in a small furnace that is filled with tobacco or other smokable substance and lit to draw out the smoke. Preferred (foundation metadata concept)
A place where the bodies of dead persons are kept temporarily pending identification or release for burial or autopsy. Preferred (foundation metadata concept)
A plan or recommendation for services, based on an evaluation Preferred (foundation metadata concept)
A planned residual tumor refers to the intentional leaving of a portion of the tumor after surgery. This decision can arise due to the tumor's proximity to vital structures, the risk of severe side effects from complete removal, or as part of a broader therapeutic strategy, such as subsequent radiation or chemotherapy. Preferred (foundation metadata concept)
A platelet granule disorder with manifestation of thrombocytopenia with giant platelets resulting in increased propensity for bleeding. Preferred (foundation metadata concept)

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