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 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 platelet granule disorder with manifestation of thrombocytopenia with giant platelets resulting in increased propensity for bleeding.	Preferred (foundation metadata concept)
A platelet granule disorder with manifestation of thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding.	Preferred (foundation metadata concept)
A poly-malformation syndrome with characteristics of craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia and genital and breast anomalies. Less than ten cases have been described so far.	Preferred (foundation metadata concept)
A polymalformation syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit.	Preferred (foundation metadata concept)
A polymalformation syndrome with main features of agenesis of corpus callosum, distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit. Craniofacial anomalies include macrocephaly with protruding forehead and occiput and hypertelorism. Distal anomalies of limbs include preaxial or postaxial polydactyly or polysyndactyly of toes and/or hands. The large majority of patients have intellectual deficit that is severe in 80% of cases. Mutations of the kinesin KIF7 (15q26.1) and the transcriptional activator GLI3 (7p14.1) genes are responsible for the disease. An autosomal recessive disease.	Preferred (foundation metadata concept)
A polymorphic disorder with characteristics of ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia. Disease onset occurs in adulthood from the ages of 30-40. Mild brain atrophy with cerebellum involvement is visible with magnetic resonance imaging. Caused by a mutation in the DNA methyltransferase (DNMT1) gene located on chromosome 19p13.2. It encodes an enzyme essential for the repression of transcriptional activity in numerous postmitotic cells.	Preferred (foundation metadata concept)
A polymorphic pattern of inflammatory reaction of the skin in response to contact with external irritants or allergens.	Preferred (foundation metadata concept)
A porcine xenograft of skin is when the skin donor is a pig and the graft recipient is a different species (human).	Preferred (foundation metadata concept)
A potential space containing the pterygoid and masseter muscles	Preferred (foundation metadata concept)
A potential space in the floor of the mouth; the part of the submandibular space above the mylohyoid muscle	Preferred (foundation metadata concept)
A potential space of the floor of the mouth; part of the submandibular space below the mylohyoid muscle	Preferred (foundation metadata concept)
A potential space of the floor of the mouth; the medial part of the submaxillary space	Preferred (foundation metadata concept)
A potentially fatal neurological disease with characteristics of neuropathological lesions principally involving the brainstem, thalamus and putamen. It has been described in 11 members of one family. Onset occurs during early childhood, typically a few days after a febrile illness. Manifestations include vomiting, seizures, spasticity, language regression, rigidity and abnormal posturing of the head. Residual neurologic impairment (muscle weakness, speech disturbance, intellectual deficit and mood disorders) persists in some patients. The disease is chronic in one out of two cases. The mode of transmission appears to be autosomal dominant with incomplete penetrance.	Preferred (foundation metadata concept)
A potentially lethal complication of pheochromocytoma that may occur as a result of anesthesia, surgery or during pregnancy and childbirth. The crisis is caused by excessive release of catecholamines and may be drug-induced secondary to histamine release, dopamine receptor blockade, or sympathomimetic action. Crisis may also result from mechanical factors such as squeeze of the tumor during surgery.	Preferred (foundation metadata concept)
A pressure ulcer that cannot be assessed for extent of tissue damage because it is obscured by slough or eschar.	Preferred (foundation metadata concept)
A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.	Preferred (foundation metadata concept)
A primary bone dysplasia with characteristics of height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs. Mesomelic disproportions and Madelung deformity are not apparent at a young age but may develop later in life or never.	Preferred (foundation metadata concept)
A primary bone dysplasia with characteristics of premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis and joint space narrowing.	Preferred (foundation metadata concept)
A primary glomerular disease with characteristics of proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life. Fibronectin glomerulopathy may present at different ages, although mostly in adolescence or early adulthood, with typical features of a nephrotic syndrome including hypertension. Clustering of the disease within families indicates a genetic origin. In 40% of families, the disease is caused by heterozygous mutations in the FN1 gene (2q34) encoding fibronectin. Whole-genome linkage analysis in a large pedigree showed another disease locus on 1q32, however no specific candidate genes has been identified so far. Segregation with disease appearance in successive generations is consistent with an autosomal dominant pattern of inheritance with age-related penetrance.	Preferred (foundation metadata concept)
A primary headache disorder with characteristics of unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing). The disease manifests with strictly unilateral pain attacks of moderate-to-severe intensity. The typical patient may have 50 to 100 short attacks a day, lasting for 1 to 5 minutes. The attacks predominate during the daytime. Prominent, ipsilateral conjunctival injection and lacrimation regularly accompany the attacks. Trauma, arteriovenous malformations and pituitary adenoma may have a causative role.	Preferred (foundation metadata concept)
A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas. The disease is due to a point dominant negative mutation in the RAC2 gene causing decreased Rac2 protein expression and a defect in a signaling pathway controlling shape change/motility of neutrophils as well as assembly and activation of NADPH oxidase. The mode of transmission is unknown.	Preferred (foundation metadata concept)
A primary immunodeficiency with characteristics of increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease. Only 24 cases have been reported. The disease presents in childhood with recurrent, life-threatening, pyogenic bacterial infections. This predisposition to life-threatening infections seems transient and lasts during the first 10 years of life in the cases reported so far. Myeloid differentiation primary response 88 (MyD88) deficiency results from mutations in the MYD88 gene (3p22-3p21.3) which generally abolishes the cytokine responses of the blood cells. Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A primary microangiopathy confined to the skin with characteristics of multiple and widespread telangiectasia. It is a rare disorder with less than 20 cases reported in the literature to date. Most patients present in adulthood with symmetrical telangiectasia appearing on the lower extremities and later progressing to the trunk and upper extremities. Thought to be associated with collagen abnormalities in the skin microvasculature.	Preferred (foundation metadata concept)
A procedure done by piercing or penetrating with a pointed object or instrument	Preferred (foundation metadata concept)

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Reference Sets

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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)