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 hereditary non-syndromic form of vitreoretinopathy with characteristics of retinal tears due to abnormal vitreous and commonly present refractive errors. No other signs or symptoms of Stickler syndrome are present. Can be caused by mutation in the COL2A1 gene.	Preferred (foundation metadata concept)
A rare hereditary nonmedullary thyroid carcinoma characterized by the presence of differentiated thyroid cancer of follicular cell origin in two or more first-degree relatives, in the absence of other familial tumor syndromes or radiation exposure. Frequent capsular invasion is observed. Biopsy reveals multicentric tumors with multiple adenomatous nodules with or without oxyphilia and follicular or papillary carcinoma histology.	Preferred (foundation metadata concept)
A rare hereditary nonpolyposis colon cancer defined in individuals meeting the Amsterdam criteria for Lynch syndrome, but lacking germline mutations in the mismatch repair genes. It is characterized by a later onset, preferential involvement of distal colon and rectum, lower risk of developing extracolonic cancer, a higher adenoma/carcinoma ratio, a higher differentiation of tumor cells, a more heterogeneous tumor architecture and an infiltrative growth pattern when compared to Lynch syndrome cases.	Preferred (foundation metadata concept)
A rare hereditary optic atrophy characterized by an early onset of bilateral optic nerve degeneration without other systemic features. Clinical manifestations include pallor of the optic disks, severe but slowly progressing visual impairment, and in some patients also paracentral scotoma, photophobia and dyschromatopsia.	Preferred (foundation metadata concept)
A rare hereditary optic atrophy with characteristics of early onset of bilateral optic nerve degeneration without other systemic features. Clinical manifestations include pallor of the optic discs, severe but slowly progressing visual impairment, and in some patients also paracentral scotoma, photophobia and dyschromatopsia.	Preferred (foundation metadata concept)
A rare hereditary palmoplantar keratoderma with characteristics of focal hyperkeratotic lesions on the palms and soles. Histopathologic examination reveals prominent hyperkeratosis, thickened stratum spinosum with reduced stratum granulosum, dis-adhesion of cells in the suprabasal layers, elongation of rete ridges and sparse lymphocyte infiltration in the dermis.	Preferred (foundation metadata concept)
A rare hereditary periodic fever syndrome with characteristics of infantile or childhood onset of episodes of fever and cold-induced urticaria-like rash and arthralgia. Ocular features such as conjunctivitis and uveitis may also be present. Presentation is typically mild and symptoms resolve without treatment in most cases.	Preferred (foundation metadata concept)
A rare hereditary primary immunodeficiency characterized by recurrent respiratory tract infection, otitis media, candidiasis, diarrhea, as well as various signs and symptoms of immune dysregulation (hypereosinophilia, eczema, vitiligo, alopecia areata, autoimmune hemolytic anemia, pityriasis rubra pilaris). Failure to thrive, moderate lymphadenopathy and hepatomegaly have also been reported. There is evidence the disease is caused by homozygous mutation in the TRAC gene on chromosome 14q11.	Preferred (foundation metadata concept)
A rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes. Most patients are asymptomatic or occasionally have mild symptoms such as pallor, jaundice, anemia and gallstones. The disease is common in Southeast Asian and Western Pacific countries and can occur at any age. Results from a 27 bp deletion in the SLC4A1 gene, localized on chromosome 17q21.31 (SLC4A1del27 mutation). This gene codes for a band 3 anion transport protein which is the bicarbonate/chloride exchanger in red blood cell membranes and defects in this protein cause membrane rigidity. The disease follows an autosomal dominant pattern of inheritance.	Preferred (foundation metadata concept)
A rare hereditary sensory and autonomic neuropathy characterized by congenital insensitivity to pain, general hypesthesia, diminished temperature sensitivity and hyperhidrosis. Motor function is preserved. Skin biopsy reveals lack of cutaneous innervation except for sensory and autonomic innervation of blood vessels and sweat glands.	Preferred (foundation metadata concept)
A rare hereditary sensory and autonomic neuropathy characterized by hypotonia in infancy, variable psychomotor retardation, markedly impaired pain sensitivity with poor healing. Also, distal ulcerations and painless fractures leading to joint deformities and amputation of fingers and toes, altered deep tendon reflexes and dysautonomic symptoms including hypohidrosis and heat intolerance, chronic diarrhea, pupillary abnormalities or urinary incontinence. Sensorineural hearing loss has also been reported. The severity of the disease is highly variable with severe cases being potentially lethal in infancy.	Preferred (foundation metadata concept)
A rare hereditary spastic ataxia disorder with childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated. Caused by homozygous mutation in the AFG3L2 gene on chromosome 18p11.	Preferred (foundation metadata concept)
A rare hereditary spastic paraplegia with characteristics of progressive spastic paraplegia with pyramidal signs in the lower limbs, decreased vibration sense, and increased reflexes in the upper limbs. Caused by heterozygous mutation in the HSPD1 on chromosome 2q33.	Preferred (foundation metadata concept)
A rare hereditary syndrome with characteristics of extreme microcephaly and growth restriction, severe motor delay, intellectual disability and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum and brainstem. Associated features are thin bones and scalp rugae.	Preferred (foundation metadata concept)
A rare hereditary syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases and distinctive facial features in males. Females are clinically asymptomatic or mildly affected presenting mild learning difficulties and facial dysmorphism.	Preferred (foundation metadata concept)
A rare hereditary syndromic intellectual disability with characteristics of craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.	Preferred (foundation metadata concept)
A rare hereditary syndromic intellectual disability with characteristics of developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oro motor dysfunction, seizures and autism spectrum disorder. Dysmorphic facial features are variable and nonspecific. Caused by heterozygous mutation in the NR2F1 gene on chromosome 5q15.	Preferred (foundation metadata concept)
A rare heterogeneous group of metabolic disorders with abnormal calcium metabolism due to deficient secretion of parathormone (PTH) without other endocrine disorders or developmental defects. It can occur at any age (from the newborn period to adulthood) but generally starts within the first decade of life. The disease may be due to an activating mutation of the calcium-sensing receptor (CASR) gene. This is the most common genetic cause and is transmitted as an autosomal dominant trait. It represents 42% of isolated hypoparathyroidism cases. Thirteen mutations have been described in familial or sporadic cases. In three families, mutations in the PTH gene have been identified. One family has been reported with a mutation in the gene encoding the glial cells missing homolog b (GCMB) transcription factor.	Preferred (foundation metadata concept)
A rare heterotaxia characterized by complex congenital heart malformations and abnormal lateralization of other thoracic and abdominal organs due to embryonic disruption of the left-right axis development. Cardiac defects include dextrocardia or mesocardia, common atrioventricular valve associated with complete atrioventricular septal defect or common atrium, transposition or malposition of the great arteries, and total anomalous pulmonary venous drainage, among others. Cardiac arrhythmias are frequently observed. Typical abnormalities of other organs are bilateral trilobed lungs, midline liver, and asplenia. Patients present in the newborn period with severe cardiac failure and cyanosis. Prognosis is poor.	Preferred (foundation metadata concept)
A rare highly malignant soft tissue sarcoma located in the uterine cervix and arising from primitive mesenchymal cells displaying skeletal muscle differentiation. It most often presents with abnormal vaginal discharge or dysfunctional uterine bleeding, abdominal pain and/or a cervical mass protruding into the vagina. Association with DICER1 syndrome has been reported.	Preferred (foundation metadata concept)
A rare histopathological disorder of unknown etiology characterized by the deposition of a subepithelial collagen band with accompanying inflammatory infiltrate.	Preferred (foundation metadata concept)
A rare hyaline fibromatosis syndrome with characteristics of papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occurring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material.	Preferred (foundation metadata concept)
A rare hypereosinophilic syndrome with characteristics of hypereosinophilia produced by reactive/non-clonal eosinophils secondary to an underlying medical condition and persisting for at least six months. The disorder can derive from non-neoplastic conditions (such as chronic infections and infestations, allergic reactions, intoxications, or autoimmune and chronic inflammatory disorders) or from neoplasms including non-myeloid malignancies, among others. It is associated with signs of organ infiltration, dysfunction and damage. Clinical manifestations are highly variable depending on the organ systems involved, and most commonly include dermatologic, pulmonary, cardiac, gastrointestinal, and cerebral manifestations.	Preferred (foundation metadata concept)
A rare hyperkinetic movement disorder with characteristics of delayed motor development and infantile onset of axial hypotonia and a generalized hyperkinetic movement disorder, principally with dyskinesia of the limbs and trunk, and facial involvement including orolingual dyskinesia, drooling, and dysarthria. Variable hyperkinetic movements may include a jerky quality, intermittent chorea and ballismus. Brain imaging is normal and cognitive performance is typically preserved.	Preferred (foundation metadata concept)
A rare hyperkinetic movement disorder with characteristics of mild to severe, progressive essential tremor, nystagmus (principally horizontal), duodenal ulceration and a narcolepsy-like sleep disturbance. Refractive errors and cerebellar signs such as gait ataxia and adiadochokinesia may be associated. There have been no further descriptions in the literature since 1976.	Preferred (foundation metadata concept)
A rare hypersensitivity reaction with characteristics of the rapid development of numerous, nonfollicular, sterile, pinhead-sized pustules on an erythematous base, predominantly occurring on the trunk, intertriginous and flexural areas, with rare, mostly oral, mucosal involvement. Fever, peripheral blood leukocytosis, and mild eosinophilia are accompanying features. Systemic involvement, with hepatic, renal or pulmonary dysfunction, occasionally occurs. Onset usually occurs 1-12 days after administration of the causal medication and is most frequently associated with beta‐lactam antibiotics, macrolides (including pristinamycin and clindamycin), diltiazem, terbinafine, (hydroxy‐)chloroquine but many other medications have also been implicated. Histology reveals spongiform, subcorneal and/or intraepidermal, pustules but this pattern is not specific (same in pustular psoriasis).	Preferred (foundation metadata concept)
A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.	Preferred (foundation metadata concept)
A rare hypomyelinating leukodystrophy disorder characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms. Age of onset typically ranges from infancy to childhood but exceptionally may occur in late adolescence or early adulthood. Mutations of the genes encoding POLR3 (RNA polymerase III) subunits, POLR3A, POLR3B and POLR1C, have been identified. The disease is inherited in an autosomal recessive manner.	Preferred (foundation metadata concept)
A rare idiopathic glomerular clinical syndrome with characteristics of diffuse renal lesions that are indistinguishable from the lesions observed in systemic lupus erythematosus (SLE) in the absence of circulating autoantibodies and other systemic features necessary to meet the classification criteria for SLE. Patients may present with nephrotic syndrome, abnormal urinary sediment, acute renal insufficiency, progressive glomerulonephritis and hypertension. Some patients have been reported to develop a progression to SLE over time.	Preferred (foundation metadata concept)
A rare idiopathic inflammatory myopathy with a heterogeneous phenotype that has characteristics of myositis with at least one clinical and/or autoantibody overlap feature. Possible clinical overlap features include polyarthritis, Raynaud's phenomenon, sclerodactyly, scleroderma (proximal to metacarpophalangeal joints), lung interstitial pneumonia, and/or clinical signs of systemic lupus erythematosus (SLE). The disorder is more common in adult women and is frequently associated with other connective tissue disorders.	Preferred (foundation metadata concept)
A rare idiopathic interstitial pneumonia with characteristics of prominent subpleural and parenchymal fibroelastosis and pleural fibrosis, predominantly involving the upper lobes. Signs and symptoms include non-productive cough, dyspnea, and recurrent respiratory infections. Pneumothorax is a frequently reported complication. Pulmonary function test reveals a restrictive pattern and reduced diffusing capacity. Computed tomography shows pleural thickening with signs of fibrosis (traction bronchiectasis, architectural distortion and loss of volume) and reticulation.	Preferred (foundation metadata concept)
A rare idiopathic nephrotic syndrome characterized by pediatric onset of proteinuria, hypoalbuminemia and edema. Patients respond successfully to the initial standard course of corticosteroids, but are resistant to standard therapy for a subsequent relapse and following this relapse remain steroid-resistant.	Preferred (foundation metadata concept)
A rare idiopathic nephrotic syndrome characterized by the triad of proteinuria, hypoalbuminemia and edema in patients who do not respond, or only partially respond to the initial trial of corticosteroids. Patients may be multidrug resistant or may be sensitive to second-line immunosuppressive therapy. After exclusion of the genetic forms, steroid-resistant nephrotic syndrome may result from a circulating permeability factor its presence may result in a relapse of nephrotic syndrome after kidney transplantation. Steroid-resistant nephrotic syndrome can also be secondary to an infection (such as cytomegalovirus) or an underlying kidney disease (such as immunoglobulin A nephropathy).	Preferred (foundation metadata concept)
A rare idiopathic skin disease with characteristics of widespread, congenital, superficial erosions and vesicles (often involving more than 75% of the body) which heal leaving scars with a supple, symmetrical, reticulated pattern, frequently resulting in cicatricial alopecia and hyperthermia and/or hypohidrosis. Nail anomalies, neurodevelopmental and ophthalmologic abnormalities, tongue atrophy and preterm birth, with or without history of chorioamnionitis, are commonly associated.	Preferred (foundation metadata concept)
A rare immune dysregulation disease with immunodeficiency and characteristics of severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma.	Preferred (foundation metadata concept)
A rare immune dysregulation disease with immunodeficiency with characteristics of infantile or childhood onset of a variable phenotype including recurrent/persistent bacterial, fungal and viral infections with involvement of the skin, lower respiratory tract, gastrointestinal tract, eczema, allergies and inflammatory bowel disease. Epstein-Barr related smooth muscle neoplasms have also been reported. Immunophenotyping shows decreased Treg counts, as well as a deficient CD3/CD28 co-stimulation response in CD4+ and CD8+ T-cells.	Preferred (foundation metadata concept)
A rare immunodeficiency syndrome characterized by a narrow vulnerability to poorly virulent mycobacteria such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria and defined by severe recurrent infections, either disseminated or localized. The most serious variants develop in early childhood with first infections generally occurring around the age of 3. MSMD can be inherited in an autosomal dominant, autosomal recessive or X-linked manner.	Preferred (foundation metadata concept)
A rare inborn error of amino acid metabolism with characteristics of elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not detected early or left untreated, the disorder manifests with mild to severe mental disability. The most common form of the condition is known as classical phenylketonuria and has severe symptoms. A mild form has also been described (mild PKU), and an even milder form known as mild hyperphenylalaninemia (mild HPA or non-PKU HPA). A subset of patients with milder phenotypes has been found to be responsive to tetrahydrobiopterin (BH4), the cofactor of phenylalanine hydroxylase (BH4-responsive HPA). The disease is caused by a wide range of variants in the PAH gene (12q22-q24.2) coding for phenylalanine hydroxylase. Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A rare inborn error of metabolism characterized by cabbage-like breath odor with high levels of methanethiol and dimethylsulfide in oral and nasal breath due to methanethiol oxidase deficiency. Laboratory examination shows elevated levels of dimethylsulfide, dimethylsulfoxide and dimethylsulfone in blood, cerebrospinal fluid (CSF) and urine.	Preferred (foundation metadata concept)
A rare inborn error of metabolism characterized by congenital asplenia and childhood or adolescent onset of generalized inflammation, persistent intravascular hemolysis and anemia, severe endothelial injury with abnormal coagulation, bleeding diathesis and nephropathy. Additional reported manifestations include growth retardation, mild facial dysmorphism and hepatomegaly.	Preferred (foundation metadata concept)
A rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement. There is evidence the disease is caused by homozygous mutation in the ADK gene on chromosome 10q22.	Preferred (foundation metadata concept)
A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals. While there are no additional signs and symptoms, the condition can have profound psychosocial consequences.	Preferred (foundation metadata concept)
A rare inborn error of metabolism characterized by variable combinations of non-spherocytic hemolytic anemia, myopathy and various central nervous system abnormalities. The majority of patients present with chronic hemolytic anemia, which may be severe in some cases. Myopathy is a common finding. Rhabdomyolysis has also been reported in a few patients. Intellectual deficit is frequent and other central nervous system manifestations may be also present. Caused by mutations in the PGK1 gene (Xq13.3) and around 20 different disease-causing variants have been identified so far in affected families. Inherited as an X-linked trait.	Preferred (foundation metadata concept)
A rare inborn error of metabolism comprising 3-phosphoglycerate dehydrogenase deficiency, 3-phosphoserine phosphatase deficiency and phosphoserine aminotransferase deficiency. The disease has a phenotypic spectrum ranging from congenital microcephaly, psychomotor retardation and intractable seizures in the infantile forms to milder juvenile forms with moderate developmental delay and intellectual disability.	Preferred (foundation metadata concept)
A rare inborn error of metabolism disease with characteristics of mild to moderate persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms or the disease may also be asymptomatic.	Preferred (foundation metadata concept)
A rare inborn error of metabolism disorder with early-onset acute encephalopathic episodes (frequently triggered by viral infections) associated with lactic acidosis and alpha-ketoglutaric aciduria which typically manifest with variable degrees of ataxia, generalized developmental regression (which deteriorates with each episode) and dystonia. Other manifestations include spasticity, seizures, truncal hypotonia, limb hypertonia, brisk tendon reflexes and reversible coma. Caused by homozygous or compound heterozygous mutation in the TPK1 gene on chromosome 7q35.	Preferred (foundation metadata concept)
A rare inborn error of metabolism with characteristics of abnormal accumulation of plasma cystathionine and subsequent increased urinary excretion due to cystathionine gamma-lyase deficiency. The condition is considered benign without pathological relevance. Mode of inheritance is autosomal recessive.	Preferred (foundation metadata concept)
A rare inborn error of metabolism with characteristics of elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. The disease presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline.	Preferred (foundation metadata concept)
A rare inborn error of metabolism with characteristics of increased serum phenylalanine, associated with variable neurological symptoms ranging from mild autistic features or hyperactivity to severe intellectual disability, dystonia, and parkinsonism. Laboratory analyses show normal tetrahydrobiopterin (BH4) metabolism and low levels of the CSF monoamine neurotransmitter metabolites homovanillic acid and 5-hydroxyindoleacetic acid.	Preferred (foundation metadata concept)
A rare inborn error of metabolism with characteristics of massive accumulation of triglycerides in the myocardium and coronary arteries while plasma triglyceride levels are normal. Patients present in adulthood with signs and symptoms of coronary artery disease and severe heart failure. Concomitant skeletal myopathy is common. Vacuole formation in polymorphonuclear leukocytes is typically observed.	Preferred (foundation metadata concept)
A rare inborn error of metabolism with characteristics of severe neonatal encephalopathy with EEG abnormalities, increased serum lactate, little or no psychomotor development and sometimes death in infancy. Brain imaging may show cortical atrophy, enlarged ventricles, delayed myelination and white matter abnormalities among others.	Preferred (foundation metadata concept)
A rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (for example inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported.	Preferred (foundation metadata concept)
A rare indolent B-cell non-Hodgkin lymphoma characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune hemolytic anemia and autoimmune thrombocytopenia could be associated.	Preferred (foundation metadata concept)
A rare indolent B-cell non-Hodgkin lymphoma with characteristics of abnormal proliferation of small monomorphous basophilic B-lymphocytes with villous cytoplasm in the splenic red pulp, bone marrow and peripheral blood. It typically presents in the late clinical stages with splenomegaly and moderate lymphocytosis. Cytopenia is rare and likely associated with hypersplenism.	Preferred (foundation metadata concept)
A rare indolent subtype of clear cell renal carcinoma arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis.	Preferred (foundation metadata concept)
A rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region.	Preferred (foundation metadata concept)
A rare infantile epilepsy syndrome characterized by complex partial seizures presenting with motion arrest, decreased responsiveness, staring, automatisms and mild clonic movements, with or without apnea, normal interictal EEG and focal, mostly temporal discharges in ictal EEG. Most often, seizures occur in clusters and have a good response to treatment. Psychomotor development is normal.	Preferred (foundation metadata concept)
A rare infantile epilepsy syndrome characterized by seizures presenting with motion arrest and staring. They are followed by generalized tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by generalization in ictal EEG. Seizures usually occur in clusters and are responsive to treatment. Psychomotor development is normal.	Preferred (foundation metadata concept)
A rare infantile epilepsy syndrome with characteristics of benign afebrile seizures in previously healthy infants and children (age range 1 month to 6 years) with mild acute gastroenteritis without any central nervous system infection, severe dehydration, or electrolyte imbalances. In most cases the seizures are tonic-clonic with focal origin on EEG, occur between day 1 and 6 following onset of acute gastroenteritis, cease within 24 hours and do not persist after the illness.	Preferred (foundation metadata concept)
A rare infectious disease with characteristics of familial primary chronic Epstein-Barr virus infection, which typically manifests with persistent mononucleosis-like signs and symptoms in the absence of secondary immunodeficiency.	Preferred (foundation metadata concept)
A rare infectious skin disease characterized by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to Polyomavirus infection in immunocompromized patients.	Preferred (foundation metadata concept)
A rare inflammatory bowel disease with characteristics of early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurrent colitis that leads to untreatable diarrhea. There have been no further descriptions in the literature since 1991.	Preferred (foundation metadata concept)
A rare inflammatory eye disease of unknown etiology characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss.	Preferred (foundation metadata concept)
A rare inflammatory eye disease with characteristics of IgG4 (immunoglobulin G4) immunopositive lymphocyte and plasmacyte infiltration and collagenous fibrosis of affected tissue and elevated serum levels of IgG4. Clinical presentation includes mass lesion or swelling of the involved structures, commonly involving lacrimal gland and duct, infraorbital and supraorbital nerves, extraocular muscles and orbital soft tissues. A systemic involvement is common.	Preferred (foundation metadata concept)
A rare inflammatory myopathy characterized by diffuse destructive infiltration of CD68 positive macrophages into the fascia rather than muscle fibers in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI.	Preferred (foundation metadata concept)
A rare inflammatory necrotizing systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs, including the kidney, the lungs, the skin and the peripheral nerves. This disease is an antineutrophil cytoplasmic autoantibodies (ANCA)-associated autoimmune disease with little or no immune complex deposition. Evidence indicates that ANCA can activate neutrophils and monocytes and cause them to attack vessel walls.	Preferred (foundation metadata concept)
A rare inflammatory optic neuropathy characterized by recurrent episodes of idiopathic inflammation of the optic nerve head with optic disc edema associated with macular exudate in a star-shaped pattern. Patients present with acute visual loss most typically in the form of a large central scotoma. Pain is mild or absent. Bilateral involvement is frequent and usually sequential. The interval between attacks is highly variable ranging from months to several years. Visual loss is cumulative with each attack and often severe.	Preferred (foundation metadata concept)
A rare inflammatory optic neuropathy with characteristics of severe and persistent pain followed by subacute visual loss, a relapsing-remitting course and steroid-dependence. Involvement of both optic nerves is common and is usually sequential. Serum antibodies against aquaporin 4 are absent in most cases. Magnetic resonance imaging shows contrast enhancement of the acutely inflamed optic nerves.	Preferred (foundation metadata concept)
A rare inherited bleeding disorder with characteristics of defective platelet adhesion and secondary coagulation defect that manifests as abnormal bleeding of variable severity occurring either spontaneously or in association with an invasive procedure. Three main subtypes are defined based on the type of von Willebrand factor defect: partial (type 1) or total (type 3) deficiency, and qualitative/functional anomalies (type 2). Caused by mutations in the VWF gene (12p13.3) encoding the multimeric VWF protein. Most often transmitted in an autosomal dominant manner, however, the mode of inheritance is autosomal recessive for type 3 VWD and for some of the type 2 subtypes.	Preferred (foundation metadata concept)
A rare inherited bone marrow failure syndrome with manifestation of an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood. The exact prevalence is unknown and less than 100 cases have been reported in the literature. The inheritance pattern is autosomal recessive.	Preferred (foundation metadata concept)
A rare inherited cancer-predisposing syndrome characterized by adult onset of hematologic malignancies mainly affecting the myeloid lineage (such as myelodysplastic syndrome and/or acute myeloid leukemia), less frequently lymphoid malignancies. Some patients have been reported to develop granulomatous or immune disorders (including sarcoidosis, systemic lupus erythematosus, asthma, eczema, or juvenile arthritis) before or in the absence of hematologic malignancies.	Preferred (foundation metadata concept)
A rare inherited cancer-predisposing syndrome characterized by occurrence of multiple synchronous primary carcinoids of the small intestine. Clinical presentation is otherwise indistinguishable from sporadic carcinoids and includes abdominal pain, flushing, and diarrhea, often becoming manifest only after a long asymptomatic period. Most patients present with low grade tumors. Occurrence of pulmonary carcinoids has also been reported.	Preferred (foundation metadata concept)
A rare inherited cancer-predisposing syndrome characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. The kidney tumors range from benign oncocytomas to malignant renal cell carcinomas including chromophobe, clear cell or papillary subtypes. Fibrofolliculomas are characterized by a circumscribed proliferation of collagen and fibroblasts surrounding distorted hair follicles from which basaloid cells protrude into the surrounding fibromucinous stroma. Other characteristic skin anomalies are trichodiscomas and acrochordons. Dermatological manifestations usually develop in the third and fourth decades of life and persist indefinitely. The syndrome is transmitted in an autosomal dominant fashion.	Preferred (foundation metadata concept)
A rare inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (for example cafe au lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polyps) are frequently present before malignancy development.	Preferred (foundation metadata concept)
A rare inherited cancer-predisposing syndrome with characteristics of early development of cutaneous telangiectasia, mild dental and nail anomalies, patchy alopecia over the affected skin areas and increased lifetime risk for oropharyngeal cancer. Other types of cancer have also been reported. There is evidence the disease is caused by heterozygous mutation in the ATR gene on chromosome 3q23.	Preferred (foundation metadata concept)
A rare inherited cancer-predisposing syndrome with characteristics of early-onset hepatocellular carcinoma, genomic instability and progeroid features, such as short stature, low body weight, muscular atrophy, lipodystrophy, bilateral cataracts and premature hair graying. Dysmorphic craniofacial features include triangular face, small, deep-set eyes and micrognathia. Kyphoscoliosis, sloping shoulders, mild pectus excavatum, bilateral contractures of the elbows and fingers, bilateral clinodactyly and pes planus have also been reported.	Preferred (foundation metadata concept)
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars and generalized joint hypermobility. The disease is caused by heterozygous mutation in the collagen alpha-2(V) gene (COL5A2) on chromosome 2q31.	Preferred (foundation metadata concept)
A rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone). It is due to mutations of the /CYP11B2/ (aldosterone synthase) gene and usually presents in infancy as a life-threatening electrolyte imbalance.	Preferred (foundation metadata concept)
A rare inherited disorder due to the ectopic expression of the aldosterone synthase in the fascicular zone of the adrenal gland and marked with early severe hypertension (often occurring before the age of 20), biological signs of primary aldosteronism of variable intensity, and an abnormal elevated level of 18-oxo- and 18-hydroxycortisol.	Preferred (foundation metadata concept)
A rare inherited epidermolysis bullosa with characteristics of aplasia cutis congenita on the extremities, leaving behind hypopigmentation and atrophy in a whirled pattern. Generalized blistering persists during childhood and heals with cutaneous and follicular atrophy, linear and stellate scars and hypopigmentation. Skin fragility decreases with adulthood. Adult patients exhibit dyspigmentation and atrophy of the skin, scars, follicular atrophoderma, sparse body hair, progressive diffuse alopecia of the scalp, diffuse palmoplantar keratoderma, and nail changes. Dilative cardiomyopathy with heart failure complicates the disease course in young adulthood or later and may have lethal outcome. Ultra-structurally, intraepidermal splitting appears at the level of the basal keratinocytes above the hemidesmosomes.	Preferred (foundation metadata concept)
A rare inherited form of cutaneous melanoma with characteristics of development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family. It is thought to account for about 10% of all cases of cutaneous melanoma. Tends to occur earlier than non-familial melanoma. The risk of familial melanoma is closely related to a wide range of genetic alterations in susceptibility genes but also appears to be influenced by phenotypic risk factors, such as pigmentation, freckling and sun reactions. Complex interactions between genetic and environmental factors are therefore thought to underlie the disease. The most common high-penetrance susceptibility gene implicated is CDKN2A, accounting for predisposition in approximately 20% of cases. In some affected families, susceptibility is consistent with autosomal dominant inheritance but in most cases, a polygenic mode of inheritance appears likely.	Preferred (foundation metadata concept)
A rare inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis. The disease has characteristics of intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.	Preferred (foundation metadata concept)
A rare inherited neuromuscular disease with prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning. This results in joint abnormalities that may involve both lower and upper extremities and is usually symmetric. Also associated with severe hypotonia at birth, bilateral club foot, motor development delay, mild facial weakness without ophthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement and progressive disease course with loss of ambulation after the first decade of life.	Preferred (foundation metadata concept)
A rare inherited popliteal pterygium syndrome with characteristics of severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, genital abnormalities and additional ectodermal anomalies (absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period but survival into childhood has been reported.	Preferred (foundation metadata concept)
A rare inherited rheumatologic disease which causes calcification of articular fibrocartilage or hyaline cartilage. It often associates with acute synovitis and osteoarthritis. The disease manifests in early adulthood (20-40 years old) and has a variable clinical phenotype. Mutations in the ANKH gene (human homologue of progressive ankylosis; 5p15.2), encoding a protein involved in cellular inorganic pyrophosphate transport, were identified in some cases of familial CPPD. Other familial cases have been linked to mutation in the Tumor Necrosis Factor Receptor Super Family member 11B (TNFRSF11B) gene coding for osteoprotegerin (OPG) Other causative genes are yet to be determined. Has an autosomal dominant mode of inheritance with variable penetrance.	Preferred (foundation metadata concept)
A rare inherited skin cancer syndrome with the coexistence of features characteristic of both multiple keratoacanthoma, Ferguson Smith type and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant.	Preferred (foundation metadata concept)
A rare inherited skin hyperpigmentation disorder with characteristics of widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa.	Preferred (foundation metadata concept)
A rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.	Preferred (foundation metadata concept)
A rare intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly. The disease is caused by homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13.	Preferred (foundation metadata concept)
A rare intellectual disability syndrome characterized by pre and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency has also been reported in some patients.	Preferred (foundation metadata concept)
A rare intellectual disability syndrome with characteristics of growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe.	Preferred (foundation metadata concept)
A rare intellectual disability syndrome with characteristics of severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).	Preferred (foundation metadata concept)
A rare intellectual disability syndrome with manifestations of severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias.	Preferred (foundation metadata concept)
A rare intellectual disability syndrome with most common characteristics of megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.	Preferred (foundation metadata concept)
A rare intermediate form of open dysraphism between myelomeningocele and saccular limited dorsal myeloschisis without fulfilling the characteristics of one of these two diagnosis, characterized by stretched neurulation of spinal cord attached at the dome of a sac. Partial cerebral signs of open dysraphism can be observed and the meningocele is usually poorly epithelialized.	Preferred (foundation metadata concept)
A rare intestinal disease characterized by persistent or recurrent symptoms and signs of confirmed celiac disease despite a long-term, strict, gluten-free diet, in the absence of other causes of villous atrophy or malignant complications and with or without presence of increased abnormal intraepithelial lymphocytes.	Preferred (foundation metadata concept)
A rare intestinal disease with characteristics of congenital partial or complete lack of the collagen mesh network in the intestinal wall resulting in hypoperistalsis or aperistalsis. The enteric nervous system is normal or near normal in the affected areas, although hypo and dysganglionosis may be found in some proximal segments of the colon and/or small bowel. Patients present with chronic intractable slow transit constipation.	Preferred (foundation metadata concept)
A rare intestinal disorder characterized by the inability to control the passage of rectal contents (feces, gas) through the anus following ileal pouch-anal anastomosis surgery. Fecal incontinence is usually more frequent during the night than during daytime. The condition generally worsens over time with a significant negative impact on the quality of life of the patient.	Preferred (foundation metadata concept)
A rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.	Preferred (foundation metadata concept)
A rare intoxication affecting children, most commonly characterized by erythema of the hands, feet and nose, edematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paresthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss, and insomnia.	Preferred (foundation metadata concept)
A rare isolated constitutional thrombocytopenia characterized by reduced platelet count and defective platelet ATP secretion, resulting in increased bleeding tendency. Clinical manifestations are easy bruising, gum bleeding, menorrhagia, spontaneous epistaxis, spontaneous muscle hematoma and potential postpartum hemorrhage among others.	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)