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 form of syndromic craniosynostosis with characteristics of unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin, eyes and intestine. Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningocele and development of desmoplastic medulloblastoma have been reported.	Preferred (foundation metadata concept)
A form of thoracic outlet syndrome that manifests as unilateral (rarely bilateral) arm pain and cyanosis. The disease occurs in young adults, usually after excessive arm activity. The characteristic symptoms, caused by venous obstruction, are arm swelling, cyanosis and pain. Repetitive arm motion and compression of the subclavian vein in the neck (between the clavicle and the first rib) leads to scar tissue that can predispose to thrombosis due to narrowing of vessels.	Preferred (foundation metadata concept)
A form of von Willebrand disease (VWD) with characteristics of a bleeding disorder associated with a partial, quantitative plasmatic deficiency of an otherwise structurally and functionally normal von Willebrand factor (VWF). The type 1 disease is considered to be the most common form of VWD, caused by mutations in the VWF gene (12p13.3). Transmitted in an autosomal dominant manner.	Preferred (foundation metadata concept)
A form of von Willebrand disease (VWD) with characteristics of a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (VWF). Depending on the type of functional abnormalities, this form is classified as type 2A, 2B, 2M or 2N. The VWF gene (12p13.3) anomalies that lead to type 2 VWD involve the well-defined functional domains of the VWF protein. Most subtypes of type 2 VWD are transmitted in an autosomal dominant manner except for type 2N and some rare forms of type 2A which are autosomal recessive.	Preferred (foundation metadata concept)
A fracture of the articular surface of a bone, produced by a force transmitted from the articular surface of a contiguous bone across the joint and through the articular cartilage to the subchondral trabeculae of the fractured bone. The cartilage itself is not necessarily torn.	Preferred (foundation metadata concept)
A fracture that occurs in proximity to an implant.	Preferred (foundation metadata concept)
A fracture that occurs when the mechanical strength of a bone is reduced to the point at which a stress that would not fracture a healthy bone breaks the weak one.	Preferred (foundation metadata concept)
A frame consisting of 3 or 4 legs which aids a person with walking. Some walking frames come with wheels at the front to help move the frame. The frame is moved by either lifting the entire frame or by tilting the frame off the back legs and onto the front wheels.	Preferred (foundation metadata concept)
A frequent form of diazoxide-sensitive diffuse hyperinsulinism characterized by an excessive uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur.	Preferred (foundation metadata concept)
A galloping sound on cardiac auscultation because of an abnormally audible fourth heart sound.	Preferred (foundation metadata concept)
A galloping sound on cardiac auscultation because of an abnormally audible third heart sound.	Preferred (foundation metadata concept)
A gamma beta^+^ hereditary persistence of fetal hemoglobin AND beta^0^ thalassemia in cis	Acceptable (foundation metadata concept)
A gamma beta^+^ hereditary persistence of fetal hemoglobin AND beta^0^ thalassemia in cis (disorder)	Preferred (foundation metadata concept)
A gas supplied under pressure which is entirely gaseous at - 50 °C.	Preferred (foundation metadata concept)
A gas supplied under pressure, which is partially liquid (gas over liquid) at -50 °C.	Preferred (foundation metadata concept)
A gas which liquifies at 1.013 bar at a temperature below -150 °C.	Preferred (foundation metadata concept)
A gastroenteral route that begins in the intestinal tract (within the small and large intestines).	Preferred (foundation metadata concept)
A gastroenteral route that begins through a surgically created opening into the gastrointestinal tract.	Preferred (foundation metadata concept)
A gastroenteral route that begins within the esophagus.	Preferred (foundation metadata concept)
A gastroenteral route that begins within the stomach.	Preferred (foundation metadata concept)
A general position for a supernumerary tooth located somewhere other than the midline of the dental arch.	Preferred (foundation metadata concept)
A general term used to refer to any damage to or abnormality of the joint structure or surrounding soft tissue resulting in a limitation of joint movement.	Preferred (foundation metadata concept)
A generalized onset seizure type with a myoclonic jerk leading to an atonic motor component. This type was previously called myoclonic–astatic. A seizure originating at some point within, and rapidly engaging, bilaterally distributed networks.	Preferred (foundation metadata concept)
A genetic cause of hypertension secondary to primary aldosteronism that is not suppressed with dexamethasone. Patients present with an adrenal adenoma that secretes aldosterone.	Preferred (foundation metadata concept)
A genetic disorder with characteristics of formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family.	Preferred (foundation metadata concept)
A genetic disorder with characteristics of intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features. The syndrome is caused by either a point mutation in the euchromatic histone-lysine N-methyltransferase 1 (EHMT1) gene (rarely) or by a microdeletion in the chromosome region 9q34.3 (seen in more than 85% of cases), leading to the loss of the entire gene. This gene encodes an enzyme that modifies histone function and is essential for normal development. Larger deletions (greater than 1mb) are associated with more severe symptoms.	Preferred (foundation metadata concept)
A genetic disorder with characteristics of the appearance of numerous cysts spread throughout the liver. Women are predominantly affected and have a larger number of cysts than affected males. Cysts are undetectable early in life and usually appear after the age of 40 years. Their number and size increases with age. Symptoms depend on the mass (compression effect) some patients are asymptomatic. Liver function is usually normal. There is no portal hypertension. Extrahepatic manifestations are very rare and may include intracranial aneurysms (usually small sized and at a low risk of rupture) and mitral leaflet abnormalities. Liver cysts result from overgrowth of biliary epithelium or from dilatation of peribiliary glands. Some cases occur sporadically, but most are inherited as an autosomal dominant trait.	Preferred (foundation metadata concept)
A genetic epilepsy of childhood with characteristics of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Seizures can regress in adulthood but most patients have ongoing seizures that are refractory to medication. Around 85% of cases are due to a mutation or deletion in the SCN1A gene (2q24.3), encoding a voltage-gated sodium channel essential for the excitability of neurons. In families with a known SCN1A mutation, inheritance is autosomal dominant.	Preferred (foundation metadata concept)
A genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life with clusters (8-10 a day) of repeated and brief episodes (2-5 minutes) over a few days. They are usually focal but can sometimes become generalized. A family history of the same epilepsy is a constant finding. The disease is genetically heterogeneous, in the majority of cases, mutations in the proline-rich transmembrane protein 2 (PRRT2) gene located at 16p11.2 have been found. Mutations have also been found in the SCN2A gene (2q24.3) encoding the brain sodium channel NaV1.2 and rarely in the KCNQ2 (20q13.33) and KCNQ3 (8q24) genes both encoding potassium channels. Additionally, three other chromosomal loci have been identified that are mapped to chromosome 19q, 16p and 1p. Transmitted as an autosomal dominant trait with incomplete penetrance.	Preferred (foundation metadata concept)
A genetic macular dystrophy with characteristics of loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region. Onset is in childhood and sometimes in later teenage years (5-13 years). Affected individuals have normal vision at birth. The disease then progresses through distinct stages and has characteristics of atrophy of the retinal pigment epithelium (RPE) affecting photoreceptors with impaired central visual function. In most cases, the disease is caused by mutations in BEST1 (11q12), encoding for bestrophin-1, a chloride channel expressed in RPE. A defect in this protein leads to accumulation of lipofuscin secondary to abnormal ion exchange. Inherited in an autosomal dominant manner with complete penetrance.	Preferred (foundation metadata concept)
A genetic neurodegenerative disease with normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13.	Preferred (foundation metadata concept)
A genetic non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated.	Preferred (foundation metadata concept)
A genetic syndrome characterized by the absence of all four limbs.	Preferred (foundation metadata concept)
A genetic transmission deafness syndrome. The profound congenital deafness is associated with a complete absence of inner ear structures (Michel aplasia) microtia type I with small auricle and narrow external auditory canal and microdontia with widely spaced teeth. Linkage analysis followed by sequencing of candidate genes led to identification of three different homozygous mutations in the FGF3 gene (11q13). Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A genetic variant of Mendelian susceptibility to mycobacterial disease with characteristics of mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections. The prevalence is unknown. The disease presents in early childhood. BCG is the most common infection encountered, usually after receiving the vaccination. Non-typhoidal Salmonella infections are also seen in half of all cases. Caused by homozygous mutations in the IL12B gene on chromosome 5q31.1-q33.1 which encodes for the IL-12p40 subunit. There are 9 different IL12B mutant alleles identified, including 2 small insertions, 3 small deletions, 2 splice site mutations, 1 large deletion and 1 nonsense mutation.	Preferred (foundation metadata concept)
A genetic variant of Mendelian susceptibility to mycobacterial diseases with characteristics of a complete deficiency in interferon gamma receptor 1(IFN-gammaR1), leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Guérin and other environmental mycobacteria. Infection is disseminated and can involve soft tissue, bone marrow, lungs, skin, bones and lymph nodes. Manifestations include fever, weight loss, hepatosplenomegaly, lymphadenopathies and lepromatous-like lesions. Caused by complete IFN-gammaR1 deficiency due to mutations in the IFNGR1 gene on chromosome 6q23-q24. Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A genetic variant of Mendelian susceptibility to mycobacterial diseases with characteristics of mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections. The prevalence is unknown. Over 140 cases have been reported in the world. Disease onset usually occurs in patients before the age of 12 with the appearance of BCG disease, usually after receiving the vaccination. Over half of patients with this variant experience an additional infection with non-typhoidal Salmonella. Caused by mutations in the IL12RB1 gene (19p13.1) subunit that encodes for the IL-12R-beta1 chain. These mutations impair the IL-12/IL-23 pathway essential for production of IFN-beta and the resulting immunity against Salmonella and BCG infections. Inherited in an autosomal recessive manner.	Preferred (foundation metadata concept)
A genetic variant of mendelian susceptibility to mycobacterial disease with characteristics of a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections. The prevalence is unknown. First infections occur after the age of 3. Clinical penetrance is incomplete and some patients are asymptomatic while others have very mild clinical manifestations. Caused by heterozygous mutations in the STAT1 gene on chromosome 2q32.2-q32.3 encoding the signal transducer and activator of transcription 1. Two distinct forms have been described: one affecting phosphorylation and the other impairing DNA-binding activity. Transmission is autosomal dominant.	Preferred (foundation metadata concept)
A genetic variant of mendelian susceptibility to mycobacterial disease with characteristics of a partial deficiency leading to impaired IFN-gamma immunity and consequently recurrent moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. Caused by heterozygous mutations in the IFNGR1 gene on chromosome 6q23-q24 that encodes the IFN-gamma receptor ligand binding chain. Microdeletion 818del4 is by far the most common mutation and it corresponds to the first documented hotspot for a microdeletion in the human genome. It leads to the expression of IFN-gamma receptor on the cell surface with no signal transduction and therefore patients only show a partial response to IFN-gamma. Transmission is autosomal dominant.	Preferred (foundation metadata concept)
A genetic variant of mendelian susceptibility to mycobacterial disease with characteristics of partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and consequently to recurrent moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. Caused by a heterozygous mutation in the IFNGR2 gene on chromosome 21q22.1-22.2 that encodes the IFN-gamma receptor ligand binding chain 2. The 186delC mutation corresponds to the first mutation conferring an AD partial IFN-gammaR2 deficiency.	Preferred (foundation metadata concept)
A genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) with characteristics of a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. These infections are recurrent but less severe than those seen in MSMD due to complete IFN-gammaR1 and IFN-gammaR2 deficiencies. Caused by homozygous mutations in the IFNGR1 gene on chromosome 6q23-q24 that encodes the IFN-gamma receptor ligand binding chain. The most common mutation is, by far, I87T. This mutation leads to the expression of IFN-gamma receptors on the cell surface with no signal transduction capacity and they therefore only show a partial response to IFN-gamma. Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) with characteristics of a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. Only one patient has been reported with this variant to date. Caused by a homozygous mutation (R114C) in IFNGR2 on chromosome 21q22.1-22.2 that encodes the IFN-gamma receptor ligand binding chain. This mutation leads to a residual cellular response to IFN-gamma in terms of IL12p40 production. Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A genetic variant of mendelian susceptibility to mycobacterial diseases characterized by Bacille Calmette-Guerin (BCG) infections. The prevalence is unknown. Caused by mutations in the ISG15 gene (1p36.33), which encodes an IFN-alpha/beta inducible, ubiquitin-like intracellular protein. These mutations impair ISG15 secretion by leukocytes, a molecule which plays an essential role as an IFN-gamma-inducing secreted molecule needed for optimal antimycobacterial immunity. Inherited in an autosomal recessive manner.	Preferred (foundation metadata concept)
A genetic variant of mendelian susceptibly to mycobacterial disease with characteristics of a complete deficiency in interferon gamma receptor 2, leading to an undetectable response to interferon gamma and consequently to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. The prevalence is unknown. Only ten children have been identified to date. This disease is caused by mutations in IFNGR2 on chromosome 21q22.1-22.2 which encodes the IFN-gamma receptor signal transducing chain, essential for IFN-gamma mediated immunity. Two clinically indistinguishable forms have been reportedly defined by the presence or absence of protein expression on the cell surface.	Preferred (foundation metadata concept)
A genetically inherited anomaly of glycogen metabolism and a form of glycogen storage disease characterized by fasting hypoglycemia. It is an extremely rare disease; about 20 cases have been reported in the literature so far. The disease appears in infancy or in early childhood. Patients present with morning fatigue and fasting hypoglycemia (without hepatomegaly) associated with hyperketonemia but without hyperalaninemia or hyperlactacidemia. After meals, major hyperglycemia associated with lactate and alanine increase and hyperlipidemia is observed. Caused by mutations in the GYS2 gene (12p12.2). Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A genodermatosis with characteristics of the presence of multiple hamartomas of the hair follicle. It has been described in one family so far.	Preferred (foundation metadata concept)
A gingival route that begins beneath the free margin of the gingivae.	Preferred (foundation metadata concept)
A glomerular disease with characteristics of severe renal failure and nephrotic syndrome at birth, which rapidly improves in the first weeks of life. The disorder has been described in 15 infants from 5 families originating from Portugal, the Netherlands, Italy, Germany and Morocco. The disease is a congenital disorder where infants present at birth with nephrotic syndrome, acute renal failure (oligoanuria and proteinuria), or both. Respiratory distress and hypertension are also observed during the first days of life. Some degree of dysmorphism may be observed in some cases. Mothers do not show any renal manifestations. Caused by the transplacental transfer of nephritogenic anti-NEP antibodies (IgG1, IgG4 subtypes) from mothers with truncating mutations of the MME gene (3q25.2; coding for NEP), resulting in a functional knockout of MME.	Preferred (foundation metadata concept)
A glycogen storage disease of adults with characteristics of progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia. The prevalence is unknown. More than 50 cases have been described to date in Ashkenazi (in most cases) and non-Ashkenazi Jewish individuals. Presents after the age of 40, with urinary incontinence (indicative of neurogenic bladder) often being the first manifestation. Caused by a mutation in the GBE1 gene, encoding the glucan (1, 4-alpha-) branching enzyme 1 (GBE).	Preferred (foundation metadata concept)
A graft derived from hair-bearing skin.	Preferred (foundation metadata concept)
A graft of small pieces or strips placed apart from each other on the wound or defect.	Preferred (foundation metadata concept)
A graft of the epidermis and less than the entire thickness of the dermis of the skin.	Preferred (foundation metadata concept)
A graft of the epidermis and the entire thickness of the dermis of the skin.	Preferred (foundation metadata concept)
A granulomatous, inflammatory disorder of the eye; reaction to vegetable or insect hairs.	Preferred (foundation metadata concept)
A group of anomalies that may result from maternal infection and subsequent fetal infection with the Herpes virus. The virus causes recurrent cutaneous infections in adults, often involving the lips or the genitalia. Herpes infections in other organs, such as the liver or central nervous system, are less frequent. Pregnancy complications including preterm delivery, intrauterine growth retardation, and neonatal infection have been attributed to the Herpes virus. Exposure of the fetus to Herpes virus at the time of delivery carries a serious risk of infection for the newborn.	Preferred (foundation metadata concept)
A group of autosomal recessive disorders affecting the formation of functional peroxisomes, with characteristics of sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment and is comprised of the phenotypic variants Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease. The mutations found in 90% of PBD-ZSS patients are in the PEX1, PEX6, PEX10, PEX12 or PEX26 genes. Impaired metabolism results in the accumulation of very-long-chain fatty acids which damage developing neural cells. Accumulation of toxic bile acid intermediates damages the liver. The decreased synthesis of docosahexanoic acid (DHA) and ether phospholipids (plasmalogens) impairs cell membranes.	Preferred (foundation metadata concept)
A group of disorders including ankylosing spondylitis, axial spondylarthritis, spondyloarthritis due to inflammatory bowel disease, and other conditions. They share the common features of inflammation of axial joints, asymmetric oligoarthritis, dactylitis, and enthesitis.	Preferred (foundation metadata concept)
A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.	Preferred (foundation metadata concept)
A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).	Preferred (foundation metadata concept)
A group of inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. This group includes biotinidase deficiency and biotin holocarboxylase synthetase deficiency.	Preferred (foundation metadata concept)
A group of mitochondrial DNA maintenance syndrome diseases with characteristics of predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.	Preferred (foundation metadata concept)
A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.	Preferred (foundation metadata concept)
A group of rare autosomal recessive forms of ichthyosis with clinical characteristics of superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. Presents with either an acral or a generalized distribution.	Preferred (foundation metadata concept)
A group of rare central nervous system malformations with characteristics of varying degrees of absence or dysplasia of the derivatives of the prosencephalon (i.e. telencephalon and diencephalon), with an intact cranial vault. The spectrum comprises atelencephaly, the less severe form, in which only the telencephalon is affected, and aprosencephaly, where the diencephalon is also involved. The malformations may occur in an isolated form or in association with other anomalies.	Preferred (foundation metadata concept)
A group of rare genetic developmental defect during embryogenesis disorders with the association of sensorineural deafness and onychodystrophy (for example absent/hypoplastic finger and toenails) as well as brachydactyly and finger-like thumbs.	Preferred (foundation metadata concept)
A group of rare genetic neurodegenerative diseases with characteristics of infancy to childhood onset of progressive spastic paraplegia (with delayed motor milestones, gait disturbances, hyperreflexia and extensor plantar responses), optic atrophy (which may be accompanied by nystagmus and visual loss) and progressive peripheral neuropathy (with sensory impairment and distal muscle weakness/atrophy in upper and lower extremities). Additional signs may include foot deformities, spinal defects (scoliosis, kyphosis), joint contractures, exaggerated startle response, speech disorders, hyperhidrosis, extrapyramidal signs and intellectual disability. In very rare cases, a variant phenotype with less prominent or absent optic atrophy and/or neuropathy may be observed.	Preferred (foundation metadata concept)
A group of small reddish or purplish spots in skin or mucous membrane as a result of localized hemorrhage.	Preferred (foundation metadata concept)
A group of symptoms which may be observed in the fetus or newborn when the mother has taken indomethacin, a nonsteroidal anti-inflammatory drug during pregnancy. The drug crosses the human placenta readily throughout gestation, but its effects on the embryo/fetus vary according to the stage of pregnancy.	Preferred (foundation metadata concept)
A group of tyrosine related oculocutaneous albinism (OCA1) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS). The phenotypic spectrum seen in OCA1 is variable. Pigmentation present in the skin, hair and eyes can range from little or none to pigmentation only to the peripheries. Findings of nystagmus, photophobia and reduced visual acuity are often present. The disease is caused by a mutation in the TYR gene located on chromosome 11q14.3 encoding tyrosinase. Mutations in OCA1A and OCA1B lead to a total or partial loss of the catalytic activity of tyrosinase while those in OCA1-MP and OCA1-TS lead to minimal activity or temperature sensitive tyrosinase proteins. The different forms of OCA1 are all transmitted autosomal recessively.	Preferred (foundation metadata concept)
A grouping of primary and secondary sites of somatic dysfunction describing a three-segment complex fundamental to dysfunction in a mobile system. Each adjacent segment, above and below the primary locus, demonstrates opposing asymmetries to that locus.	Preferred (foundation metadata concept)
A grouping term for a collective of languages known as the Altaic languages.	Preferred (foundation metadata concept)
A health examination for a member of a population with limited access to healthcare services, such as those on low income, those from a minority ethnic background or those with a language barrier.	Preferred (foundation metadata concept)
A healthcare professional that possesses expertise in a clinical domain and provides advice on the diagnosis and management of individuals with conditions related to that domain.	Preferred (foundation metadata concept)
A hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease).	Preferred (foundation metadata concept)
A helmet that is worn as protection for the head in the event of a vehicular accident	Preferred (foundation metadata concept)
A hematological neoplasm characterized by clonal proliferation of myeloid precursors in the bone marrow, blood and other tissues (spleen, liver), with clinical, morphological and molecular features of myeloproliferative neoplasms (MPN), failing to meet criteria of a specific MPN. The presentation is nonspecific and variable and often includes leukocytosis, thrombocytosis and anemia. Splenomegaly, hepatomegaly as well as fatigue, malaise or weight loss may appear in advanced stages.	Preferred (foundation metadata concept)
A hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer. Disease onset can occur at any age, but is more common in young adults and elderly patients. Multiple or single benign cutaneous leiomyomas are common. Uterine leiomyomas (present in 77% of women with HLRCC), also known as fibroids, usually appear around the age of 30. Caused by a mutation in the FH gene (1q42.1) encoding the enzyme fumarate hydratase (FH) that metabolizes the fumarate produced during the purine nucleotide cycle and arginine synthesis in the cytoplasm. Mode of inheritance is autosomal dominant.	Preferred (foundation metadata concept)
A hereditary demyelinating motor and sensory neuropathy with characteristics of slowed nerve conduction velocities in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene.	Preferred (foundation metadata concept)
A hereditary disorder associated with impaired DNA double-strand break repair mechanisms with characteristics of microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency. Caused by mutations in the LIG4 gene (13q22-q34). The resulting defect of DNA ligase IV, a component of the classical non-homologous end-joining (NHEJ) pathway, affects the major mechanism of DNA double-strand break repair. Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A hereditary neurological disorder with characteristics of excessive startle responses. The disease manifests shortly after birth with violent jerking to noise and touch, and massive and sustained stiffening of the trunk and limbs, clenching fists, and attacks of a high frequency trembling. Motor milestones are often mildly delayed, but intellectual development is usually normal. Mutations in the GLRA1 gene (5q32) are found in about 30% of patients. These mutations are transmitted as an autosomal dominant or recessive trait. The GLRA1 gene encodes the alpha1 subunit of the juvenile neuronal receptor for the inhibitory neurotransmitter, glycine. Mutations of this subunit cause a variety of dysfunctions of the neuronal chloride (Cl-) channel. Mutations in the GLRB, GPHN and SLC6A5 genes (4q31.3, 14q24 and 11p15.2-p15.1) have also been observed.	Preferred (foundation metadata concept)
A hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families. Some patients show intellectual deficit. Epilepsy is a late manifestation and seizures may be life threatening. Caused by mutations in the C10orf2 gene (10q24) encoding the mitochondrial helicase Twinkle. The c.1523A>G (p.Y508C) causative mutation has been postulated to be a founder mutation. The mutations lead to mtDNA depletion in the brain and the liver but not in the muscle. Inherited in an autosomal recessive manner.	Preferred (foundation metadata concept)
A hereditary palmoplantar keratoderma with characteristics of the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.	Preferred (foundation metadata concept)
A hereditary renal cancer syndrome defined as development of hereditary clear cell renal cell carcinoma (ccRCC) in two or more family members without evidence of constitutional chromosome 3 translocation, von Hippel-Lindau disease or other neoplasm predisposing syndromes associated with ccRCC, such as tuberous sclerosis or Birt-Hogg-Dubbe syndrome.	Preferred (foundation metadata concept)
A hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia. Other features include slow growth, short stature, skeletal deformities, muscle weakness and bone pain that are associated with normal or elevated plasma levels of calcitriol and hyperphosphaturia. Caused by homozygous or compound heterozygous mutations in the SLC34A3 gene encoding a sodium-dependent phosphate transporter (NaPi-IIc/NPT2c). Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A heterogeneous group disorders characterized by short, brittle hair with low-sulfur content (due to an abnormal synthesis of the sulfur containing keratins). The abnormalities are usually obvious at birth, with variable clinical expression. Trichothiodystrophy is an autosomal recessive disorder. In the photosensitive group 95% have mutations within the XPD (ERCC2) gene (localized to 19q13.2-q13.3). The remaining cases are caused by mutations within the XPB gene. So far, no gene has been isolated for the nonphotosensitive group. The variants of Trichothiodystrophy depending on their different associations are: BIDS syndrome, IBIDS syndrome, PIBIDS syndrome, Sabinas syndrome, SIBIDS syndrome, Itin syndrome and Pollitt syndrome.	Preferred (foundation metadata concept)
A heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. Three types of PFIC have been identified and are related to mutations in hepatocellular transport system genes involved in bile formation. Main clinical manifestations include cholestasis, pruritus and jaundice.	Preferred (foundation metadata concept)
A heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. Characteristics are platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. The different forms of spondylometaphyseal dysplasia are distinguished by the localization and severity of involvement of the affected metaphyses.	Preferred (foundation metadata concept)
A heterogeneous group of endocrine disorders with characteristics of normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP). PHP-1a, PPHP, and PHP-1b are all due to molecular defects in the same locus of the GNAS (20q13.2-q13.3) gene coding the alpha sub-unit of the stimulatory G protein. PHP can be sporadic or inherited autosomal dominantly with parental imprinting.	Preferred (foundation metadata concept)
A histological subtype of C3 glomerulopathy with characteristics of C3 deposition in renal tissue in the absence or near-absence of immunoglobulin deposits, in a patient with the classic clinical features of glomerulonephritis and electron microscopic findings of highly electron-dense intra-membranous, osmiophilic deposits.	Preferred (foundation metadata concept)
A history taken by a self-administered questionnaire	Preferred (foundation metadata concept)
A horizontal streak found on the inner surface of the cheek at the level of the biting plane. It usually extends from the commissure to the posterior teeth and can extend to the inner lip mucosa and corners of the mouth. It is a common finding and most likely associated with pressure, frictional irritation, or sucking trauma from the facial surfaces of the teeth.	Preferred (foundation metadata concept)
A hypersensitivity condition of skin or mucous membranes at the site of direct surface contact with irritants or allergens. A general class that includes both immunologic and non-immunologic conditions.	Preferred (foundation metadata concept)
A keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenar, hypothenar and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. The disease is transmitted in an autosomal dominant manner with incomplete penetrance. Caused by heterozygous mutation in the gene encoding connexin-26 (GJB2; 121011) on chromosome 13q12.	Preferred (foundation metadata concept)
A keratotic cutaneous polyp containing abundant connective tissue.	Preferred (foundation metadata concept)
A landmark point defined as the tip of the bony anterior nasal spine at the inferior margin of the piriform aperture, in the midsagittal plane.	Preferred (foundation metadata concept)
A large or giant congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes and presenting with an elevated risk of malignant transformation. An LCMN is a darkly colored, circumscribed area of the skin sometimes covered with dense hair or proliferative nodules, and/or accompanied by multiple small satellite nevi that develop at birth or during early childhood (tardive satellites). Patients with LCMN also present an elevated risk of malignant pediatric melanoma, particularly intracranial, and other neuroectodermal tumors of varying severity. LCMN is a neurocristopathy (a disorder of the development of the embryonic neural crest) but its etiology is unknown. Familial cases have been observed, but the vast majority of LCMN cases are sporadic.	Preferred (foundation metadata concept)
A large organ in the thorax, abdomen, or pelvis	Preferred (foundation metadata concept)
A legal order for a diet regime.	Preferred (foundation metadata concept)
A legal order for a parenteral nutrition infusion.	Preferred (foundation metadata concept)
A legal order for an enteral nutrition infusion via a feeding tube.	Preferred (foundation metadata concept)
A legal order to dispense and possibly prepare a substance or physical object	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)