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 dose form that displays properties between those of a liquid and those of a solid.	Preferred (foundation metadata concept)
A dose form that displays properties of a gas.	Preferred (foundation metadata concept)
A dose form that displays properties of a liquid.	Preferred (foundation metadata concept)
A dose form that displays properties of a solid.	Preferred (foundation metadata concept)
A dose form that is an assembly of components for intrauterine delivery driven by external forces.	Preferred (foundation metadata concept)
A dose form that is an assembly of components for transdermal delivery driven by external forces.	Preferred (foundation metadata concept)
A dose form transformation that occurs immediately before administration, often when the dose form is subjected to heat either directly or by addition to hot water to create the vapor.	Preferred (foundation metadata concept)
A dose form transformation that occurs when a solid dose form is mixed with a suitable liquid to create a solution. This may occur as part of the dispensing act or immediately before administration.	Preferred (foundation metadata concept)
A dose form transformation that occurs when a solid or liquid dose form is mixed with a suitable liquid to create a suspension or when a solid dose form is mixed with a suitable liquid to create a solution. This may occur as part of the dispensing act or immediately before administration.	Preferred (foundation metadata concept)
A dose form transformation that occurs when a solid or liquid dose form is mixed with a suitable liquid to create a suspension. This may occur as part of the dispensing act or immediately before administration.	Preferred (foundation metadata concept)
A drug hypersensitivity reaction with a relatively long latency period after exposure characterized by rash, fever, lymphadenopathy, hematologic abnormalities including eosinophilia and atypical lymphocytosis and internal organ involvement. Clinical presentation is highly variable. Eosinophilia is present in 50-90% of cases.	Preferred (foundation metadata concept)
A duplicated gallbladder resulting from an accessory gallbladder, which may be ductular or trabecular.	Preferred (foundation metadata concept)
A dysostosis with predominant vertebral and costal involvement and characteristics of oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.	Preferred (foundation metadata concept)
A facility whose role is to provide care from the night to the morning hours.	Preferred (foundation metadata concept)
A faint	Acceptable (foundation metadata concept)
A familial condition where too much aldosterone is produced by the adrenal glands which can lead to lowered levels of potassium in the blood.	Preferred (foundation metadata concept)
A familial form of essential thrombocythemia, a myeloproliferative disorder characterized by a sustained elevation of platelet number with a tendency for thrombosis and hemorrhage. Patients commonly manifest microcirculatory disturbances or vaso-motor events. The disease is less frequently associated with an increased risk of hemorrhage, mild splenomegaly, and progression towards myelofibrosis with myeloid metaplasia or transformation to leukemia. The genetic cause of the inherited predisposition is not known. Transmission appears to be autosomal dominant with incomplete penetrance.	Preferred (foundation metadata concept)
A familial predisposition for developing bilateral and multifocal type 1 papillary renal carcinoma. Transmitted as an autosomal dominant trait with reduced penetrance, the syndrome is associated with germline mutations in the MET proto-oncogene (7q31).	Preferred (foundation metadata concept)
A familial syndrome characterized by gastrointestinal stromal tumors and paragangliomas, often at multiple sites. It is a very rare syndrome presenting at a young age. The gastric stromal sarcomas are multifocal and the paragangliomas are multicentric. The clinical spectrum of this syndrome varies widely, depending on the localization and the size of the tumors. The vast majority of cases are due to germline mutations of the succinate dehydrogenase (SDH) subunit genes SDHB, SDHC and SDHD. Predisposition to developing these tumors is inherited in an autosomal dominant manner with incomplete penetrance.	Preferred (foundation metadata concept)
A fatal malformative disorder with characteristics of Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988.	Preferred (foundation metadata concept)
A fibroma of the gums with calcification and possibly ossification	Preferred (foundation metadata concept)
A financial audit to review and/or verify charges	Preferred (foundation metadata concept)
A financial procedure that assesses a financial situation	Preferred (foundation metadata concept)
A finding of decreased blood pressure; not necessarily hypotensive disorder	Preferred (foundation metadata concept)
A finding of increased blood pressure; not necessarily hypertensive disorder	Preferred (foundation metadata concept)
A finding of mandible bone height in edentulous patients by examination of the oral cavity in prosthodontics; part of prosthodontic classification in assessment for dentures/devices.	Preferred (foundation metadata concept)
A first aid technique to unblock the airway in cases of choking. when abdominal thrusts would be dangerous (such as in infants) or impossible (such as in pregnant women). In a chest thrust, the first-aider places a fist in the other hand, and, pressing against the lower breastbone, thrusts the chest wall inwards up to five times. The pressure simulates the coughing reflex and may expel the obstruction.	Preferred (foundation metadata concept)
A first neurologic episode caused by inflammation/demyelination of one or more central nervous system sites that lasts at least 24 hours.	Preferred (foundation metadata concept)
A fistula route that begins within a mucous fistula.	Preferred (foundation metadata concept)
A fixation that is being revised	Preferred (foundation metadata concept)
A fixation that joins together two body parts, rendering them immobile with respect to each other	Preferred (foundation metadata concept)
A flat lesion, less than 2 cm in diameter, not raised above the surface of the surrounding skin	Preferred (foundation metadata concept)
A flat mandibular plane angle correlates with short anterior facial vertical dimensions (height) and anterior deep bite malocclusion.	Preferred (foundation metadata concept)
A fluid-filled, raised, often translucent lesion, greater than 1 cm in diameter	Preferred (foundation metadata concept)
A follicular lesion of the thyroid encompasses a wide range of diseases, and refers to the microscopic finding of follicular cells before a specific diagnosis.	Preferred (foundation metadata concept)
A force that approximates two structures.	Preferred (foundation metadata concept)
A form of Charcot-Marie-Tooth disease type 1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood). Usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis.	Preferred (foundation metadata concept)
A form of Charcot-Marie-Tooth disease type 1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. The disease has characteristics of progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. Caused by mutations in the NEFL gene (8p21.2).	Preferred (foundation metadata concept)
A form of Ehlers-Danlos syndrome (EDS) with characteristics of distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations.	Preferred (foundation metadata concept)
A form of Ehlers-Danlos syndrome (EDS) with characteristics of extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and sometimes major complications due to visceral and vascular fragility.	Preferred (foundation metadata concept)
A form of Ehlers-Danlos syndrome (EDS) with characteristics of joint hypermobility, skin hyperextensibility and cardiac valvular defects.	Preferred (foundation metadata concept)
A form of Ehlers-Danlos syndrome (EDS) with characteristics of premature ageing with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia and defective wound healing with atrophic scars.	Preferred (foundation metadata concept)
A form of Ehlers-Danlos syndrome (EDS) with characteristics of severe kyphoscoliosis in conjunction with sensorineural hearing impairment and normal urinary pyridinoline excretion.	Preferred (foundation metadata concept)
A form of Ehlers-Danlos syndrome (EDS), with characteristic of spontaneous dissection of medium-sized arteries during young adulthood including mainly the iliac, femoral and renal arteries.	Preferred (foundation metadata concept)
A form of Ehlers-Danlos syndrome that affects the soft connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility.	Preferred (foundation metadata concept)
A form of Ehlers-Danlos syndrome with characteristics of hypotonia, kyphoscoliosis at birth and joint hyperextensibility.	Preferred (foundation metadata concept)
A form of Parkinson disease with age of onset between 21 and 45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints, falls and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most forms. The exact etiology is still unknown. Gene mutations have been implicated in some cases, most cases are sporadic however familial cases have been reported in which an autosomal recessive mode of inheritance has been suggested.	Preferred (foundation metadata concept)
A form of Parkinson disease with age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non-motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia. The exact etiology is still unknown but mutations in the genes SNCA (4q21.3-q22), LRRK2 (12q12), and VPS35 (16q12) have been implicated in its pathogenesis. Transmission is autosomal dominant.	Preferred (foundation metadata concept)
A form of T and B cell immunodeficiency with characteristics of recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE). Patients present in childhood with symptoms including atopic dermatitis, severe food and environmental allergies, asthma, recurrent upper and lower respiratory tract infections including otitis media, recurrent sinusitis, bronchitis and pneumonia, and extensive cutaneous viral and bacterial infections. Caused by homozygous or compound heterozygous deletions and point mutations in the DOCK8 gene (9p24), which leads to an absence of DOCK8 protein in lymphocytes, resulting in low absolute T and B lymphocyte counts, mild-to-moderate eosinophilia and very high levels of serum IgE. Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A form of acromelic dysplasia with the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits which all appear short), epiphyseal changes in the hips and in some, abnormal dentition and delayed bone age. A rare disease with less than 20 cases reported in the literature, however, it is likely under diagnosed. Caused by mutations in the growth differentiation factor 5 (GDF5) gene, located on chromosome 20q11.2, encoding CDMP1 (cartilage derived morphogenetic protein). CDMP1 belongs to the TGF beta super family and plays a role in bone growth and joint morphogenesis. Transmitted as an autosomal dominant condition.	Preferred (foundation metadata concept)
A form of amelogenesis imperfecta characterized by incomplete formation of the dental enamel and transmitted as an X-linked or autosomal dominant trait.	Preferred (foundation metadata concept)
A form of amyloidosis with characteristics of the accumulation and extensive visceral deposition of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.	Preferred (foundation metadata concept)
A form of arthrogryposis multiplex congenital characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is caused by neurogenic muscular atrophy.	Preferred (foundation metadata concept)
A form of athetoid cerebral palsy with bilateral involuntary movements.	Preferred (foundation metadata concept)
A form of autosomal dominant optic atrophy with characteristics of early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. Caused by mutations in the OPA3 gene (19q13.32).	Preferred (foundation metadata concept)
A form of autosomal dominant optic atrophy with characteristics of progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.	Preferred (foundation metadata concept)
A form of axonal Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy. A late onset with severe sensory loss associated with distal weakness mainly of the legs and absent or reduced deep tendon reflexes.	Preferred (foundation metadata concept)
A form of axonal Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy. Onset is in the first to sixth decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and after years all patients have a pes cavus. Other signs may be present including hearing loss and postural tremor.	Preferred (foundation metadata concept)
A form of axonal Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy. Presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor.	Preferred (foundation metadata concept)
A form of axonal Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy. Relatively late onset papillary abnormalities and deafness in most patients associated with distal weakness and muscle atrophy.	Preferred (foundation metadata concept)
A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy with characteristics of congenital pstosis and early cataract. Associated with a mildly progressive peripheral neuropathy of variable onset from birth to the sixth decade, pes cavus, reduced to absent ankle tendon reflexes and sometimes neutropenia.	Preferred (foundation metadata concept)
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with distal weakness primarily and predominantly occurring in the upper limbs.Tendon reflexes are absent or reduced in the arms and decreased in the legs. Progression is slow.	Preferred (foundation metadata concept)
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with onset associated with development of foot deformity and walking difficulties between the first and the eighth decades. Weakness and sensory loss involve primarily the legs and ankles, tendon reflexes are reduced. The disease has a slowly progressive course.	Preferred (foundation metadata concept)
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with symmetric weakness primarily occurring in the lower limbs and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. Presents with gait anomaly between the first and sixth decade and early onset is generally associated to a more severe phenotype that may include foot drop.	Preferred (foundation metadata concept)
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with the association of vocal cord anomalies, impairment of respiratory muscles, sensorineural hearing loss and weakness of hands and feet. Onset is between infancy and the sixth decade.	Preferred (foundation metadata concept)
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.	Preferred (foundation metadata concept)
A form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia. Prevalence of this form is not known. The disorder is not associated with mutations in the HBB gene (11p15.5), but with mutations in the gene encoding GATA-binding protein-1 (GATA1; Xp11.23) that result in reduced expression of the beta-globin genes. Transmission is X-linked.	Preferred (foundation metadata concept)
A form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features. It has been reported in one family.	Preferred (foundation metadata concept)
A form of cerebral palsy where no predominant motion can be determined; when it is a mixed CP form, i.e. spasticity with ataxia and/or dyskinesia, the child should be classified according to the dominant clinical feature	Preferred (foundation metadata concept)
A form of cerebral palsy with characteristics of congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking. Mean age at diagnosis is 6 years. The main clinical features are spasticity and limited movements around the mouth and throat from an early age, and brisk jaw jerks. Most cases are sporadic but several families with more than one affected member have been reported. Inheritance in these families appeared to follow an autosomal dominant pattern with variable expression and penetrance.	Preferred (foundation metadata concept)
A form of chronic oral candidosis involving multiple oral sites with angular cheilitis, retrocommissural leukoplakia, median rhomboid glossitis and palatal lesions.	Preferred (foundation metadata concept)
A form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur.	Preferred (foundation metadata concept)
A form of combined T and B cell immunodeficiency with characteristics of severe and persistent cytomegalovirus infection and autoimmune cytopenia. Patients present before the age of one year with severe disseminated cytomegalovirus infection, which can manifest with fever and splenomegaly, and recurrent and severe co-infections including sepsis and pneumonitis. Caused by hypomorphic mutation in the RAG1 gene (11p13). This results in oligoclonal expansion of T cell receptor (TCR) gamma-delta T cells and TCR alpha-beta T cell lymphopenia. Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A form of combined immunodeficiency characterized by recurrent viral, bacterial, mycobacterial and fungal infections from birth, chronic diarrhea, pneumonia, meningitis, enteritis, gastrointestinal candidiasis, sepsis and otitis media. All patients present with ectodermal dysplasia that is characterized by hypocalcified amelogenesis imperfecta and leads to the loss of soft dental enamel. In addition, patients present at birth with congenital myopathy, which is characterized by non-progressive generalized muscular dysplasia. Caused by mutations in the ORAI1 and STIM1 genes (12q24 and 11p15.5). Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A form of congenital disorder of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminemia, life-threatening intestinal bleeding of diffuse origin) and thrombotic events (protein C and S deficiency, low anti-thrombin III levels). Neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).	Preferred (foundation metadata concept)
A form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate, retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).	Preferred (foundation metadata concept)
A form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).	Preferred (foundation metadata concept)
A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures and recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23).	Preferred (foundation metadata concept)
A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.	Preferred (foundation metadata concept)
A form of congenital disorders of N-linked glycosylation with characteristics of developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. Caused by mutations in the gene STT3A (11q23.3).	Preferred (foundation metadata concept)
A form of congenital disorders of N-linked glycosylation with characteristics of distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retro-micrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21).	Preferred (foundation metadata concept)
A form of congenital disorders of N-linked glycosylation with characteristics of facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21).	Preferred (foundation metadata concept)
A form of congenital disorders of N-linked glycosylation with characteristics of facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3).	Preferred (foundation metadata concept)
A form of congenital disorders of N-linked glycosylation with characteristics of failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).	Preferred (foundation metadata concept)
A form of congenital disorders of N-linked glycosylation with characteristics of intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3).	Preferred (foundation metadata concept)
A form of congenital disorders of N-linked glycosylation with characteristics of intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. Caused by mutations in the gene STT3B (3p24.1).	Preferred (foundation metadata concept)
A form of congenital disorders of N-linked glycosylation with characteristics of neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4 (Xq28).	Preferred (foundation metadata concept)
A form of congenital disorders of N-linked glycosylation with characteristics of poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1).	Preferred (foundation metadata concept)
A form of congenital disorders of N-linked glycosylation with characteristics of progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).	Preferred (foundation metadata concept)
A form of congenital disorders of N-linked glycosylation with characteristics of psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).	Preferred (foundation metadata concept)
A form of congenital disorders of N-linked glycosylation with characteristics of severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita, vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). Caused by loss-of-function mutations of the gene ALG3 (3q27.3).	Preferred (foundation metadata concept)
A form of cyanosis that occurs when there is a decrease in oxygen saturation in the arterial blood, usually with an SaO2 of below 75%.	Preferred (foundation metadata concept)
A form of diazoxide-sensitive diffuse hyperinsulinism caused by a lowered threshold for insulin release. Characterized by excessive/uncontrolled insulin secretion and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Activating mutations of GCK (7p15.3-p15.1) that encodes glucokinase have been identified as the cause.	Preferred (foundation metadata concept)
A form of diazoxide-sensitive diffuse hyperinsulinism characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. Patients present with recurring episodes of hypoglycemia associated with elevated insulin levels, within 30 minutes of a short period of anaerobic exercise. The degree of hypoglycemia associated with exercise is variable and is only partially responsive to diazoxide. Mutations in the promoter element of SLC16A1 leads to an inappropriate presence of monocarboxylic acid transporter 1(MCT1). Mutations of the promoter region of SLC16A1 that permit gene expression in pancreatic beta-cells identified to date are dominant.	Preferred (foundation metadata concept)
A form of diazoxide-sensitive diffuse hyperinsulinism characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.	Preferred (foundation metadata concept)
A form of diazoxide-sensitive diffuse hyperinsulinism characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations.	Preferred (foundation metadata concept)
A form of diazoxide-sensitive diffuse hyperinsulinism characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Usually has a milder phenotype when compared to that resulting from recessive K+ channel mutations.	Preferred (foundation metadata concept)
A form of diazoxide-sensitive diffuse hyperinsulinism characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia, responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1. The disease frequently presents as neonatal hypoglycemia. All patients are responsive to medical management with diazoxide. Family history of diabetes is usually, but not always present. Caused by mutations in HNF4A gene (20q13.12). The transmission is autosomal dominant with variable penetrance.	Preferred (foundation metadata concept)
A form of diazoxide-sensitive diffuse hyperinsulinism, characterized by transient or persistent hyperinsulinemic hypoglycemia in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 later in life.	Preferred (foundation metadata concept)
A form of diffuse palmoplantar keratoderma that occurs between the ages of 5 and 15 and may be associated with the subsequent development of esophageal cancer.	Preferred (foundation metadata concept)

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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)