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 state of matter where particles conform to the shape of their container and expand to fill the container.	Preferred (foundation metadata concept)
A state of matter where particles conform to the shape of their container and keep a constant volume independent of pressure (if temperature stable).	Preferred (foundation metadata concept)
A state of matter where particles form a definite shape and support their own weight but have the ability to flow like a liquid when pressure is applied.	Preferred (foundation metadata concept)
A state of matter where particles form a stable, definite shape that can only change by force (e.g. break, cut).	Preferred (foundation metadata concept)
A state where someone is vocally restless, uneasy, or disturbed. This may manifest as raised volume, accelerated speech rate, repetition of phrases, or increased emotional tone.	Preferred (foundation metadata concept)
A status of being neither employed nor unemployed for example students, the retired, carers and also those who are not in work or seeking work.	Preferred (foundation metadata concept)
A status of immunization which is suboptimal for a person.	Preferred (foundation metadata concept)
A stent using a collagen derived noninflammatory gelatin material.	Preferred (foundation metadata concept)
A stepdown or lower dependency care unit from cardiac intensive care.	Preferred (foundation metadata concept)
A sterile implantable device intended to be used as an attachment for a resurfacing humeral head prosthesis joint to treat a disease-damaged (e.g., arthritic) shoulder joint. It consists of a metallic peg [e.g., titanium (Ti), cobalt-chrome (Co-Cr), stainless steel] inserted into the humeral head so that the prosthesis on the humeral articulating surface can be attached.	Preferred (foundation metadata concept)
A sterile, battery-powered, electromechanical device assembly intended to compensate for impaired hearing by transmitting vibrations, from transduced sound waves, through the skull to the inner ear. It typically consists of a self-contained microphone, amplifier, and vibrator mounted on a titanium (Ti) post which is implanted into the skull, typically the mastoid bone, and protrudes through the skin. Sound waves are converted into electrical signals and sent to the vibrator, which transmits vibrations directly through bone to the inner ears for hearing. It is used to treat hearing impairment due to middle and/or outer ear obstructive pathologies or types of conductive hearing loss.	Preferred (foundation metadata concept)
A sterile, flexible, single-lumen tube intended to be introduced into the trachea of a neonate for the administration of exogenous surfactant as part of pulmonary surfactant therapy.	Preferred (foundation metadata concept)
A string of characters that may be parsed and executed to perform a query.	Preferred (foundation metadata concept)
A structurally abnormal heart condition, without symptoms of heart failure, that confers a high risk of progression to symptomatic heart failure.	Preferred (foundation metadata concept)
A structure damaged by an external force	Preferred (foundation metadata concept)
A structured therapeutic program using meditation to develop awareness and acceptance of emotions, thoughts and physical sensations to reduce psychological distress and support and improve wellbeing.	Preferred (foundation metadata concept)
A subdivision of inferior hypogastric plexus, maybe derived from it, that supplies nerves to the rectum	Preferred (foundation metadata concept)
A subdivision of the enteric plexus that lies within the tunica muscularis of the intestinal tract	Preferred (foundation metadata concept)
A subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain).	Preferred (foundation metadata concept)
A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposide, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement.	Preferred (foundation metadata concept)
A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure.	Preferred (foundation metadata concept)
A substance capable of combining with a specific receptor on a cell and initiating the same reaction or activity typically produced by the binding endogenous substance	Preferred (foundation metadata concept)
A substance containing enzymes, mainly amylase, lipase, and protease, obtained from the pancreas of the hog or of the ox. It is a cream-colored, amorphous powder, having a faint, characteristic, but not offensive odor. Its greatest activities are in neutral or faintly alkaline media; more than traces of mineral acids or large amounts of alkali hydroxides make it inert. An excess of alkali carbonate also inhibits its action. Pancreatin contains, in each mg, not less than 25 USP units of amylase activity, not less than 2 USP units of lipase activity, and not less than 25 USP units of protease activity. Pancreatin of a higher digestive power may be labeled as a whole-number multiple of the 3 minimum activities, or may be diluted with lactose, or with sucrose containing not more than 3.25% of starch, or with pancreatin of lower digestive power.	Preferred (foundation metadata concept)
A substance containing enzymes, mainly lipase, with amylase and protease, obtained from the pancreas of the hog. It is a cream-colored, amorphous powder having a faint characteristic, but not offensive odor. Its greatest activities are in neutral or faintly alkaline media; more than traces of mineral acids or large amounts of alkali hydroxides make it inert. An excess of alkali carbonate also inhibits its action. Pancrelipase contains, in each mg, not less than 24 USP units of lipase activity, not less than 100 USP units of amylase activity, and not less than 100 USP units of protease activity.	Preferred (foundation metadata concept)
A substance product produced by living cells that circulates in body fluids (as blood) or sap and produces a specific effect on the activity of cells usually remote from its point of origin	Preferred (foundation metadata concept)
A substance such as a detergent that, when added to a liquid, reduces its surface tension, thereby increasing its spreading and wetting properties	Preferred (foundation metadata concept)
A substance that acts within the body to reduce the physiological activity of another chemical substance.	Preferred (foundation metadata concept)
A substance that alters biochemical processes in a cell by decreasing or increasing the activity of an enzyme.	Preferred (foundation metadata concept)
A substance that can disturb the development of an embryo or fetus and cause a birth defect in the child or halt the pregnancy outright	Preferred (foundation metadata concept)
A substance that causes irritation specifically tending to produce inflammation	Preferred (foundation metadata concept)
A substance that competes with, replaces or inhibits a specific metabolite of a cell and thereby interferes with the cell's normal metabolic functioning.	Preferred (foundation metadata concept)
A substance that destroys or impairs the function of living cells	Preferred (foundation metadata concept)
A substance that forms a complex with metal ions or other substrates	Preferred (foundation metadata concept)
A substance that increases the risk of neoplasms in humans or animals either by directly affecting DNA or inducing neoplasms by other mechanisms	Preferred (foundation metadata concept)
A substance that is produced by a living organism and is toxic, noxious, or poisonous.	Preferred (foundation metadata concept)
A substance that modifies the immune response or the functioning of the immune system.	Preferred (foundation metadata concept)
A subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 with the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported.	Preferred (foundation metadata concept)
A subtype of Charcot-Marie-Tooth disease type 4 with characteristics of childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).	Preferred (foundation metadata concept)
A subtype of Charcot-Marie-Tooth type 4 with characteristics of childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities and the typical Charcot-Marie-Tooth phenotype (i.e. distal muscle weakness and atrophy, and sensory loss). There is evidence this disease is caused by homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q.	Preferred (foundation metadata concept)
A subtype of Ehlers-Danlos syndrome with characteristics of skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers. There is evidence the disease is caused by homozygous mutation of gene SLC39A13 on chromosome 11p11.2.	Preferred (foundation metadata concept)
A subtype of Waardenburg syndrome (WS) with characteristics of congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum. Caused by a heterozygous mutation in the paired box-containing PAX3 gene on chromosome 2q36.1. In the majority of cases, WS1 is transmitted as an autosomal dominant disorder with a large variable inter and intrafamilial expressivity. Some affected patients present with a de novo mutation.	Preferred (foundation metadata concept)
A subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders. It is a very rare disease; approximately 40 cases have been described in the literature. It is determined by acrocephaly, peculiar facies, brachydactyly and syndactyly in the hands, and preaxial polydactyly and syndactyly of the toes. Marked intrafamilial variability is possible. Inherited as an autosomal recessive trait.	Preferred (foundation metadata concept)
A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy.	Preferred (foundation metadata concept)
A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and rarely other tissues. Bone marrow typically shows small hypo-lobated megakaryocytes and multilineage dysplasia. Patients typically present with leukocytosis, anemia, and variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported.	Preferred (foundation metadata concept)
A subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and rarely other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly).	Preferred (foundation metadata concept)
A subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 with characteristics of late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, pan modal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated.	Preferred (foundation metadata concept)
A subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease with characteristics of severe, early childhood-onset Charcot-Marie-Tooth neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology. Caused by homozygous mutation in the GDAP1 gene on chromosome 8q21.	Preferred (foundation metadata concept)
A subtype of dystrophic epidermolysis bullosa characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.The disease manifests at birth or during the neonatal period with generalized blistering. Aplasia cutis congenita can also be observed at birth. The disease is caused by mutations within the type VII collagen gene (COL7A1) that lead to an alteration of function or a reduction in the amounts of collagen VII. This impairs collagen VII assembly into anchoring fibrils which anchor the basement membrane to the underlying dermis. This in turn causes reduced skin resistance to minor trauma. Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A subtype of junctional epidermolysis bullosa the condition occurs in childhood or young adulthood. 22 patients in 12 families have been reported to date. Blistering occurs at first around nails, accompanied by nail dystrophy and shedding, and then affects the hands and feet and, to a lesser extent, the elbows, knees, along with atrophic scarring. Other manifestations include disappearance of dermatoglyphs and palmoplantar hyperhidrosis. Extracutaneous involvement is restricted to soft tissue abnormalities of the oral cavity and enamel defects with development of caries. COL17A1 mutations have recently been described in an affected family. The condition follows an autosomal recessive pattern of inheritance.	Preferred (foundation metadata concept)
A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.	Preferred (foundation metadata concept)
A subtype of myelodysplastic syndrome with atypical features of uncertain clinical significance. The term MDS-U (unclassifiable myelodysplastic syndrome) covers cases that cannot be allocated to another subtype of myelodysplastic syndrome after a full diagnostic work-up has been performed including clinical, morphologic, immunophenotypic or cytogenetic testing. One or more cytopenias are a standard feature of MDS-U but other clinical features are variable. The following cases are considered to fall into this subtype: features of refractory cytopenia with uni or multi-lineage dysplasia but with 1% blasts in peripheral blood, unilineage dysplasia with pancytopenia and persistent cytopenia without morphological features of MDS associated with characteristic cytogenetic abnormalities. The etiology is not known but is thought to involve inherited susceptibility or hematopoietic stem cell damage.	Preferred (foundation metadata concept)
A subtype of non-spastic cerebral palsy with involuntary, uncontrolled recurring, and occasionally stereotyped movements with a varying muscle tone; primitive reflex patterns predominate.	Preferred (foundation metadata concept)
A subtype of non-spastic cerebral palsy with loss of muscular coordination with abnormal force and rhythm, and impairment of accuracy; commonly presents with gait and trunk ataxia, poor balance, past pointing, terminal intention tremor, scanning speech, nystagmus and other abnormal eye movements, and hypotonia. Low tone is a prominent feature.	Preferred (foundation metadata concept)
A sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually, the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. An EEG (electroencephalogram) shows generalized spike-wave discharges during the event. A seizure originating at some point within, and rapidly engaging, bilaterally distributed networks.	Preferred (foundation metadata concept)
A sudden pain, usually sharp, occurring during movement, or exacerbated by movement, and prompting cessation of movement	Preferred (foundation metadata concept)
A sudden paroxysm of a predominant arrest (pause) of activities, freezing and immobilization with electrographic correlate, that occurs during the period from birth until 44 weeks postmenstrual age.	Preferred (foundation metadata concept)
A sudden paroxysm of abnormal motor and/or non-motor phenomenon with electrographic correlate that occurs during the period from birth until 44 weeks postmenstrual age.	Preferred (foundation metadata concept)
A sudden paroxysm of abnormal motor and/or non-motor phenomenon with electrographic correlate, or a neonatal electrographic-only seizure (without clinical correlate) that occurs during the period from birth until 44 weeks postmenstrual age.	Preferred (foundation metadata concept)
A sudden paroxysm of abnormal motor and/or non-motor phenomenon with or without electrographic correlate, or a neonatal electrographic-only seizure (without clinical correlate) that occurs during the period from birth until 44 weeks postmenstrual age.	Preferred (foundation metadata concept)
A sudden paroxysm of abnormal motor, non-motor or electrographic-only phenomenon occurring in sequence within a single seizure. No predominant feature can be determined instead the seizure presents with a variety of clinical signs.	Preferred (foundation metadata concept)
A sudden paroxysm of abnormal predominantly motor phenomenon with electrographic correlate that occurs during the period from birth until 44 weeks postmenstrual age.	Preferred (foundation metadata concept)
A sudden paroxysm of abnormal predominantly non-motor phenomenon with electrographic correlate that occurs during the period from birth until 44 weeks postmenstrual age.	Preferred (foundation metadata concept)
A sudden paroxysm of brief (less than 100 milliseconds) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal) with electrographic correlate, that occurs during the period from birth until 44 weeks postmenstrual age.	Preferred (foundation metadata concept)
A sudden paroxysm of distinct alteration of autonomic nervous system function involving cardiovascular, pupillary, gastrointestinal, sudomotor (sweating), vasomotor, or thermoregulatory functions with electrographic correlate, that occurs during the period from birth until 44 weeks postmenstrual age.	Preferred (foundation metadata concept)
A sudden paroxysm of flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles, with electrographic correlate, that occurs during the period from birth until 44 weeks postmenstrual age.	Preferred (foundation metadata concept)
A sudden paroxysm of predominant automatisms, defined as more or less coordinated motor activity with electrographic correlate, that occurs during the period from birth until 44 weeks postmenstrual age.	Preferred (foundation metadata concept)
A sudden paroxysm of regularly repetitive jerking of the same muscle groups which is either symmetric or asymmetric with electrographic correlate, that occurs during the period from birth until 44 weeks postmenstrual age.	Preferred (foundation metadata concept)
A sudden paroxysm of sustained increase in muscle contraction lasting a few seconds to minutes, with electrographic correlate, that occurs during the period from birth until 44 weeks postmenstrual age.	Preferred (foundation metadata concept)
A supernumerary tooth located near the midline of the dental arch between two central incisors.	Preferred (foundation metadata concept)
A supernumerary tooth resembling a molar tooth especially in shape.	Preferred (foundation metadata concept)
A supportive process, characterized by a collaborative counselor-patient/client relationship to establish food, nutrition and physical activity priorities, goals and individualized action plans that acknowledge and foster responsibility for self-care to treat an existing condition and promote health.	Preferred (foundation metadata concept)
A suprabasal subtype of epidermolysis bullosa simplex characterized by generalized oozing erosions, usually in the absence of blisters. Onset of the disease is at birth. Extracutaneous involvement is always present, involving erosions of the soft tissues of the oral cavity and gastrointestinal, genitourinary and respiratory tract abnormalities. The disease is due to mutations in the DSP (6p24) gene encoding desmoplakin. Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A suprabasal subtype of epidermolysis bullosa simplex characterized by generalized superficial erosions and less commonly blistering. Prevalence is unknown but 11 cases have been reported to date. Onset of the disease is usually at birth with skin blistering and generalized erythema which rapidly regresses. The disease is due to mutations in the PKP1 (1q32) gene encoding plakophilin-1. Transmission is autosomal recessive.	Preferred (foundation metadata concept)
A surgical cardiac procedure involving repair of the aortic valve by implanting a replacement valve (within a stent) into the previously implanted aortic valve without removing the old, damaged valve or the previously implanted valve.	Preferred (foundation metadata concept)
A surgical cardiac procedure involving repair of the aortic valve by wedging a replacement valve (within a stent) into the aortic valve without removing the old, damaged valve.	Preferred (foundation metadata concept)
A surgical procedure to remove breast tissue while preserving the nipple and areola and the majority of the skin envelope.	Preferred (foundation metadata concept)
A surgical procedure to remove breast tissue, nipple and areola while preserving the majority of the skin envelope.	Preferred (foundation metadata concept)
A surgical procedure where a catheter is passed through a cut in the chest wall and then through the heart wall (transapical) and positioned across the leaking mitral valve. A bioprosthetic mitral valve is then passed through the tube (transcatheter) and placed within the existing surgically implanted mitral valve ring. The aim is to treat the leaking mitral valve without needing to repeat open-heart surgery.	Preferred (foundation metadata concept)
A surgically correctable form of primary hyperaldosteronism characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland. May be associated with hypokalemia, which, when present, may be symptomatic with muscular weakness, cramps, paresthesia or palpitations with or without atrial fibrillation.The etiology is not known. Unilateral adrenalectomy abolishes aldosterone hypersecretion and hypokalemia in most patients.	Preferred (foundation metadata concept)
A sustained increase in bilateral muscle contraction lasting a few seconds to minutes. A seizure originating at some point within, and rapidly engaging, bilaterally distributed networks.	Preferred (foundation metadata concept)
A syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome. The characteristics of this syndrome are progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect and ureteral anomalies. To date 5 unrelated patients have been reported, including one family with multiple affected persons. This syndrome is due to a non-recurrent microdeletion in 8q13. All patients have a deletion of two contiguous genes: SULF1 and SLCO5A1. Transmitted as an autosomal dominant trait.	Preferred (foundation metadata concept)
A syndrome affecting the development of blood vessels, soft tissue and bone with three characteristic features: port-wine stain, abnormal overgrowth of soft tissues and bones and venous malformations. Caused by mutations in the PIK3CA gene. This gene provides instructions for making the p110 alpha (p110α) protein, which is a subunit of phosphatidylinositol 3-kinase (PI3K). The PIK3CA gene mutations associated with Klippel-Trenaunay syndrome alter the p110α protein. The altered subunit makes PI3K abnormally active, which allows cells to grow and divide continuously. Increased cell proliferation leads to abnormal growth of the bones, soft tissues, and blood vessels. This syndrome is almost always sporadic meaning it can occur in people with no history of the disorder in their family. Studies suggest that the condition results from gene mutations that are not inherited.	Preferred (foundation metadata concept)
A syndrome associating neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatopathy evolving to fibrosis and polycystic kidneys. It has been described in two siblings. Minor facial anomalies were also observed. Two other families presented incomplete forms of this syndrome. Mutations in GLIS3 encoding for the transcription factor GLI similar 3 seem to be responsible for the syndrome.	Preferred (foundation metadata concept)
A syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O). It has been described in six unrelated patients. Capillary malformation of the lower lip is observed in all patients. The overgrowth was noted at birth in three patients but was generalized in only one patient; it was partial in the other patients and involved one or more body segments. Inheritance of this association is not known.	Preferred (foundation metadata concept)
A syndrome described in three members of a family (a boy, his father and his paternal grandmother) with the association of aniridia and patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.	Preferred (foundation metadata concept)
A syndrome of abnormal cortical development with characteristics of severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case.	Preferred (foundation metadata concept)
A syndrome of emergence or increment of neuropsychiatric symptoms, such as confusion and behavioral disturbances, in the late afternoon, early evening or at night.	Preferred (foundation metadata concept)
A syndrome of intellectual disability/multiple congenital malformations that is caused by the total or partial duplication of the short arm of chromosome 10. Around 50 cases have been described in the literature. The anomalies are present at birth. Children are usually dolichocephalic with a high and prominent forehead, contrasting with a small face. Osteoarticular anomalies are frequent, including ligament hyperlaxity, flexion deformations of limbs, and club feet. Cardiac, renal, ocular and bone malformations have been reported. The majority of cases are a result of the malsegregation of a familial balanced translocation. The most frequent break point is located at the level of p11 band, but it can be more distal and result in partial trisomy.	Preferred (foundation metadata concept)
A syndrome of multiple congenital anomalies with characteristics of encephalopathy that predominantly occurs in the first year of life and presents as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991.	Preferred (foundation metadata concept)
A syndrome of multiple congenital anomalies with characteristics of radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula) and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis and Duane anomaly).The phenotype overlaps with related disorders including Okihiro syndrome and Holt-Oram syndrome. Transmission is autosomal dominant.	Preferred (foundation metadata concept)
A syndrome of multiple congenital malformations with an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension) and obstructive renal disease (ectopic ureteric insertion, obstruction, hydronephrosis). Gastrointestinal tract and cardiac involvement have also been reported. An overlap with Kabuki syndrome is debated.	Preferred (foundation metadata concept)
A syndrome with characteristics of facial dysmorphism, a progeroid appearance, large and late closing fontanelle, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.	Preferred (foundation metadata concept)
A syndrome with characteristics of immune deficiency and neurological disorders in females and neonatal death in males. The syndrome has been described in only one family with nine affected individuals (five males and four females) spanning two generations. Symptomatic females present slowly progressive proximal muscle weakness, leg hyperreflexia, pes cavus, increased muscle tone in the legs, poor bladder function, static reduced night vision and frequent sinopulmonary infections associated with IgG2 deficiency. Males present with low birth weight and severe hypotonia that leads to death in the neonatal period. The gene locus has been mapped to Xq26-qter.	Preferred (foundation metadata concept)
A syndrome with the association of demyelinating leukodystrophy and progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia. It has been diagnosed in four unrelated patients. These symptoms suggest the association of a myelination defect (of the central and peripheral nervous systems) with an endocrinal deficiency of the pituitary gland.	Preferred (foundation metadata concept)
A syndromic craniosynostosis with a wide range of clinical findings even within a single family. Most have coronal synostosis however synostosis of other sutures, all sutures, macrocephaly without craniosynostosis, or a normal skull may be observed. Bilateral coronal synostosis usually results in brachycephaly with temporal bossing and facial symmetry. Craniofacial findings include widely spaced eyes, ptosis or proptosis, strabismus, and high arched palate or cleft lip/palate. Over 70% of patients have some form of hearing loss. Additional extracranial manifestations include otitis media, brachydactyly, broad toes, broad thumbs, clinodactyly, developmental delay and intellectual disability. Caused by mutation in the FGFR3 gene (4p16.3), encoding fibroblast growth factor receptor 3, which is required for normal skeleton development. Inheritance is autosomal dominant.	Preferred (foundation metadata concept)
A syndromic developmental defect of the eye with characteristics of dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs. There is evidence the syndrome is caused by homozygous mutation in the ASPH gene on chromosome 8q12.	Preferred (foundation metadata concept)
A syndromic disorder with the association between Dandy-Walker malformation and postaxial polydactyly as a major feature. The Dandy-Walker malformation has a variable expression and characteristics of a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.	Preferred (foundation metadata concept)
A syndromic genetic deafness with characteristics of erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated.	Preferred (foundation metadata concept)
A syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.	Preferred (foundation metadata concept)
A synostosis syndrome reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965.	Preferred (foundation metadata concept)
A synthetic graft of skin is when the graft consists of synthetic materials, for example, silicone graft.	Preferred (foundation metadata concept)

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Reference Sets

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Id	Description	Lang	Type	Status	Case?	Module
900000000001115012	United States of America English language reference set	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)
900000000001116013	US English	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)
900000000001117016	United States of America English language reference set (foundation metadata concept)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)