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 characteristic selective serotonin reuptake inhibitor (SSRI) discontinuation syndrome is usually mild, commences within 1 week of stopping treatment, resolves spontaneously within 3 weeks, and consists of diverse physical and psychological symptoms, the commonest being dizziness, nausea, lethargy and headache. SSRI reinstatement leads to resolution within 48 hours.	Preferred (foundation metadata concept)
A chart evaluation performed by a physician	Preferred (foundation metadata concept)
A chart related administrative procedure done by the medical records department	Preferred (foundation metadata concept)
A chart related administrative procedure that involves abstracting information from the chart	Preferred (foundation metadata concept)
A chart-related administrative procedure that checks a chart for completion and accuracy and conformance to chart policy.	Preferred (foundation metadata concept)
A chart-related administrative procedure that involves opening the chart	Preferred (foundation metadata concept)
A chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-esophageal and urogenital anomalies.	Preferred (foundation metadata concept)
A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and friendly/amiable behavior. Abnormal hair pigmentation and texture is also frequent. Short stature, pectus excavatum, spine anomalies, dislocation of the hip, long slender fingers and slender lower limbs, and positional deformities of the hands/feet have also been reported. In all patients, global psychomotor developmental delay is noted from an early age. The recurrent 17q21.31 deletion encompasses at least six genes: C17orf69, CRHR1, IMP5, MAPT, STH and KIAA1267.	Preferred (foundation metadata concept)
A chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 with clinical characteristics of a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.	Preferred (foundation metadata concept)
A chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 resulting in characteristics of facial dysmorphism, pre and postnatal growth retardation, cardiac and genital anomalies and developmental delay. Prevalence is unknown but around 40 cases have been described in the literature so far. Genital abnormalities have been mostly reported in males, psychomotor retardation (generally described as mild) was present in all reported cases. Distal monosomy 10q results from a subterminal 10q deletion with breakpoints in the 10q25 or 10q26 band leading to partial monosomy for the genes located in this area. Most of the reported cases involved de novo terminal deletions resulting from abnormal non-allelic homolog recombination during meiosis.	Preferred (foundation metadata concept)
A chromosomal anomaly of chromosome 13 with characteristics of a widely variable phenotype ranging from mild to severe. Principle manifestations include intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. up-slanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies and genital abnormalities.	Preferred (foundation metadata concept)
A chromosomal anomaly that causes a congenital malformation disorder with common features that includes cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. The disease has a variable clinical phenotype that ranges from mild to severe. The broad spectrum of clinical phenotypes that the syndrome encompasses was previously divided into distinct syndromes (for example DiGeorge syndrome, velocardiofacial syndrome, cardiofacial syndrome) but are now known to be identical and are referred to as 22q11.2 deletion sydrome. In most cases, the syndrome is due to a 3 million base pair (Mb) deletion on the chromosomal region 22q11.2 that is flanked by low copy number repeats. The deletion is due to a non-allelic meiotic recombination during spermatogenesis or oogenesis. The variable expression of the 22q11.2 phenotype is thought to be due to genetic modifiers on either the other 22q11.2 allele or on other chromosomes. The deletion arises de novo in 90% of the cases.	Preferred (foundation metadata concept)
A chromosomal anomaly with characteristics of developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity. The proximal 16p11.2 microdeletion syndrome most commonly refers to a distinct deletion of approximately 593 kb at chromosomal coordinates 29.5-30.1 Mb comprising 24 genes. The relationship between genotype and clinical phenotype remains elusive.	Preferred (foundation metadata concept)
A chromosomal anomaly with characteristics of severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.	Preferred (foundation metadata concept)
A chromosomal condition occurring when a piece of the long (q) arm of chromosome 18 is missing near the center of the chromosome. The disease has a wide range of characteristics including developmental delay, intellectual disability, delayed expressive language skills, recurrent seizures and hypotonia. Macrocephaly may also be associated along with characteristic facial features including prominent forehead, ptosis, downslanting palpebral fissures, puffy periorbital tissue, and full cheeks. Most cases of proximal 18q deletion syndrome are the result of a new (de novo) deletion and are not inherited from a parent.	Preferred (foundation metadata concept)
A chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior. Facial dysmorphism is absent or subtle and major malformations are rare. The syndrome is usually sporadic and not inherited and results from an abnormal extra chromosome in each cell containing mirror-image segments of genetic material. The isodicentric chromosome is made up of two extra copies of a segment of genetic material from chromosome 15, which is attached end-to-end. Typically this copied genetic material includes a region of the chromosome called 15q11-q13.	Preferred (foundation metadata concept)
A chromosome microdeletion syndrome with characteristics of neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.	Preferred (foundation metadata concept)
A chronic autoinflammatory disease in which innate immune response is activated abnormally causing fever and inflammation-related damage to tissues and organs. The episodes can last for several days and occur weeks to months apart, manifestations include erythematous plaques on the skin, abdominal pain, dry eyes, dry mouth, mouth sores, chest pain and gland enlargement. This condition likely results from a combination of genetic and environmental factors. Variations in the NOD2 gene increase risk and it is suspected that environmental factors such as infections may also play a role in triggering the disease in people with genetic variants that increase their risk. The syndrome appears to be a complex disease without a single genetic cause.	Preferred (foundation metadata concept)
A chronic multisystem granulomatous inflammatory disease with manifestation of single or multiple soft plaques on various organs of the body. Can occur in all ages, with a mean age at diagnosis of 50 years old and a female predominance. Cases in children are rare. It is most common in immunodeficient patients with a history of diabetes, transplantation, lymphoma, steroid therapy or alcoholism. Seems to be due to an impaired response to bacterial infection.	Preferred (foundation metadata concept)
A chronic neurodegenerative disorder with features of spastic paraparesis (beginning at about 10 years of age) and hearing deficits. It has been described in affecting at least six male members spanning three generations of a large family. Some relatives presented with tremor, cataracts, sensory deficits, short stature, hypogonadism, elevated cerebrospinal fluid protein, and/or absent or prolonged somatosensory evoked potentials.	Preferred (foundation metadata concept)
A chronic neuropathic pain syndrome of the abdominal wall caused by entrapment of anterior cutaneous branches of 7 to 12th intercostal nerves along the lateral border of the anterior rectus abdominis fascia.	Preferred (foundation metadata concept)
A chronic type of intestinal failure with characteristics of a nonfunctioning small bowel that may be reversible or irreversible. The body is unable to maintain energy and nutritional needs through absorption of food or nutrients via the intestinal tract despite being metabolically stable. This necessitates long-term parenteral feeding.	Preferred (foundation metadata concept)
A classical radical neck dissection (RND) involves excision of fibrofatty tissue and removal of lymph nodes from the mandible superiorly to the clavicle inferiorly (level I to level V), and in the unmodified procedure encompasses the sternocleidomastoid muscle, spinal accessory nerve and the internal jugular vein and may include additional structures such as the submandibular gland.	Preferred (foundation metadata concept)
A client assessment of their congruence to agreed upon nutrition related self monitoring.	Preferred (foundation metadata concept)
A client assessment of their congruence with agreed upon nutrition related self management.	Preferred (foundation metadata concept)
A clinical disease characterized by elevated serum IgG4 concentration and tumefaction or tissue infiltration by IgG4-positive plasma cells.	Preferred (foundation metadata concept)
A clinical entity that can present as variable anomalies of the caudal pole. It has been described in four siblings and their father's half-sister. The first sibling had aberrant umbilical cord vasculature with a single umbilical artery near the placental insertion. Two of the siblings showed full sirenomelia, one with a complex congenital heart defect. The fourth case had an imperforate anus and an excessively long umbilical cord. The half-sister had an imperforate anus, rectovaginal fistula and genitourinary anomalies. The syndrome appears to be expressed as a dominant trait with reduced penetrance and variable expressivity.	Preferred (foundation metadata concept)
A clinically oriented interview of a patient or someone familiar with the patient	Preferred (foundation metadata concept)
A close up view of the teeth from the front of the patient with no set magnification or distance from the patient.	Preferred (foundation metadata concept)
A closed ipsilateral double vertical fracture of the superior pubic ramus and the ischiopubic ramus with fracture or dislocation of the sacroiliac joint.	Preferred (foundation metadata concept)
A closure done by stapling	Preferred (foundation metadata concept)
A cognitive behavior therapy approach involving a team of professionals all of the same discipline.	Preferred (foundation metadata concept)
A collaborative nutrition counseling activity between the client and the practitioner in which the client decides from all potential activity recommendations what changes he or she will expend effort to implement.	Preferred (foundation metadata concept)
A collection of extravascular blood in the intracranial subdural space	Preferred (foundation metadata concept)
A colorless gas with a characteristic foul odor, used as a fuel and shipped as a liquefied compressed gas	Preferred (foundation metadata concept)
A common taste disorder where there is a lingering, often unpleasant taste despite the absence of any stimulus to initiate the distorted taste.	Preferred (foundation metadata concept)
A complex composed of aspartate aminotransferase and immunoglobulin.	Preferred (foundation metadata concept)
A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia. The phenotype has been mapped to a locus on chromosome 1p31.1-p21.1.	Preferred (foundation metadata concept)
A complex form of hereditary spastic paraplegia with characteristics of a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.	Preferred (foundation metadata concept)
A complex form of hereditary spastic paraplegia with characteristics of delay in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982.	Preferred (foundation metadata concept)
A complex form of hereditary spastic paraplegia with characteristics of spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992.	Preferred (foundation metadata concept)
A complex form of hereditary spastic paraplegia, with onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy. The SPG36 phenotype has been mapped to a locus on chromosome 12q23-q24.	Preferred (foundation metadata concept)
A complex form of young-onset Parkinson disease that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms. To date, only six families have been reported. Mutations in the genes ATP13A2 (1p36), PLA2G6 (22q13.1), FBXO7 (22q12.3), DNAJC6 (1p31.3), SPG11 (15q13-q15), SPG15 (14q24.1) and SYNJ1 (21q22.2) are associated with this disease. Usually occurs in an autosomal recessive manner however, sporadic cases have also been reported and the majority of these cases are born from consanguineous parents.	Preferred (foundation metadata concept)
A complex hereditary spastic paraplegia with characteristics of delayed motor development, spasticity and inability to walk, later progressing to quadriplegia, motor aphasia, bowel and bladder dysfunction. Patients also present with vision problems and mild intellectual disability. The disease affects only males.	Preferred (foundation metadata concept)
A complex hereditary spastic paraplegia with characteristics of mild to severe lower limbs spasticity, hyperreflexia, extensor plantar responses, pes cavus and significant wasting and weakness of the small hand muscles. Impaired vibration sensation, temporal lobe epilepsy and cognitive dysfunction were also reported.	Preferred (foundation metadata concept)
A complex hereditary spastic paraplegia with characteristics of progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense.	Preferred (foundation metadata concept)
A complex mixture consisting of allergenic proteins derived from natural sources used for allergy diagnosis by skin or provocation testing.	Preferred (foundation metadata concept)
A complex mixture consisting of allergenic proteins derived from natural sources used for allergy treatment by subcutaneous or oral/sublingual route.	Preferred (foundation metadata concept)
A complex mixture consisting of allergenic proteins derived from natural sources. May be used for diagnosis or therapy. Extracts used for diagnosis have the same active ingredients as those used for therapy but may differ by concentration, diluent or other additives.	Preferred (foundation metadata concept)
A complex type of hereditary spastic paraplegia with onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (oromandibular dyskinesia, rigidity) and cerebellar (dysdiadochokinesia and incoordination) signs. Subtle abnormalities (for example developmental delay) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging.	Preferred (foundation metadata concept)
A component has been made inactive because it duplicates another component of the same type. E.g. A description that duplicates another description or a concept that duplicates another concept.	Preferred (foundation metadata concept)
A component that contains a technical error.	Preferred (foundation metadata concept)
A component that fails to comply with the current editorial guidance.	Preferred (foundation metadata concept)
A component that is no longer current, useful, appropriate or acceptable.	Preferred (foundation metadata concept)
A composite graft is a small graft containing skin and underlying cartilage or other tissue.	Preferred (foundation metadata concept)
A concentric contraction against resistance in which the angular change of joint motion is at the same rate and the counterforce is less than the patient force.	Preferred (foundation metadata concept)
A concept that represents the top (or root) of a SNOMED CT association hierarchy.	Preferred (foundation metadata concept)
A condition characterized by loss of skeletal muscle mass, primarily in the elderly but can be associated with other conditions that are not exclusively seen in older people.	Preferred (foundation metadata concept)
A condition following an arterial switch operation to correct transposition of the great arteries, in which the old aortic root becomes the new pulmonary root and where outflow of blood from the right ventricle of the heart is obstructed at the level of the pulmonic valve.	Preferred (foundation metadata concept)
A condition following an arterial switch operation to correct transposition of the great arteries, in which the old aortic root becomes the new pulmonary root and where the new pulmonary valve does not prevent backflow to the right ventricle.	Preferred (foundation metadata concept)
A condition following an arterial switch operation to correct transposition of the great arteries, in which the old pulmonary root becomes the new aortic root and where the new aortic valve does not prevent backflow to the left ventricle.	Preferred (foundation metadata concept)
A condition following an arterial switch operation to correct transposition of the great arteries, in which the old pulmonary root becomes the new aortic root and where the new aortic valve is narrowed.	Preferred (foundation metadata concept)
A condition in which a child is chronically irritable and experiences frequent, severe temper outbursts that seem grossly out of proportion to the situation.	Preferred (foundation metadata concept)
A condition in which the placenta is located over or near the internal os of the cervix, increasing the risk of hemorrhage.	Preferred (foundation metadata concept)
A condition occurring in women who have had a bilateral salpingo-oophorectomy, with or without hysterectomy, that leaves behind ovarian tissue. This residual ovarian tissue then results in pelvic symptoms such as pain or mass.	Preferred (foundation metadata concept)
A condition of optimal distribution of body mass in relation to gravity.	Preferred (foundation metadata concept)
A condition that confers a high risk of progression to actual heart failure but lacks actual structural or functional disorder of the heart.	Preferred (foundation metadata concept)
A condition with multiple abnormalities including mild to severe intellectual disability, impaired growth from birth leading to short stature, and microcephaly. Affected individuals may also have distinctive facial features (including a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks), sensorineural hearing loss, and heart malformations	Preferred (foundation metadata concept)
A congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral cryptophthalmia have been described. Transmission is autosomal dominant.	Preferred (foundation metadata concept)
A congenital abnormality of the pituitary that is responsible for pituitary deficiency with usual manifestation of a triad of very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary and hypoplasia or aplasia of the anterior pituitary. In the majority of cases no genetic cause is found, however, the presence of familial forms and the association with microphallus and congenital abnormalities, particularly of the eyes, suggest an antenatal origin.	Preferred (foundation metadata concept)
A congenital anomaly of a vertebra in which it develops characteristic(s) of the adjoining structure or region.	Preferred (foundation metadata concept)
A congenital anomaly of the kidney and urinary tract in which one or both kidneys are large, distended by multiple cysts, and non-functional. Global prevalence is not known, but the unilateral form is the most frequent. The disorder frequently presents antenatally at routine ultrasound scan. Bilateral disease is considered a lethal entity and most pregnancies are terminated. The disorder results from disrupted nephrogenesis but the exact pathogenic mechanism is still unknown. Mutations in the HNF1B gene (17q12) are strongly associated with the development of this disease. Most cases are sporadic.	Preferred (foundation metadata concept)
A congenital contiguous gene deletion syndrome, which is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin level or mild anemia, associated with developmental abnormalities. Caused by large deletions on chromosome band 16p13.3 which remove the alpha-globin genes (HBA1 and HBA2), and many other flanking genes. The gene(s) responsible for intellectual deficiency and other developmental abnormalities has not been clearly identified. All cases are due to de novo deletions or segregation for parental translocations inherited in an unbalanced manner. The prognosis is highly variable, depending on the degree of intellectual deficiency.	Preferred (foundation metadata concept)
A congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.	Preferred (foundation metadata concept)
A congenital developmental abnormality of the ileum where there is a gap in the intestine due to a mesenteric defect resulting in obstruction of the ileum; the proximal dilated section of intestine and the distal narrower segment are both blind ends; the intestine may be reduced in length.	Preferred (foundation metadata concept)
A congenital developmental abnormality of the ileum where there is a gap in the intestine resulting in obstruction of the ileum; the proximal dilated section of intestine forms a blind end and is connected to the distal smaller segment by a fibrous cord which runs along the edge of the mesentery; the mesentery is intact and the intestine develops to a normal length.	Preferred (foundation metadata concept)
A congenital developmental abnormality of the ileum where there is a septum occluding the lumen resulting in obstruction of the ileum with proximal intestinal dilation in continuity with a collapsed distal intestine; the intestine develops to a normal length.	Preferred (foundation metadata concept)
A congenital developmental abnormality of the jejunum where there are multiple gaps in the intestine due to a mesenteric defect with elements of type I, type II and type III atresia creating a morphological appearance of a string of sausages; the intestine is always reduced in length.	Preferred (foundation metadata concept)
A congenital developmental abnormality of the jejunum where there is a gap in the intestine due to a mesenteric defect associated with abnormal mesenteric arterial supply and a distal intestinal segment spiral deformity, frequently described as having an apple peel appearance; the intestine is reduced in length.	Preferred (foundation metadata concept)
A congenital developmental abnormality of the jejunum where there is a gap in the intestine due to a mesenteric defect resulting in obstruction of the jejunum; the proximal dilated section of intestine and the distal narrower segment are both blind ends; the intestine may be reduced in length.	Preferred (foundation metadata concept)
A congenital developmental abnormality of the jejunum where there is a gap in the intestine resulting in obstruction of the jejunum; the proximal dilated section of intestine forms a blind end and is connected to the distal smaller segment by a fibrous cord which runs along the edge of the mesentery; the mesentery is intact and the intestine develops to a normal length.	Preferred (foundation metadata concept)
A congenital developmental abnormality of the jejunum where there is a septum occluding the lumen resulting in obstruction of the jejunum with proximal intestinal dilation in continuity with a collapsed distal intestine; the intestine develops to a normal length.	Preferred (foundation metadata concept)
A congenital differentiation of the fifth lumbar vertebra (L5) such that it takes on characteristics of a sacral vertebra. Though the sacralization is usually incomplete and limited to one side, it can be partial or complete on one or both sides of the sacrum	Preferred (foundation metadata concept)
A congenital disorder of craniofacial development with characteristics of bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. The syndrome is caused by mutations in the TCOF1 gene (5q32) encoding the nucleolar phosphoprotein Treacle or in the POLR1C (6p21.1) or POLR1D (13q12.2) genes, coding for RNA polymerase I and III subunits. Transmission is autosomal dominant with 90% penetrance and variable expressivity, even among affected patients within the same family. Mutations in POLR1C gene are inherited in autosomal recessive manner.	Preferred (foundation metadata concept)
A congenital disorder of glycosylation with characteristics of macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.	Preferred (foundation metadata concept)
A congenital disorder of glycosylation with characteristics of severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum). Caused by hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.	Preferred (foundation metadata concept)
A congenital enteropathy presenting with early-onset severe intractable diarrhea sometimes causing irreversible intestinal failure. Infants develop a watery diarrhea within the first days after birth and the diarrhea persists in spite of bowel rest and parenteral nutrition. Some infants are reported to have associated choanal, rectal or esophageal atresia. Autosomal recessive transmission but the causative gene has not been yet identified.	Preferred (foundation metadata concept)
A congenital heart malformation characterized by an atrial septal defect, clefts of mitral and occasionally tricuspid valves, two separate atrioventricular valve annuli and an intact ventricular septum. The typical symptoms are impaired exercise capacity and exertional dyspnea. The age of onset is variable, but clinical features may not appear until later in life. In contrast to the complete form, patients with partial atrioventricular canal have two separate AV valves, (resulting from fusion of the superior and inferior bridging leaflets), and no large intraventricular communication.	Preferred (foundation metadata concept)
A congenital hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 with characteristics of Dejerine-Sottas syndrome-like phenotype (including hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical Charcot-Marie-Tooth phenotype, for example distal muscle weakness and atrophy, sensory loss, and foot deformity.	Preferred (foundation metadata concept)
A congenital intermediate sized melanocytic nevus has a diameter between 1.5 and 20 cm	Preferred (foundation metadata concept)
A congenital malformation characterized by an abnormal posterior sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus. Five types of laryngo-tracheo-esophageal cleft have been described based on the downward extension of the cleft. The disorder is often associated with other congenital abnormalities. Laryngeal clefts result from failure of fusion of the posterior cricoid lamina and abnormal development of the tracheo-esophageal septum. The disorder appears to be mostly sporadic although some familial cases with suspected autosomal dominant transmission have been reported.	Preferred (foundation metadata concept)
A congenital malformation characterized by shortening of the middle phalanx of the fifth finger. Inherited as an autosomal dominant trait.	Preferred (foundation metadata concept)
A congenital malformation of the digits characterized by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait.	Preferred (foundation metadata concept)
A congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs. Fewer than 30 cases have been described, the majority of cases occurred in related families. The syndrome affects both the upper and lower limbs but, in general, the latter are less severely affected. Associated malformations (renal hypoplasia and vertebral and hemi-vertebral anomalies) have occasionally been reported. Mild facial dysmorphism has been described in isolated cases. The disease is transmitted as an autosomal recessive trait. Homozygous or compound heterozygous mutations of the LRP4 gene (11p12-p11.2) have been identified.	Preferred (foundation metadata concept)
A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.	Preferred (foundation metadata concept)
A congenital malformation with apparent shortness (or absence) of the middle phalanges of all digits and occasional fusion with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. Tendency to be of short stature in adulthood. Inherited as an autosomal dominant trait.	Preferred (foundation metadata concept)
A congenital malformation with characteristics of shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and sometimes of the little finger. Only a few cases have been reported in the literature. Affected individuals have a triangular shaped middle phalanx of the index fingers and in severely affected cases the index finger is curved radially. Can be caused by mutations in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11.	Preferred (foundation metadata concept)
A congenital melanocytic nevus with a projected or final adult maximal diameter of less than 15 mm.	Preferred (foundation metadata concept)
A congenital non-syndromic limb malformation with the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hyperphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies.	Preferred (foundation metadata concept)
A congenital syndromic form of split-hand/foot malformation with features of microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP.	Preferred (foundation metadata concept)
A congenital vascular bone syndrome with the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb. The affected limb may show overgrowth in comparison with the contralateral limb and the extent of this limb length discrepancy may vary from a slight difference to 10cm or more. The growth effect may be manifested in only one bone (mainly the femur or tibia) or, in some cases, affect the whole limb. The existence of arteriovenous fistulas around or inside the bone is now being widely accepted as the main cause of bone overgrowth. Although the syndrome generally appears to be sporadic, autosomal dominant inheritance has been noted in a few families.	Preferred (foundation metadata concept)

Start Previous Page 137 of 12832 Next End

Reference Sets

Reference set descriptor

Back to Start

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)