900000000000490003: Description inactivation indicator attribute value reference set (foundation metadata concept)

concepto de SNOMED CT\componente del modelo de SNOMED CT\concepto de metadato fundacional (metadato fundacional)\conjunto de referencias\conjunto de referencias de tipo atributo-valor\conjunto de referencias atributo-valor de motivo de inactivación de descripciones

Status: current, estado de definición de concepto necesario pero no suficiente (metadato del núcleo). Date: 31-Jan 2002. Module: módulo identificador para componentes del modelo de SNOMED CT (metadato del núcleo)

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
conjunto de referencias atributo-valor de motivo de inactivación de descripciones	es un[a]	conjunto de referencias de tipo atributo-valor	true	relación inferida	restricción existencial (metadato del núcleo)

Members	valueId
A rare variant of frontonasal dysplasia characterised by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nail malformations as well as intellectual disability.	componente erróneo (metadato fundacional)
A rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nail malformations as well as intellectual disability.	componente erróneo (metadato fundacional)
A rare variant of frontonasal dysplasia with characteristics of distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nail) malformations, as well as intellectual disability.	componente obsoleto (metadato fundacional)
A rare variant of lichen planopilaris with characteristic of symmetrical progressive band-like anterior hair loss of the scalp. Prevalence is unknown. It most commonly affects postmenopausal women, although it has also been reported in men and premenopausal women. Progressive recession of the frontal and temporal hairline is observed. Approximately half of all cases also have eyebrow loss; less often there is hair loss in other parts of the body. It is only very rarely associated with classic lichen planus lesions elsewhere. It is suggested that the disease could have a hormonal origin, but to date the precise cause remains unknown.	componente obsoleto (metadato fundacional)
A rare variant of multiple sclerosis with characteristics of a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients.	componente obsoleto (metadato fundacional)
A rare vascular anomaly or angioma with characteristics of multifocal malformed lymphatic channels lined by clusters or sheets of spindled lymphatic endothelial cells with a predilection for the thoracic cavity, but also involving extra-thoracic locations, especially bones and spleen. Typical clinical signs and symptoms are pericardial and pleural effusions, cough, dyspnea, bleeding and fractures secondary to bone involvement. Prognosis is generally poor due to the progressive nature of the condition.	componente obsoleto (metadato fundacional)
A rare vascular anomaly or angioma with characteristics of multifocal malformed lymphatic channels lined by clusters or sheets of spindled lymphatic endothelial cells with a predilection for the thoracic cavity, but also involving extra-thoracic locations, especially bones and spleen. Typical clinical signs and symptoms are pericardial and pleural effusions, cough, dyspnoea, bleeding and fractures secondary to bone involvement. Prognosis is generally poor due to the progressive nature of the condition.	componente obsoleto (metadato fundacional)
A rare vascular anomaly with characteristics of absence of the hepatic segment of the inferior vena cava and presence of an enlarged azygos vein (or in rare cases hemiazygos vein, if there is a left-sided inferior vena cava) draining the venous blood from the caudal segments. The post-hepatic segment of the inferior vena cava is present, draining only the hepatic veins into the right atrium. Most patients remain asymptomatic, if the anomaly is isolated. Association with congenital heart disease and asplenia or polysplenia syndromes has been reported.	componente obsoleto (metadato fundacional)
A rare vascular anomaly with the association of capillary and venous malformations with hypotrophy or shortening of an affected limb due to alterations in bones, muscles, or subcutaneous tissues. In most cases, at least one of the findings is noted shortly after birth, while the other components become evident later in infancy.	componente obsoleto (metadato fundacional)
A rare vascular liver disease characterised by widespread or focal cystic dilatation of sinusoidal blood-filled spaces of the liver without any known cause. Lesions can vary in diameter between few millimetres and several centimetres. The condition may remain asymptomatic or manifest with complications including rupture and intraperitoneal haemorrhage, hepatomegaly, portal hypertension, cholestasis and liver failure.	componente obsoleto (metadato fundacional)
A rare vascular liver disease characterized by widespread or focal cystic dilatation of sinusoidal blood-filled spaces of the liver without any known cause. Lesions can vary in diameter between few millimeters and several centimeters. The condition may remain asymptomatic or manifest with complications including rupture and intraperitoneal hemorrhage, hepatomegaly, portal hypertension, cholestasis and liver failure.	componente obsoleto (metadato fundacional)
A rare very aggressive neuroendocrine neoplasm with the presence of nodular mass(es) arising from the neck, fundus or body of the gallbladder or by diffuse thickening of the gallbladder wall. Patients may be asymptomatic (diagnosed incidentally after surgical resection of the gallbladder) or may present epigastric pain, abdominal mass and/or non-specific symptoms, such as nausea, jaundice, flushing, cough, wheezing, ascites. Paraneoplastic syndromes such as Cushing syndrome, acanthosis nigricans, bullous pemphigoid, dermatomyositis and the Leser-Trelat sign may be associated.	componente obsoleto (metadato fundacional)
A rare viral disease characterised by invasive and/or disseminated adenovirus infection in immunocompromised patients, either acquired de novo or arising from reactivation of persistent latent infection. The clinical picture comprises a wide range of manifestations including pneumonia, colitis, hepatitis, haemorrhagic cystitis, tubulointerstitial nephritis, encephalitis, and disseminated disease among others. Severity varies with age and immune status and life-threatening courses may occur.	componente obsoleto (metadato fundacional)
A rare viral disease characterized by invasive and/or disseminated adenovirus infection in immunocompromised patients, either acquired de novo or arising from reactivation of persistent latent infection. The clinical picture comprises a wide range of manifestations including pneumonia, colitis, hepatitis, hemorrhagic cystitis, tubulointerstitial nephritis, encephalitis, and disseminated disease among others. Severity varies with age and immune status and life-threatening courses may occur.	componente obsoleto (metadato fundacional)
A rare viral infection disorder caused by the Hendra virus with characteristics of the onset of flu-like symptoms (fever, myalgia, headaches, lethargy) approximately one week after having been in close contact with bodily fluids of infected horses. Neurological manifestations (for example vertigo, confusion, ataxia) and progressive respiratory failure, leading to death, have also been reported.	componente obsoleto (metadato fundacional)
A rare vulvovaginal neoplasm, a highly malignant soft tissue sarcoma composed of cells with round to oval or spindle-shaped nuclei and eosinophilic cytoplasm that may show differentiation towards striated muscle cells. It usually affects children and presents with a vulvar or vaginal mass that may be polypoid or grape-like (embryonal subtype) and associated with bleeding and ulceration.	componente obsoleto (metadato fundacional)
A rare, congenital, non-syndromic, developmental defect during embryogenesis with characteristics of positioning of the heart in the right hemithorax, with the base and apex of the heart pointing caudally and to the right, due to abnormalities of embryologic origin that are intrinsic to the heart itself. Situs inversus or situs solitus may be associated, with extracardiac visceral transposition anomalies usually present in the former case and additional cardiac defects (e.g. septal defects, transposition of the great arteries, double-outlet right ventricles, anomalous pulmonary venous return, tetralogy of Fallot) frequently observed in both cases.	componente obsoleto (metadato fundacional)
A rare, genetic macular dystrophy disorder characterised by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, haematuria and recurrent miscarriages. Caused by mutation in the prominin-1 gene (PROM1).	componente erróneo (metadato fundacional)
A rare, genetic macular dystrophy disorder characterised by slowly progressive bull's eye maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, haematuria and recurrent miscarriages. Caused by mutation in the prominin-1 gene (PROM1).	componente obsoleto (metadato fundacional)
A rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages. Caused by mutation in the prominin-1 gene (PROM1).	componente erróneo (metadato fundacional)
A rare, genetic macular dystrophy disorder characterized by slowly progressive bull's eye maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages. Caused by mutation in the prominin-1 gene (PROM1).	componente obsoleto (metadato fundacional)
A rare, genetic, primary immunodeficiency disorder characterised by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked XIAP gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven haemophagocytic lymphohistiocytosis, hypogammaglobulinaemia, recurrent splenomegaly, hepatitis, colitis, and intestinal bowel disease with features of Crohn's disease. Additional manifestations include variable auto-inflammatory symptoms such as uveitis, arthritis, skin abscesses, erythema nodosum, and nephritis. Neurological involvement is rare and lymphoma is never observed.	componente obsoleto (metadato fundacional)
A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked XIAP gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven hemophagocytic lymphohistiocytosis, hypogammaglobulinemia, recurrent splenomegaly, hepatitis, colitis, and intestinal bowel disease with features of Crohn's disease. Additional manifestations include variable auto-inflammatory symptoms such as uveitis, arthritis, skin abscesses, erythema nodosum, and nephritis. Neurological involvement is rare and lymphoma is never observed.	componente obsoleto (metadato fundacional)
A rare, indolent B-cell non-Hodgkin lymphoma with characteristics of abnormal clonal proliferation of mature B-lymphocytes with involvement of the lymph nodes, sometimes the bone marrow, and rarely the blood. Clinically it presents with disseminated peripheral, abdominal and/or thoracic lymphadenopathy. Association with Hepatitis C virus and chronic inflammation has been reported.	componente obsoleto (metadato fundacional)
A rare, neural tube defect characterised by localised longitudinal division of the spinal cord with an interposed osseous, cartilaginous or fibrous septum and double dural sac, typically occurring at the thoracic or lumbar level. Local vertebral segmental defects, syringomyelia, meningocele and intraspinal tumours may be associated. Variable clinical presentation includes pain, scoliosis, asymmetry and weakness of the lower limbs, neurological deficits, sphincter dysfunction, and various cutaneous abnormalities overlying the spine, such as hypertrichosis, dimple, haemangioma, subcutaneous mass or pigmented naevus.	componente obsoleto (metadato fundacional)
A rare, neural tube defect characterized by localized longitudinal division of the spinal cord with an interposed osseous, cartilaginous or fibrous septum and double dural sac, typically occurring at the thoracic or lumbar level. Local vertebral segmental defects, syringomyelia, meningocele and intraspinal tumors may be associated. Variable clinical presentation includes pain, scoliosis, asymmetry and weakness of the lower limbs, neurological deficits, sphincter dysfunction, and various cutaneous abnormalities overlying the spine, such as hypertrichosis, dimple, hemangioma, subcutaneous mass or pigmented nevus.	componente obsoleto (metadato fundacional)
A rare, non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency with a highly variable phenotype. The disease typically presents with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation. Caused by homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12.	componente obsoleto (metadato fundacional)
A rare, very severe form of mevalonate kinase deficiency with characteristics of dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.	componente obsoleto (metadato fundacional)
A reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung.	componente obsoleto (metadato fundacional)
A recently described chromosomal abnormality with unclear clinical significance. Reported in fewer than 30 patients. The clinical phenotype is extremely variable and the most consistent features are mild or moderate intellectual deficit and microcephaly. These microduplications appear de novo or are inherited from mildly affected or completely normal parents.	componente obsoleto (metadato fundacional)
A recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. This syndrome is caused by interstitial duplications encompassing 16p13.11. The size of the rearrangements is variable. The underlying mechanism is non-allelic homologous recombination. The microduplications appear de novo or are inherited from mildly affected or completely normal parents, suggesting that the microduplication has incomplete penetrance and variable expressivity. As the duplication is present in phenotypically normal parents of patients, as well as in the general population, the clinical significance of the 16p13.11 microduplication is still unclear.	componente obsoleto (metadato fundacional)
A recently described syndrome associated with variable clinical features including behavioural abnormalities, developmental delay, congenital heart defects and skeletal anomalies. This syndrome is caused by interstitial duplications encompassing 16p13.11. The size of the rearrangements is variable. The underlying mechanism is non-allelic homologous recombination. The microduplications appear de novo or are inherited from mildly affected or completely normal parents, suggesting that the microduplication has incomplete penetrance and variable expressivity. As the duplication is present in phenotypically normal parents of patients, as well as in the general population, the clinical significance of the 16p13.11 microduplication is still unclear.	componente obsoleto (metadato fundacional)
A recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. This syndrome is caused by an interstitial deletion encompassing 16q24.3. They vary in size the common region of overlap is only 90 kb and comprises two candidates genes, ANKRD11 (Ankyrin Repeat Domain 11) and ZNF778 (Zinc Finger 778).	componente obsoleto (metadato fundacional)
A recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the second and fifth fingers and absence of middle phalanges of the second to fifth toes) and a syndactyly of the second and third toes. Metacarpals and metatarsals anomalies are common. This syndrome has been described in two families. It is caused by HOXD13 mutations in 2q31-q32. Inherited as an autosomal dominant trait.	componente obsoleto (metadato fundacional)
A recently described syndrome characterised by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioural problems. Facial features include down-slanting palpebral fissures, short nose, low-set ears, wide mouth and thin upper lip. Variable congenital anomalies can also be observed. This syndrome is caused by an interstitial deletion encompassing 16p13.11. The underlying mechanism is non-allelic homologous recombination. Microdeletions appear de novo or are inherited from mildly affected or completely normal parents in an autosomal dominant manner, suggesting that the microdeletion has incomplete penetrance and variable expressivity.	componente obsoleto (metadato fundacional)
A recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems. Facial features include down-slanting palpebral fissures, short nose, low-set ears, wide mouth and thin upper lip. Variable congenital anomalies can also be observed. This syndrome is caused by an interstitial deletion encompassing 16p13.11. The underlying mechanism is non-allelic homologous recombination. Microdeletions appear de novo or are inherited from mildly affected or completely normal parents in an autosomal dominant manner, suggesting that the microdeletion has incomplete penetrance and variable expressivity.	componente obsoleto (metadato fundacional)
A recently described syndrome with characteristics of Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism. Dysmorphic features include macrocephaly, hypertelorism, down-slanting palpebral fissures and microstomia. This syndrome is caused by an interstitial deletion encompassing 20p12.3. All these deletions except one occurred de novo and have a variable size with the smallest region of overlap including only one gene, BMP2, which is a good candidate gene for explaining the phenotype of Wolff-Parkinson-White syndrome.	componente obsoleto (metadato fundacional)
A recently described syndrome with characteristics of a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features. It has been described in fewer than 25 patients to date. Facial features include downslanting palpebral fissures, low-set ears and prominent nasal bridge. Most patients also have a high-arched palate or cleft palate. Some individuals have an ectodermal dysplasia-like phenotype, with thin, transparent skin and abnormalities of the hair and teeth. The size of the deletions is variable from 35 kb to 10.4 Mb. Haploinsufficiency of SATB2 is responsible for several of the clinical features.	componente obsoleto (metadato fundacional)
A recently described syndrome with characteristics of developmental delay and facial dysmorphism. Dysmorphic features include receding forehead, telecanthus, epicanthic fold, short and down-slanting palpebral fissures, ptosis, broad and high nasal bridge, retrognathia, flat philtrum, small mouth with high, narrow palate and everted lower lip. This syndrome is caused by an interstitial deletion 2p15p16.1 (present in mosaic in one patient). These de novo deletions have a variable size from 570 kb to 5.7 Mb and encompass several genes. Haploinsufficiency of these genes could contribute to the phenotype.	componente obsoleto (metadato fundacional)
A recently described syndrome with characteristics of developmental delay and facial dysmorphism. Facial features include flat facies, downslanting palpebral fissures, low-set and malformed ears. Orofacial clefting, heart defects, short stature, feeding difficulties and hypotonia can be observed. This syndrome is caused by an interstitial deletion encompassing 16p11.2-p12.2. These deletions arise de novo and are flanked by segmental duplications suggesting that the underlying mechanism is non-allelic homologous recombination.	componente obsoleto (metadato fundacional)
A recently described syndrome with characteristics of developmental delay, facial dysmorphism and hearing loss. It has been diagnosed in 4 patients. All of them presented with microcephaly, developmental delay, dysmorphic features and hearing loss, two of them had agenesis of the corpus callosum. Dysmorphic features include midface hypoplasia, hypertelorism, broad nasal root and posteriorly rotated ears.This syndrome is caused by an interstitial deletion encompassing 6q25.2-q25.3. These de novo deletions have a variable size with the smallest region of overlap of 3.52 Mb.	componente obsoleto (metadato fundacional)
A recently described syndrome with characteristics of developmental delay, hypotonia and facial dysmorphism. It has been clinically and molecularly described in 3 patients. All three children have similar dysmorphic features, including widely-spaced eyes, short nose with flat nasal bridge, long philtrum, prominent Cupid's bow, full lower lip and similar auricular anomalies. This syndrome is caused by an interstitial deletion encompassing 14q11.2.	componente obsoleto (metadato fundacional)
A recently described syndrome with characteristics of developmental delay, microcephaly, short stature, heart defects and limb abnormalities. The syndrome is caused by an interstitial deletion encompassing 17q23.1q23.2. The underlying mechanism is non-allelic homologous recombination. Parental FISH testing in five of the seven cases confirmed a de novo origin. The minimal deletion region of 2.2 Mb encompasses 2 transcription factors, TBX2 and TBX4, which are good candidate genes for explaining the phenotype.	componente obsoleto (metadato fundacional)
A recently described syndrome with characteristics of developmental delay, short stature and facial dysmorphism. Dysmorphic features include bi-temporal narrowing, smooth philtrum, pointed chin and dysmorphic ears. All reported patients had a cleft palate, whereas congenital heart defects or epilepsy are observed in patients with large deletions. Deletions are located within chromosome band 15q14, distal to the Prader-Willi/Angelman region. They have a variable size with the smallest deletion being 1.6 Mb in length.	componente obsoleto (metadato fundacional)
A recently described syndrome with characteristics of severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. The phenotype includes other features: postnatal growth retardation and microcephaly, hypotonia, epilepsy, stereotypic movements and feeding problems. Dysmorphic features associate prominent metopic suture, bilateral epicanthic folds, bulbous nasal tip, tented upper lip, everted lower lip and large ears. This syndrome is caused by an interstitial deletion encompassing 14q12. They have a variable size and include FOXG1 as the gene responsible for the intellectual deficit and severe microcephaly.	componente obsoleto (metadato fundacional)
A recently described syndrome with characteristics of short stature, hypogonadism, developmental delay and facial dysmorphism. Facial features include deep-set eyes, bulbous nasal tip and thin lips. Hypogonadism is due to primary gonadal failure. Patients also had some features that are probably caused by testosterone deficiency such as a high-pitched voice, sparse body hair and small hands and feet. Carrier females present with a short stature and early menopause. This syndrome is caused by an Xq27.3q28 interstitial duplication encompassing the FMR1 and AFF2 genes but not the MECP2 gene. Transmission is X-linked.	componente obsoleto (metadato fundacional)
A recently described type of encephalitis affecting young women with teratoma of ovary and associated with antibodies that react with neuronal cell surface auto-antigens.	componente obsoleto (metadato fundacional)
A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy and a cutaneous phenotype with manifestation of peculiar woolly hair and palmoplantar keratoderma. The disease was first described in families originating from the Greek island of Naxos. Woolly hair appears from birth, palmoplantar keratoderma develops during the first year of life and cardiomyopathy is clinically manifested by adolescence with 100% penetrance. Symptoms of right heart failure appear during the end stages of the disease.	componente obsoleto (metadato fundacional)
A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy and a cutaneous phenotype with manifestation of peculiar wooly hair and palmoplantar keratoderma. The disease was first described in families originating from the Greek island of Naxos. Woolly hair appears from birth, palmoplantar keratoderma develops during the first year of life and cardiomyopathy is clinically manifested by adolescence with 100% penetrance. Symptoms of right heart failure appear during the end stages of the disease.	componente obsoleto (metadato fundacional)
A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. It has been described in 23 patients. The clinical phenotype is extremely variable. The most common features include mild-to-moderate intellectual deficit and slightly dysmorphic facial features: microcephaly, long and narrow face, short philtrum, large posteriorly rotated ears and high nasal bridge. Autism and gait ataxia have been noted occasionally. The syndrome is caused by a recurrent deletion of the 3q subtelomeric region. Most of the deletions appear de novo but a few of them were inherited from mildly or non-affected parents.	componente obsoleto (metadato fundacional)
A relatively severe form of brachyolmia with characteristics of short-trunk short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease in the spine, large joints and interphalangeal joints becomes manifest in adulthood. The precise prevalence of this form of brachyolmia is not known. About 30 cases have been reported. Patients with Brachyolmia type 3 generally have a normal birth weight and length. Heterozygous mutations in the TRPV4 gene (12q24.11) are responsible. Autosomal dominant mode of inheritance.	componente obsoleto (metadato fundacional)
A renal tubulopathy characterised by renal tubular resistance to aldosterone, characterised by hyponatraemia, metabolic acidosis and hyperkalaemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants.	componente obsoleto (metadato fundacional)
A renal tubulopathy characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis and hyperkalemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants.	componente obsoleto (metadato fundacional)
A reparative construction that builds or rebuilds a structure that should normally be present	componente erróneo (metadato fundacional)
A respiratory disease caused by the deposition of haemosiderin-laden macrophages in lungs as a result of repeated alveolar haemorrhage secondary to another disease. Seen in dysimmunitary disorders for example Heiner syndrome, thrombotic disorders and cardiovascular disorders such as mitral stenosis. It manifests as a triad of haemoptysis, anaemia and diffuse parenchymal infiltrates on chest radiography.	componente obsoleto (metadato fundacional)
A respiratory disease caused by the deposition of hemosiderin-laden macrophages in lungs as a result of repeated alveolar hemorrhage secondary to another disease. Seen in dysimmunitary disorders for example Heiner syndrome, thrombotic disorders and cardiovascular disorders such as mitral stenosis. It manifests as a triad of hemoptysis, anemia and diffuse parenchymal infiltrates on chest radiography.	componente obsoleto (metadato fundacional)
A restrictive cardiopathy with manifestation of endocardial fibrosis. This disorder occurs almost exclusively in tropical and subtropical regions. The prevalence is unknown but the disorder is extremely rare in Europe. The fibrosis may affect the right ventricle (leading to adiastole with tricuspid insufficiency) or the left ventricle (causing acute mitral insufficiency, and early and severe pulmonary hypertension). The fibrosis can also be bilateral. The cause is unknown.	componente obsoleto (metadato fundacional)
A retinal dystrophy with characteristics of central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG). To date less than 20 cases have been described in the world literature. Caused by compound heterozygous or homozygous mutations in the BEST1 gene (11q12) which encodes the chloride ion channel bestrophin-1 (expressed in the retinal pigment epithelium (RPE)). Mutations in BEST1 reduce or abolish the activity of the channel. It has been proposed that ARB may represent the null phenotype of bestrophin-1 in humans. Transmission is autosomal recessive.	componente obsoleto (metadato fundacional)
A rhizo-mesomelic dysplasia with characteristics of rhizomelic short stature in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. The syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988.	componente obsoleto (metadato fundacional)
A route that begins in the regional surrounding a tumor.	error en descripción de gramática (metadato fundacional)
A route that begins in the regional surrounding a tumour.	error en descripción de gramática (metadato fundacional)
A route that begins inside of the trachea specifically, and does not include the potential administration directly to pulmonary locations.	Nonconformance to editorial policy component (foundation metadata concept)
A route that begins on the surface of mucosal tissue and has the propensity for systemic absorption via the submucosa.	concepto inactivo (metadato fundacional)
A route that begins within the dilatable spaces of the corpus cavernosa of the penis.	concepto inactivo (metadato fundacional)
A route where the substance is placed directly into the lumen of a catheter, often to remedy or prevent an occlusion within the lumen of the catheter. The substance is not meant to directly interact with the patient and may be removed after a specified period of time.	concepto inactivo (metadato fundacional)
A sclerosing disorder of the skeleton with increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates). Onset of the disease is typically in late childhood or adolescence. The main manifestations are confined to the skeleton, including fractures, scoliosis, hip osteoarthritis and osteomyelitis, particularly affecting the mandible in association with dental abscess or caries. The disease is caused by heterozygous mutations in the chloride channel 7 (ClCN7) gene (16p13).	componente erróneo (metadato fundacional)
A sclerosing disorder of the skeleton with increased bone density that classically displays the radiographic sign of sandwich vertebrae (dense bands of sclerosis parallel to the vertebral endplates). Onset of the disease is typically in late childhood or adolescence. The main manifestations are confined to the skeleton, including fractures, scoliosis, hip osteoarthritis and osteomyelitis, particularly affecting the mandible in association with dental abscess or caries. The disease is caused by heterozygous mutations in the chloride channel 7 (ClCN7) gene (16p13).	componente obsoleto (metadato fundacional)
A semi-dominant X-linked disease with intellectual deficiency and seizures that is more severe in male patients. Boys presenting with lissencephaly show an abnormally thick cortex with very few gyri (pachygyria) or even none (agyria). Clinical manifestations include swallowing and feeding difficulties, abnormal muscular tone, seizures and severe to profound psychomotor retardation. Female patients display a less severe malformation referred to as ''doublecortex'' or subcortical laminar heterotopia and present with clinical signs of variable severity ranging from mild epilepsy to refractory epileptic seizures and severe intellectual deficiency. The condition is caused by doublecortin (DCX, located at Xq22.3-q23) gene mutations.	componente erróneo (metadato fundacional)
A semi-dominant X-linked disease with intellectual deficiency and seizures that is more severe in male patients. Boys presenting with lissencephaly show an abnormally thick cortex with very few gyri (pachygyria) or even none (agyria). Clinical manifestations include swallowing and feeding difficulties, abnormal muscular tone, seizures and severe to profound psychomotor retardation. Female patients display a less severe malformation referred to as doublecortex or subcortical laminar heterotopia and present with clinical signs of variable severity ranging from mild epilepsy to refractory epileptic seizures and severe intellectual deficiency. The condition is caused by doublecortin (DCX, located at Xq22.3-q23) gene mutations.	componente obsoleto (metadato fundacional)
A series prostaglandin	Nonconformance to editorial policy component (foundation metadata concept)
A series prostaglandin	Nonconformance to editorial policy component (foundation metadata concept)
A series prostaglandin (product)	Nonconformance to editorial policy component (foundation metadata concept)
A series prostaglandin (substance)	Nonconformance to editorial policy component (foundation metadata concept)
A series prostaglandin allergy (disorder)	Nonconformance to editorial policy component (foundation metadata concept)
A series prostaglandin product	Nonconformance to editorial policy component (foundation metadata concept)
A severe X-linked recessive neurodevelopmental disorder with the association of arthrogryposis multiplex congenita and intellectual disability. The syndrome has been reported in 5 families to date, with fewer than 30 affected individuals described. Affected patients are male, while carrier females are often asymptomatic. Facial weakness (ptosis) and bulbar weakness (feeding difficulty), characteristic dysmorphic facial and skeletal abnormalities have been reported. Other neurological signs may include spasticity and seizures. Heterozygous female carriers may also be affected, but to a lesser degree (intellectual disability, distal muscle weakness, camptodactyly, joint contractures, and pes equinovarus). Caused by mutations in the ZC4H2 gene (Xq11.1) that is presumed to play a role in neuronal function during fetal growth.	componente obsoleto (metadato fundacional)
A severe and rare form of systemic mastocytosis with manifestation of considerable infiltration of mast cells in different tissues. It represents less than 10% of cases of systemic mastocytosis. This disease doesn't usually develop in children. Cutaneous involvement is normally absent. Patients present with severe symptoms related to mast cell invasion and the intense release of mediators including syncope, recurrent flushing, organomegaly and organ dysfunction. The most serious complication is potentially fatal anaphylactic shock.There is evidence of an activating mutation of KIT, usually D816V, in the mast cells of the vast majority of patients. The prognosis is poor with a median survival of 2 to 4 years.	componente obsoleto (metadato fundacional)
A severe anomaly of bile acid synthesis with manifestation of severe neonatal cholestatic liver disease. To date, only 2 cases of this disorder have been reported. Caused by mutations in the 7-alpha hydroxylase gene (CYP7B1, 8q21.3). The deficiency in oxysterol 7-alpha-hydroxylation leads to the accumulation of hepatotoxic unsaturated monohydroxy bile acids. The mode of transmission is presumed to be autosomal recessive.	componente obsoleto (metadato fundacional)
A severe condition with onset in infancy of encephalomyopathy and in many cases renal tubulopathy. Manifestations include hypotonia, failure to thrive, microcephaly, and difficulty controlling head movement, delayed motor skills, serious breathing difficulties and can result in life-threatening respiratory failure. Most affected infants have lactic acidosis, which may also be life-threatening. Also associated are gastrointestinal dysmotility, seizures and sensorineural hearing loss. The disease is caused by mutations in the RRM2B gene which provides instructions for making one piece of the protein ribonucleotide reductase (RNR). RRM2B gene mutations reduce the activity or amount of RNR, which likely impairs production of mitochondrial DNA nucleotides. Inherited in an autosomal recessive pattern.	componente obsoleto (metadato fundacional)
A severe congenital systemic autoimmune disease characterised by refractory diarrhoea, endocrinopathies, cutaneous involvement and infections. The syndrome usually develops during the first few days or weeks of life and affects exclusively boys. Caused by mutations in the FOXP3 gene (Xp11.23). This gene codes for a forkhead transcription factor which controls the development and function of CD4+ CD25+ regulatory T cells, a major lymphocyte population involved in downregulation of immune responses and self-tolerance. Transmission is X-linked recessive.	componente obsoleto (metadato fundacional)
A severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement and infections. The syndrome usually develops during the first few days or weeks of life and affects exclusively boys. Caused by mutations in the FOXP3 gene (Xp11.23). This gene codes for a forkhead transcription factor which controls the development and function of CD4+ CD25+ regulatory T cells, a major lymphocyte population involved in downregulation of immune responses and self-tolerance. Transmission is X-linked recessive.	componente obsoleto (metadato fundacional)
A severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility. The mode of transmission follows a Y-linked pattern, with incomplete penetrance, but as deletions are often associated with infertility, they generally occur de novo. Molecular diagnosis is made by PCR amplification of STS type sequences (sequence-tagged sites) from the AZFa, b, and c regions. All chromosome Y deletions do not necessarily lead to infertility: firstly, some deletions (especially some partial deletions) do not result in spermatogenesis defects; secondly, among men with severe oligospermia, some can father children without infertility treatment. Finally, when mature spermatozoa are found in the sperm or in the testicles, the infertility problem can be solved with medically assisted procreation techniques. However, there is a risk of transmitting the microdeletion to every male infant.	componente obsoleto (metadato fundacional)
A severe disorder with characteristics of muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. Since the first description of the disease in 1996, it has been described in less than 30 patients from 13 Italian (mainly Sardinian) families. Extensive paroxysmal muscular contractions in the face (resembling neonatal tetanus) develop after minimal stimuli. All patients described to date displayed facial anomalies, including a large face, chubby cheeks, a broad nose with anteverted nostrils and long philtrum and bilateral camptodactyly. Early in the neonatal period continuous hyperthermia develops (unrelated to infectious agents). Mutations in the CRLF1 gene are causative. Belongs to a group of conditions with overlapping features, including cold-induced sweating syndromes and Stüve-Wiedemann syndrome. The disease is transmitted as an autosomal recessive trait.	componente obsoleto (metadato fundacional)
A severe early-onset form of axonal Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy. Onset occurs in the neonatal period or early infancy with a clinical picture including hypotonia, scoliosis, a hoarse voice, vocal cord paralysis and respiratory insufficiency. However, nerve conduction velocities and pathological findings from sural nerve biopsies are indicative of a predominantly axonal neuropathy with some demyelinating features. Caused by mutations in the GDAP1 gene (8q13.3), encoding a protein required for mitochondrial fission.	componente obsoleto (metadato fundacional)
A severe fetal malformation syndrome with characteristics of craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities. Mostly present in families of Finnish descent. The syndrome also has characteristics of postaxial and preaxial polydactyly. Caused by mutations in HYLS1 (11q24.2) and KIF7 (15q26.1). Inheritance is autosomal recessive. Stillbirth or neonatal death is the rule, although rare cases with several months of survival have been reported.	componente obsoleto (metadato fundacional)
A severe fetal malformation syndrome with characteristics of craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities. Mostly present in families of Finnish descent. The syndrome also has characteristics of postaxial and preaxial polydactyly. Caused by mutations in HYLS1 (11q24.2) and KIF7 (15q26.1). Inheritance is autosomal recessive. Stillbirth or neonatal death is the rule, although rare cases with several months’ survival have been reported.	componente erróneo (metadato fundacional)
A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. Onset in the second or third decade has manifestations of ulceration and infection of the feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss. Tendon reflexes are only reduced at ankles and foot deformities including pes cavus or planus and hammer toes, appear in childhood.	componente obsoleto (metadato fundacional)
A severe form of developmental verbal apraxia with characteristics of a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters and comprehension delay. Hearing and intelligence are normal. Inheritance is autosomal dominant with full penetrance.	componente obsoleto (metadato fundacional)
A severe form of lissencephaly with cerebellar hypoplasia with main features microcephaly of at least 3 standard deviations and a thick cortex associated with complete absence of the corpus callosum.	componente obsoleto (metadato fundacional)
A severe form of lissencephaly with cerebellar hypoplasia with main features of severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death.	componente obsoleto (metadato fundacional)
A severe form of microphthalmia with characteristics of a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma. Nanophthalmia is generally bilateral. Strabism is present in most patients. Mutations in the MFRP gene (11q23.1) have been found to be responsible for the hereditary form with recessive transmission. Chromosomal anomalies involving chromosome 11p and 2q11-14 have been identified for autosomal dominant forms of nanophthalmia. It may be inherited as an autosomal dominant or recessive trait, or may occur sporadically.	componente obsoleto (metadato fundacional)
A severe form of nemaline myopathy with characteristics of severe hypotonia with little spontaneous movement in neonates. Neonates have sucking and swallowing difficulties, and gastroesophageal reflux, which leads to failure to thrive. Involvement of diaphragm and intercostal muscles contributes to respiratory insufficiency. Cardiomyopathy and arthrogryposis may occur. The ACTA1 (1q42.13) and NEB (2q22) genes are associated with this form of the disease. Transmission is autosomal recessive or occurs sporadically. Survival after infancy is rare.	componente obsoleto (metadato fundacional)
A severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability. Caused by heterozygous mutation in the KCNQ2 gene on chromosome 20q13.	componente obsoleto (metadato fundacional)
A severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behaviour, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability. Caused by heterozygous mutation in the KCNQ2 gene on chromosome 20q13.	componente obsoleto (metadato fundacional)
A severe form of neuronal ceroid lipofuscinosis with onset at birth and characteristics of primary microcephaly, neonatal epilepsy and death in early infancy. It is a rare form of neuronal ceroid lipofuscinosis with only around 10 cases reported in the literature so far. Patients present with postnatal respiratory insufficiency, seizures immediately after birth and a lower than normal head circumference. Transmitted in an autosomal recessive manner and is caused by mutations in the CTSD gene (designated CLN10; 11p15.5) encoding the lysosomal enzyme cathepsin D.	componente obsoleto (metadato fundacional)
A severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes with a triad of movement, psychiatric and cognitive abnormalities. Prevalence and incidence are unknown but this disease is very rare, with fewer than 50 families reported worldwide. Patients may develop psychiatric abnormalities as the initial manifestation, with later appearance of chorea, parkinsonism and dystonia. The disease may evolve from chorea to a more bradykinetic, dystonic phenotype, or remain parkinsonian. Caused by expanded trinucleotide repeats of the JPH3 junctophilin 3 gene (16q24.3). Affected individuals have CTG/CAG repeat expansions of 41-59 triplets (normal population: 6-27). Follows an autosomal dominant pattern of inheritance. A relentlessly progressive disorder with a poor prognosis.	componente obsoleto (metadato fundacional)
A severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism.	componente obsoleto (metadato fundacional)
A severe subtype of citrin deficiency characterised clinically by adult onset, recurrent episodes of hyperammonaemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behaviour, seizures and coma.	componente obsoleto (metadato fundacional)
A severe subtype of citrin deficiency characterized clinically by adult onset, recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior, seizures and coma.	componente obsoleto (metadato fundacional)
A severely disabling disease with manifestation of progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty. Familial forms appear to be very rare, with only three families identified so far. Age of onset in these familial cases ranges from 15-48. Transmission in familial cases is autosomal dominant and mutations in the type II collagen gene (COL2A1) have been detected in affected family members.	componente obsoleto (metadato fundacional)
A sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). This disorder is associated with delayed speech, learning difficulties, developmental delay and facial dysmorphism. Although disease severity is variable, the learning difficulties and developmental delay are generally mild to moderate. Commonly associated facial features include hypertelorism, upslanting palpebral fissures, epicanthal folds and a flat nasal bridge. Other anomalies may include dental abnormalities, hypotonia and joint laxity, radioulnar synostosis, heart defects, hip dysplasia, and ovarian dysfunction. An increased susceptibility to infections during childhood has also been reported.	componente obsoleto (metadato fundacional)

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Id	Description	Lang	Type	Status	Case?	Module
2911447019	conjunto de referencias atributo-valor de motivo de inactivación de descripciones	es	sinónimo (metadato del núcleo)	Active	uso de mayúsculas y minúsculas sin relevancia para la totalidad del término (metadato del núcleo)	Latin American Spanish extension module
2911569012	conjunto de referencias atributo-valor de motivo de inactivación de descripciones (metadato fundacional)	es	descripción completa	Active	uso de mayúsculas y minúsculas sin relevancia para la totalidad del término (metadato del núcleo)	Latin American Spanish extension module
900000000001069012	Description inactivation indicator attribute value reference set	en	sinónimo (metadato del núcleo)	Active	uso de mayúsculas y minúsculas sin relevancia para la totalidad del término (metadato del núcleo)	módulo identificador para componentes del modelo de SNOMED CT (metadato del núcleo)
900000000001070013	Description inactivation indicator reference set	en	sinónimo (metadato del núcleo)	Active	uso de mayúsculas y minúsculas sin relevancia para la totalidad del término (metadato del núcleo)	módulo identificador para componentes del modelo de SNOMED CT (metadato del núcleo)
900000000001071012	Description inactivation indicator attribute value reference set (foundation metadata concept)	en	descripción completa	Active	uso de mayúsculas y minúsculas sin relevancia para la totalidad del término (metadato del núcleo)	módulo identificador para componentes del modelo de SNOMED CT (metadato del núcleo)