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 infantile epilepsy syndrome characterized by seizures presenting with motion arrest and staring. They are followed by generalized tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by generalization in ictal EEG. Seizures usually occur in clusters and are responsive to treatment. Psychomotor development is normal.	componente obsoleto (metadato fundacional)
A rare infantile epilepsy syndrome with characteristics of benign afebrile seizures in previously healthy infants and children (age range 1 month to 6 years) with mild acute gastroenteritis without any central nervous system infection, severe dehydration, or electrolyte imbalances. In most cases the seizures are tonic-clonic with focal origin on EEG, occur between day 1 and 6 following onset of acute gastroenteritis, cease within 24 hours and do not persist after the illness.	componente obsoleto (metadato fundacional)
A rare infectious disease with characteristics of familial primary chronic Epstein-Barr virus infection, which typically manifests with persistent mononucleosis-like signs and symptoms in the absence of secondary immunodeficiency.	componente obsoleto (metadato fundacional)
A rare infectious skin disease characterised by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to Polyomavirus infection in immunocompromised patients.	componente obsoleto (metadato fundacional)
A rare infectious skin disease characterized by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to Polyomavirus infection in immunocompromized patients.	componente obsoleto (metadato fundacional)
A rare inflammatory bowel disease with characteristics of early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurrent colitis that leads to untreatable diarrhea. There have been no further descriptions in the literature since 1991.	componente obsoleto (metadato fundacional)
A rare inflammatory bowel disease with characteristics of early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurrent colitis that leads to untreatable diarrhoea. There have been no further descriptions in the literature since 1991.	componente obsoleto (metadato fundacional)
A rare inflammatory eye disease of unknown aetiology characterised by generalised inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular oedema and/or retinal detachment. It could potentially result in vision loss.	componente obsoleto (metadato fundacional)
A rare inflammatory eye disease of unknown etiology characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss.	componente obsoleto (metadato fundacional)
A rare inflammatory eye disease with characteristics of IgG4 (immunoglobulin G4) immunopositive lymphocyte and plasmacyte infiltration and collagenous fibrosis of affected tissue and elevated serum levels of IgG4. Clinical presentation includes mass lesion or swelling of the involved structures, commonly involving lacrimal gland and duct, infraorbital and supraorbital nerves, extraocular muscles and orbital soft tissues. A systemic involvement is common.	componente obsoleto (metadato fundacional)
A rare inflammatory myopathy characterised by diffuse destructive infiltration of CD68 positive macrophages into the fascia rather than muscle fibres in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI.	componente obsoleto (metadato fundacional)
A rare inflammatory myopathy characterized by diffuse destructive infiltration of CD68 positive macrophages into the fascia rather than muscle fibers in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI.	componente obsoleto (metadato fundacional)
A rare inflammatory necrotising systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs, including the kidney, the lungs, the skin and the peripheral nerves. This disease is an antineutrophil cytoplasmic autoantibodies (ANCA)-associated autoimmune disease with little or no immune complex deposition. Evidence indicates that ANCA can activate neutrophils and monocytes and cause them to attack vessel walls.	componente obsoleto (metadato fundacional)
A rare inflammatory necrotizing systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs, including the kidney, the lungs, the skin and the peripheral nerves. This disease is an antineutrophil cytoplasmic autoantibodies (ANCA)-associated autoimmune disease with little or no immune complex deposition. Evidence indicates that ANCA can activate neutrophils and monocytes and cause them to attack vessel walls.	componente obsoleto (metadato fundacional)
A rare inflammatory optic neuropathy characterised by recurrent episodes of idiopathic inflammation of the optic nerve head with optic disc oedema associated with macular exudate in a star-shaped pattern. Patients present with acute visual loss most typically in the form of a large central scotoma. Pain is mild or absent. Bilateral involvement is frequent and usually sequential. The interval between attacks is highly variable ranging from months to several years. Visual loss is cumulative with each attack and often severe.	componente obsoleto (metadato fundacional)
A rare inflammatory optic neuropathy characterized by recurrent episodes of idiopathic inflammation of the optic nerve head with optic disc edema associated with macular exudate in a star-shaped pattern. Patients present with acute visual loss most typically in the form of a large central scotoma. Pain is mild or absent. Bilateral involvement is frequent and usually sequential. The interval between attacks is highly variable ranging from months to several years. Visual loss is cumulative with each attack and often severe.	componente obsoleto (metadato fundacional)
A rare inflammatory optic neuropathy with characteristics of severe and persistent pain followed by subacute visual loss, a relapsing-remitting course and steroid-dependence. Involvement of both optic nerves is common and is usually sequential. Serum antibodies against aquaporin 4 are absent in most cases. Magnetic resonance imaging shows contrast enhancement of the acutely inflamed optic nerves.	componente obsoleto (metadato fundacional)
A rare inherited bleeding disorder with characteristics of defective platelet adhesion and secondary coagulation defect that manifests as abnormal bleeding of variable severity occurring either spontaneously or in association with an invasive procedure. Three main subtypes are defined based on the type of von Willebrand factor defect: partial (type 1) or total (type 3) deficiency, and qualitative/functional anomalies (type 2). Caused by mutations in the VWF gene (12p13.3) encoding the multimeric VWF protein. Most often transmitted in an autosomal dominant manner, however, the mode of inheritance is autosomal recessive for type 3 VWD and for some of the type 2 subtypes.	componente obsoleto (metadato fundacional)
A rare inherited bone marrow failure syndrome with manifestation of an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood. The exact prevalence is unknown and less than 100 cases have been reported in the literature. The inheritance pattern is autosomal recessive.	componente obsoleto (metadato fundacional)
A rare inherited cancer-predisposing syndrome characterised by occurrence of multiple synchronous primary carcinoids of the small intestine. Clinical presentation is otherwise indistinguishable from sporadic carcinoids and includes abdominal pain, flushing, and diarrhoea, often becoming manifest only after a long asymptomatic period. Most patients present with low grade tumours. Occurrence of pulmonary carcinoids has also been reported.	concepto inactivo (metadato fundacional)
A rare inherited cancer-predisposing syndrome characterised by the development of a broad spectrum of malignancies during childhood, including mainly brain, haematological and gastrointestinal cancers, although embryonic and other tumours have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (for example cafe au lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polyps) are frequently present before malignancy development.	componente obsoleto (metadato fundacional)
A rare inherited cancer-predisposing syndrome characterized by occurrence of multiple synchronous primary carcinoids of the small intestine. Clinical presentation is otherwise indistinguishable from sporadic carcinoids and includes abdominal pain, flushing, and diarrhea, often becoming manifest only after a long asymptomatic period. Most patients present with low grade tumors. Occurrence of pulmonary carcinoids has also been reported.	concepto inactivo (metadato fundacional)
A rare inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (for example cafe au lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polyps) are frequently present before malignancy development.	componente obsoleto (metadato fundacional)
A rare inherited cancer-predisposing syndrome with characteristics of early development of cutaneous telangiectasia, mild dental and nail anomalies, patchy alopecia over the affected skin areas and increased lifetime risk for oropharyngeal cancer. Other types of cancer have also been reported. There is evidence the disease is caused by heterozygous mutation in the ATR gene on chromosome 3q23.	componente obsoleto (metadato fundacional)
A rare inherited cancer-predisposing syndrome with characteristics of early-onset hepatocellular carcinoma, genomic instability and progeroid features, such as short stature, low body weight, muscular atrophy, lipodystrophy, bilateral cataracts and premature hair graying. Dysmorphic craniofacial features include triangular face, small, deep-set eyes and micrognathia. Kyphoscoliosis, sloping shoulders, mild pectus excavatum, bilateral contractures of the elbows and fingers, bilateral clinodactyly and pes planus have also been reported.	componente obsoleto (metadato fundacional)
A rare inherited cancer-predisposing syndrome with characteristics of early-onset hepatocellular carcinoma, genomic instability and progeroid features, such as short stature, low body weight, muscular atrophy, lipodystrophy, bilateral cataracts and premature hair greying. Dysmorphic craniofacial features include triangular face, small, deep-set eyes and micrognathia. Kyphoscoliosis, sloping shoulders, mild pectus excavatum, bilateral contractures of the elbows and fingers, bilateral clinodactyly and pes planus have also been reported.	componente obsoleto (metadato fundacional)
A rare inherited epidermolysis bullosa (EB) with characteristics of skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes. Kindler epidermolysis bullosa (KEB) is the fourth major type of EB, after EB simplex, junctional EB, and dystrophic EB. The disease usually manifests at birth with trauma-induced skin blistering that is more prominent on extremities and tends to regress with age, becoming rare in adulthood. Caused by loss-of-function mutations in the kindlin-1 gene (FERMT1; 20p12.3). Transmission is autosomal recessive.	componente obsoleto (metadato fundacional)
A rare inherited epidermolysis bullosa with characteristics of aplasia cutis congenita on the extremities, leaving behind hypopigmentation and atrophy in a whirled pattern. Generalised blistering persists during childhood and heals with cutaneous and follicular atrophy, linear and stellate scars and hypopigmentation. Skin fragility decreases with adulthood. Adult patients exhibit dyspigmentation and atrophy of the skin, scars, follicular atrophoderma, sparse body hair, progressive diffuse alopecia of the scalp, diffuse palmoplantar keratoderma, and nail changes. Dilative cardiomyopathy with heart failure complicates the disease course in young adulthood or later and may have lethal outcome. Ultra-structurally, intraepidermal splitting appears at the level of the basal keratinocytes above the hemidesmosomes.	componente obsoleto (metadato fundacional)
A rare inherited epidermolysis bullosa with characteristics of aplasia cutis congenita on the extremities, leaving behind hypopigmentation and atrophy in a whirled pattern. Generalized blistering persists during childhood and heals with cutaneous and follicular atrophy, linear and stellate scars and hypopigmentation. Skin fragility decreases with adulthood. Adult patients exhibit dyspigmentation and atrophy of the skin, scars, follicular atrophoderma, sparse body hair, progressive diffuse alopecia of the scalp, diffuse palmoplantar keratoderma, and nail changes. Dilative cardiomyopathy with heart failure complicates the disease course in young adulthood or later and may have lethal outcome. Ultra-structurally, intraepidermal splitting appears at the level of the basal keratinocytes above the hemidesmosomes.	componente obsoleto (metadato fundacional)
A rare inherited form of cutaneous melanoma with characteristics of development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family. It is thought to account for about 10% of all cases of cutaneous melanoma. Tends to occur earlier than non-familial melanoma. The risk of familial melanoma is closely related to a wide range of genetic alterations in susceptibility genes but also appears to be influenced by phenotypic risk factors, such as pigmentation, freckling and sun reactions. Complex interactions between genetic and environmental factors are therefore thought to underlie the disease. The most common high-penetrance susceptibility gene implicated is CDKN2A, accounting for predisposition in approximately 20% of cases. In some affected families, susceptibility is consistent with autosomal dominant inheritance but in most cases, a polygenic mode of inheritance appears likely.	componente obsoleto (metadato fundacional)
A rare inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis. The disease has characteristics of intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.	componente obsoleto (metadato fundacional)
A rare inherited neuromuscular disease with prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning. This results in joint abnormalities that may involve both lower and upper extremities and is usually symmetric. Also associated with severe hypotonia at birth, bilateral club foot, motor development delay, mild facial weakness without ophthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement and progressive disease course with loss of ambulation after the first decade of life.	componente obsoleto (metadato fundacional)
A rare inherited popliteal pterygium syndrome with characteristics of severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, genital abnormalities and additional ectodermal anomalies (absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period but survival into childhood has been reported.	componente obsoleto (metadato fundacional)
A rare inherited rheumatologic disease which causes calcification of articular fibrocartilage or hyaline cartilage. It often associates with acute synovitis and osteoarthritis. The disease manifests in early adulthood (20-40 years old) and has a variable clinical phenotype. Mutations in the ANKH gene (human homologue of progressive ankylosis; 5p15.2), encoding a protein involved in cellular inorganic pyrophosphate transport, were identified in some cases of familial CPPD. Other familial cases have been linked to mutation in the Tumor Necrosis Factor Receptor Super Family member 11B (TNFRSF11B) gene coding for osteoprotegerin (OPG) Other causative genes are yet to be determined. Has an autosomal dominant mode of inheritance with variable penetrance.	componente obsoleto (metadato fundacional)
A rare inherited rheumatologic disease which causes calcification of articular fibrocartilage or hyaline cartilage. It often associates with acute synovitis and osteoarthritis. The disease manifests in early adulthood (20-40 years old) and has a variable clinical phenotype. Mutations in the ANKH gene (human homologue of progressive ankylosis; 5p15.2), encoding a protein involved in cellular inorganic pyrophosphate transport, were identified in some cases of familial CPPD. Other familial cases have been linked to mutation in the Tumour Necrosis Factor Receptor Super Family member 11B (TNFRSF11B) gene coding for osteoprotegerin (OPG) Other causative genes are yet to be determined. Has an autosomal dominant mode of inheritance with variable penetrance.	componente obsoleto (metadato fundacional)
A rare inherited skin cancer syndrome with the coexistence of features characteristic of both multiple keratoacanthoma, Ferguson Smith type and generalised eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant.	componente obsoleto (metadato fundacional)
A rare inherited skin cancer syndrome with the coexistence of features characteristic of both multiple keratoacanthoma, Ferguson Smith type and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant.	componente obsoleto (metadato fundacional)
A rare inherited skin hyperpigmentation disorder with characteristics of widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa.	componente obsoleto (metadato fundacional)
A rare intellectual disability and epilepsy syndrome characterised by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalised seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.	componente obsoleto (metadato fundacional)
A rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.	componente obsoleto (metadato fundacional)
A rare intellectual disability syndrome characterised by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioural abnormalities (e.g. anxiety, stereotyped movements) and absence or generalised tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly. The disease is caused by homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13.	componente obsoleto (metadato fundacional)
A rare intellectual disability syndrome characterised by pre and postnatal growth deficiency, generalised muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency has also been reported in some patients.	componente obsoleto (metadato fundacional)
A rare intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly. The disease is caused by homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13.	componente obsoleto (metadato fundacional)
A rare intellectual disability syndrome characterized by pre and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency has also been reported in some patients.	componente obsoleto (metadato fundacional)
A rare intellectual disability syndrome with characteristics of growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe.	componente obsoleto (metadato fundacional)
A rare intellectual disability syndrome with characteristics of severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).	componente obsoleto (metadato fundacional)
A rare intellectual disability syndrome with manifestations of severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias.	componente obsoleto (metadato fundacional)
A rare intellectual disability syndrome with most common characteristics of megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.	componente obsoleto (metadato fundacional)
A rare intestinal disease characterised by persistent or recurrent symptoms and signs of confirmed coeliac disease despite a long-term, strict, gluten-free diet, in the absence of other causes of villous atrophy or malignant complications and with or without presence of increased abnormal intraepithelial lymphocytes.	componente obsoleto (metadato fundacional)
A rare intestinal disease characterized by persistent or recurrent symptoms and signs of confirmed celiac disease despite a long-term, strict, gluten-free diet, in the absence of other causes of villous atrophy or malignant complications and with or without presence of increased abnormal intraepithelial lymphocytes.	componente obsoleto (metadato fundacional)
A rare intestinal disease with characteristics of congenital partial or complete lack of the collagen mesh network in the intestinal wall resulting in hypoperistalsis or aperistalsis. The enteric nervous system is normal or near normal in the affected areas, although hypo and dysganglionosis may be found in some proximal segments of the colon and/or small bowel. Patients present with chronic intractable slow transit constipation.	componente obsoleto (metadato fundacional)
A rare intestinal disorder characterised by the inability to control the passage of rectal contents (faeces, gas) through the anus following ileal pouch-anal anastomosis surgery. Faecal incontinence is usually more frequent during the night than during daytime. The condition generally worsens over time with a significant negative impact on the quality of life of the patient.	componente obsoleto (metadato fundacional)
A rare intestinal disorder characterized by the inability to control the passage of rectal contents (feces, gas) through the anus following ileal pouch-anal anastomosis surgery. Fecal incontinence is usually more frequent during the night than during daytime. The condition generally worsens over time with a significant negative impact on the quality of life of the patient.	componente obsoleto (metadato fundacional)
A rare intestinal disorder of neonates of unknown aetiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhoea, vomiting and failure to thrive.	componente obsoleto (metadato fundacional)
A rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.	componente obsoleto (metadato fundacional)
A rare intoxication affecting children, most commonly characterised by erythema of the hands, feet and nose, oedematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paraesthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss, and insomnia.	componente obsoleto (metadato fundacional)
A rare intoxication affecting children, most commonly characterized by erythema of the hands, feet and nose, edematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paresthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss, and insomnia.	componente obsoleto (metadato fundacional)
A rare isolated constitutional thrombocytopenia characterised by reduced platelet count and defective platelet ATP secretion, resulting in increased bleeding tendency. Clinical manifestations are easy bruising, gum bleeding, menorrhagia, spontaneous epistaxis, spontaneous muscle haematoma and potential postpartum haemorrhage among others.	componente obsoleto (metadato fundacional)
A rare isolated constitutional thrombocytopenia characterized by reduced platelet count and defective platelet ATP secretion, resulting in increased bleeding tendency. Clinical manifestations are easy bruising, gum bleeding, menorrhagia, spontaneous epistaxis, spontaneous muscle hematoma and potential postpartum hemorrhage among others.	componente obsoleto (metadato fundacional)
A rare isolated constitutional thrombocytopenia with characteristics of neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections.	componente obsoleto (metadato fundacional)
A rare isolated hereditary giant platelet disorder characterised by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestations are recurrent bleeding episodes including epistaxis, spontaneous haematoma and menorrhagia.	componente obsoleto (metadato fundacional)
A rare isolated hereditary giant platelet disorder characterized by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestations are recurrent bleeding episodes including epistaxis, spontaneous hematoma and menorrhagia.	componente obsoleto (metadato fundacional)
A rare isolated nail anomaly with characteristics of claw-shaped thick hyperplastic hard and hyperpigmented nails, subungual hyperkeratosis, onycholysis and slow nail growth. Variable degree of disease severity has been reported. There is evidence the disease can be caused by homozygous mutation in the FZD6 gene on chromosome 8q22.3-q23.1.	componente obsoleto (metadato fundacional)
A rare juvenile idiopathic inflammatory myopathy characterised by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (for example systemic lupus erythematosus, localised scleroderma, diabetes). Cardiac involvement has been reported in some patients.	componente obsoleto (metadato fundacional)
A rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (for example systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients.	componente obsoleto (metadato fundacional)
A rare larynx anomaly with a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, feeding difficulties and failure to thrive. It can be associated with laryngomalacia.	componente obsoleto (metadato fundacional)
A rare late adult-onset myofibrillar myopathy with characteristics of progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.	componente obsoleto (metadato fundacional)
A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.	componente obsoleto (metadato fundacional)
A rare lethal congenital myopathy syndrome characterised by decreased fetal movements and polyhydramnios in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal haemorrhages and decreased birth weight in the neonate.	componente obsoleto (metadato fundacional)
A rare lethal congenital myopathy syndrome characterized by decreased fetal movements and polyhydramnios in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.	componente obsoleto (metadato fundacional)
A rare lethal developmental defect during embryogenesis with characteristics of severe fetal malformations. These malformations include craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile hypoplastic limbs encased under an abnormal, transparent membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horseshoe kidneys, diaphragm and lung lobulation defects is reported.	componente obsoleto (metadato fundacional)
A rare lethal multiple congenital anomalies/dysmorphic syndrome with the association of fetal akinesia sequence, bilateral microphthalmia, microtia and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported.	componente obsoleto (metadato fundacional)
A rare lethal primary bone dysplasia with characteristics of fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.	componente obsoleto (metadato fundacional)
A rare leucodystrophy characterised by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy and diffuse spinal cord volume loss.	componente obsoleto (metadato fundacional)
A rare leukodystrophy characterized by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy and diffuse spinal cord volume loss.	componente obsoleto (metadato fundacional)
A rare life threatening acquired neurologic disease with characteristics of neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases.	componente obsoleto (metadato fundacional)
A rare life-threatening autoinflammatory syndrome with immune deficiency disorder characterised by early-onset life-long inflammation affecting the skin and bowel associated with recurrent infections. Presents with perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhoea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis.	componente obsoleto (metadato fundacional)
A rare life-threatening autoinflammatory syndrome with immune deficiency disorder characterized by early-onset life-long inflammation affecting the skin and bowel associated with recurrent infections. Presents with perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis.	componente obsoleto (metadato fundacional)
A rare life-threatening congenital non-syndromic conotruncal heart malformation with characteristics of absent or severely undeveloped pulmonary valve leaflets (with a restrictive ring of thickened tissue at the place of the pulmonary valve annulus) associated with an intact ventricular septum and a patent ductus arteriosus, manifesting with marked respiratory insufficiency. Additional features include dilated main pulmonary artery (with or without dilatation of pulmonary artery branches), to-and-fro flow at site of the dysplastic pulmonary valve and systolic pressure gradient across narrowed pulmonary valve. Tricuspid atresia and variable extra-cardiac anomalies (for example diaphragmatic hernia or cleft lip/palate) may be present.	componente obsoleto (metadato fundacional)
A rare life-threatening cutaneous disease characterised by a keratinocytic epidermal naevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period.	componente obsoleto (metadato fundacional)
A rare life-threatening cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period.	componente obsoleto (metadato fundacional)
A rare life-threatening genetic coagulation disorder with characteristics of an increased risk of blood clot formation in several members of a family due to a thrombomodulin gene mutation. Patients may manifest with venous thromboembolic disease, premature myocardial infarction and/or arterial thrombosis.	componente obsoleto (metadato fundacional)
A rare life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterised by vomiting, diarrhoea and central nervous system excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by central nervous system depression, coma and cerebral oedema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalaemia and hypocalcaemia and progressive renal failure leading to anuria. Myoglobinaemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours.	componente obsoleto (metadato fundacional)
A rare life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterized by vomiting, diarrhea and central nervous system excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by central nervous system depression, coma and cerebral edema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalemia and hypocalcemia and progressive renal failure leading to anuria. Myoglobinemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours.	componente obsoleto (metadato fundacional)
A rare life-threatening mitochondrial DNA depletion syndrome disease with characteristics of severe progressive sensorimotor neuropathy associated with corneal ulceration, scarring or anaesthesia, acral mutilation, metabolic and immunologic derangement and hepatopathy (which can manifest with fulminant hepatic failure, a Reye-like syndrome or indolent progression to liver cirrhosis, depending on clinical form involved), present in the Navajo Native American population. Clinical presentation includes failure to thrive, distal limb weakness with reduced sensation, limb contractures with loss of function, areflexia, recurrent metabolic acidosis with intercurrent illness, immunologic anomalies manifesting with severe systemic infections and sexual infantilism.	componente obsoleto (metadato fundacional)
A rare life-threatening mitochondrial DNA depletion syndrome disease with characteristics of severe progressive sensorimotor neuropathy associated with corneal ulceration, scarring or anesthesia, acral mutilation, metabolic and immunologic derangement and hepatopathy (which can manifest with fulminant hepatic failure, a Reye-like syndrome or indolent progression to liver cirrhosis, depending on clinical form involved), present in the Navajo Native American population. Clinical presentation includes failure to thrive, distal limb weakness with reduced sensation, limb contractures with loss of function, areflexia, recurrent metabolic acidosis with intercurrent illness, immunologic anomalies manifesting with severe systemic infections and sexual infantilism.	componente obsoleto (metadato fundacional)
A rare life-threatening neurometabolic disease with characteristics of a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.	componente obsoleto (metadato fundacional)
A rare life-threatening non-inflammatory vasculopathy disorder characterised by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually cause necrotic ulcerations of the tissue. Patients may present with dyspnoea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death, depending on the affected organ. The disease mainly affects patients on dialysis or patients having undergone renal transplantation.	componente obsoleto (metadato fundacional)
A rare life-threatening non-inflammatory vasculopathy disorder characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually cause necrotic ulcerations of the tissue. Patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death, depending on the affected organ. The disease mainly affects patients on dialysis or patients having undergone renal transplantation.	componente obsoleto (metadato fundacional)
A rare lipoprotein metabolism disorder characterised clinically by corneal opacities and sometimes renal failure and haemolytic anaemia, and biochemically by severely reduced HDL cholesterol. Age of onset is variable but most patients are diagnosed during adulthood. Two familial forms of LCAT deficiency have been reported: familial LCAT deficiency characterised by corneal opacities, anaemia and renal insufficiency and Fish-eye disease characterised by corneal opacities and sometimes atherosclerosis. LCAT deficiency is caused by deficient or absent catalytic activity of the LCAT enzyme, which catalyses the formation of cholesterol esters in lipoproteins and is encoded by the LCAT gene (16q22.1). Accumulation of unesterified cholesterol in the body for example in the cornea, erythrocytes and kidneys, is thought to underlie the clinical manifestations.	componente obsoleto (metadato fundacional)
A rare lipoprotein metabolism disorder characterized clinically by corneal opacities and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol. Age of onset is variable but most patients are diagnosed during adulthood. Two familial forms of LCAT deficiency have been reported: familial LCAT deficiency characterized by corneal opacities, anemia and renal insufficiency, and Fish-eye disease characterized by corneal opacities and sometimes atherosclerosis. LCAT deficiency is caused by deficient or absent catalytic activity of the LCAT enzyme, which catalyzes the formation of cholesterol esters in lipoproteins and is encoded by the LCAT gene (16q22.1). Accumulation of unesterified cholesterol in the body for example in the cornea, erythrocytes and kidneys, is thought to underlie the clinical manifestations.	componente obsoleto (metadato fundacional)
A rare lipoprotein metabolism disorder with biochemical characteristics of an almost complete absence of plasma high-density lipoproteins (HDL) and clinical characteristics of liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents and occasionally cardiovascular disease in adults. Approximately 100 cases have been described worldwide. The disease is due to mutations in the ABCA1 gene (9q31) encoding the ATP-binding cassette transporter (ABC1), a cholesterol efflux regulatory protein that is able to orient cellular cholesterol towards the cell surface and to facilitate its transfer towards the core of HDL. Mutations in this gene result in severe deficiency of plasma HDL cholesterol and deposition of cholesteryl and retinyl esters and carotenoids in nonadipose tissues. Transmission is autosomal recessive.	componente obsoleto (metadato fundacional)
A rare localised variant of Guillain-Barré syndrome characterised by rapidly progressive bilateral facial nerve palsy, distal paraesthesia and minimal or no motor weakness. Deep tendon reflexes are usually diminished or absent but can be present or even exaggerated in rare cases. Cerebrospinal fluid analysis may reveal albuminocytologic dissociation. Nerve conduction velocity studies often show demyelinating type of neuropathy although axonal polyneuropathy has been also described.	componente obsoleto (metadato fundacional)
A rare localized variant of Guillain-Barré syndrome characterized by rapidly progressive bilateral facial nerve palsy, distal paresthesia and minimal or no motor weakness. Deep tendon reflexes are usually diminished or absent but can be present or even exaggerated in rare cases. Cerebrospinal fluid analysis may reveal albuminocytologic dissociation. Nerve conduction velocity studies often show demyelinating type of neuropathy although axonal polyneuropathy has been also described.	componente obsoleto (metadato fundacional)
A rare lymphatic system anomaly with characteristics of multifocal congenital and progressive vascular lesions of the skin, gastrointestinal tract and occasionally other anatomic sites, causing potentially life-threatening thrombocytopenic coagulopathy. Macroscopically the lesions appear as round to oval red-brown plaques and as large as a few centimeters in diameter. Histopathologically they consist of dilated thin-walled vessels with variable endothelial hyperplasia, positive for lymphatic endothelial cell markers and resembling benign lymphangioendothelioma.	componente obsoleto (metadato fundacional)
A rare lymphatic system anomaly with characteristics of multifocal congenital and progressive vascular lesions of the skin, gastrointestinal tract and occasionally other anatomic sites, causing potentially life-threatening thrombocytopenic coagulopathy. Macroscopically the lesions appear as round to oval red-brown plaques and as large as a few centimetres in diameter. Histopathologically they consist of dilated thin-walled vessels with variable endothelial hyperplasia, positive for lymphatic endothelial cell markers and resembling benign lymphangioendothelioma.	componente obsoleto (metadato fundacional)
A rare lymphoid haemopathy defined as single or multiple tumours in the bone, not associated with infringement or violation of other extranodal malignant lymph nodes outside the area. It usually presents with bone pain, nerve compression, a palpable mass or fracture, while systemic features (fever, night sweats, fatigue, loss of appetite, weight loss) are not common.	componente obsoleto (metadato fundacional)
A rare lymphoid hemopathy defined as single or multiple tumors in the bone, not associated with infringement or violation of other extranodal malignant lymph nodes outside the area. It usually presents with bone pain, nerve compression, a palpable mass or fracture, while systemic features (fever, night sweats, fatigue, loss of appetite, weight loss) are not common.	componente obsoleto (metadato fundacional)
A rare lymphoma of the lung defined as a clonal lymphoid proliferation affecting one or both lungs in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. Comprises low grade/indolent B cell forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell and lymphomatoid granulomatosis. Very rare and represents only 3-4% of extranodal non-Hodgkin lymphoma.	componente obsoleto (metadato fundacional)
A rare lymphoma with concurrent occurrence of two or more histologic types of lymphoma involving the same anatomic site. Composite lymphomas can be combinations of two non-Hodgkin lymphomas or of a non-Hodgkin and a Hodgkin lymphoma. In many cases, the neoplasms are clonally related. Clinical presentation and treatment are determined by the more aggressive component.	componente obsoleto (metadato fundacional)
A rare macular disorder with characteristics mostly of a variable degree of decreased visual acuity, jerk or pendular nystagmus and typical ocular findings at imaging. The disease is usually bilateral. Rarely nystagmus can be absent. Locally the disease has characteristics of an underdeveloped foveal pit, absence of foveal pigmentation and/or foveal avascular zone and persistence of inner retinal layers at the fovea in absence of concomitant ocular or systemic pathology.	componente obsoleto (metadato fundacional)

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Reference Sets

conjunto de referencias descriptivas de la estructura de otros conjuntos de referencias

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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)