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 hereditary cerebellar ataxia disorder with characteristics of late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging. There is evidence the disease is caused by homozygous mutation in the SYT14 gene on chromosome 1q32.	componente obsoleto (metadato fundacional)
A rare hereditary cerebral malformation with epilepsy syndrome with characteristics of severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts.	componente obsoleto (metadato fundacional)
A rare hereditary developmental defect with connective tissue involvement and characteristics of cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.	componente obsoleto (metadato fundacional)
A rare hereditary disease with peripheral neuropathy with characteristics of distal sensorimotor or motor neuropathy of the lower limbs with muscle weakness and atrophy. Some patients show overt connective tissue disease with signs and symptoms like increased skin elasticity and easy bruising (but no atrophic scarring), decreased clotting, aortic aneurysms, joint hypermobility and recurrent tendon ruptures.	componente obsoleto (metadato fundacional)
A rare hereditary disorder with the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983.	componente obsoleto (metadato fundacional)
A rare hereditary familial primary hyperparathyroidism disease with characteristics of primary hyperparathyroidism due to single or multiple parathyroid tumors in at least two first-degree relatives in the absence of evidence of other endocrine disorders, tumors and/or systemic manifestations.	componente obsoleto (metadato fundacional)
A rare hereditary familial primary hyperparathyroidism disease with characteristics of primary hyperparathyroidism due to single or multiple parathyroid tumours in at least two first-degree relatives in the absence of evidence of other endocrine disorders, tumours and/or systemic manifestations.	componente obsoleto (metadato fundacional)
A rare hereditary gastric cancer with characteristics of proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, without duodenal or colorectal polyposis.	componente obsoleto (metadato fundacional)
A rare hereditary haematologic disease characterised by an increase in haemoglobin, haematocrit and erythrocyte mass resulting in plethora or ruddy complexion, headache, dizziness, tinnitus and exertional dyspnoea. In some cases, thrombophlebitis and arthralgia have also been reported.	componente obsoleto (metadato fundacional)
A rare hereditary haemochromatosis characterised by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.	componente obsoleto (metadato fundacional)
A rare hereditary haemolytic anaemia due to a red cell membrane anomaly characterised by fatigue, mild anaemia and pseudohyperkalaemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade. There is evidence this disease is caused by heterozygous mutation in the SLC4A1 gene on chromosome 17q21.	componente obsoleto (metadato fundacional)
A rare hereditary hematologic disease characterized by an increase in hemoglobin, hematocrit and erythrocyte mass resulting in plethora or ruddy complexion, headache, dizziness, tinnitus and exertional dyspnea. In some cases, thrombophlebitis and arthralgia have also been reported.	componente obsoleto (metadato fundacional)
A rare hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.	componente obsoleto (metadato fundacional)
A rare hereditary hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade. There is evidence this disease is caused by heterozygous mutation in the SLC4A1 gene on chromosome 17q21.	componente obsoleto (metadato fundacional)
A rare hereditary immune deficiency with skin involvement characterised by early-onset cold urticaria after generalised exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease. Caused by heterozygous deletion within the PLCG2 gene on chromosome 16q23.	componente obsoleto (metadato fundacional)
A rare hereditary immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease. Caused by heterozygous deletion within the PLCG2 gene on chromosome 16q23.	componente obsoleto (metadato fundacional)
A rare hereditary mitochondrial oxidative phosphorylation disorder characterised by severe neonatal lactic acidosis and deficiency of mitochondrial complexes I, II and III. Clinical features are variable and may include hypotonia, respiratory distress with cyanosis, failure to thrive, feeding difficulties, hypoglycaemia, dehydration, vomiting, seizures, and a risk of multiple organ failure.	componente obsoleto (metadato fundacional)
A rare hereditary mitochondrial oxidative phosphorylation disorder characterized by severe neonatal lactic acidosis and deficiency of mitochondrial complexes I, II and III. Clinical features are variable and may include hypotonia, respiratory distress with cyanosis, failure to thrive, feeding difficulties, hypoglycemia, dehydration, vomiting, seizures, and a risk of multiple organ failure.	componente obsoleto (metadato fundacional)
A rare hereditary motor and sensory neuropathy disorder with characteristics of the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range. Caused by heterozygous mutation in the GNB4 gene on chromosome 3q26.	componente obsoleto (metadato fundacional)
A rare hereditary motor and sensory neuropathy with characteristics of childhood onset of unsteady gait, pes cavus, frequent falls and foot dorsiflexor weakness slowly progressing to distal upper and lower limb muscle weakness and atrophy, distal sensory impairment and reduced tendon reflexes. Additional symptoms may include bilateral sensorineural hearing impairment and neuropathic pain.	componente obsoleto (metadato fundacional)
A rare hereditary motor and sensory neuropathy with characteristics of flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.	componente obsoleto (metadato fundacional)
A rare hereditary motor and sensory neuropathy with characteristics of intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.	componente obsoleto (metadato fundacional)
A rare hereditary motor and sensory neuropathy with characteristics of intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.	componente obsoleto (metadato fundacional)
A rare hereditary neurologic disease with characteristics of early-onset cognitive impairment as a sole disability. The disease may be associated with autism, epilepsy and neuromuscular deficits.	componente obsoleto (metadato fundacional)
A rare hereditary non-dystrophic myopathy with characteristics of proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported and include ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy. There is evidence the disease is caused by homozygous mutation in the MICU1 gene on chromosome 10q22.	componente obsoleto (metadato fundacional)
A rare hereditary non-syndromic form of vitreoretinopathy with characteristics of retinal tears due to abnormal vitreous and commonly present refractive errors. No other signs or symptoms of Stickler syndrome are present. Can be caused by mutation in the COL2A1 gene.	componente obsoleto (metadato fundacional)
A rare hereditary nonmedullary thyroid carcinoma characterised by the presence of differentiated thyroid cancer of follicular cell origin in two or more first-degree relatives, in the absence of other familial tumour syndromes or radiation exposure. Frequent capsular invasion is observed. Biopsy reveals multicentric tumours with multiple adenomatous nodules with or without oxyphilia and follicular or papillary carcinoma histology.	componente obsoleto (metadato fundacional)
A rare hereditary nonmedullary thyroid carcinoma characterized by the presence of differentiated thyroid cancer of follicular cell origin in two or more first-degree relatives, in the absence of other familial tumor syndromes or radiation exposure. Frequent capsular invasion is observed. Biopsy reveals multicentric tumors with multiple adenomatous nodules with or without oxyphilia and follicular or papillary carcinoma histology.	componente obsoleto (metadato fundacional)
A rare hereditary nonpolyposis colon cancer defined in individuals meeting the Amsterdam criteria for Lynch syndrome, but lacking germline mutations in the mismatch repair genes. It is characterised by a later onset, preferential involvement of distal colon and rectum, lower risk of developing extracolonic cancer, a higher adenoma/carcinoma ratio, a higher differentiation of tumour cells, a more heterogeneous tumour architecture and an infiltrative growth pattern when compared to Lynch syndrome cases.	componente obsoleto (metadato fundacional)
A rare hereditary nonpolyposis colon cancer defined in individuals meeting the Amsterdam criteria for Lynch syndrome, but lacking germline mutations in the mismatch repair genes. It is characterized by a later onset, preferential involvement of distal colon and rectum, lower risk of developing extracolonic cancer, a higher adenoma/carcinoma ratio, a higher differentiation of tumor cells, a more heterogeneous tumor architecture and an infiltrative growth pattern when compared to Lynch syndrome cases.	componente obsoleto (metadato fundacional)
A rare hereditary palmoplantar keratoderma with characteristics of focal hyperkeratotic lesions on the palms and soles. Histopathologic examination reveals prominent hyperkeratosis, thickened stratum spinosum with reduced stratum granulosum, dis-adhesion of cells in the suprabasal layers, elongation of rete ridges and sparse lymphocyte infiltration in the dermis.	componente obsoleto (metadato fundacional)
A rare hereditary periodic fever syndrome with characteristics of infantile or childhood onset of episodes of fever and cold-induced urticaria-like rash and arthralgia. Ocular features such as conjunctivitis and uveitis may also be present. Presentation is typically mild and symptoms resolve without treatment in most cases.	componente obsoleto (metadato fundacional)
A rare hereditary primary immunodeficiency characterised by recurrent respiratory tract infection, otitis media, candidiasis, diarrhoea, as well as various signs and symptoms of immune dysregulation (hypereosinophilia, eczema, vitiligo, alopecia areata, autoimmune haemolytic anaemia, pityriasis rubra pilaris). Failure to thrive, moderate lymphadenopathy and hepatomegaly have also been reported. There is evidence the disease is caused by homozygous mutation in the TRAC gene on chromosome 14q11.	componente obsoleto (metadato fundacional)
A rare hereditary primary immunodeficiency characterized by recurrent respiratory tract infection, otitis media, candidiasis, diarrhea, as well as various signs and symptoms of immune dysregulation (hypereosinophilia, eczema, vitiligo, alopecia areata, autoimmune hemolytic anemia, pityriasis rubra pilaris). Failure to thrive, moderate lymphadenopathy and hepatomegaly have also been reported. There is evidence the disease is caused by homozygous mutation in the TRAC gene on chromosome 14q11.	componente obsoleto (metadato fundacional)
A rare hereditary red cell membrane defect characterised by the presence of oval-shaped erythrocytes. Most patients are asymptomatic or occasionally have mild symptoms such as pallor, jaundice, anaemia and gallstones. The disease is common in Southeast Asian and Western Pacific countries and can occur at any age. Results from a 27 bp deletion in the SLC4A1 gene, localised on chromosome 17q21.31 (SLC4A1del27 mutation). This gene codes for a band 3 anion transport protein which is the bicarbonate/chloride exchanger in red blood cell membranes and defects in this protein cause membrane rigidity. The disease follows an autosomal dominant pattern of inheritance.	componente obsoleto (metadato fundacional)
A rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes. Most patients are asymptomatic or occasionally have mild symptoms such as pallor, jaundice, anemia and gallstones. The disease is common in Southeast Asian and Western Pacific countries and can occur at any age. Results from a 27 bp deletion in the SLC4A1 gene, localized on chromosome 17q21.31 (SLC4A1del27 mutation). This gene codes for a band 3 anion transport protein which is the bicarbonate/chloride exchanger in red blood cell membranes and defects in this protein cause membrane rigidity. The disease follows an autosomal dominant pattern of inheritance.	componente obsoleto (metadato fundacional)
A rare hereditary sensory and autonomic neuropathy characterised by congenital insensitivity to pain, general hypaesthesia, diminished temperature sensitivity and hyperhidrosis. Motor function is preserved. Skin biopsy reveals lack of cutaneous innervation except for sensory and autonomic innervation of blood vessels and sweat glands.	componente obsoleto (metadato fundacional)
A rare hereditary sensory and autonomic neuropathy characterised by hypotonia in infancy, variable psychomotor retardation, markedly impaired pain sensitivity with poor healing. Also, distal ulcerations and painless fractures leading to joint deformities and amputation of fingers and toes, altered deep tendon reflexes and dysautonomic symptoms including hypohidrosis and heat intolerance, chronic diarrhoea, pupillary abnormalities or urinary incontinence. Sensorineural hearing loss has also been reported. The severity of the disease is highly variable with severe cases being potentially lethal in infancy.	componente obsoleto (metadato fundacional)
A rare hereditary sensory and autonomic neuropathy characterized by congenital insensitivity to pain, general hypesthesia, diminished temperature sensitivity and hyperhidrosis. Motor function is preserved. Skin biopsy reveals lack of cutaneous innervation except for sensory and autonomic innervation of blood vessels and sweat glands.	componente obsoleto (metadato fundacional)
A rare hereditary sensory and autonomic neuropathy characterized by hypotonia in infancy, variable psychomotor retardation, markedly impaired pain sensitivity with poor healing. Also, distal ulcerations and painless fractures leading to joint deformities and amputation of fingers and toes, altered deep tendon reflexes and dysautonomic symptoms including hypohidrosis and heat intolerance, chronic diarrhea, pupillary abnormalities or urinary incontinence. Sensorineural hearing loss has also been reported. The severity of the disease is highly variable with severe cases being potentially lethal in infancy.	componente obsoleto (metadato fundacional)
A rare hereditary spastic ataxia disorder with childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated. Caused by homozygous mutation in the AFG3L2 gene on chromosome 18p11.	componente obsoleto (metadato fundacional)
A rare hereditary spastic paraplegia with characteristics of progressive spastic paraplegia with pyramidal signs in the lower limbs, decreased vibration sense, and increased reflexes in the upper limbs. Caused by heterozygous mutation in the HSPD1 on chromosome 2q33.	componente obsoleto (metadato fundacional)
A rare hereditary syndrome with characteristics of extreme microcephaly and growth restriction, severe motor delay, intellectual disability and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum and brainstem. Associated features are thin bones and scalp rugae.	componente obsoleto (metadato fundacional)
A rare hereditary syndromic intellectual disability characterised by cognitive impairment, behavioural and psychiatric problems, recurrent infections, atopic diseases and distinctive facial features in males. Females are clinically asymptomatic or mildly affected presenting mild learning difficulties and facial dysmorphism.	componente obsoleto (metadato fundacional)
A rare hereditary syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases and distinctive facial features in males. Females are clinically asymptomatic or mildly affected presenting mild learning difficulties and facial dysmorphism.	componente obsoleto (metadato fundacional)
A rare hereditary syndromic intellectual disability with characteristics of craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.	componente obsoleto (metadato fundacional)
A rare hereditary syndromic intellectual disability with characteristics of developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oro motor dysfunction, seizures and autism spectrum disorder. Dysmorphic facial features are variable and nonspecific. Caused by heterozygous mutation in the NR2F1 gene on chromosome 5q15.	componente obsoleto (metadato fundacional)
A rare heterogeneous group of metabolic disorders with abnormal calcium metabolism due to deficient secretion of parathormone (PTH) without other endocrine disorders or developmental defects. It can occur at any age (from the newborn period to adulthood) but generally starts within the first decade of life. The disease may be due to an activating mutation of the calcium-sensing receptor (CASR) gene. This is the most common genetic cause and is transmitted as an autosomal dominant trait. It represents 42% of isolated hypoparathyroidism cases. Thirteen mutations have been described in familial or sporadic cases. In three families, mutations in the PTH gene have been identified. One family has been reported with a mutation in the gene encoding the glial cells missing homolog b (GCMB) transcription factor.	componente obsoleto (metadato fundacional)
A rare highly aggressive poorly differentiated ovarian neoplasm, often associated with paraneoplastic hypercalcaemia. It is usually diagnosed in childhood or young adulthood at an advanced stage and presents with abdominal or pelvic mass or, rarely, symptoms related to hypercalcaemia. Occasional familial cases have been reported.	componente obsoleto (metadato fundacional)
A rare highly aggressive poorly differentiated ovarian neoplasm, often associated with paraneoplastic hypercalcemia. It is usually diagnosed in childhood or young adulthood at an advanced stage and presents with abdominal or pelvic mass or, rarely, symptoms related to hypercalcemia. Occasional familial cases have been reported.	componente obsoleto (metadato fundacional)
A rare highly aggressive uterine cancer, macroscopically appearing as an irregular, slow-growing, non-friable, polypoid mass on the uterine cervix and histologically showing a pseudoglandular or cribriform growth pattern. It presents with vaginal bleeding and discharge and abdominal or pelvic pain. The tumor is highly infiltrative, often associated with vascular, lymphatic and perineural invasion, with subsequent hematogenous spread and early recurrence.	componente obsoleto (metadato fundacional)
A rare highly aggressive uterine cancer, macroscopically appearing as an irregular, slow-growing, non-friable, polypoid mass on the uterine cervix and histologically showing a pseudoglandular or cribriform growth pattern. It presents with vaginal bleeding and discharge and abdominal or pelvic pain. The tumour is highly infiltrative, often associated with vascular, lymphatic and perineural invasion, with subsequent haematogenous spread and early recurrence.	componente obsoleto (metadato fundacional)
A rare highly malignant soft tissue sarcoma located in the uterine cervix and arising from primitive mesenchymal cells displaying skeletal muscle differentiation. It most often presents with abnormal vaginal discharge or dysfunctional uterine bleeding, abdominal pain and/or a cervical mass protruding into the vagina. Association with DICER1 syndrome has been reported.	componente obsoleto (metadato fundacional)
A rare hypereosinophilic syndrome with characteristics of hypereosinophilia produced by reactive/non-clonal eosinophils secondary to an underlying medical condition and persisting for at least six months. The disorder can derive from non-neoplastic conditions (such as chronic infections and infestations, allergic reactions, intoxications, or autoimmune and chronic inflammatory disorders) or from neoplasms including non-myeloid malignancies, among others. It is associated with signs of organ infiltration, dysfunction and damage. Clinical manifestations are highly variable depending on the organ systems involved, and most commonly include dermatologic, pulmonary, cardiac, gastrointestinal, and cerebral manifestations.	componente obsoleto (metadato fundacional)
A rare hyperkinetic movement disorder with characteristics of delayed motor development and infantile onset of axial hypotonia and a generalised hyperkinetic movement disorder, principally with dyskinesia of the limbs and trunk, and facial involvement including orolingual dyskinesia, drooling, and dysarthria. Variable hyperkinetic movements may include a jerky quality, intermittent chorea and ballismus. Brain imaging is normal and cognitive performance is typically preserved.	componente obsoleto (metadato fundacional)
A rare hyperkinetic movement disorder with characteristics of delayed motor development and infantile onset of axial hypotonia and a generalized hyperkinetic movement disorder, principally with dyskinesia of the limbs and trunk, and facial involvement including orolingual dyskinesia, drooling, and dysarthria. Variable hyperkinetic movements may include a jerky quality, intermittent chorea and ballismus. Brain imaging is normal and cognitive performance is typically preserved.	componente obsoleto (metadato fundacional)
A rare hyperkinetic movement disorder with characteristics of mild to severe, progressive essential tremor, nystagmus (principally horizontal), duodenal ulceration and a narcolepsy-like sleep disturbance. Refractive errors and cerebellar signs such as gait ataxia and adiadochokinesia may be associated. There have been no further descriptions in the literature since 1976.	componente obsoleto (metadato fundacional)
A rare hypomyelinating leucodystrophy disorder characterised by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leucodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms. Age of onset typically ranges from infancy to childhood but exceptionally may occur in late adolescence or early adulthood. Mutations of the genes encoding POLR3 (RNA polymerase III) subunits, POLR3A, POLR3B and POLR1C, have been identified. The disease is inherited in an autosomal recessive manner.	componente obsoleto (metadato fundacional)
A rare hypomyelinating leukodystrophy disorder characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms. Age of onset typically ranges from infancy to childhood but exceptionally may occur in late adolescence or early adulthood. Mutations of the genes encoding POLR3 (RNA polymerase III) subunits, POLR3A, POLR3B and POLR1C, have been identified. The disease is inherited in an autosomal recessive manner.	componente obsoleto (metadato fundacional)
A rare idiopathic glomerular clinical syndrome with characteristics of diffuse renal lesions that are indistinguishable from the lesions observed in systemic lupus erythematosus (SLE) in the absence of circulating autoantibodies and other systemic features necessary to meet the classification criteria for SLE. Patients may present with nephrotic syndrome, abnormal urinary sediment, acute renal insufficiency, progressive glomerulonephritis and hypertension. Some patients have been reported to develop a progression to SLE over time.	componente obsoleto (metadato fundacional)
A rare idiopathic inflammatory myopathy with a heterogeneous phenotype that has characteristics of myositis with at least one clinical and/or autoantibody overlap feature. Possible clinical overlap features include polyarthritis, Raynaud's phenomenon, sclerodactyly, scleroderma (proximal to metacarpophalangeal joints), lung interstitial pneumonia, and/or clinical signs of systemic lupus erythematosus (SLE). The disorder is more common in adult women and is frequently associated with other connective tissue disorders.	componente obsoleto (metadato fundacional)
A rare idiopathic interstitial pneumonia with characteristics of prominent subpleural and parenchymal fibroelastosis and pleural fibrosis, predominantly involving the upper lobes. Signs and symptoms include non-productive cough, dyspnea, and recurrent respiratory infections. Pneumothorax is a frequently reported complication. Pulmonary function test reveals a restrictive pattern and reduced diffusing capacity. Computed tomography shows pleural thickening with signs of fibrosis (traction bronchiectasis, architectural distortion and loss of volume) and reticulation.	componente obsoleto (metadato fundacional)
A rare idiopathic interstitial pneumonia with characteristics of prominent subpleural and parenchymal fibroelastosis and pleural fibrosis, predominantly involving the upper lobes. Signs and symptoms include non-productive cough, dyspnoea, and recurrent respiratory infections. Pneumothorax is a frequently reported complication. Pulmonary function test reveals a restrictive pattern and reduced diffusing capacity. Computed tomography shows pleural thickening with signs of fibrosis (traction bronchiectasis, architectural distortion and loss of volume) and reticulation.	componente obsoleto (metadato fundacional)
A rare idiopathic nephrotic syndrome characterised by paediatric onset of proteinuria, hypoalbuminaemia and oedema. Patients respond successfully to the initial standard course of corticosteroids, but are resistant to standard therapy for a subsequent relapse and following this relapse remain steroid-resistant.	componente obsoleto (metadato fundacional)
A rare idiopathic nephrotic syndrome characterised by the triad of proteinuria, hypoalbuminaemia and oedema in patients who do not respond, or only partially respond to the initial trial of corticosteroids. Patients may be multidrug resistant or may be sensitive to second-line immunosuppressive therapy. After exclusion of the genetic forms, steroid-resistant nephrotic syndrome may result from a circulating permeability factor its presence may result in a relapse of nephrotic syndrome after kidney transplantation. Steroid-resistant nephrotic syndrome can also be secondary to an infection (such as cytomegalovirus) or an underlying kidney disease (such as immunoglobulin A nephropathy).	componente obsoleto (metadato fundacional)
A rare idiopathic nephrotic syndrome characterized by pediatric onset of proteinuria, hypoalbuminemia and edema. Patients respond successfully to the initial standard course of corticosteroids, but are resistant to standard therapy for a subsequent relapse and following this relapse remain steroid-resistant.	componente obsoleto (metadato fundacional)
A rare idiopathic nephrotic syndrome characterized by the triad of proteinuria, hypoalbuminemia and edema in patients who do not respond, or only partially respond to the initial trial of corticosteroids. Patients may be multidrug resistant or may be sensitive to second-line immunosuppressive therapy. After exclusion of the genetic forms, steroid-resistant nephrotic syndrome may result from a circulating permeability factor its presence may result in a relapse of nephrotic syndrome after kidney transplantation. Steroid-resistant nephrotic syndrome can also be secondary to an infection (such as cytomegalovirus) or an underlying kidney disease (such as immunoglobulin A nephropathy).	componente obsoleto (metadato fundacional)
A rare idiopathic skin disease with characteristics of widespread, congenital, superficial erosions and vesicles (often involving more than 75% of the body) which heal leaving scars with a supple, symmetrical, reticulated pattern, frequently resulting in cicatricial alopecia and hyperthermia and/or hypohidrosis. Nail anomalies, neurodevelopmental and ophthalmologic abnormalities, tongue atrophy and preterm birth, with or without history of chorioamnionitis, are commonly associated.	componente obsoleto (metadato fundacional)
A rare immune dysregulation disease with immunodeficiency and characteristics of severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma.	componente obsoleto (metadato fundacional)
A rare immune dysregulation disease with immunodeficiency with characteristics of infantile or childhood onset of a variable phenotype including recurrent/persistent bacterial, fungal and viral infections with involvement of the skin, lower respiratory tract, gastrointestinal tract, eczema, allergies and inflammatory bowel disease. Epstein-Barr related smooth muscle neoplasms have also been reported. Immunophenotyping shows decreased Treg counts, as well as a deficient CD3/CD28 co-stimulation response in CD4+ and CD8+ T-cells.	componente obsoleto (metadato fundacional)
A rare inborn error of amino acid metabolism with characteristics of elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not detected early or left untreated, the disorder manifests with mild to severe mental disability. The most common form of the condition is known as classical phenylketonuria and has severe symptoms. A mild form has also been described (mild PKU), and an even milder form known as mild hyperphenylalaninaemia (mild HPA or non-PKU HPA). A subset of patients with milder phenotypes has been found to be responsive to tetrahydrobiopterin (BH4), the cofactor of phenylalanine hydroxylase (BH4-responsive HPA). The disease is caused by a wide range of variants in the PAH gene (12q22-q24.2) coding for phenylalanine hydroxylase. Transmission is autosomal recessive.	componente obsoleto (metadato fundacional)
A rare inborn error of amino acid metabolism with characteristics of elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not detected early or left untreated, the disorder manifests with mild to severe mental disability. The most common form of the condition is known as classical phenylketonuria and has severe symptoms. A mild form has also been described (mild PKU), and an even milder form known as mild hyperphenylalaninemia (mild HPA or non-PKU HPA). A subset of patients with milder phenotypes has been found to be responsive to tetrahydrobiopterin (BH4), the cofactor of phenylalanine hydroxylase (BH4-responsive HPA). The disease is caused by a wide range of variants in the PAH gene (12q22-q24.2) coding for phenylalanine hydroxylase. Transmission is autosomal recessive.	componente obsoleto (metadato fundacional)
A rare inborn error of metabolism characterised by cabbage-like breath odour with high levels of methanethiol and dimethylsulfide in oral and nasal breath due to methanethiol oxidase deficiency. Laboratory examination shows elevated levels of dimethylsulfide, dimethylsulfoxide and dimethylsulfone in blood, cerebrospinal fluid (CSF) and urine.	componente obsoleto (metadato fundacional)
A rare inborn error of metabolism characterised by congenital asplenia and childhood or adolescent onset of generalised inflammation, persistent intravascular haemolysis and anaemia, severe endothelial injury with abnormal coagulation, bleeding diathesis and nephropathy. Additional reported manifestations include growth retardation, mild facial dysmorphism and hepatomegaly.	componente obsoleto (metadato fundacional)
A rare inborn error of metabolism characterised by persistent hypermethioninaemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycaemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement. There is evidence the disease is caused by homozygous mutation in the ADK gene on chromosome 10q22.	componente obsoleto (metadato fundacional)
A rare inborn error of metabolism characterised by variable combinations of non-spherocytic haemolytic anemia, myopathy and various central nervous system abnormalities. The majority of patients present with chronic haemolytic anaemia, which may be severe in some cases. Myopathy is a common finding. Rhabdomyolysis has also been reported in a few patients. Intellectual deficit is frequent and other central nervous system manifestations may be also present. Caused by mutations in the PGK1 gene (Xq13.3) and around 20 different disease-causing variants have been identified so far in affected families. Inherited as an X-linked trait.	componente obsoleto (metadato fundacional)
A rare inborn error of metabolism characterized by cabbage-like breath odor with high levels of methanethiol and dimethylsulfide in oral and nasal breath due to methanethiol oxidase deficiency. Laboratory examination shows elevated levels of dimethylsulfide, dimethylsulfoxide and dimethylsulfone in blood, cerebrospinal fluid (CSF) and urine.	componente obsoleto (metadato fundacional)
A rare inborn error of metabolism characterized by congenital asplenia and childhood or adolescent onset of generalized inflammation, persistent intravascular hemolysis and anemia, severe endothelial injury with abnormal coagulation, bleeding diathesis and nephropathy. Additional reported manifestations include growth retardation, mild facial dysmorphism and hepatomegaly.	componente obsoleto (metadato fundacional)
A rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement. There is evidence the disease is caused by homozygous mutation in the ADK gene on chromosome 10q22.	componente obsoleto (metadato fundacional)
A rare inborn error of metabolism characterized by variable combinations of non-spherocytic hemolytic anemia, myopathy and various central nervous system abnormalities. The majority of patients present with chronic hemolytic anemia, which may be severe in some cases. Myopathy is a common finding. Rhabdomyolysis has also been reported in a few patients. Intellectual deficit is frequent and other central nervous system manifestations may be also present. Caused by mutations in the PGK1 gene (Xq13.3) and around 20 different disease-causing variants have been identified so far in affected families. Inherited as an X-linked trait.	componente obsoleto (metadato fundacional)
A rare inborn error of metabolism comprising 3-phosphoglycerate dehydrogenase deficiency, 3-phosphoserine phosphatase deficiency and phosphoserine aminotransferase deficiency. The disease has a phenotypic spectrum ranging from congenital microcephaly, psychomotor retardation and intractable seizures in the infantile forms to milder juvenile forms with moderate developmental delay and intellectual disability.	componente obsoleto (metadato fundacional)
A rare inborn error of metabolism disease with characteristics of mild to moderate persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms or the disease may also be asymptomatic.	componente obsoleto (metadato fundacional)
A rare inborn error of metabolism disorder with early-onset acute encephalopathic episodes (frequently triggered by viral infections) associated with lactic acidosis and alpha-ketoglutaric aciduria which typically manifest with variable degrees of ataxia, generalised developmental regression (which deteriorates with each episode) and dystonia. Other manifestations include spasticity, seizures, truncal hypotonia, limb hypertonia, brisk tendon reflexes and reversible coma. Caused by homozygous or compound heterozygous mutation in the TPK1 gene on chromosome 7q35.	componente obsoleto (metadato fundacional)
A rare inborn error of metabolism disorder with early-onset acute encephalopathic episodes (frequently triggered by viral infections) associated with lactic acidosis and alpha-ketoglutaric aciduria which typically manifest with variable degrees of ataxia, generalized developmental regression (which deteriorates with each episode) and dystonia. Other manifestations include spasticity, seizures, truncal hypotonia, limb hypertonia, brisk tendon reflexes and reversible coma. Caused by homozygous or compound heterozygous mutation in the TPK1 gene on chromosome 7q35.	componente obsoleto (metadato fundacional)
A rare inborn error of metabolism with characteristics of abnormal accumulation of plasma cystathionine and subsequent increased urinary excretion due to cystathionine gamma-lyase deficiency. The condition is considered benign without pathological relevance. Mode of inheritance is autosomal recessive.	componente obsoleto (metadato fundacional)
A rare inborn error of metabolism with characteristics of increased serum phenylalanine, associated with variable neurological symptoms ranging from mild autistic features or hyperactivity to severe intellectual disability, dystonia, and parkinsonism. Laboratory analyses show normal tetrahydrobiopterin (BH4) metabolism and low levels of the CSF monoamine neurotransmitter metabolites homovanillic acid and 5-hydroxyindoleacetic acid.	componente obsoleto (metadato fundacional)
A rare inborn error of metabolism with characteristics of massive accumulation of triglycerides in the myocardium and coronary arteries while plasma triglyceride levels are normal. Patients present in adulthood with signs and symptoms of coronary artery disease and severe heart failure. Concomitant skeletal myopathy is common. Vacuole formation in polymorphonuclear leukocytes is typically observed.	componente obsoleto (metadato fundacional)
A rare inborn error of metabolism with characteristics of severe neonatal encephalopathy with EEG abnormalities, increased serum lactate, little or no psychomotor development and sometimes death in infancy. Brain imaging may show cortical atrophy, enlarged ventricles, delayed myelination and white matter abnormalities among others.	componente obsoleto (metadato fundacional)
A rare inborn error of zinc metabolism characterised by recurrent infections, hepatosplenomegaly, anaemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (for example inflammation) and arthralgia. Severe epistaxis and spontaneous haematomas have also been reported.	componente obsoleto (metadato fundacional)
A rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (for example inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported.	componente obsoleto (metadato fundacional)
A rare indolent B-cell non-Hodgkin lymphoma characterised by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anaemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune haemolytic anaemia and autoimmune thrombocytopenia could be associated.	componente obsoleto (metadato fundacional)
A rare indolent B-cell non-Hodgkin lymphoma characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune hemolytic anemia and autoimmune thrombocytopenia could be associated.	componente obsoleto (metadato fundacional)
A rare indolent B-cell non-Hodgkin lymphoma with characteristics of abnormal proliferation of small monomorphous basophilic B-lymphocytes with villous cytoplasm in the splenic red pulp, bone marrow and peripheral blood. It typically presents in the late clinical stages with splenomegaly and moderate lymphocytosis. Cytopenia is rare and likely associated with hypersplenism.	componente obsoleto (metadato fundacional)
A rare indolent subtype of clear cell renal carcinoma arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis.	componente obsoleto (metadato fundacional)
A rare indolent subtype of clear cell renal carcinoma arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumour that typically does not metastasize. Clinically it can present with flank or abdominal pain or haematuria, although most patients are usually asymptomatic at the time of diagnosis.	componente obsoleto (metadato fundacional)
A rare infantile epilepsy syndrome characterised by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralising signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region.	componente obsoleto (metadato fundacional)
A rare infantile epilepsy syndrome characterised by complex partial seizures presenting with motion arrest, decreased responsiveness, staring, automatisms and mild clonic movements, with or without apnoea, normal interictal EEG and focal, mostly temporal discharges in ictal EEG. Most often, seizures occur in clusters and have a good response to treatment. Psychomotor development is normal.	componente obsoleto (metadato fundacional)
A rare infantile epilepsy syndrome characterised by seizures presenting with motion arrest and staring. They are followed by generalised tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by generalisation 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 characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region.	componente obsoleto (metadato fundacional)
A rare infantile epilepsy syndrome characterized by complex partial seizures presenting with motion arrest, decreased responsiveness, staring, automatisms and mild clonic movements, with or without apnea, normal interictal EEG and focal, mostly temporal discharges in ictal EEG. Most often, seizures occur in clusters and have a good response to treatment. Psychomotor development is normal.	componente obsoleto (metadato fundacional)
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)

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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)