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 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)
A rare malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. Cooks syndrome is congenital and presents with hypo/anonychia, small or absent distal phalanges and digitalisation of the thumbs. Usually, the nails of digits 1-3 are progressively deformed, with anonychia congenita totalis in the digits 4-5 and in all toes. Additional features include hypoplasia of the distal phalanges in digits 2-4 with absence of the distal phalanx of digit 5. In the feet, there is absence of all distal phalanges of digits 2-5 with hypoplasia of the distal phalanx of digit 1.	componente obsoleto (metadato fundacional)
A rare malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. Cooks syndrome is congenital and presents with hypo/anonychia, small or absent distal phalanges and digitalization of the thumbs. Usually, the nails of digits 1-3 are progressively deformed, with anonychia congenita totalis in the digits 4-5 and in all toes. Additional features include hypoplasia of the distal phalanges in digits 2-4 with absence of the distal phalanx of digit 5. In the feet, there is absence of all distal phalanges of digits 2-5 with hypoplasia of the distal phalanx of digit 1.	componente obsoleto (metadato fundacional)
A rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, with characteristics of VATER-like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect.	componente obsoleto (metadato fundacional)
A rare malformation with a soft, fluctuant mass, abscess or draining tract along the anterior border of the lower half of sternocleidomastoid muscle, occasionally leading to development of retropharyngeal abscess, acute suppurative thyroiditis, stridor, respiratory distress, odynophagia and dysphagia. Anomaly occurs as a tract from the piriform sinus to the thyroid gland. A fourth branchial cleft fistula passes deep to the superior laryngeal nerve but superficial to the recurrent laryngeal nerve, which is the main difference in comparison to the third branchial cleft fistula.	componente obsoleto (metadato fundacional)
A rare malformation with characteristics of a soft, fluctuant mass, abscess or draining tract along the anterior border of the lower half of sternocleidomastoid muscle, occasionally leading to development of retropharyngeal abscess, acute suppurative thyroiditis, stridor, respiratory distress, odynophagia and dysphagia. Anomaly occurs as a tract from the piriform sinus to the thyroid gland. A third branchial cleft fistula passes superficial to both the superior and recurrent laryngeal nerves, which is the main difference in comparison to the fourth branchial cleft fistula.	componente obsoleto (metadato fundacional)
A rare malignant epithelial neoplasm composed of undifferentiated epithelial cells with dense lymphoid stroma mimicking lymphoepithelioma. It often shows association with Epstein-Barr virus infection and can develop in various organs, such as the nasopharynx, stomach, skin, breast and lungs, among others. The presenting symptoms, as well as the radiologic features, are usually nonspecific and depend on the affected site and organ.	componente obsoleto (metadato fundacional)
A rare malignant germ cell tumor characterized by predominant composition of embryoid bodies consisting of a central core of embryonal carcinoma cells, an amnion-like cavity, and a yolk sac tumor component. The tumor usually occurs as the dominant component of a mixed germ cell tumor, with teratoma being the most common associated element. It may manifest as an abdominal mass or with abdominal pain, menstrual irregularities, or precocious puberty in women, while men typically present with testicular enlargement. Serum alpha-fetoprotein and/or beta-human chorionic gonadotropin can be elevated.	componente obsoleto (metadato fundacional)
A rare malignant germ cell tumor of ovary arising from germ cells in the ovary, frequently unilateral at diagnosis, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen, with certain subtypes being occasionally associated with isosexual precocity, virilization, hyperthyroidism or carcinoid syndrome. Histologically they comprise the following: embryonal carcinoma, yolk sac tumor, polyembryoma and mixed germ cell tumor.	componente obsoleto (metadato fundacional)
A rare malignant germ cell tumor that occur in the midline of the body as a result of abnormal germ cell migration during embryogenesis. Clinical manifestations are variable and depend on the location and size of the tumor. Central nervous system tumor might present with headache, visual disturbances, endocrine abnormalities, and signs of increased intracranial pressure. A mediastinal tumor commonly presents with chest pain, dyspnea, cough and fever. Abdominal mass with or without pain, backache and weight loss are common clinical presentations in retroperitoneal tumor.	componente obsoleto (metadato fundacional)
A rare malignant germ cell tumour characterised by predominant composition of embryoid bodies consisting of a central core of embryonal carcinoma cells, an amnion-like cavity, and a yolk sac tumour component. The tumour usually occurs as the dominant component of a mixed germ cell tumour, with teratoma being the most common associated element. It may manifest as an abdominal mass or with abdominal pain, menstrual irregularities, or precocious puberty in women, while men typically present with testicular enlargement. Serum alpha-fetoprotein and/or beta-human chorionic gonadotropin can be elevated.	componente obsoleto (metadato fundacional)
A rare malignant germ cell tumour of ovary arising from germ cells in the ovary, frequently unilateral at diagnosis, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen, with certain subtypes being occasionally associated with isosexual precocity, virilisation, hyperthyroidism or carcinoid syndrome. Histologically they comprise the following: embryonal carcinoma, yolk sac tumour, polyembryoma and mixed germ cell tumour.	componente obsoleto (metadato fundacional)
A rare malignant germ cell tumour that occur in the midline of the body as a result of abnormal germ cell migration during embryogenesis. Clinical manifestations are variable and depend on the location and size of the tumour. Central nervous system tumour might present with headache, visual disturbances, endocrine abnormalities, and signs of increased intracranial pressure. A mediastinal tumour commonly presents with chest pain, dyspnoea, cough and fever. Abdominal mass with or without pain, backache and weight loss are common clinical presentations in retroperitoneal tumour.	componente obsoleto (metadato fundacional)
A rare malignant haematologic disease characterised by clonal proliferation of myeloid blasts, primarily involving the bone marrow, in association with congenital disorders (e.g. Fanconi anemia, dyskeratosis congenita, Bloom syndrome, Down syndrome, congenital neutropenia, neurofibromatosis) and genetic defects predisposing to acute myeloid leukaemia. Patients present with signs and symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Depending on the underlying genetic defect, there may be additional cancer risks and other health problems present.	componente obsoleto (metadato fundacional)
A rare malignant hematologic disease characterized by clonal proliferation of myeloid blasts, primarily involving the bone marrow, in association with congenital disorders (e.g. Fanconi anemia, dyskeratosis congenita, Bloom syndrome, Down syndrome, congenital neutropenia, neurofibromatosis) and genetic defects predisposing to acute myeloid leukemia. Patients present with signs and symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Depending on the underlying genetic defect, there may be additional cancer risks and other health problems present.	componente obsoleto (metadato fundacional)
A rare malignant mesenchymal tumor of smooth muscle origin characterized histologically by spindle and/or pleomorphic cells, often forming disorganized fascicles, with tumor cell necrosis. Macroscopic characteristics are a large soft usually intramural mass with irregular borders and necrotic and hemorrhagic areas located in the uterus. Presenting signs and symptoms typically include dysfunctional vaginal bleeding, vaginal discharge, palpable pelvic mass and/or pelvic pain/pressure. Changes in bowel habits, frequent or painful urination and hematuria may also be associated.	componente obsoleto (metadato fundacional)
A rare malignant mesenchymal tumor of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastasize hematogenously, especially to the lungs, peritoneum, bones and the liver.	componente obsoleto (metadato fundacional)
A rare malignant mesenchymal tumour of smooth muscle origin characterised histologically by spindle and/or pleomorphic cells, often forming disorganised fascicles, with tumour cell necrosis. Macroscopic characteristics are a large soft usually intramural mass with irregular borders and necrotic and haemorrhagic areas located in the uterus. Presenting signs and symptoms typically include dysfunctional vaginal bleeding, vaginal discharge, palpable pelvic mass and/or pelvic pain/pressure. Changes in bowel habits, frequent or painful urination and haematuria may also be associated.	componente obsoleto (metadato fundacional)
A rare malignant mesenchymal tumour of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastasise haematogenously, especially to the lungs, peritoneum, bones and the liver.	componente obsoleto (metadato fundacional)
A rare malignant mixed epithelial and mesenchymal tumor of the uterine body composed of high-grade carcinomatous and sarcomatous elements. It may present with vaginal bleeding, abnormal vaginal discharge, abdominal pain and/or pelvic mass, with a polypoid tumor sometimes protruding through the cervical canal. Association with Tamoxifen therapy, long-term unopposed estrogen use and previous pelvic radiotherapy has been reported.	componente obsoleto (metadato fundacional)
A rare malignant mixed epithelial and mesenchymal tumour of the uterine body composed of high-grade carcinomatous and sarcomatous elements. It may present with vaginal bleeding, abnormal vaginal discharge, abdominal pain and/or pelvic mass, with a polypoid tumour sometimes protruding through the cervical canal. Association with Tamoxifen therapy, long-term unopposed oestrogen use and previous pelvic radiotherapy has been reported.	componente obsoleto (metadato fundacional)
A rare malignant neoplasm arising from embryonic remnants of the notochord in axial skeleton. The neoplasm is predominantly found in adults. The clinical presentation depends entirely on the location of the chordoma. The main possible locations are the sacrum, intracranially at the clivus and along the spinal axis. Chordoma has characteristics of slow growth, with local destruction of the bone and extension into the adjacent soft tissue.	componente obsoleto (metadato fundacional)
A rare malignant neoplastic disease characterised by clonal proliferation of myeloid and/or lymphoid precursors harbouring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin). It usually presents as chronic eosinophilic leukaemia or, less commonly, as acute myeloid leukaemia or T-lymphoblastic leukaemia with eosinophilia. Patients usually present with eosinophilia, anaemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy.	componente obsoleto (metadato fundacional)
A rare malignant neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy.	componente obsoleto (metadato fundacional)
A rare malignant primary thymic neoplasm originating from neuroendocrine cells presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath or in some cases superior vena cava syndrome. Patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid syndrome respectively.	concepto inactivo (metadato fundacional)
A rare malignant sex cord stromal tumor of ovary occurring typically in young women and characterized by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) when functional.	componente obsoleto (metadato fundacional)
A rare malignant sex cord stromal tumor of ovary of unknown histological lineage, occurring in adult women, characterized, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) and occasionally Cushing syndrome.	componente obsoleto (metadato fundacional)
A rare malignant sex cord stromal tumour of ovary occurring typically in young women and characterised by manifestations of androgen excess (hirsutism, hair loss, amenorrhoea, or oligomenorrhoea) when functional.	componente obsoleto (metadato fundacional)
A rare malignant sex cord stromal tumour of ovary of unknown histological lineage, occurring in adult women, characterised, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhoea, or oligomenorrhoea) and occasionally Cushing syndrome.	componente obsoleto (metadato fundacional)
A rare malignant tumor of the peritoneal cavity of extra-ovarian origin. Clinically and histologically similar to advanced-stage serous ovarian carcinoma. It is almost exclusively found in women. Can occur many years after oophorectomy performed for benign diseases or prophylactic oophorectomy. The tumor develops in the peritoneum and spreads to the abdomen, pelvis and ovaries.Primary peritoneal carcinoma has an epithelial origin and probably derives from embryonal epithelium. The fallopian tubes are suspected as the primary site.	componente obsoleto (metadato fundacional)
A rare malignant tumour of the peritoneal cavity of extra-ovarian origin. Clinically and histologically similar to advanced-stage serous ovarian carcinoma. It is almost exclusively found in women. Can occur many years after oophorectomy performed for benign diseases or prophylactic oophorectomy. The tumour develops in the peritoneum and spreads to the abdomen, pelvis and ovaries. Primary peritoneal carcinoma has an epithelial origin and probably derives from embryonal epithelium. The fallopian tubes are suspected as the primary site.	componente obsoleto (metadato fundacional)
A rare malignant type of ependymoma that most often arises in the supratentorial region of the brain of children and young adults and that manifests with variable symptoms including headaches, nausea, vision impairment, memory loss and difficulty walking.	componente obsoleto (metadato fundacional)
A rare malignant, epithelial ovarian neoplasm, composed of clear, eosinophilic and hobnail cells displaying variable degrees of tubulocystic, papillary and solid histological patterns, macroscopically appearing as a typically unilateral mass in the ovary which ranges from solid to cystic. Patients are often diagnosed in early stages and usually present with pelvic pain and pressure, an abdominal mass and/or gastrointestinal problems, such as early satiety or bloating. Association with Lynch syndrome has been reported.	componente obsoleto (metadato fundacional)
A rare malignant, mixed epithelial and mesenchymal tumor, located in the cervix uteri, composed of a mixture of carcinomatous and sarcomatous elements. It usually presents with abnormal vaginal bleeding and a round, well-defined, gray to yellowish-white, pedunculated polypoid mass protruding through the cervical canal. Association with human papillomavirus infection (especially serotype 16) has been frequently reported.	componente obsoleto (metadato fundacional)
A rare malignant, mixed epithelial and mesenchymal tumour, located in the cervix uteri, composed of a mixture of carcinomatous and sarcomatous elements. It usually presents with abnormal vaginal bleeding and a round, well-defined, grey to yellowish-white, pedunculated polypoid mass protruding through the cervical canal. Association with human papillomavirus infection (especially serotype 16) has been frequently reported.	componente obsoleto (metadato fundacional)
A rare mandibulofacial dysostosis with the association with scalp alopecia and sparse eyebrows and eyelashes. Craniofacial dysmorphic features include zygomatic and mandibular dysplasia or hypoplasia, cleft palate, micrognathia, dental anomalies, auricular dysmorphism and eyelid anomalies among others. Patients may experience limited jaw mobility, glossoptosis, upper airway obstruction and conductive hearing loss.	componente obsoleto (metadato fundacional)
A rare maternal disease-related embryofetopathy with characteristics of variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, encephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (for example bifid uvula, preauricular pit or tag). Consensus regarding cause and effect relationship has not been reached.	componente obsoleto (metadato fundacional)
A rare maxillofacial disorder with characteristics of significant reduction in mouth opening in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported.	componente obsoleto (metadato fundacional)
A rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of cerebrospinal fluid circulation (for example due to basal arachnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (for example due to trauma, radiation necrosis, spinal abscess), spinal dysraphism or intramedullary neoplasm. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings.	componente obsoleto (metadato fundacional)
A rare metabolic myopathy with characteristics of episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997.	componente obsoleto (metadato fundacional)
A rare metabolic myopathy with characteristics of muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria and elevation of serum creatine kinase. Caused by mutation in the SLC16A1 gene.	componente obsoleto (metadato fundacional)
A rare metabolite absorption and transport disorder with characteristics of moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however; screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported. Caused by mutation in the gene encoding the transcobalamin receptor (CD320).	componente obsoleto (metadato fundacional)
A rare microdeletion syndrome associated with a distinct facial appearance. It has been reported in four unrelated patients. A mask-like facial appearance is the most characteristic feature with blepharophimosis, tight appearing glistening facial skin, flat and broad nose, dysplastic ears and unusual scalp hair pattern. Camptodactyly, joint contractures, unusual dentition and mild developmental delay can be observed. Cryptorchidism in boys and a happy disposition are constant.	componente obsoleto (metadato fundacional)
A rare midline cerebral malformation disorder with characteristics of duplicated pituitary stalks and/or glands within duplicated sella. Patients may present various degrees of facial dysmorphism and endocrine abnormalities, including precocious puberty, hypogonadism, hypothyroidism and/or hyperprolactinaemia, as well as associated congenital anomalies such as cleft lip/palate, bifid nasal bridge/tongue/uvula, hypothalamic enlargement with or without hamartoma, nasopharyngeal tumours, corpus callosum agenesis/hypoplasia, basilar artery duplication, and/or vertebral defects (in particular duplication of the odontoid process).	componente obsoleto (metadato fundacional)
A rare midline cerebral malformation disorder with characteristics of duplicated pituitary stalks and/or glands within duplicated sella. Patients may present various degrees of facial dysmorphism and endocrine abnormalities, including precocious puberty, hypogonadism, hypothyroidism and/or hyperprolactinemia, as well as associated congenital anomalies such as cleft lip/palate, bifid nasal bridge/tongue/uvula, hypothalamic enlargement with or without hamartoma, nasopharyngeal tumors, corpus callosum agenesis/hypoplasia, basilar artery duplication, and/or vertebral defects (in particular duplication of the odontoid process).	componente obsoleto (metadato fundacional)
A rare mild form of galactosaemia characterised by early onset of cataract and an absence of the usual signs of classic galactosaemia, i.e. feeding difficulties, poor weight gain and growth, lethargy and jaundice. Patients generally have elevated plasma galactose and increased urinary excretion of galactitol. They develop cataracts during the first weeks or months of life as a result of accumulation of galactitol in the lens. Patients are otherwise healthy. Caused by mutations in the GALK1 gene (17q24) coding for the galactokinase enzyme. The disorder is inherited in an autosomal recessive manner.	componente obsoleto (metadato fundacional)
A rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy and jaundice. Patients generally have elevated plasma galactose and increased urinary excretion of galactitol. They develop cataracts during the first weeks or months of life as a result of accumulation of galactitol in the lens. Patients are otherwise healthy. Caused by mutations in the GALK1 gene (17q24) coding for the galactokinase enzyme. The disorder is inherited in an autosomal recessive manner.	componente obsoleto (metadato fundacional)
A rare mitochondrial DNA depletion syndrome with characteristics of congenital or early-onset lactic acidosis, hypotonia and severe global developmental delay with feeding difficulties and failure to thrive. It is frequently associated with variable dysmorphic facial features. Additional manifestations include seizures, movement disorders and cardiac and ophthalmologic anomalies, among others. Brain imaging may show generalised atrophy and white matter abnormalities.	componente obsoleto (metadato fundacional)
A rare mitochondrial DNA depletion syndrome with characteristics of congenital or early-onset lactic acidosis, hypotonia and severe global developmental delay with feeding difficulties and failure to thrive. It is frequently associated with variable dysmorphic facial features. Additional manifestations include seizures, movement disorders and cardiac and ophthalmologic anomalies, among others. Brain imaging may show generalized atrophy and white matter abnormalities.	componente obsoleto (metadato fundacional)
A rare mitochondrial DNA depletion syndrome with characteristics of neonatal or infantile onset of global developmental delay, hypotonia, failure to thrive, progressive neurologic decline, sensorineural deafness and movement disorder. Seizures, external ophthalmoplegia, polyneuropathy, cardiomyopathy, and renal tubular dysfunction have also been reported. Brain imaging may show T2-weighted hyperintensities in the basal ganglia and laboratory examination may reveal lactic acidosis and mild methylmalonic aciduria.	componente obsoleto (metadato fundacional)
A rare mitochondrial DNA maintenance syndrome with characteristics of early-onset cerebellar ataxia and a variable combination of epilepsy, headache, dysarthria, ophthalmoplegia, peripheral neuropathy, intellectual disability, psychiatric symptoms and movement disorders.	componente obsoleto (metadato fundacional)
A rare mitochondrial disease characterised by a variable phenotype of congenital sensorineural deafness, intermittent or persistent hypoglycaemia and hepatic and renal dysfunction potentially progressing to organ failure. Serum lactate levels are variably increased, deficiency of mitochondrial respiratory chain complexes I, III, and IV is observed in the liver and in fibroblasts.	componente obsoleto (metadato fundacional)
A rare mitochondrial disease characterised by axial hypotonia with limb hypertonia, developmental delay, hyperlactataemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiencies of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.	componente obsoleto (metadato fundacional)
A rare mitochondrial disease characterised by early infantile onset of progressive neurological deterioration with seizures, spasticity and lack of psychomotor development. Brain imaging shows severe leucodystrophy and abnormalities of neuronal migration. Lactic acidosis is common. The disease is usually fatal in early childhood.	componente obsoleto (metadato fundacional)
A rare mitochondrial disease characterised by infantile onset of severe regression after a period of normal development, epileptic encephalopathy, hypotonia, movement disorder, cardiomyopathy, hyperglycinaemia and lactic acidosis. Optic atrophy may also be present. Brain imaging findings are highly variable and include white matter abnormalities. The disease is typically fatal in infancy. Caused by homozygous mutation in the BOLA3 gene on chromosome 2p13.	componente obsoleto (metadato fundacional)
A rare mitochondrial disease characterised by prenatal complications including oligohydramnios, fetal growth restriction, hydrops, and anaemia. This is followed by severe lactic acidosis, hyaline membrane disease, pulmonary hypertension, cardiac anomalies, liver dysfunction, urogenital abnormalities and progressive renal disease, seizures, thrombocytopenia, and sideroblastic anaemia resulting in multisystem organ failure and death shortly after birth. Less severely affected patients that survive the neonatal period have been reported to have sensorineural hearing loss and developmental delay.	componente obsoleto (metadato fundacional)
A rare mitochondrial disease characterized by a variable phenotype of congenital sensorineural deafness, intermittent or persistent hypoglycemia and hepatic and renal dysfunction potentially progressing to organ failure. Serum lactate levels are variably increased, deficiency of mitochondrial respiratory chain complexes I, III, and IV is observed in the liver and in fibroblasts.	componente obsoleto (metadato fundacional)
A rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiencies of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.	componente obsoleto (metadato fundacional)
A rare mitochondrial disease characterized by early infantile onset of progressive neurological deterioration with seizures, spasticity and lack of psychomotor development. Brain imaging shows severe leukodystrophy and abnormalities of neuronal migration. Lactic acidosis is common. The disease is usually fatal in early childhood.	componente obsoleto (metadato fundacional)
A rare mitochondrial disease characterized by infantile onset of severe regression after a period of normal development, epileptic encephalopathy, hypotonia, movement disorder, cardiomyopathy, hyperglycinemia and lactic acidosis. Optic atrophy may also be present. Brain imaging findings are highly variable and include white matter abnormalities. The disease is typically fatal in infancy. Caused by homozygous mutation in the BOLA3 gene on chromosome 2p13.	componente obsoleto (metadato fundacional)
A rare mitochondrial disease characterized by prenatal complications including oligohydramnios, fetal growth restriction, hydrops, and anemia. This is followed by severe lactic acidosis, hyaline membrane disease, pulmonary hypertension, cardiac anomalies, liver dysfunction, urogenital abnormalities and progressive renal disease, seizures, thrombocytopenia, and sideroblastic anemia resulting in multisystem organ failure and death shortly after birth. Less severely affected patients that survive the neonatal period have been reported to have sensorineural hearing loss and developmental delay.	componente obsoleto (metadato fundacional)
A rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound.	componente obsoleto (metadato fundacional)
A rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterised by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnoea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V. Caused by compound heterozygous mutation in the MRPL3 gene on chromosome 3q22.	componente obsoleto (metadato fundacional)
A rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V. Caused by compound heterozygous mutation in the MRPL3 gene on chromosome 3q22.	componente obsoleto (metadato fundacional)
A rare mitochondrial disease due to a defect in mitochondrial protein synthesis with a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.	componente obsoleto (metadato fundacional)
A rare mitochondrial disease due to a defect in mitochondrial protein synthesis with characteristics of neonatal or infancy-onset of seizures that are refractory to treatment, delayed or absent psychomotor development and lactic acidosis. Additional manifestations reported include poor feeding, failure to thrive, microcephaly, hypotonia, anaemia and thrombocytopenia. Caused by homozygous or compound heterozygous mutation in the FARS2 gene on chromosome 6p25.	componente obsoleto (metadato fundacional)
A rare mitochondrial disease due to a defect in mitochondrial protein synthesis with characteristics of neonatal or infancy-onset of seizures that are refractory to treatment, delayed or absent psychomotor development and lactic acidosis. Additional manifestations reported include poor feeding, failure to thrive, microcephaly, hypotonia, anemia and thrombocytopenia. Caused by homozygous or compound heterozygous mutation in the FARS2 gene on chromosome 6p25.	componente obsoleto (metadato fundacional)
A rare mitochondrial disease due to a defect in mitochondrial protein synthesis with characteristics of normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesia) and reduced tendon reflexes. The disease course is severe but nonprogressive.	componente obsoleto (metadato fundacional)
A rare mitochondrial disease due to a defect in mitochondrial protein synthesis with onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported. Caused by homozygous or compound heterozygous mutation in the MTFMT gene on chromosome 15q22.	componente obsoleto (metadato fundacional)
A rare mitochondrial disease with characteristics of a distinctive MRI pattern of cavitating leucodystrophy, predominantly in the posterior region of the cerebral hemispheres. The clinical picture varies widely between acute neurometabolic decompensation in infancy with loss of developmental milestones, seizures and pyramidal signs rapidly evolving into spastic tetraparesis, to subtle neurological symptoms presenting in adolescence. The disease course tends to stabilise over time in most patients and marked recovery of milestones may be observed.	componente obsoleto (metadato fundacional)
A rare mitochondrial disease with characteristics of a distinctive MRI pattern of cavitating leukodystrophy, predominantly in the posterior region of the cerebral hemispheres. The clinical picture varies widely between acute neurometabolic decompensation in infancy with loss of developmental milestones, seizures and pyramidal signs rapidly evolving into spastic tetraparesis, to subtle neurological symptoms presenting in adolescence. The disease course tends to stabilize over time in most patients and marked recovery of milestones may be observed.	componente obsoleto (metadato fundacional)
A rare mitochondrial disease with characteristics of a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging.	componente obsoleto (metadato fundacional)
A rare mitochondrial disease with characteristics of a variable clinical phenotype ranging from fetal hydrops and postnatal hypotonia, bradycardia and respiratory failure, resulting in death in the neonatal period, to infantile onset of episodes of acute cardiopulmonary failure associated with severe lactic acidosis and slowly progressive muscle weakness. Muscle biopsy shows reduced activity of mitochondrial complexes I, III, and IV.	componente obsoleto (metadato fundacional)
A rare mitochondrial disease with characteristics of a variable clinical phenotype with the core features of optic atrophy, ataxia and hypotonia. Additional common manifestations include global developmental delay with or without regression, neuropathy, spasticity, and microcephaly, less frequently seizures, movement disorder, hearing loss and respiratory failure. Brain imaging may show abnormalities of the corpus callosum, basal ganglia and midbrain, cerebral or cerebellar atrophy, or white matter abnormalities. The condition is frequently fatal at an early age.	componente obsoleto (metadato fundacional)
A rare mitochondrial disease with characteristics of a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy among others. Age of onset and disease severity is also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy and white matter abnormalities.	componente obsoleto (metadato fundacional)
A rare mitochondrial disease with characteristics of adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.	componente obsoleto (metadato fundacional)
A rare mitochondrial disease with characteristics of bilateral auditory neuropathy and optic atrophy. Patients present hearing and visual impairment in the first or second decade of life, while psychomotor development is normal. Bilateral retinitis pigmentosa has been reported in association.	componente obsoleto (metadato fundacional)
A rare mitochondrial disease with characteristics of early onset of hypertrophic cardiomyopathy and variable neurologic symptoms including global developmental delay, hypotonia, intellectual disability, visual impairment and seizures. Lactic acidosis is present in all patients. Muscle biopsy usually shows decreased activity of mitochondrial complexes I and IV. Brain imaging may reveal variable abnormal signal intensities in the thalamus, basal ganglia, and/or brain stem.	componente obsoleto (metadato fundacional)
A rare mitochondrial disease with characteristics of exclusive skeletal muscle involvement without clinical evidence of other organ involvement. Disease manifestations are progressive limb weakness, proximal limb muscle atrophy and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia and diminished deep tendon reflexes.	componente obsoleto (metadato fundacional)
A rare mitochondrial disease with characteristics of failure to thrive, infantile encephalopathy, muscular hypotonia, global developmental delay and regression, pulmonary arterial hypertension, episodes of apnea and bradycardia, respiratory failure, hyperglycinemia and lactic acidosis. Hypertrophic or dilated cardiomyopathy has also been reported. Brain imaging may show leukoencephalopathy involving variable regions. The disease is typically fatal in early infancy. Caused by homozygous or compound heterozygous mutation in the NFU1 gene on chromosome 2p13.	componente obsoleto (metadato fundacional)
A rare mitochondrial disease with characteristics of failure to thrive, infantile encephalopathy, muscular hypotonia, global developmental delay and regression, pulmonary arterial hypertension, episodes of apnoea and bradycardia, respiratory failure, hyperglycinaemia and lactic acidosis. Hypertrophic or dilated cardiomyopathy has also been reported. Brain imaging may show leucoencephalopathy involving variable regions. The disease is typically fatal in early infancy. Caused by homozygous or compound heterozygous mutation in the NFU1 gene on chromosome 2p13.	componente obsoleto (metadato fundacional)
A rare mitochondrial disease with characteristics of neonatal onset of severe cardiac and/or neurologic signs and symptoms mostly associated with a fatal outcome in the neonatal period or in infancy, although a milder phenotype with later onset and slowly progressive neurologic deterioration has also been reported. Clinical manifestations are variable and include respiratory insufficiency, hypotonia, cardiomyopathy and seizures. Serum lactate is elevated in most cases. Brain imaging may show cerebellar atrophy or hypoplasia.	componente obsoleto (metadato fundacional)
A rare mitochondrial disease with characteristics of onset of episodic developmental regression in the first year of life, often in the setting of febrile illnesses, as well as hypotonia and seizures or refractory epileptic encephalopathy. Other observed features include ataxia, dystonia or optic atrophy among others. Patients do not achieve independent ambulation or meaningful speech. Brain imaging may show progressive cerebellar or diffuse atrophy and signal abnormalities of the basal ganglia. Serum lactate is often elevated.	componente obsoleto (metadato fundacional)
A rare mitochondrial disease with characteristics of prenatal or early infantile onset of severe cardiomyopathy, failure to thrive and global developmental delay, sensorineural hearing loss and severe lactic acidosis. Hepatic involvement and adrenal insufficiency, as well as encephalopathy and anomalies of deep gray matter structures on brain MRI have also been reported.	componente obsoleto (metadato fundacional)
A rare mitochondrial disease with characteristics of prenatal or early infantile onset of severe cardiomyopathy, failure to thrive and global developmental delay, sensorineural hearing loss and severe lactic acidosis. Hepatic involvement and adrenal insufficiency, as well as encephalopathy and anomalies of deep grey matter structures on brain MRI have also been reported.	componente obsoleto (metadato fundacional)
A rare mitochondrial disease with marked clinical variability typically and characteristics of encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.	componente obsoleto (metadato fundacional)
A rare mitochondrial disease with signs and symptoms within a phenotypic and metabolic spectrum that includes global developmental delay, hypotonia, intellectual disability, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy, lactic acidosis, and increased excretion of Krebs cycle intermediates. Other variable features are spasticity, seizures, ataxia, congenital cataract, and dysmorphic facial features. Age of onset is in the neonatal period or infancy.	componente obsoleto (metadato fundacional)
A rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterised by severe intrauterine growth retardation, neonatal limb oedema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.	componente obsoleto (metadato fundacional)
A rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.	componente obsoleto (metadato fundacional)
A rare mitochondrial disorder due to a defect in mitochondrial protein synthesis with characteristics of neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.	componente obsoleto (metadato fundacional)
A rare mitochondrial myopathy with characteristics of motor developmental delay (in infancy), growth impairment and mostly proximal muscle weakness caused by a muscular dystrophy. Muscle biopsy presents myopathic abnormalities and decreased mitochondrial deoxyribonucleic acid (mtDNA) content. Electromyography (EMG) shows a myopathic process and serum creatine kinase is increased. The disease also has characteristics of early onset non-progressive cerebellar atrophy (particularly cerebellar vermis and hemispheres), corticospinal tract dysfunction, and global or partial cerebral atrophy on brain MRI. Additionally, some patients presented with cognitive deficiencies, skeletal abnormalities, tremors and retinopathy. Caused by biallelic mutations in the MSTO1 gene located on chromosome 1q22 with autosomal recessive inheritance. In a very few cases, the pattern of inheritance is autosomal dominant.	componente obsoleto (metadato fundacional)
A rare mitochondrial oxidative phosphorylation disorder characterised by a highly variable phenotype which may present as exercise intolerance with prominent exertional dyspnoea, progressive muscle weakness, spasticity and neuropathy, but without cognitive impairment or cardiac involvement, or as global developmental delay, growth retardation, hypotonia and spasticity. Hypertrophic cardiomyopathy, optic atrophy, seizures and dysmorphic facial features have also been reported in the more severe phenotype. Serum lactate may be elevated and muscle biopsy shows myopathic features and variably decreased activity of mitochondrial respiratory chain complexes.	componente obsoleto (metadato fundacional)
A rare mitochondrial oxidative phosphorylation disorder characterised by progressive generalised hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which result in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.	componente obsoleto (metadato fundacional)
A rare mitochondrial oxidative phosphorylation disorder characterized by a highly variable phenotype which may present as exercise intolerance with prominent exertional dyspnea, progressive muscle weakness, spasticity and neuropathy, but without cognitive impairment or cardiac involvement, or as global developmental delay, growth retardation, hypotonia and spasticity. Hypertrophic cardiomyopathy, optic atrophy, seizures and dysmorphic facial features have also been reported in the more severe phenotype. Serum lactate may be elevated and muscle biopsy shows myopathic features and variably decreased activity of mitochondrial respiratory chain complexes.	componente obsoleto (metadato fundacional)
A rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which result in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.	componente obsoleto (metadato fundacional)
A rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterised by onset of slowly progressive proximal lower limb weakness and exercise intolerance in the first decade of life, followed by weakness of neck flexor, shoulder and distal leg muscles. Facial muscles become involved still later in the disease course. Additional manifestations are restrictive pulmonary function and short stature. Laboratory studies reveal lactic acidaemia and increased serum creatine kinase.	componente obsoleto (metadato fundacional)
A rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by onset of slowly progressive proximal lower limb weakness and exercise intolerance in the first decade of life, followed by weakness of neck flexor, shoulder and distal leg muscles. Facial muscles become involved still later in the disease course. Additional manifestations are restrictive pulmonary function and short stature. Laboratory studies reveal lactic acidemia and increased serum creatine kinase.	componente obsoleto (metadato fundacional)
A rare mitochondrial oxidative phosphorylation disorder due to nuclear deoxyribonucleic acid anomalies. The disease is characterised by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalised muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.	componente obsoleto (metadato fundacional)
A rare mitochondrial oxidative phosphorylation disorder due to nuclear deoxyribonucleic acid anomalies. The disease is characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.	componente obsoleto (metadato fundacional)
A rare mitochondrial oxidative phosphorylation disorder with a variable clinical phenotype. Manifestations include infantile onset of epileptic encephalopathy, hypotonia, global developmental delay, failure to thrive, complex movement disorder and liver involvement along with childhood onset of severe myoclonus epilepsy, cognitive decline, progressive hearing and visual impairment and progressive tetraparesis. Serum lactate may be increased and brain imaging shows variable atrophy and white matter abnormalities.	componente obsoleto (metadato fundacional)
A rare mitochondrial oxidative phosphorylation disorder with a variable phenotype, including developmental delay with psychomotor regression, intellectual disability, epilepsy, Leigh syndrome, non-syndromic hearing loss, visual impairment and severe myopathy. Decreased activity of mitochondrial respiratory complexes and lactic acidosis are common findings and diffuse cerebral atrophy may be associated.	componente obsoleto (metadato fundacional)

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