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Nervous System Diseases > Neurocutaneous Syndromes > Tuberous Sclerosis
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Ectodermal Dysplasia > Neurocutaneous Syndromes > Tuberous Sclerosis
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Ectodermal Dysplasia > Neurocutaneous Syndromes > Tuberous Sclerosis
... > Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Ectodermal Dysplasia > Neurocutaneous Syndromes > Tuberous Sclerosis
... > Skin and Connective Tissue Diseases > Skin Diseases > Skin Abnormalities > Ectodermal Dysplasia > Neurocutaneous Syndromes > Tuberous Sclerosis
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Skin Abnormalities > Ectodermal Dysplasia > Neurocutaneous Syndromes > Tuberous Sclerosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Neoplastic Syndromes, Hereditary > Tuberous Sclerosis
Neoplasms > Neoplastic Syndromes, Hereditary > Tuberous Sclerosis
Neoplasms > Neoplasms, Multiple Primary > Tuberous Sclerosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Tuberous Sclerosis
Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Tuberous Sclerosis
Nervous System Diseases > Nervous System Malformations > Malformations of Cortical Development > Malformations of Cortical Development, Group I > Tuberous Sclerosis
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Nervous System Malformations > Malformations of Cortical Development > Malformations of Cortical Development, Group I > Tuberous Sclerosis
Neoplasms > Hamartoma > Tuberous Sclerosis

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Tuberous Sclerosis  

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Tipo

  • mesh:Descriptor

Definición

  • Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease. Facial ANGIOFIBROMA in tuberous sclerosis

Concepto genérico

Conceptos relacionados

Etiquetas alternativas

  • Bourneville Disease
  • Bourneville Phakomatosis
  • Bourneville Syndrome
  • Bourneville-Pringle Disease
  • Bourneville-Pringle's Disease
  • Bourneville's Disease
  • Bourneville's Syndrome
  • Cerebral Sclerosis
  • Epiloia
  • Phacomatosis, Bourneville
  • Phakomatosis, Bourneville
  • Sclerosis Tuberosa
  • Tuberose Sclerosis
  • Tuberous Sclerosis Complex

En otras lenguas

  • Complexe de la sclérose tubéreuse

    francés

  • Epilepsy-low intelligence-adenoma sebaceum
  • Epiloïa
  • Maladie de Bourneville
  • Maladie de Bourneville-Pringle
  • Phacomatose de Bourneville
  • Sclérose tubéreuse de Bourneville
  • Sclérose tubéreuse du cerveau
  • STB (Sclérose Tubéreuse de Bourneville)
  • Syndrome de Bourneville

URI

http://data.loterre.fr/ark:/67375/JVR-WLDDD91P-J

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