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skleróza tuberózna
Č. záznamu d014402 Dátum 06.06.2025 Typ M - MESH Tematický termín skleróza tuberózna Iný termín Angličtina (Pseudonym) Bourneville Disease
Angličtina (Pseudonym) Epiloia
Angličtina (Pseudonym) Phakomatosis, Bourneville
Slovenčina (Pseudonym) Bournevilleov syndróm
Slovenčina (Pseudonym) Bournevillov syndróm
Slovenčina (Pseudonym) Bournevilleov-Pringleov syndróm
Slovenčina (Pseudonym) Bournevillov-Pringleov syndróm
Slovenčina (Pseudonym) Bournevilleova-Pringleova choroba
Slovenčina (Pseudonym) Bournevillova-Pringleova choroba
Slovenčina (Pseudonym) Bournevilleova choroba
Slovenčina (Pseudonym) Bournevillova choroba
Slovenčina (Pseudonym) epiloia
Slovenčina (Pseudonym) Bournevilleova fakomatóza
Slovenčina (Pseudonym) skleróza mozgová
Slovenčina (Pseudonym) sclerosis tuberosa
Slovenčina (Pseudonym) komplex tuberóznej sklerózy
Slovenčina (Pseudonym) adenoma sebaceum
Slovenčina (Pseudonym) skleróza cerebrálna
Pozri tiež (Novšie záhlavie) fibróm
MDT C04.445.810C04.651.800C04.700.700C10.500.507.400.750C10.562.850C10.574.500.865C16.131.666.507.400.750C16.320.400.880C16.320.700.700 Poznámka 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. 
predmetové heslo
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