Number of the records: 1
skleróza tuberózna
SYS d014402 LBL 00000cx--j2200000---45-- 005 20240119200956.4 100 $a 19990101asloy0103----ba0 152 $b mesh 250 $a skleróza tuberózna $x BL $x CF $x CI $x CL $x CN $x CO $x DG $x DH $x DI $x DT $x EC $x EH $x EM $x EN $x EP $x ET $x GE $x HI $x IM $x ME $x MI $x MO $x NU $x PA $x PC $x PP $x PS $x PX $x RH $x RT $x SU $x TH $x UR $x VE $x VI $8 slo 330 1-
$a 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. $8 eng 450 $a Bourneville Disease $5 e $8 eng 450 $a Epiloia $5 e $8 eng 450 $a Phakomatosis, Bourneville $5 e $8 eng 450 $a Bournevilleov syndróm $5 e $8 slo 450 $a Bournevillov syndróm $5 e $8 slo 450 $a Bournevilleov-Pringleov syndróm $5 e $8 slo 450 $a Bournevillov-Pringleov syndróm $5 e $8 slo 450 $a Bournevilleova-Pringleova choroba $5 e $8 slo 450 $a Bournevillova-Pringleova choroba $5 e $8 slo 450 $a Bournevilleova choroba $5 e $8 slo 450 $a Bournevillova choroba $5 e $8 slo 450 $a epiloia $5 e $8 slo 450 $a Bournevilleova fakomatóza $5 e $8 slo 450 $a skleróza mozgová $5 e $8 slo 450 $a sclerosis tuberosa $5 e $8 slo 450 $a komplex tuberóznej sklerózy $5 e $8 slo 450 $a adenoma sebaceum $5 e $8 slo 450 $a skleróza cerebrálna $5 e $8 slo 550 $3 sllk_un_auth*d005350 $Y Fibroma $5 B $a fibróm 675 $a 616.831-004 $v UDC-MRF-SK3 $z slo 686 $a C04.445.810 686 $a C04.651.800 686 $a C04.700.700 686 $a C10.500.507.400.750 686 $a C10.562.850 686 $a C10.574.500.865 686 $a C16.131.666.507.400.750 686 $a C16.320.400.880 686 $a C16.320.700.700 750 $a Tuberous Sclerosis $8 eng 801 -0
$a US $b DNLM $c 19990101 801 -2
$a SK $b BA006 $c 20010521 801 -2
$a SK $b BA006 $c 20211102 801 -2
$a SK $b BA006 $c 20221214 980 $x M
Number of the records: 1