Number of the records: 1
Williamsov syndróm
SYS d018980 LBL 00000cx--j2200000---45-- 005 20240119201331.9 100 $a 19950524asloy0103----ba0 152 $b mesh 250 $a Williamsov syndróm $x BL $x CF $x CI $x CL $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 300 1-
$a 96 $8 eng 300 1-
$a Aortic Valve Stenosis (1969-1995) $8 eng 330 1-
$a A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy. $8 eng 450 $a Contiguous Gene Syndrome, Williams $5 e $8 eng 450 $a syndróm naliehajúcich génov, Williamsov $5 e $8 slo 450 $a Williamsov-Beurenov syndróm $5 e $8 slo 450 $a Beurenov syndróm $5 e $8 slo 450 $a syndróm supravalvárnej stenózy aorty $5 e $8 slo 550 $3 sllk_un_auth*d004549 $Y Elastin $5 B $a elastín 550 $3 sllk_un_auth*d004549 $Y Elastin $5 F $a elastín 550 $3 sllk_un_auth*d008607 $Y Intellectual Disability $5 F $a postihnutie intelektuálne 686 $a C10.597.606.360.970 686 $a C14.280.484.048.750.535.960 686 $a C16.131.260.970 686 $a C16.320.180.970 750 $a Williams Syndrome $8 eng 801 -0
$a US $b DNLM $c 19950524 801 -2
$a SK $b BA006 $c 20060411 801 -2
$a SK $b BA006 $c 20140703 801 -2
$a SK $b BA006 $c 20160203 820 $a do not confuse with Williams-Campbell syndrome, a congenital cartilage deficiency $8 eng 980 $x M
Number of the records: 1