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Williamsov syndróm
SYS d018980 LBL 00000cz--a2200000n--4500 005 20250606214350.7 008 950524|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 $d BA006 $d BA006 065 $a C10.597.606.360.970 065 $a C14.280.484.048.750.535.960 065 $a C16.131.260.970 065 $a C16.320.180.970 066 $a 01 $c 03 150 $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 $2 slo 450 $w v $a Contiguous Gene Syndrome, Williams $2 eng 450 $w v $a syndróm naliehajúcich génov, Williamsov $2 slo 450 $w v $a Williamsov-Beurenov syndróm $2 slo 450 $w v $a Beurenov syndróm $2 slo 450 $w v $a syndróm supravalvárnej stenózy aorty $2 slo 550 $7 sllk_us_auth*d004549 $Y Elastin $w b $a elastín 550 $7 sllk_us_auth*d004549 $Y Elastin $w p $a elastín 550 $7 sllk_us_auth*d008607 $Y Intellectual Disability $w p $a postihnutie intelektuálne 665 $a 96 $2 eng 665 $a Aortic Valve Stenosis (1969-1995) $2 eng 680 9-
$i 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. $2 eng 680 $a do not confuse with Williams-Campbell syndrome, a congenital cartilage deficiency $2 eng 750 -2
$a Williams Syndrome $2 eng 980 $x M
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