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Marfanov syndróm
SYS d008382 LBL 00000cz--a2200000n--4500 005 20250606213714.2 008 990101|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 $d BA006 $d BA006 065 $a C05.116.099.674 065 $a C14.240.400.725 065 $a C14.280.400.725 065 $a C16.131.077.550 065 $a C16.131.240.400.720 065 $a C16.320.540 065 $a C17.300.500 066 $a 01 $c 03 150 $a Marfanov 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 Marfan Like Connective Tissue Disorder $2 eng 450 $w v $a Marfan Syndrome Type 1 $2 eng 450 $w v $a Marfan Syndrome Type 2 $2 eng 450 $w v $a Marfan Syndrome, Type II $2 eng 450 $w v $a porucha spojivového tkaniva podobná Marfanovmu syndrómu $2 slo 450 $w v $a Marfanov syndróm, typ 1 $2 slo 450 $w v $a Marfanov syndróm typu I $2 slo 450 $w v $a Marfanov syndróm, typ 2 $2 slo 450 $w v $a Marfanov syndróm typu II $2 slo 550 $7 sllk_us_auth*d055947 $Y Loeys-Dietz Syndrome $w p $a Loeysov-Dietzov syndróm 550 $7 sllk_us_auth*d056846 $Y Weill-Marchesani Syndrome $w p $a Weillov-Marchesaniho syndróm 550 $7 sllk_us_auth*d055947 $Y Loeys-Dietz Syndrome $w b $a Loeysov-Dietzov syndróm 550 $7 sllk_us_auth*d056846 $Y Weill-Marchesani Syndrome $w b $a Weillov-Marchesaniho syndróm 665 $a 1985; use ARACHNODACTYLY 1963-1984 $2 eng 680 9-
$i An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE; AORTIC ANEURYSM; and AORTIC DISSECTION. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue. Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2. $2 eng 750 -2
$a Marfan Syndrome $2 eng 980 $x M
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