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Loeysov-Dietzov syndróm
SYS d055947 LBL 00000nz--a2200000n--4500 005 20250606214947.5 008 100101|||anznnbabn-----------|-a|a------ 040 $b slo $a BA006 $a BA006 065 $a C05.660.207.532 065 $a C14.907.055.239.587 065 $a C14.907.109.139.587 065 $a C16.131.077.537 065 $a C16.320.510 066 $a 01 $c 03 150 $a Loeysov-Dietzov 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 Loeys-Dietz Aortic Aneurysm Syndrome $2 eng 450 $w v $a Loeysov-Dietzov syndróm aneuryzmy aorty $2 slo 550 $7 sllk_us_auth*d008382 $Y Marfan Syndrome $w b $a Marfanov syndróm 550 $7 sllk_us_auth*d004535 $Y Ehlers-Danlos Syndrome $w p $a Ehlersov-Danlosov syndróm 550 $7 sllk_us_auth*d008382 $Y Marfan Syndrome $w p $a Marfanov syndróm 665 $a 2010 $2 eng 665 $a Aortic Aneurysm (2005-2009) $2 eng 665 $a Marfan Syndrome (2005-2009) $2 eng 680 9-
$i An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling due to mutations in type I or II of TGF-BETA RECEPTOR. Additional craniofacial features include CLEFT PALATE; CRANIOSYNOSTOSIS; HYPERTELORISM; or bifid uvula. Phenotypes closely resemble MARFAN SYNDROME; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and EHLERS-DANLOS SYNDROME. $2 eng 750 -2
$a Loeys-Dietz Syndrome $2 eng 980 $x M
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