Počet záznamov: 1
pseudoxanthoma elasticum
SYS d011561 LBL 00000cz--a2200000n--4500 005 20250606213404.3 008 990101|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 $d BA006 065 $a C14.907.454.530 065 $a C15.378.463.515.530 065 $a C16.131.831.766 065 $a C16.320.850.750 065 $a C17.300.766 065 $a C17.800.804.766 065 $a C17.800.827.750 066 $a 01 $c 03 150 $a pseudoxanthoma elasticum $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 Grönbladovej-Strandbergov syndróm $2 slo 450 $w v $a pseudoxantóm elastický, autozomálne dominantný $2 slo 450 $w v $a pseudoxantóm elastický, inkompletný $2 slo 450 $w v $a pseudoxantóm elastický, neúplná forma $2 slo 680 9-
$i An inherited disorder of connective tissue with extensive degeneration and calcification of ELASTIC TISSUE primarily in the skin, eye, and vasculature. At least two forms exist, autosomal recessive and autosomal dominant. This disorder is caused by mutations of one of the ATP-BINDING CASSETTE TRANSPORTERS. Patients are predisposed to MYOCARDIAL INFARCTION and GASTROINTESTINAL HEMORRHAGE. $2 eng 680 $a in titles & translations use diacritic: Grönblad $2 eng 750 -2
$a Pseudoxanthoma Elasticum $2 eng 980 $x M
Počet záznamov: 1