Počet záznamov: 1
Alagilleov syndróm
SYS d016738 LBL 00000nx--j22000003--45-- 005 20240119200141.8 100 $a 19920429csloy0103----ba0 152 $b mesh 250 $a Alagilleov 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 92 $8 eng 300 1-
$a Abnormalities, Multiple (1981-1991) $8 eng 300 1-
$a Bile Ducts, Intrahepatic/abnormalities (1980-1991) $8 eng 300 1-
$a Cholestasis, Intrahepatic (1979-1991) $8 eng 300 1-
$a Pulmonary Artery/abnormalities (1988-1991) $8 eng 330 1-
$a A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2). $8 eng 450 $a Arteriohepatic Dysplasia $5 e $8 eng 450 $a Dysplasia, Arteriohepatic $5 e $8 eng 450 $a dysplázia hepatálnych artérií $5 e $8 slo 450 $a dysplázia artériohepatická $5 e $8 slo 686 $a C06.130.120.135.250.125 686 $a C06.552.150.125 686 $a C14.240.400.044 686 $a C16.131.077.065 686 $a C16.131.240.400.044 686 $a C16.320.051 750 $a Alagille Syndrome $8 eng 801 -0
$a US $b DNLM $c 19920429 801 -2
$a SK $b BA006 $c 20000327 980 $x M
Počet záznamov: 1