Number of the records: 1
Alagillov syndróm
SYS d016738 LBL 00000cz--a2200000n--4500 005 20250606213832.6 008 920429|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 $d BA006 065 $a C06.130.120.135.250.125 065 $a C06.552.150.125 065 $a C14.240.400.044 065 $a C16.131.077.065 065 $a C16.131.240.400.044 065 $a C16.320.051 066 $a 01 $c 03 150 $a Alagillov 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 Arteriohepatic Dysplasia $2 eng 450 $w v $a Dysplasia, Arteriohepatic $2 eng 450 $w v $a Alagilleho syndróm $2 slo 450 $w v $a Alagilleov syndróm $2 slo 450 $w v $a dysplázia hepatálnych artérií $2 slo 450 $w v $a dysplázia artériohepatálna $2 slo 665 $a 92 $2 eng 665 $a Abnormalities, Multiple (1981-1991) $2 eng 665 $a Bile Ducts, Intrahepatic/abnormalities (1980-1991) $2 eng 665 $a Cholestasis, Intrahepatic (1979-1991) $2 eng 665 $a Pulmonary Artery/abnormalities (1988-1991) $2 eng 680 9-
$i 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). $2 eng 750 -2
$a Alagille Syndrome $2 eng 980 $x M
Number of the records: 1