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Shwachmanov-Diamondov syndróm
SYS d000081003 LBL 00000nx^^^2200181-^^45^^ 005 20240119195343.3 100 $a 20200101asloy0103 ba0 152 $b mesh 250 $a Shwachmanov-Diamondov 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 2020(2014) $8 eng 330 1-
$a An inherited syndrome characterized by EXOCRINE PANCREATIC INSUFFICIENCY; hematologic abnormalities (e.g., bone marrow hypoplasia), and skeletal abnormalities (e.g., metaphyseal chondroplasia). GERMLINE MUTATIONS in the SBDS gene are associated with Shwachman-Diamond Syndrome. $8 eng 450 $a Pancreatic Insufficiency and Bone Marrow Dysfunction $5 e $8 eng 450 $a Shwachman Diamond Syndrome $5 e $8 eng 450 $a Shwachman Syndrome $5 e $8 eng 450 $a Shwachman-Bodian Syndrome $5 e $8 eng 450 $a lipomatóza pankreasu, kongenitálna $5 e $8 slo 450 $a lipomatóza pankreasu, vrodená $5 e $8 slo 450 $a chondrodysplázia metafýzová, Swachmanov typ $5 e $8 slo 450 $a insuficiencia pankreasu a dysfunkcia kostnej drene $5 e $8 slo 450 $a Shwachmanov-Diamondov syndróm $5 e $8 slo 450 $a Shwachmanov syndróm $5 e $8 slo 450 $a Shwachman-Bodianov syndróm $5 e $8 slo 450 $a Shwachman-Bodian-Diamondov syndróm $5 e $8 slo 450 $a Shwachman-Diamond-Oski syndróm $5 e $8 slo 686 $a C06.689.276.500 686 $a C15.378.190.223.500.875 686 $a C18.452.584.563.824 686 $a C18.452.584.718.875 750 $a Shwachman-Diamond Syndrome $8 eng 801 -0
$a SK $b BA006 $c 20200216 801 -2
$a SK $b BA006 $c 20200602 980 $x M
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