Number of the records: 1
CHARGE syndróm
SYS d058747 LBL 00000cx--j2200000---45-- 005 20240119200644.6 100 $a 20110101asloy0103----ba0 152 $b mesh 250 $a CHARGE 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 2011 $8 eng 330 1-
$a Rare disease characterized by COLOBOMA; CHOANAL ATRESIA; and abnormal SEMICIRCULAR CANALS. Mutations in CHD7 protein resulting in disturbed neural crest development are associated with CHARGE Syndrome. $8 eng 450 $a CHARGE Association $5 e $8 eng 450 $a Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies $5 e $8 eng 450 $a Familial CHARGE Syndrome $5 e $8 eng 450 $a asociácia CHARGE $5 e $8 slo 450 $a asociácia CHARGE - kolobóm, defekty srdca, choanálna atrézia, oneskorenie vývinu, anomálie uší a genitálu $5 e $8 slo 450 $a kolobóm, defekty srdca, choanálna atrézia, retardácia vývinu, postihnutieí uší a genitálu $5 e $8 slo 450 $a syndróm CHARGE, familiárny $5 e $8 slo 450 $a Hallov-Hittnerov syndróm $5 e $8 slo 686 $a C09.218.458.341.186.500.250 686 $a C10.597.751.418.341.186.500.250 686 $a C10.597.751.941.162.625.250 686 $a C11.270.147.500 686 $a C11.966.075.375.250 686 $a C16.131.077.299.250 686 $a C16.320.165 686 $a C23.888.592.763.393.341.186.500.500 686 $a C23.888.592.763.941.162.625.500 750 $a CHARGE Syndrome $8 eng 801 -0
$a SK $b BA006 $c 20110127 801 -0
$a SK $b BA006 $c 20110704 801 -2
$a SK $b BA006 $c 20230814 980 $x M
Number of the records: 1