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syndróm branchiootorenálny
SYS d019280 LBL 00000cx--j22000003--45-- 005 20240119200247.7 100 $a 19960610csloy0103----ba0 152 $b mesh 250 $a syndróm branchiootorenálny $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 97 $8 eng 300 1-
$a Abnormalities, Multiple (1966-1996) $8 eng 300 1-
$a Chromosome Abnormalities (1966-1996) $8 eng 330 1-
$a An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed) $8 eng 450 $a BOR Syndrome $5 e $8 eng 450 $a Branchio-Oculo-Facial Syndrome $5 e $8 eng 450 $a Branchio-Otorenal Dysplasia $5 e $8 eng 450 $a syndróm žiabrovo-ušno-obličkový $5 e $8 slo 450 $a BOR syndróm $5 e $8 slo 450 $a dysplázia branchiootorenálna $5 e $8 slo 450 $a syndróm branchio-oto-renálny $5 e $8 slo 450 $a syndróm branchiookulofaciálny $5 e $8 slo 686 $a C16.131.077.208 686 $a C16.131.260.090 686 $a C16.320.180.090 750 $a Branchio-Oto-Renal Syndrome $8 eng 801 -0
$a US $b DNLM $c 19960610 801 -2
$a SK $b BA006 $c 20011127 980 $x M
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