Number of the records: 1
dysplázia kampomelická
SYS d055036 LBL 00000nz--a2200000n--4500 005 20250606220749.3 008 080101|||anznnbabn-----------|-a|a------ 040 $b slo $a BA006 $d BA006 065 $a C05.660.142 065 $a C16.131.621.142 066 $a 01 $c 03 150 $a dysplázia kampomelická $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 550 $7 sllk_us_auth*d010855 $Y Pierre Robin Syndrome $w b $a Pierre Robinov syndróm 550 $7 sllk_us_auth*d010855 $Y Pierre Robin Syndrome $w p $a Pierre Robinov syndróm 665 $a 2009 $2 eng 680 9-
$i A congenital disorder of CHONDROGENESIS and OSTEOGENESIS characterized by hypoplasia of endochondral bones. In most cases there is a curvature of the long bones especially the TIBIA with dimpling of the skin over the bowed areas, malformation of the pelvis and spine, 11 pairs of ribs, hypoplastic scapulae, club feet, micrognathia, CLEFT PALATE, tracheobronchomalacia, and in some patients male-to-female sex reversal (SEX REVERSAL, GONADAL). Most patients die in the neonatal period of respiratory distress. Campomelic dysplasia is associated with haploinsufficiency of the SOX9 TRANSCRIPTION FACTOR gene. $2 eng 750 -2
$a Campomelic Dysplasia $2 eng 980 $x M
Number of the records: 1